diff --git "a/chpo_dict.csv" "b/chpo_dict.csv" new file mode 100644--- /dev/null +++ "b/chpo_dict.csv" @@ -0,0 +1,8980 @@ +hpo_id,english_term,chinese_term,english_description,chinese_description +HP:0000002,Abnormality of body height ,身高异常,Deviation from the norm of height with respect to that which is expected according to age and gender norms. ,校对中... +HP:0000003,Multicystic kidney dysplasia ,多囊性肾发育不良,"Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvicaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional. ",校对中... +HP:0000006,Autosomal dominant inheritance ,常染色体显性遗传,"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. ",校对中... +HP:0000007,Autosomal recessive inheritance ,常染色体隐性遗传,"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). ",校对中... +HP:0000008,Abnormal morphology of female internal genitalia ,女性内生殖器形态异常,An abnormality of the female internal genitalia. ,校对中... +HP:0000009,Functional abnormality of the bladder ,膀胱功能异常,Dysfunction of the urinary bladder. ,校对中... +HP:0000010,Recurrent urinary tract infections ,复发性尿路感染,Repeated infections of the urinary tract. ,校对中... +HP:0000011,Neurogenic bladder ,神经源性膀胱功能障碍,"A type of bladder dysfunction caused by neurologic damage. Neurogenic bladder can be flaccid or spastic. Common manifestatios of neurogenic bladder are overflow incontinence, frequency, urgency, urge incontinence, and retention. ",校对中... +HP:0000012,Urinary urgency ,尿急,"Urge incontinence is the strong, sudden need to urinate. ",校对中... +HP:0000013,Hypoplasia of the uterus ,子宫发育不良,Underdevelopment of the uterus. ,校对中... +HP:0000014,Abnormality of the bladder ,膀胱异常,An abnormality of the urinary bladder. ,校对中... +HP:0000015,Bladder diverticulum ,膀胱憩室,Diverticulum (sac or pouch) in the wall of the urinary bladder. ,校对中... +HP:0000016,Urinary retention ,尿潴留,Inability to completely empty the urinary bladder during the process of urination. ,校对中... +HP:0000017,Nocturia ,夜尿症,Abnormally increased production of urine during the night leading to an unusually frequent need to urinate. ,校对中... +HP:0000019,Urinary hesitancy ,排尿踌躇,Difficulty in beginning the process of urination. ,校对中... +HP:0000020,Urinary incontinence ,尿失禁,Loss of the ability to control the urinary bladder leading to involuntary urination. ,校对中... +HP:0000021,Megacystis ,巨膀胱症,Dilatation of the bladder postnatally. ,校对中... +HP:0000022,Abnormality of male internal genitalia ,男性内生殖器异常,An abnormality of the male internal genitalia. ,校对中... +HP:0000023,Inguinal hernia ,腹股沟疝,Protrusion of the contents of the abdominal cavity through the inguinal canal. ,校对中... +HP:0000024,Prostatitis ,前列腺炎,The presence of inflammation of the prostate. ,校对中... +HP:0000025,Functional abnormality of male internal genitalia ,男性内生殖器功能异常, , +HP:0000026,Male hypogonadism ,男性性腺功能减退症,"Decreased functionality of the male gonad, i.e., of the testis, with reduced spermatogenesis or testosterone synthesis. ",校对中... +HP:0000027,Azoospermia ,无精症,Absence of any measurable level of sperm in his semen. ,校对中... +HP:0000028,Cryptorchidism ,隐睾,"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. ",校对中... +HP:0000029,Testicular atrophy ,睾丸萎缩,Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility. ,校对中... +HP:0000030,Testicular gonadoblastoma ,睾丸性腺母细胞瘤,The presence of a gonadoblastoma of the testis. ,校对中... +HP:0000031,Epididymitis ,附睾炎,The presence of inflammation of the epididymis. ,校对中... +HP:0000032,Abnormality of male external genitalia ,男性外生殖器异常,An abnormality of male external genitalia. ,校对中... +HP:0000033,"Ambiguous genitalia, male ",男性外阴性别不明,Ambiguous genitalia in an individual with XY genetic gender. ,校对中... +HP:0000034,Hydrocele testis ,睾丸鞘膜积液,Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. ,校对中... +HP:0000035,Abnormal testis morphology ,睾丸形态异常,An anomaly of the testicle (the male gonad). ,校对中... +HP:0000036,Abnormal penis morphology ,阴茎形态异常,Abnormality of the male external sex organ. ,校对中... +HP:0000037,Male pseudohermaphroditism ,男性假两性畸形,"Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes. ",校对中... +HP:0000039,Epispadias ,尿道上裂,Displacement of the urethral opening on the dorsal (superior) surface of the penis. ,校对中... +HP:0000040,Long penis ,长阴茎,Penile length more than 2 SD above the mean for age. ,校对中... +HP:0000041,Chordee ,阴茎下曲,"Ventral, lateral, or ventrolateral bowing of the shaft and glans penis of more than 30 degrees. ",校对中... +HP:0000042,Absent external genitalia ,外生殖器缺如,Lack of external genitalia in a male or female individual. ,校对中... +HP:0000044,Hypogonadotropic hypogonadism ,低促性腺激素性性腺功能减退症,Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH). ,校对中... +HP:0000045,Abnormality of the scrotum ,阴囊异常, , +HP:0000046,Scrotal hypoplasia ,阴囊发育不良, , +HP:0000047,Hypospadias ,尿道下裂,"Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. ",校对中... +HP:0000048,Bifid scrotum ,阴囊对裂,Midline indentation or cleft of the scrotum. ,校对中... +HP:0000049,Shawl scrotum ,披肩状阴囊,Superior margin of the scrotum superior to the base of the penis. ,校对中... +HP:0000050,Hypoplastic male external genitalia ,男性外生殖器发育不良,"Underdevelopment of part or all of the male external reproductive organs (which include the penis, the scrotum and the urethra). ",校对中... +HP:0000051,Perineal hypospadias ,会阴型尿道下裂,Hypospadias with location of the urethral meatus in the perineal region. ,校对中... +HP:0000053,Macroorchidism ,巨睾,The presence of abnormally large testes. ,校对中... +HP:0000054,Micropenis ,小阴茎,"Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm. ",校对中... +HP:0000055,Abnormality of female external genitalia ,女性外生殖器异常,An abnormality of the female external genitalia. ,校对中... +HP:0000056,Abnormality of the clitoris ,阴蒂异常,An abnormality of the clitoris. ,校对中... +HP:0000058,Abnormal labia morphology ,阴唇形态异常,"An anomaly of the labia, the externally visible portions of the vulva. ",校对中... +HP:0000059,Hypoplastic labia majora ,大阴唇发育不良,Undergrowth of the outer labia. ,校对中... +HP:0000060,Clitoral hypoplasia ,阴蒂发育不良,Developmental hypoplasia of the clitoris. ,校对中... +HP:0000061,"Ambiguous genitalia, female ",女性外阴性别不明,Ambiguous genitalia in an individual with XX genetic gender. ,校对中... +HP:0000062,Ambiguous genitalia ,外阴性别不明,A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4. ,校对中... +HP:0000063,Fused labia minora ,小阴唇融合,Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction. ,校对中... +HP:0000064,Hypoplastic labia minora ,小阴唇发育不良, , +HP:0000065,Labial hypertrophy ,阴唇肥厚, , +HP:0000066,Labial hypoplasia ,阴唇发育不良, , +HP:0000068,Urethral atresia ,尿道闭锁,Congenital anomaly characterized by closure or failure to develop an opening in the urethra. ,校对中... +HP:0000069,Abnormality of the ureter ,输尿管异常,An abnormality of the ureter. The ureter is the duct by which urine passes from the kidney to the bladder. ,校对中... +HP:0000070,Ureterocele ,输尿管囊��,A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. ,校对中... +HP:0000071,Ureteral stenosis ,输尿管狭窄,"The presence of a stenotic, i.e., constricted ureter. ",校对中... +HP:0000072,Hydroureter ,输尿管积水,The distention of the ureter with urine. ,校对中... +HP:0000073,Ureteral duplication ,输尿管重复,"A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder. ",校对中... +HP:0000074,Ureteropelvic junction obstruction ,肾盂输尿管连接部梗阻,Blockage of urine flow from the renal pelvis to the proximal ureter. ,校对中... +HP:0000075,Renal duplication ,肾重复,"A congenital anomaly of the urinary tract, in which the kidney is duplicated and is drained via two separate renal pelves and ureters. ",校对中... +HP:0000076,Vesicoureteral reflux ,膀胱输尿管返流,Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. ,校对中... +HP:0000077,Abnormality of the kidney ,肾脏异常,An abnormality of the kidney. ,校对中... +HP:0000078,Abnormality of the genital system ,生殖系统异常,An abnormality of the genital system. ,校对中... +HP:0000079,Abnormality of the urinary system ,泌尿系统异常,An abnormality of the urinary system. ,校对中... +HP:0000080,Abnormality of reproductive system physiology ,生殖系统生理机能异常,An abnormal functionality of the genital system. ,校对中... +HP:0000081,Duplicated collecting system ,集合管系统重复,"A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. ",校对中... +HP:0000083,Renal insufficiency ,肾功能不全,"A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. ",校对中... +HP:0000085,Horseshoe kidney ,马蹄肾,A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline. ,校对中... +HP:0000086,Ectopic kidney ,异位肾,A developmental defect in which a kidney is located in an abnormal anatomic position. ,校对中... +HP:0000089,Renal hypoplasia ,肾发育不全,Hypoplasia of the kidney. ,校对中... +HP:0000090,Nephronophthisis ,肾结核,Presence of cysts at the corticomedullary junction of the kidney in combination with tubulointerstitial fibrosis. ,校对中... +HP:0000091,Abnormal renal tubule morphology ,肾小管形态异常,An abnormality of the renal tubules. ,校对中... +HP:0000092,Renal tubular atrophy ,肾小管萎缩,"The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules. ",校对中... +HP:0000093,Proteinuria ,蛋白尿,Increased levels of protein in the urine. ,校对中... +HP:0000096,Glomerular sclerosis ,肾小球硬化,Accumulation of scar tissue within the glomerulus. ,校对中... +HP:0000097,Focal segmental glomerulosclerosis ,局灶节段性肾小球硬化,Segmental accumulation of scar tissue in individual (but not all) glomeruli. ,校对中... +HP:0000098,Tall stature ,高身材,A height above that which is expected according to age and gender norms. ,校对中... +HP:0000099,Glomerulonephritis ,肾小球肾炎,Inflammation of the renal glomeruli. ,校对中... +HP:0000100,Nephrotic syndrome ,肾病综合征,"Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. ",校对中... +HP:0000103,Polyuria ,多尿,An increased rate of urine production. ,校对中... +HP:0000104,Renal agenesis ,肾缺如,"Agenesis, that is, failure of the kidney to develop during embryogenesis and development. ",校对中... +HP:0000105,Enlarged kidney ,肾脏肿大,An abnormal increase in the size of the kidney. ,校对中... +HP:0000107,Renal cyst ,肾囊肿,A fluid filled sac in the kidney. ,校对中... +HP:0000108,Renal corticomedullary cysts ,肾皮髓质交界处囊肿,The presence of multiple cysts at the border between the renal cortex and medulla. ,校对中... +HP:0000110,Renal dysplasia ,肾发育不良,The presence of developmental dysplasia of the kidney. ,校对中... +HP:0000111,Renal juxtaglomerular cell hypertrophy/hyperplasia ,肾小球球旁细胞肥大/增生,Increased number and size of the juxtaglomerular cells. ,校对中... +HP:0000112,Nephropathy ,肾病,A nonspecific term referring to disease or damage of the kidneys. ,校对中... +HP:0000113,Polycystic kidney dysplasia ,多囊肾性发育不良,The presence of multiple cysts in both kidneys. ,校对中... +HP:0000114,Proximal tubulopathy ,近端肾小管病,"Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle. ",校对中... +HP:0000117,Renal phosphate wasting ,肾源性磷酸盐流失,High urine phosphate in the presence of hypophosphatemia. ,校对中... +HP:0000119,Abnormality of the genitourinary system ,泌尿生殖系统异常,The presence of any abnormality of the genitourinary system. ,校对中... +HP:0000121,Nephrocalcinosis ,肾钙质沉着症,Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. ,校对中... +HP:0000122,Unilateral renal agenesis ,单侧肾缺如,A unilateral form of agenesis of the kidney. ,校对中... +HP:0000123,Nephritis ,肾炎,The presence of inflammation affecting the kidney. ,校对中... +HP:0000124,Renal tubular dysfunction ,肾小管功能障碍,"Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid. ",校对中... +HP:0000125,Pelvic kidney ,盆腔肾,A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis. ,校对中... +HP:0000126,Hydronephrosis ,肾积水,Severe distention of the kidney with dilation of the renal pelvis and calices. ,校对中... +HP:0000127,Renal salt wasting ,肾源性盐流失,A high concentration of one or more electrolytes in the urine in the presence of low serum concentrations of the electrolyte(s). ,校对中... +HP:0000128,Renal potassium wasting ,肾源性钾流失,High urine potassium in the presence of hypokalemia. ,校对中... +HP:0000130,Abnormality of the uterus ,子宫异常,An abnormality of the uterus. ,校对中... +HP:0000131,Uterine leiomyoma ,子宫肌瘤,The presence of a leiomyoma of the uterus. ,校对中... +HP:0000132,Menorrhagia ,月经过多症,Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. ,校对中... +HP:0000133,Gonadal dysgenesis ,性腺发育不全, , +HP:0000134,Female hypogonadism ,女性性腺功能减退症,"Decreased functionality of the female gonads, i.e., of the ovary. ",校对中... +HP:0000135,Hypogonadism ,性腺功能减退症,A decreased functionality of the gonad. ,校对中... +HP:0000136,Bifid uterus ,双角子宫,The presence of a bifid uterus. ,校对中... +HP:0000137,Abnormality of the ovary ,卵巢异常,An abnormality of the ovary. ,校对中... +HP:0000138,Ovarian cyst ,卵巢囊肿,The presence of one or more cysts of the ovary. ,校对中... +HP:0000139,Uterine prolapse ,子宫脱垂,The presence of prolapse of the uterus. ,校对中... +HP:0000140,Abnormality of the menstrual cycle ,月经周期异常,An abnormality of the ovulation cycle. ,校对中... +HP:0000141,Amenorrhea ,闭经,Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months. ,校对中... +HP:0000142,Abnormal vagina morphology ,阴道形态异常,Any structural abnormality of the vagina. ,校对中... +HP:0000143,Rectovaginal fistula ,直肠阴道瘘,The presence of a fistula between the vagina and the rectum. ,校对中... +HP:0000144,Decreased fertility ,生育能力下降, , +HP:0000145,Transverse vaginal septum ,阴道横膈, , +HP:0000147,Polycystic ovaries ,多囊卵巢, ,校对中... +HP:0000148,Vaginal atresia ,阴道闭锁,Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion. ,校对中... +HP:0000149,Ovarian gonadoblastoma ,卵巢性腺母细胞瘤,The presence of a gonadoblastoma of the ovary. ,校对中... +HP:0000150,Gonadoblastoma ,性腺母细胞瘤,"The presence of a gonadoblastoma, a neoplasm of a gonad that consists of aggregates of germ cells and sex cord elements. ",校对中... +HP:0000151,Aplasia of the uterus ,子宫发育不全,Aplasia of the uterus. ,校对中... +HP:0000152,Abnormality of head or neck ,头颈部异常,An abnormality of head and neck. ,校对中... +HP:0000153,Abnormality of the mouth ,嘴部异常,An abnormality of the mouth. ,校对中... +HP:0000154,Wide mouth ,宽嘴,"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). ",校对中... +HP:0000155,Oral ulcer ,口腔溃疡,"Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. ",校对中... +HP:0000157,Abnormality of the tongue ,舌异常,Any abnormality of the tongue. ,校对中... +HP:0000158,Macroglossia ,巨舌症,Increased length and width of the tongue. ,校对中... +HP:0000160,Narrow mouth ,小口畸形,"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). ",校对中... +HP:0000161,Median cleft lip ,正中唇裂,A type of cleft lip presenting as a midline (median) gap in the upper lip. ,校对中... +HP:0000162,Glossoptosis ,舌后坠,"Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. ",校对中... +HP:0000163,Abnormal oral cavity morphology ,口腔形态异常,"Abnormality of the oral cavity, i.e., the opening or hollow part of the mouth. ",校对中... +HP:0000164,Abnormality of the dentition ,牙列异常,Any abnormality of the teeth. ,校对中... +HP:0000166,Severe periodontitis ,重度牙周炎,A severe form of periodontitis. ,校对中... +HP:0000168,Abnormality of the gingiva ,牙龈异常,Any abnormality of the gingiva (also known as gums). ,校对中... +HP:0000169,Gingival fibromatosis ,牙龈纤维瘤病,The presence of fibrosis of the gingiva. ,校对中... +HP:0000171,Microglossia ,小舌畸形,Decreased length and width of the tongue. ,校对中... +HP:0000172,Abnormal uvula morphology ,悬雍垂形态异常,"Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. ",校对中... +HP:0000174,Abnormal palate morphology ,腭形态异常,"Any abnormality of the palate, i.e., of roof of the mouth. ",校对中... +HP:0000175,Cleft palate ,腭裂,Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). ,校对中... +HP:0000176,Submucous cleft hard palate ,黏膜下硬裂腭,Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate. ,校对中... +HP:0000177,Abnormality of upper lip ,上唇异常,An abnormality of the upper lip. ,校对中... +HP:0000178,Abnormality of lower lip ,下唇异常,An abnormality of the lower lip. ,校对中... +HP:0000179,Thick lower lip vermilion ,厚下红唇,"Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective). ",校对中... +HP:0000180,Lobulated tongue ,分叶舌,Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour. ,校对中... +HP:0000182,Movement abnormality of the tongue ,舌头运动异常, , +HP:0000183,Difficulty in tongue movements ,舌活动困难, , +HP:0000185,Cleft soft palate ,软腭裂,"Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. ",校对中... +HP:0000187,Broad alveolar ridges ,宽牙槽嵴, , +HP:0000188,Short upper lip ,上唇短小,Decreased width of the upper lip. ,校对中... +HP:0000189,Narrow palate ,上腭狭窄,Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective). ,校对中... +HP:0000190,Abnormal oral frenulum morphology ,口腔系带形态异常,"An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity. ",校对中... +HP:0000191,Accessory oral frenulum ,额外口腔系带,Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip. ,校对中... +HP:0000193,Bifid uvula ,悬雍垂裂,Uvula separated into two parts most easily seen at the tip. ,校对中... +HP:0000194,Open mouth ,闭口不能,A facial appearance characterized by a permanently or nearly permanently opened mouth. ,校对中... +HP:0000196,Lower lip pit ,下唇凹陷,"Depression located on the vermilion of the lower lip, usually paramedian. ",校对中... +HP:0000197,Abnormal parotid gland morphology ,腮腺形态异常,"Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear. ",校对中... +HP:0000198,Absence of Stensen duct ,无腮腺导管, , +HP:0000199,Tongue nodules ,舌结节, , +HP:0000200,Short lingual frenulum ,舌系带过短,The presence of an abnormally short lingual frenulum. ,校对中... +HP:0000201,Pierre-Robin sequence ,皮埃尔 - 罗宾序列征,"Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. ",校对中... +HP:0000202,Oral cleft ,口裂,"The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. ",校对中... +HP:0000204,Cleft upper lip ,上唇裂,A gap in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development. ,校对中... +HP:0000205,Pursed lips ,撅起的嘴唇,An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance. ,校对中... +HP:0000206,Glossitis ,舌炎,Inflammation of the tongue. ,校对中... +HP:0000207,Triangular mouth ,三角嘴,The presence of a triangular form of the mouth. ,校对中... +HP:0000211,Trismus ,张口受限,Limitation in the ability to open the mouth. ,校对中... +HP:0000212,Gingival overgrowth ,牙龈增生,"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown. ",校对中... +HP:0000214,Lip telangiectasia ,唇部毛细血管扩张,"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the lips. ",校对中... +HP:0000215,Thick upper lip vermilion ,厚上红唇,"Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective). ",校对中... +HP:0000216,Broad secondary alveolar ridge ,宽恒牙槽嵴, , +HP:0000217,Xerostomia ,口腔干燥,Dryness of the mouth due to salivary gland dysfunction. ,校对中... +HP:0000218,High palate ,高腭,Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). ,校对中... +HP:0000219,Thin upper lip vermilion ,薄上唇红,"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). ",校对中... +HP:0000220,Velopharyngeal insufficiency ,腭咽机能不全,Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. ,校对中... +HP:0000221,Furrowed tongue ,沟裂舌,Accentuation of the grooves on the dorsal surface of the tongue. ,校对中... +HP:0000222,Gingival hyperkeratosis ,牙龈角化过度,Hyperkeratosis of the gingiva. ,校对中... +HP:0000224,Hypogeusia ,味觉减退,A decreased ability to perceive flavor. ,校对中... +HP:0000225,Gingival bleeding ,牙龈出血,Hemorrhage affecting the gingiva. ,校对中... +HP:0000227,Tongue telangiectasia ,舌毛细血管扩张,"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the tongue. ",校对中... +HP:0000230,Gingivitis ,牙龈炎,Inflammation of the gingiva. ,校对中... +HP:0000232,Everted lower lip vermilion ,下唇唇红外翻,"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view. ",校对中... +HP:0000233,Thin vermilion border ,下红唇薄,"Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips). ",校对中... +HP:0000234,Abnormality of the head ,头部异常,An abnormality of the head. ,校对中... +HP:0000235,Abnormality of the fontanelles or cranial sutures ,囟门或颅缝异常,Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments). ,校对中... +HP:0000237,Small anterior fontanelle ,小前囟,Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms. ,校对中... +HP:0000238,Hydrocephalus ,脑积水,Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. ,校对中... +HP:0000239,Large fontanelles ,大囟门,"In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. ",校对中... +HP:0000242,Parietal bossing ,顶骨隆起,Parietal bossing is a marked prominence in the parietal region. ,校对中... +HP:0000243,Trigonocephaly ,三角头畸形,"Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput. ",校对中... +HP:0000244,Brachyturricephaly ,短尖头畸形,"Abnormal vertical height of the skull and a shortening of its anterior-posterior length, frequently combined with malformations of the occipital region. ",校对中... +HP:0000246,Sinusitis ,鼻窦炎,"Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. ",校对中... +HP:0000248,Brachycephaly ,短头畸形,"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. ",校对中... +HP:0000250,Dense calvaria ,颅盖骨密度过高,An abnormal increase of density of the bones making up the calvaria. ,校对中... +HP:0000252,Microcephaly ,小头畸形,Head circumference below 2 standard deviations below the mean for age and gender. ,校对中... +HP:0000253,Progressive microcephaly ,渐进性小头畸形,Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms. ,校对中... +HP:0000256,Macrocephaly ,巨头畸形,"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. ",校对中... +HP:0000260,Wide anterior fontanel ,前囟增宽,Enlargement of the anterior fontanelle with respect to age-dependent norms. ,校对中... +HP:0000262,Turricephaly ,尖头畸形,Tall head relative to width and length. ,校对中... +HP:0000263,Oxycephaly ,锥形头,"Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull. ",校对中... +HP:0000264,Abnormality of the mastoid ,乳突异常,"An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone. ",校对中... +HP:0000265,Mastoiditis ,乳突炎, , +HP:0000267,Cranial asymmetry ,颅骨不对称,Asymmetry of the bones of the skull. ,校对中... +HP:0000268,Dolichocephaly ,长头畸形,"An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. ",校对中... +HP:0000269,Prominent occiput ,枕骨突出,Increased convexity of the occiput (posterior part of the skull). ,校对中... +HP:0000270,Delayed cranial suture closure ,颅缝闭合延迟,"Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age. ",校对中... +HP:0000271,Abnormality of the face ,脸部异常,An abnormality of the face. ,校对中... +HP:0000272,Malar flattening ,颧骨扁平,"Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation. ",校对中... +HP:0000273,Facial grimacing ,面部表情痛苦, , +HP:0000274,Small face ,小脸,A face that is short (HP:0011219) and narrow (HP:0000275). ,校对中... +HP:0000275,Narrow face ,脸狭窄,"Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). ",校对中... +HP:0000276,Long face ,长脸,"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). ",校对中... +HP:0000277,Abnormality of the mandible ,下颌骨异常,"Any abnormality of the mandible, the bone of the lower jaw. ",校对中... +HP:0000278,Retrognathia ,下颌后缩,An abnormality in which the mandible is mislocalised posteriorly. ,校对中... +HP:0000280,Coarse facial features ,面容粗糙,"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. ",校对中... +HP:0000282,Facial edema ,面部水肿, , +HP:0000283,Broad face ,宽脸,Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective). ,校对中... +HP:0000286,Epicanthus ,内眦赘皮,"A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. ",校对中... +HP:0000287,Increased facial adipose tissue ,面部脂肪组织增多,An increased amount of subcutaneous fat tissue in the face. ,校对中... +HP:0000288,Abnormality of the philtrum ,人中异常,An abnormality of the philtrum. ,校对中... +HP:0000289,Broad philtrum ,宽人中,"Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum. ",校对中... +HP:0000290,Abnormality of the forehead ,前额异常,An anomaly of the forehead. ,校对中... +HP:0000292,Loss of facial adipose tissue ,面部脂肪组织丢失,Loss of normal subcutaneous fat tissue in the face. ,校对中... +HP:0000293,Full cheeks ,脸颊丰满,Increased prominence or roundness of soft tissues between zygomata and mandible. ,校对中... +HP:0000294,Low anterior hairline ,前发际低,"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella. ",校对中... +HP:0000295,Doll-like facies ,娃娃脸,"A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin. ",校对中... +HP:0000297,Facial hypotonia ,面部肌张力低下,Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve). ,校对中... +HP:0000298,Mask-like facies ,面具样面容,A lack of facial expression often with staring eyes and a slightly open mouth. ,校对中... +HP:0000300,Oval face ,卵形脸,A face with a rounded and slightly elongated outline. ,校对中... +HP:0000303,Mandibular prognathia ,下颌前突,Abnormal prominence of the chin related to increased length of the mandible. ,校对中... +HP:0000306,Abnormality of the chin ,下巴异常,"An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. ",校对中... +HP:0000307,Pointed chin ,尖下巴,A marked tapering of the lower face to the chin. ,校对中... +HP:0000308,Microretrognathia ,下颌小且后移,A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. ,校对中... +HP:0000309,Abnormality of the midface ,面中部异常,"An anomaly of the midface, which is a region and not an anatomical term. It extends, superiorly, from the inferior orbital margin to, inferiorly, the level of nasal base. It is formed by the maxilla (upper jaw) and zygoma and cheeks and malar region. Traditionally, the nose and premaxilla are not included in the midface. ",校对中... +HP:0000311,Round face ,圆脸,The facial appearance is more circular than usual as viewed from the front. ,校对中... +HP:0000315,Abnormality of the orbital region ,眼眶异常, , +HP:0000316,Hypertelorism ,眼距过宽,"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). ",校对中... +HP:0000317,Facial myokymia ,面肌颤搐,Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve). ,校对中... +HP:0000319,Smooth philtrum ,人中扁平,"Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border. ",校对中... +HP:0000320,Bird-like facies ,鸟样面相, , +HP:0000321,Square face ,方脸,"Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. ",校对中... +HP:0000322,Short philtrum ,人中短,"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. ",校对中... +HP:0000324,Facial asymmetry ,面部不对称,An abnormal difference between the left and right sides of the face. ,校对中... +HP:0000325,Triangular face ,三角脸,"Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. ",校对中... +HP:0000326,Abnormality of the maxilla ,上颌骨异常,An abnormality of the Maxilla (upper jaw bone). ,校对中... +HP:0000327,Hypoplasia of the maxilla ,上颌骨发育不全,Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. ,校对中... +HP:0000329,Facial hemangioma ,面部血管瘤,"Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. ",校对中... +HP:0000331,Short chin ,短下巴,Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. ,校对中... +HP:0000336,Prominent supraorbital ridges ,眶上嵴突出,Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. ,校对中... +HP:0000337,Broad forehead ,宽前额,Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead. ,校对中... +HP:0000338,Hypomimic face ,面具样面容,"A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation. ",校对中... +HP:0000339,Pugilistic facies ,拳击手面容,Coarse facial features reminiscent of those of a boxer. ,校对中... +HP:0000340,Sloping forehead ,额头倾斜,Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view. ,校对中... +HP:0000341,Narrow forehead ,额头狭窄,Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective). ,校对中... +HP:0000343,Long philtrum ,长人中,"Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. ",校对中... +HP:0000346,Whistling appearance ,吹口哨面容,An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling. ,校对中... +HP:0000347,Micrognathia ,小下颌,Developmental hypoplasia of the mandible. ,校对中... +HP:0000348,High forehead ,额头高,An abnormally increased height of the forehead. ,校对中... +HP:0000349,Widow's peak ,美人尖,Frontal hairline with bilateral arcs to a low point in the midline of the forehead. ,校对中... +HP:0000350,Small forehead ,小额头,The presence of a forehead that is abnormally small. ,校对中... +HP:0000356,Abnormality of the outer ear ,外耳异常,An abnormality of the external ear. ,校对中... +HP:0000358,Posteriorly rotated ears ,后旋耳,"A type of abnormal location of the ears in which the position of the ears is characterized by posterior rotation (the superior part of the ears is rotated towards the back of the head, and the inferior part of the ears towards the front). ",校对中... +HP:0000359,Abnormality of the inner ear ,内耳异常,An abnormality of the inner ear. ,校对中... +HP:0000360,Tinnitus ,耳鸣,"Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation. ",校对中... +HP:0000362,Otosclerosis ,耳硬化症,"In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss. ",校对中... +HP:0000363,Abnormality of earlobe ,耳垂异常,An abnormality of the lobule of pinna. ,校对中... +HP:0000364,Hearing abnormality ,听力异常,An abnormality of the sensory perception of sound. ,校对中... +HP:0000365,Hearing impairment ,听力障碍,A decreased magnitude of the sensory perception of sound. ,校对中... +HP:0000366,Abnormality of the nose ,鼻异常,An abnormality of the nose. ,校对中... +HP:0000368,"Low-set, posteriorly rotated ears ",低位后旋转耳,Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358). ,校对中... +HP:0000369,Low-set ears ,低位耳,Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. ,校对中... +HP:0000370,Abnormality of the middle ear ,中耳异常,An abnormality of the middle ear. ,校对中... +HP:0000371,Acute otitis media ,急性中耳炎,Acute otitis media is a short and generally painful infection of the middle ear. ,校对中... +HP:0000372,Abnormality of the auditory canal ,耳道异常,An abnormality of the External acoustic tube (also known as the auditory canal). ,校对中... +HP:0000375,Abnormal cochlea morphology ,耳蜗异常,An abnormality of the cochlea. ,校对中... +HP:0000376,Incomplete partition of the cochlea type II ,II型耳蜗分隔不全,"IWith incomplete partition II, the cochlea consists of 1.5 turns; the apical and middle cochlea turns are undifferentiated and form a cystic apex. The vestibule is normal while the vestibular aqueduct is always enlarged. Developmental arrest occurs at the seventh week of gestation. ",校对中... +HP:0000377,Abnormality of the pinna ,耳廓异常,"An abnormality of the pinna, which is also referred to as the auricle or external ear. ",校对中... +HP:0000378,Cupped ear ,杯状耳,Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura). ,校对中... +HP:0000381,Stapes ankylosis ,镫骨固定,"Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles). ",校对中... +HP:0000384,Preauricular skin tag ,耳前皮赘,A rudimentary tag of skin often containing ear tissue including a core of cartilage and located just anterior to the auricle (outer part of the ear). ,校对中... +HP:0000385,Small earlobe ,小耳垂,Reduced volume of the earlobe. ,校对中... +HP:0000387,Absent earlobe ,耳垂缺失,Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura. ,校对中... +HP:0000388,Otitis media ,中耳炎,Inflammation or infection of the middle ear. ,校对中... +HP:0000389,Chronic otitis media ,慢性中耳炎,"Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. ",校对中... +HP:0000391,Thickened helices ,耳轮增厚,Increased thickness of the helix of the ear. ,校对中... +HP:0000394,Lop ear ,垂耳,Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha. ,校对中... +HP:0000395,Prominent antihelix ,对耳轮突出,The presence of an abnormally prominent antihelix. ,校对中... +HP:0000396,Overfolded helix ,耳轮过度卷曲,"A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear. ",校对中... +HP:0000399,Prelingual sensorineural hearing impairment ,学语前感音神经性听力损失,"A form of sensorineural deafness with either congenital onset or infantile onset, i.e., before the acquisition of speech. ",校对中... +HP:0000400,Macrotia ,巨耳畸形,"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective). ",校对中... +HP:0000402,Stenosis of the external auditory canal ,外耳道狭窄,An abnormal narrowing of the external auditory canal. ,校对中... +HP:0000403,Recurrent otitis media ,反复发作型中耳炎,"Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. ",校对中... +HP:0000405,Conductive hearing impairment ,传导性听力障碍,An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. ,校对中... +HP:0000407,Sensorineural hearing impairment ,感音神经性耳聋,A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. ,校对中... +HP:0000408,Progressive sensorineural hearing impairment ,渐进性感音神经性听力损失,A progressive form of sensorineural hearing impairment. ,校对中... +HP:0000410,Mixed hearing impairment ,混合性听力损失,A type of hearing loss resulting from a combination of conductive hearing impairment and sensorineural hearing impairment. ,校对中... +HP:0000411,Protruding ear ,招风耳,"Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). ",校对中... +HP:0000413,Atresia of the external auditory canal ,外耳道闭锁,Absence or failure to form of the external auditory canal. ,校对中... +HP:0000414,Bulbous nose ,蒜头鼻,Increased volume and globular shape of the anteroinferior aspect of the nose. ,校对中... +HP:0000417,Slender nose ,鼻细长, , +HP:0000418,Narrow nasal ridge ,鼻脊狭窄,Decreased width of the nasal ridge. ,校对中... +HP:0000419,Abnormality of the nasal septum ,鼻中隔异常,An abnormality of the nasal septum. ,校对中... +HP:0000420,Short nasal septum ,鼻中隔短小,Reduced superior to inferior length of the nasal septum. ,校对中... +HP:0000421,Epistaxis ,鼻衄,"Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. ",校对中... +HP:0000422,Abnormal nasal bridge morphology ,鼻梁形态异常,"Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi. ",校对中... +HP:0000426,Prominent nasal bridge ,鼻梁突出,Anterior positioning of the nasal root in comparison to the usual positioning for age. ,校对中... +HP:0000429,Abnormality of the nasal alae ,鼻翼异常,An abnormality of the Ala of nose. ,校对中... +HP:0000430,Underdeveloped nasal alae ,鼻翼发育不全,"Thinned, deficient, or excessively arched ala nasi. ",校对中... +HP:0000431,Wide nasal bridge ,宽鼻梁,"Increased breadth of the nasal bridge (and with it, the nasal root). ",校对中... +HP:0000433,Abnormal nasal mucosa morphology ,鼻粘膜形态异常, , +HP:0000434,Nasal mucosa telangiectasia ,鼻粘膜毛细血管扩张,Telangiectasia of the nasal mucosa. ,校对中... +HP:0000437,Depressed nasal tip ,鼻尖凹陷,Decreased distance from the nasal tip to the nasal base. ,校对中... +HP:0000444,Convex nasal ridge ,凸鼻嵴,"Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. ",校对中... +HP:0000445,Wide nose ,宽鼻,"Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae. ",校对中... +HP:0000446,Narrow nasal bridge ,鼻梁狭窄,Decreased width of the bony bridge of the nose. ,校对中... +HP:0000447,Pear-shaped nose ,梨形鼻, , +HP:0000448,Prominent nose ,鼻前突,"Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip. ",校对中... +HP:0000451,Triangular nasal tip ,三角鼻尖, , +HP:0000452,Choanal stenosis ,鼻后孔狭窄,Abnormal narrowing of the choana (the posterior nasal aperture). ,校对中... +HP:0000453,Choanal atresia ,鼻后孔闭锁,Absence or abnormal closure of the choana (the posterior nasal aperture). ,校对中... +HP:0000454,Flared nostrils ,喇叭状鼻孔, , +HP:0000455,Broad nasal tip ,宽鼻尖,Increase in width of the nasal tip. ,校对中... +HP:0000456,Bifid nasal tip ,鼻尖裂,"A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip. ",校对中... +HP:0000457,Depressed nasal ridge ,鼻嵴凹陷,Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge. ,校对中... +HP:0000458,Anosmia ,嗅觉丧失,"An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. ",校对中... +HP:0000460,Narrow nose ,鼻缩窄,"Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae. ",校对中... +HP:0000463,Anteverted nares ,鼻孔前翻,Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). ,校对中... +HP:0000464,Abnormality of the neck ,颈部异常,An abnormality of the neck. ,校对中... +HP:0000465,Webbed neck ,蹼颈,Pterygium colli is a congenital skin fold that runs along the sides of the neck down to the shoulders. It involves an ectopic fibrotic facial band superficial to the trapezius muscle. Excess hair-bearing skin is also present and extends down the cervical region well beyond the normal hairline. ,校对中... +HP:0000466,Limited neck range of motion ,颈部运动范围受限, , +HP:0000467,Neck muscle weakness ,颈肌无力,Decreased strength of the neck musculature. ,校对中... +HP:0000468,Increased adipose tissue around the neck ,颈周脂肪组织增多,An increased amount of subcutaneous fat tissue around the neck. ,校对中... +HP:0000470,Short neck ,短颈,Diminished length of the neck. ,校对中... +HP:0000471,Gastrointestinal angiodysplasia ,胃肠道血管发育���良,Dysplasia affecting the vasculature of the gastrointestinal tract. ,校对中... +HP:0000472,Long neck ,长颈,Increased inferior-superior length of the neck. ,校对中... +HP:0000473,Torticollis ,斜颈,Involuntary contractions of the neck musculature resulting in an abnormal posture of or abnormal movements of the head. ,校对中... +HP:0000474,Thickened nuchal skin fold ,颈部皮肤皱襞增厚,"A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (PMID:16100637). ",校对中... +HP:0000475,Broad neck ,宽颈,Increased side-to-side width of the neck. ,校对中... +HP:0000476,Cystic hygroma ,囊状水瘤,A cystic lymphatic lesion of the neck. ,校对中... +HP:0000478,Abnormality of the eye ,眼部异常,"Any abnormality of the eye, including location, spacing, and intraocular abnormalities. ",校对中... +HP:0000479,Abnormal retinal morphology ,视网膜形态异常,A structural abnormality of the retina. ,校对中... +HP:0000480,Retinal coloboma ,视网膜缺损,A notch or cleft of the retina. ,校对中... +HP:0000481,Abnormal cornea morphology ,角膜形态异常,"Any abnormality of the cornea, which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber. ",校对中... +HP:0000482,Microcornea ,小角膜,A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. ,校对中... +HP:0000483,Astigmatism ,散光,A type of astigmatism associated with abnormal curvatures on the anterior and/or posterior surface of the cornea. ,校对中... +HP:0000484,Hyperopic astigmatism ,远视散光,A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error. ,校对中... +HP:0000485,Megalocornea ,巨角膜,An enlargement of the cornea with normal clarity and function. Megalocornea is diagnosed with a horizontal corneal diameter of 12 mm or more at birth or 13 mm or more after two years of age. ,校对中... +HP:0000486,Strabismus ,斜视,"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. ",校对中... +HP:0000488,Retinopathy ,视网膜病变,"Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. ",校对中... +HP:0000490,Deeply set eye ,眼睛深陷,An eye that is more deeply recessed into the plane of the face than is typical. ,校对中... +HP:0000491,Keratitis ,角膜炎,Inflammation of the cornea. ,校对中... +HP:0000492,Abnormal eyelid morphology ,眼睑形态异常,An abnormality of the eyelids. ,校对中... +HP:0000493,Abnormal foveal morphology ,黄斑中央凹形态异常,"An abnormality of the fovea centralis, the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina. ",校对中... +HP:0000494,Downslanted palpebral fissures ,下斜睑裂,The palpebral fissure inclination is more than two standard deviations below the mean. ,校对中... +HP:0000495,Recurrent corneal erosions ,复发性角膜糜烂,"The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations. ",校对中... +HP:0000496,Abnormality of eye movement ,眼球运动异常,An abnormality in voluntary or involuntary eye movements or their control. ,校对中... +HP:0000498,Blepharitis ,眼睑炎,Inflammation of the eyelids. ,校对中... +HP:0000499,Abnormal eyelash morphology ,睫毛形态异常,An abnormality of the eyelashes. ,校对中... +HP:0000501,Glaucoma ,青光眼,Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. ,校对中... +HP:0000502,Abnormal conjunctiva morphology ,结膜形态异常,An abnormality of the conjunctiva. ,校对中... +HP:0000503,Tortuosity of conjunctival vessels ,结膜血管迂曲,The presence of an increased number of twists and turns of the conjunctival blood vessels. ,校对中... +HP:0000504,Abnormality of vision ,视力异常,Abnormality of eyesight (visual perception). ,校对中... +HP:0000505,Visual impairment ,视觉障碍,"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. ",校对中... +HP:0000506,Telecanthus ,内眦距过宽,"Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi. ",校对中... +HP:0000508,Ptosis ,上睑下垂,"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective). ",校对中... +HP:0000509,Conjunctivitis ,结膜炎,Inflammation of the conjunctiva. ,校对中... +HP:0000510,Rod-cone dystrophy ,杆锥体营养不良,"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. ",校对中... +HP:0000511,Vertical supranuclear gaze palsy ,垂直性核上性凝视麻痹,"A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. ",校对中... +HP:0000512,Abnormal electroretinogram ,视网膜电图异常,Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography. ,校对中... +HP:0000514,Slow saccadic eye movements ,慢扫视眼球运动,An abnormally slow velocity of the saccadic eye movements. ,校对中... +HP:0000517,Abnormality of the lens ,晶状体异常,An abnormality of the lens. ,校对中... +HP:0000518,Cataract ,白内障,A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. ,校对中... +HP:0000519,Developmental cataract ,发育性白内障,"A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. ",校对中... +HP:0000520,Proptosis ,眼球突出,An eye that is protruding anterior to the plane of the face to a greater extent than is typical. ,校对中... +HP:0000522,Alacrima ,无泪,Absence of tear secretion. ,校对中... +HP:0000523,Subcapsular cataract ,囊膜下白内障,A cataract that affects the region of the lens directly beneath the capsule of the lens. ,校对中... +HP:0000524,Conjunctival telangiectasia ,结膜毛细血管扩张,The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva. ,校对中... +HP:0000525,Abnormality iris morphology ,虹膜形态异常,"An abnormality of the iris, which is the pigmented muscular tissue between the cornea and the lens, that is perforated by an opening called the pupil. ",校对中... +HP:0000526,Aniridia ,无虹膜,"Abnormality of the iris characterized by, typically bilateral, complete or partial iris hypoplasia. The phenotype ranges from mild defects of anterior iris stroma only to almost complete absence of the iris. ",校对中... +HP:0000527,Long eyelashes ,长睫毛,Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective). ,校对中... +HP:0000528,Anophthalmia ,无眼畸形,Absence of the globe or eyeball. ,校对中... +HP:0000529,Progressive visual loss ,进行性视力下降,A reduction of previously attained ability to see. ,校对中... +HP:0000531,Corneal crystals ,角膜结晶, , +HP:0000532,Abnormal chorioretinal morphology ,脉络膜视网膜形态异常,An abnormality of the choroid and retina. ,校对中... +HP:0000533,Chorioretinal atrophy ,脉络膜视网膜萎缩,Atrophy of the choroid and retinal layers of the fundus. ,校对中... +HP:0000534,Abnormal eyebrow morphology ,眉毛形态异常,An abnormality of the eyebrow. ,校对中... +HP:0000537,Epicanthus inversus ,内眦赘皮倒转,"A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus. ",校对中... +HP:0000538,Pseudopapilledema ,假性视乳头水肿,Apparent optic disc swelling in the absence of increased intracranial pressure. ,校对中... +HP:0000539,Abnormality of refraction ,屈光异常,An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina. ,校对中... +HP:0000540,Hypermetropia ,远视,"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry. ",校对中... +HP:0000541,Retinal detachment ,视网膜脱离,Separation of the inner layers of the retina (neural retina) from the pigment epithelium. ,校对中... +HP:0000542,Impaired ocular adduction ,眼内收障碍,Reduced ability to move the eye in the direction of the nose. ,校对中... +HP:0000543,Optic disc pallor ,视盘苍白,A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression. ,校对中... +HP:0000544,External ophthalmoplegia ,眼外肌麻痹,Paralysis of the external ocular muscles. ,校对中... +HP:0000545,Myopia ,近视,"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. ",校对中... +HP:0000546,Retinal degeneration ,视网膜变性,A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells. ,校对中... +HP:0000548,Cone/cone-rod dystrophy ,锥杆细胞营养不良, , +HP:0000549,Abnormal conjugate eye movement ,眼球共轭运动异常,Any deviation from the normal motor coordination of the eyes that allows for bilateral fixation on a single object. ,校对中... +HP:0000550,Undetectable electroretinogram ,视网膜电流图熄灭型,Lack of any response to stimulation upon electroretinography. ,校对中... +HP:0000551,Color vision defect ,色觉缺陷,An anomaly in the ability to discriminate between or recognize colors. ,校对中... +HP:0000552,Tritanomaly ,蓝色弱,"Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment. ",校对中... +HP:0000553,Abnormal uvea morphology ,葡萄膜形态异常,"An abnormality of the uvea, the vascular layer of the eyeball. ",校对中... +HP:0000554,Uveitis ,葡萄膜炎,Inflammation of one or all portions of the uveal tract. ,校对中... +HP:0000555,Leukocoria ,白瞳症,An abnormal white reflection from the pupil rather than the usual black reflection. ,校对中... +HP:0000556,Retinal dystrophy ,视网膜营养不良,Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event. ,校对中... +HP:0000557,Buphthalmos ,爆裂眼,Diffusely large eye (with megalocornea) associated with glaucoma. ,校对中... +HP:0000558,Rieger anomaly ,Rieger综合征,"A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities. ",校对中... +HP:0000559,Corneal scarring ,角膜瘢痕, , +HP:0000561,Absent eyelashes ,睫毛缺失,Lack of eyelashes. ,校对中... +HP:0000563,Keratoconus ,圆锥角膜,A cone-shaped deformity of the cornea characterized by the presence of corneal distortion secondary to thinning of the apex. ,校对中... +HP:0000564,Lacrimal duct atresia ,泪道闭锁,A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct. ,校对中... +HP:0000565,Esotropia ,内斜视,"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more. ",校对中... +HP:0000567,Chorioretinal coloboma ,脉络膜视网膜缺损,"Absence of a region of the retina, retinal pigment epithelium, and choroid. ",校对中... +HP:0000568,Microphthalmia ,小眼症,A developmental anomaly characterized by abnormal smallness of one or both eyes. ,校对中... +HP:0000570,Abnormal saccadic eye movements ,眼球扫视运动异常,An abnormality of eye movement characterized by impairment of fast (saccadic) eye movements. ,校对中... +HP:0000571,Hypometric saccades ,低测眼跳,"Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. ",校对中... +HP:0000572,Visual loss ,视力丧失,Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). ,校对中... +HP:0000573,Retinal hemorrhage ,视网膜出血,Hemorrhage occurring within the retina. ,校对中... +HP:0000574,Thick eyebrow ,眉毛浓密,Increased density/number and/or increased diameter of eyebrow hairs. ,校对中... +HP:0000575,Scotoma ,盲点,A regional and pathological increase of the light detection threshold in any region of the visual field surrounded by a field of normal or relatively well-preserved vision. ,校对中... +HP:0000576,Centrocecal scotoma ,中央盲点,A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape. ,校对中... +HP:0000577,Exotropia ,外斜视,A form of strabismus with one or both eyes deviated outward. ,校对中... +HP:0000579,Nasolacrimal duct obstruction ,鼻泪管阻塞,Blockage of the lacrimal duct. ,校对中... +HP:0000580,Pigmentary retinopathy ,色素性视网膜病,An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss. ,校对中... +HP:0000581,Blepharophimosis ,眼睑裂狭小,A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. ,校对中... +HP:0000582,Upslanted palpebral fissure ,睑裂上斜,"The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age. ",校对中... +HP:0000585,Band keratopathy ,带状角膜病,"An abnormality of the cornea characterized by the deposition of calcium in a band across the central cornea, leading to decreased vision, foreign body sensation, and ocular irritation. ",校对中... +HP:0000586,Shallow orbits ,浅眼眶,Reduced depth of the orbits associated with prominent-appearing ocular globes. ,校对中... +HP:0000587,Abnormality of the optic nerve ,视神经异常,Abnormality of the optic nerve. ,校对中... +HP:0000588,Optic disc coloboma ,视盘缺损,A cleft of the optic nerve that extends inferiorly. ,校对中... +HP:0000589,Coloboma ,眼球缺损,A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. ,校对中... +HP:0000590,Progressive external ophthalmoplegia ,进行性眼外肌麻痹,Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades. ,校对中... +HP:0000591,Abnormal sclera morphology ,巩膜异常,An abnormality of the sclera. ,校对中... +HP:0000592,Blue sclerae ,蓝巩膜,An abnormal bluish coloration of the sclera. ,校对中... +HP:0000593,Abnormal anterior chamber morphology ,前房形态异常,"Abnormality of the anterior chamber, which is the space in the eye that is behind the cornea and in front of the iris. ",校对中... +HP:0000594,Shallow anterior chamber ,浅前房,"Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased. ",校对中... +HP:0000597,Ophthalmoparesis ,眼肌瘫痪,Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. ,校对中... +HP:0000598,Abnormality of the ear ,耳部异常,An abnormality of the ear. ,校对中... +HP:0000599,Abnormality of the frontal hairline ,前额发际线异常,"An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. ",校对中... +HP:0000600,Abnormality of the pharynx ,咽部异常,"An anomaly of the pharynx, i.e., of the tubular structure extending from the base of the skull superiorly to the esophageal inlet inferiorly. ",校对中... +HP:0000601,Hypotelorism ,眼距过窄,"Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes). ",校对中... +HP:0000602,Ophthalmoplegia ,眼肌麻痹,Paralysis of one or more extraocular muscles that are responsible for eye movements. ,校对中... +HP:0000603,Central scotoma ,中心暗点,An area of depressed vision located at the point of fixation and that interferes with central vision. ,校对中... +HP:0000605,Supranuclear gaze palsy ,核上性凝视麻痹,"A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. ",校对中... +HP:0000607,Periorbital wrinkles ,眶周皱纹, , +HP:0000608,Macular degeneration ,黄斑变性,A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea. ,校对中... +HP:0000609,Optic nerve hypoplasia ,视神经发育不全,Underdevelopment of the optic nerve. ,校对中... +HP:0000610,Abnormal choroid morphology ,脉络膜形态异常,Any structural abnormality of the choroid. ,校对中... +HP:0000612,Iris coloboma ,虹膜缺损,A coloboma of the iris. ,校对中... +HP:0000613,Photophobia ,畏光,Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. ,校对中... +HP:0000614,Abnormal nasolacrimal system morphology ,鼻泪管系统的异常,"An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity. ",校对中... +HP:0000615,Abnormal pupil morphology ,瞳孔形态异常,An abnormality of the pupil. ,校对中... +HP:0000616,Miosis ,瞳孔缩小,Abnormal (non-physiological) constriction of the pupil. ,校对中... +HP:0000617,Abnormality of ocular smooth pursuit ,眼部平稳跟踪异常,An abnormality of eye movement characterized by impaired smooth-pursuit eye movements. ,校对中... +HP:0000618,Blindness ,失明,Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation. ,校对中... +HP:0000619,Impaired convergence ,辐凑受损,Reduced ability to turn the eyes inward in order to focus on a nearby object. ,校对中... +HP:0000620,Dacryocystitis ,泪囊炎,Inflammation of the nasolacrimal sac. ,校对中... +HP:0000621,Entropion ,眼睑内翻,An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital. ,校对中... +HP:0000622,Blurred vision ,视力模糊,Lack of sharpness of vision resulting in the inability to see fine detail. ,校对中... +HP:0000623,Supranuclear ophthalmoplegia ,核上性眼肌麻痹,A vertical gaze palsy with inability to direct the gaze of the eyes downwards. ,校对中... +HP:0000625,Eyelid coloboma ,眼睑缺损,A short discontinuity of the margin of the lower or upper eyelid. ,校对中... +HP:0000627,Posterior embryotoxon ,后胚胎环,A posterior embryotoxon is the presence of a prominent and anteriorly displaced line of Schwalbe. ,校对中... +HP:0000629,Periorbital fullness ,眶周丰满,Increase in periorbital soft tissue. ,校对中... +HP:0000630,Abnormal retinal artery morphology ,视网膜动脉形态异常, , +HP:0000632,Lacrimation abnormality ,泪液分泌异常,Abnormality of tear production. ,校对中... +HP:0000633,Decreased lacrimation ,泪液分泌减少,"Abnormally decreased lacrimation, that is, reduced ability to produce tears. ",校对中... +HP:0000634,Impaired ocular abduction ,眼外展障碍,An impaired ability of the eye to move in the outward direction (towards the side of the head). ,校对中... +HP:0000635,Blue irides ,蓝色虹膜,A markedly blue coloration of the iris. ,校对中... +HP:0000636,Upper eyelid coloboma ,上眼睑缺损,A short discontinuity of the margin of the upper eyelid. ,校对中... +HP:0000637,Long palpebral fissure ,睑裂增宽,"Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures. ",校对中... +HP:0000639,Nystagmus ,眼球震颤,"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. ",校对中... +HP:0000640,Gaze-evoked nystagmus ,凝视诱发眼震,Nystagmus made apparent by looking to the right or to the left. ,校对中... +HP:0000641,Dysmetric saccades ,不规则扫视,"The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results. ",校对中... +HP:0000642,Red-green dyschromatopsia ,红绿色觉障碍,Difficulty with discriminating red and green hues. ,校对中... +HP:0000643,Blepharospasm ,眼睑痉挛,"A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids. ",校对中... +HP:0000646,Amblyopia ,弱视,Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. ,校对中... +HP:0000647,Sclerocornea ,角膜巩膜化,"A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea. ",校对中... +HP:0000648,Optic atrophy ,视神经萎缩,Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. ,校对中... +HP:0000649,Abnormality of visual evoked potentials ,视觉诱发电位异常,"An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. ",校对中... +HP:0000650,Abnormal amplitude of pattern reversal visual evoked potentials ,图形视觉诱发电位振幅异常, , +HP:0000651,Diplopia ,复视,"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision. ",校对中... +HP:0000652,Lower eyelid coloboma ,下眼睑缺损,A short discontinuity of the margin of the lower eyelid. ,校对中... +HP:0000653,Sparse eyelashes ,睫毛稀疏,Decreased density/number of eyelashes. ,校对中... +HP:0000654,Decreased light- and dark-adapted electroretinogram amplitude ,光和暗适应视网膜电图振幅降低,Descreased amplitude of eletrical response upon electroretinography. ,校对中... +HP:0000656,Ectropion ,睑外翻,An outward turning (eversion) or rotation of the eyelid margin. ,校对中... +HP:0000657,Oculomotor apraxia ,眼球运动失用,"Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex. ",校对中... +HP:0000658,Eyelid apraxia ,眼睑失用症, , +HP:0000659,Peters anomaly ,Peters 综合征,"A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity. ",校对中... +HP:0000660,Lipemia retinalis ,视网膜脂血症,"A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature. ",校对中... +HP:0000661,Palpebral fissure narrowing on adduction ,睑裂内收狭窄, , +HP:0000662,Nyctalopia ,夜盲症,Inability to see well at night or in poor light. ,校对中... +HP:0000664,Synophrys ,连眉,Meeting of the medial eyebrows in the midline. ,校对中... +HP:0000666,Horizontal nystagmus ,水平眼震,Nystagmus consisting of horizontal to-and-fro eye movements. ,校对中... +HP:0000667,Phthisis bulbi ,眼萎缩,Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease. ,校对中... +HP:0000668,Hypodontia ,缺牙症,The absence of five or less teeth from the normal series by a failure to develop. ,校对中... +HP:0000670,Carious teeth ,龋齿,Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries. ,校对中... +HP:0000674,Anodontia ,无牙畸形,The absence of all teeth from the normal series by a failure to develop. ,校对中... +HP:0000675,Macrodontia of permanent maxillary central incisor ,上颌恒中切牙巨齿,Increased size of the maxillary central secondary incisor tooth. ,校对中... +HP:0000677,Oligodontia ,少牙畸形,The absence of six or more teeth from the normal series by a failureto develop. ,校对中... +HP:0000678,Dental crowding ,牙列拥挤,Changes in alignment of teeth in the dental arch ,校对中... +HP:0000679,Taurodontia ,牙髓腔增大,Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots. ,校对中... +HP:0000680,Delayed eruption of primary teeth ,乳牙萌出延迟,Delayed tooth eruption affecting the primary dentition. ,校对中... +HP:0000682,Abnormal dental enamel morphology ,牙釉质形态异常,An abnormality of the dental enamel. ,校对中... +HP:0000683,Grayish enamel ,灰色牙釉质,A grey discoloration of the dental enamel. ,校对中... +HP:0000684,Delayed eruption of teeth ,牙齿萌出延迟,"Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. ",校对中... +HP:0000685,Hypoplasia of teeth ,牙齿发育不全,Developmental hypoplasia of teeth. ,校对中... +HP:0000687,Widely spaced teeth ,牙间隙增宽,Increased spaces (diastemata) between most of the teeth in the same dental arch. ,校对中... +HP:0000689,Dental malocclusion ,牙齿错位咬合,"Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. ",校对中... +HP:0000690,Agenesis of maxillary lateral incisor ,上颌侧切牙发育不全,"Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. ",校对中... +HP:0000691,Microdontia ,小牙畸形,"Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. ",校对中... +HP:0000692,Tooth malposition ,牙列不齐,"Abnormal alignment, positioning, or spacing of the teeth, i.e., misaligned teeth. ",校对中... +HP:0000694,Odontodysplasia ,空壳牙,"The diagnosis odontodysplasia requires clinical and radiological exams, in which unusually large pulp chambers and large pulp room chambers with thin enamel and dentin are visible. It may affect either a single tooth or several teeth. The term regional odontodysplasia is used if several teeth are affected. It affects the deciduous and permanent dentitions in the maxilla, the mandible or both, although the maxilla is more frequently involved. A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin. ",校对中... +HP:0000695,Natal tooth ,胎生牙齿,A tooth present at birth or erupting within the first month of life. ,校对中... +HP:0000696,Delayed eruption of permanent teeth ,恒牙萌出延迟,Delayed tooth eruption affecting the secondary dentition. ,校对中... +HP:0000698,Conical tooth ,锥状齿,"An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally. ",校对中... +HP:0000699,Diastema ,牙间隙,Increased space between two adjacent teeth in the same dental arch. ,校对中... +HP:0000700,Periapical bone loss ,根尖周的骨质流失,Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root). ,校对中... +HP:0000703,Dentinogenesis imperfecta ,牙本质发育不全,Developmental dysplasia of dentin. ,校对中... +HP:0000704,Periodontitis ,牙周炎,Inflammation of the periodontium. ,校对中... +HP:0000705,Amelogenesis imperfecta ,牙釉质生长不全,A developmental dysplasia of the dental enamel. ,校对中... +HP:0000706,Eruption failure ,牙萌出失败,A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. ,校对中... +HP:0000707,Abnormality of the nervous system ,神经系统异常,An abnormality of the nervous system. ,校对中... +HP:0000708,Behavioral abnormality ,行为异常,"An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities. ",校对中... +HP:0000709,Psychosis ,精神病,A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs. ,校对中... +HP:0000710,Hyperorality ,口欲亢进,A tendency or compulsion to examine objects by mouth. ,校对中... +HP:0000711,Restlessness ,坐立不安,"A state of unease characterized by diffuse motor activity or motion subject to limited control, nonproductive or disorganized behavior, and subjective distress. ",校对中... +HP:0000712,Emotional lability ,情绪不稳,"Unstable emotional experiences and frequent mood changes; emotions that are easily aroused, intense, and/or out of proportion to events and circumstances. ",校对中... +HP:0000713,Agitation ,焦虑不安,A state of exceeding restlessness and excessive motor activity associated with mental distress or a feeling of inner tension. ,校对中... +HP:0000716,Depression ,抑郁,"Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior. ",校对中... +HP:0000717,Autism ,孤独症,"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV). ",校对中... +HP:0000718,Aggressive behavior ,攻击性行为,"Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself. ",校对中... +HP:0000719,Inappropriate behavior ,不适宜行为, , +HP:0000720,Mood swings ,情绪波动,"An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels. ",校对中... +HP:0000721,Lack of spontaneous play ,自发性游戏缺乏, , +HP:0000722,Obsessive-compulsive behavior ,强迫行为,"Recurrent obsessions or compulsions that are severe enough to be time consuming (i.e., they take more than 1 hour a day) or cause marked distress or significant impairment (DSM-IV). ",校对中... +HP:0000723,Restrictive behavior ,限制性行为,Behavior characterized by an abnormal limitation to few interests and activities. ,校对中... +HP:0000725,Psychotic episodes ,精神病发作, , +HP:0000726,Dementia ,痴呆,"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior. ",校对中... +HP:0000727,Frontal lobe dementia ,额叶痴呆, , +HP:0000728,Impaired ability to form peer relationships ,同伴关系建立能力障碍, , +HP:0000729,Autistic behavior ,自闭症行为,Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior. ,校对中... +HP:0000732,Inflexible adherence to routines or rituals ,恪守程序或习惯, , +HP:0000733,Stereotypy ,刻板性,"A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral. ",校对中... +HP:0000734,Disinhibition ,脱抑制,"A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment. ",校对中... +HP:0000735,Impaired social interactions ,社会交往障碍,"Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships. ",校对中... +HP:0000736,Short attention span ,注意力短暂,Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder. ,校对中... +HP:0000737,Irritability ,易激惹,"A proneness to anger, i.e., a condition of being easily bothered or annoyed. ",校对中... +HP:0000738,Hallucinations ,幻觉,"Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space. ",校对中... +HP:0000739,Anxiety ,焦虑,"Intense feelings of nervousness, tenseness, or panic, often in reaction to interpersonal stresses; worry about the negative effects of past unpleasant experiences and future negative possibilities; feeling fearful, apprehensive, or threatened by uncertainty; fears of falling apart or losing control. ",校对中... +HP:0000740,Episodic paroxysmal anxiety ,情景性阵发性焦虑,"Recurrent attacks of severe anxiety, whose occurence is not restricted to any particular situation or set of circumstances and is therefore unpredictable. ",校对中... +HP:0000741,Apathy ,情感淡漠, , +HP:0000742,Self-mutilation ,自残, , +HP:0000743,Frontal release signs ,额叶释放征象,Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. ,校对中... +HP:0000744,Low frustration tolerance ,低挫折承受力,The feeling of frustration can be defined as an emotional reaction that occurs if a desired goal is not achieved. Frustration intolerance is defined as an age-inappropriate response to frustration characterized by crying or temper tantrums (in children) or aggressive or other undesirable behaviors. ,校对中... +HP:0000746,Delusions ,妄想,A false belief that is held despite evidence to the contrary. ,校对中... +HP:0000748,Inappropriate laughter ,不适宜的发笑, , +HP:0000749,Paroxysmal bursts of laughter ,阵发性大笑, , +HP:0000750,Delayed speech and language development ,语言发育迟缓,A degree of language development that is significantly below the norm for a child of a specified age. ,校对中... +HP:0000751,Personality changes ,性格改变,"An abnormal shift in patterns of thinking, acting, or feeling. ",校对中... +HP:0000752,Hyperactivity ,多动症,"Hyperactivity is a state of constantly being unusually or abnormally active, including in situations in which it is not appropriate. ",校对中... +HP:0000756,Agoraphobia ,广场恐怖症,"A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather. ",校对中... +HP:0000757,Lack of insight ,自知力缺乏, , +HP:0000758,Impaired use of nonverbal behaviors ,非言语行为应用障碍,"Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures. ",校对中... +HP:0000759,Abnormal peripheral nervous system morphology ,周围神经系统形态异常,"A structural abnormality of the peripheral nervous system, which is composed of the nerves that lead to or branch off from the central nervous system. This includes the cranial nerves (olfactory and optic nerves are technically part of the central nervous system). ",校对中... +HP:0000762,Decreased nerve conduction velocity ,神经传导速度降低,A reduction in the speed at which electrical signals propagate along the axon of a neuron. ,校对中... +HP:0000763,Sensory neuropathy ,感觉神经病,Peripheral neuropathy affecting the sensory nerves. ,校对中... +HP:0000764,Peripheral axonal degeneration ,外围神经轴索变性,Progressive deterioration of peripheral axons. ,校对中... +HP:0000765,Abnormal thorax morphology ,胸廓形态异常,"Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs). ",校对中... +HP:0000766,Abnormal sternum morphology ,胸骨形态异常,"An anomaly of the sternum, also known as the breastbone. ",校对中... +HP:0000767,Pectus excavatum ,漏斗胸,"A defect of the chest wall characterized by a depression of the sternum, giving the chest (""pectus"") a caved-in (""excavatum"") appearance. ",校对中... +HP:0000768,Pectus carinatum ,鸡胸,A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. ,校对中... +HP:0000771,Gynecomastia ,男子女性乳房发育,Abnormal development of large mammary glands in males resulting in breast enlargement. ,校对中... +HP:0000772,Abnormality of the ribs ,肋骨异常,An anomaly of the rib. ,校对中... +HP:0000773,Short ribs ,短肋,Reduced rib length. ,校对中... +HP:0000774,Narrow chest ,窄胸,"Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. ",校对中... +HP:0000775,Abnormality of the diaphragm ,膈肌异常,"Any abnormality of the diaphragm, the sheet of skeletal muscle that separates the thoracic cavity from the abdominal cavity. ",校对中... +HP:0000776,Congenital diaphragmatic hernia ,先天性膈疝,The presence of a hernia of the diaphragm present at birth. ,校对中... +HP:0000777,Abnormality of the thymus ,胸腺异常,"Abnormality of the thymus, an organ located in the upper anterior portion of the chest cavity just behind the sternum and whose main function is to provide an environment for T lymphocyte maturation. ",校对中... +HP:0000778,Hypoplasia of the thymus ,胸腺发育不全,Underdevelopment of the thymus. ,校对中... +HP:0000782,Abnormal scapula morphology ,肩胛骨形态异常,"Any abnormality of the scapula, also known as the shoulder blade. ",校对中... +HP:0000786,Primary amenorrhea ,原发性闭经, , +HP:0000787,Nephrolithiasis ,肾结石,The presence of calculi (stones) in the kidneys. ,校对中... +HP:0000789,Infertility ,不孕症/不育症, ,校对中... +HP:0000790,Hematuria ,血尿,The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine). ,校对中... +HP:0000791,Uric acid nephrolithiasis ,肾尿酸结石,The presence of uric acid-containing calculi (stones) in the kidneys. ,校对中... +HP:0000793,Membranoproliferative glomerulonephritis ,膜增生性肾小球肾炎,"A type of glomerulonephritis characterized by diffuse mesangial cell proliferation and the thickening of capillary walls due to subendothelial extension of the mesangium. The term membranoproliferative glomerulonephritis is often employed to denote a general pattern of glomerular injury seen in a variety of disease processes that share a common pathogenetic mechanism, rather than to describe a single disease entity ",校对中... +HP:0000794,IgA deposition in the glomerulus ,肾小球IgA沉积,The presence of immunoglobulin A deposits in the glomerulus. ,校对中... +HP:0000795,Abnormality of the urethra ,尿道异常,"An abnormality of the urethra, i.e., of the tube which connects the urinary bladder to the outside of the body. ",校对中... +HP:0000796,Urethral obstruction ,尿道梗阻,Obstruction of the flow of urine through the urethra. ,校对中... +HP:0000798,Oligospermia ,少精症,"Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen. ",校对中... +HP:0000799,Renal steatosis ,肾脂肪变性,Abnormal fat accumulation in the kidneys. ,校对中... +HP:0000800,Cystic renal dysplasia ,囊性肾发育不良, , +HP:0000802,Impotence ,阳痿,Inability to develop or maintain an erection of the penis. ,校对中... +HP:0000803,Renal cortical cysts ,肾皮质囊肿,Cysts of the cortex of the kidney. ,校对中... +HP:0000804,Xanthine nephrolithiasis ,肾黄嘌呤结石,The presence of xanthine-containing calculi (stones) in the kidneys. ,校对中... +HP:0000805,Enuresis ,遗尿症,Lack of the ability to control the urinary bladder leading to involuntary urination at an age where control of the bladder should already be possible. ,校对中... +HP:0000807,Glandular hypospadias ,阴茎头型尿道下裂, , +HP:0000808,Penoscrotal hypospadias ,阴茎阴囊型尿道下裂,A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum. ,校对中... +HP:0000811,Abnormal external genitalia ,外生殖器异常, , +HP:0000812,Abnormal internal genitalia ,内生殖器异常,"An anomaly of the adnexa, uterus, and vagina (in female) or seminal tract and prostate (in male). ",校对中... +HP:0000813,Bicornuate uterus ,双角子宫,The presence of a bicornuate uterus. ,校对中... +HP:0000815,Hypergonadotropic hypogonadism ,高促性腺激素性性腺功能减退症,Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay. ,校对中... +HP:0000816,Abnormality of Krebs cycle metabolism ,Krebs循环代谢异常,An abnormality of the tricarboxylic acid cycle. ,校对中... +HP:0000817,Poor eye contact ,眼神躲避,Difficulty in looking at another person in the eye. ,校对中... +HP:0000818,Abnormality of the endocrine system ,内分泌系统异常,An abnormality of the endocrine system. ,校对中... +HP:0000819,Diabetes mellitus ,糖尿病,A group of abnormalities characterized by hyperglycemia and glucose intolerance. ,校对中... +HP:0000820,Abnormality of the thyroid gland ,甲状腺异常,An abnormality of the thyroid gland. ,校对中... +HP:0000821,Hypothyroidism ,甲状腺功能减退症,Deficiency of thyroid hormone. ,校对中... +HP:0000822,Hypertension ,高血压,The presence of chronic increased pressure in the systemic arterial system. ,校对中... +HP:0000823,Delayed puberty ,青春期发育延迟,Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. ,校对中... +HP:0000824,Decreased response to growth hormone stimuation test ,对生长激素刺激试验的反应降低,Insufficient responses to growth hormone (GH) provocation tests. GH deficiency is defined as a serum peak GH concentration less than 10 ng/mL on provocation with a combination of at least two separate stimulation tests. ,校对中... +HP:0000825,Hyperinsulinemic hypoglycemia ,高胰岛素性低血糖,An increased concentration of insulin combined with a decreased concentration of glucose in the blood. ,校对中... +HP:0000826,Precocious puberty ,性早熟,"The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. ",校对中... +HP:0000828,Abnormality of the parathyroid gland ,甲状旁腺异常,An abnormality of the parathyroid gland. ,校对中... +HP:0000829,Hypoparathyroidism ,甲状旁腺功能减退症,A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia. ,校对中... +HP:0000830,Anterior hypopituitarism ,垂体前叶功能减退症,"A condition of reduced function of the anterior pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone. ",校对中... +HP:0000831,Insulin-resistant diabetes mellitus ,胰岛素抵抗性糖尿病,"A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels. ",校对中... +HP:0000832,Primary hypothyroidism ,原发性甲状腺功能减退症,A type of hypothyroidism that results from a defect in the thyroid gland. ,校对中... +HP:0000834,Abnormality of the adrenal glands ,肾上腺异常,"Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. ",校对中... +HP:0000835,Adrenal hypoplasia ,肾上腺发育不良,Developmental hypoplasia of the adrenal glands. ,校对中... +HP:0000836,Hyperthyroidism ,甲状腺功能亢进症,"An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3). ",校对中... +HP:0000837,Increased circulating gonadotropin level ,促性腺激素水平升高,"Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland. ",校对中... +HP:0000839,Pituitary dwarfism ,垂体性侏儒症,"A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones. ",校对中... +HP:0000840,Adrenogenital syndrome ,肾上腺性征异常综合征,"Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. ",校对中... +HP:0000841,Hyperactive renin-angiotensin system ,肾素-血管紧张素系统亢进,"An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms. ",校对中... +HP:0000842,Hyperinsulinemia ,高胰岛素血症,An increased concentration of insulin in the blood. ,校对中... +HP:0000843,Hyperparathyroidism ,甲状旁腺功能亢进症,Excessive production of parathyroid hormone (PTH) by the parathyroid glands. ,校对中... +HP:0000845,Elevated circulating growth hormone concentration ,生长激素水平升高,"Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness. ",校对中... +HP:0000846,Adrenal insufficiency ,肾上腺功能不全,Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands. ,校对中... +HP:0000848,Increased circulating renin level ,血肾素水平升高,An increased level of renin in the blood. ,校对中... +HP:0000849,Adrenocortical abnormality ,肾上腺皮质异常, , +HP:0000851,Congenital hypothyroidism ,先天性甲状腺功能减退症,A type of hypothyroidism with congenital onset. ,校对中... +HP:0000852,Pseudohypoparathyroidism ,假性甲状旁腺功能减退症,"A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone. ",校对中... +HP:0000853,Goiter ,甲状腺肿,An enlargement of the thyroid gland. ,校对中... +HP:0000854,Thyroid adenoma ,甲状腺腺瘤,The presence of a adenoma of the thyroid gland. ,校对中... +HP:0000855,Insulin resistance ,胰岛素抵抗,"Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. ",校对中... +HP:0000857,Neonatal insulin-dependent diabetes mellitus ,新生儿胰岛素依赖性糖尿病, , +HP:0000858,Irregular menstruation ,月经不调,Abnormally high variation in the amount of time between periods. ,校对中... +HP:0000859,Hyperaldosteronism ,醛固酮增多症,Overproduction of the mineralocorticoid aldosterone by the adrenal cortex. ,校对中... +HP:0000860,Parathyroid hypoplasia ,甲状旁腺发育不全,Developmental hypoplasia of the parathyroid gland. ,校对中... +HP:0000863,Central diabetes insipidus ,中枢性尿崩症,A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus. ,校对中... +HP:0000864,Abnormality of the hypothalamus-pituitary axis ,下丘脑-垂体轴异常,"Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit. ",校对中... +HP:0000866,Euthyroid multinodular goiter ,甲状腺功能正常结节性甲状腺肿, , +HP:0000867,Secondary hyperparathyroidism ,继发性甲状旁腺功能亢进症,Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia. ,校对中... +HP:0000868,Decreased fertility in females ,女性生育能力降低, , +HP:0000869,Secondary amenorrhea ,继发性闭经, , +HP:0000870,Increased circulating prolactin concentration ,泌乳素水平升高,The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy. ,校对中... +HP:0000871,Panhypopituitarism ,全垂体功能减退,"A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin). ",校对中... +HP:0000872,Hashimoto thyroiditis ,桥本甲状腺炎,"A chronic, autoimmune type of thyroiditis associated with hypothyroidism. ",校对中... +HP:0000873,Diabetes insipidus ,尿崩症,A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus). ,校对中... +HP:0000875,Episodic hypertension ,阵发性高血压, , +HP:0000876,Oligomenorrhea ,月经稀发,Infrequent menses (less than 6 per year or more than 35 days between cycles). ,校对中... +HP:0000877,Insulin-resistant diabetes mellitus at puberty ,青春期胰岛素抵抗性糖尿病, , +HP:0000878,11 pairs of ribs ,11对肋骨,Presence of only 11 pairs of ribs. ,校对中... +HP:0000879,Short sternum ,短胸骨,Decreased inferosuperior length of the sternum. ,校对中... +HP:0000882,Hypoplastic scapulae ,肩胛骨发育不全,Underdeveloped scapula. ,校对中... +HP:0000883,Thin ribs ,瘦小肋骨,Ribs with a reduced diameter. ,校对中... +HP:0000884,Prominent sternum ,胸骨突出, , +HP:0000885,Broad ribs ,宽肋骨,Increased width of ribs ,校对中... +HP:0000886,Deformed rib cage ,胸廓变形,Malformation of the rib cage. ,校对中... +HP:0000887,Cupped ribs ,杯状肋骨端,"Wide, concave rib end. ",校对中... +HP:0000888,Horizontal ribs ,横位肋骨,"A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12. ",校对中... +HP:0000889,Abnormal clavicle morphology ,锁骨形态异常,Any abnormality of the clavicles (collar bones). ,校对中... +HP:0000890,Long clavicles ,长锁骨,Increased length of the clavicles. ,校对中... +HP:0000891,Cervical ribs ,颈肋, , +HP:0000892,Bifid ribs ,肋骨端分叉,"A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray. ",校对中... +HP:0000893,Bulging of the costochondral junction ,肋软骨交界处隆起,Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage. ,校对中... +HP:0000894,Short clavicles ,短锁骨,Reduced length of the clavicles. ,校对中... +HP:0000895,Lateral clavicle hook ,锁骨外侧钩,An excessive upward convexity of the lateral clavicle. ,校对中... +HP:0000896,Rib exostoses ,肋骨外生骨疣,Multiple circumscribed bony excrescences located in the ribs. ,校对中... +HP:0000897,Rachitic rosary ,佝偻病念珠,"A row of beadlike prominences at the junction of a rib and its cartilage (i.e., enlarged costochondral joints), resembling a rosary. ",校对中... +HP:0000900,Thickened ribs ,肋骨增厚,Increased thickness (diameter) of ribs. ,校对中... +HP:0000902,Rib fusion ,肋骨融合,Complete or partial merging of adjacent ribs. ,校对中... +HP:0000904,Flaring of rib cage ,喇叭状胸廓,"The presence of wide, concave anterior rib ends. ",校对中... +HP:0000905,Progressive clavicular acroosteolysis ,锁骨远端进行性骨吸收,Progressive bone resorption in the distal part of the clavicle. ,校对中... +HP:0000907,Anterior rib cupping ,杯状前肋,"Wide, concave anterior rib end. ",校对中... +HP:0000910,Wide-cupped costochondral junctions ,宽杯状的肋软骨交界处, , +HP:0000911,Flat glenoid fossa ,关节窝浅平,"Abnormally flat configuration of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. ",校对中... +HP:0000912,Sprengel anomaly ,先天性肩胛骨向上移位（Sprengel畸形）,"A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). ",校对中... +HP:0000913,Posterior rib fusion ,肋骨后端融合,Complete or partial merging of the posterior part of adjacent ribs. ,校对中... +HP:0000914,Shield chest ,盾状胸,A broad chest. ,校对中... +HP:0000915,Pectus excavatum of inferior sternum ,下段漏斗胸,Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum. ,校对中... +HP:0000916,Broad clavicles ,锁骨增宽,Increased width (cross-sectional diameter) of the clavicles. ,校对中... +HP:0000917,Superior pectus carinatum ,上段鸡胸,Pectus carinatum affecting primarily the superior part of the sternum. ,校对中... +HP:0000918,Scapular exostoses ,肩胛外生骨疣,The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage. ,校对中... +HP:0000919,Abnormality of the costochondral junction ,肋软骨交界处异常,"Any anomaly of the costochondral junction. The costochondral junctions are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. ",校对中... +HP:0000920,Enlargement of the costochondral junction ,肋软骨交界处膨大,"Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum. ",校对中... +HP:0000921,Missing ribs ,肋骨缺失,A developmental anomaly with absence of one or more ribs. ,校对中... +HP:0000922,Posterior rib cupping ,杯状后肋,"Wide, concave posterior rib end. ",校对中... +HP:0000923,Beaded ribs ,串珠肋,The presence of a row of multiple rounded expansions (beadlike prominences) at the junction of a rib and its cartilage. ,校对中... +HP:0000924,Abnormality of the skeletal system ,骨骼系统异常,An abnormality of the skeletal system. ,校对中... +HP:0000925,Abnormality of the vertebral column ,脊柱异常,Any abnormality of the vertebral column. ,校对中... +HP:0000926,Platyspondyly ,扁平椎,A flattened vertebral body shape with reduced distance between the vertebral endplates. ,校对中... +HP:0000927,Abnormality of skeletal maturation ,骨骼成熟异常,"The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. ",校对中... +HP:0000929,Abnormal skull morphology ,颅骨形态异常,"An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones. ",校对中... +HP:0000932,Abnormal posterior cranial fossa morphology ,后颅窝形态异常,"An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum. ",校对中... +HP:0000934,Chondrocalcinosis ,软骨钙质沉着症,Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) . ,校对中... +HP:0000935,Thickened cortex of long bones ,长骨骨皮质增厚,Abnormal thickening of the cortex of long bones. ,校对中... +HP:0000938,Osteopenia ,骨质减少,Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. ,校对中... +HP:0000939,Osteoporosis ,骨质疏松,"Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). ",校对中... +HP:0000940,Abnormal diaphysis morphology ,骨干形态异常,"An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone. ",校对中... +HP:0000941,Short diaphyses ,短骨干, , +HP:0000943,Dysostosis multiplex ,多发性骨发育不全, , +HP:0000944,Abnormality of the metaphysis ,干骺端异常,"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. ",校对中... +HP:0000946,Hypoplastic ilia ,髂骨发育不全,Underdevelopment of the ilium. ,校对中... +HP:0000947,Dumbbell-shaped long bone ,哑铃状长骨,"An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses. ",校对中... +HP:0000951,Abnormality of the skin ,皮肤异常,An abnormality of the skin. ,校对中... +HP:0000952,Jaundice ,黄疸,"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. ",校对中... +HP:0000953,Hyperpigmentation of the skin ,皮肤色素沉着,A darkening of the skin related to an increase in melanin production and deposition. ,校对中... +HP:0000954,Single transverse palmar crease ,单独掌横纹,The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. ,校对中... +HP:0000956,Acanthosis nigricans ,黑棘皮病,"A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck. ",校对中... +HP:0000957,Cafe-au-lait spot ,牛奶咖啡斑,Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children. ,校对中... +HP:0000958,Dry skin ,干性皮肤,Skin characterized by the lack of natural or normal moisture. ,校对中... +HP:0000960,Sacral dimple ,骶骨浅窝,A cutaneous indentation resulting from tethering of the skin to underlying structures (bone) of the intergluteal cleft. ,校对中... +HP:0000961,Cyanosis ,紫绀,Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood. ,校对中... +HP:0000962,Hyperkeratosis ,角化过度,"Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum. ",校对中... +HP:0000963,Thin skin ,皮肤变薄,"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin. ",校对中... +HP:0000964,Eczema ,湿疹,"Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding. ",校对中... +HP:0000965,Cutis marmorata ,大理石样皮肤,"A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. ",校对中... +HP:0000966,Hypohidrosis ,少汗症,Abnormally diminished capacity to sweat. ,校对中... +HP:0000967,Petechiae ,瘀点,"Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae. ",校对中... +HP:0000968,Ectodermal dysplasia ,外胚层发育不良,"Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. ",校对中... +HP:0000969,Edema ,水肿,"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. ",校对中... +HP:0000970,Anhidrosis ,无汗症,Inability to sweat. ,校对中... +HP:0000972,Palmoplantar hyperkeratosis ,掌跖角化,Abnormal thickening of the skin localized to the palm of the hand and the sole of the foot. ,校对中... +HP:0000973,Cutis laxa ,皮肤松弛症,"Wrinkled, redundant, inelastic and sagging skin. ",校对中... +HP:0000974,Hyperextensible skin ,皮肤过度伸展,"A condition in which the skin can be stretched beyond normal, and then returns to its initial position. ",校对中... +HP:0000975,Hyperhidrosis ,多汗症,Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. ,校对中... +HP:0000976,Eczematoid dermatitis ,湿疹样皮炎, , +HP:0000977,Soft skin ,皮肤柔软,Subjective impression of increased softness upon palpitation of the skin. ,校对中... +HP:0000978,Bruising susceptibility ,瘀斑易感性,An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. ,校对中... +HP:0000979,Purpura ,紫癜,"Purpura (from Latin: purpura, meaning ""purple"") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae. ",校对中... +HP:0000980,Pallor ,苍白圈,Abnormally pale skin. ,校对中... +HP:0000982,Palmoplantar keratoderma ,掌跖角化症,Abnormal thickening of the skin of the palms of the hands and the soles of the feet. ,校对中... +HP:0000987,Atypical scarring of skin ,非典型皮肤瘢痕,Atypically scarred skin . ,校对中... +HP:0000988,Skin rash ,皮疹,A red eruption of the skin. ,校对中... +HP:0000989,Pruritus ,瘙痒,Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. ,校对中... +HP:0000991,Xanthomatosis ,黄瘤病,"The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin. ",校对中... +HP:0000992,Cutaneous photosensitivity ,光感性皮肤,An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. ,校对中... +HP:0000993,Molluscoid pseudotumors ,软假瘤,"Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees. ",校对中... +HP:0000995,Melanocytic nevus ,黑素细胞痣,"A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. ",校对中... +HP:0000996,Facial capillary hemangioma ,面部毛细血管瘤,"Hemangioma, a benign tumor of the vascular endothelial cells with small endothelial spaces, occurring in the face. ",校对中... +HP:0000997,Axillary freckling ,腋窝雀斑,"The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. ",校对中... +HP:0000998,Hypertrichosis ,多毛症,Hypertrichosis is increased hair growth that is abnormal in quantity or location. ,校对中... +HP:0000999,Pyoderma ,脓皮病,Any manifestation of a skin disease associated with the production of pus. ,校对中... +HP:0001000,Abnormality of skin pigmentation ,皮肤着色异常,An abnormality of the pigmentation of the skin. ,校对中... +HP:0001001,Abnormality of subcutaneous fat tissue ,皮下脂肪组织异常, , +HP:0001003,Multiple lentigines ,多发性雀斑样痣,"Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots. ",校对中... +HP:0001004,Lymphedema ,淋巴水肿,Localized fluid retention and tissue swelling caused by a compromised lymphatic system. ,校对中... +HP:0001005,Dermatological manifestations of systemic disorders ,系统性疾病的皮肤表现, , +HP:0001007,Hirsutism ,多毛症；女性多毛症,Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair). ,校对中... +HP:0001008,Accumulation of melanosomes in melanocytes ,黑素细胞中黑素小体聚集, , +HP:0001009,Telangiectasia ,毛细血管扩张,"Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips. ",校对中... +HP:0001010,Hypopigmentation of the skin ,皮肤色素减退,A reduction of skin color related to a decrease in melanin production and deposition. ,校对中... +HP:0001012,Multiple lipomas ,多发性脂肪瘤,The presence of multiple lipomas (a type of benign tissue made of fatty tissue). ,校对中... +HP:0001013,Eruptive xanthomas ,发疹性黄瘤,"Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur. ",校对中... +HP:0001014,Angiokeratoma ,血管角皮瘤,"A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot. ",校对中... +HP:0001015,Prominent superficial veins ,浅表静脉隆凸,"A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal. ",校对中... +HP:0001017,Anemic pallor ,贫血性白斑,A type of pallor that is secondary to the presence of anemia. ,校对中... +HP:0001018,Abnormal palmar dermatoglyphics ,手掌皮纹异常,"An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the skin of palm of hand. ",校对中... +HP:0001019,Erythroderma ,剥脱性皮炎,"An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. ",校对中... +HP:0001022,Albinism ,白化病,"An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). ",校对中... +HP:0001024,Skin dimple over apex of long bone angulation ,长骨角顶点处的皮肤酒窝征, , +HP:0001025,Urticaria ,荨麻疹,"Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. ",校对中... +HP:0001026,Penetrating foot ulcers ,足部穿通性溃疡, , +HP:0001027,"Soft, doughy skin ",面团样柔性皮肤,"A skin texture that is unusually soft (and may feel silky), and has a malleable consistency resembling that of dough. ",校对中... +HP:0001028,Hemangioma ,血管瘤,"A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). ",校对中... +HP:0001029,Poikiloderma ,皮肤异色症,"Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias. ",校对中... +HP:0001030,Fragile skin ,敏感性皮肤,Skin that splits easily with minimal injury. ,校对中... +HP:0001031,Subcutaneous lipoma ,皮下脂肪瘤,The presence of subcutaneous lipoma. ,校对中... +HP:0001032,Absent distal interphalangeal creases ,远端指间关节皮肤皱褶缺如,Absence of the distal interphalangeal flexion creases of the fingers. ,校对中... +HP:0001033,Facial flushing after alcohol intake ,酒后面部潮红, , +HP:0001034,Hypermelanotic macule ,色素沉着斑,A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size. ,校对中... +HP:0001036,Parakeratosis ,角化不全,"Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes. ",校对中... +HP:0001038,Warfarin-induced skin necrosis ,华法林诱导性皮肤坏死, , +HP:0001039,Atheroeruptive xanthoma ,粥样发疹性黄瘤, , +HP:0001040,Multiple pterygia ,多发翼状胬肉, , +HP:0001041,Facial erythema ,面部红斑,"Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. ",校对中... +HP:0001042,High axial triradius ,高位轴三角掌纹, , +HP:0001043,Prominent scalp veins ,头皮静脉隆凸, , +HP:0001045,Vitiligo ,白癜风, , +HP:0001046,Intermittent jaundice ,间歇性黄疸,"Jaundice that is sometimes present, sometimes not. ",校对中... +HP:0001047,Atopic dermatitis ,特应性皮炎,"Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. ",校对中... +HP:0001048,Cavernous hemangioma ,海绵状血管瘤,The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma. ,校对中... +HP:0001050,Plethora ,多血症（红细胞增多症）, , +HP:0001051,Seborrheic dermatitis ,脂溢性皮炎,"Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk. ",校对中... +HP:0001052,Nevus flammeus ,鲜红斑痣,A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin. ,校对中... +HP:0001053,Hypopigmented skin patches ,皮肤色素减退斑, , +HP:0001054,Numerous nevi ,多发性色素痣, , +HP:0001055,Erysipelas ,丹毒,"Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system. ",校对中... +HP:0001056,Milia ,粟丘疹,Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. ,校对中... +HP:0001057,Aplasia cutis congenita ,先天性表皮发育不全,"A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. ",校对中... +HP:0001058,Poor wound healing ,伤口愈合不良,A reduced ability to heal cutaneous wounds. ,校对中... +HP:0001059,Pterygium ,翼状胬肉,"Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits. ",校对中... +HP:0001060,Axillary pterygium ,腋窝翼状赘肉,Presence of a cutaneous membrane (flap) in the armpit. ,校对中... +HP:0001061,Acne ,痤疮,"A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts). ",校对中... +HP:0001062,Atypical nevus ,非典型痣（>5毫米且有不规则的边缘及色素沉着）,"A large pigmented lesion measuring 5-15 mm in diameter with irregular, notched, and ill defined border and with color that may range from tan to dark brown to pink. ",校对中... +HP:0001063,Acrocyanosis ,手足发绀, , +HP:0001065,Striae distensae ,萎缩纹,"Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders. ",校对中... +HP:0001067,Neurofibromas ,神经纤维瘤,The presence of multiple cutaneous neurofibromas. ,校对中... +HP:0001069,Episodic hyperhidrosis ,发作性多汗症,Intermittent episodes of abnormally increased perspiration. ,校对中... +HP:0001070,Mottled pigmentation ,斑驳病,Patchy and irregular skin pigmentation. ,校对中... +HP:0001071,Angiokeratoma corporis diffusum ,弥漫性血管角皮瘤, , +HP:0001072,Thickened skin ,皮肤增厚,Laminar thickening of skin. ,校对中... +HP:0001073,Cigarette-paper scars ,卷烟纸样瘢痕,Thin (atrophic) and wide scars. ,校对中... +HP:0001074,Atypical nevi in non-sun exposed areas ,非曝露部位不典型痣, , +HP:0001075,Atrophic scars ,萎缩性瘢痕,"Scars that form a depression compared to the level of the surrounding skin because of damage to the collagen, fat or other tissues below the skin. ",校对中... +HP:0001076,Glabellar hemangioma ,眉间血管瘤, , +HP:0001080,Biliary tract abnormality ,胆道异常,An abnormality of the biliary tree. ,校对中... +HP:0001081,Cholelithiasis ,胆石症,"Hard, pebble-like deposits that form within the gallbladder. ",校对中... +HP:0001082,Cholecystitis ,胆囊炎,The presence of inflammatory changes in the gallbladder. ,校对中... +HP:0001083,Ectopia lentis ,晶状体异位,"Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation. ",校对中... +HP:0001084,Corneal arcus ,角膜环,"A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years. ",校对中... +HP:0001085,Papilledema ,视乳头水肿,Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure. ,校对中... +HP:0001087,Developmental glaucoma ,发育性青光眼,Glaucoma which forms during the early years of a child's life is called developmental or congenital glaucoma. ,校对中... +HP:0001088,Brushfield spots ,Brushfield点,The presence of whitish spots in a ring-like arrangement at the periphery of the iris. ,校对中... +HP:0001089,Iris atrophy ,虹膜萎缩,Loss of iris tissue (atrophy) ,校对中... +HP:0001090,Abnormally large globe ,大眼球,Diffusely large eye (with megalocornea) without glaucoma. ,校对中... +HP:0001092,Absent lacrimal punctum ,泪小点缺失,No identifiable superior and/or inferior lacrimal punctum. ,校对中... +HP:0001093,Optic nerve dysplasia ,视神经发育不良,The presence of developmental dysplasia of the optic nerve. ,校对中... +HP:0001094,Iridocyclitis ,虹膜睫状体炎,"A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body. ",校对中... +HP:0001095,Hypertensive retinopathy ,高血压性视网膜病变, , +HP:0001096,Keratoconjunctivitis ,角膜结膜炎,Inflammation of the cornea and conjunctiva. ,校对中... +HP:0001097,Keratoconjunctivitis sicca ,干燥性角结膜炎,"Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids. ",校对中... +HP:0001099,Fundus atrophy ,眼底萎缩, , +HP:0001100,Heterochromia iridis ,虹膜异色,Heterochromia iridis is a difference in the color of the iris in the two eyes. ,校对中... +HP:0001101,Iritis ,虹膜炎,Inflammation of the iris. ,校对中... +HP:0001102,Angioid streaks of the fundus ,眼底血管样条纹,"Irregular lines in the deep retina that are typically configured in a radiating fashion and emanate from the optic disc. Angioid streaks are crack-like dehiscences in abnormally thickened and calcified Bruch's membrane, resulting in atrophy of the overlying retinal pigment epithelium. They may be associated with a number of endocrine, metabolic, and connective tissue abnormalities but are frequently idiopathic. ",校对中... +HP:0001103,Abnormal macular morphology ,黄斑形态异常,"A structural abnormality of the macula lutea, which is an oval-shaped highly pigmented yellow spot near the center of the retina. ",校对中... +HP:0001104,Macular hypoplasia ,黄斑发育不良,Underdevelopment of the macula lutea. ,校对中... +HP:0001105,Retinal atrophy ,视网膜萎缩,"Well-demarcated area(s) of partial or complete depigmentation in the fundus, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. ",校对中... +HP:0001106,Periorbital hyperpigmentation ,眼眶周围色素沉着,Increased pigmentation of the skin in the region surrounding the orbit of the eye. ,校对中... +HP:0001107,Ocular albinism ,眼白化病,An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. ,校对中... +HP:0001112,Leber optic atrophy ,Leber视神经萎缩,Degeneration of retinal ganglion cells and their axons. ,校对中... +HP:0001114,Xanthelasma ,睑黄瘤,The presence of xanthomata in the skin of the eyelid. ,校对中... +HP:0001115,Posterior polar cataract ,后极性白内障,A polar cataract that affects the posterior pole of the lens. ,校对中... +HP:0001116,Macular coloboma ,黄斑缺损,"A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented. ",校对中... +HP:0001117,Sudden loss of visual acuity ,突发性视力丧失,Severe loss of visual acuity within hours or days. This is characteristic of Leber hereditary optic neuropathy. ,校对中... +HP:0001118,Juvenile cataract ,青少年型白内障,A type of cataract that is not apparent at birth but that arises in childhood or adolescence. ,校对中... +HP:0001119,Keratoglobus ,球形角膜,"Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea. ",校对中... +HP:0001123,Visual field defect ,视野缺损, , +HP:0001125,Transient unilateral blurring of vision ,一过性视物模糊,Transient blurring of vision associated with the aura phase of migraine. ,校对中... +HP:0001126,Cryptophthalmos ,隐眼,"Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity. ",校对中... +HP:0001128,Trichiasis ,倒睫,Inversion and rubbing of the eyelashes against the globe of the eye. ,校对中... +HP:0001129,Large central visual field defect ,中央大视野缺损, , +HP:0001131,Corneal dystrophy ,角膜营养不良,An abnormality of the cornea that is characterized by opacity of one or parts of the cornea. ,校对中... +HP:0001132,Lens subluxation ,晶状体半脱位,Partial dislocation of the lens of the eye. ,校对中... +HP:0001133,Constriction of peripheral visual field ,周边性视野狭窄,An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye. ,校对中... +HP:0001134,Anterior polar cataract ,前极白内障,A polar cataract that affects the anterior pole of the lens. ,校对中... +HP:0001135,Chorioretinal dystrophy ,脉络膜视网膜营养不良, , +HP:0001136,Retinal arteriolar tortuosity ,视网膜小动脉迂曲,The presence of an increased number of twists and turns of the retinal arterioles. ,校对中... +HP:0001137,Alternating esotropia ,交替性内斜视,Esotropia in which either eye may be used for fixation. ,校对中... +HP:0001138,Optic neuropathy ,视神经病变, , +HP:0001139,Choroideremia ,无脉络膜症, , +HP:0001140,Limbal dermoid ,角膜缘皮样囊肿,A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). ,校对中... +HP:0001141,Severely reduced visual acuity ,视力严重下降,Severe reduction of the ability to see defined as visual acuity less than 6/60 (20/200 in US notation; 0.1 in decimal notation) but at least 3/60 (20/400 in US notation; 0.05 in decimal notation). ,校对中... +HP:0001142,Lenticonus ,圆锥形晶状体,"A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly. ",校对中... +HP:0001144,Orbital cyst ,眼眶囊肿,"Presence of a cyst in the region of the periorbital tissues. Orbital cysts can be derived from epithelial or glandular tissue within or surrounding the orbit (lacrimal glands, salivary glands, conjunctival, oral, nasal, or sinus epithelium). ",校对中... +HP:0001147,Retinal exudate ,视网膜渗出,"Fluid which has escaped from retinal blood vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina. ",校对中... +HP:0001149,Lattice corneal dystrophy ,格子样角膜营养不良,"The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea. ",校对中... +HP:0001151,Impaired horizontal smooth pursuit ,水平平滑追随眼动受损,An abnormality of ocular smooth pursuit characterized by an impairment of the ability to track horizontally moving objects. ,校对中... +HP:0001152,Saccadic smooth pursuit ,扫视平滑追视,An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements. ,校对中... +HP:0001153,Septate vagina ,阴道纵膈,"The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases. ",校对中... +HP:0001155,Abnormality of the hand ,手异常,An abnormality affecting one or both hands. ,校对中... +HP:0001156,Brachydactyly ,短指（趾）,Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. ,校对中... +HP:0001159,Syndactyly ,并指（趾）畸形,"Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as ""symphalangism"". ",校对中... +HP:0001161,Hand polydactyly ,多指,A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. ,校对中... +HP:0001162,Postaxial hand polydactyly ,轴后多指畸形,"Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger). ",校对中... +HP:0001166,Arachnodactyly ,细长指(趾),"Abnormally long and slender fingers (""spider fingers""). ",校对中... +HP:0001167,Abnormality of finger ,手指异常,An anomaly of a finger. ,校对中... +HP:0001169,Broad palm ,宽掌,"For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length. ",校对中... +HP:0001171,Split hand ,手劈裂,A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands. ,校对中... +HP:0001172,Abnormal thumb morphology ,拇指形态异常,An abnormal structure of the first digit of the hand. ,校对中... +HP:0001176,Large hands ,巨手, , +HP:0001177,Preaxial hand polydactyly ,轴前多指,Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits. ,校对中... +HP:0001178,Ulnar claw ,尺侧爪形手,An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm. ,校对中... +HP:0001180,Hand oligodactyly ,少指畸形,A developmental defect resulting in the presence of fewer than the normal number of fingers. ,校对中... +HP:0001181,Adducted thumb ,拇指内收,"In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger. ",校对中... +HP:0001182,Tapered finger ,锥形指,The gradual reduction in girth of the finger from proximal to distal. ,校对中... +HP:0001187,Hyperextensibility of the finger joints ,指间关节过伸,The ability of the finger joints to move beyond their normal range of motion. ,校对中... +HP:0001188,Hand clenching ,攥拳手,An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints. ,校对中... +HP:0001191,Abnormality of the carpal bones ,腕骨异常,"An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate). ",校对中... +HP:0001193,Ulnar deviation of the hand or of fingers of the hand ,手或手指尺侧偏斜, , +HP:0001194,Abnormalities of placenta or umbilical cord ,胎盘和脐带的异常,An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta). ,校对中... +HP:0001195,Single umbilical artery ,单脐动脉,Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord. ,校对中... +HP:0001196,Short umbilical cord ,脐带过短,Decreased length of the umbilical cord. ,校对中... +HP:0001197,Abnormality of prenatal development or birth ,胎儿产前发育或出生异常,"An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. ",校对中... +HP:0001199,Triphalangeal thumb ,三指节拇指,"A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. ",校对中... +HP:0001204,Distal symphalangism of hands ,远端指间关节融合,"The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases. ",校对中... +HP:0001211,Abnormal fingertip morphology ,指尖形态异常,An abnormal structure of the tip (end) of a finger. ,校对中... +HP:0001212,Prominent fingertip pads ,指尖垫突出,"A soft tissue prominence of the ventral aspects of the fingertips. The term ""persistent fetal fingertip pads"" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist. ",校对中... +HP:0001215,Camptodactyly of 2nd-5th fingers ,第二-五指屈曲,The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension. ,校对中... +HP:0001216,Delayed ossification of carpal bones ,腕骨骨化延迟,Ossification of carpal bones occurs later than age-adjusted norms. ,校对中... +HP:0001217,Clubbing ,杵状指,Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. ,校对中... +HP:0001218,Autoamputation ,自发性肢体离断,Spontaneous detachment (amputation) of an appendage from the body. ,校对中... +HP:0001220,Interphalangeal joint contracture of finger ,指间关节挛缩,Chronic loss of joint motion in an interphalangeal joint of a finger due to structural changes in non-bony tissue. ,校对中... +HP:0001222,Spatulate thumbs ,匙状拇指,"Spoon-shaped, broad thumbs. ",校对中... +HP:0001223,Pointed proximal second through fifth metacarpals ,第二-五掌骨近端变尖,All of the metacarpal bones of the hand have a pointed proximal appearance. ,校对中... +HP:0001225,Wrist swelling ,腕肿胀, , +HP:0001227,Abnormality of the thenar eminence ,大鱼际异常,"An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb. ",校对中... +HP:0001230,Broad metacarpals ,掌骨变宽,Abnormally broad metacarpal bones. ,校对中... +HP:0001231,Abnormal fingernail morphology ,指甲形态异常,An abnormality of the fingernails. ,校对中... +HP:0001232,Nail bed telangiectasia ,甲床毛细血管扩张,Telangiectases in the area of the nails. ,校对中... +HP:0001233,2-3 finger syndactyly ,第二-三指并指,Syndactyly with fusion of fingers two and three. ,校对中... +HP:0001234,Hitchhiker thumb ,“打车手势”拇指,"With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand. ",校对中... +HP:0001238,Slender finger ,手指细长,Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. ,校对中... +HP:0001239,Wrist flexion contracture ,腕关节屈曲挛缩,"A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist. ",校对中... +HP:0001241,Capitate-hamate fusion ,头状骨-钩骨融合, , +HP:0001245,Small thenar eminence ,小鱼际小,Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. ,校对中... +HP:0001248,Short tubular bones of the hand ,手管状骨缩短,"Decreased length of the tubular bones of the hand, that is, the phalanges and metacarpals. ",校对中... +HP:0001249,Intellectual disability ,智力残疾,"Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. ",校对中... +HP:0001250,Seizure ,癫痫发作,A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. ,校对中... +HP:0001251,Ataxia ,共济失调,"Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly). ",校对中... +HP:0001252,Hypotonia ,肌张力减退,"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. ",校对中... +HP:0001254,Lethargy ,昏睡,"A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating. ",校对中... +HP:0001256,"Intellectual disability, mild ",轻度智力残疾,Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69. ,校对中... +HP:0001257,Spasticity ,痉挛,"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes. ",校对中... +HP:0001258,Spastic paraplegia ,痉挛性截瘫,Spasticity and weakness of the leg and hip muscles. ,校对中... +HP:0001259,Coma ,昏迷,"Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli. ",校对中... +HP:0001260,Dysarthria ,构音障碍,"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. ",校对中... +HP:0001262,Excessive daytime somnolence ,日间睡眠增多,A state of abnormally strong desire for sleep during the daytime. ,校对中... +HP:0001263,Global developmental delay ,全面发育迟缓,"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. ",校对中... +HP:0001264,Spastic diplegia ,痉挛性双侧瘫痪,"Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis. ",校对中... +HP:0001265,Hyporeflexia ,腱反射减弱,Reduction of neurologic reflexes such as the knee-jerk reaction. ,校对中... +HP:0001266,Choreoathetosis ,舞蹈手足徐动,Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements). ,校对中... +HP:0001268,Mental deterioration ,智能衰退,"Loss of previously present mental abilities, generally in adults. ",校对中... +HP:0001269,Hemiparesis ,轻偏瘫,"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. ",校对中... +HP:0001270,Motor delay ,运动发育迟缓,A type of Developmental delay characterized by a delay in acquiring motor skills. ,校对中... +HP:0001271,Polyneuropathy ,多发性神经病,A generalized disorder of peripheral nerves. ,校对中... +HP:0001272,Cerebellar atrophy ,小脑萎缩,"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event. ",校对中... +HP:0001273,Abnormal corpus callosum morphology ,胼胝体形态异常,Abnormality of the corpus callosum. ,校对中... +HP:0001274,Agenesis of corpus callosum ,胼胝体发育不全,"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline. ",校对中... +HP:0001276,Hypertonia ,肌张力增高,"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move. ",校对中... +HP:0001278,Orthostatic hypotension ,体位性低血压,A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position. ,校对中... +HP:0001279,Syncope ,晕厥,"Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. ",校对中... +HP:0001281,Tetany ,手足抽搐,A condition characterized by intermittent involuntary contraction of muscles (spasms) related to hypocalcemia or occasionally magnesium deficiency. ,校对中... +HP:0001283,Bulbar palsy ,球麻痹,"Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. ",校对中... +HP:0001284,Areflexia ,神经反射消失,Absence of neurologic reflexes such as the knee-jerk reaction. ,校对中... +HP:0001285,Spastic tetraparesis ,痉挛性四肢瘫,Spastic weakness affecting all four limbs. ,校对中... +HP:0001287,Meningitis ,脑膜炎,Inflammation of the meninges. ,校对中... +HP:0001288,Gait disturbance ,步态不稳,"The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease. ",校对中... +HP:0001289,Confusion ,意识模糊,"Lack of clarity and coherence of thought, perception, understanding, or action. ",校对中... +HP:0001290,Generalized hypotonia ,全身性肌张力减低,Generalized muscular hypotonia (abnormally low muscle tone). ,校对中... +HP:0001291,Abnormal cranial nerve morphology ,颅神经形态异常,"Structural abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. ",校对中... +HP:0001293,Cranial nerve compression ,颅神经受压, , +HP:0001297,Stroke ,卒中,Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. ,校对中... +HP:0001298,Encephalopathy ,脑病,"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state. ",校对中... +HP:0001300,Parkinsonism ,帕金森症,"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait. ",校对中... +HP:0001301,Chronic sensorineural polyneuropathy ,慢性多发性感觉神经病, , +HP:0001302,Pachygyria ,巨脑回,"Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. ",校对中... +HP:0001304,Torsion dystonia ,扭转性肌张力障碍,Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. ,校对中... +HP:0001305,Dandy-Walker malformation ,第四脑室孔闭塞综合征（Dandy-Walker畸形）,"A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal. ",校对中... +HP:0001308,Tongue fasciculations ,舌肌束震颤,Fasciculations or fibrillation affecting the tongue muscle. ,校对中... +HP:0001310,Dysmetria ,辨距不良,A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements. ,校对中... +HP:0001311,Abnormal nervous system electrophysiology ,神经系统电生理学异常,An abnormality of the function of the electrical signals with which nerve cells communicate with each other or with muscles as measured by electrophysiological investigations. ,校对中... +HP:0001312,Giant somatosensory evoked potentials ,巨大的体感诱发电位,An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials. ,校对中... +HP:0001315,Reduced tendon reflexes ,腱反射减低,"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease. ",校对中... +HP:0001317,Abnormal cerebellum morphology ,小脑形态异常,Any structural abnormality of the cerebellum. ,校对中... +HP:0001319,Neonatal hypotonia ,新生儿肌张力减退,Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period. ,校对中... +HP:0001320,Cerebellar vermis hypoplasia ,小脑蚓部发育不全,Underdevelopment of the vermis of cerebellum. ,校对中... +HP:0001321,Cerebellar hypoplasia ,小脑发育不全,"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time. ",校对中... +HP:0001324,Muscle weakness ,肌无力,Reduced strength of muscles. ,校对中... +HP:0001325,Hypoglycemic coma ,低血糖昏迷, , +HP:0001326,EEG with irregular generalized spike and wave complexes ,脑电图，不规则的全面性棘慢复合波,"EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency. ",校对中... +HP:0001327,Photosensitive myoclonic seizure ,光敏性肌阵挛发作,Generalised myoclonic seizure provoked by flashing or flickering light. ,校对中... +HP:0001328,Specific learning disability ,特定的学习障碍,"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. ",校对中... +HP:0001331,Absent septum pellucidum ,透明隔缺如,Absence of the septum pellucidum. ,校对中... +HP:0001332,Dystonia ,肌张力障碍,"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk. ",校对中... +HP:0001334,Communicating hydrocephalus ,交通性脑积水,A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. ,校对中... +HP:0001335,Bimanual synkinesia ,双手联带运动,Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand. ,校对中... +HP:0001336,Myoclonus ,肌阵挛,"Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements. ",校对中... +HP:0001337,Tremor ,震颤,"An unintentional, oscillating to-and-fro muscle movement about a joint axis. ",校对中... +HP:0001338,Partial agenesis of the corpus callosum ,局部胼胝体发育不全,A partial failure of the development of the corpus callosum. ,校对中... +HP:0001339,Lissencephaly ,无脑回畸形,"A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly. ",校对中... +HP:0001340,Enhancement of the C-reflex ,C-反射增强,"Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response. ",校对中... +HP:0001341,Olfactory lobe agenesis ,嗅叶不发育, , +HP:0001342,Cerebral hemorrhage ,脑出血,Hemorrhage into the parenchyma of the brain. ,校对中... +HP:0001343,Kernicterus ,核黄疸,"Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction. ",校对中... +HP:0001344,Absent speech ,语言丧失,Complete lack of development of speech and language abilities. ,校对中... +HP:0001345,Psychotic mentation ,精神心理状态, , +HP:0001347,Hyperreflexia ,反射亢进,Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. ,校对中... +HP:0001348,Brisk reflexes ,反射活跃,"Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal. ",校对中... +HP:0001349,Facial diplegia ,双侧面瘫,Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy). ,校对中... +HP:0001350,Slurred speech ,言语不清,Abnormal coordination of muscles involved in speech. ,校对中... +HP:0001351,Jerk-locked premyoclonus spikes ,抽动锁时的肌阵挛前棘波,Jerk-locked averaging (JLA) is used to record the timing and distribution of brain activity preceding brisk involuntary movements such as those observed in patients with myoclonus. JLA is capable of revealing a premyoclonus spike in the absence of paroxysmal activity in the routine EEG. ,校对中... +HP:0001355,Megalencephaly ,巨脑,Diffuse enlargement of the entire cerebral hemispheres leading to macrocephaly (with or without overlying cortical dysplasia). ,校对中... +HP:0001357,Plagiocephaly ,斜头畸形,"Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape. ",校对中... +HP:0001360,Holoprosencephaly ,前脑无裂畸形,Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles. ,校对中... +HP:0001361,Nystagmus-induced head nodding ,眼球震颤诱导点头运动,"Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision. ",校对中... +HP:0001362,Calvarial skull defect ,颅骨缺损,"A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. ",校对中... +HP:0001363,Craniosynostosis ,颅缝早闭,"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth. ",校对中... +HP:0001367,Abnormal joint morphology ,关节形态异常,"An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join. ",校对中... +HP:0001369,Arthritis ,关节炎,Inflammation of a joint. ,校对中... +HP:0001370,Rheumatoid arthritis ,类风湿关节炎,"Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures. ",校对中... +HP:0001371,Flexion contracture ,屈曲挛缩,"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. ",校对中... +HP:0001373,Joint dislocation ,关节脱位,Displacement or malalignment of joints. ,校对中... +HP:0001374,Congenital hip dislocation ,先天性髋关节脱位, , +HP:0001376,Limitation of joint mobility ,关节活动受限,A reduction in the freedom of movement of one or more joints. ,校对中... +HP:0001377,Limited elbow extension ,伸肘受限,Limited ability to straighten the arm at the elbow joint. ,校对中... +HP:0001382,Joint hypermobility ,关节过度活动,The ability of a joint to move beyond its normal range of motion. ,校对中... +HP:0001384,Abnormal hip joint morphology ,髋关节形态异常,An abnormality of the hip joint. ,校对中... +HP:0001385,Hip dysplasia ,髋关节发育不良,The presence of developmental dysplasia of the hip. ,校对中... +HP:0001386,Joint swelling ,关节肿胀, , +HP:0001387,Joint stiffness ,关节僵硬,Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time. ,校对中... +HP:0001388,Joint laxity ,关节松弛,Lack of stability of a joint. ,校对中... +HP:0001392,Abnormality of the liver ,肝脏异常,An abnormality of the liver. ,校对中... +HP:0001394,Cirrhosis ,肝硬化,A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. ,校对中... +HP:0001395,Hepatic fibrosis ,肝纤维化,The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. ,校对中... +HP:0001396,Cholestasis ,胆汁淤积,Impairment of bile flow due to obstruction in bile ducts. ,校对中... +HP:0001397,Hepatic steatosis ,肝脂肪变性,Steatosis is a term used to denote lipid accumulation within hepatocytes. ,校对中... +HP:0001399,Hepatic failure ,肝功能衰竭, , +HP:0001401,Intrahepatic biliary dysgenesis ,肝内胆管发育不良, , +HP:0001402,Hepatocellular carcinoma ,肝细胞癌,A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. ,校对中... +HP:0001403,Macrovesicular hepatic steatosis ,大泡性肝脂肪变性,"A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. ",校对中... +HP:0001404,Hepatocellular necrosis ,肝细胞坏死, , +HP:0001405,Periportal fibrosis ,门静��周围纤维化,The presence of fibrosis affecting the interlobular stroma of liver. ,校对中... +HP:0001406,Intrahepatic cholestasis ,肝内胆汁淤积,Impairment of bile flow due to obstruction in the small bile ducts within the liver. ,校对中... +HP:0001407,Hepatic cysts ,肝囊肿, , +HP:0001408,Bile duct proliferation ,胆管增生,Proliferative changes of the bile ducts. ,校对中... +HP:0001409,Portal hypertension ,门脉高压,Increased pressure in the portal vein. ,校对中... +HP:0001410,Decreased liver function ,肝功能下降,Reduced ability of the liver to perform its functions. ,校对中... +HP:0001412,Enteroviral hepatitis ,肠道病毒性肝炎,Inflammation of the liver due to infection with enterovirus. ,校对中... +HP:0001413,Micronodular cirrhosis ,小结节性肝硬化,A type of cirrhosis characterized by the presence of small regenerative nodules. ,校对中... +HP:0001414,Microvesicular hepatic steatosis ,小泡性肝脂肪变性,"A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. ",校对中... +HP:0001417,X-linked inheritance ,X-连锁遗传,A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome. ,校对中... +HP:0001419,X-linked recessive inheritance ,X-连锁隐性遗传,"A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. ",校对中... +HP:0001423,X-linked dominant inheritance ,X-连锁显性遗传,"A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. ",校对中... +HP:0001425,Heterogeneous ,异质性的, , +HP:0001426,Multifactorial inheritance ,多因素遗传,A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases. ,校对中... +HP:0001427,Mitochondrial inheritance ,线粒体遗传,"A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy). ",校对中... +HP:0001428,Somatic mutation ,体细胞突变,"A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation. ", +HP:0001430,Abnormality of the calf musculature ,小腿肌肉异常, , +HP:0001433,Hepatosplenomegaly ,肝脾肿大,Simultaneous enlargement of the liver and spleen. ,校对中... +HP:0001435,Abnormality of the shoulder girdle musculature ,肩胛带肌肉异常, , +HP:0001436,Abnormality of the foot musculature ,足部肌肉异常,An anomaly of the musculature of foot. ,校对中... +HP:0001437,Abnormality of the musculature of the lower limbs ,下肢肌肉异常, , +HP:0001438,Abnormal abdomen morphology ,腹部形态结构异常,"A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax. ",校对中... +HP:0001440,Metatarsal synostosis ,跖骨骨性融合, , +HP:0001442,Somatic mosaicism ,体细胞嵌合,"The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations. ",校对中... +HP:0001444,Autosomal dominant somatic cell mutation ,常染色体显性体细胞突变,"Being related to a de novo variant that occurs in a single cell in developing somatic tissue. The cell is the progenitor of a population of identical mutant cells, all of which have descended from the cell that mutated. Clinical manifestations depend on the identity and proportion of affected cells in the body. ", +HP:0001450,Y-linked inheritance ,Y-连锁遗传,A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome. ,校对中... +HP:0001452,Autosomal dominant contiguous gene syndrome ,常染色体显性邻近基因综合征, , +HP:0001459,1-3 toe syndactyly ,第一-三趾并趾,Syndactyly with fusion of toes one to three. ,校对中... +HP:0001460,Aplasia/Hypoplasia involving the skeletal musculature ,骨骼肌发育不良/发育不全,Absence or underdevelopment of the musculature. ,校对中... +HP:0001466,Contiguous gene syndrome ,邻近基因综合征, , +HP:0001470,Sex-limited autosomal dominant ,限性常染色体显性, , +HP:0001473,Metatarsal osteolysis ,跖骨溶骨,Osteolysis involving metatarsal bones. ,校对中... +HP:0001474,Sclerotic scapulae ,肩胛骨硬化,Increased density of the bony tissue of the scapula. ,校对中... +HP:0001476,Delayed closure of the anterior fontanelle ,前囟闭合延迟,"A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. ",校对中... +HP:0001477,Compensatory chin elevation ,代偿性下巴抬高,A tendency to hold the chin elevated by about 20 to 30 degrees to compensate for a limitation of eye movement. ,校对中... +HP:0001480,Freckling ,雀斑,"The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. ",校对中... +HP:0001482,Subcutaneous nodule ,皮下结节,Slightly elevated lesions on or in the skin with a diameter of over 5 mm. ,校对中... +HP:0001483,Eye poking ,戳眼,"Repetitive pressing, poking, and/or rubbing in the eyes. ",校对中... +HP:0001488,Bilateral ptosis ,双侧眼睑下垂, , +HP:0001489,Posterior vitreous detachment ,玻璃体后部脱离,Separation of the vitreous humor from the retina. ,校对中... +HP:0001491,Congenital fibrosis of extraocular muscles ,先天性眼外肌纤维化,"Congenital non-progressive ophthalmoplegia with multiple extraocular muscle restrictions. Typically, there is ptosis and variable degrees of restriction of horizontal and vertical eye movements. ",校对中... +HP:0001492,Axenfeld anomaly ,Axenfeld 综合征,"Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line. ",校对中... +HP:0001493,Falciform retinal fold ,镰状视网膜皱襞,An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset. ,校对中... +HP:0001495,Carpal osteolysis ,腕骨溶骨,Osteolysis affecting carpal bones. ,校对中... +HP:0001498,Carpal bone hypoplasia ,腕骨骨发育不全,Underdevelopment of one or more carpal bones. ,校对中... +HP:0001500,Broad finger ,宽指,Increased width of a non-thumb digit of the hand. ,校对中... +HP:0001501,6 metacarpals ,6块掌骨, , +HP:0001504,Metacarpal osteolysis ,掌骨溶骨, , +HP:0001507,Growth abnormality ,生长异常, , +HP:0001508,Failure to thrive ,发育迟滞,Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. ,校对中... +HP:0001510,Growth delay ,生长延迟,A deficiency or slowing down of growth pre- and postnatally. ,校对中... +HP:0001511,Intrauterine growth retardation ,胎儿宫内发育迟缓,An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age. ,校对中... +HP:0001513,Obesity ,肥胖,Accumulation of substantial excess body fat. ,校对中... +HP:0001518,Small for gestational age ,小于胎龄儿,"Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. ",校对中... +HP:0001519,Disproportionate tall stature ,不成比例的高身材,"A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim. ",校对中... +HP:0001520,Large for gestational age ,大于胎龄儿,The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. ,校对中... +HP:0001522,Death in infancy ,婴儿期夭折,Death within the first 24 months of life. ,校对中... +HP:0001525,Severe failure to thrive ,严重生长障碍, , +HP:0001528,Hemihypertrophy ,偏身肥大,Overgrowth of only one side of the body. ,校对中... +HP:0001530,Mild postnatal growth retardation ,轻度产后发育迟缓,"A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms. ",校对中... +HP:0001531,Failure to thrive in infancy ,婴儿期生长障碍, , +HP:0001533,Slender build ,修长的身材,"Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones. ",校对中... +HP:0001537,Umbilical hernia ,脐疝,Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. ,校对中... +HP:0001538,Protuberant abdomen ,腹部隆凸,A thrusting or bulging out of the abdomen. ,校对中... +HP:0001539,Omphalocele ,脐膨出,A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord. ,校对中... +HP:0001540,Diastasis recti ,腹直肌分离,A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba). ,校对中... +HP:0001541,Ascites ,腹水,Accumulation of fluid in the peritoneal cavity. ,校对中... +HP:0001543,Gastroschisis ,腹裂,"A type of congenital ventral incomplete closure of the abdominal wall in which the intestines and sometimes other organs extend freely into the amniotic fluid space through a small opening in the abdomen, usually to the right of the umbilicus. ",校对中... +HP:0001544,Prominent umbilicus ,脐突出,Abnormally prominent umbilicus (belly button). ,校对中... +HP:0001545,Anteriorly placed anus ,肛门前置,Anterior malposition of the anus. ,校对中... +HP:0001547,Abnormal rib cage morphology ,胸廓形态异常,A morphological anomaly of the rib cage. ,校对中... +HP:0001548,Overgrowth ,过度生长,"Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference. ",校对中... +HP:0001551,Abnormal umbilicus morphology ,脐形态结构异常,An abnormality of the structure or appearance of the umbilicus. ,校对中... +HP:0001552,Barrel-shaped chest ,桶状胸,"A rounded, bulging chest that resembles the shape of a barrel. That is, there is an increased anteroposterior diameter and usually some degree of kyphosis. ",校对中... +HP:0001555,Asymmetry of the thorax ,胸廓不对称,Lack of symmetry between the left and right halves of the thorax. ,校对中... +HP:0001557,Prenatal movement abnormality ,产前胎动异常,An abnormality of fetal movement. ,校对中... +HP:0001558,Decreased fetal movement ,胎动减少,An abnormal reduction in quantity or strength of fetal movements. ,校对中... +HP:0001560,Abnormality of the amniotic fluid ,羊水异常,"Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus. ",校对中... +HP:0001561,Polyhydramnios ,羊水过多,The presence of excess amniotic fluid in the uterus during pregnancy. ,校对中... +HP:0001562,Oligohydramnios ,羊水过少,Diminished amniotic fluid volume in pregnancy. ,校对中... +HP:0001563,Fetal polyuria ,胎儿多尿,Abnormally increased production of urine by the fetus resulting in polyhydramnios. ,校对中... +HP:0001566,Widely-spaced maxillary central incisors ,上颌中切牙牙间隙增宽,Increased distance between the maxillary central permanent incisor tooth. ,校对中... +HP:0001571,Multiple impacted teeth ,多个阻生齿,The presence of multiple impacted teeth. ,校对中... +HP:0001572,Macrodontia ,巨牙,"Increased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth. ",校对中... +HP:0001574,Abnormality of the integument ,体壁的异常,"An abnormality of the integument, which consists of the skin and the superficial fascia. ",校对中... +HP:0001579,Primary hypercortisolism ,原发性皮质醇增多症,Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol. ,校对中... +HP:0001580,Pigmented micronodular adrenocortical disease ,色素性小结节状肾上腺皮质疾病, , +HP:0001581,Recurrent skin infections ,复发性皮肤感染,Infections of the skin that happen multiple times. ,校对中... +HP:0001582,Redundant skin ,赘肉,Loose and sagging skin often associated with loss of skin elasticity. ,校对中... +HP:0001583,Rotary nystagmus ,旋转眼球震颤,A form of nystagmus in which the eyeball makes rotary motions around the axis. ,校对中... +HP:0001586,Vesicovaginal fistula ,膀胱阴道瘘,The presence of a fistula connecting the urinary bladder to the vagina. ,校对中... +HP:0001591,Bell-shaped thorax ,钟形胸,"The rib cage has the shape of a wide mouthed bell. That is, the superior portion of the rib cage is constricted, followed by a convex region, and the inferior portion of the rib cage expands again to have a large diameter. ",校对中... +HP:0001592,Selective tooth agenesis ,选择性牙齿发育不全,"Agenesis specifically affecting one of the classes incisor, premolar, or molar. ",校对中... +HP:0001595,Abnormal hair morphology ,毛发形态异常,An abnormality of the hair. ,校对中... +HP:0001596,Alopecia ,脱发,"A noncongenital process of hair loss, which may progress to partial or complete baldness. ",校对中... +HP:0001597,Abnormality of the nail ,指（趾）甲异常,Abnormality of the nail. ,校对中... +HP:0001598,Concave nail ,反甲,The natural longitudinal (posterodistal) convex arch is not present or is inverted. ,校对中... +HP:0001600,Abnormality of the larynx ,喉部异常,An abnormality of the larynx. ,校对中... +HP:0001601,Laryngomalacia ,喉软骨软化,Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. ,校对中... +HP:0001602,Laryngeal stenosis ,喉狭窄,Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing. ,校对中... +HP:0001604,Vocal cord paresis ,声带不全性麻痹,Decreased strength of the vocal folds. ,校对中... +HP:0001605,Vocal cord paralysis ,声带麻痹,A loss of the ability to move the vocal folds. ,校对中... +HP:0001607,Subglottic stenosis ,声门下狭窄, , +HP:0001608,Abnormality of the voice ,声音异常, , +HP:0001609,Hoarse voice ,声音嘶哑,"Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. ",校对中... +HP:0001611,Nasal speech ,鼻音,A type of speech characterized by the presence of an abnormally increased nasal airflow during speech. ,校对中... +HP:0001612,Weak cry ,哭声微弱, , +HP:0001615,Hoarse cry ,声音嘶哑的哭声, , +HP:0001618,Dysphonia ,发音困难,An impairment in the ability to produce voice sounds. ,校对中... +HP:0001620,High pitched voice ,高音调的声音,An abnormal increase in the pitch (frequency) of the voice. ,校对中... +HP:0001621,Weak voice ,嗓音微弱,Reduced intensity (volume) of speech. ,校对中... +HP:0001622,Premature birth ,早产,The birth of a baby of less than 37 weeks of gestational age. ,校对中... +HP:0001623,Breech presentation ,臀先露,A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first. ,校对中... +HP:0001626,Abnormality of the cardiovascular system ,心血管系统的任何异常。,Any abnormality of the cardiovascular system. ,校对中... +HP:0001627,Abnormal heart morphology ,心脏形态异常,Any structural anomaly of the heart. ,校对中... +HP:0001629,Ventricular septal defect ,室间隔缺损,A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum. ,校对中... +HP:0001631,Atrial septal defect ,房间隔缺损,Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. ,校对中... +HP:0001633,Abnormal mitral valve morphology ,二尖瓣形态异常,Any structural anomaly of the mitral valve. ,校对中... +HP:0001634,Mitral valve prolapse ,二尖瓣脱垂,One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle. ,校对中... +HP:0001635,Congestive heart failure ,充血性心力衰竭,The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. ,校对中... +HP:0001636,Tetralogy of Fallot ,法洛四联症,"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present. ",校对中... +HP:0001637,Abnormal myocardium morphology ,心肌形态异常,A structural anomaly of the muscle layer of the heart wall. ,校对中... +HP:0001638,Cardiomyopathy ,心肌病,"A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. ",校对中... +HP:0001639,Hypertrophic cardiomyopathy ,肥厚型心肌病,"Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality. ",校对中... +HP:0001640,Cardiomegaly ,心脏扩大,"Increased size of the heart, clinically defined as an increased transverse diameter of the cardiac silhouette that is greater than or equal to 50% of the transverse diameter of the chest (increased cardiothoracic ratio) on a posterior-anterior projection of a chest radiograph or a computed tomography. ",校对中... +HP:0001641,Abnormal pulmonary valve morphology ,肺动脉瓣形态异常,Any structural abnormality of the pulmonary valve. ,校对中... +HP:0001642,Pulmonic stenosis ,肺动脉狭窄,A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis). ,校对中... +HP:0001643,Patent ductus arteriosus ,动脉导管未闭,"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. ",校对中... +HP:0001644,Dilated cardiomyopathy ,扩张型心肌病,"Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. ",校对中... +HP:0001645,Sudden cardiac death ,心脏性猝死,The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). ,校对中... +HP:0001646,Abnormal aortic valve morphology ,主动脉瓣形态异常,Any abnormality of the aortic valve. ,校对中... +HP:0001647,Bicuspid aortic valve ,二叶主动脉瓣,"The presence of an aortic valve with two instead of the normal three cusps (flaps). Bicuspid aortic valvue is a malformation of a commissure (small space between the attachment of each cusp to the aortic wall) and the adjacent parts of the two corresponding cusps forming a raphe (the fused area of the two underdeveloped cusps turning into a malformed commissure between both cusps; the raphe is a fibrous ridge that extends from the commissure to the free edge of the two underdeveloped, conjoint cusps). ",校对中... +HP:0001648,Cor pulmonale ,肺源性心脏病,Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle. ,校对中... +HP:0001649,Tachycardia ,心动过速,A rapid heartrate that exceeds the range of the normal resting heartrate for age. ,校对中... +HP:0001650,Aortic valve stenosis ,主动脉瓣狭窄,The presence of a stenosis (narrowing) of the aortic valve. ,校对中... +HP:0001651,Dextrocardia ,右位心,"The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or ""mirror reflection"") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. ",校对中... +HP:0001653,Mitral regurgitation ,二尖瓣反流,An abnormality of the mitral valve characterized by insufficiency or incompetence of the mitral valve resulting in retrograde leaking of blood through the mitral valve upon ventricular contraction. ,校对中... +HP:0001654,Abnormal heart valve morphology ,心脏瓣膜形态异常,Any structural abnormality of a cardiac valve. ,校对中... +HP:0001655,Patent foramen ovale ,卵圆孔未闭,"Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria. ",校对中... +HP:0001657,Prolonged QT interval ,QT间期延长,Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). ,校对中... +HP:0001658,Myocardial infarction ,心肌梗死,"Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. ",校对中... +HP:0001659,Aortic regurgitation ,主动脉瓣反流,"An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. ",校对中... +HP:0001660,Truncus arteriosus ,动脉干,"A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract. ",校对中... +HP:0001662,Bradycardia ,心动过缓,"A slower than normal heart rate (in adults, slower than 60 beats per minute). ",校对中... +HP:0001663,Ventricular fibrillation ,心室纤颤,Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. ,校对中... +HP:0001664,Torsade de pointes ,尖端扭转型室性心动过速,"A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG. ",校对中... +HP:0001667,Right ventricular hypertrophy ,右心室肥厚,"In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal. ",校对中... +HP:0001669,Transposition of the great arteries ,大动脉转位,A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. ,校对中... +HP:0001670,Asymmetric septal hypertrophy ,非对称性心室间隔肥厚,"Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray. ",校对中... +HP:0001671,Abnormal cardiac septum morphology ,心脏间隔异常,An anomaly of the intra-atrial or intraventricular septum. ,校对中... +HP:0001674,Complete atrioventricular canal defect ,完全性房室通道缺损,"A congenital heart defect characterized by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect. ",校对中... +HP:0001677,Coronary artery atherosclerosis ,冠状动脉粥样硬化,"Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia. ",校对中... +HP:0001678,Atrioventricular block ,房室传导阻滞,Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. ,校对中... +HP:0001679,Abnormal aortic morphology ,主动脉形态异常,An abnormality of the aorta. ,校对中... +HP:0001680,Coarctation of aorta ,主动脉缩窄,Coarctation of the aorta is a narrowing or constriction of a segment of the aorta. ,校对中... +HP:0001681,Angina pectoris ,心绞痛,Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia. ,校对中... +HP:0001682,Subvalvular aortic stenosis ,主动脉瓣下狭窄,A fixed form of obstruction to blood flow across the left-ventricular outflow tract related to stenosis (narrowing) below the level of the aortic valve. ,校对中... +HP:0001684,Secundum atrial septal defect ,第二房间隔缺损,"A kind of atrial septum defect arising from an enlarged foramen ovale, inadequate growth of the septum secundum, or excessive absorption of the septum primum. ",校对中... +HP:0001685,Myocardial fibrosis ,心肌纤维化,"Myocardial fibrosis is characterized by dysregulated collagen turnover (increased synthesis predominates over unchanged or decreased degradation) and excessive diffuse collagen accumulation in the interstitial and perivascular spaces as well as by phenotypically transformed fibroblasts, termed myofibroblasts. ",校对中... +HP:0001686,Loss of voice ,失声, , +HP:0001688,Sinus bradycardia ,窦性心动过缓,Bradycardia related to a mean resting sinus rate of less than 50 beats per minute. ,校对中... +HP:0001692,Atrial arrhythmia ,房性心律不齐,A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance. ,校对中... +HP:0001694,Right-to-left shunt ,右向左分流,Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the right side of the heart to the left. ,校对中... +HP:0001695,Cardiac arrest ,心脏骤停,An abrupt loss of heart function. ,校对中... +HP:0001696,Situs inversus totalis ,全内脏反位,"A left-right reversal (or ""mirror reflection"") of the anatomical location of the major thoracic and abdominal organs. ",校对中... +HP:0001698,Pericardial effusion ,心包积液,Accumulation of fluid within the pericardium. ,校对中... +HP:0001699,Sudden death ,猝死,Rapid and unexpected death. ,校对中... +HP:0001700,Myocardial necrosis ,心肌坏死,Irreversible damage to heart tissue (myocardium) due to lack of oxygen after a heart attack (myocardial infarction). ,校对中... +HP:0001701,Pericarditis ,心包炎,Inflammation of the sac-like covering around the heart (pericardium). ,校对中... +HP:0001702,Abnormal tricuspid valve morphology ,三尖瓣形态异常,Any structural anomaly of the tricuspid valve. ,校对中... +HP:0001704,Tricuspid valve prolapse ,三尖瓣脱垂,One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle. ,校对中... +HP:0001705,Right ventricular outlet tract obstruction ,右室流出道梗阻,An obstruction to the forward flow of blood in the outflow tract of the right ventricle. ,校对中... +HP:0001706,Endocardial fibroelastosis ,心内膜弹力纤维增生症,Diffuse thickening of the ventricular endocardium and by associated myocardial dysfunction ,校对中... +HP:0001707,Abnormal right ventricle morphology ,右心室形态异常,An abnormality of the right ventricle of the heart. ,校对中... +HP:0001708,Right ventricular failure ,右心衰竭,"Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading to pitting peripheral edema, ascites, and hepatomegaly. ",校对中... +HP:0001709,Third degree atrioventricular block ,三度房室传导阻滞,Third-degree atrioventricular (AV) block (also referred to as complete heart block) is the complete dissociation of the atria and the ventricles. Third-degree AV block exists when more P waves than QRS complexes exist and no relationship (no conduction) exists between them. ,校对中... +HP:0001710,Conotruncal defect ,圆锥动脉干缺损,"A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle. ",校对中... +HP:0001711,Abnormal left ventricle morphology ,左心室形态异常,Any structural abnormality of the left ventricle of the heart. ,校对中... +HP:0001712,Left ventricular hypertrophy ,左心室肥厚,Enlargement or increased size of the heart left ventricle. ,校对中... +HP:0001713,Abnormal cardiac ventricle morphology ,心室形态异常,An abnormality of a cardiac ventricle. ,校对中... +HP:0001714,Ventricular hypertrophy ,心室肥厚,Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. ,校对中... +HP:0001716,Wolff-Parkinson-White syndrome ,预激综合征,A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway. ,校对中... +HP:0001717,Coronary artery calcification ,冠状动脉钙化,An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in a coronary artery. ,校对中... +HP:0001718,Mitral stenosis ,二尖瓣狭窄,An abnormal narrowing of the orifice of the mitral valve. ,校对中... +HP:0001719,Double outlet right ventricle ,右室双出口,Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle. ,校对中... +HP:0001722,High-output congestive heart failure ,高输出充血性心力衰竭,"A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others. ",校对中... +HP:0001723,Restrictive cardiomyopathy ,限制型心肌病,"Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness. ",校对中... +HP:0001727,Thromboembolic stroke ,血栓栓塞性脑卒中,A cerebrovascular accident (stroke) that occurs because of thromboembolism. ,校对中... +HP:0001730,Progressive hearing impairment ,渐进性听力损失,A progressive form of hearing impairment. ,校对中... +HP:0001732,Abnormality of the pancreas ,胰腺异常,An abnormality of the pancreas. ,校对中... +HP:0001733,Pancreatitis ,胰腺炎,The presence of inflammation in the pancreas. ,校对中... +HP:0001734,Annular pancreas ,环状胰,A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum. ,校对中... +HP:0001735,Acute pancreatitis ,急性胰腺炎,A acute form of pancreatitis. ,校对中... +HP:0001737,Pancreatic cysts ,胰腺囊肿,A cyst of the pancreas that possess a lining of mucous epithelium. ,校对中... +HP:0001738,Exocrine pancreatic insufficiency ,胰腺外分泌功能不全,Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes. ,校对中... +HP:0001739,Abnormal nasopharynx morphology ,鼻咽部形态异常,A structural anomaly of the nasopharynx. ,校对中... +HP:0001741,Phimosis ,包茎,The male foreskin cannot be fully retracted from the head of the penis. ,校对中... +HP:0001742,Nasal congestion ,鼻塞,Reduced ability to pass air through the nasal cavity often leading to mouth breathing. ,校对中... +HP:0001743,Abnormality of the spleen ,脾脏异常,An abnormality of the spleen. ,校对中... +HP:0001744,Splenomegaly ,脾肿大,Abnormal increased size of the spleen. ,校对中... +HP:0001746,Asplenia ,无脾,Absence (aplasia) of the spleen. ,校对中... +HP:0001747,Accessory spleen ,副脾,"An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance. ",校对中... +HP:0001748,Polysplenia ,多脾,Polysplenia is a congenital disease manifested by multiple small accessory spleens. ,校对中... +HP:0001750,Single ventricle ,单心室,"The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle. ",校对中... +HP:0001751,Vestibular dysfunction ,前庭功能障碍,An abnormality of the functioning of the vestibular apparatus. ,校对中... +HP:0001756,Vestibular hypofunction ,前庭功能减退,Reduced functioning of the vestibular apparatus. ,校对中... +HP:0001757,High-frequency sensorineural hearing impairment ,高频感音神经性听力障碍,A form of sensorineural hearing impairment that affects primarily the higher frequencies. ,校对中... +HP:0001760,Abnormal foot morphology ,足部形态异常,An abnormality of the skeleton of foot. ,校对中... +HP:0001761,Pes cavus ,高弓足,"The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight. ",校对中... +HP:0001762,Talipes equinovarus ,马蹄内翻足,Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. ,校对中... +HP:0001763,Pes planus ,扁平足,"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. ",校对中... +HP:0001765,Hammertoe ,槌状趾,Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. ,校对中... +HP:0001769,Broad foot ,宽足,"A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length. ",校对中... +HP:0001770,Toe syndactyly ,并趾,"Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as ""Symphalangism"". ",校对中... +HP:0001771,Achilles tendon contracture ,跟腱挛缩,A contracture of the Achilles tendon. ,校对中... +HP:0001772,Talipes equinovalgus ,马蹄外翻足,A deformity of foot and ankle in which the foot is bent down and outwards. ,校对中... +HP:0001773,Short foot ,短足,"A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective). ",校对中... +HP:0001775,Tarsal osteovalgus ,跗骨骨外翻, , +HP:0001776,Bilateral talipes equinovarus ,双侧马蹄内翻足,Bilateral clubfoot deformity (see HP:0001762). ,校对中... +HP:0001780,Abnormality of toe ,脚趾异常,An anomaly of a toe. ,校对中... +HP:0001782,Bulbous tips of toes ,球茎状趾尖,"An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous. ",校对中... +HP:0001783,Broad metatarsal ,跖骨变宽,Increased side-to-side width of a metatarsal bone. ,校对中... +HP:0001785,Ankle swelling ,踝关节肿胀, , +HP:0001786,Narrow foot ,窄足,"A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length. ",校对中... +HP:0001787,Abnormal delivery ,分娩异常,An abnormality of the birth process. ,校对中... +HP:0001788,Premature rupture of membranes ,胎膜早破,Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor. ,校对中... +HP:0001789,Hydrops fetalis ,胎儿水肿,"The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema. ",校对中... +HP:0001790,Nonimmune hydrops fetalis ,非免疫性胎儿水肿,A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . ,校对中... +HP:0001791,Fetal ascites ,胎儿腹水,Accumulation of fluid in the peritoneal cavity during the fetal period. ,校对中... +HP:0001792,Small nail ,微甲,"A nail that is diminished in length and width, i.e., underdeveloped nail. ",校对中... +HP:0001795,Hyperconvex nail ,甲异常凸起,When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity. ,校对中... +HP:0001798,Anonychia ,无甲症,Aplasia of the nail. ,校对中... +HP:0001799,Short nail ,短甲,Decreased length of nail. ,校对中... +HP:0001800,Hypoplastic toenails ,趾甲发育不良,Underdevelopment of the toenail. ,校对中... +HP:0001802,Absent toenail ,趾甲缺损,Congenital absence of the toenail. ,校对中... +HP:0001803,Nail pits ,甲凹点,Small (typically about 1 mm or less in size) depressions on the dorsal nail surface. ,校对中... +HP:0001804,Hypoplastic fingernail ,指甲发育不良,Underdevelopment of a fingernail. ,校对中... +HP:0001805,Onychogryposis ,厚甲,Nail that appears thick when viewed on end. ,校对中... +HP:0001806,Onycholysis ,甲分离,Detachment of the nail from the nail bed. ,校对中... +HP:0001807,Ridged nail ,甲纵嵴,"Longitudinal, linear prominences in the nail plate. ",校对中... +HP:0001808,Fragile nails ,脆甲,Nails that easily break. ,校对中... +HP:0001809,Split nail ,甲纵裂,A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature. ,校对中... +HP:0001810,Dystrophic toenail ,趾甲营养不良,Toenail changes apart from changes of the color of the toenail (nail dyschromia) that involve partial or complete disruption of the various keratinous layers of the nail plate. ,校对中... +HP:0001812,Hyperconvex fingernails ,指甲异常凸起,When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity. ,校对中... +HP:0001814,Deep-set nails ,嵌甲,Deeply placed nails. ,校对中... +HP:0001816,Thin nail ,薄甲,Nail that appears thin when viewed on end. ,校对中... +HP:0001817,Absent fingernail ,指甲缺损,Absence of a fingernail. ,校对中... +HP:0001818,Paronychia ,甲沟炎,The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). ,校对中... +HP:0001820,Leukonychia ,白甲,White discoloration of the nails. ,校对中... +HP:0001821,Broad nail ,宽甲,Increased width of nail. ,校对中... +HP:0001822,Hallux valgus ,拇趾外翻,"Lateral deviation of the great toe (i.e., in the direction of the little toe). ",校对中... +HP:0001824,Weight loss ,体重减轻,Reduction of total body weight. ,校对中... +HP:0001829,Foot polydactyly ,多趾,A kind of polydactyly characterized by the presence of a supernumerary toe or toes. ,校对中... +HP:0001830,Postaxial foot polydactyly ,轴后多趾,Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. ,校对中... +HP:0001831,Short toe ,短趾,A toe that appears disproportionately short compared to the foot. ,校对中... +HP:0001832,Abnormal metatarsal morphology ,跖骨形态异常,Abnormalities of the metatarsal bones (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes). ,校对中... +HP:0001833,Long foot ,长足,Increased back to front length of the foot. ,校对中... +HP:0001836,Camptodactyly of toe ,脚趾屈曲畸形,Camptodactyly is a painless flexion contracture of the proximal interphalangeal (PIP) joint that is usually gradually progressive. This term refers to camptodactyly of one or more toes. ,校对中... +HP:0001837,Broad toe ,宽趾,Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension. ,校对中... +HP:0001838,Rocker bottom foot ,摇椅足,The presence of both a prominent heel and a convex contour of the sole. ,校对中... +HP:0001839,Split foot ,脚劈裂,A condition in which middle parts of the foot (toes and metatarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe over absent 2nd or 3rd toes as far as oligo- or monodactyl feet. ,校对中... +HP:0001840,Metatarsus adductus ,跖内收,"The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body. ",校对中... +HP:0001841,Preaxial foot polydactyly ,轴前多趾,Duplication of all or part of the first ray. ,校对中... +HP:0001842,Foot acroosteolysis ,足趾端溶骨, , +HP:0001844,Abnormality of the hallux ,拇趾异常,"This term applies for all abnormalities of the big toe, also called hallux. ",校对中... +HP:0001845,Overlapping toe ,重叠趾,Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest. ,校对中... +HP:0001847,Long hallux ,长拇趾,Increased length of the big toe. ,校对中... +HP:0001848,Calcaneovalgus deformity ,足外翻畸形,"This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus). ",校对中... +HP:0001849,Foot oligodactyly ,少趾畸形,A developmental defect resulting in the presence of fewer than the normal number of toes. ,校对中... +HP:0001850,Abnormality of the tarsal bones ,跗骨异常,"An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone. ",校对中... +HP:0001852,Sandal gap ,木屐足,A widely spaced gap between the first toe (the great toe) and the second toe. ,校对中... +HP:0001853,Bifid distal phalanx of toe ,末节跖骨分叉, , +HP:0001854,Podagra ,跖趾关节痛风,Gout affecting the Metatarsophalangeal joint of big toe. ,校对中... +HP:0001857,Short distal phalanx of toe ,末节跖骨短小,"Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short distal phalanx of toe. ",校对中... +HP:0001863,Toe clinodactyly ,脚趾屈趾畸形,"Bending or curvature of a toe in the tibial direction (i.e., towards the big toe). ",校对中... +HP:0001864,Clinodactyly of the 5th toe ,第五趾屈曲畸形,"Bending or curvature of a fifth toe in the tibial direction (i.e., towards the big toe). ",校对中... +HP:0001868,Autoamputation of foot ,足部自发离断,Spontaneous detachment of a foot from the body. ,校对中... +HP:0001869,Deep plantar creases ,跖部深褶,The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot. ,校对中... +HP:0001870,Acroosteolysis of distal phalanges (feet) ,远节趾骨肢端溶骨, , +HP:0001871,Abnormality of blood and blood-forming tissues ,血液和造血组织异常,An abnormality of the hematopoietic system. ,校对中... +HP:0001872,Abnormal thrombocyte morphology ,血小板形态异常,An abnormality of platelets. ,校对中... +HP:0001873,Thrombocytopenia ,血小板减少症,A reduction in the number of circulating thrombocytes. ,校对中... +HP:0001874,Abnormality of neutrophils ,中性粒细胞异常,A neutrophil abnormality. ,校对中... +HP:0001875,Neutropenia ,中性粒细胞减少症,An abnormally low number of neutrophils in the peripheral blood. ,校对中... +HP:0001876,Pancytopenia ,全血细胞减少症,"An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). ",校对中... +HP:0001877,Abnormal erythrocyte morphology ,红细胞形态异常,Any structural abnormality of erythrocytes (red-blood cells). ,校对中... +HP:0001878,Hemolytic anemia ,溶血性贫血,A type of anemia caused by premature destruction of red blood cells (hemolysis). ,校对中... +HP:0001879,Abnormal eosinophil morphology ,嗜酸性粒细胞形态异常,An abnormal count or structure of eosinophils. ,校对中... +HP:0001880,Eosinophilia ,嗜酸性粒细胞增多症,Increased count of eosinophils in the blood. ,校对中... +HP:0001881,Abnormal leukocyte morphology ,白细胞形态异常,An abnormality of leukocytes. ,校对中... +HP:0001882,Leukopenia ,白细胞减少症,An abnormal decreased number of leukocytes in the blood. ,校对中... +HP:0001883,Talipes ,畸形足,"A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus. ",校对中... +HP:0001884,Talipes calcaneovalgus ,跟骨畸形,"Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an ""up and out"" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg. ",校对中... +HP:0001885,Short 2nd toe ,第二趾短小,Underdevelopment (hypoplasia) of the second toe. ,校对中... +HP:0001886,Foot osteomyelitis ,足骨骨髓炎,An infection of bone of the foot. ,校对中... +HP:0001888,Lymphopenia ,淋巴细胞减少症,A reduced number of lymphocytes in the blood. ,校对中... +HP:0001889,Megaloblastic anemia ,巨幼细胞性贫血,Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts). ,校对中... +HP:0001890,Autoimmune hemolytic anemia ,自身免疫性溶血性贫血,An autoimmune form of hemolytic anemia. ,校对中... +HP:0001891,Iron deficiency anemia ,缺铁性贫血, , +HP:0001892,Abnormal bleeding ,异常出血,"An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. ",校对中... +HP:0001894,Thrombocytosis ,血小板增多症,Increased numbers of platelets in the peripheral blood. ,校对中... +HP:0001895,Normochromic anemia ,正色素性贫血, , +HP:0001896,Reticulocytopenia ,网织细胞减少症,A reduced number of reticulocytes in the peripheral blood. ,校对中... +HP:0001897,Normocytic anemia ,正细胞性贫血,A kind of anemia in which the volume of the red blood cells is normal. ,校对中... +HP:0001898,Increased red blood cell mass ,红细胞数量增多,The presence of an increased mass of red blood cells in the circulation. ,校对中... +HP:0001899,Increased hematocrit ,红细胞压积增高,An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. ,校对中... +HP:0001900,Increased hemoglobin ,血红蛋白增多, , +HP:0001901,Polycythemia ,红细胞增多症,"Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. ",校对中... +HP:0001902,Giant platelets ,巨血小板,"Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998). ",校对中... +HP:0001903,Anemia ,贫血,A reduction in erythrocytes volume or hemoglobin concentration. ,校对中... +HP:0001904,Neutropenia in presence of anti-neutropil antibodies ,抗中性粒细胞抗体阳性的中性粒细胞减少症,A type of neutropenia that is observed in the presence of granulocyte-specific antibodies. ,校对中... +HP:0001905,Congenital thrombocytopenia ,先天性血小板减少症,Thrombocytopenia with congenital onset. ,校对中... +HP:0001907,Thromboembolism ,血栓栓塞症,"The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site. ",校对中... +HP:0001908,Hypoplastic anemia ,发育不良性贫血,Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia. ,校对中... +HP:0001909,Leukemia ,白血病,A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes. ,校对中... +HP:0001911,Abnormal granulocyte morphology ,粒细胞形态异常,Any structural abnormality or abnormal count of granulocytes. ,校对中... +HP:0001912,Abnormal basophil morphology ,嗜碱性粒细胞形态异常,Any structural abnormality or abnormal count of basophils. ,校对中... +HP:0001913,未找到信息,-,-,- +HP:0001915,Aplastic anemia ,再生障碍性贫血,Aplastic anemia is defined as pancytopenia with a hypocellular marrow. ,校对中... +HP:0001917,Renal amyloidosis ,肾淀粉样病变,"A form of amyloidosis that affects the kidney. On hematoxylin and eosin stain, amyloid is identified as extracellular amorphous material that is lightly eosinophilic. These deposits often stain weakly for periodic acid Schiff (PAS), demonstrate a blue-to-gray hue on the trichrome stain and are typically negative on the Jones methenamine silver (JMS) stain. These tinctorial properties contrast with the histologic appearance of collagen, a major component of basement membranes, mesangial matrix and areas of sclerosis, which demonstrates strong positivity for PAS and JMS (See Figure 1 of PMID:25852856). ",校对中... +HP:0001919,Acute kidney injury ,急性肾损伤,"Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). ",校对中... +HP:0001920,Renal artery stenosis ,肾动脉狭窄,The presence of stenosis of the renal artery. ,校对中... +HP:0001922,Vacuolated lymphocytes ,空泡淋巴细胞,"The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm. ",校对中... +HP:0001923,Reticulocytosis ,网织红细胞增多症,An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation. ,校对中... +HP:0001924,Sideroblastic anemia ,铁粒幼细胞性贫血,Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining). ,校对中... +HP:0001927,Acanthocytosis ,棘形红细胞增多症,Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars. ,校对中... +HP:0001928,Abnormality of coagulation ,凝血异常,"An abnormality of the process of blood coagulation. That is, altered ability or inability of the blood to clot. ",校对中... +HP:0001929,Reduced factor XI activity ,凝血因子XI活性减低,"Decreased activity of coagulation factor XI. Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX. ",校对中... +HP:0001930,Nonspherocytic hemolytic anemia ,非球形红细胞性溶血性贫血, , +HP:0001931,Hypochromic anemia ,低色素性贫血,A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes. ,校对中... +HP:0001933,Subcutaneous hemorrhage ,皮下出血,"This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses). ",校对中... +HP:0001934,Persistent bleeding after trauma ,创伤后持续性出血, , +HP:0001935,Microcytic anemia ,小细胞性贫血,A kind of anemia in which the volume of the red blood cells is reduced. ,校对中... +HP:0001937,Microangiopathic hemolytic anemia ,微血管病性溶血性贫血, , +HP:0001939,Abnormality of metabolism/homeostasis ,代谢紊乱/稳态失衡, , +HP:0001941,Acidosis ,酸中毒,Abnormal acid accumulation or depletion of base. ,校对中... +HP:0001942,Metabolic acidosis ,代谢性酸中毒,"Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause. ",校对中... +HP:0001943,Hypoglycemia ,低血糖,A decreased concentration of glucose in the blood. ,校对中... +HP:0001944,Dehydration ,脱水, , +HP:0001945,Fever ,发热,Body temperature elevated above the normal range. ,校对中... +HP:0001946,Ketosis ,酮症,Presence of elevated levels of ketone bodies in the body. ,校对中... +HP:0001947,Renal tubular acidosis ,肾小管性酸中毒,"Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. ",校对中... +HP:0001948,Alkalosis ,碱中毒,Depletion of acid or accumulation base in the body fluids. ,校对中... +HP:0001949,Hypokalemic alkalosis ,低钾性碱中毒, , +HP:0001950,Respiratory alkalosis ,呼吸性碱中毒,Alkalosis due to excess loss of carbon dioxide from the body. ,校对中... +HP:0001951,Episodic ammonia intoxication ,阵发性氨中毒, , +HP:0001952,Glucose intolerance ,糖耐量异常,Glucose intolerance (GI) can be defined as dysglycemia that comprises both prediabetes and diabetes. It includes the conditions of impaired fasting glucose (IFG) and impaired glucose tolerance (IGT) and diabetes mellitus (DM). ,校对中... +HP:0001953,Diabetic ketoacidosis ,糖尿病酮症酸中毒,A type of diabetic metabolic abnormality with an accumulation of ketone bodies. ,校对中... +HP:0001954,Recurrent fever ,阵发性发热,Periodic (episodic or recurrent) bouts of fever. ,校对中... +HP:0001955,Unexplained fevers ,不明原因的发热,Episodes of fever for which no infectious cause can be identified. ,校对中... +HP:0001956,Truncal obesity ,躯干性肥胖,Obesity located preferentially in the trunk of the body as opposed to the extremities. ,校对中... +HP:0001958,Nonketotic hypoglycemia ,非酮症性低血糖, , +HP:0001959,Polydipsia ,烦渴,Excessive thirst manifested by excessive fluid intake. ,校对中... +HP:0001960,Hypokalemic metabolic alkalosis ,低钾性代谢性碱中毒, , +HP:0001961,Hypoplastic heart ,心脏发育不全, , +HP:0001962,Palpitations ,心悸,"A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. ",校对中... +HP:0001963,Abnormal speech discrimination ,言语辨别异常,"A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss. ",校对中... +HP:0001964,Aplasia/Hypoplasia of metatarsal bones ,跖骨发育不良/发育不全,Absence or underdevelopment of the metatarsal bones. ,校对中... +HP:0001965,Abnormal scalp morphology ,头皮形态异常,"Any anomaly of the scalp, the skin an subcutaneous tissue of the head on which head hair grows. ",校对中... +HP:0001966,Abnormal glomerular mesangium morphology ,肾小球系膜形态异常,"An abnormality of the mesangium, i.e., of the central part of the renal glomerulus between capillaries. ",校对中... +HP:0001967,Diffuse mesangial sclerosis ,弥漫性肾小球系膜硬化,"Diffuse sclerosis of the mesangium, as manifestated by diffuse mesangial matrix expansion. ",���对中... +HP:0001969,Abnormal tubulointerstitial morphology ,肾小管间质形态异常,An abnormality that involves the tubules and interstitial tissue of the kidney. ,校对中... +HP:0001970,Tubulointerstitial nephritis ,肾小管间质性肾炎,A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. ,校对中... +HP:0001971,Hypersplenism ,脾功能亢进,A malfunctioning of the spleen in which it prematurely destroys red blood cells. ,校对中... +HP:0001972,Macrocytic anemia ,大细胞性贫血,A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH). ,校对中... +HP:0001973,Autoimmune thrombocytopenia ,自身免疫性血小板减少症,The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. ,校对中... +HP:0001974,Leukocytosis ,白细胞增多症,An abnormal increase in the number of leukocytes in the blood. ,校对中... +HP:0001975,Decreased platelet glycoprotein IIb-IIIa ,血小板糖蛋白Ⅱb-IIIA减少,Decreased cell membrane concentration of glycoprotein IIb-IIIa. ,校对中... +HP:0001976,Reduced antithrombin III activity ,抗凝血酶 III 活性减低,An abnormality of coagulation related to a decreased concentration of antithrombin-III. ,校对中... +HP:0001977,Abnormal thrombosis ,异常血栓形成,Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis). ,校对中... +HP:0001978,Extramedullary hematopoiesis ,髓外造血,"The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms. ",校对中... +HP:0001980,Megaloblastic bone marrow ,巨幼细胞性骨髓,Abnormal increased number of megaloblasts in the bone marrow. ,校对中... +HP:0001981,Schistocytosis ,裂(红)细胞症,The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood. ,校对中... +HP:0001982,Sea-blue histiocytosis ,海蓝色组织细胞增多症,"An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa. ",校对中... +HP:0001983,Reduced lymphocyte surface expression of CD43 ,淋巴细胞表面CD43表达降低,A reduction in the expression of CD43 on the cell surface of lymphocytes. ,校对中... +HP:0001984,Intolerance to protein ,蛋白质不耐受, , +HP:0001985,Hypoketotic hypoglycemia ,低酮性低血糖,A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. ,校对中... +HP:0001986,Hypertonic dehydration ,高渗性脱水, , +HP:0001987,Hyperammonemia ,高氨血症,An increased concentration of ammonia in the blood. ,校对中... +HP:0001988,Recurrent hypoglycemia ,反复发作性低血糖,Recurrent episodes of decreased concentration of glucose in the blood. ,校对中... +HP:0001989,Fetal akinesia sequence ,胎儿运动不能序列征,"Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). ",校对中... +HP:0001992,Organic aciduria ,有机酸尿症,Excretion of non-amino organic acids in urine. ,校对中... +HP:0001993,Ketoacidosis ,酮症酸中毒,Acidosis resulting from accumulation of ketone bodies. ,校对中... +HP:0001994,Renal Fanconi syndrome ,肾范可尼综合征,"An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water. ",校对中... +HP:0001995,Hyperchloremic acidosis ,高氯性酸中毒,Acidosis (pH less than 7.35) that develops with an increase in ionic chloride. ,校对中... +HP:0001996,Chronic metabolic acidosis ,慢性代谢性酸中毒,Longstanding metabolic acidosis. ,校对中... +HP:0001997,Gout ,痛风,"Recurrent attacks of acute inflammatory arthritis of a joint or set of joints caused by elevated levels of uric acid in the blood which crystallize and are deposited in joints, tendons, and surrounding tissues. ",校对中... +HP:0001998,Neonatal hypoglycemia ,新生儿低血糖, , +HP:0001999,Abnormal facial shape ,面部形状异常,An abnormal morphology (form) of the face or its components. ,校对中... +HP:0002000,Short columella ,鼻小柱短小,Reduced distance from the anterior border of the naris to the subnasale. ,校对中... +HP:0002002,Deep philtrum ,深人中沟,"Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border. ",校对中... +HP:0002003,Large forehead ,大额头, , +HP:0002006,Facial cleft ,面裂,A congenital malformation with a cleft (gap or opening) in the face. ,校对中... +HP:0002007,Frontal bossing ,前额突出,Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. ,校对中... +HP:0002009,Potter facies ,波特面容,"A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose. ",校对中... +HP:0002010,Narrow maxilla ,颌骨狭窄, , +HP:0002011,Morphological central nervous system abnormality ,中枢神经系统的形态异常,A structural abnormality of the central nervous system. ,校对中... +HP:0002013,Vomiting ,呕吐,Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. ,校对中... +HP:0002014,Diarrhea ,腹泻,Abnormally increased frequency of loose or watery bowel movements. ,校对中... +HP:0002015,Dysphagia ,吞咽困难,Difficulty in swallowing. ,校对中... +HP:0002017,Nausea and vomiting ,恶心和呕吐,"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. ",校对中... +HP:0002018,Nausea ,恶心,A sensation of unease in the stomach together with an urge to vomit. ,校对中... +HP:0002019,Constipation ,便秘,Infrequent or difficult evacuation of feces. ,校对中... +HP:0002020,Gastroesophageal reflux ,胃食管反流,A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter. ,校对中... +HP:0002021,Pyloric stenosis ,幽门狭窄,An abnormal narrowing of the pylorus. ,校对中... +HP:0002023,Anal atresia ,肛门闭锁,"Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. ",校对中... +HP:0002024,Malabsorption ,吸收不良,Impaired ability to absorb one or more nutrients from the intestine. ,校对中... +HP:0002025,Anal stenosis ,肛门狭窄,Abnormal narrowing of the anal opening. ,校对中... +HP:0002027,Abdominal pain ,腹痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. ",校对中... +HP:0002028,Chronic diarrhea ,慢性腹泻,"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. ",校对中... +HP:0002031,Abnormal esophagus morphology ,食管形态结构异常,A structural abnormality of the esophagus. ,校对中... +HP:0002032,Esophageal atresia ,食管闭锁,A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach. ,校对中... +HP:0002033,Poor suck ,吸吮无力,"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. ",校对中... +HP:0002034,Abnormal rectum morphology ,直肠形态结构异常,"An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. ",校对中... +HP:0002035,Rectal prolapse ,直肠脱垂,Protrusion of the rectal mucous membrane through the anus. ,校对中... +HP:0002036,Hiatus hernia ,裂孔疝,"The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus. ",校对中... +HP:0002037,Inflammation of the large intestine ,大肠炎症,"Inflammation, or an inflammatory state in the large intestine. ",校对中... +HP:0002038,Protein avoidance ,蛋白质回避, , +HP:0002039,Anorexia ,厌食症,A lack or loss of appetite for food (as a medical condition). ,校对中... +HP:0002040,Esophageal varix ,食管静脉曲张,Extreme dilation of the submucusoal veins in the lower portion of the esophagus. ,校对中... +HP:0002041,Intractable diarrhea ,顽固性腹泻, , +HP:0002043,Esophageal stricture ,食管狭窄,A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen. ,校对中... +HP:0002044,Zollinger-Ellison syndrome ,Zollinger-Ellison 综合征,"A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration. ",校对中... +HP:0002045,Hypothermia ,低体温,Reduced body temperature due to failed thermoregulation. ,校对中... +HP:0002046,Heat intolerance ,不耐热,The inability to maintain a comfortable body temperature in warm or hot weather. ,校对中... +HP:0002047,Malignant hyperthermia ,恶性高热,Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine. ,校对中... +HP:0002048,Renal cortical atrophy ,肾皮质萎缩,Atrophy of the cortex of the kidney. ,校对中... +HP:0002049,Proximal renal tubular acidosis ,近端肾小管酸中毒,"A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia. ",校对中... +HP:0002050,"Macroorchidism, postpubertal ",青春期后大睾丸, , +HP:0002055,Curved linear dimple below the lower lip ,下唇下弧形凹陷, , +HP:0002056,Abnormality of the glabella ,眉间异常,An abnormality of the glabella. ,校对中... +HP:0002057,Prominent glabella ,眉间突出,Forward protrusion of the glabella. ,校对中... +HP:0002058,Myopathic facies ,肌病性面容,"A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness. ",校对中... +HP:0002059,Cerebral atrophy ,脑萎缩,"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum. ",校对中... +HP:0002060,Abnormal cerebral morphology ,大脑形态学异常,"Any structural abnormality of the telencephalon, which is also known as the cerebrum. ",校对中... +HP:0002061,Lower limb spasticity ,下肢痉挛,"Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis ",校对中... +HP:0002062,Morphological abnormality of the pyramidal tract ,锥体束的形态异常,"Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts. ",校对中... +HP:0002063,Rigidity ,强直,"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity. ",校对中... +HP:0002064,Spastic gait ,痉挛步态,"Spasticity is manifested by increased stretch reflex which is intensified with movement velocity. This results in excessive and inappropriate muscle activation which can contribute to muscle hypertonia. Spastic gait is characterized by manifestations such as muscle hypertonia, stiff knee, and circumduction of the leg. ",校对中... +HP:0002066,Gait ataxia ,共济失调步态,A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. ,校对中... +HP:0002067,Bradykinesia ,运动迟缓,"Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement). ",校对中... +HP:0002068,Neuromuscular dysphagia ,神经肌肉源性吞咽困难, , +HP:0002069,Bilateral tonic-clonic seizure ,双侧强直- 阵挛发作,"A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase. ",校对中... +HP:0002070,Limb ataxia ,肢体共济失调,A kind of ataxia that affects movements of the extremities. ,校对中... +HP:0002071,Abnormality of extrapyramidal motor function ,锥体外系功能障碍,"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless). ",校对中... +HP:0002072,Chorea ,舞蹈样运动,"Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities. ",校对中... +HP:0002073,Progressive cerebellar ataxia ,进行性小脑共济失调, , +HP:0002074,Increased neuronal autofluorescent lipopigment ,神经元自体荧光脂褐素增加,"Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. ",校对中... +HP:0002075,Dysdiadochokinesis ,轮替运动障碍,"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible. ",校对中... +HP:0002076,Migraine ,偏头痛,Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms. ,校对中... +HP:0002077,Migraine with aura ,有先兆偏头痛,"A type of migraine in which there is an aura characterized by focal neurological phenomena that usually proceed, but may accompany or occur in the absence of, the headache. The symptoms of an aura may include fully reversible visual, sensory, and speech symptoms but not motor weakness. Visual symptoms may include flickering lights, spots and lines and/or loss of vision and/or unilateral sensory symptoms such as paresthesias or numbness. At least one of the symptoms of an aura develops gradually over 5 or more minutes and/or different symptoms occur in succession. ",校对中... +HP:0002078,Truncal ataxia ,躯干性共济失调,Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting. ,校对中... +HP:0002079,Hypoplasia of the corpus callosum ,胼胝体发育不良,Underdevelopment of the corpus callosum. ,校对中... +HP:0002080,Intention tremor ,意向性震颤,"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger). ",校对中... +HP:0002083,Migraine without aura ,无先兆偏头痛,"Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia. ",校对中... +HP:0002084,Encephalocele ,脑膨出,A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. ,校对中... +HP:0002085,Occipital encephalocele ,枕部脑膨出,"A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp. ",校对中... +HP:0002086,Abnormality of the respiratory system ,呼吸系统异常,"An abnormality of the respiratory system, which include the airways, lungs, and the respiratory muscles. ",校对中... +HP:0002087,Abnormality of the upper respiratory tract ,上呼吸道异常,An abnormality of the upper respiratory tract. ,校对中... +HP:0002088,Abnormal lung morphology ,肺部形态异常,Any structural anomaly of the lung. ,校对中... +HP:0002089,Pulmonary hypoplasia ,肺发育不良, , +HP:0002090,Pneumonia ,肺炎,Inflammation of any part of the lung parenchyma. ,校对中... +HP:0002091,Restrictive ventilatory defect ,限制性通气功能障碍,"A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus. ",校对中... +HP:0002092,Pulmonary arterial hypertension ,肺动脉高压,Pulmonary hypertension is defined mean pulmonary artery pressure of 25mmHg or more and pulmonary capillary wedge pressure of 15mmHg or less when measured by right heart catheterisation at rest and in a supine position. ,校对中... +HP:0002093,Respiratory insufficiency ,呼吸功能不全, , +HP:0002094,Dyspnea ,呼吸困难,"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. ",校对中... +HP:0002097,Emphysema ,气肿, , +HP:0002098,Respiratory distress ,呼吸窘迫,"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. ",校对中... +HP:0002099,Asthma ,哮喘,"Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. ",校对中... +HP:0002100,Recurrent aspiration pneumonia ,反复吸入性肺炎,"Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia. ",校对中... +HP:0002101,Abnormal lung lobation ,肺分叶异常,A developmental defect in the formation of pulmonary lobes. ,校对中... +HP:0002102,Pleuritis ,胸膜炎,Inflammation of the pleura. ,校对中... +HP:0002103,Abnormal pleura morphology ,胸膜异常,"An abnormality of the pulmonary pleura, the thin, transparent membrane which covers the lungs and lines the inside of the chest walls. ",校对中... +HP:0002104,Apnea ,呼吸暂停,Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event. ,校对中... +HP:0002105,Hemoptysis ,咯血,"Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs. ",校对中... +HP:0002107,Pneumothorax ,气胸,Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung. ,校对中... +HP:0002108,Spontaneous pneumothorax ,自发性气胸,Pneumothorax occurring without traumatic injury to the chest or lung. ,校对中... +HP:0002110,Bronchiectasis ,支气管扩张,Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. ,校对中... +HP:0002113,Pulmonary infiltrates ,肺浸润, , +HP:0002119,Ventriculomegaly ,巨脑室,An increase in size of the ventricular system of the brain. ,校对中... +HP:0002120,Cerebral cortical atrophy ,大脑皮层萎缩,Atrophy of the cortex of the cerebrum. ,校对中... +HP:0002121,Generalized non-motor (absence) seizure ,失神发作,"A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features. ",校对中... +HP:0002123,Generalized myoclonic seizure ,全面性肌阵挛发作,"A generalized myoclonic seizure is a type of generalized motor seizure characterised by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. ",校对中... +HP:0002126,Polymicrogyria ,多小脑回,Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds). ,校对中... +HP:0002127,Abnormal upper motor neuron morphology ,上运动神经元形态异常,Any structural anomaly that affects the upper motor neuron. ,校对中... +HP:0002131,Episodic ataxia ,发作性共济失调,"Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days. ",校对中... +HP:0002132,未找到信息,-,-,- +HP:0002133,Status epilepticus ,癫痫持续状态,"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures. ",校对中... +HP:0002134,Abnormality of the basal ganglia ,基底节异常,Abnormality of the basal ganglia. ,校对中... +HP:0002135,Basal ganglia calcification ,基底节钙化,The presence of calcium deposition affecting one or more structures of the basal ganglia. ,校对中... +HP:0002136,Broad-based gait ,宽基步态,An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia. ,校对中... +HP:0002138,Subarachnoid hemorrhage ,蛛网膜下腔出血,Hemorrhage occurring between the arachnoid mater and the pia mater. ,校对中... +HP:0002139,Arrhinencephaly ,无鼻无脑畸形, , +HP:0002140,Ischemic stroke ,缺血性脑卒中,"Acute ischemic stroke (AIS) is defined by the sudden loss of blood flow to an area of the brain with the resulting loss of neurologic function. It is caused by thrombosis or embolism that occludes a cerebral vessel supplying a specific area of the brain. During a vessel occlusion, there is a core area where damage to the brain is irreversible and an area of penumbra where the brain has lost function owing to decreased blood flow but is not irreversibly injured. ",校对中... +HP:0002141,Gait imbalance ,步态失平衡, , +HP:0002143,Abnormality of the spinal cord ,脊髓异常,An abnormality of the spinal cord (myelon). ,校对中... +HP:0002144,Tethered cord ,脊髓栓系,"During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord. ",校对中... +HP:0002145,Frontotemporal dementia ,额颞叶痴呆,"A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders. ",校对中... +HP:0002148,Hypophosphatemia ,低磷血症,An abnormally decreased phosphate concentration in the blood. ,校对中... +HP:0002149,Hyperuricemia ,高尿酸血症,An abnormally high level of uric acid in the blood. ,校对中... +HP:0002150,Hypercalciuria ,高钙尿症, , +HP:0002151,Increased serum lactate ,血清乳酸增高,Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism. The terms lactate and lactic acid are often used interchangeably but lactate (the component measured in blood) is strictly a weak base whereas lactic acid is the corresponding acid. Lactic acidosis is often used clinically to describe elevated lactate but should be reserved for cases where there is a corresponding acidosis (pH below 7.35). ,校对中... +HP:0002152,Hyperproteinemia ,高蛋白血症,An increased concentration of proteins in the blood. ,校对中... +HP:0002153,Hyperkalemia ,高钾血症,An abnormally increased potassium concentration in the blood. ,校对中... +HP:0002154,Hyperglycinemia ,高甘氨酸血症,An elevated concentration of glycine in the blood. ,校对中... +HP:0002155,Hypertriglyceridemia ,高甘油三酯血症,An abnormal increase in the level of triglycerides in the blood. ,校对中... +HP:0002156,Homocystinuria ,高胱氨酸尿症,An increased concentration of homocystine in the urine. ,校对中... +HP:0002157,Azotemia ,氮质血症,An increased concentration of nitrogen compounds in the blood. ,校对中... +HP:0002159,Heparan sulfate excretion in urine ,尿中硫酸乙酰肝素排泄,An increased concentration of heparan sulfates in the urine. ,校对中... +HP:0002160,Hyperhomocystinemia ,高同型半胱氨酸血症,An increased concentration of homocystine in the blood. ,校对中... +HP:0002161,Hyperlysinemia ,高赖氨酸血症,An increased concentration of lysine in the blood. ,校对中... +HP:0002162,Low posterior hairline ,后发际低,Hair on the neck extends more inferiorly than usual. ,校对中... +HP:0002164,Nail dysplasia ,甲发育不良,The presence of developmental dysplasia of the nail. ,校对中... +HP:0002165,Pterygium of nails ,指甲翼状胬肉,Inward advance of skin over the nail plate. ,校对中... +HP:0002166,Impaired vibration sensation in the lower limbs ,下肢振动觉障碍,A decrease in the ability to perceive vibration in the legs. ,校对中... +HP:0002167,Neurological speech impairment ,神经语言障碍, , +HP:0002168,Scanning speech ,断续言语,"An abnormal pattern of speech in which the words are as if measured or scanned; there is a pause after every syllable, and the syllables themselves are pronounced slowly. ",校对中... +HP:0002169,Clonus ,阵挛,A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch. ,校对中... +HP:0002170,Intracranial hemorrhage ,颅内出血,Hemorrhage occurring within the skull. ,校对中... +HP:0002171,Gliosis ,胶质细胞增生,Gliosis is the focal proliferation of glial cells in the central nervous system. ,校对中... +HP:0002172,Postural instability ,姿势不稳,"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps. ",校对中... +HP:0002173,Hypoglycemic seizures ,低血糖发作, , +HP:0002174,Postural tremor ,姿势性震颤,A type of tremors that is triggered by holding a limb in a fixed position. ,校对中... +HP:0002176,Spinal cord compression ,脊髓受压,External mechanical compression of the spinal cord. ,校对中... +HP:0002179,Opisthotonus ,角弓反张, , +HP:0002180,Neurodegeneration ,神经变性,Progressive loss of neural cells and tissue. ,校对中... +HP:0002181,Cerebral edema ,脑水肿,Abnormal accumulation of fluid in the brain. ,校对中... +HP:0002183,Phonophobia ,声音恐惧,An abnormally heightened sensitivity to loud sounds. ,校对中... +HP:0002185,Neurofibrillary tangles ,神经原纤维缠结,"Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form. ",校对中... +HP:0002186,Apraxia ,失用,"A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements. ",校对中... +HP:0002187,"Intellectual disability, profound ",极重度智力残疾,Profound mental retardation is defined as an intelligence quotient (IQ) below 20. ,校对中... +HP:0002188,Delayed CNS myelination ,中枢神经系统的髓鞘化延迟,Delayed myelination in the central nervous system. ,校对中... +HP:0002190,Choroid plexus cyst ,脉络丛囊肿,A cyst occurring within the choroid plexus within a cerebral ventricle. ,校对中... +HP:0002191,Progressive spasticity ,进行性痉挛,Spasticity that increases in degree with time. ,校对中... +HP:0002193,Pseudobulbar behavioral symptoms ,假性延髓行为症状,Individuals with Pseudobulbar signs often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. ,校对中... +HP:0002194,Delayed gross motor development ,粗大运动发育迟缓,"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. ",校对中... +HP:0002195,Dysgenesis of the cerebellar vermis ,小脑蚓部发育不全,Defective development of the vermis of cerebellum. ,校对中... +HP:0002196,Myelopathy ,脊髓病, , +HP:0002197,Generalized-onset seizure ,全面性发作,"A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilaterally distributed networks. The networks may include cortical and subcortical structures but not necessarily the entire cortex. ",校对中... +HP:0002198,Dilated fourth ventricle ,第四脑室扩张,An abnormal dilatation of the fourth cerebral ventricle. ,校对中... +HP:0002199,Hypocalcemic seizures ,低钙发作, , +HP:0002200,Pseudobulbar signs ,假性球麻痹症状,"Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. ",校对中... +HP:0002202,Pleural effusion ,胸腔积液,The presence of an excessive amount of fluid in the pleural cavity. ,校对中... +HP:0002203,Respiratory paralysis ,呼吸肌麻痹,Inability to move the muscles of respiration. ,校对中... +HP:0002204,Pulmonary embolism ,肺栓塞,"An embolus (that is, an abnormal particle circulating in the blood) located in the pulmonary artery and thereby blocking blood circulation to the lung. Usually the embolus is a blood clot that has developed in an extremity (for instance, a deep venous thrombosis), detached, and traveled through the circulation before becoming trapped in the pulmonary artery. ",校对中... +HP:0002205,Recurrent respiratory infections ,反复呼吸道感染,An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. ,校对中... +HP:0002206,Pulmonary fibrosis ,肺纤维化,Replacement of normal lung tissues by fibroblasts and collagen. ,校对中... +HP:0002207,Diffuse reticular or finely nodular infiltrations ,弥漫性网状或细结节状浸润, , +HP:0002208,Coarse hair ,毛发粗糙,Hair shafts are rough in texture. ,校对中... +HP:0002209,Sparse scalp hair ,脱发,Decreased number of hairs per unit area of skin of the scalp. ,校对中... +HP:0002211,White forelock ,额发变白,A triangular depigmented region of white hairs located in the anterior midline of the scalp. ,校对中... +HP:0002212,Curly hair ,卷曲样发, , +HP:0002213,Fine hair ,绒毛,Hair that is fine or thin to the touch. ,校对中... +HP:0002215,Sparse axillary hair ,腋毛稀疏,Reduced number or density of axillary hair. ,校对中... +HP:0002216,Premature graying of hair ,少白头,Development of gray hair at a younger than normal age. ,校对中... +HP:0002217,Slow-growing hair ,毛发生长缓慢,Hair whose growth is slower than normal. ,校对中... +HP:0002218,Silver-gray hair ,银灰色毛发,Hypopigmented hair that appears silver-gray. ,校对中... +HP:0002219,Facial hypertrichosis ,面部多毛症（先天性）,"Excessive, increased hair growth located in the facial region. ",校对中... +HP:0002220,Melanin pigment aggregation in hair shafts ,发干部位色素沉积, , +HP:0002221,Absent axillary hair ,腋毛稀疏,Absence of axillary hair. ,校对中... +HP:0002223,Absent eyebrow ,无眉,Absence of the eyebrow. ,校对中... +HP:0002224,Woolly hair ,羊毛状发,"The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. ",校对中... +HP:0002225,Sparse pubic hair ,阴毛稀疏,Reduced number or density of pubic hair. ,校对中... +HP:0002226,White eyebrow ,白眉,White color (lack of pigmentation) of the eyebrow. ,校对中... +HP:0002227,White eyelashes ,白睫,White color (lack of pigmentation) of the eyelashes. ,校对中... +HP:0002230,Generalized hirsutism ,全身性多毛症,Abnormally increased hair growth over much of the entire body. ,校对中... +HP:0002231,Sparse body hair ,体毛稀疏,Sparseness of the body hair. ,校对中... +HP:0002232,Patchy alopecia ,片形脱发，鬼剃头,"Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. ",校对中... +HP:0002234,Early balding ,早期秃发,Loss of scalp hair at an earlier than normal age. ,校对中... +HP:0002235,Pili canaliculi ,隧道毛发,Uncombable hair. ,校对中... +HP:0002236,Frontal upsweep of hair ,前额卷发,Upward and/or sideward growth of anterior hair. ,校对中... +HP:0002239,Gastrointestinal hemorrhage ,胃肠道出血,Hemorrhage affecting the gastrointestinal tract. ,校对中... +HP:0002240,Hepatomegaly ,肝脏肿大,Abnormally increased size of the liver. ,校对中... +HP:0002242,Abnormal intestine morphology ,小肠形态异常,An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. ,校对中... +HP:0002243,Protein-losing enteropathy ,蛋白丢失性肠病,Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. ,校对中... +HP:0002244,Abnormality of the small intestine ,小肠异常,An abnormality of the small intestine. ,校对中... +HP:0002245,Meckel diverticulum ,Meckel憩室,Meckel's diverticulum is a congenital diverticulum located in the distal ileum. ,校对中... +HP:0002246,Abnormal duodenum morphology ,十二指肠形态异常,"An abnormality of the duodenum, i.e., the first section of the small intestine. ",校对中... +HP:0002247,Duodenal atresia ,十二指肠闭锁,"A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum. ",校对中... +HP:0002248,Hematemesis ,呕血,The vomiting of blood. ,校对中... +HP:0002249,Melena ,黑便,"The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. ",校对中... +HP:0002250,Abnormal large intestine morphology ,大肠形态异常,Any abnormality of the large intestine. ,校对中... +HP:0002251,Aganglionic megacolon ,无神经节性巨结肠,"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon. ",校对中... +HP:0002253,Colonic diverticula ,结肠憩室,The presence of multiple diverticula of the colon. ,校对中... +HP:0002254,Intermittent diarrhea ,间歇性腹泻,Repeated episodes of diarrhea separated by periods without diarrhea. ,校对中... +HP:0002256,Small bowel diverticula ,小肠憩室, , +HP:0002257,Chronic rhinitis ,慢性鼻炎,Chronic inflammation of the nasal mucosa. ,校对中... +HP:0002263,Exaggerated cupid's bow ,夸张的丘比特唇弓,More pronounced paramedian peaks and median notch of the Cupid's bow. ,校对中... +HP:0002265,Large fleshy ears ,肥大耳, , +HP:0002266,Focal clonic seizure ,局灶性阵挛性发作,"A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. ",校对中... +HP:0002267,Exaggerated startle response ,过度惊跳反射,"An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face. ",校对中... +HP:0002268,Paroxysmal dystonia ,阵发性肌张力障碍,A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes. ,校对中... +HP:0002269,Abnormality of neuronal migration ,神经细胞迁移异常,"An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain. ",校对中... +HP:0002270,Abnormality of the autonomic nervous system ,自主神经系统异常,An abnormality of the autonomic nervous system. ,校对中... +HP:0002273,Tetraparesis ,四肢轻瘫,Weakness of all four limbs. ,校对中... +HP:0002275,Poor motor coordination ,运动不协调, , +HP:0002277,Horner syndrome ,霍纳综合征,"An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection. ",校对中... +HP:0002280,Enlarged cisterna magna ,小脑延髓池扩大,"Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata. ",校对中... +HP:0002282,Gray matter heterotopia ,脑灰质异位,"Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter. ",校对中... +HP:0002283,Global brain atrophy ,全脑萎缩,Unlocalized atrophy of the brain with decreased total brain matter volume and increased ventricular size. ,校对中... +HP:0002286,Fair hair ,金发,A lesser degree of hair pigmentation than would otherwise be expected. ,校对中... +HP:0002287,Progressive alopecia ,进行性脱发,Progressive loss of hair. ,校对中... +HP:0002289,Alopecia universalis ,全身毛发脱失,Loss of all hair on the entire body. ,校对中... +HP:0002290,Poliosis ,白发,Circumscribed depigmentation of the hair of the head or the eyelashes. ,校对中... +HP:0002292,Frontal balding ,前额秃发,Absence of hair in the anterior midline and/or parietal areas. ,校对中... +HP:0002293,Alopecia of scalp ,头皮脱发, , +HP:0002296,Progressive hypotrichosis ,进行性少毛症,Progressively reduced or lacking hair growth. ,校对中... +HP:0002297,Red hair ,红发, , +HP:0002298,Absent hair ,毛发缺失, , +HP:0002299,Brittle hair ,毛发干枯,"Fragile, easily breakable hair, i.e., with reduced tensile strength. ",校对中... +HP:0002300,Mutism ,缄默症, , +HP:0002301,Hemiplegia ,偏瘫,"Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body. ",校对中... +HP:0002304,Akinesia ,运动不能,Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily. ,校对中... +HP:0002305,Athetosis ,手足徐动症,"A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest. ",校对中... +HP:0002307,Drooling ,流涎,Habitual flow of saliva out of the mouth. ,校对中... +HP:0002308,Arnold-Chiari malformation ,小脑扁桃体下疝畸形,"Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow. ",校对中... +HP:0002310,Orofacial dyskinesia ,口面运动障碍, , +HP:0002311,Incoordination ,不协调, , +HP:0002312,Clumsiness ,笨拙,Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects. ,校对中... +HP:0002313,Spastic paraparesis ,痉挛性双下肢瘫, , +HP:0002314,Degeneration of the lateral corticospinal tracts ,皮质脊髓侧束变性,Deterioration of the tissues of the lateral corticospinal tracts. ,校对中... +HP:0002315,Headache ,头痛,"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. ",校对中... +HP:0002317,Unsteady gait ,步态不稳, , +HP:0002318,Cervical myelopathy ,脊髓型颈椎病, , +HP:0002321,Vertigo ,眩晕,An abnormal sensation of spinning while the body is actually stationary. ,校对中... +HP:0002322,Resting tremor ,静止性震颤,A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse. ,校对中... +HP:0002323,Anencephaly ,无脑畸形,"Anencephaly is a developmental anomaly characterized by a fetus that has no calvarium, with a lack of most or all of the fetus' brain tissue. Anencephaly belongs to a collective group known as neural tube defects (NTD) and is a result of the neural tube failing to close in its rostral end during fetal development. ",校对中... +HP:0002324,Hydranencephaly ,积水型无脑畸形,A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue. ,校对中... +HP:0002326,Transient ischemic attack ,短暂性脑缺血发作, , +HP:0002329,Drowsiness ,困倦,Excessive daytime sleepiness. ,校对中... +HP:0002330,Paroxysmal drowsiness ,阵发性嗜睡,Attacks of disabling daytime drowsiness and low alertness. ,校对中... +HP:0002331,Recurrent paroxysmal headache ,反复发作性头痛,"Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality. ",校对中... +HP:0002332,Lack of peer relationships ,同伴关系缺乏, , +HP:0002333,Motor deterioration ,运动功能减退,"Loss of previously present motor (i.e., movement) abilities. ",校对中... +HP:0002334,Abnormal cerebellar vermis morphology ,小脑蚓部形态异常,An anomaly of the vermis of cerebellum. ,校对中... +HP:0002335,Agenesis of cerebellar vermis ,小脑蚓部发育不全,Congenital absence of the vermis of cerebellum. ,校对中... +HP:0002339,Abnormal caudate nucleus morphology ,尾状核形态异常,Any structural abnormality of the caudate nucleus. ,校对中... +HP:0002340,Caudate atrophy ,尾状核萎缩, , +HP:0002341,Cervical cord compression ,颈脊髓压迫症,"Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness. ",校对中... +HP:0002342,"Intellectual disability, moderate ",中度智力残疾,Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. ,校对中... +HP:0002343,Normal pressure hydrocephalus ,正常压力性脑积水,A form of hydrocephalus characterized by enlarged cerebral ventricles and normal cerebrospinal fluid (CSF) pressure upon lumbar puncture. ,校对中... +HP:0002344,Progressive neurologic deterioration ,进行性神经功能恶化, , +HP:0002345,Action tremor ,动作性震颤,"A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement. ",校对中... +HP:0002346,Head tremor ,头部震颤,"An unintentional, oscillating to-and-fro muscle movement affecting head movement. ",校对中... +HP:0002349,Focal aware seizure ,知觉保留的局灶性发作,"A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile. ",校对中... +HP:0002350,Cerebellar cyst ,小脑囊肿, , +HP:0002352,Leukoencephalopathy ,白质脑病,This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. ,校对中... +HP:0002353,EEG abnormality ,脑电图异常,"Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp. ",校对中... +HP:0002354,Memory impairment ,记忆障碍,"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness. ",校对中... +HP:0002355,Difficulty walking ,行走困难,Reduced ability to walk (ambulate). ,校对中... +HP:0002356,Writer's cramp ,书写痉挛,"A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument. ",校对中... +HP:0002357,Dysphasia ,语言障碍, , +HP:0002359,Frequent falls ,频繁跌倒, , +HP:0002360,Sleep disturbance ,睡眠障碍,"An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness. ",校对中... +HP:0002361,Psychomotor deterioration ,精神运动性恶化,Loss of previously present mental and motor abilities. ,校对中... +HP:0002362,Shuffling gait ,曳行步态,A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground. ,校对中... +HP:0002363,Abnormal brainstem morphology ,脑干形态异常,An anomaly of the brainstem. ,校对中... +HP:0002365,Hypoplasia of the brainstem ,脑干发育不良,Underdevelopment of the brainstem. ,校对中... +HP:0002366,Abnormal lower motor neuron morphology ,下运动神经元形态异常,Any structural anomaly of the lower motor neuron. ,校对中... +HP:0002367,Visual hallucinations ,幻视,Visual perceptions that are not elicited by a corresponding stimulus from the outside world. ,校对中... +HP:0002370,Poor coordination ,协调能力下降, , +HP:0002371,Loss of speech ,言语不能, , +HP:0002372,Normal interictal EEG ,发作间期正常脑电图,"Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis. ",校对中... +HP:0002373,Febrile seizure (within the age range of 3 months to 6 years) ,高热惊厥(年龄在3个月至6岁之间),"A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years. ",校对中... +HP:0002374,Diminished movement ,运动减少, , +HP:0002375,Hypokinesia ,运动减少,"Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency. ",校对中... +HP:0002376,Developmental regression ,发育倒退,"Loss of developmental skills, as manifested by loss of developmental milestones. ",校对中... +HP:0002378,Hand tremor ,手部震颤,"An unintentional, oscillating to-and-fro muscle movement affecting the hand. ",校对中... +HP:0002380,Fasciculations ,肌束震颤,"Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units. ",校对中... +HP:0002381,Aphasia ,失语症,An acquired language impairment of some or all of the abilities to produce or comprehend speech and to read or write. ,校对中... +HP:0002383,Encephalitis ,脑炎, , +HP:0002384,Focal impaired awareness seizure ,知觉受损的局灶性发作,Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure. ,校对中... +HP:0002385,Paraparesis ,下肢轻瘫,Weakness or partial paralysis in the lower limbs. ,校对中... +HP:0002389,Cavum septum pellucidum ,第五脑室,If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space. ,校对中... +HP:0002390,Spinal arteriovenous malformation ,脊髓动静脉畸形, , +HP:0002392,EEG with polyspike wave complexes ,脑电图，伴多棘慢复合波,The presence of complexes of repetitive spikes and waves in EEG. ,校对中... +HP:0002395,Lower limb hyperreflexia ,下肢腱反射亢进, , +HP:0002396,Cogwheel rigidity ,齿轮样强直,"A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched). ",校对中... +HP:0002398,Degeneration of anterior horn cells ,前角细胞变性, , +HP:0002401,Stroke-like episode ,卒中样发作,"No consensus exists on what a stroke-like episode is, but these episodes can be functionally defined as a new neurological deficit, occurring with or without the context of seizures, which last longer than 24 hours. ",校对中... +HP:0002403,Positive Romberg sign ,闭目难立征阳性,The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception. ,校对中... +HP:0002404,Thickened superior cerebellar peduncle ,小脑上脚增厚,Increased width of the superior cerebellar peduncle. ,校对中... +HP:0002406,Limb dysmetria ,肢体辨距不良,A type of dysmetria involving the limbs. ,校对中... +HP:0002408,Cerebral arteriovenous malformation ,脑动静脉畸形,An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain. ,校对中... +HP:0002410,Aqueductal stenosis ,中脑导水管狭窄,"Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum. ",校对中... +HP:0002411,Myokymia ,肌纤维颤搐,"Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle. ",校对中... +HP:0002414,Spina bifida ,脊柱裂,"Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. ",校对中... +HP:0002415,Leukodystrophy ,脑白质营养不良,Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies. ,校对中... +HP:0002416,Subependymal cysts ,室管膜下囊肿,"Cerebral cysts, usually located in the wall of the caudate nucleus or in the caudothalamic groove. They are found in up to 5.2% of all neonates, using transfontanellar ultrasound in the first days of life. ",校对中... +HP:0002418,Abnormal midbrain morphology ,中脑形态异常,"An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct. ",校对中... +HP:0002419,Molar tooth sign on MRI ,磁共振磨牙征,An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth. ,校对中... +HP:0002421,Poor head control ,头部控制能力弱,Difficulty to maintain correct position of the head while standing or sitting. ,校对中... +HP:0002423,Long-tract signs ,长束征, , +HP:0002425,Anarthria ,构音障碍,A defect in the motor ability that enables speech. ,校对中... +HP:0002427,Expressive aphasia ,运动性失语,"Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it. ",校对中... +HP:0002435,Meningocele ,脑脊膜膨出,Protrusion of the meninges through a defect of the vertebral column. ,校对中... +HP:0002436,Occipital meningocele ,枕脊膜膨出,A herniation of meninges through a congenital bone defect in the skull in the occipital region. ,校对中... +HP:0002438,Cerebellar malformation ,小脑畸形, , +HP:0002439,Frontolimbic dementia ,额叶和边缘叶痴呆, , +HP:0002442,Dyscalculia ,计算困难,A specific learning disability involving mathematics and arithmetic. ,校对中... +HP:0002444,Hypothalamic hamartoma ,下丘脑错构瘤,The presence of a hamartoma of the hypothalamus. ,校对中... +HP:0002445,Tetraplegia ,四肢瘫,"Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord. ",校对中... +HP:0002446,Astrocytosis ,星形胶质细胞增殖,Proliferation of astrocytes in the area of a lesion of the central nervous system. ,校对中... +HP:0002448,Progressive encephalopathy ,进行性脑病, , +HP:0002450,Abnormal motor neuron morphology ,运动神经元的形态异常,Any structural anomaly that affects the motor neuron. ,校对中... +HP:0002451,Limb dystonia ,肢体肌张力障碍,A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs. ,校对中... +HP:0002453,Abnormal globus pallidus morphology ,苍白球形态异常,An abnormality of the globus pallidus. ,校对中... +HP:0002454,Eye of the tiger anomaly of globus pallidus ,苍白球虎眼征,"The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the globus pallidus that surrounds a central region of high signal intensity in the anteromedial globus pallidus, producing an eye-of-the-tiger appearance. ",校对中... +HP:0002457,Abnormal head movements ,头部运动异常, , +HP:0002460,Distal muscle weakness ,远端肌无力,Reduced strength of the musculature of the distal extremities. ,校对中... +HP:0002461,Dense calcifications in the cerebellar dentate nucleus ,小脑齿状核致密钙化, , +HP:0002463,Language impairment ,语言障碍,"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations. ",校对中... +HP:0002464,Spastic dysarthria ,痉挛性构音障碍,"A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality. ",校对中... +HP:0002465,Poor speech ,少言寡语, , +HP:0002470,Nonprogressive cerebellar ataxia ,非进行性小脑性共济失调, , +HP:0002472,Small cerebral cortex ,小大脑皮层,Reduced size of the cerebral cortex. ,校对中... +HP:0002474,Expressive language delay ,语言表达延迟,"A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. ",校对中... +HP:0002475,Myelomeningocele ,脊髓脊膜膨出,Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column. ,校对中... +HP:0002476,Primitive reflex ,原始反射,"The primitive reflexes are a group of behavioural motor responses which are found in normal early development, are subsequently inhibited, but may be released from inhibition by cerebral, usually frontal, damage. They are thus part of a broader group of reflexes which reflect release phenomena, such as exaggerated stretch reflexes and extensor plantars. They do however involve more complex motor responses than such simple stretch reflexes, and are often a normal feature in the neonate or infant. ",校对中... +HP:0002478,Progressive spastic quadriplegia ,进行性痉挛性四肢瘫, , +HP:0002480,Hepatic encephalopathy ,肝性脑病,"Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes. ",校对中... +HP:0002483,Bulbar signs ,球部体征, , +HP:0002486,Myotonia ,肌强直,An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. ,校对中... +HP:0002487,Hyperkinetic movements ,运动过多,Motor hyperactivity with excessive movement of muscles of the body as a whole. ,校对中... +HP:0002488,Acute leukemia ,急性白血病,"A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). ",校对中... +HP:0002490,Increased CSF lactate ,脑脊液乳酸升高,Increased concentration of lactate in the cerebrospinal fluid. ,校对中... +HP:0002491,Spasticity of facial muscles ,面肌痉挛,Spasticity of one or more muscles innervated by the facial nerve. ,校对中... +HP:0002492,Morphological abnormality of the corticospinal tract ,皮质脊髓束形态异常,"Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord. ",校对中... +HP:0002493,Upper motor neuron dysfunction ,上运动神经元功能障碍/功能异常,"A functional anomaly of the upper motor neuron. The upper motor neurons are neurons of the primary motor cortex which project to the brainstem and spinal chord via the corticonuclear, corticobulbar and corticospinal (pyramidal) tracts. They are involved in control of voluntary movements. Dysfunction leads to weakness, impairment of fine motor movements, spasticity, hyperreflexia and abnormal pyramidal signs. ",校对中... +HP:0002494,Abnormal rapid eye movement sleep ,快速眼动期睡眠异常,"Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements. ",校对中... +HP:0002495,Impaired vibratory sensation ,振动觉异常,"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient. ",校对中... +HP:0002497,Spastic ataxia ,痉挛性共济失调, , +HP:0002500,Abnormal cerebral white matter morphology ,脑白质形态异常,An abnormality of the cerebral white matter. ,校对中... +HP:0002501,Spasticity of pharyngeal muscles ,喉头痉挛, , +HP:0002503,Spinocerebellar tract degeneration ,脊髓小脑束变性, , +HP:0002504,Calcification of the small brain vessels ,脑小血管钙化,Deposition of calcium salts within small blood vessels of the brain. ,校对中... +HP:0002505,Progressive inability to walk ,进行性行走不能, , +HP:0002506,Diffuse cerebral atrophy ,弥漫性脑萎缩,Diffuse unlocalised atrophy affecting the cerebrum. ,校对中... +HP:0002507,Semilobar holoprosencephaly ,半脑叶前脑无裂畸形,A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly. ,校对中... +HP:0002508,Brainstem dysplasia ,脑干发育不良,"A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord. ",校对中... +HP:0002509,Limb hypertonia ,肢体张力亢进, , +HP:0002510,Spastic tetraplegia ,痉挛性四肢瘫,Spastic paralysis affecting all four limbs. ,校对中... +HP:0002511,Alzheimer disease ,阿尔茨海默病,"A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. ",校对中... +HP:0002512,Brain stem compression ,脑干受压, , +HP:0002514,Cerebral calcification ,脑钙化,The presence of calcium deposition within brain structures. ,校对中... +HP:0002515,Waddling gait ,蹒跚步态,"Weakness of the hip girdle and upper thigh muscles, for instance in myopathies, leads to an instability of the pelvis on standing and walking. If the muscles extending the hip joint are affected, the posture in that joint becomes flexed and lumbar lordosis increases. The patients usually have difficulties standing up from a sitting position. Due to weakness in the gluteus medius muscle, the hip on the side of the swinging leg drops with each step (referred to as Trendelenburg sign). The gait appears waddling. The patients frequently attempt to counteract the dropping of the hip on the swinging side by bending the trunk towards the side which is in the stance phase (in the German language literature this is referred to as Duchenne sign). Similar gait patterns can be caused by orthopedic conditions when the origin and the insertion site of the gluteus medius muscle are closer to each other than normal, for instance due to a posttraumatic elevation of the trochanter or pseudarthrosis of the femoral neck. ",校对中... +HP:0002516,Increased intracranial pressure ,颅内压增高,An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. ,校对中... +HP:0002518,Abnormal periventricular white matter morphology ,脑室周围白质形态异常,A structural abnormality of the myelinated axons (white matter) located near the cerebral ventricles. ,校对中... +HP:0002519,Hypnagogic hallucinations ,睡前幻觉,Fleeting perceptual experiences that occur during the transition from wakefulness to sleep. ,校对中... +HP:0002521,Hypsarrhythmia ,高度失律,"Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG). ",校对中... +HP:0002522,Areflexia of lower limbs ,下肢反射消失,Inability to elicit tendon reflexes in the lower limbs. ,校对中... +HP:0002524,Cataplexy ,猝倒症,"A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions. ",校对中... +HP:0002527,Falls ,跌倒, , +HP:0002528,Granulovacuolar degeneration ,颗粒空泡变性,Electron-dense granules within double membrane-bound cytoplasmic vacuoles. ,校对中... +HP:0002529,Neuronal loss in central nervous system ,中枢神经系统神经元损失, , +HP:0002530,Axial dystonia ,轴向肌张力障碍,"A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles. ",校对中... +HP:0002533,Abnormal posturing ,姿势异常,Involuntary flexion or extension of the arms and legs. ,校对中... +HP:0002536,Abnormal cortical gyration ,脑皮质沟回异常,"An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain. ",校对中... +HP:0002538,Abnormal cerebral cortex morphology ,大脑皮层形态异常,Any structural abnormality of the cerebral cortex. ,校对中... +HP:0002539,Cortical dysplasia ,皮质发育不良,The presence of developmental dysplasia of the cerebral cortex. ,校对中... +HP:0002540,Inability to walk ,行走不能,Incapability to ambulate. ,校对中... +HP:0002542,Olivopontocerebellar atrophy ,橄榄桥脑小脑萎缩,"Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. ",校对中... +HP:0002544,Retrocollis ,颈后倾,"A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture. ",校对中... +HP:0002545,Patchy demyelination of subcortical white matter ,皮层下白质片状脱髓鞘,Patchy loss of myelin from nerve fibers in the central nervous system. ,校对中... +HP:0002546,Incomprehensible speech ,难以理解的言语, , +HP:0002548,Parkinsonism with favorable response to dopaminergic medication ,对多巴胺能药物反应良好的帕金森,"Parkinsonism is a clinical syndrome that is a feature of a number of different diseases, including Parkinson disease itself, other neurodegenerative diseases such as progressive supranuclear palsy, and as a side-effect of some neuroleptic medications. Some but not all individuals with Parkinsonism show responsiveness to dopaminergic medication defined as a substantial reduction of amelioration of the component signs of Parkinsonism (including mainly tremor, bradykinesia, rigidity, and postural instability) upon administration of dopaminergic medication. ",校对中... +HP:0002549,Deficit in phonologic short-term memory ,语音短时记忆缺陷,Impaired ability to repeat non-word sounds. The test for nonword repetition involves the repetition of nonsensical words of increasing length and complexity and is regarded as a measure of phonological (speech sound) processing and short-term memory ,校对中... +HP:0002550,Absent facial hair ,面部毛发稀疏,Absence of facial hair. ,校对中... +HP:0002552,Trichodysplasia ,毛发发育异常,Developmental dysplasia of the hair. ,校对中... +HP:0002553,Highly arched eyebrow ,高拱形眉毛,"Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape. ",校对中... +HP:0002555,Absent pubic hair ,阴毛缺失,Absence of pubic hair. ,校对中... +HP:0002557,Hypoplastic nipples ,乳头发育不良,Underdevelopment of the nipple. ,校对中... +HP:0002558,Supernumerary nipple ,多乳头,Presence of more than two nipples. ,校对中... +HP:0002561,Absent nipple ,乳头缺失,"Congenital failure to develop, and absence of, the nipple. ",校对中... +HP:0002562,Low-set nipples ,乳头低位,Placement of the nipples at a lower than normal location. ,校对中... +HP:0002563,Constrictive pericarditis ,缩窄性心包炎,"Presence of a thickened, fibrotic pericardium that forms a non-compliant shell around the heart, and resulting from chronic inflammation of the pericardium. ",校对中... +HP:0002566,Intestinal malrotation ,肠旋转不良,"An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis. ",校对中... +HP:0002570,Steatorrhea ,脂肪泻,Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. ,校对中... +HP:0002571,Achalasia ,贲门失弛缓症,A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus. ,校对中... +HP:0002572,Episodic vomiting ,阵发性呕吐,"Paroxysmal, recurrent episodes of vomiting. ",校对中... +HP:0002573,Hematochezia ,便血,"The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. ",校对中... +HP:0002574,Episodic abdominal pain ,阵发性腹痛,An intermittent form of abdominal pain. ,校对中... +HP:0002575,Tracheoesophageal fistula ,气管食管瘘,An abnormal connection (fistula) between the esophagus and the trachea. ,校对中... +HP:0002576,Intussusception ,肠套叠,An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. ,校对中... +HP:0002577,Abnormal stomach morphology ,胃形态异常,An abnormality of the stomach. ,校对中... +HP:0002578,Gastroparesis ,胃轻瘫,"Decreased strength of the muscle layer of stomach, which leads to a decreased ability to empty the contents of the stomach despite the absence of obstruction. ",校对中... +HP:0002579,Gastrointestinal dysmotility ,胃肠动力障碍,"Abnormal intestinal contractions, such as spasms and intestinal paralysis, related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. ",校对中... +HP:0002580,Volvulus ,肠扭转,Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue. ,校对中... +HP:0002582,Chronic atrophic gastritis ,慢性萎缩性胃炎,A form of chronic gastritis associated with atrophic gastric mucous membrane. ,校对中... +HP:0002583,Colitis ,结肠炎,"Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. ",校对中... +HP:0002584,Intestinal bleeding ,肠道出血,Bleeding from the intestines. ,校对中... +HP:0002585,Abnormality of the peritoneum ,腹膜异常,An abnormality of the peritoneum. ,校对中... +HP:0002586,Peritonitis ,腹膜炎,Inflammation of the peritoneum. ,校对中... +HP:0002587,Projectile vomiting ,喷射性呕吐,Vomiting that ejects the gastric contents with great force. ,校对中... +HP:0002588,Duodenal ulcer ,十二指肠溃疡,An erosion of the mucous membrane in a portion of the duodenum. ,校对中... +HP:0002589,Gastrointestinal atresia ,消化道闭锁, , +HP:0002590,Paralytic ileus ,麻痹性肠梗阻, , +HP:0002591,Polyphagia ,多食,A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. ,校对中... +HP:0002592,Gastric ulcer ,胃溃疡,"An ulcer, that is, an erosion of an area of the gastric mucous membrane. ",校对中... +HP:0002593,Intestinal lymphangiectasia ,肠淋巴管扩张,"Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines. ",校对中... +HP:0002594,未找到信息,-,-,- +HP:0002595,Ileus ,肠梗阻,Acute obstruction of the intestines preventing passage of the contents of the intestines. ,校对中... +HP:0002597,Abnormality of the vasculature ,脉管系统异常,An abnormality of the vasculature. ,校对中... +HP:0002599,Head titubation ,点头,A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction. ,校对中... +HP:0002600,Hyporeflexia of lower limbs ,下肢反射减弱,"Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. ",校对中... +HP:0002601,Paresis of extensor muscles of the big toe ,拇趾伸肌麻痹, , +HP:0002604,Gastrointestinal telangiectasia ,胃肠道毛细血管扩张,Telangiectasia affecting the gastrointestinal tract. ,校对中... +HP:0002605,Hepatic necrosis ,肝坏死,The presence of cell death (necrosis) affecting the liver. ,校对中... +HP:0002607,Bowel incontinence ,大便失禁,Involuntary fecal soiling in adults and children who have usually already been toilet trained. ,校对中... +HP:0002608,Celiac disease ,乳糜泻,"Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurence of CD is seen as a feature of a number of other diseases. ",校对中... +HP:0002611,Cholestatic liver disease ,胆汁淤积性肝病, , +HP:0002612,Congenital hepatic fibrosis ,先天性肝纤维化,The presence of fibrosis of that part of the liver with congenital onset. ,校对中... +HP:0002613,Biliary cirrhosis ,胆汁性肝硬化,"Progressive destruction of the small-to-medium bile ducts of the intrahepatic biliary tree, which leads to progressive cholestasis and often end-stage liver disease. ",校对中... +HP:0002614,Hepatic periportal necrosis ,肝脏门脉周围坏死,A type of hepatic necrosis that is concentrated around the necrosis of hepatocytes localized around the intrahepatic branch of portal vein. ,校对中... +HP:0002615,Hypotension ,低血压,"Low Blood Pressure, vascular hypotension. ",校对中... +HP:0002616,Aortic root aneurysm ,主动脉根部瘤,An abnormal localized widening (dilatation) of the aortic root. ,校对中... +HP:0002617,Vascular dilatation ,血管扩张,"Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart. ",校对中... +HP:0002619,Varicose veins ,静脉曲张,Enlarged and tortuous veins. ,校对中... +HP:0002621,Atherosclerosis ,动脉粥样硬化,A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow. ,校对中... +HP:0002623,Overriding aorta ,主动脉骑跨,"An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle. ",校对中... +HP:0002624,Abnormal venous morphology ,静脉形态异常,An anomaly of vein. ,校对中... +HP:0002625,Deep venous thrombosis ,深静脉血栓形成,"Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. ",校对中... +HP:0002626,Venous varicosities of celiac and mesenteric vessels ,腹腔和肠系膜血管静脉曲张,"Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein. ",校对中... +HP:0002627,Right aortic arch with mirror image branching ,右位主动脉弓伴镜像分支,"The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery. ",校对中... +HP:0002629,Gastrointestinal arteriovenous malformation ,胃肠道动静脉畸形,An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the gastrointestinal tract. ,校对中... +HP:0002630,Fat malabsorption ,脂肪吸收障碍,Abnormality of the absorption of fat from the gastrointestinal tract. ,校对中... +HP:0002632,Low-to-normal blood pressure ,低至正常血压, , +HP:0002633,Vasculitis ,血管炎,Inflammation of blood vessel. ,校对中... +HP:0002634,Arteriosclerosis ,动脉硬化,Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity. ,校对中... +HP:0002635,Type IV atherosclerotic lesion ,IV型动脉粥样硬化病变,"In type IV atherosclerotic lesions a dense accumulation of extracellular lipid occupies an extensive but well-defined region of the intima. This type of extracellular lipid accumulation is known as the lipid core. A fibrous tissue increase is not a feature, and complications such as defects of the lesion surface and thrombosis are not present. The type IV lesion is also known as atheroma. Type IV is the first lesion considered advanced in this classification because of the severe intimal disorganization caused by the lipid core. The characteristic core appears to develop from an increase and the consequent confluence of the small isolated pools of extracellular lipid that characterize type III lesions. The increase in lipid is believed to result from continued insudation from the plasma. Type IV lesions, when they first appear in younger people, are found in the same locations as adaptive intimal thickenings of the eccentric type. Thus, atheroma is, at least initially, an eccentric lesion. ",校对中... +HP:0002637,Cerebral ischemia ,脑缺血, , +HP:0002638,Superficial thrombophlebitis ,浅表性血栓性静脉炎,Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein). ,校对中... +HP:0002639,Budd-Chiari syndrome ,Budd-Chiari综合征,"Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience. ",校对中... +HP:0002640,Hypertension associated with pheochromocytoma ,嗜铬细胞瘤高血压,A type of hypertension associated with pheochromocytoma. ,校对中... +HP:0002641,Peripheral thrombosis ,外周血栓形成, , +HP:0002642,Arteriovenous fistulas of celiac and mesenteric vessels ,腹腔及肠系膜血管动静脉瘘, , +HP:0002643,Neonatal respiratory distress ,新生儿呼吸窘迫,Respiratory difficulty as newborn. ,校对中... +HP:0002644,Abnormality of pelvic girdle bone morphology ,盆骨形态异常,"An abnormality of the bony pelvic girdle, which is a ring of bones connecting the vertebral column to the femurs. ",校对中... +HP:0002645,Wormian bones ,缝间骨,The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium. ,校对中... +HP:0002647,Aortic dissection ,主动脉夹层,Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta. ,校对中... +HP:0002648,Abnormality of calvarial morphology ,颅骨形态异常,"The presence of an abnormal shape of the calvaria (skullcap), that is, of that part of the skull that is made up of the superior portions of the frontal bone, occipital bone, and parietal bones and covers the cranial cavity that contains the brain. ",校对中... +HP:0002650,Scoliosis ,脊柱侧弯,The presence of an abnormal lateral curvature of the spine. ,校对中... +HP:0002651,Spondyloepimetaphyseal dysplasia ,脊椎干骺端发育不良, , +HP:0002652,Skeletal dysplasia ,骨骼发育不良,A general term describing features characterized by abnormal development of bones and connective tissues. ,校对中... +HP:0002653,Bone pain ,骨痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to bone. ",校对中... +HP:0002654,Multiple epiphyseal dysplasia ,多发性骨骺发育不良, , +HP:0002655,Spondyloepiphyseal dysplasia ,脊椎骨骺发育不良,A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses). ,校对中... +HP:0002656,Epiphyseal dysplasia ,骨骺发育不良, , +HP:0002657,Spondylometaphyseal dysplasia ,脊椎干骺端发育不良, , +HP:0002659,Increased susceptibility to fractures ,骨折易感性增加,An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. ,校对中... +HP:0002661,Painless fractures due to injury ,外伤性无痛骨折,"An increased tendency to fractures following trauma, with fractures occurring without pain. ",校对中... +HP:0002663,Delayed epiphyseal ossification ,骨骺骨化延迟, , +HP:0002664,Neoplasm ,肿瘤,An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumour). ,校对中... +HP:0002665,Lymphoma ,淋巴瘤,A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. ,校对中... +HP:0002666,Pheochromocytoma ,嗜铬细胞瘤,"Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. ",校对中... +HP:0002667,Nephroblastoma ,肾母细胞瘤,"The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. ",校对中... +HP:0002668,Paraganglioma ,副神经节瘤,A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation. ,校对中... +HP:0002669,Osteosarcoma ,骨肉瘤,"A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor. ",校对中... +HP:0002671,Basal cell carcinoma ,基底细胞癌,The presence of a basal cell carcinoma of the skin. ,校对中... +HP:0002672,Gastrointestinal carcinoma ,胃肠道癌, , +HP:0002673,Coxa valga ,髋外翻,Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults). ,校对中... +HP:0002676,Cloverleaf skull ,分叶状颅,Trilobar skull configuration when viewed from the front or behind. ,校对中... +HP:0002677,Small foramen magnum ,枕大孔狭窄,An abnormal narrowing of the foramen magnum. ,校对中... +HP:0002678,Skull asymmetry ,头骨不对称, , +HP:0002679,Abnormal sella turcica morphology ,蝶鞍形态异常,"Abnormality of the sella turcica, a saddle-shaped depression in the sphenoid bone at the base of the human skull. ",校对中... +HP:0002680,J-shaped sella turcica ,J形蝶鞍,"A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull. ",校对中... +HP:0002681,Deformed sella turcica ,蝶鞍畸形, , +HP:0002682,Broad skull ,颅骨增宽,Increased width of the skull. ,校对中... +HP:0002684,Thickened calvaria ,颅骨过厚,The presence of an abnormally thick calvaria. ,校对中... +HP:0002686,Prenatal maternal abnormality ,产前母体异常, , +HP:0002688,Absent frontal sinuses ,额窦缺如,Aplasia of frontal sinus. ,校对中... +HP:0002689,Absent paranasal sinuses ,副鼻窦缺如,Aplasia of the paranasal sinuses. ,校对中... +HP:0002690,Large sella turcica ,大蝶鞍,An abnormal enlargement of the sella turcica. ,校对中... +HP:0002691,Platybasia ,颅底扁平症,"A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base. ",校对中... +HP:0002692,Hypoplastic facial bones ,面部骨骼发育不全, , +HP:0002693,Abnormality of the skull base ,颅底异常,"An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components. ",校对中... +HP:0002694,Sclerosis of skull base ,颅底硬化,Increased bone density of the skull base without significant changes in bony contour. ,校对中... +HP:0002695,"Symmetrical, oval parietal bone defects ",顶骨对称性椭圆形缺损, , +HP:0002696,Abnormal parietal bone morphology ,顶骨形态异常,Any abnormality of the parietal bone of the skull. ,校对中... +HP:0002697,Parietal foramina ,顶骨孔,The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide. ,校对中... +HP:0002700,Large foramen magnum ,大枕骨大孔,An abnormal increase in the size of the foramen magnum. ,校对中... +HP:0002705,"High, narrow palate ",腭高而窄,The presence of a high and narrow palate. ,校对中... +HP:0002707,Palate telangiectasia ,腭毛细血管扩张,The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate. ,校对中... +HP:0002708,Prominent median palatal raphe ,腭中缝突起,"Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate. ",校对中... +HP:0002710,Commissural lip pit ,口角小窝,A depression located at an oral commissure. ,校对中... +HP:0002711,Exaggerated median tongue furrow ,夸张的正中舌沟,Increased depth of the median tongue furrow. ,校对中... +HP:0002714,Downturned corners of mouth ,嘴角下弯,A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure. ,校对中... +HP:0002715,Abnormality of the immune system ,免疫系统异常,An abnormality of the immune system. ,校对中... +HP:0002716,Lymphadenopathy ,淋巴结肿大,Enlargment (swelling) of a lymph node. ,校对中... +HP:0002718,未找到信息,-,-,- +HP:0002719,Recurrent infections ,反复感染,Increased susceptibility to infections. ,校对中... +HP:0002720,Decreased circulating IgA level ,循环IgA下降,Decreased levels of immunoglobulin A (IgA). ,校对中... +HP:0002721,Immunodeficiency ,免疫缺陷,"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. ",校对中... +HP:0002722,Recurrent abscess formation ,反复脓肿形成,"An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses. ",校对中... +HP:0002723,Absence of bactericidal oxidative respiratory burst in phagocytes ,吞噬细胞中杀菌性氧化呼吸爆发的缺失,"An absence of the phase of elevated metabolic activity, during which oxygen consumption increases, that occurs in neutrophils, monocytes, and macrophages shortly after phagocytosing material. An enhanced uptake of oxygen leads to the production, by an NADH dependent system, of hydrogen peroxide (H2O2), superoxide anions and hydroxyl radicals, which play a part in microbiocidal activity. ",校对中... +HP:0002724,Recurrent Aspergillus infections ,反复曲霉菌感染,"An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections. ",校对中... +HP:0002725,Systemic lupus erythematosus ,系统性红斑狼疮,"A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. ",校对中... +HP:0002726,Recurrent Staphylococcus aureus infections ,反复金黄色葡萄球菌感染,"Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection. ",校对中... +HP:0002728,Chronic mucocutaneous candidiasis ,慢性皮肤粘膜念珠菌病,"Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. ",校对中... +HP:0002729,Follicular hyperplasia ,淋巴滤泡增生,Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers. ,校对中... +HP:0002730,Chronic noninfectious lymphadenopathy ,慢性非感染性淋巴结肿大,A chronic form of lymphadenopathy that is not related to infection. ,校对中... +HP:0002731,Decreased lymphocyte apoptosis ,淋巴细胞凋亡减少,A reduction in the rate of apoptosis in lymphocytes. ,校对中... +HP:0002732,Lymph node hypoplasia ,淋巴结发育不全,Underdevelopment of the lymph nodes. ,校对中... +HP:0002733,Abnormality of the lymph nodes ,淋巴结异常,A lymph node abnormality. ,校对中... +HP:0002737,Thick skull base ,厚颅底, , +HP:0002738,Hypoplastic frontal sinuses ,额窦发育不全,Underdevelopment of frontal sinus. ,校对中... +HP:0002740,Recurrent E. coli infections ,反复大肠杆菌感染,"Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent. ",校对中... +HP:0002741,Recurrent Serratia marcescens infections ,反复粘质沙雷氏菌感染,"Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection. ",校对中... +HP:0002742,Recurrent Klebsiella infections ,反复克雷伯杆菌感染,"Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection. ",校对中... +HP:0002743,Recurrent enteroviral infections ,反复肠病毒感染,"Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection. ",校对中... +HP:0002744,Bilateral cleft lip and palate ,双侧唇腭裂,Cleft lip and cleft palate affecting both sides of the face. ,校对中... +HP:0002745,Oral leukoplakia ,口腔白斑,A thickened white patch on the oral mucosa that cannot be rubbed off. ,校对中... +HP:0002747,Respiratory insufficiency due to muscle weakness ,肌肉无力导致的呼吸功能不全, , +HP:0002748,Rickets ,佝偻病,"Rickets is divided into two major categories including calcipenic and phosphopenic. Hypophosphatemia is described as a common manifestation of both categories. Hypophosphatemic rickets is the most common type of rickets that is characterized by low levels of serum phosphate, resistance to ultraviolet radiation or vitamin D intake. There are several issues involved in hypophosphatemic rickets such as calcium, vitamin D, phosphorus deficiencies. Moreover, other disorder can be associated with its occurrence such as absorption defects due to pancreatic, intestinal, gastric, and renal disorders and hepatobiliary disease. Symptoms are usually seen in childhood and can be varied in severity. Severe forms may be linked to bowing of the legs, poor bone growth, and short stature as well as joint and bone pain. Hypophosphatemic rickets are associated with renal excretion of phosphate, hypophosphatemia, and mineral defects in bones. The familial type of the disease is the most common type of rickets. ",校对中... +HP:0002749,Osteomalacia ,软骨病。,Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. ,校对中... +HP:0002750,Delayed skeletal maturation ,骨成熟延迟,A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. ,校对中... +HP:0002751,Kyphoscoliosis ,脊柱后侧凸,An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. ,校对中... +HP:0002752,Sparse bone trabeculae ,骨小梁稀疏, , +HP:0002753,Thin bony cortex ,骨皮质薄,Abnormal thinning of the cortical region of bones. ,校对中... +HP:0002754,Osteomyelitis ,骨髓炎,Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism. ,校对中... +HP:0002756,Pathologic fracture ,病理性骨折,"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone. ",校对中... +HP:0002757,Recurrent fractures ,复发性骨折,The repeated occurrence of bone fractures (implying an abnormally increased tendency for fracture). ,校对中... +HP:0002758,Osteoarthritis ,骨关节炎,"Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity. ",校对中... +HP:0002761,Generalized joint laxity ,周身关节松弛,Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body. ,校对中... +HP:0002762,Multiple exostoses ,多发性外生骨疣,"Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. ",校对中... +HP:0002763,Abnormal cartilage morphology ,软骨形态异常,Any morphological abnormality of cartilage. ,校对中... +HP:0002764,Stippled chondral calcification ,软骨点状钙化,"Punctate (speckled, dot-like) deposition of calcium of calcium salts in the articular cartilage (cartilage located in joints). ",校对中... +HP:0002766,Relatively short spine ,相对性短脊柱, , +HP:0002777,Tracheal stenosis ,气管狭窄, , +HP:0002778,Abnormal trachea morphology ,气管形态异常,A structural anomaly of the trachea. ,校对中... +HP:0002779,Tracheomalacia ,气管软化, , +HP:0002780,Bronchomalacia ,支气管软化,Weakness or softness of the cartilage in the walls of the bronchial tubes. ,校对中... +HP:0002781,Upper airway obstruction ,上气道阻塞,Increased resistance to the passage of air in the upper airway. ,校对中... +HP:0002783,Recurrent lower respiratory tract infections ,反复下呼吸道感染,An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. ,校对中... +HP:0002786,Tracheobronchomalacia ,气管支气管软化,"Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways. ",校对中... +HP:0002787,Tracheal calcification ,气管钙化,Calcification (abnormal deposits of calcium) in the tracheal tissues. ,校对中... +HP:0002788,Recurrent upper respiratory tract infections ,复发性上呼吸道感染,"An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis). ",校对中... +HP:0002789,Tachypnea ,呼吸过速,Very rapid breathing. ,校对中... +HP:0002790,Neonatal breathing dysregulation ,新生儿呼吸调节异常, , +HP:0002791,Hypoventilation ,通气不足,"A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide). ",校对中... +HP:0002792,Reduced vital capacity ,肺活量减少,"An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung. ",校对中... +HP:0002793,Abnormal pattern of respiration ,呼吸模式异常,An anomaly of the rhythm or depth of breathing. ,校对中... +HP:0002795,Abnormal respiratory system physiology ,呼吸系统生理异常, , +HP:0002797,Osteolysis ,骨质溶解,Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium. ,校对中... +HP:0002803,Congenital contracture ,先天性挛缩,One or more flexion contractures (a bent joint that cannot be straightened actively or passively) that are present at birth. ,校对中... +HP:0002804,Arthrogryposis multiplex congenita ,先天性多发性关节挛缩,Multiple congenital contractures in different body areas. ,校对中... +HP:0002805,Accelerated bone age after puberty ,青春期后骨龄加速, , +HP:0002808,Kyphosis ,脊柱后凸畸形（驼背）,Exaggerated anterior convexity of the thoracic vertebral column. ,校对中... +HP:0002810,Dumbbell-shaped metaphyses ,哑铃状干骺端, , +HP:0002812,Coxa vara ,髋内翻,Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees. ,校对中... +HP:0002813,Abnormality of limb bone morphology ,四肢骨骼形态异常,Any abnormality of bones of the arms or legs. ,校对中... +HP:0002814,Abnormality of the lower limb ,下肢异常,An abnormality of the leg. ,校对中... +HP:0002815,Abnormality of the knee ,膝关节异常,An abnormality of the knee joint or surrounding structures. ,校对中... +HP:0002816,Genu recurvatum ,膝反屈,"An abnormally increased extension of the knee joint, so that the knee can bend backwards. ",校对中... +HP:0002817,Abnormality of the upper limb ,上肢异常,An abnormality of the arm. ,校对中... +HP:0002818,Abnormality of the radius ,桡骨异常,An abnormality of the radius. ,校对中... +HP:0002821,Neuropathic arthropathy ,神经性关节病, , +HP:0002822,Hyperplasia of the femoral trochanters ,股骨粗隆增生, , +HP:0002823,Abnormality of femur morphology ,股骨形态异常,Any anomaly of the structure of the femur. ,校对中... +HP:0002825,Caudal appendage ,尾部附属物,The presence of a tail-like skin appendage located adjacent to the sacrum. ,校对中... +HP:0002826,Halberd-shaped pelvis ,戟形骨盆,"An anomalous radiographic appearance of the developing pelvis, in which the greater ischiadic noth (incisura ischiadica major) is shallow and the pelvis takes on the appearance said to resemble a halberd (a weapon especially of the 15th and 16th centuries consisting typically of a battle-ax and pike mounted on a handle). ",校对中... +HP:0002827,Hip dislocation ,髋关节脱位,Displacement of the femur from its normal location in the hip joint. ,校对中... +HP:0002828,Multiple joint contractures ,多发性关节挛缩, , +HP:0002829,Arthralgia ,关节疼痛,Joint pain. ,校对中... +HP:0002831,Long coccyx ,长尾骨, , +HP:0002832,Calcific stippling ,钙化点,"An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs). ",校对中... +HP:0002833,Cystic angiomatosis of bone ,骨囊性血管瘤病,"Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping. ",校对中... +HP:0002834,Flared femoral metaphysis ,喇叭状股骨干骺端, , +HP:0002835,Aspiration ,误吸,Inspiration of a foreign object into the airway. ,校对中... +HP:0002836,Bladder exstrophy ,膀胱外翻,Eversion of the posterior bladder wall through the congenitally absent lower anterior abdominal wall and anterior bladder wall. ,校对中... +HP:0002837,Recurrent bronchitis ,复发性支气管炎,An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. ,校对中... +HP:0002839,Urinary bladder sphincter dysfunction ,膀胱括约肌功能障碍,Abnormal function of a sphincter of the urinary bladder. ,校对中... +HP:0002840,Lymphadenitis ,淋巴结炎,Inflammation of a lymph node. ,校对中... +HP:0002841,Recurrent fungal infections ,反复真菌感染,"Increased susceptibility to fungal infections, as manifested by multiple episodes of fungal infection. ",校对中... +HP:0002842,Recurrent Burkholderia cepacia infections ,反复伯克霍尔德菌感染,"Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent. ",校对中... +HP:0002843,Abnormal T cell morphology ,T细胞形态异常,An abnormality of T cells. ,校对中... +HP:0002846,Abnormal B cell morphology ,B细胞形态异常,A structural abnormality of B cells. ,校对中... +HP:0002847,Impaired memory B cell generation ,记忆B细胞生成障碍,"Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge. ",校对中... +HP:0002848,Decreased specific anti-polysaccharide antibody level ,特异性抗多糖抗体水平降低,The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides. ,校对中... +HP:0002849,Absence of lymph node germinal center ,淋巴结生发中心缺失,"Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses. ",校对中... +HP:0002850,Decreased circulating total IgM ,循环总IgM下降,An abnormally decreased level of immunoglobulin M (IgM) in blood. ,校对中... +HP:0002851,"Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells ",CD4和CD8双阴性的α-β 调节性 T 细胞比例增高,"An abnormally increased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. ",校对中... +HP:0002853,Increased proportion of HLA DR+ T cells ,HLA-DR阳性T细胞比例多,"An elevated proportion of T cells that express human leukocyte antigen (HLA)-DR. HLA-DR is an MHC class II cell surface receptor that presents antigens (peptides of at least 9 amino acids), thereby constituting a ligand for the T-cell receptor. HLA-DR can be upregulated in response to immune stimulation. ",校对中... +HP:0002857,Genu valgum ,膝外翻,"The legs angle inward, such that the knees are close together and the ankles far apart. ",校对中... +HP:0002858,Meningioma ,脑膜瘤,"The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater. ",校对中... +HP:0002859,Rhabdomyosarcoma ,横纹肌肉瘤, , +HP:0002860,Squamous cell carcinoma ,鳞状细胞癌,The presence of squamous cell carcinoma of the skin. ,校对中... +HP:0002861,Melanoma ,黑色素瘤,"The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea). ",校对中... +HP:0002862,Bladder carcinoma ,膀胱癌,The presence of a carcinoma of the urinary bladder. ,校对中... +HP:0002863,Myelodysplasia ,骨髓增生异常,"Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia. ",校对中... +HP:0002864,Paraganglioma of head and neck ,头部和颈部的副神经节瘤, , +HP:0002865,Medullary thyroid carcinoma ,甲状腺髓样癌,The presence of a medullary carcinoma of the thyroid gland. ,校对中... +HP:0002866,Hypoplastic iliac wing ,髂翼发育不全,Underdevelopment of the ilium ala. ,校对中... +HP:0002867,Abnormal ilium morphology ,髂骨形态异常,"An abnormality of the ilium, the largest and uppermost bone of the pelvis. ",校对中... +HP:0002868,Narrow iliac wing ,髂骨翼狭窄,Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). ,校对中... +HP:0002869,Flared iliac wing ,喇叭状髂骨翼,"Widening of the ilium ala, that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing. ",校对中... +HP:0002870,Obstructive sleep apnea ,阻塞性睡眠呼吸暂停,A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow. ,校对中... +HP:0002871,Central apnea ,中枢性呼吸暂停,Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow. ,校对中... +HP:0002872,"Apneic episodes precipitated by illness, fatigue, stress ",因疾病、疲劳、紧张而导致的呼吸暂停发作,"Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress. ",校对中... +HP:0002875,Exertional dyspnea ,劳力性呼吸困难,Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. ,校对中... +HP:0002876,Episodic tachypnea ,阵发性呼吸急促,Episodes of very rapid breathing. ,校对中... +HP:0002877,Nocturnal hypoventilation ,夜间低通气, , +HP:0002878,Respiratory failure ,呼吸衰竭,A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. ,校对中... +HP:0002879,Anisospondyly ,椎体大小不等,Abnormally increased variability of the size of the vertebral bodies. ,校对中... +HP:0002882,Sudden episodic apnea ,突然发作性呼吸暂停,"Recurrent bouts of sudden, severe apnea that may be life-threatening. ",校对中... +HP:0002883,Hyperventilation ,过度通气,"Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide. ",校对中... +HP:0002884,Hepatoblastoma ,肝母细胞瘤,A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts. ,校对中... +HP:0002885,Medulloblastoma ,髓母细胞瘤,"A rapidly growing embryonic tumor arising in the posterior part of the cerebellar vermis and neuroepithelial roof of the fourth ventricle in children. More rarely, medulloblastoma arises in the cerebellum in adults. ",校对中... +HP:0002886,Vagal paraganglioma ,迷走神经副神经节瘤,"A tumor that develops in the retrostyloid compartment of the parapharyngeal space, arising from an island of paraganglion tissue derived from the neural crest that is located on the vagus nerve. ",校对中... +HP:0002888,Ependymoma ,室管膜瘤,The presence of an ependymoma of the central nervous system. ,校对中... +HP:0002890,Thyroid carcinoma ,甲状腺癌,The presence of a carcinoma of the thyroid gland. ,校对中... +HP:0002891,Uterine leiomyosarcoma ,子宫平滑肌肉瘤,The presence of a leiomyosarcoma of the uterus. ,校对中... +HP:0002893,Pituitary adenoma ,垂体腺瘤,A benign epithelial tumor derived from intrinsic cells of the adenohypophysis. ,校对中... +HP:0002894,Neoplasm of the pancreas ,胰腺肿瘤,A tumor (abnormal growth of tissue) of the pancreas. ,校对中... +HP:0002895,Papillary thyroid carcinoma ,甲状腺乳头状癌,The presence of a papillary adenocarcinoma of the thyroid gland. ,校对中... +HP:0002896,Neoplasm of the liver ,肝脏肿瘤,A tumor (abnormal growth of tissue) of the liver. ,校对中... +HP:0002897,Parathyroid adenoma ,甲状旁腺腺瘤,A benign tumor of the parathyroid gland that can cause hyperparathyroidism. ,校对中... +HP:0002898,Embryonal neoplasm ,胚胎性肿瘤, , +HP:0002900,Hypokalemia ,低钾血症,An abnormally decreased potassium concentration in the blood. ,校对中... +HP:0002901,Hypocalcemia ,低钙血症,An abnormally decreased calcium concentration in the blood. ,校对中... +HP:0002902,Hyponatremia ,低钠血症,An abnormally decreased sodium concentration in the blood. ,校对中... +HP:0002904,Hyperbilirubinemia ,高胆红素血症,An increased amount of bilirubin in the blood. ,校对中... +HP:0002905,Hyperphosphatemia ,高磷血症,An abnormally increased phosphate concentration in the blood. ,校对中... +HP:0002907,Microscopic hematuria ,镜下血尿症,Microscopic hematuria detected by dipstick or microscopic examination of the urine. ,校对中... +HP:0002908,Conjugated hyperbilirubinemia ,高结合胆红素血症, , +HP:0002909,Generalized aminoaciduria ,全谱氨基酸尿,An increased concentration of all types of amino acid in the urine. ,校对中... +HP:0002910,Elevated hepatic transaminase ,肝脏转氨酶升高,Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. ,校对中... +HP:0002912,Methylmalonic acidemia ,甲基丙二酸血症,Increased concentration of methylmalonic acid in the blood. ,校对中... +HP:0002913,Myoglobinuria ,肌红蛋白尿,Presence of myoglobin in the urine. ,校对中... +HP:0002914,Hyperchloriduria ,高氯尿症,An increased concentration of chloride in the urine. ,校对中... +HP:0002916,Abnormality of chromosome segregation ,染色体分离异常,An abnormality of chromosome segregation. ,校对中... +HP:0002917,Hypomagnesemia ,低镁血症,An abnormally decreased magnesium concentration in the blood. ,校对中... +HP:0002918,Hypermagnesemia ,高镁血症,An abnormally increased magnesium concentration in the blood. ,校对中... +HP:0002919,Ketonuria ,酮尿,"High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state. ",校对中... +HP:0002920,Decreased circulating ACTH level ,血促肾上腺皮质激素水平降低,"An abnormal reduction in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. ",校对中... +HP:0002921,Abnormality of the cerebrospinal fluid ,脑脊液异常,An abnormality of the cerebrospinal fluid (CSF). ,校对中... +HP:0002922,Increased CSF protein ,脑脊液蛋白升高,Increased concentration of protein in the cerebrospinal fluid. ,校对中... +HP:0002923,Rheumatoid factor positive ,类风湿因子阳性,The presence in the serum of an autoantibody directed against the Fc portion of IgG. ,校对中... +HP:0002925,Elevated circulating thyroid-stimulating hormone concentration ,血液促甲状腺激素增多,Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. ,校对中... +HP:0002926,Abnormality of thyroid physiology ,甲状腺生理功能异常,An abnormal functionality of the thyroid gland. ,校对中... +HP:0002927,Histidinuria ,组氨酸尿症,An increased concentration of histidine in the urine. ,校对中... +HP:0002928,Decreased activity of the pyruvate dehydrogenase complex ,丙酮酸脱氢酶（PDH）复合物活性降低, , +HP:0002929,Leydig cell insensitivity to gonadotropin ,睾丸间质细胞(莱氏细胞）对促性腺激素不敏感, , +HP:0002930,Impaired sensitivity to thyroid hormone ,甲状腺激素受体缺陷,Reduced sensitivity of end organs to thyroid hormone characterized by elevated serum levels of free thyroid hormone with nonsuppressed thyroid stimulating hormone. ,校对中... +HP:0002932,Aldehyde oxidase deficiency ,醛氧化酶缺乏症,A reduction in aldehyde oxidase level. ,校对中... +HP:0002933,Ventral hernia ,腹疝,Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abdominal wall. ,校对中... +HP:0002936,Distal sensory impairment ,远端感觉障碍,An abnormal reduction in sensation in the distal portions of the extremities. ,校对中... +HP:0002937,Hemivertebrae ,半椎体,Absence of one half of the vertebral body. ,校对中... +HP:0002938,Lumbar hyperlordosis ,腰椎前凸过度,An abnormal accentuation of the inward curvature of the spine in the lumbar region. ,校对中... +HP:0002942,Thoracic kyphosis ,胸椎后凸,"Over curvature of the thoracic region, leading to a round back or if sever to a hump. ",校对中... +HP:0002943,Thoracic scoliosis ,胸部脊柱侧弯, , +HP:0002944,Thoracolumbar scoliosis ,胸腰脊柱侧弯, , +HP:0002945,Intervertebral space narrowing ,椎间隙变窄,Decreased height of the intervertebral disk. ,校对中... +HP:0002946,Supernumerary vertebrae ,额外椎骨, , +HP:0002947,Cervical kyphosis ,颈椎后凸畸形,"Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance. ",校对中... +HP:0002948,Vertebral fusion ,椎体融合,A developmental defect leading to the union of two adjacent vertebrae. ,校对中... +HP:0002949,Fused cervical vertebrae ,颈椎融合,A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another. ,校对中... +HP:0002951,Partial absence of cerebellar vermis ,小脑蚓部部分缺如,Congenital absence of a part of the vermis of cerebellum. ,校对中... +HP:0002953,Vertebral compression fracture ,椎体压缩性骨折, , +HP:0002955,Granulomatosis ,肉芽肿病,"A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity. ",校对中... +HP:0002958,Immune dysregulation ,免疫失调,"Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. ",校对中... +HP:0002959,Impaired Ig class switch recombination ,免疫球蛋白类别转换重组障碍,"An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE. ",校对中... +HP:0002960,Autoimmunity ,自身免疫,The occurrence of an immune reaction against the organism's own cells or tissues. ,校对中... +HP:0002961,Dysgammaglobulinemia ,异常丙种球蛋白血症,"Selective deficiency of one or more, but not all, classes of immunoglobulins. ",校对中... +HP:0002963,Abnormal delayed hypersensitivity skin test ,迟发型皮肤超敏试验异常,Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter. ,校对中... +HP:0002965,Cutaneous anergy ,皮肤失能,Inability to react to a delayed hypersensitivity skin test. ,校对中... +HP:0002967,Cubitus valgus ,肘外翻,Abnormal positioning in which the elbows are turned out. ,校对中... +HP:0002970,Genu varum ,膝内翻,A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together. ,校对中... +HP:0002971,Absent microvilli on the surface of peripheral blood lymphocytes ,外周血淋巴细胞表面微绒毛缺失,"Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes. ",校对中... +HP:0002972,Reduced delayed hypersensitivity ,迟发型超敏反应降低,Decreased ability to react to a delayed hypersensitivity skin test. ,校对中... +HP:0002973,Abnormality of the forearm ,前臂异常,An abnormality of the lower arm. ,校对中... +HP:0002974,Radioulnar synostosis ,桡尺骨融合,An abnormal osseous union (fusion) between the radius and the ulna. ,校对中... +HP:0002977,Aplasia/Hypoplasia involving the central nervous system ,中枢神经系统发育不全或不发育,Absence or underdevelopment of tissue in the central nervous system. ,校对中... +HP:0002979,Bowing of the legs ,腿弯曲,A bending or abnormal curvature affecting a long bone of the leg. ,校对中... +HP:0002980,Femoral bowing ,股骨弯曲,Bowing (abnormal curvature) of the femur. ,校对中... +HP:0002982,Tibial bowing ,胫骨弯曲,A bending or abnormal curvature of the tibia. ,校对中... +HP:0002983,Micromelia ,短肢,The presence of abnormally small extremities. ,校对中... +HP:0002984,Hypoplasia of the radius ,桡骨发育不全,Underdevelopment of the radius. ,校对中... +HP:0002986,Radial bowing ,桡骨弯曲,A bending or abnormal curvature of the radius. ,校对中... +HP:0002987,Elbow flexion contracture ,肘屈曲挛缩,"A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow. ",校对中... +HP:0002990,Fibular aplasia ,腓骨发育不良,Absence of the fibula. ,校对中... +HP:0002991,Abnormality of fibula morphology ,腓骨形态异常,"An anomaly of the calf bone (fibula), one of the two bones of the calf. ",校对中... +HP:0002992,Abnormality of tibia morphology ,胫骨形态异常,Abnormality of the tibia (shinbone). ,校对中... +HP:0002996,Limited elbow movement ,肘运动受限, , +HP:0002997,Abnormality of the ulna ,尺骨异常,An abnormality of the ulna bone of the forearm. ,校对中... +HP:0002999,Patellar dislocation ,髌骨脱位,The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. ,校对中... +HP:0003001,Glomus jugular tumor ,颈静脉球瘤, , +HP:0003002,Breast carcinoma ,乳腺癌,The presence of a carcinoma of the breast. ,校对中... +HP:0003003,Colon cancer ,结肠癌, , +HP:0003005,Ganglioneuroma ,神经节瘤,"A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells. ",校对中... +HP:0003006,Neuroblastoma ,神经母细胞瘤,"Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum. ",校对中... +HP:0003010,Prolonged bleeding time ,出血时间延长,Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding. ,校对中... +HP:0003011,Abnormality of the musculature ,肌肉组织异常,"Abnormality originating in one or more muscles, i.e., of the set of muscles of body. ",校对中... +HP:0003013,Bulging epiphyses ,骨骺凸出,A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant). ,校对中... +HP:0003015,Flared metaphysis ,喇叭状干骺端,"The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. ",校对中... +HP:0003016,Metaphyseal widening ,干骺端增宽,Abnormal widening of the metaphyseal regions of long bones. ,校对中... +HP:0003019,Abnormality of the wrist ,手腕异常,"Abnormality of the wrist, the structure connecting the hand and the forearm. ",校对中... +HP:0003020,Enlargement of the wrists ,手腕膨大, , +HP:0003021,Metaphyseal cupping ,干骺端内陷,Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. ,校对中... +HP:0003022,Hypoplasia of the ulna ,尺骨发育不良,Underdevelopment of the ulna. ,校对中... +HP:0003023,Bowing of limbs due to multiple fractures ,多发骨折致肢体弯曲,Curvature of the shafts of the long bones due to multiple fractures. ,校对中... +HP:0003025,Metaphyseal irregularity ,干骺端不规则,Irregularity of the normally smooth surface of the metaphyses. ,校对中... +HP:0003026,Short long bone ,长骨短,One or more abnormally short long bone. ,校对中... +HP:0003027,Mesomelia ,肢体中部不规则缩短,Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments. ,校对中... +HP:0003028,Abnormality of the ankles ,脚踝异常, , +HP:0003029,Enlargement of the ankles ,脚踝膨大, , +HP:0003031,Ulnar bowing ,尺骨弯曲,Bending of the diaphysis (shaft) of the ulna. ,校对中... +HP:0003034,Diaphyseal sclerosis ,骨干硬化症,An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. ,校对中... +HP:0003037,Enlarged joints ,关节膨大,Increase in size of one or more joints. ,校对中... +HP:0003038,Fibular hypoplasia ,腓骨发育不良,Underdevelopment of the fibula. ,校对中... +HP:0003040,Arthropathy ,关节病, , +HP:0003041,Humeroradial synostosis ,肱桡骨性融合,An abnormal osseous union (fusion) between the radius and the humerus. ,校对中... +HP:0003042,Elbow dislocation ,肘关节脱位,"Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet. ",校对中... +HP:0003043,Abnormal shoulder morphology ,肩部形态异常,"An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula. ",校对中... +HP:0003044,Shoulder flexion contracture ,肩关节屈曲挛缩,"Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. ",校对中... +HP:0003045,Abnormal patella morphology ,髌骨形态异常,Abnormality of the patella (knee cap). ,校对中... +HP:0003048,Radial head subluxation ,桡骨头半脱位,Partial dislocation of the head of the radius. ,校对中... +HP:0003049,Ulnar deviation of the wrist ,手腕向尺侧偏斜, , +HP:0003051,Enlarged metaphyses ,干骺端膨大,Abnormal increase in size of one or more metaphyses. ,校对中... +HP:0003053,Epiphyseal deformities of tubular bones ,管状骨骨骺变形, , +HP:0003057,Tetraamelia ,四肢缺如,Amelia of all four limbs. ,校对中... +HP:0003059,Abnormality of the radioulnar joints ,桡尺关节异常, , +HP:0003063,Abnormality of the humerus ,肱骨异常,"An abnormality of the humerus (i.e., upper arm bone). ",校对中... +HP:0003065,Patellar hypoplasia ,髌骨发育不全,Underdevelopment of the patella. ,校对中... +HP:0003066,Limited knee extension ,伸膝受限,Reduced ability to extend (straighten) the knee joint. ,校对中... +HP:0003067,Madelung deformity ,马德隆畸形,"An anomaly related to partial closure, or failure of development of the ulnar side of the distal radial growth plate, which results in an arrest of epiphyseal growth of the medial and volar portions of the distal radius. This leads to shortening of the radius and relative overgrowth of the ulna. ",校对中... +HP:0003068,Madelung-like forearm deformities ,马德隆样前臂畸形, , +HP:0003070,Elbow ankylosis ,肘运动受限, , +HP:0003071,Flattened epiphysis ,扁平骨骺,Abnormal flatness (decreased height) of epiphyses. ,校对中... +HP:0003072,Hypercalcemia ,高钙血症,An abnormally increased calcium concentration in the blood. ,校对中... +HP:0003073,Hypoalbuminemia ,低蛋白血症,Reduction in the concentration of albumin in the blood. ,校对中... +HP:0003074,Hyperglycemia ,高血糖,An increased concentration of glucose in the blood. ,校对中... +HP:0003075,Hypoproteinemia ,低蛋白血症,A decreased concentration of protein in the blood. ,校对中... +HP:0003076,Glycosuria ,糖尿,An increased concentration of glucose in the urine. ,校对中... +HP:0003077,Hyperlipidemia ,高脂血症,An elevated lipid concentration in the blood. ,校对中... +HP:0003079,Defective DNA repair after ultraviolet radiation damage ,紫外线辐射后DNA损伤修复缺陷, , +HP:0003080,Hydroxyprolinuria ,羟脯氨酸尿症,An increased concentration of 4-hydroxy-L-proline in the urine. ,校对中... +HP:0003081,Increased urinary potassium ,尿钾增加,An increased concentration of potassium(1+) in the urine. ,校对中... +HP:0003083,Dislocated radial head ,桡骨头脱位,A dislocation of the head of the radius from its socket in the elbow joint. ,校对中... +HP:0003084,Fractures of the long bones ,长骨骨折,"An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula, humerus, radius, and ulna). ",校对中... +HP:0003085,Long fibula ,长腓骨,Disproportionately long fibulae. ,校对中... +HP:0003086,Acromesomelia ,肢端发育不良,Small hands and feet. ,校对中... +HP:0003088,Premature osteoarthritis ,早发性关节炎, , +HP:0003089,Hamstring contractures ,腘绳肌挛缩, , +HP:0003090,Hypoplasia of the capital femoral epiphysis ,股骨近端骨骺发育不全,Underdevelopment of the proximal epiphysis of the femur. ,校对中... +HP:0003091,Trophic limb changes ,营养性肢体变化,Trophic changes occurring in a limb. ,校对中... +HP:0003093,Limited hip extension ,髋关节伸展受限,"Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward. ",校对中... +HP:0003095,Septic arthritis ,化脓性关节炎, , +HP:0003097,Short femur ,短股骨,An abnormal shortening of the femur. ,校对中... +HP:0003099,Fibular overgrowth ,腓骨过度生长,Relatively increased growth of the fibula compared to that of the tibia. ,校对中... +HP:0003100,Slender long bone ,长骨修长,Reduced diameter of a long bone. ,校对中... +HP:0003102,Increased carrying angle ,前臂外展偏角增加,"An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm. ",校对中... +HP:0003103,Abnormal cortical bone morphology ,皮质骨形态异常,"An abnormality of compact bone (also known as cortical bone), which forms the dense surface of bones. ",校对中... +HP:0003105,Protuberances at ends of long bones ,长骨末端突起,"The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones. ",校对中... +HP:0003106,Subperiosteal bone resorption ,骨膜下骨质吸收,Loss of bone mass occurring beneath the periosteum (the periosteum is the connective-tissue membrane that surrounds all bones except at the articular surfaces). This process may create a serrated and lace-like appearance in periosteal cortical bone. ,校对中... +HP:0003107,Abnormal circulating cholesterol concentration ,胆固醇代谢异常,Any deviation from the normal concentration of cholesterol in the blood circulation. ,校对中... +HP:0003108,Hyperglycinuria ,高甘氨酸尿症,An increased concentration of glycine in the urine. ,校对中... +HP:0003109,Hyperphosphaturia ,高磷酸盐尿症,An increased excretion of phosphates in the urine. ,校对中... +HP:0003110,Abnormality of urine homeostasis ,尿稳态平衡异常,An abnormality of the composition of urine or the levels of its components. ,校对中... +HP:0003111,Abnormal blood ion concentration ,离子稳态平衡异常,Abnormality of the homeostasis (concentration) of a monoatomic ion. ,校对中... +HP:0003113,Hypochloremia ,低氯血症,An abnormally decreased chloride concentration in the blood. ,校对中... +HP:0003115,Abnormal EKG ,异常心电图,Abnormal rhythm of the heart. ,校对中... +HP:0003116,Abnormal echocardiogram ,异常超声心动图异常,An abnormality detectable by sonography of the heart (echocardiography). ,校对中... +HP:0003117,Abnormal circulating hormone concentration ,血液激素水平异常,An abnormal concentration of a hormone in the blood. ,校对中... +HP:0003118,Increased circulating cortisol level ,血皮质醇水平增加,"Overproduction of the hormone of cortisol by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features. ",校对中... +HP:0003119,Abnormal circulating lipid concentration ,脂代谢异常,Any deviation from the normal concentration of a lipid in the blood circulation. ,校对中... +HP:0003121,Limb joint contracture ,肢体关节挛缩,"A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs. ",校对中... +HP:0003124,Hypercholesterolemia ,高胆固醇血症,An increased concentration of cholesterol in the blood. ,校对中... +HP:0003125,Reduced factor VIII activity ,凝血因子VIII活性减低,"Reduced activity of coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. ",校对中... +HP:0003126,Low-molecular-weight proteinuria ,低分子量蛋白尿,Excretion in urine of proteins of a size smaller than albumin (molecular weight 69 kD). ,校对中... +HP:0003127,Hypocalciuria ,低钙尿症,An abnormally decreased calcium concentration in the urine. ,校对中... +HP:0003128,Lactic acidosis ,乳酸酸中毒,"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. ",校对中... +HP:0003130,Abnormal peripheral myelination ,外周神经髓鞘异常,An abnormality of the myelination of motor and sensory peripheral nerves. These are axons for motor nerves and dendrites for sensory nerves in the strict anatomic sense. ,校对中... +HP:0003131,Cystinuria ,胱氨酸尿症,An increased concentration of cystine in the urine. ,校对中... +HP:0003133,Abnormality of the spinocerebellar tracts ,脊髓小脑束异常,"An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract, the anterior spinocerebellar tract, and the posterior spinocerebellar tract. ",校对中... +HP:0003134,Abnormality of peripheral nerve conduction ,周围神经传导异常,An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS). ,校对中... +HP:0003137,Prolinuria ,脯氨酸尿,An increased concentration of proline in the urine. ,校对中... +HP:0003138,Increased blood urea nitrogen ,血液尿素氮升高,An increased amount of nitrogen in the form of urea in the blood. ,校对中... +HP:0003139,Panhypogammaglobulinemia ,全丙种球蛋白减少血症,A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. ,校对中... +HP:0003141,Increased LDL cholesterol concentration ,高β-脂蛋白血症,An elevated concentration of low-density lipoprotein cholesterol in the blood. ,校对中... +HP:0003144,Increased serum serotonin ,血清5-羟色胺（血清素）水平升高,A increased concentration of serotonin in the blood. ,校对中... +HP:0003145,Decreased adenosylcobalamin ,腺苷钴胺素减少,Decreased concentration of adenosylcobalamin. Adenosylcobalamin is one of the active forms of vitamin B12. ,校对中... +HP:0003146,Hypocholesterolemia ,低胆固醇血症,An decreased concentration of cholesterol in the blood. ,校对中... +HP:0003148,Elevated serum acid phosphatase ,血清酸性磷酸酶升高, , +HP:0003149,Hyperuricosuria ,高尿酸尿症,An abnormally high level of uric acid in the urine. ,校对中... +HP:0003150,Glutaric aciduria ,戊二酸尿症,An increased concentration of glutaric acid in the urine. ,校对中... +HP:0003153,Cystathioninuria ,胱硫醚尿症,An elevated urinary concentration of cystathionine. ,校对中... +HP:0003154,Increased circulating ACTH level ,血促肾上腺皮质激素（ACTH）水平升高,"An abnormal increased in the concentration of corticotropin, also known as adrenocorticotropic hormone (ACTH), in the blood. ",校对中... +HP:0003155,Elevated circulating alkaline phosphatase concentration ,碱性磷酸酶升高,Abnormally increased serum levels of alkaline phosphatase activity. ,校对中... +HP:0003158,Hyposthenuria ,低渗尿,"An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine. ",校对中... +HP:0003159,Hyperoxaluria ,高草酸尿症,Increased excretion of oxalates in the urine. ,校对中... +HP:0003160,Abnormal isoelectric focusing of serum transferrin ,血清转铁蛋白的等电位聚焦异常,"Glycosylated transferrin concentrations can be measured in serum as a marker of N-linked glycosylation fidelity. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. These terms are retained for historical reasons but for new annotations the precise glycosylation defect should be recorded. ",校对中... +HP:0003161,未找到信息,-,-,- +HP:0003162,Fasting hypoglycemia ,空腹低血糖, , +HP:0003163,Elevated urinary delta-aminolevulinic acid ,尿δ-氨基乙酰丙酸水平升高,An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the urine. ,校对中... +HP:0003164,Hypothalamic gonadotropin-releasing hormone deficiency ,下丘脑促性腺激素释放激素缺乏症, , +HP:0003165,Elevated circulating parathyroid hormone level ,血甲状旁腺激素水平升高,An abnormal increased concentration of parathyroid hormone. ,校对中... +HP:0003166,Increased urinary taurine ,尿牛磺酸增加,Increased concentration of taurine in the urine. ,校对中... +HP:0003170,Abnormal acetabulum morphology ,髋臼形态异常,"An abnormality of the acetabulum, i.e., the Acetabular part of hip bone, which together with the head of the femur forms the hip joint. ",校对中... +HP:0003172,Abnormality of the pubic bone ,耻骨异常,"An anomaly of the the pubic bone, i.e., of the ventral and anterior of the three principal components (publis, ilium, ischium) of the hip bone. ",校对中... +HP:0003173,Hypoplastic pubic bone ,耻骨发育不全,"Underdevelopment of the pubis, which together with the ilium and the ischium, is one of the three bones that make up the hip bone. ",校对中... +HP:0003175,Hypoplastic ischia ,坐骨发育不全,"Underdevelopment of the ischium, which forms the lower and back part of the hip bone. ",校对中... +HP:0003177,Squared iliac bones ,方形髂骨,A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance. ,校对中... +HP:0003179,Protrusio acetabuli ,髋臼内陷,Intrapelvic bulging of the medial acetabular wall. ,校对中... +HP:0003180,Flat acetabular roof ,扁平髋臼顶,"Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does. ",校对中... +HP:0003182,Shallow acetabular fossae ,髋臼窝变浅, , +HP:0003183,Wide pubic symphysis ,耻骨联合增宽,Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones. ,校对中... +HP:0003184,Decreased hip abduction ,髋关节外展减小,Reduced ability to move the femur outward to the side. ,校对中... +HP:0003185,Short greater sciatic notch ,骶髂切迹小,"The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a reduction in the height of the notch. ",校对中... +HP:0003186,Inverted nipples ,乳头内陷,The presence of nipples that instead of pointing outward are retracted inwards. ,校对中... +HP:0003187,Breast hypoplasia ,乳房发育不良,Underdevelopment of the breast. ,校对中... +HP:0003189,Long nose ,长鼻,"Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. ",校对中... +HP:0003191,Cleft ala nasi ,鼻翼裂,The presence of a notch in the margin of the ala nasi. ,校对中... +HP:0003193,Allergic rhinitis ,过敏性鼻炎,"It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea. ",校对中... +HP:0003194,Short nasal bridge ,短鼻梁,"Decreased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. ",校对中... +HP:0003196,Short nose ,短鼻,"Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. ",校对中... +HP:0003198,Myopathy ,肌病,A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. ,校对中... +HP:0003199,Decreased muscle mass ,肌量减少, , +HP:0003200,Ragged-red muscle fibers ,破碎红纤维,"An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged. The ragged-red is due to the accumulation of abnormal mitochondria below the plasma membrane of the muscle fiber, leading to the appearance of a red rim and speckled sarcoplasm. ",校对中... +HP:0003201,Rhabdomyolysis ,横纹肌溶解症,Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. ,校对中... +HP:0003202,Skeletal muscle atrophy ,骨骼肌萎缩,The presence of skeletal muscular atrophy (which is also known as amyotrophy). ,校对中... +HP:0003203,Impaired oxidative burst ,四氮唑蓝（NBT）还原试验阴性,"In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in superoxide-generating NADPH oxidase activity with inability to efficiently kill phagocytized bacteria. ",校对中... +HP:0003205,Curvilinear intracellular accumulation of autofluorescent lipopigment storage material ,自体荧光脂色素存储物质的胞内曲线堆积,An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern. ,校对中... +HP:0003206,Decreased activity of NADPH oxidase ,NADPH氧化酶活性降低, , +HP:0003208,Fingerprint intracellular accumulation of autofluorescent lipopigment storage material ,自体荧光脂色素存储物质的细胞内堆积指纹谱,An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern. ,校对中... +HP:0003209,Decreased pyruvate carboxylase activity ,丙酮酸羧化酶活性降低,A decreased rate of pyruvate carboxylase activity. ,校对中... +HP:0003210,Decreased methylmalonyl-CoA mutase activity ,甲基丙二酰辅酶A变位酶活性降低,An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of methylmalonyl-CoA mutase activity. ,校对中... +HP:0003212,Increased circulating IgE level ,循环IgE升高,An abnormally increased overall level of immunoglobulin E in blood. ,校对中... +HP:0003213,Deficient excision of UV-induced pyrimidine dimers in DNA ,紫外线引起的DNA分子中嘧啶二聚体的切除缺陷, , +HP:0003214,Prolonged G2 phase of cell cycle ,细胞周期中G2期延长, , +HP:0003215,Dicarboxylic aciduria ,二羧酸尿症,An increased concentration of dicarboxylic acid in the urine. ,校对中... +HP:0003216,Generalized amyloid deposition ,淀粉样物质的广泛沉积,A diffuse form of amyloidosis. ,校对中... +HP:0003217,Hyperglutaminemia ,高谷氨酰胺血症,An increased concentration of glutamine in the blood. ,校对中... +HP:0003218,Oroticaciduria ,乳清酸尿症,An increased concentration of orotic acid in the urine. ,校对中... +HP:0003219,Ethylmalonic aciduria ,乙基丙二酸尿症,An increased concentration of ethylmalonic acid in the urine. ,校对中... +HP:0003220,Abnormality of chromosome stability ,染色体稳定性异常,A type of chromosomal aberration characterised by reduced resistance of chromosomes to change or deterioration. ,校对中... +HP:0003221,Chromosomal breakage induced by crosslinking agents ,交联剂诱发的染色体断裂,Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C. ,校对中... +HP:0003223,Decreased methylcobalamin ,甲基钴胺素减少,Decreased concentration of methylcobalamin. Methylcobalamin is a form of vitamin B12. ,校对中... +HP:0003224,Increased cellular sensitivity to UV light ,对紫外光的细胞敏感度增强, , +HP:0003225,Reduced coagulation factor V activity ,凝血因子V活性减低,Decreased activity of coagulation factor V. ,校对中... +HP:0003226,Rectilinear intracellular accumulation of autofluorescent lipopigment storage material ,自体荧光脂色素存储物质的直线性胞内堆积,An intracellular accumulation of autofluorescent lipopigment storage material in a straight or rectilinear pattern. ,校对中... +HP:0003228,Hypernatremia ,高钠血症,An abnormally increased sodium concentration in the blood. ,校对中... +HP:0003231,Hypertyrosinemia ,高酪氨酸血症,An increased concentration of tyrosine in the blood. ,校对中... +HP:0003232,Mitochondrial malic enzyme reduced ,线粒体苹果酸酶减少, , +HP:0003233,Decreased HDL cholesterol concentration ,低α-脂蛋白血症,An decreased concentration of high-density lipoprotein cholesterol in the blood. ,校对中... +HP:0003234,Decreased plasma carnitine ,血浆肉碱降低,A decreased concentration of carnitine in the blood. ,校对中... +HP:0003235,Hypermethioninemia ,高甲硫胺酸血症,An increased concentration of methionine in the blood. ,校对中... +HP:0003236,Elevated circulating creatine kinase concentration ,血清肌酸磷酸激酶升高,"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy. ",校对中... +HP:0003237,Increased circulating IgG level ,循环IgG水平升高,An abnormally increased level of immunoglobulin G in blood. ,校对中... +HP:0003238,Hyperpepsinogenemia I ,高胃蛋白酶原血症, , +HP:0003239,Phosphoethanolaminuria ,磷酸乙醇胺尿症,An increased concentration of phosphoethanolamine in the urine. ,校对中... +HP:0003240,Increased phosphoribosylpyrophosphate synthetase level ,磷酸核糖焦磷酸合成酶增高,"Abnormally elevated level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. ",校对中... +HP:0003241,External genital hypoplasia ,外生殖器发育不良,Underdevelopment of part or all of the external reproductive organs. ,校对中... +HP:0003244,Penile hypospadias ,阴茎型尿道下裂,Location of the urethral opening on the inferior aspect of the penis. ,校对中... +HP:0003246,Prominent scrotal raphe ,阴囊中缝突出,Increased size of the ridge of tissue that extends along the midline of the scrotum. ,校对中... +HP:0003247,Overgrowth of external genitalia ,外生殖器过度生长, , +HP:0003248,Gonadal tissue inappropriate for external genitalia or chromosomal sex ,性腺组织与外生殖器或染色体性别不相配, , +HP:0003249,Genital ulcers ,生殖器溃疡, , +HP:0003250,Aplasia of the vagina ,阴道发育不全,Aplasia of the vagina. ,校对中... +HP:0003251,Male infertility ,男性不育, , +HP:0003252,Anteriorly displaced genitalia ,外生殖器向前移位, , +HP:0003256,Abnormality of the coagulation cascade ,凝血因子级联反应异常,"An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators. ",校对中... +HP:0003258,Glyoxalase deficiency ,乙二醛酶缺乏症, , +HP:0003259,Elevated circulating creatinine concentration ,血清肌酐水平升高,An increased amount of creatinine in the blood. ,校对中... +HP:0003260,Hydroxyprolinemia ,羟脯氨酸血症,An increased concentration of hydroxyproline in the blood. ,校对中... +HP:0003261,Increased circulating IgA level ,循环IgA升高,An abnormally increased level of immunoglobulin A in blood. ,校对中... +HP:0003262,Smooth muscle antibody positivity ,平滑肌抗体阳性,The presence in serum of antibodies against smooth muscle. ,校对中... +HP:0003264,Deficiency of N-acetylglucosamine-1-phosphotransferase ,N-乙酰氨基葡萄糖胺-1-磷酸转移酶缺陷, , +HP:0003265,Neonatal hyperbilirubinemia ,新生儿高胆红素血症,A type of hyperbilirubinemia with neonatal onset. ,校对中... +HP:0003267,Reduced orotidine 5-prime phosphate decarboxylase level ,乳清苷5'磷酸苷脱羧酶活性降低,An abnormal decrease in orotidine 5'-phosphate decarboxylase level. ,校对中... +HP:0003268,Argininuria ,精氨酸尿,A increased concentration of arginine in the urine. ,校对中... +HP:0003269,Sudanophilic leukodystrophy ,嗜苏丹型脑白质营养不良, , +HP:0003270,Abdominal distention ,腹胀,Distention of the abdomen. ,校对中... +HP:0003271,Visceromegaly ,内脏肿大,Abnormal increased size of the viscera of the abdomen. ,校对中... +HP:0003272,Abnormal hip bone morphology ,髋骨形态异常,An abnormality of the hip bone. ,校对中... +HP:0003273,Hip contracture ,髋关节挛缩, , +HP:0003274,Hypoplastic acetabulae ,髋臼发育低下,Underdeveloped acetabulae. ,校对中... +HP:0003275,Narrow pelvis bone ,骨盆狭窄,Reduced side to side width of the pelvis. ,校对中... +HP:0003276,Pelvic bone exostoses ,骨盆外生骨疣,"A benign growth the projects outward from the bone surface of the pelvis. Exostoses are capped by cartilage, and arise from a bone that develops from cartilage. ",校对中... +HP:0003277,Constricted iliac wing ,收缩的髂翼, , +HP:0003278,Square pelvis bone ,方形骨盆,"An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure. ",校对中... +HP:0003279,Coxa magna ,髋膨大,Widening of the femoral head and neck. ,校对中... +HP:0003281,Increased circulating ferritin concentration ,血清铁蛋白升高,Increased concentration of ferritin in the blood circulation. ,校对中... +HP:0003282,Low alkaline phosphatase ,低碱性磷酸酶,Abnormally reduced serum levels of alkaline phosphatase. ,校对中... +HP:0003286,Cystathioninemia ,胱硫醚血症,An increased concentration of cystathionine in the blood. ,校对中... +HP:0003287,Abnormality of mitochondrial metabolism ,线粒体代谢异常,A functional anomaly of mitochondria. ,校对中... +HP:0003292,Decreased serum leptin ,血清瘦素水平降低,A decreased concentration of leptin in the blood. ,校对中... +HP:0003296,Hyperthreoninuria ,高苏氨酸尿症,An increased concentration of threonine in the urine. ,校对中... +HP:0003297,Hyperlysinuria ,高赖氨酸尿症,An increased concentration of lysine in the urine. ,校对中... +HP:0003298,Spina bifida occulta ,隐性脊柱裂,The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. ,校对中... +HP:0003300,Ovoid vertebral bodies ,卵形椎体,"When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval. ",校对中... +HP:0003301,Irregular vertebral endplates ,椎体终板不规则,"An irregular surface of the vertebral end plates, which are normally relatively smooth. ",校对中... +HP:0003302,Spondylolisthesis ,脊椎滑脱症,Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra. ,校对中... +HP:0003304,Spondylolysis ,峡部裂,"Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma. ",校对中... +HP:0003305,Block vertebrae ,脊椎分节不全,Congenital synostosis between two or more adjacent vertebrae (partial or complete fusion of adjacent vertabral bodies). ,校对中... +HP:0003306,Spinal rigidity ,脊柱强直,Reduced ability to move the vertebral column with a resulting limitation of neck and trunk flexion. ,校对中... +HP:0003307,Hyperlordosis ,脊柱前凸过度,Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine. ,校对中... +HP:0003308,Cervical subluxation ,颈椎半脱位,A partial dislocation of one or more intervertebral joints in the cervical vertebral column. ,校对中... +HP:0003309,Ovoid thoracolumbar vertebrae ,卵形胸腰椎体, , +HP:0003310,Abnormality of the odontoid process ,齿状突异常,"Abnormality of the dens of the axis, which is also known as the odontoid process. ",校对中... +HP:0003311,Hypoplasia of the odontoid process ,齿状突发育不全,Developmental hypoplasia of the dens of the axis. ,校对中... +HP:0003312,Abnormal form of the vertebral bodies ,椎体形态异常,Abnormal morphology of vertebral body. ,校对中... +HP:0003316,Butterfly vertebrae ,蝴蝶椎,A butterfly vertebra (sagittal cleft vertebra or anterior rachischisis) is a sagittal defect in the vertebral body caused by failure of fusion of the two lateral chondrification centers during embryogenesis. The name is based on the appearance of the two hemivertebrae emerging as butterfly wings from the central cleft on x-ray. ,校对中... +HP:0003318,Cervical spine hypermobility ,颈椎过度活动, , +HP:0003319,Abnormality of the cervical spine ,颈椎异常,Any abnormality of the cervical vertebral column. ,校对中... +HP:0003320,C1-C2 subluxation ,C1-C2半脱位,A partial dislocation of the atlantoaxial joints. ,校对中... +HP:0003321,Biconcave flattened vertebrae ,双凹扁平椎体, , +HP:0003323,Progressive muscle weakness ,进行性肌无力, , +HP:0003324,Generalized muscle weakness ,泛发性肌无力,"Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature. ",校对中... +HP:0003325,Limb-girdle muscle weakness ,肢带肌无力,"Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. ",校对中... +HP:0003326,Myalgia ,肌痛,Pain in muscle. ,校对中... +HP:0003327,Axial muscle weakness ,中轴肌无力,"Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs). ",��对中... +HP:0003329,Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes ,毛干不规则扁平分布并绕发轴180度扭转, , +HP:0003330,Abnormal bone structure ,骨结构异常,Any anomaly in the composite material or the layered arrangement of the bony skeleton. ,校对中... +HP:0003332,Absent primary metaphyseal spongiosa ,原发性干骺端松质缺如, , +HP:0003333,Increased serum beta-hexosaminidase ,血清β-氨基己糖苷酶增高, , +HP:0003334,Elevated circulating catecholamine level ,血儿茶酚胺水平升高,An abnormal increase in catecholamine concentration in the blood. ,校对中... +HP:0003336,Abnormal enchondral ossification ,软骨内骨化异常,"An abnormality of the process of endochondral ossification, which is a type of replacement ossification in which bone tissue replaces cartilage. ",校对中... +HP:0003337,Reduced prothrombin consumption ,凝血酶原消耗减少,"The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia. ",校对中... +HP:0003339,Pyrimidine-responsive megaloblastic anemia ,嘧啶反应性巨幼细胞性贫血,A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid. ,校对中... +HP:0003341,Subepidermal blistering with cleavage in the lamina lucida ,表皮下水疱伴透明层裂隙,The formation of bullae (blisters) with cleavage in the lamina lucida layer of the skin. ,校对中... +HP:0003343,Reduced glutathione synthetase level ,谷胱甘肽合成酶缺乏症,"Reduced level of the enzyme glutathione synthetase, which catalyzes the last step in the synthesis of glutathione and a deficiency results in low levels of glutathione. Acidosis is due to reduced feedback inhibition of gamma-glutamyl cysteine synthetase in the gamma-glutamyl cycle, which ultimately leads to overproduction and accumulation of 5-oxoproline. ",校对中... +HP:0003344,3-Methylglutaric aciduria ,3-甲基戊二酸尿症, , +HP:0003345,Elevated urinary norepinephrine ,尿去甲肾上腺素浓度增高,An increased concentration of noradrenaline in the urine. ,校对中... +HP:0003347,Impaired lymphocyte transformation with phytohemagglutinin ,植物血凝素淋巴细胞转化受损,"Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes. ",校对中... +HP:0003348,Hyperalaninemia ,高丙氨酸血症,An increased concentration of alanine in the blood. ,校对中... +HP:0003349,Low cholesterol esterification rate ,低胆固醇酯化率,A reduction in the rate of cholesterol esterification. ,校对中... +HP:0003351,Decreased circulating renin level ,血肾素水平降低,An decreased level of renin in the blood. ,校对中... +HP:0003352,Endopolyploidy on chromosome studies of bone marrow ,骨髓染色体的核内多倍性检查,An increase in the number of chromosome sets per cell in bone marrow cells. ,校对中... +HP:0003353,Propionyl-CoA carboxylase deficiency ,丙酰辅酶A羧化酶缺乏,An abnormality of amino acid metabolism characterized by a decreased level of propionyl-CoA carboxylase. ,校对中... +HP:0003354,Hyperthreoninemia ,高苏氨酸血症,An increased concentration of threonine in the blood. ,校对中... +HP:0003355,Aminoaciduria ,氨基酸尿,An increased concentration of an amino acid in the urine. ,校对中... +HP:0003357,Thymic hormone decreased ,胸腺激素减少,A reduction in the level of thymic horomone. ,校对中... +HP:0003358,Elevated intracellular cystine ,胞内胱氨酸浓度升高,"An increased concentration of cystine within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells. ",校对中... +HP:0003359,Decreased urinary sulfate ,尿硫酸盐减少,Decreased concentration of sulfate in the urine. ,校对中... +HP:0003362,Increased VLDL cholesterol concentration ,循环系统内的极低密度脂蛋白胆固醇浓度增高,An increase in the amount of very-low-density lipoprotein cholesterol in the blood. ,校对中... +HP:0003363,Abdominal situs inversus ,腹部内脏逆位,"A left-right reversal (or ""mirror reflection"") of the anatomical location of the viscera of the abdomen. ",校对中... +HP:0003365,Arthralgia of the hip ,髋关节痛,Joint pain affecting the hip. ,校对中... +HP:0003366,Abnormal femoral neck/head morphology ,股骨颈/头形态异常, , +HP:0003370,Flat capital femoral epiphysis ,股骨近端骨骺扁平,An abnormal flattening of the proximal epiphysis of the femur. ,校对中... +HP:0003371,Enlargement of the proximal femoral epiphysis ,股骨近端骨骺膨大,An abnormal enlargement of the proximal epiphysis of the femur. ,校对中... +HP:0003375,Narrow greater sciatic notch ,坐骨大切迹变窄,"A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium. ",校对中... +HP:0003376,Steppage gait ,跨阈步态,"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again. ",校对中... +HP:0003378,Axonal degeneration/regeneration ,轴索变性/再生,A pattern of simultaneous degeneration and regeneration of axons (see comment). ,校对中... +HP:0003380,Decreased number of peripheral myelinated nerve fibers ,周围有髓神经纤维数量减少,"A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy). ",校对中... +HP:0003382,Hypertrophic nerve changes ,肥厚性神经改变, , +HP:0003383,Onion bulb formation ,洋葱球形成,"Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves. ",校对中... +HP:0003384,Peripheral axonal atrophy ,外围神经轴索萎缩,Atrophic changes of axons of the peripheral nervous system. ,校对中... +HP:0003387,Decreased number of large peripheral myelinated nerve fibers ,大的周围有髓鞘神经纤维数量减少,A reduced number of large myelinated nerve fibers. ,校对中... +HP:0003388,Easy fatigability ,易疲劳性,Increased susceptibility to fatigue. ,校对中... +HP:0003390,Sensory axonal neuropathy ,感觉轴索神经病,An axonal neuropathy of peripheral sensory nerves. ,校对中... +HP:0003391,Gowers sign ,高尔斯征,A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. ,校对中... +HP:0003392,First dorsal interossei muscle weakness ,第一背侧骨间肌无力, , +HP:0003393,Thenar muscle atrophy ,鱼际肌萎缩,"Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb. ",校对中... +HP:0003394,Muscle spasm ,肌肉痉挛,Sudden and involuntary contractions of one or more muscles. ,校对中... +HP:0003396,Syringomyelia ,脊髓空洞症,"Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord. ",校对中... +HP:0003397,Generalized hypotonia due to defect at the neuromuscular junction ,由于神经肌肉接头缺陷导致的广泛性肌张力减低, , +HP:0003400,Basal lamina onion bulb formation ,基底层“洋葱头样”改变,A type of onion bulb formation prominently affecting the area of the basal lamina. ,校对中... +HP:0003401,Paresthesia ,感觉异常,"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. ",校对中... +HP:0003402,Decreased miniature endplate potentials ,微终板电位降低,"An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. ",校对中... +HP:0003403,EMG: decremental response of compound muscle action potential to repetitive nerve stimulation ,EMG,A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation. ,校对中... +HP:0003405,Diffuse axonal swelling ,弥漫性轴索肿胀, , +HP:0003406,Peripheral nerve compression ,周围神经受压, , +HP:0003409,Distal sensory impairment of all modalities ,远端各种感觉障碍, , +HP:0003411,Proximal femoral metaphyseal irregularity ,股骨近端干骺端不规则,Irregularity of the normally smooth surface of the proximal metaphysis of the femur. ,校对中... +HP:0003413,Atlantoaxial abnormality ,寰枢椎畸形,"An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. ",校对中... +HP:0003414,Atlantoaxial dislocation ,寰枢椎脱位,Partial dislocation of the atlantoaxial joint. ,校对中... +HP:0003416,Spinal canal stenosis ,椎管狭窄,An abnormal narrowing of the spinal canal. ,校��中... +HP:0003417,Coronal cleft vertebrae ,冠状位脊柱裂,Frontal schisis (cleft or cleavage) of vertebral bodies. ,校对中... +HP:0003418,Back pain ,背部疼痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back. ",校对中... +HP:0003419,Low back pain ,下背部疼痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the lower back. ",校对中... +HP:0003422,Vertebral segmentation defect ,椎体分节缺陷,An abnormality related to a defect of vertebral separation during development. ,校对中... +HP:0003423,Thoracolumbar kyphoscoliosis ,胸腰段脊柱后侧凸畸形, , +HP:0003426,First dorsal interossei muscle atrophy ,第一背侧骨间肌萎缩, , +HP:0003427,Thenar muscle weakness ,鱼际肌无力, , +HP:0003429,CNS hypomyelination ,中枢神经系统髓鞘形成减少,Reduced amount of myelin in the central nervous system resulting from defective myelinogenesis. ,校对中... +HP:0003431,Decreased motor nerve conduction velocity ,运动神经传导速度降低,A type of decreased nerve conduction velocity that affects the motor neuron. ,校对中... +HP:0003434,Sensory ataxic neuropathy ,感觉性共济失调性神经病, , +HP:0003435,Cold-induced hand cramps ,寒冷诱发的手肌强直, , +HP:0003436,Prolonged miniature endplate currents ,微终板电流延长,"An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction. ",校对中... +HP:0003438,Absent Achilles reflex ,跟腱反射缺如,"Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed. ",校对中... +HP:0003440,Horizontal sacrum ,水平骶骨, , +HP:0003443,Decreased size of nerve terminals ,神经终板缩小,A reduction in the size of nerve terminals. ,校对中... +HP:0003444,EMG: chronic denervation signs ,肌电图:慢性失神经支配的征象,Evidence of chronic denervation on electromyography. ,校对中... +HP:0003445,EMG: neuropathic changes ,肌电图,"The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials). ",校对中... +HP:0003447,Axonal loss ,轴突缺失,A reduction in the number of axons in the peripheral nervous system. ,校对中... +HP:0003448,Decreased sensory nerve conduction velocity ,感觉神经传导速度降低,Reduced speed of conduction of the action potential along a sensory nerve. ,校对中... +HP:0003449,Cold-induced muscle cramps ,冷刺激引起的肌肉痉挛,Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures. ,校对中... +HP:0003450,Axonal regeneration ,轴突再生,The presence of axonal regeneration following a previous axonal lesion. ,校对中... +HP:0003451,Increased rate of premature chromosome condensation ,早熟染色体凝缩率增高,An increased rate of premature chromosome condensation. ,校对中... +HP:0003452,Increased serum iron ,血清铁离子增高, , +HP:0003453,Antineutrophil antibody positivity ,抗中性粒细胞抗体阳性,The presence of autoantibodies in the serum that react against neutrophils. ,校对中... +HP:0003454,Platelet antibody positive ,血小板抗体阳性,The presence in the serum of autoantibodies directed against thrombocytes. ,校对中... +HP:0003455,Elevated circulating long chain fatty acid concentration ,长链脂肪酸水平升高,Increased concentration of long-chain fatty acids in the blood circulation. ,校对中... +HP:0003456,Low urinary cyclic AMP response to PTH administration ,尿环腺苷酸对甲状旁腺素（PTH）治疗反应低下, , +HP:0003457,EMG abnormality ,肌电图异常,Abnormal results of investigations using electromyography (EMG). ,校对中... +HP:0003458,EMG: myopathic abnormalities ,EMG:肌病样异常,"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. ",校对中... +HP:0003459,Polyclonal elevation of IgM ,IgM抗体多克隆性增高,A heterogeneous increase in IgM immunoglobulins characterized by a diffuse band on serum electrophoresis. ,校对中... +HP:0003460,Decreased circulating total IgA ,循环总 IgA 降低,Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L). ,校对中... +HP:0003461,Increased urinary O-linked sialopeptides ,尿液唾液酸肽增加,Excretion of peptides conjugated to sialic acid in the urine. ,校对中... +HP:0003462,Elevated 8-dehydrocholesterol ,8-脱氢胆固醇水平升高, , +HP:0003463,Increased extraneuronal autofluorescent lipopigment ,神经元外自体荧光脂褐素增加,"Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. ",校对中... +HP:0003465,Elevated 8(9)-cholestenol ,8（9）-胆甾烯醇水平升高, , +HP:0003466,Paradoxical increased cortisol secretion on dexamethasone suppression test ,地塞米松抑制试验皮质醇分泌反常增加, , +HP:0003467,Atlantoaxial instability ,寰枢椎不稳,Abnormally increased movement at the junction between the first cervical (atlas) and the second cervical (axis) vertebrae as a result of either a bony or ligamentous anomaly. ,校对中... +HP:0003468,Abnormal vertebral morphology ,椎骨形态异常,An abnormality of one or more of the vertebrae. ,校对中... +HP:0003469,Peripheral dysmyelination ,外周神经髓鞘化障碍,Defective structure and function of myelin sheaths. Dysmyelination is distinguished from demyleination where there is destruction or damage of previously normal myelination. ,校对中... +HP:0003470,Paralysis ,瘫痪,"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. ",校对中... +HP:0003472,Hypocalcemic tetany ,低钙搐搦,"Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms. ",校对中... +HP:0003473,Fatigable weakness ,疲劳性肌无力,"A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. ",校对中... +HP:0003474,Somatic sensory dysfunction ,躯体感觉异常,"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing. ",校对中... +HP:0003477,Peripheral axonal neuropathy ,轴索性周围神经病,An abnormality characterized by disruption of the normal functioning of peripheral axons. ,校对中... +HP:0003481,Segmental peripheral demyelination/remyelination ,节段性神经末梢脱髓鞘/髓鞘再生,A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves. ,校对中... +HP:0003482,EMG: axonal abnormality ,肌电图,"Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials. ",校对中... +HP:0003484,Upper limb muscle weakness ,上肢肌无力,Weakness of the muscles of the arms. ,校对中... +HP:0003487,Babinski sign ,巴彬斯基征,Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract. ,校对中... +HP:0003489,Acute episodes of neuropathic symptoms ,神经性症状急性发作, , +HP:0003491,Elevated urine pyrophosphate ,尿焦磷酸增高,"An abnormally increased diphosphate(4-) concentration in the urine. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. ",校对中... +HP:0003493,Antinuclear antibody positivity ,抗核抗体阳性,The presence of autoantibodies in the serum that react against nuclei or nuclear components. ,校对中... +HP:0003495,GM2-ganglioside accumulation ,GM2神经节苷脂堆积,Cellular accumulation of GM2 gangliosides. ,校对中... +HP:0003496,Increased circulating IgM level ,循环IgM水平升高,An abnormally increased level of immunoglobulin M in blood. ,校对中... +HP:0003498,Disproportionate short stature ,不成比例的身材矮小,A kind of short stature in which different regions of the body are shortened to differing extents. ,校对中... +HP:0003502,Mild short stature ,轻度身材矮小,"A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. ",校对中... +HP:0003508,Proportionate short stature ,成比例身材矮小,A kind of short stature in which different regions of the body are shortened to a comparable extent. ,校对中... +HP:0003510,Severe short stature ,严重的身材矮小,"A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. ",校对中... +HP:0003514,Deficiency or absence of cytochrome b(-245) ,细胞色素b（-245）缺乏或缺失, , +HP:0003517,Birth length greater than 97th percentile ,出生身长大于97百分位数, , +HP:0003521,Disproportionate short-trunk short stature ,不成比例的短躯干性矮小,A type of disproportionate short stature characterized by a short trunk but a average-sized limbs. ,校对中... +HP:0003524,Decreased methionine synthase activity ,甲硫氨酸合成酶活性降低,A reduction in methionine synthase activity. ,校对中... +HP:0003526,Orotic acid crystalluria ,乳清酸结晶尿症,Formation of crystals owing to an increased concentration of orotic acid in the urine. ,校对中... +HP:0003527,Hyperprostaglandinuria ,高前列腺素尿症,An increased concentration of prostaglandin in the urine. ,校对中... +HP:0003528,Elevated calcitonin ,降钙素升高, , +HP:0003529,Parathormone-independent increased renal tubular calcium reabsorption ,非甲状旁腺激素依赖性肾小管钙重吸收增加,An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels. ,校对中... +HP:0003530,Elevated circulating glutaric acid concentration ,戊二酸血症,An increased concentration of glutaric acid in the blood. ,校对中... +HP:0003532,Ornithinuria ,鸟氨酸尿症,An increased concentration of ornithine in the urine. ,校对中... +HP:0003533,Reduced acetaldehyde dehydrogenase level ,乙醛氧化延迟,Decreased level of acetaldehyde dehydrogenase (ADH). ADH and alcohol dehydrogenase (ALDH) are the primary enzymes involved in alcohol metabolism. ,校对中... +HP:0003534,Reduced xanthine dehydrogenase level ,黄嘌呤脱氢酶活性降低,An abnormal reduction in xanthine dehydrogenase level. ,校对中... +HP:0003535,3-Methylglutaconic aciduria ,3-甲基戊烯二酸尿症,An increased amount of 3-methylglutaconic acid in the urine. ,校对中... +HP:0003536,Decreased fumarate hydratase activity ,延胡索酸水解酶活性降低,An abnormality of Krebs cycle metabolism that is characterized by a decreased rate of fumarate hydratase activity. ,校对中... +HP:0003537,Hypouricemia ,低尿酸血症,An abnormally low level of uric acid in the blood. ,校对中... +HP:0003538,Increased serum iduronate sulfatase level ,血清艾杜糖醛硫酸酯酶活性增高,An increased level of iduronate-2-sulfatase activity in the blood. ,校对中... +HP:0003540,Impaired platelet aggregation ,血小板聚集障碍,"An impairment in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. ",校对中... +HP:0003541,Urinary glycosaminoglycan excretion ,糖胺聚糖尿排泄,Excretion of glycosaminoglycan in the urine. Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit. ,校对中... +HP:0003542,Increased serum pyruvate ,血清丙酮酸增高,An increased concentration of pyruvate in the blood. ,校对中... +HP:0003546,Exercise intolerance ,运动不耐受,A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. ,校对中... +HP:0003547,Shoulder girdle muscle weakness ,肩胛带肌肉无力,"The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. ",校对中... +HP:0003548,Subsarcolemmal accumulations of abnormally shaped mitochondria ,肌膜下形态异常的线粒体沉积,"An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology. ",校对中... +HP:0003549,Abnormality of connective tissue ,结缔组织异常,"Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat). ",校对中... +HP:0003550,Predominantly lower limb lymphedema ,主要累及下肢的淋巴水肿,"Localized fluid retention and tissue swelling caused by a compromised lymphatic system, affecting mainly the legs. ",校对中... +HP:0003551,Difficulty climbing stairs ,爬楼梯困难,Reduced ability to climb stairs. ,校对中... +HP:0003552,Muscle stiffness ,肌肉僵硬,A condition in which muscles cannot be moved quickly without accompanying pain or spasm. ,校对中... +HP:0003554,Type 2 muscle fiber atrophy ,2型肌纤维萎缩,Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. ,校对中... +HP:0003555,Muscle fiber splitting ,肌纤维分裂,"Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches. ",校对中... +HP:0003557,Increased variability in muscle fiber diameter ,肌纤维直径变异性增大,An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. ,校对中... +HP:0003558,Viral infection-induced rhabdomyolysis ,病毒感染诱导的横纹肌瘤,Rhabdomyolysis induced by a viral infection. ,校对中... +HP:0003559,Muscle hyperirritability ,腱反射亢进, , +HP:0003560,Muscular dystrophy ,肌营养不良,"The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. ",校对中... +HP:0003561,Birth length less than 3rd percentile ,出生身长小于第3百分位数, , +HP:0003562,Abnormal metaphyseal vascular invasion ,干骺端血管异常侵犯, , +HP:0003563,Decreased LDL cholesterol concentration ,低β-脂蛋白血症​​,An decreased concentration of low-density lipoprotein cholesterol in the blood. ,校对中... +HP:0003564,Folate-dependent fragile site at Xq28 ,叶酸依赖性Xq28脆性位点,The presence of a folate sensitive fragile site at chromosome Xq28. ,校对中... +HP:0003565,Elevated erythrocyte sedimentation rate ,红细胞沉降速度升高,An increased erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. An elevation may indicate inflammation or may be caused by any condition that elevates fibrinogen. ,校对中... +HP:0003566,Increased serum prostaglandin E2 ,血清前列腺素E2增高,An increased concentration of prostaglandin E2 in the blood. ,校对中... +HP:0003568,Decreased glucosephosphate isomerase level ,葡萄糖磷酸异构酶活性降低,A decreased level of glucose-6-phosphate isomerase. ,校对中... +HP:0003570,Molybdenum cofactor deficiency ,钼辅助因子缺乏,"Absence of molybdenum cofactor(2-), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase. ",校对中... +HP:0003572,Low plasma citrulline ,低血浆瓜氨酸,A decreased concentration of citrulline in the blood. ,校对中... +HP:0003573,Increased total bilirubin ,总胆红素增加,Increased concentration of total (conjugated and unconjugated) bilirubin in the blood. ,校对中... +HP:0003574,Positive regitine blocking test ,酚妥拉明阻断试验阳性,"A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension. ",校对中... +HP:0003575,Increased intracellular sodium ,细胞内钠离子浓度增高,An abnormally increased sodium concentration in the cytosol. ,校对中... +HP:0003577,Congenital onset ,先天发病,A phenotypic abnormality that is present at birth. ,校对中... +HP:0003581,Adult onset ,成年期发病,"Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. ",校对中... +HP:0003584,Late onset ,老年期发病,A type of adult onset with onset of symptoms after the age of 60 years. ,校对中... +HP:0003587,Insidious onset ,隐袭发病,"Gradual, very slow onset of disease manifestations. ",校对中... +HP:0003593,Infantile onset ,婴儿期发病,Onset of signs or symptoms of disease between 28 days to one year of life. ,校对中... +HP:0003596,Middle age onset ,中年期发病,A type of adult onset with onset of symptoms at the age of 40 to 60 years. ,校对中... +HP:0003606,Absent urinary urothione ,尿硫蝶呤缺乏,Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine. ,校对中... +HP:0003607,4-hydroxyphenylacetic aciduria ,4-羟基苯乙酸尿症,Increased concentration of 4-hydroxyphenylacetic acid in the urine. ,校对中... +HP:0003609,Foam cells with lamellar inclusion bodies ,层状包涵体泡沫细胞,The presence of foam cells that contain lamellar inclusion bodies. ,校对中... +HP:0003612,Positive ferric chloride test ,三氯化铁试验阳性,"If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood. ",校对中... +HP:0003613,Antiphospholipid antibody positivity ,抗磷脂抗体阳性,The presence of circulating autoantibodies to phospholipids. ,校对中... +HP:0003614,Trimethylaminuria ,三甲胺尿症,Increased concentration of trimethylamine in the urine. ,校对中... +HP:0003616,Premature separation of centromeric heterochromatin ,着丝粒异染色质的过早分离, , +HP:0003621,Juvenile onset ,青少年期发病,Onset of signs or symptoms of disease between the age of 5 and 15 years. ,校对中... +HP:0003623,Neonatal onset ,新生儿期发病,Onset of signs or symptoms of disease within the first 28 days of life. ,校对中... +HP:0003634,Amyoplasia ,广泛肌肉发育不良,"Congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue. ",校对中... +HP:0003635,Loss of subcutaneous adipose tissue in limbs ,四肢皮下脂肪组织丢失,Loss (disappearance) of previously present subcutaneous fat tissue in arm or leg. ,校对中... +HP:0003639,Elevated urinary epinephrine ,尿肾上腺素增高,An increased concentration of adrenaline in the urine. ,校对中... +HP:0003640,Foam cells in visceral organs and CNS ,内脏与中枢神经系统泡沫细胞, , +HP:0003641,Hemoglobinuria ,血红蛋白尿,The presence of free hemoglobin in the urine. ,校对中... +HP:0003642,Type I transferrin isoform profile ,I型转铁蛋白异构体谱,"Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation. In the traditional nomenclature for congenital disorders of glycosylation, absence of entire glycans was designated type I, and loss of one or more monosaccharides as type II. ",校对中... +HP:0003643,Sulfite oxidase deficiency ,亚硫酸氧化酶缺乏症,Abnormally reduced sulfite oxidase level. ,校对中... +HP:0003645,Prolonged partial thromboplastin time ,部分凝血活酶时间延长,"Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. ",校对中... +HP:0003646,Bicarbonaturia ,尿重碳酸氢盐增多,Abnormally increased concentration of hydrogencarbonate in the urine. ,校对中... +HP:0003647,Electron transfer flavoprotein-ubiquinone oxidoreductase defect ,电子传递黄素蛋白 - 泛醌氧化还原酶缺陷,A deficiency of the electron transfer flavoprotein-ubiquinone oxidoreductase. ,校对中... +HP:0003648,Lacticaciduria ,乳酸血症,An increased concentration of lactic acid in the urine. ,校对中... +HP:0003651,Foam cells ,泡沫细胞,"The presence of foam cells, a type of macrophage that localizes to fatty deposits on blood vessel walls, where they ingest low-density lipoproteins and become laden with lipids, giving them a foamy appearance. ",校对中... +HP:0003652,Recurrent myoglobinuria ,复发性肌红蛋白尿,"Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. ",校对中... +HP:0003653,Cellular metachromasia ,细胞异染,"Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans. ",校对中... +HP:0003654,Reduced dihydropyrimidine dehydrogenase level ,双氢嘧啶脱氢酶活性降低,An abnormal reduction in dihydropyrimidine dehydrogenase (NADP+) level. ,校对中... +HP:0003655,Reduced level of N-acetylglucosaminyltransferase II ,N-乙酰氨基葡萄糖转移酶II活性降低,"An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity. ",校对中... +HP:0003656,Decreased beta-glucocerebrosidase level ,β-葡萄糖脑苷脂酶蛋白和活性降低,"Reduced level of the enzyme beta-glucosidase, an enzyme that catalyzes the hydrolysis of glucosylceramide into ceramide and glucose. ",校对中... +HP:0003657,Granular osmiophilic deposits (GROD) in cells ,胞内嗜锇颗粒沉积, , +HP:0003658,Hypomethioninemia ,低甲硫氨酸血症,A decreased concentration of methionine in the blood. ,校对中... +HP:0003674,Onset ,发病期,The age group in which disease manifestations appear. ,校对中... +HP:0003676,Progressive ,进行性/渐进性,"Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. ", +HP:0003677,Slowly progressive ,缓慢进展,Applies to a disease manifestation that only slowly increases in scope or severity over the course of time. , +HP:0003678,Rapidly progressive ,快速进展,Applies to a disease manifestation that quickly increases in scope or severity over the course of time. , +HP:0003680,Nonprogressive ,非进行性,"Applies to a disease manifestation that does not increase in scope or severity over the course of time, i.e., that does not worsen with age. ", +HP:0003683,Large beaked nose ,大喙鼻, , +HP:0003687,Centrally nucleated skeletal muscle fibers ,中央成核的骨骼肌纤维,An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). ,校对中... +HP:0003688,Cytochrome C oxidase-negative muscle fibers ,细胞色素C氧化酶阴性肌肉纤维,An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue. ,校对中... +HP:0003689,Multiple mitochondrial DNA deletions ,线粒体DNA多处缺失,The presence of multiple deletions of mitochondrial DNA (mtDNA). ,校对中... +HP:0003690,Limb muscle weakness ,四肢肌肉无力,Reduced strength and weakness of the muscles of the arms and legs. ,校对中... +HP:0003691,Scapular winging ,翼状肩胛,Abnormal protrusion of the scapula away from the surface of the back. ,校对中... +HP:0003693,Distal amyotrophy ,远端肌肉萎缩,Muscular atrophy affecting muscles in the distal portions of the extremities. ,校对中... +HP:0003694,Late-onset proximal muscle weakness ,晚发性近端肌无力,Lack of strength of the proximal musculature occurring late in the clinical course. ,校对中... +HP:0003697,Scapuloperoneal amyotrophy ,肩腓肌萎缩,Muscular atrophy in the distribution of shoulder girdle and peroneal muscles. ,校对中... +HP:0003698,Difficulty standing ,站立困难, , +HP:0003700,Generalized amyotrophy ,泛发性肌萎缩,"Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles. ",校对中... +HP:0003701,Proximal muscle weakness ,近端肌肉无力,A lack of strength of the proximal muscles. ,校对中... +HP:0003704,Scapuloperoneal weakness ,肩腓肌无力, , +HP:0003707,Calf muscle pseudohypertrophy ,小腿肌肉假性肥大,Enlargement of the muscles of the calf due to their replacement by connective tissue or fat. ,校对中... +HP:0003710,Exercise-induced muscle cramps ,运动引起的肌肉痉挛,Sudden and involuntary contractions of one or more muscles brought on by physical exertion. ,校对中... +HP:0003712,Skeletal muscle hypertrophy ,骨骼肌肥大,"Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells). ",校对中... +HP:0003713,Muscle fiber necrosis ,肌纤维坏死,"Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. ",校对中... +HP:0003715,Myofibrillar myopathy ,肌原纤维肌病,Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins. ,校对中... +HP:0003716,Generalized muscular appearance from birth ,出生时全身肌肉显露, , +HP:0003717,Minimal subcutaneous fat ,最低限度的皮下脂肪, , +HP:0003719,Muscle mounding ,肌球, , +HP:0003720,Generalized muscle hypertrophy ,广泛肌肉肥大,Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution. ,校对中... +HP:0003722,Neck flexor weakness ,颈屈肌无力,"Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). ",校对中... +HP:0003724,Shoulder girdle muscle atrophy ,肩胛带肌肉萎缩,Amyotrophy affecting the muscles of the shoulder girdle. ,校对中... +HP:0003725,Firm muscles ,肌肉坚硬, , +HP:0003729,Enteroviral dermatomyositis syndrome ,肠道病毒皮肌炎综合征, , +HP:0003730,EMG: myotonic runs ,强直型肌电图波,"Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG). ",校对中... +HP:0003731,Quadriceps muscle weakness ,股四头肌无力,"Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris). ",校对中... +HP:0003733,Thigh hypertrophy ,大腿肥大,Muscle hypertrophy affecting the thighs. ,校对中... +HP:0003736,Autophagic vacuoles ,自噬空泡,The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue. ,校对中... +HP:0003737,Mitochondrial myopathy ,线粒体肌病,A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers. ,校对中... +HP:0003738,Exercise-induced myalgia ,运动诱发的肌肉痛,The occurrence of an unusually high amount of muscle pain following exercise. ,校对中... +HP:0003739,Myoclonic spasms ,肌阵挛性抽搐, , +HP:0003740,Myotonia with warm-up phenomenon ,运动后肌强直现象,Myotonia that occurs after a period of rest and decreases with continuing exercise. ,校对中... +HP:0003741,Congenital muscular dystrophy ,先天性肌营养不良, , +HP:0003743,Genetic anticipation ,遗传早现,A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next. ,校对中... +HP:0003744,Genetic anticipation with paternal anticipation bias ,偏向父系传递的遗传早现,A type of genetic anticipation observed predominantly upon transmission from affected males. ,校对中... +HP:0003745,Sporadic ,散发的,"Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected. ",校对中... +HP:0003749,Pelvic girdle muscle weakness ,骨盆带肌无力,"Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. ",校对中... +HP:0003750,Increased muscle fatiguability ,肌肉易疲劳,"An abnormal, increased fatiguability of the musculature. ",校对中... +HP:0003752,Episodic flaccid weakness ,发作性弛缓无力,"Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching. ",校对中... +HP:0003755,Type 1 fibers relatively smaller than type 2 fibers ,1型纤维相对于2型纤维小,The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers. ,校对中... +HP:0003756,Skeletal myopathy ,骨骼肌病, , +HP:0003758,Reduced subcutaneous adipose tissue ,皮下脂肪组织减少,A reduced amount of fat tissue in the lowest layer of the integument. This feature can be appreciated by a reduced skinfold thickness. ,校对中... +HP:0003759,Hypoplasia of lymphatic vessels ,淋巴管发育不全,Congenital underdevelopment of lymph vessels. ,校对中... +HP:0003760,Percussion-induced rapid rolling muscle contractions ,扣击引起的快速滚动的肌肉收缩（PIRC）,"Mechanical percussion (i.e., striking a muscle with a reflex hammer) leads to spreading waves of muscle contractions that begin proximally and spread laterally across the muscle. ",校对中... +HP:0003761,Calcinosis ,钙质沉着,Formation of calcium deposits in any soft tissue. ,校对中... +HP:0003762,Uterus didelphys ,双子宫,A malformation of the uterus in which the uterus is present as a paired organ as a result of the failure of fusion of the mullerian ducts during embryogenesis. ,校对中... +HP:0003763,Bruxism ,磨牙症,Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep. ,校对中... +HP:0003764,Nevus ,色素痣,A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. ,校对中... +HP:0003765,Psoriasiform dermatitis ,银屑病样皮炎,"A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales). ",校对中... +HP:0003768,Periodic paralysis ,周期性麻痹,Episodes of muscle weakness. ,校对中... +HP:0003771,Pulp calcification ,牙髓钙化,"Pulp calcifications may appear as punctate calcifications, irregular, roughly spherical mineralized masses in any part of the pulp. It may occur isolated or associated to calcifications elsewhere such as the carotid arteries and kidneys. The diagnosis pulp calcifications can be established using radiological studies. ",校对中... +HP:0003774,Stage 5 chronic kidney disease ,慢性肾病5期,A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine. ,校对中... +HP:0003777,Pili torti ,卷发,"Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope. ",校对中... +HP:0003778,Short mandibular rami ,下颌支短, , +HP:0003779,Antegonial notching of mandible ,下颌骨前角切迹, , +HP:0003781,Excessive salivation ,唾液分泌过多,Excessive production of saliva. ,校对中... +HP:0003782,Eunuchoid habitus ,类无睾者习性,"A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more). ",校对中... +HP:0003783,Externally rotated/abducted legs ,腿外旋/外展, , +HP:0003784,Type 1 collagen overmodification ,Ⅰ型胶原过度修饰, , +HP:0003785,Decreased CSF homovanillic acid ,脑脊液高香草酸降低,Decreased concentration of homovanillic acid (HVA) in the cerebrospinal fluid. HVA is a metabolite of dopamine. ,校对中... +HP:0003787,Type 1 and type 2 muscle fiber minicore regions ,1 型和 2 型肌纤维微核心区域,Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers. ,校对中... +HP:0003789,Minicore myopathy ,小核肌病,Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers. ,校对中... +HP:0003791,Deposits immunoreactive to beta-amyloid protein ,β-淀粉样蛋白免疫反应性沉积, , +HP:0003795,Short middle phalanx of toe ,中节趾骨短,Developmental hypoplasia (shortening) of middle phalanx of toe. ,校对中... +HP:0003796,Irregular iliac crest ,髂嵴不规则,"Irregularity of the iliac crest, which is the superior border of the wing of the ilium. ",校对中... +HP:0003797,Limb-girdle muscle atrophy ,肢带肌萎缩,Muscular atrophy affecting the muscles of the limb girdle. ,校对中... +HP:0003798,Nemaline bodies ,杆状体,"Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces. ",校对中... +HP:0003799,Marked delay in bone age ,骨龄显著延迟, , +HP:0003800,Muscle abnormality related to mitochondrial dysfunction ,线粒体功能障碍引起的肌异常, , +HP:0003803,Type 1 muscle fiber predominance ,1型肌纤维优势,"An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). ",校对中... +HP:0003805,Rimmed vacuoles ,镶边空泡,"Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions. ",校对中... +HP:0003808,Abnormal muscle tone ,肌张力异常, , +HP:0003809,Reduced intrathoracic adipose tissue ,胸内脂肪组织减少,An abnormally reduced amount of adipose tissue in the thoracic cavity. ,校对中... +HP:0003810,Late-onset distal muscle weakness ,晚发型远端肌无力, , +HP:0003811,Neonatal death ,新生儿期夭折,Death within the first 28 days of life. ,校对中... +HP:0003812,Phenotypic variability ,表型多样性,A variability of phenotypic features. ,校对中... +HP:0003819,Death in childhood ,儿童期死亡,"Death in during childhood, defined here as between the ages of 2 and 10 years. ",校对中... +HP:0003826,Stillbirth ,死胎,Death of the fetus in utero after at least 20 weeks of gestation. ,校对中... +HP:0003828,Variable expressivity ,表现度差异,A variable severity of phenotypic features. ,校对中... +HP:0003829,Incomplete penetrance ,外显不全,A situation in which mutation carriers do not show clinically evident phenotypic abnormalities. ,校对中... +HP:0003831,Age-dependent penetrance ,年龄相关的外显率,A situation in which phenotypic abnormalities become evident with age. ,校对中... +HP:0003832,Abnormality of the tibial plateaux ,胫骨平台异常, , +HP:0003834,Shoulder dislocation ,肩关节脱位,A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation. ,校对中... +HP:0003835,Shoulder subluxation ,肩关节半脱位,A partial dislocation of the shoulder joint. ,校对中... +HP:0003836,Stippled calcification of the shoulder ,肩部点状钙化, , +HP:0003839,Abnormality of upper limb epiphysis morphology ,上肢骨骺形态异常, , +HP:0003850,Upper-limb metaphyseal irregularity ,上肢干骺端不规则, , +HP:0003855,Spurred metaphyses of the upper limbs ,上肢干骺端骨刺, , +HP:0003856,Upper limb metaphyseal widening ,上肢干骺端增宽,Increased width (breadth) of metaphyses of the arms. ,校对中... +HP:0003859,Cortical diaphyseal thickening of the upper limbs ,上肢骨干皮质增厚, , +HP:0003862,Absent humerus ,肱骨缺如,Missing humerus bone associated with congenital failure of development. ,校对中... +HP:0003864,Bifid humerus ,肱骨骨裂,Clefting affecting the humerus. ,校对中... +HP:0003865,Bowed humerus ,肱骨弯曲,A bending or abnormal curvature of the humerus. ,校对中... +HP:0003874,Humerus varus ,肱骨内翻, , +HP:0003879,Humeral pseudarthrosis ,肱骨假关节, , +HP:0003886,Wide humerus ,宽肱骨, , +HP:0003888,Flattened humeral heads ,肱骨头扁平, , +HP:0003890,Prominent deltoid tuberosities ,三角肌粗隆凸起, , +HP:0003895,Flattened humeral epiphyses ,肱骨骨骺扁平, , +HP:0003902,Epiphyseal stippling of the humerus ,肱骨骨骺斑点化,"The presence of abnormal punctate (speckled, dot-like) calcifications in the humeral epiphysis. ",校对中... +HP:0003907,Abnormality of the humeral metaphyses ,肱骨干骺端异常, , +HP:0003908,Corner fracture of metaphysis ,干骺端角骨折,Fracture or fragmentation at the lateral portion of the metaphysis of a long bone. The radiographic appearance is that of a small corner of metaphysis separated from the metaphyseal edge by thin linear radiolucency. This feature can be observed in child abuse but fragmented appearance of the metaphysis or facture-like lesions can also be detected in the setting of certain skeletal dysplasias. ,校对中... +HP:0003909,Cortical subperiosteal resorption of humeral metaphyses ,肱骨干骺端皮质骨膜下吸收, , +HP:0003911,Flared humeral metaphysis ,喇叭状肱骨干骺端,Flaring (increase of width with a splayed appearance) of the humeral metaphysis. ,校对中... +HP:0003941,Stippled calcification of the elbow ,肘关节点状钙化, , +HP:0003943,Abnormality of the joint spaces of the elbow ,肘关节关节间隙异常, , +HP:0003946,Abnormality of the epiphyses of the elbow ,肘部骨骺异常, , +HP:0003974,Absent radius ,桡骨缺如,Missing radius bone associated with congenital failure of development. ,校对中... +HP:0003977,Deformed radius ,桡骨变形, , +HP:0003978,Fractured radius ,骨折后的桡骨, , +HP:0003982,Aplasia of the ulna ,尺骨缺如,Missing ulna bone associated with congenital failure of development. ,校对中... +HP:0003988,Long ulna ,长尺骨,Increased length of the ulna. ,校对中... +HP:0003992,Slender ulna ,长尺骨,Reduction in diameter of the ulna. ,校对中... +HP:0003993,Broad ulna ,宽尺骨,Increased width of the ulna. ,校对中... +HP:0003994,Dislocated wrist ,手腕脱臼,An injury of the wrist with displacement of any of the eight carpal bones. ,校对中... +HP:0003995,Abnormality of the radial head ,桡骨小头异常, , +HP:0003997,Hypoplastic radial head ,桡骨头发育不全, , +HP:0003999,Abnormality of radial epiphyses ,桡骨骨骺异常, , +HP:0004000,Cone-shaped distal radial epiphysis ,桡骨远端锥形骨骺,The distal epiphysis (rounded portion of bone at the far end of the radius distal to the growth plate) has an abnormal cone-shaped appearance. ,校对中... +HP:0004002,Flattened radial epiphyses ,桡骨骨骺扁平, , +HP:0004019,Radial metaphyseal irregularity ,桡骨干骺端不规则,Irregularity of the normally smooth surface of the metaphysis of the radius. ,校对中... +HP:0004037,Abnormality of the ulnar epiphyses ,尺骨骨骺异常, , +HP:0004039,Abnormality of ulnar metaphysis ,尺骨干骺端异常, , +HP:0004042,Ulnar metaphyseal irregularity ,尺骨干骺端不规则,Irregularity of the normally smooth surface of the metaphysis of the ulna. ,校对中... +HP:0004050,Absent hand ,手缺如,"The total absence of the hand, with no bony elements distal to the radius or ulna. ",校对中... +HP:0004054,Sclerosis of hand bone ,手骨硬化症,Osteosclerosis affecting one or more bones of the hand. ,校对中... +HP:0004057,Mitten deformity ,连指手套状并指,"Fusion of the hands and feet by a thin membrane of skin (scarring) seen in forms of dystrophic epidermolysis bullosa and leading to a ""mitten"" hand deformity. ",校对中... +HP:0004058,Hand monodactyly ,独指手, , +HP:0004059,Radial club hand ,桡偏畸形手,Wrist is bent inward toward the thumb because of a congenital defect associated with shortening or absence of the radius. ,校对中... +HP:0004060,Trident hand ,三叉手,"A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. ",校对中... +HP:0004095,Curved fingers ,手指弯曲, , +HP:0004097,Deviation of finger ,手指偏离,"Deviated fingers is a term that should be used if one or more fingers of the hand are deviated from their normal position, either to the radial or ulnar side. A deviation of a finger can be caused by an abnormal form of one or more of the phalanges of the affected finger, or by a deviation or displacement of one or more phalanges. ",校对中... +HP:0004099,Macrodactyly ,巨指,Significant increase in the length and girth of most or all of a digit compared to its contralateral digit (if unaffected) or compared to what would be expected for age/body build. The increased girth is accompanied by an increase in the dorso-ventral dimension AND the lateral dimension of the digit. ,校对中... +HP:0004112,Midline nasal groove ,鼻中线浅沟,An abnormal groove on the midline of the nose that may extend to the nasal tip. ,校对中... +HP:0004122,Midline defect of the nose ,鼻中线缺陷,This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip. ,校对中... +HP:0004180,Short distal phalanx of the 3rd finger ,第三指末节指骨过短,Hypoplasia (congenital reduction in size) of the distal phalanx of the third finger. ,校对中... +HP:0004209,Clinodactyly of the 5th finger ,第五指屈指畸形,"Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). ",校对中... +HP:0004218,Symphalangism of the 5th finger ,第五指指关节融合,Fusion of two or more bones of the 5th finger. ,校对中... +HP:0004220,Short middle phalanx of the 5th finger ,第五指中节指骨短,Hypoplastic/small middle phalanx of the fifth finger. ,校对中... +HP:0004227,Short distal phalanx of the 5th finger ,第五指末节指骨短,Hypoplastic/small distal phalanx of the fifth finger. ,校对中... +HP:0004231,Carpal bone aplasia ,腕骨发育不全,Congenital absence of a carpal bone. ,校对中... +HP:0004232,Accessory carpal bones ,副腕骨,The presence of more than the normal number of carpal bones. ,校对中... +HP:0004233,Advanced ossification of carpal bones ,腕骨骨化过早,Ossification of carpal bones at an abnormally early age. ,校对中... +HP:0004236,Irregular carpal bones ,不规则腕骨,Carpal bones with irregular or fragmented margins. ,校对中... +HP:0004240,Sclerotic foci within carpal bones ,腕骨内硬化灶, , +HP:0004241,Stippled calcification in carpal bones ,腕骨点状钙化,Point-shaped (punctate) calcifications affecting the carpal bones. ,校对中... +HP:0004242,Broad carpal bones ,腕骨变宽, , +HP:0004243,Abnormality of the scaphoid ,舟骨异常, , +HP:0004252,Abnormality of the trapezium ,大多角骨异常,An anomaly of trapezium. ,校对中... +HP:0004267,Narrow small joints of the hand ,手的小关节狭窄, , +HP:0004268,Osteoarthritis of the small joints of the hand ,手的小关节的骨关节炎, , +HP:0004279,Short palm ,短掌,Short palm. ,校对中... +HP:0004280,Irregular ossification of hand bones ,手骨不规则骨化, , +HP:0004283,Narrow palm ,手掌狭窄,"For children from birth to 4 years of age, the palm width is more than 2 SD below the mean; for children from 4 to 16 years of age the palm width is below the 5th centile; or, the width of the palm appears disproportionately narrow for its length. ",校对中... +HP:0004288,Pseudoepiphyses of hand bones ,手骨假骨骺, , +HP:0004289,Sclerotic foci in hand bones ,手骨硬化灶, , +HP:0004295,Abnormality of the gastric mucosa ,胃粘膜异常,An abnormality of the gastric mucous membrane. ,校对中... +HP:0004298,Abnormality of the abdominal wall ,腹壁异常,The presence of any abnormality affecting the abdominal wall. ,校对中... +HP:0004299,Hernia of the abdominal wall ,腹壁疝,The presence of a hernia in the abdominal wall. ,校对中... +HP:0004302,Functional motor deficit ,功能性运动障碍, , +HP:0004303,Abnormal muscle fiber morphology ,肌纤维形态异常,"Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. ",校对中... +HP:0004305,Involuntary movements ,不自主运动,"Involuntary contractions of muscle leading to involuntary movements of extremities, neck, trunk, or face. ",校对中... +HP:0004306,Abnormal endocardium morphology ,心内膜形态异常,An abnormality of the endocardium. ,校对中... +HP:0004308,Ventricular arrhythmia ,室性心律失常, , +HP:0004309,Ventricular preexcitation ,心室预激,An abnormality in which the cardiac ventricles depolarize too early as a result of an abnormality of cardiac conduction pathways such as an accessory pathway. ,校对中... +HP:0004311,Abnormal macrophage morphology ,巨噬细胞形态异常,An abnormality of macrophages. ,校对中... +HP:0004312,Abnormal reticulocyte morphology ,网织红细胞形态异常,A reticulocyte abnormality. ,校对中... +HP:0004313,Decreased circulating antibody level ,循环抗体水平降低,An abnormally decreased level of immunoglobulin in blood. ,校对中... +HP:0004315,Decreased circulating IgG level ,循环IgG水平降低,An abnormally decreased level of immunoglobulin G (IgG) in blood. ,校对中... +HP:0004319,Decreased circulating aldosterone level ,醛固酮减少症,Abnormally reduced levels of aldosterone. ,校对中... +HP:0004320,Vaginal fistula ,阴道瘘,The presence of a fistula of the vagina. ,校对中... +HP:0004322,Short stature ,身材矮小,"A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to ""short stature"" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). ",校对中... +HP:0004324,Increased body weight ,体重增加,Abnormally increased body weight. ,校对中... +HP:0004325,Decreased body weight ,体重下降,Abnormally low body weight. ,校对中... +HP:0004326,Cachexia ,恶病质,"Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. ",校对中... +HP:0004327,Abnormal vitreous humor morphology ,玻璃体异常,Any structural anomaly of the vitreous body. ,校对中... +HP:0004330,Increased skull ossification ,颅骨骨化增加,An increase in the magnitude or amount of ossification of the skull. ,校对中... +HP:0004331,Decreased skull ossification ,颅骨骨化减少,A reduction in the magnitude or amount of ossification of the skull. ,校对中... +HP:0004332,Abnormal lymphocyte morphology ,淋巴细胞形态异常,An abnormality of lymphocytes. ,校对中... +HP:0004333,Bone-marrow foam cells ,骨髓泡沫细胞,"The presence of foam cells in the bone marrow, generally demonstrated by bone-marrow aspiration or biopsy. Foam cells have a vacuolated appearance due to the presence of complex lipid deposits, giving them a foamy or soap-suds appearance. ",校对中... +HP:0004334,Dermal atrophy ,皮肤萎缩,Partial or complete wasting (atrophy) of the skin. ,校对中... +HP:0004336,Myelin outfoldings ,髓鞘外折,The presence of excessive redundant myelin in the peripheral nerve sheath. ,校对中... +HP:0004337,Abnormality of amino acid metabolism ,氨基酸代谢异常,Abnormality of an amino acid metabolic process. ,校对中... +HP:0004341,Abnormality of vitamin B12 metabolism ,维生素B12代谢异常, , +HP:0004343,Abnormal glycosphingolipid metabolism ,鞘糖脂代谢异常,An abnormality of glycosphingolipid metabolism. ,校对中... +HP:0004345,Ganglioside accumulation ,神经节苷脂代谢异常,"Defects in the lysosomal glycosidases or specific co-activators, result in accumulation of the substrates, such as glycosphingolipids, including gangliosides in GM1 gangliosidosis (Tay-Sachs disease) and GM2 gangliosidosis (Sandhoff disease). ",校对中... +HP:0004347,Weakness of muscles of respiration ,呼吸肌无力,"Reduced function of the muscles required to generate subatmospheric pressure in the thoracic cavity during breathing: the diaphragm, the external intercostal and the interchondral part of the internal intercostal muscles. ",校对中... +HP:0004348,Abnormality of bone mineral density ,骨密度异常,"This term applies to all changes in bone mineral density which (depending on severity) can be seen on x-rays as a change in density and or structure of the bone. Changes may affect all bones of the organism, just certain bones or only parts of bones and include decreased mineralisation as may be seen in osteoporosis or increased mineralisation and or ossification as in osteopetrosis, exostoses or any kind of atopic calicfications of different origin and distribution. The overall amount of mineralization of the bone-organ can be measured as the amount of matter per cubic centimeter of bones, usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex). Note that measurement with this method does not reflect local changes in other bones, and as such might not be correct with regard the hole bone-organ. ",校对中... +HP:0004349,Reduced bone mineral density ,骨密度降低,"A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. ",校对中... +HP:0004354,Abnormal circulating carboxylic acid concentration ,羧酸代谢异常,Any deviation from the normal concentration of a carboxylic acid in the blood circulation. ,校对中... +HP:0004357,Abnormal circulating leucine concentration ,亮氨酸代谢异常,Any deviation from the normal circulation of leucine in the blood circulation. ,校对中... +HP:0004359,Abnormal circulating fatty-acid concentration ,脂肪酸代谢异常,A deviation from the normal concentration of a fatty acid in the blood circulation. ,校对中... +HP:0004361,Abnormality of circulating leptin level ,血瘦素水平异常,An abnormal concentration of leptin in the blood. ,校对中... +HP:0004362,Abnormality of enteric ganglion morphology ,肠神经节形态异常,"An abnormality of the enteric nervous system, which comprises two types of ganglia, the myenteric (Auerbach's) and submucosal (Meissner's) plexuses. The enteric nervous system functions to control gut movement, fluid exchange between the gut and its lumen, and local blood flow. ",校对中... +HP:0004365,Abnormal circulating tryptophan concentration ,色氨酸代谢异常,Any deviation from the normal concentration of tryptophan in the blood circulation. ,校对中... +HP:0004370,Abnormality of temperature regulation ,体温调节异常,An abnormality of temperature homeostasis. ,校对中... +HP:0004372,Reduced consciousness/confusion ,意识减弱/意识错乱, , +HP:0004373,Focal dystonia ,局限性肌张力障碍,A type of dystonia that is localized to a specific part of the body. ,校对中... +HP:0004374,Hemiplegia/hemiparesis ,偏瘫/轻偏瘫,"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength. ",校对中... +HP:0004375,Neoplasm of the nervous system ,神经系统的肿瘤,A tumor (abnormal growth of tissue) of the nervous system. ,校对中... +HP:0004377,Hematological neoplasm ,血液肿瘤,Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). ,校对中... +HP:0004378,Abnormality of the anus ,肛门异常,Abnormality of the anal canal. ,校对中... +HP:0004379,Abnormality of alkaline phosphatase level ,碱性磷酸酶活性异常,An abnormality of alkaline phosphatase level. ,校对中... +HP:0004380,Aortic valve calcification ,主动脉瓣钙化,Deposition of calcium salts in the aortic valve. ,校对中... +HP:0004381,Supravalvular aortic stenosis ,主动脉瓣上狭窄,A pathological narrowing in the region above the aortic valve associated with restricted left ventricular outflow. ,校对中... +HP:0004382,Mitral valve calcification ,二尖瓣钙化,Abnormal calcification of the mitral valve. ,校对中... +HP:0004383,Hypoplastic left heart ,左心发育不全,Underdevelopment of the left side of the heart. May include atresia of the aortic or mitral orifice and hypoplasia of the ascending aorta. ,校对中... +HP:0004385,Protracted diarrhea ,迁延性腹泻, , +HP:0004386,Gastrointestinal inflammation ,胃肠道炎症,Inflammation of the alimentary part of the gastrointestinal system. ,校对中... +HP:0004387,Enterocolitis ,小肠结肠炎,"An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine). ",校对中... +HP:0004388,Microcolon ,细小结肠,A colon of abnormally small caliber. ,校对中... +HP:0004389,Intestinal pseudo-obstruction ,假性肠梗阻,"A functional rather than mechanical obstruction of the intestines, associated with manifestations that resemble those caused by an intestinal obstruction, including distension, abdominal pain, nausea, vomiting, constipation or diarrhea, in an individual in whom a mechanical blockage has been excluded. ",校对中... +HP:0004390,Hamartomatous polyposis ,错构瘤性息肉病,"Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. ",校对中... +HP:0004392,Prune belly ,梅干腹,"A kind of congenital defect of the anterior abdominal wall in which the intestines are evident through the thin, lax, and protruding abdominal wall in affected infants. ",校对中... +HP:0004394,Multiple gastric polyps ,多发性胃息肉, , +HP:0004395,Malnutrition ,营养不良,A deficiency in the intake of energy and nutrients. ,校对中... +HP:0004396,Poor appetite ,食欲不振,A reduced desire to eat. ,校对中... +HP:0004397,Ectopic anus ,肛门异位,Abnormal displacement or malposition of the anus. ,校对中... +HP:0004398,Peptic ulcer ,消化性溃疡,An ulcer of the gastrointestinal tract. ,校对中... +HP:0004399,Congenital pyloric atresia ,先天性幽门闭锁,Congenital atresia of the pylorus. ,校对中... +HP:0004401,Meconium ileus ,胎粪性肠梗阻,Obstruction of the intestine due to abnormally thick meconium. ,校对中... +HP:0004405,Prominent nipples ,乳头凸出, , +HP:0004406,"Spontaneous, recurrent epistaxis ",复发性自发鼻衄, , +HP:0004407,Bony paranasal bossing ,骨性鼻翼突起, , +HP:0004408,Abnormality of the sense of smell ,嗅觉异常,An anomaly in the ability to perceive and distinguish scents (odors). ,校对中... +HP:0004409,Hyposmia ,嗅觉减退,"A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). ",校对中... +HP:0004411,Deviated nasal septum ,鼻中隔偏曲,Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum. ,校对中... +HP:0004414,Abnormality of the pulmonary artery ,肺动脉异常,An abnormality of the pulmonary artery. ,校对中... +HP:0004415,Pulmonary artery stenosis ,肺动脉狭窄,"An abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. ",校对中... +HP:0004416,Precocious atherosclerosis ,早发性动脉粥样硬化, , +HP:0004417,Intermittent claudication ,间歇性跛行,"Intermittent claudication is a symptom of peripheral arterial occlusive disease. After having walked over a distance which is individually characteristic, the patients experience pain or cramps in the calves, feet or thighs which typically subsides on standing still. ",校对中... +HP:0004418,Thrombophlebitis ,血栓性静脉炎,Inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). ,校对中... +HP:0004419,Recurrent thrombophlebitis ,复发性血栓性静脉炎,Repeated episodes of inflammation of a vein associated with venous thrombosis (blood clot formation within the vein). ,校对中... +HP:0004420,Arterial thrombosis ,动脉血栓形成,The formation of a blood clot inside an artery. ,校对中... +HP:0004421,Elevated systolic blood pressure ,收缩压升高,Abnormal increase in systolic blood pressure. ,校对中... +HP:0004422,Biparietal narrowing ,双侧顶骨部收窄,"A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull). ",校对中... +HP:0004423,Cranium bifidum occultum ,隐性颅裂, , +HP:0004425,Flat forehead ,额头扁平,A forehead with abnormal flatness. ,校对中... +HP:0004426,Abnormality of the cheek ,脸颊异常,"An abnormality of the cheek- one of two bilateral soft tissue facial structures in the region of the face inferior to the eyes and between the nose and the ear. ""Buccal"" means relating to the cheek. The cheek is part of the midface ",校对中... +HP:0004428,Elfin facies ,小精灵脸,"This is a description previously used to describe a facial form characterized by a short, upturned nose, wide mouth, widely spaced eyes, and full cheeks. Because of the imprecision in this definition it is preferable to describe these features precisely. This term is retained because it was often used in the past, but it should not be used for new annotations. ",校对中... +HP:0004429,Recurrent viral infections ,反复病毒感染,"Increased susceptibility to viral infections, as manifested by recurrent episodes of viral infection. ",校对中... +HP:0004430,Severe combined immunodeficiency ,重症联合免疫缺陷,A combined immunodeficiency primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. ,校对中... +HP:0004431,Complement deficiency ,补体缺陷,An immunodeficiency defined by the absent or suboptimal functioning of one of the complement system proteins. ,校对中... +HP:0004432,Agammaglobulinemia ,无丙种球蛋白血症,"A lasting absence of total IgG and total IgA and total IgM in the blood circulation, whereby at most trace quantities can be measured. ",校对中... +HP:0004433,Secretory IgA deficiency ,分泌型IgA缺乏症,"Deficiency of secretory IgA (polymers of 2-4 IgA monomers are linked by two additional chains) and is the primary antibody response at the mucosal level, where it forms immune complexes with pathogens and allergens. ",校对中... +HP:0004434,Decreased serum complement C8 ,血清补体C8降低,A reduced level of the complement component C8 in circulation. ,校对中... +HP:0004437,Cranial hyperostosis ,颅骨骨质增生,"Excessive growth of the bones of cranium, i.e., of the skull. ",校对中... +HP:0004438,Hyperostosis frontalis interna ,额骨内板增生症,Bony overgrowth of the internal (endosteal) surface of the frontal bone. ,校对中... +HP:0004439,Craniofacial dysostosis ,颅面骨发育不全,A characteristic appearance resulting from defective ossification of craniofacial bones. ,校对中... +HP:0004440,Coronal craniosynostosis ,冠状缝早闭,Premature closure of the coronal suture of skull. ,校对中... +HP:0004442,Sagittal craniosynostosis ,矢状缝早闭,A kind of craniosynostosis affecting the sagittal suture. ,校对中... +HP:0004443,Lambdoidal craniosynostosis ,人字缝早闭,A kind of craniosynostosis affecting the lambdoidal suture. ,校对中... +HP:0004444,Spherocytosis ,球形红细胞增多症,The presence of erythrocytes that are sphere-shaped. ,校对中... +HP:0004445,Elliptocytosis ,椭圆形红细胞增多症,"The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear. ",校对中... +HP:0004446,Stomatocytosis ,口形红细胞增多症,The presence of erythrocytes with a mouth-shaped (stoma) area of central pallor on peripheral blood smear. ,校对中... +HP:0004447,Poikilocytosis ,异形性红细胞,The presence of abnormally shaped erythrocytes. ,校对中... +HP:0004448,Fulminant hepatic failure ,暴发性肝衰竭,"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver. ",校对中... +HP:0004450,Preauricular skin furrow ,耳前皮肤皱褶,A groove of the skin immediately in front of the ear. ,校对中... +HP:0004451,Postauricular skin tag ,耳后皮赘,A rudimentary tag of ear tissue often containing a core of cartilage and located just in back of the auricle (outer part of the ear). ,校对中... +HP:0004452,Abnormality of the middle ear ossicles ,中耳听小骨异常,"An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea). ",校对中... +HP:0004453,Overfolding of the superior helices ,耳轮上部过度卷曲,A condition in which the superior portion of the helix is folded over to a greater degree than normal. ,校对中... +HP:0004454,Abnormal middle ear reflexes ,中耳反射异常, , +HP:0004458,Dilatated internal auditory canal ,内听道扩大,The presence of a dilated inner part of external acoustic meatus. ,校对中... +HP:0004459,Exostosis of the external auditory canal ,外耳道外生骨疣,A benign bony growth projecting outward from a bone surface within the external auditory canal. ,校对中... +HP:0004463,Absent brainstem auditory responses ,脑干听觉反应消失,Lack of measurable response to stimulation of auditory evoked potentials. ,校对中... +HP:0004464,Postauricular pit ,耳后凹陷,Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit. ,校对中... +HP:0004466,Prolonged brainstem auditory evoked potentials ,脑干听觉诱发电位延长, , +HP:0004467,Preauricular pit ,耳前凹陷,Small indentation anterior to the insertion of the ear. ,校对中... +HP:0004468,Anomalous tracheal cartilage ,气管软骨异常,"An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue). ",校对中... +HP:0004469,Chronic bronchitis ,慢性支气管炎,Chronic inflammation of the bronchi. ,校对中... +HP:0004471,Aplasia cutis congenita over the scalp vertex ,先天性头顶部表皮发育不全,"A developmental defect resulting in the congenital absence of skin on the scalp vertex, often just lateral to the midline. ",校对中... +HP:0004472,Mandibular hyperostosis ,下颌骨骨质增生,Hyperostosis (bony overgrowth) of the mandible. ,校对中... +HP:0004474,Persistent open anterior fontanelle ,前囟持续不闭合,The anterior fontanelle generally ossifies by around the 18th month of life. A persistent open anterior fontanelle is diagnosed if closure is delayed beyond this age. ,校对中... +HP:0004478,Ethmoidal encephalocele ,筛骨脑膨出, , +HP:0004481,Progressive macrocephaly ,渐进性大头畸形,The progressive development of an abnormally large skull. ,校对中... +HP:0004482,Relative macrocephaly ,相对大头畸形,"A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account. ",校对中... +HP:0004484,Craniofacial asymmetry ,颅面不对称,Asymmetry of the bones of the skull and the face. ,校对中... +HP:0004485,Cessation of head growth ,头部生长停滞,Stagnation of head growth seen as flattening of the head circumference curve. ,校对中... +HP:0004487,Acrobrachycephaly ,尖扁头畸形,"An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures. ",校对中... +HP:0004488,Macrocephaly at birth ,出生时巨头畸形,The presence of an abnormally large skull with onset at birth. ,校对中... +HP:0004490,Calvarial hyperostosis ,颅骨骨质增生,Excessive growth of the calvaria. ,校对中... +HP:0004491,Large posterior fontanelle ,大后囟,An enlargement of the posterior fontanelle relative to age-dependent norms. ,校对中... +HP:0004492,Widely patent fontanelles and sutures ,前囟及颅缝宽大,An abnormally increased width of the cranial fontanelles and sutures. ,校对中... +HP:0004493,Craniofacial hyperostosis ,颅面骨骨质增生,Excessive growth of the craniofacial bones. ,校对中... +HP:0004495,Thin anteverted nares ,薄而前仰的鼻孔, , +HP:0004499,Chronic rhinitis due to narrow nasal airway ,慢性狭窄性鼻炎, , +HP:0004502,Bilateral choanal atresia ,双侧后鼻孔闭锁,Bilateral absence (atresia) of the posterior nasal aperture (choana). ,校对中... +HP:0004510,Pancreatic islet-cell hyperplasia ,胰岛细胞增生,"Hyperplasia of the islets of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. ",校对中... +HP:0004523,Long eyebrows ,长眉,Increased length of the hairs of the eyebrows. ,校对中... +HP:0004524,Temporal hypotrichosis ,颞部少毛症,"Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull). ",校对中... +HP:0004527,Large clumps of pigment irregularly distributed along hair shaft ,沿发干不规则分布大片色素, , +HP:0004528,Generalized hypotrichosis ,泛发性少毛症,Reduced or lacking hair growth in a generalized distribution. ,校对中... +HP:0004529,"Atrophic, patchy alopecia ",萎缩性斑片状脱发, , +HP:0004532,Sacral hypertrichosis ,骶骨多毛症,"Excessive, increased hair growth located in the sacral region. ",校对中... +HP:0004540,"Congenital, generalized hypertrichosis ",先天性全身多毛症,"A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth. ",校对中... +HP:0004552,Scarring alopecia of scalp ,头皮瘢痕性脱发, , +HP:0004554,Generalized hypertrichosis ,泛发性多毛症,"Generalized excessive, abnormal hairiness. ",校对中... +HP:0004557,Anterior vertebral fusion ,椎体前缘融合, , +HP:0004558,Cervical platyspondyly ,扁平颈椎,A flattened vertebral body shape with reduced distance between the vertebral endplates affecting the cervical spine. ,校对中... +HP:0004562,Beaking of vertebral bodies T12-L3 ,T12-L3椎体鸟喙样改变, , +HP:0004563,Increased spinal bone density ,脊柱骨密度增加,Increased bone density affecting the bones of the spine (vertebral column). ,校对中... +HP:0004565,Severe platyspondyly ,重度扁平椎, , +HP:0004566,Pear-shaped vertebrae ,梨形椎骨,"Bulbous appearance of the anterior vertebral bodies, such that the vertebral bodies have the greatest vertical height anteriorly as well as bulbous anterior superior-inferior contours. ",校对中... +HP:0004568,Beaking of vertebral bodies ,椎体鸟喙样改变,Anterior tongue-like protrusions of the vertebral bodies. ,校对中... +HP:0004570,Increased vertebral height ,椎体高度增加,Increased top to bottom height of vertebral bodies. ,校对中... +HP:0004571,Widening of cervical spinal canal ,颈椎椎管增宽, , +HP:0004573,Anterior wedging of T11 ,胸11椎体前部楔形,An abnormality of the shape of the thoracic vertebra T11 such that it is wedge-shaped (narrow towards the front). ,校对中... +HP:0004576,Sclerotic vertebral endplates ,椎体终板硬化,Sclerosis (increased density) affecting vertebral end plates. ,校对中... +HP:0004582,Irregularity of vertebral bodies ,椎体不规则, , +HP:0004586,Biconcave vertebral bodies ,双凹椎体,"Exaggerated concavity of the anterior or posterior surface of the vertebral body, i.e., the upper and lower vertebral endplates are hollowed inward. ",校对中... +HP:0004590,Hypoplastic sacrum ,骶骨发育不全, , +HP:0004591,Disc-like vertebral bodies ,盘碟状椎体, , +HP:0004592,Thoracic platyspondyly ,扁平胸椎,A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the thoracic spine. ,校对中... +HP:0004594,Hump-shaped mound of bone in central and posterior portions of vertebral endplate ,椎体终板中后部骨质驼峰状凸起, , +HP:0004598,Supernumerary vertebral ossification centers ,额外椎体骨化中心,"Three ossification sites are present in typical vertebral bodies (C3-L5): a single ossification center in the vertebral body, and one each in the two neural arches. This term applies if there are additional vertebral ossification centers present during the development and maturation of the spine. ",校对中... +HP:0004599,Absent or minimally ossified vertebral bodies ,椎体缺如或低骨化, , +HP:0004602,Cervical C2/C3 vertebral fusion ,颈C2/C3椎体融合,"Fusion of cervical vertebrae at C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine. ",校对中... +HP:0004603,Hyperconvex vertebral body endplates ,椎体终板过度突出, , +HP:0004605,Absent vertebral body mineralization ,椎体矿化缺如,A lack of bone mineralization of the vertebral bodies. ,校对中... +HP:0004606,Unossified vertebral bodies ,椎体未骨化,A lack of ossification of the vertebral bodies. ,校对中... +HP:0004607,Anterior beaking of lower thoracic vertebrae ,胸椎下部前缘鸟喙样凸出,Anterior tongue-like protrusions of the lower thoracic vertebral bodies. ,校对中... +HP:0004608,Anteriorly placed odontoid process ,齿状突前置,Anterior mislocalization of the dens of the axis. ,校对中... +HP:0004611,Anterior concavity of thoracic vertebrae ,胸椎前凹, , +HP:0004616,Cleft vertebral arch ,椎弓裂,"A discontinuity of the vertebral arch, i.e., of the posterior part of a vertebra. ",校对中... +HP:0004617,Butterfly vertebral arch ,蝴蝶椎弓,Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends. ,校对中... +HP:0004618,Sandwich appearance of vertebral bodies ,三明治样椎体, , +HP:0004619,Lumbar kyphoscoliosis ,腰椎后侧凸, , +HP:0004621,Enlarged vertebral pedicles ,椎弓膨大,Increased size of the vertebral pedicle. ,校对中... +HP:0004622,Progressive intervertebral space narrowing ,椎间隙渐进性变窄,A progressive form of decreased height of the intervertebral disk. ,校对中... +HP:0004625,Biconvex vertebral bodies ,双凸椎体,"Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates. ",校对中... +HP:0004626,Lumbar scoliosis ,腰椎侧凸, , +HP:0004629,Small cervical vertebral bodies ,颈椎椎体小,Reduced size of cervical vertebrae. ,校对中... +HP:0004630,Anterior beaking of thoracic vertebrae ,胸椎前缘鸟喙样凸出,Anterior tongue-like protrusions of thoracic vertebral bodies. ,校对中... +HP:0004631,Decreased cervical spine flexion due to contractures of posterior cervical muscles ,颈后肌群挛缩致颈椎屈度下降, , +HP:0004632,Cervical segmentation defect ,颈椎分节缺陷,An abnormality related to a defect of vertebral separation of cervical vertebrae during development. ,校对中... +HP:0004633,Lower thoracic kyphosis ,下胸椎后凸,"Over curvature of the lower thoracic region, leading to a round back or if sever to a hump. ",校对中... +HP:0004634,Cuboid-shaped vertebral bodies ,立方体形椎体, , +HP:0004635,Cervical C5/C6 vertebrae fusion ,颈椎C5/C6椎骨融合,Fusion of the C5 and C6 cervical vertebrae. ,校对中... +HP:0004637,Decreased cervical spine mobility ,颈椎活动度下降, , +HP:0004639,Elevated amniotic fluid alpha-fetoprotein ,羊水甲胎蛋白升高,An elevation of alpha-feto protein measured in the amniotic fluid. ,校对中... +HP:0004646,Hypoplasia of the nasal bone ,鼻骨发育不全,Underdevelopment of the nasal bone. ,校对中... +HP:0004660,Hypoplasia of facial musculature ,面部肌肉发育不全,Underdevelopment of one or more muscles innervated by the facial nerve (the seventh cranial nerve). ,校对中... +HP:0004661,Frontalis muscle weakness ,额肌乏力,Reduced strength of the frontalis muscle (which is located on the forehead). ,校对中... +HP:0004664,Facial midline hemangioma ,面中线血管瘤,"Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face. ",校对中... +HP:0004673,Decreased facial expression ,面部表情减少,A reduced degree of voluntary and involuntary facial movements involved in responded to others or expressing emotions. ,校对中... +HP:0004676,Prominent supraorbital arches in adult ,成人眉弓突出, , +HP:0004679,Large tarsal bones ,大跗骨, , +HP:0004681,Deep longitudinal plantar crease ,跖部深在皱褶纵向分布,"Narrow, paramedian longitudinal depressions in the plantar skin of the forefoot. ",校对中... +HP:0004684,Talipes valgus ,马蹄外翻足,"Outward turning of the heel, resulting in clubfoot with the person walking on the inner part of the foot. ",校对中... +HP:0004686,Short third metatarsal ,第三跖骨过短,Underdevelopment of the Third metatarsal bone leading to a short (hypoplastic) third metatarsal bone. ,校对中... +HP:0004688,Irregular tarsal bones ,不规则的跗骨, , +HP:0004689,Short fourth metatarsal ,第四跖骨短,Short fourth metatarsal bone. ,校对中... +HP:0004690,Thickened Achilles tendon ,跟腱增厚,An abnormal thickening of the Achilles tendon. ,校对中... +HP:0004691,2-3 toe syndactyly ,第二、三脚趾并趾,Syndactyly with fusion of toes two and three. ,校对中... +HP:0004692,4-5 toe syndactyly ,第四、五脚趾并趾,Syndactyly with fusion of toes four and five. ,校对中... +HP:0004695,Calcaneal epiphyseal stippling ,跟骨骨骺点状钙化,"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the calcaneus. ",校对中... +HP:0004696,Talipes cavus equinovarus ,马蹄内翻足高弓畸形, , +HP:0004704,Short fifth metatarsal ,第五跖骨过短,Short (hypoplastic) fifth metatarsal bone. ,校对中... +HP:0004712,Renal malrotation ,肾旋转不良,An abnormality of the normal developmental rotation of the kidney leading to an abnormal orientation of the kidney. ,校对中... +HP:0004717,Axial malrotation of the kidney ,肾轴向旋转异常,An abnormality of the normal developmental rotation of the kidney leading to an abnormal axial orientation of the kidney. ,校对中... +HP:0004719,Hyperechogenic kidneys ,肾脏回声增强,"An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal. ",校对中... +HP:0004722,Thickened glomerular basement membrane ,肾小球基底膜增厚,"Prominent glomerular basement membrane (GBM), reflecting an increase in thickness (subjective estimate) of the basal lamina of the glomerulus of the kidney. ",校对中... +HP:0004724,Calcium nephrolithiasis ,钙性肾结石,The presence of calcium-containing calculi (stones) in the kidneys. ,校对中... +HP:0004727,Impaired renal concentrating ability ,肾浓缩功能障碍,A defect in the ability to concentrate the urine. ,校对中... +HP:0004732,Impaired renal uric acid clearance ,肾尿酸廓清障碍,A reduction in the ability of the kidneys to remove uric acid from the serum. ,校对中... +HP:0004734,Renal cortical microcysts ,肾皮质微小囊肿,Cysts of microscopic size confined to the cortex of the kidney. ,校对中... +HP:0004736,Crossed fused renal ectopia ,融合肾移向一侧,A developmental anomaly in which the kidneys are fused and localized on the same side of the midline. This anomaly is thought to result from disruption of the normal embryologic migration of the kidneys. ,校对中... +HP:0004737,Global glomerulosclerosis ,完全性肾小球硬化症,"Obliteration of the glomerular capillary lumen by increased collagenous matrix, with or without hyalinosis or foam cells. Sclerosis involves 100% of the glomerular tuft. Relative to other patent glomeruli in the sample, glomerular size is preserved, or increased/decreased by no more than 50%. ",校对中... +HP:0004742,Abnormal renal collecting system morphology ,肾集合系统形态异常,An abnormality of the renal collecting system. ,校对中... +HP:0004743,Chronic tubulointerstitial nephritis ,慢性肾小管间质性肾炎,Chronic inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules. ,校对中... +HP:0004746,Glomerular subendothelial electron-dense deposits ,肾小球内皮下电子致密沉积物,"Electron dense deposits at the glomerular basement membrane, ",校对中... +HP:0004749,Atrial flutter ,心房扑动,"A type of atrial arrhythmia characterized by atrial rates of between 240 and 400 beats per minute and some degree of atrioventricular node conduction block. Typically, the ventricular rate is half the atrial rate. In the EKG; atrial flutter waves are observed as sawtooth-like atrial activity. Pathophysiologically, atrial flutter is a form of atrial reentry in which there is a premature electrical impulse creates a self-propagating circuit. ",校对中... +HP:0004751,Paroxysmal ventricular tachycardia ,阵发性室性心动过速,Episodes of ventricular tachycardia that have a sudden onset and ending. ,校对中... +HP:0004754,Permanent atrial fibrillation ,永久性心房颤动,"AF that cannot be successfully terminated by cardioversion, and longstanding (more than 1 year) AF, where cardioversion is not indicated or has not been attempted, is termed permanent. ",校对中... +HP:0004755,Supraventricular tachycardia ,室上性心动过速,Supraventricular tachycardia (SVT) is an abnormally increased heart rate (over 100 beats per minute at rest) with origin above the level of the ventricles. ,校对中... +HP:0004756,Ventricular tachycardia ,室性心动过速,A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). ,校对中... +HP:0004757,Paroxysmal atrial fibrillation ,阵发性房颤,Episodes of atrial fibrillation that typically last for several hours up to one day and terminate spontaneously. ,校对中... +HP:0004758,Effort-induced polymorphic ventricular tachycardia ,劳力诱导型多形性室性心动过速,Polymorphic ventricular arrhythmias of varying morphologythat do not exist under resting conditions but appear only upon physical exercise or catecholamine administration. ,校对中... +HP:0004761,Post-angioplasty coronary artery restenosis ,血管成形术后冠状动脉再狭窄, , +HP:0004762,Hypoplasia of right ventricle ,右心室发育不全,"Underdevelopment or reduced size of the heart right ventricle, often due to a reduced number of cells. ",校对中... +HP:0004763,Paroxysmal supraventricular tachycardia ,阵发性室上性心动过速,An episodic form of supraventricular tachycardia with abrupt onset and termination. ,校对中... +HP:0004764,Myxomatous mitral valve degeneration ,黏液瘤样二尖瓣退行性变,"Myxomatous mitral valve is defined as the presence of excess leaflet tissue and leaflet thickening greater than 5 mm, resulting in a prolapse greater than 2 mm into the left atrium on parasternal long axis view. ",校对中... +HP:0004768,Sparse anterior scalp hair ,前发稀疏,Decreased number of head hairs per unit area on the anterior region of the scalp. ,校对中... +HP:0004771,Premature graying of body hair ,体毛过早变白, , +HP:0004779,Brittle scalp hair ,头发干枯,"Fragile, easily breakable scalp hair. ",校对中... +HP:0004783,Duodenal polyposis ,十二指肠息肉,Presence of multiple polyps in the duodenum. ,校对中... +HP:0004784,Juvenile gastrointestinal polyposis ,幼年性胃肠息肉病,The presence of multiple juvenile polyps in the stomach and intestine. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. Juvenile polyps are a specific type of hamartomatous polyps. ,校对中... +HP:0004785,Malrotation of colon ,结肠旋转不良,An anatomical anomaly that results from an abnormal rotation of the gut as it returns to the abdominal cavity during embryogenesis. ,校对��... +HP:0004787,Fulminant hepatitis ,暴发性肝炎,Acute hepatitis complicated by acute liver failure with hepatic encephalopathy occurring less than 8 weeks after the onset of jaundice. ,校对中... +HP:0004789,Lactose intolerance ,乳糖不耐受,An inability to digest lactose. ,校对中... +HP:0004791,Esophageal ulceration ,食管溃疡,"Defect in the epithelium of the esophagus, essentially an open sore in the lining of the esophagus. ",校对中... +HP:0004792,Rectoperineal fistula ,直肠会阴瘘,The presence of a fistula between the perineum and the rectum. ,校对中... +HP:0004794,Malrotation of small bowel ,小肠旋转不良,A deviation from the normal rotation of the midgut during embryologic development with mislocalization of the small bowel. ,校对中... +HP:0004795,Hamartomatous stomach polyps ,错构瘤性胃息肉,Polyp-like protrusions which are histologically hamartomas located in the stomach. ,校对中... +HP:0004796,Gastrointestinal obstruction ,胃肠道梗阻, , +HP:0004798,Recurrent infection of the gastrointestinal tract ,胃肠道复发性感染,Recurrent infection of the gastrointestinal tract. ,校对中... +HP:0004802,Episodic hemolytic anemia ,阵发性溶血性贫血,A form of hemolytic anemia that occurs in repeated episodes. ,校对中... +HP:0004804,Congenital hemolytic anemia ,先天性溶血性贫血,A form of hemolytic anemia with congenital onset. ,校对中... +HP:0004808,Acute myeloid leukemia ,急性髓性白血病,A form of leukemia characterized by overproduction of an early myeloid cell. ,校对中... +HP:0004809,Neonatal alloimmune thrombocytopenia ,新生儿同种免疫性血小板减少症,Low platelet count associated with maternal platelet-specific alloantibodies. ,校对中... +HP:0004810,Congenital hypoplastic anemia ,先天性发育不良性贫血,A type of hypoplastic anemia with congenital onset. ,校对中... +HP:0004814,Fava bean-induced hemolytic anemia ,蚕豆诱发性溶血性贫血,A kind of hemolytic anemia that is induced by the ingestion of fava beans. ,校对中... +HP:0004817,Drug-sensitive hemolytic anemia ,药物敏感溶血性贫血,A form of hemolytic anemia that is triggered by ingestion of certain drugs. ,校对中... +HP:0004818,Paroxysmal nocturnal hemoglobinuria ,阵发性睡眠性血红蛋白尿症, , +HP:0004819,Normocytic hypoplastic anemia ,正细胞发育不良性贫血,A type of hypoplastic anemia in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits). ,校对中... +HP:0004820,Acute myelomonocytic leukemia ,急性粒单核细胞白血病,An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. ,校对中... +HP:0004821,Hypersegmentation of neutrophil nuclei ,中性粒细胞核分叶过度,An excessive division of the lobes of the nucleus of a neutrophil. ,校对中... +HP:0004823,Anisopoikilocytosis ,异形红细胞增多症,A type of poikilocytosis characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes. ,校对中... +HP:0004826,Folate-unresponsive megaloblastic anemia ,叶酸无反应型巨幼细胞性贫血,"A type of megaloblastic anemia that does not improve upon administration of folate. Since vitamin B12 acts by promoting recycling of folate, administration of vitamin B12 also does not improve this type of anemia. ",校对中... +HP:0004828,Refractory anemia with ringed sideroblasts ,难治性贫血伴环状铁粒幼红细胞,"A type of myelodysplastic syndrome characterized by less than 5% myeloblasts in the bone marrow, but with 15% or greater red cell precursors in the marrow being abnormal iron-stuffed cells called ringed sideroblasts. ",校对中... +HP:0004831,Recurrent thromboembolism ,复发性血栓栓塞,"Repeated episodes of obstruction of blood flow due to an embolus, i.e., blood clot that has traveled from its point of origin within the blood stream. ",校对中... +HP:0004835,Microspherocytosis ,小球红细胞增多症,The presence of erythrocytes that are sphere-shaped and reduced in size. ,校对中... +HP:0004836,Acute promyelocytic leukemia ,急性早幼粒细胞白血病,A type of acute myeloid leukemia in which abnormal promyelocytes predominate. ,校对中... +HP:0004839,Pyropoikilocytosis ,热异形红细胞增多症,A form of severe hemolytic anemia characterized by erythrocyte morphology reminiscent of that seen in patients after a thermal burn. ,校对中... +HP:0004840,Hypochromic microcytic anemia ,低色素性小红细胞性贫血,A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. ,校对中... +HP:0004841,Reduced factor XII activity ,凝血因子XII活性减低,"Decreased activity of coagulation factor XII. Factor XII (fXII) is part of the intrinsic coagulation pathway and binds to exposed collagen at site of vessel wall injury, activated by high-MW kininogen and kallikrein, thereby initiating the coagulation cascade. ",校对中... +HP:0004844,Coombs-positive hemolytic anemia ,Coombs试验阳性溶血性贫血,A type of hemolytic anemia in which the Coombs test is positive. ,校对中... +HP:0004845,Acute monocytic leukemia ,急性单核细胞白血病,"The accumulation of transformed primitive hematopoietic blast cells, which lose their ability of normal differentiation and proliferation. ",校对中... +HP:0004846,Prolonged bleeding after surgery ,手术后出血时间延长,Bleeding that persists longer than the normal time following a surgical procedure. ,校对中... +HP:0004848,Ph-positive acute lymphoblastic leukemia ,Ph染色体阳性急性淋巴细胞白血病,"A subset of acute lymphoblastic leukemia that results from a reciprocal translocation between the ABL-1 oncogene and a breakpoint cluster region (BCR), resulting in a fusion gene, BCR-ABL, that encodes an oncogenic protein with constitutively active tyrosine kinase activity. ",校对中... +HP:0004850,Recurrent deep vein thrombosis ,复发性深静脉血栓形成,Repeated episodes of the formation of a blot clot in a deep vein. ,校对中... +HP:0004851,Folate-responsive megaloblastic anemia ,叶酸反应型巨幼细胞性贫血,"A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of folate. ",校对中... +HP:0004852,Reduced leukocyte alkaline phosphatase ,白细胞碱性磷酸酶减少,Decreased alkaline phosphatase measured within leukocytes. ,校对中... +HP:0004854,Intermittent thrombocytopenia ,间歇性血小板减少症,"Reduced platelet count that occurs sporadically, i.e., it comes and goes. ",校对中... +HP:0004855,Reduced protein S activity ,蛋白S活性减低,An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein S. Protein S is a cofactor of protein C. ,校对中... +HP:0004856,Normochromic microcytic anemia ,小细胞正色素性贫血,A type of anemia characterized by an normal concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes. ,校对中... +HP:0004859,Amegakaryocytic thrombocytopenia ,巨核细胞缺乏性血小板减少症,Thrombocytopenia related to lack of or severe reduction in the count of megakaryocytes. ,校对中... +HP:0004860,Thiamine-responsive megaloblastic anemia ,硫胺素反应性巨幼细胞性贫血,"A type of megaloblastic anemia (i.e., anemia characterized by the presence of erythroblasts that are larger than normal) that improves upon the administration of thiamine. ",校对中... +HP:0004861,Refractory macrocytic anemia ,难治性大细胞性贫血, , +HP:0004863,Compensated hemolytic anemia ,代偿性溶血性贫血, , +HP:0004866,Impaired ADP-induced platelet aggregation ,ADP诱导的血小板聚集障碍,Abnormal platelet response to ADP as manifested by reduced or lacking aggregation of platelets upon addition of ADP. ,校对中... +HP:0004870,Chronic hemolytic anemia ,慢性溶血性贫血,An chronic form of hemolytic anemia. ,校对中... +HP:0004871,Perineal fistula ,会阴瘘,The presence of a fistula between the bowel and the perineum. ,校对中... +HP:0004872,Incisional hernia ,切口疝,An abdominal hernia that occurs at a site of weakness in the abdominal wall resulting from an incompletely-healed surgical wound. ,校对中... +HP:0004875,Neonatal inspiratory stridor ,新生儿吸气性喘鸣, , +HP:0004876,Spontaneous neonatal pneumothorax ,新生儿自发性气胸,Pneumothorax occurring neonatally without traumatic injury to the chest or lung. ,校对中... +HP:0004878,Intercostal muscle weakness ,肋间肌无力,"Lack of strength of the intercostal muscles, i.e., of the muscle groups running along the ribs that create and move the chest wall. ",校对中... +HP:0004879,Intermittent hyperventilation ,间歇性过度通气,Episodic hyperventilation. ,校对中... +HP:0004885,Episodic respiratory distress ,阵发性呼吸窘迫, , +HP:0004886,Congenital laryngeal stridor ,先天性喉喘鸣, , +HP:0004887,Respiratory failure requiring assisted ventilation ,呼吸衰竭，需要辅助通气,A state of respiratory distress that requires a life saving intervention in the form of gaining airway access and instituting positive pressure ventilation. ,校对中... +HP:0004889,Intermittent episodes of respiratory insufficiency due to muscle weakness ,肌无力所致的间歇性呼吸功能不全发作, , +HP:0004890,Elevated pulmonary artery pressure ,肺动脉压升高,An abnormally elevated blood pressure in the circulation of the pulmonary artery. ,校对中... +HP:0004891,Recurrent infections due to aspiration ,误吸造成反复感染,"Increased susceptibility to infections due to aspiration, as manifested by recurrent episodes of infections due to aspiration. ",校对中... +HP:0004894,Laryngotracheal stenosis ,喉气管狭窄, , +HP:0004897,Stress/infection-induced lactic acidosis ,应激/感染诱发的乳酸酸中毒,A form of lactic acidemia that occurs in relation to stress or infection. ,校对中... +HP:0004900,Severe lactic acidosis ,重度乳酸酸中毒,A severe form of lactic acidemia. ,校对中... +HP:0004901,Exercise-induced lactic acidemia ,运动诱发的乳酸血症,A form of lactic acidemia that occurs following exercise or exertion. ,校对中... +HP:0004902,Congenital lactic acidosis ,先天性乳酸酸中毒,A form of lactic acidemia with congenital onset. ,校对中... +HP:0004904,Maturity-onset diabetes of the young ,青少年发病的成人型糖尿病,"The term Maturity-onset diabetes of the young (MODY) was initially used for patients diagnosed with fasting hyperglycemia that could be treated without insulin for more than two years, where the initial diagnosis was made at a young age (under 25 years). Thus, MODY combines characteristics of type 1 diabetes (young age at diagnosis) and type 2 diabetes (less insulin dependence than type 1 diabetes). The term MODY is now most often used to refer to a group of monogenic diseases with these characteristics. Here, the term is used to describe hyperglycemia diagnosed at a young age with no or minor insulin dependency, no evidence of insulin resistence, and lack of evidence of autoimmune destruction of the beta cells. ",校对中... +HP:0004905,Low levels of vitamin A ,维生素A缺乏症,A reduced concentration of vitamin A. ,校对中... +HP:0004906,Hypernatremic dehydration ,高钠脱水, , +HP:0004909,Hypokalemic hypochloremic metabolic alkalosis ,低钾低氯性代谢性碱中毒, , +HP:0004910,Bicarbonate-wasting renal tubular acidosis ,碳酸氢盐流失性肾小管酸中毒, , +HP:0004911,Episodic metabolic acidosis ,阵发性代谢性酸中毒,"Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids. ",校对中... +HP:0004912,Hypophosphatemic rickets ,低磷性佝偻病, , +HP:0004913,Intermittent lactic acidemia ,间歇性乳酸血症,An intermittent (discontinuous) form of lactic acidemia. ,校对中... +HP:0004914,Recurrent infantile hypoglycemia ,婴儿反复发作性低血糖,Recurrent episodes of decreased concentration of glucose in the blood occurring during the infantile period. ,校对中... +HP:0004915,Impairment of galactose metabolism ,半乳糖代谢障碍,An impairment of galactose metabolism. ,校对中... +HP:0004916,Generalized distal tubular acidosis ,远端肾小管性酸中毒, , +HP:0004918,Hyperchloremic metabolic acidosis ,高氯性代谢性酸中毒,A form of metabolic acidosis with increased serum chloride levels. ,校对中... +HP:0004919,Galactose intolerance ,半乳糖不耐受, , +HP:0004923,Hyperphenylalaninemia ,高苯丙氨酸血症,An increased concentration of L-phenylalanine in the blood. ,校对中... +HP:0004924,Abnormal oral glucose tolerance ,口服葡萄糖耐量异常,"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral administration of glucose. ",校对中... +HP:0004925,Chronic lactic acidosis ,慢性乳酸酸中毒,A chronic form of lactic acidemia. ,校对中... +HP:0004926,Orthostatic hypotension due to autonomic dysfunction ,自主神经功能障碍性体位性低血压, , +HP:0004927,Pulmonary artery dilatation ,肺动脉扩张,An abnormal widening of the diameter of the pulmonary artery. ,校对中... +HP:0004930,Abnormality of the pulmonary vasculature ,肺血管异常, , +HP:0004931,Arteriosclerosis of small cerebral arteries ,脑小动脉硬化,"Arteriosclerosis (increased thickness, increased stiffness, loss of elasticity) of the small arteries of the brain. ",校对中... +HP:0004933,Ascending aortic dissection ,升主动脉夹层,A separation of the layers within the wall of the ascending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. ,校对中... +HP:0004934,Vascular calcification ,血管钙化,Abnormal calcification of the vasculature. ,校对中... +HP:0004935,Pulmonary artery atresia ,肺动脉闭锁,A congenital anomaly with a narrowing or complete absence of the opening between the right ventricle and the pulmonary artery. ,校对中... +HP:0004936,Venous thrombosis ,静脉血栓形成,"Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. ",校对中... +HP:0004937,Pulmonary artery aneurysm ,肺动脉瘤,An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery. ,校对中... +HP:0004938,Tortuous cerebral arteries ,脑动脉迂曲,"Excessive bending, twisting, and winding of a cerebral artery. ",校对中... +HP:0004940,Generalized arterial calcification ,周身动脉钙化,"Calcification, that is, pathological deposition of calcium salts, affecting arteries distributed throughout the body. ",校对中... +HP:0004942,Aortic aneurysm ,主动脉瘤,"Aortic dilatation refers to a dimension that is greater than the 95th percentile for the normal person age, sex and body size. In contrast, an aneurysm is defined as a localized dilation of the aorta that is more than 150 percent of predicted (ratio of observed to expected diameter 1.5 or more). Aneurysm should be distinguished from ectasia, which represents a diffuse dilation of the aorta less than 50 percent of normal aorta diameter. ",校对中... +HP:0004943,Accelerated atherosclerosis ,加速性动脉粥样硬化,"Atherosclerosis which occurs in a person with certain risk factors (e.g., SLE, diabetes, smoking, hypertension, hypercholesterolaemia, family history of early heart disease) at an earlier age than would occur in another person without those risk factors. ",校对中... +HP:0004944,Dilatation of the cerebral artery ,脑动脉扩张,The presence of a localized dilatation or ballooning of a cerebral artery. ,校对中... +HP:0004947,Arteriovenous fistula ,动静脉瘘,An abnormal connection between an artery and vein. ,校对中... +HP:0004948,Vascular tortuosity ,血管迂曲,Abnormal twisting of arteries or veins. ,校对中... +HP:0004950,Peripheral arterial stenosis ,外周动脉狭窄,"Narrowing of peripheral arteries with reduction of blood flow to the limbs. This feature may be quantified as an ankle-brachial index of less than 0.9, and may be manifested clinically as claudication. ",校对中... +HP:0004955,Generalized arterial tortuosity ,周身动脉迂曲,"Abnormal tortuous (i.e., twisted) form of arteries affecting most or all arteries. ",校对中... +HP:0004959,Descending thoracic aorta aneurysm ,胸降主动脉动脉瘤,An abnormal localized widening (dilatation) of the descending thoracic aorta. ,校对中... +HP:0004960,Absent pulmonary artery ,肺动脉缺失,A congenital defect with aplasia (absence) of one of the right or left pulmonary artery. ,校对中... +HP:0004961,Pulmonary artery sling ,肺动脉吊带,"An anomalous origin of the left pulmonary artery, such that it arises from the posterior aspect of the right pulmonary artery and passes between the trachea and esophagus to reach the left hilum. ",校对中... +HP:0004962,Thoracic aorta calcification ,胸主动脉钙化,An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall in the thoracic aorta. ,校对中... +HP:0004963,Calcification of the aorta ,主动脉钙化,"Calcification, that is, pathological deposition of calcium salts in the aorta. ",校对中... +HP:0004964,Pulmonary arterial medial hypertrophy ,肺动脉中膜肥厚,Increase in mass of the tunica media of the arteries in the pulmonary circulation. ,校对中... +HP:0004966,Medial calcification of large arteries ,大动脉中层钙化,"Calcification, that is, pathological deposition of calcium salts in the tunica media of large (conduit) arteries. ",校对中... +HP:0004968,Recurrent cerebral hemorrhage ,复发性脑出血,Recurrent bleeding into the parenchyma of the brain. ,校对中... +HP:0004969,Peripheral pulmonary artery stenosis ,周围肺动脉狭窄,Stenosis of a peripheral branch of the pulmonary artery. ,校对中... +HP:0004970,Ascending tubular aorta aneurysm ,生主动脉动脉瘤,An abnormal localized widening (dilatation) of the tubular part of the ascending aorta. ,校对中... +HP:0004971,Pulmonary artery hypoplasia ,肺动脉发育不全,Underdevelopment of the pulmonary artery. ,校对中... +HP:0004972,Elevated mean arterial pressure ,平均动脉压升高,An abnormal increase in the average blood pressure in an individual during a single cardiac cycle. ,校对中... +HP:0004975,Erlenmeyer flask deformity of the femurs ,股骨锥形瓶状变形,Flaring of distal femur. ,校对中... +HP:0004976,Knee dislocation ,膝关节脱位, , +HP:0004977,Bilateral radial aplasia ,双侧桡骨发育不全,Missing radius bone on both sides associated with congenital failure of development. ,校对中... +HP:0004979,Metaphyseal sclerosis ,干骺端硬化,Abnormally increased density of metaphyseal bone. ,校对中... +HP:0004980,Metaphyseal rarefaction ,干骺端疏松,Reduction in density of metaphyseal bony tissue. ,校对中... +HP:0004981,Prominent styloid process of ulna ,尺骨茎突突出, , +HP:0004987,Mesomelic leg shortening ,腿中段缩短,Shortening of the middle parts of the leg in relation to the upper and terminal segments. ,校对中... +HP:0004991,Rhizomelic arm shortening ,肢根型手臂缩短,Disproportionate shortening of the proximal segment of the arm (i.e. the humerus). ,校对中... +HP:0004993,Slender long bones with narrow diaphyses ,长骨细长伴骨干狭窄,Reduced diameter of a long bone with a more pronounced reduction of the diameter of the diaphysis of the long bones. ,校对中... +HP:0004997,Multicentric ossification of proximal humeral epiphyses ,肱骨近端骨骺多中心骨化, , +HP:0005001,Recurrent patellar dislocation ,复发性髌骨脱位,Patellar dislocation occurring repeated times. ,校对中... +HP:0005003,Aplasia/Hypoplasia of the capital femoral epiphysis ,股骨头骨骺发育不���/发育不全,Absence or underdevelopment of the proximal epiphysis of the femur. ,校对中... +HP:0005005,"Femoral bowing present at birth, straightening with time ",出生时股骨有弯曲，随年龄增长而变直,Congenital onset bending or abnormal curvature of the femur that normalizes with age. ,校对中... +HP:0005008,Large joint dislocations ,大关节脱位, , +HP:0005010,Osteomyelitis leading to amputation due to slow healing fractures ,因骨折愈合缓慢导致截肢的骨髓炎, , +HP:0005011,Mesomelic arm shortening ,臂中段缩短,Shortening of the middle parts of the arm in relation to the upper and terminal segments. ,校对中... +HP:0005017,Polyarticular chondrocalcinosis ,多关节软骨钙质沉着病, , +HP:0005019,Diaphyseal thickening ,骨干增粗, , +HP:0005021,Bilateral elbow dislocations ,双侧肘关节脱臼, , +HP:0005025,Hypoplastic distal humeri ,肱骨远端发育不良,Underdevelopment of the distal portion of the humerus. ,校对中... +HP:0005026,Mesomelic/rhizomelic limb shortening ,肢体中部/根部短缩, , +HP:0005028,Widened proximal tibial metaphyses ,胫骨近端干骺端增宽, , +HP:0005033,Distal ulnar hypoplasia ,尺骨远端发育不良,Underdevelopment of the distal portion of the ulna. ,校对中... +HP:0005035,Shortening of all phalanges of the toes ,全部趾骨缩短,Developmental hypoplasia (shortening) of all phalanges of the foot. ,校对中... +HP:0005037,Proximal radio-ulnar synostosis ,近端桡尺骨性愈合,An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna. ,校对中... +HP:0005039,Multiple long-bone exostoses ,多发性长骨外生骨疣,Multiple exostoses originating in long bones. ,校对中... +HP:0005041,Irregular capital femoral epiphysis ,股骨头骨骺不规则,Irregular surface of the normally relatively smooth capital femoral epiphysis. ,校对中... +HP:0005042,"Irregular, rachitic-like metaphyses ",不规则佝偻病样干骺端, , +HP:0005045,Diaphyseal cortical sclerosis ,骨干皮质硬化症,An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity. ,校对中... +HP:0005048,Synostosis of carpal bones ,腕骨骨性融合, , +HP:0005050,Anterolateral radial head dislocation ,桡骨头前外侧脱位,A dislocation of the head of the radius from its socket in the elbow joint in an anterolateral direction. ,校对中... +HP:0005054,Metaphyseal spurs ,干骺端骨刺,Bony outgrowths that extend laterally from the margin of the metaphysis. ,校对中... +HP:0005060,Limited elbow flexion/extension ,肘关节屈曲/扩展受限, , +HP:0005063,"Fragmented, irregular epiphyses ",不规则、碎裂的骨骺, , +HP:0005066,Cone-shaped epiphyses fused within their metaphyses ,干骺端融合的锥形骨骺, , +HP:0005067,Proximal fibular overgrowth ,腓骨近端增生,Overgrowth of the proximal part of the fibula. ,校对中... +HP:0005068,Absent styloid process of ulna ,尺骨茎突缺如, , +HP:0005072,Hyperextensibility at wrists ,手腕背伸过度,The ability of the wrist joints to move beyond their normal range of motion. ,校对中... +HP:0005084,Anterior radial head dislocation ,桡骨头前脱位,A dislocation of the head of the radius from its socket in the elbow joint in an anterior direction. ,校对中... +HP:0005085,Limited knee flexion/extension ,膝关节屈伸受限,A limited ability of the knee joint to perform extension and flexion. ,校对中... +HP:0005086,Knee osteoarthritis ,膝关节骨性关节炎, , +HP:0005089,Abnormal metaphyseal trabeculation ,干骺端小梁异常,An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. ,校对中... +HP:0005090,Lateral femoral bowing ,股骨外侧弯曲,A lateral bending or abnormal curvature of the femur. ,校对中... +HP:0005092,Streaky metaphyseal sclerosis ,干骺端条纹样硬化,The presence of streaks (bands) of abnormally increased density of metaphyseal bone. ,校对中... +HP:0005096,Distal femoral bowing ,股骨远端弯曲,A bending or abnormal curvature of the distal portion of the femur. ,校对中... +HP:0005100,Premature birth following premature rupture of fetal membranes ,胎膜早破引起的胎儿早产, , +HP:0005101,High-frequency hearing impairment ,高频听力障碍,"A type of hearing impairment affecting primarily the higher frequencies of sound (3,000 to 6,000 Hz). ",校对中... +HP:0005102,Cochlear degeneration ,耳蜗退行性变,Deterioration or loss of the tissues of the cochlea. ,校对中... +HP:0005103,Calcification of the auricular cartilage ,耳软骨钙化,Ossification affecting the external ear cartilage. ,校对中... +HP:0005104,Hypoplastic nasal septum ,鼻中隔发育不全,Underdevelopment of the nasal septum. ,校对中... +HP:0005105,Abnormal nasal morphology ,鼻形态异常, , +HP:0005106,Abnormality of the vertebral endplates ,椎骨终板异常,"Any abnormality of the vertebral end plates, which are the top and bottom portions of the vertebral bodies that interface with the vertebral discs. ",校对中... +HP:0005107,Abnormal sacrum morphology ,骶骨形态异常,An abnormality of the sacral bone. ,校对中... +HP:0005108,Abnormality of the intervertebral disk ,椎间盘异常,An abnormality of the intervertebral disk. ,校对中... +HP:0005109,Abnormality of the Achilles tendon ,跟腱的异常,An abnormality of the Achilles tendon. ,校对中... +HP:0005110,Atrial fibrillation ,心房纤颤,"An atrial arrhythmia characterized by disorganized atrial activity without discrete P waves on the surface EKG, but instead by an undulating baseline or more sharply circumscribed atrial deflections of varying amplitude an frequency ranging from 350 to 600 per minute. ",校对中... +HP:0005112,Abdominal aortic aneurysm ,腹主动脉瘤,An abnormal localized widening (dilatation) of the abdominal aorta. ,校对中... +HP:0005113,Aortic arch aneurysm ,主动脉弓部瘤,An abnormal localized widening (dilatation) of the aortic arch. ,校对中... +HP:0005115,Supraventricular arrhythmia ,室上性心律失常,"A type of arrhythmia that originates above the ventricles, whereby the electrical impulse propagates down the normal His Purkinje system similar to normal sinus rhythm. ",校对中... +HP:0005116,Arterial tortuosity ,动脉迂曲,"Abnormal tortuous (i.e., twisted) form of arteries. ",校对中... +HP:0005117,Elevated diastolic blood pressure ,舒张压升高,Abnormal increase in diastolic blood pressure. ,校对中... +HP:0005121,Posterior scalloping of vertebral bodies ,椎体后方扇形,An excessive concavity of the posterior surface of one or more vertebral bodies. ,校对中... +HP:0005129,Congenital hypertrophy of left ventricle ,先天性左心室肥厚, , +HP:0005132,Pericardial constriction ,心包缩窄,"Compression of the heart caused by rigid, thickened, or fused pericardial membranes. ",校对中... +HP:0005133,Right ventricular dilatation ,右心室扩张,Enlargement of the chamber of the right ventricle. ,校对中... +HP:0005134,Absence of the pulmonary valve ,肺动脉瓣缺失,Refers to the specific combination of defects with a severely dysplastic pulmonary valve and massively dilated branch pulmonary arteries. ,校对中... +HP:0005135,Abnormal T-wave ,T波异常,"An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles. ",校对中... +HP:0005136,Mitral annular calcification ,二尖瓣环钙化,Mitral annular calcification (MAC) results from progressive calcium deposition along and beneath the mitral valve annulus. ,校对中... +HP:0005144,Ventricular septal hypertrophy ,室间隔肥厚,"The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. ",校对中... +HP:0005145,Coronary artery stenosis ,冠状动脉狭窄,Abnormal narrowing of the coronary artery. ,校对中... +HP:0005147,Bidirectional ventricular ectopy ,双向心室异位, , +HP:0005148,Pulmonary valve defects ,肺动脉瓣缺陷,Any defect in the valve connecting the heart and the pulmonary artery. ,校对中... +HP:0005150,Abnormal atrioventricular conduction ,房室传导异常,An impairment of the electrical continuity between the atria and ventricles. ,校对中... +HP:0005151,Preductal coarctation of the aorta ,导管前主动脉缩窄,"Narrowing or constriction of the aorta localized proximal to the ductus arteriosus, i.e., to the preductal region of aortic arch. ",校对中... +HP:0005152,Histiocytoid cardiomyopathy ,组织细胞样心肌病,A type of cardiomyopathy characterized pathologically by hamartomatous lesions of cardiac Purkinje cells. ,校对中... +HP:0005155,Ventricular escape rhythm ,室性逸搏心律,"A ventircular escape rhythm occurs whenever higher-lever pacemakers in AV junction or sinus node fail to control ventricular activation. Escape rate is usually 20-40 bpm, often associated with broad QRS complexes (at least 120 ms). ",校对中... +HP:0005156,Hypoplastic left atrium ,左心房发育不全,"Underdeveloped, small left heart atrium ",校对中... +HP:0005157,Concentric hypertrophic cardiomyopathy ,向心性肥厚型心肌病,Hypertrophic cardiomyopathy with an symmetrical and concentric pattern of hypertrophy. ,校对中... +HP:0005160,Total anomalous pulmonary venous return ,完全性肺静脉回流异常,"Total anomalous pulmonary venous return refers to a congenital malformation in which all four pulmonary veins do not connect normally to the left atrium, but instead drain abnormally to the right atrium. ",校对中... +HP:0005162,Abnormal left ventricular function ,左心室功能异常,Inability of the left ventricle to perform its normal physiologic function. Failure is either due to an inability to contract the left ventricle or the inability to relax completely and fill with blood during diastole. ,校对中... +HP:0005164,Dysplastic pulmonary valve ,肺动脉瓣发育不良,A congenital malformation of the pulmonary valve characterized by leaflet deformation. ,校对中... +HP:0005165,Shortened PR interval ,PR间期缩短,"Reduced time for the PR interval (beginning of the P wave to the beginning of the QRS complex). In adults, normal values are 120 to 200 ms long. ",校对中... +HP:0005168,Elevated right atrial pressure ,右心房压力升高,An abnormal increase in magnitude of the pressure in the right atrium. ,校对中... +HP:0005170,Complete heart block with broad QRS complexes ,完全性心脏传导阻滞伴宽QRS波群,"A type of third degree heart block in which the escape rhythm arises at a relatively low part of the conduction system (below the atrioventricular node), which produces a wide QRS complex. ",校对中... +HP:0005172,Left posterior fascicular block ,左后分支传导阻滞,Conduction block in the posterior division of the left bundle branch of the bundle of His. ,校对中... +HP:0005176,Dysplastic aortic valve ,主动脉瓣发育不良,A congenital malformation of the aortic valve characterized by leaflet deformation. ,校对中... +HP:0005177,Premature arteriosclerosis ,早发性动脉粥样硬化,Arteriosclerosis occurring at an age that is younger than usual. ,校对中... +HP:0005180,Tricuspid regurgitation ,三尖瓣反流,"Failure of the tricuspid valve to close sufficiently upon contraction of the right ventricle, causing blood to regurgitate (flow backward) into the right atrium. ",校对中... +HP:0005181,Premature coronary artery atherosclerosis ,早发性冠心病,Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries before age of 45. ,校对中... +HP:0005182,Bicuspid pulmonary valve ,二叶肺动脉瓣,The presence of a bicuspid pulmonary valve. ,校对中... +HP:0005183,Pericardial lymphangiectasia ,心包淋巴管扩张,An abnormal dilatation of lymph vessels in the pericardium. ,校对中... +HP:0005184,Prolonged QTc interval ,QTc间期延长,A longer than normal interval (corrected for heart rate) between the Q and T waves in the heart's cycle. Prolonged QTc can cause premature action potentials during late phase depolarizations thereby leading to ventricular arrhythmias and ventricular fibrillations. ,校对中... +HP:0005186,Synovial hypertrophy ,滑膜肥厚, , +HP:0005187,Progressive joint destruction ,关节渐进性受损, , +HP:0005190,Proximal finger joint hyperextensibility ,近端指关节伸展过度, , +HP:0005193,Restricted large joint movement ,大关节运动受限, , +HP:0005194,Flattened metatarsal heads ,扁平跖骨头,Abnormally flat shape of the heads of the metatarsal bones. ,校对中... +HP:0005195,Polyarticular arthropathy ,多关节病, , +HP:0005197,Generalized morning stiffness ,周身性晨僵,A sensation of stiffness in the joints that occurs following waking up in the morning. ,校对中... +HP:0005198,Stiff interphalangeal joints ,指关节僵硬,Interphalangeal joint stiffness is a perceived sensation of tightness in the interphalangeal joints when attempting to move them after a period of inactivity. ,校对中... +HP:0005199,Aplasia of the abdominal wall musculature ,腹壁肌肉发育不全,Absence of the abdominal musculature. ,校对中... +HP:0005200,Retroperitoneal fibrosis ,腹膜后纤维化, , +HP:0005201,Anomalous splenoportal venous system ,异常脾门静脉系统, , +HP:0005202,Helicobacter pylori infection ,幽门螺杆菌感染,"A recurrent infection of the GI tract with helicobacter pylori, a gram-negative, microaerophilic bacterium usually found in the stomach. ",校对中... +HP:0005203,Spontaneous esophageal perforation ,自发性食管穿孔,The occurrence of the full-thickness tear (perforation) of the wall of the esophagus. ,校对中... +HP:0005206,Pancreatic pseudocyst ,胰腺假性囊肿,Cyst-like space not lined by epithelium and contained within the pancreas. Pancreatic pseudocysts are often associated with pancreatitis. ,校对中... +HP:0005208,Secretory diarrhea ,分泌性腹泻,Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. ,校对中... +HP:0005209,Intrahepatic bile duct cysts ,肝内胆管囊肿,The presence of cyst of the intrahepatic bile duct. ,校对中... +HP:0005211,Midgut malrotation ,中肠旋转不良, , +HP:0005212,Anal mucosal leukoplakia ,肛门粘膜白斑,"Leukoplakia is a precancerous dermatosis of mucous membranes analogous Leukoplakia is basically a chronic inflammatory hypertrophy in which anaplasia and malignant dyskeratosis may develop and subsequently advance to an invasive squamous cell cancer. The clinical diagnosis of primary anal leukoplakia is indicated by single or multiple slightly raised,irregular, marginated, grayish-white keratinized' patches in the anal canal. Tissue biopsy is necessary for confirmation. ",校对中... +HP:0005213,Pancreatic calcification ,胰腺钙化,The presence of abnormal calcium deposition lesions in the pancreas. ,校对中... +HP:0005214,Intestinal obstruction ,肠梗阻,Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal. ,校对中... +HP:0005215,Frequent Giardia lamblia infestation ,频繁蓝氏贾第鞭毛虫感染,"Increased susceptibility to Giardia lamblia infection of the intestine, as manifested by a medical history of multiple episodes of Giardia lamblia intestinal infection. ",校对中... +HP:0005216,Impaired mastication ,咀嚼功能受损,"An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. ",校对中... +HP:0005217,Duplication of internal organs ,内部器官重复, , +HP:0005218,Anoperineal fistula ,肛门会阴瘘,The presence of a fistula (abnormal tunnel) between the anal canal and the perineum. ,校对中... +HP:0005219,Absence of intrinsic factor ,内因子缺乏,"Absence of gastric intrinsic factor, which is normally produced by the parietal cells of the stomach, and is required for the absorption of vitamin B12. ",校对中... +HP:0005222,Bowel diverticulosis ,肠憩室病,The presence of multiple diverticula of the intestine. ,校对中... +HP:0005224,Rectal abscess ,直肠脓肿,A collection of pus in the area of the rectum. ,校对中... +HP:0005225,Intestinal edema ,肠道水肿,"Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. ",校对中... +HP:0005227,Adenomatous colonic polyposis ,腺瘤性结肠息肉病,Presence of multiple adenomatous polyps in the colon. ,校对中... +HP:0005229,Jejunoileal ulceration ,空回肠溃疡, , +HP:0005230,Biliary tract obstruction ,胆道梗阻,Obstruction affecting the biliary tree. ,校对中... +HP:0005231,Chronic gastritis ,慢性胃炎,A chronic form of gastritis. ,校对中... +HP:0005235,Jejunal atresia ,空肠闭锁,"A developmental defect resulting in abnormal closure, or atresia of the tubular structure of the jejunum. ",校对中... +HP:0005236,Chronic calcifying pancreatitis ,慢性钙化性胰腺炎,A form of chronic pancreatitis that is characterized by calcification. ,校对中... +HP:0005242,Extrahepatic biliary duct atresia ,肝外胆道闭锁,Atresia in the extrahepatic bile duct. ,校对中... +HP:0005243,Partial abdominal muscle agenesis ,局部腹肌发育不全,Failure to form of portions of the abdominal musculature. ,校对中... +HP:0005244,Gastrointestinal infarctions ,胃肠道梗塞, , +HP:0005245,Intestinal hypoplasia ,肠道发育不良,Developmental hypoplasia of the intestine. ,校对中... +HP:0005247,Hypoplasia of the abdominal wall musculature ,腹壁肌肉发育不良,Underdevelopment of the abdominal musculature. ,校对中... +HP:0005248,Intrahepatic biliary atresia ,肝内胆道闭锁,Atresia in the intrahepatic bile duct. ,校对中... +HP:0005249,Functional intestinal obstruction ,功能性肠梗阻, , +HP:0005253,Increased anterioposterior diameter of thorax ,胸廓前后径增大, , +HP:0005254,Unilateral chest hypoplasia ,单侧胸部发育不全, , +HP:0005255,Absence of pectoralis minor muscle ,胸小肌缺如,Aplasia (congenital absence) of the pectoralis minor. ,校对中... +HP:0005257,Thoracic hypoplasia ,胸廓发育不全, , +HP:0005258,Pectoral muscle hypoplasia/aplasia ,胸肌发育不全/发育不良, , +HP:0005259,Abnormal facility in opposing the shoulders ,双肩维持对称性异常, , +HP:0005261,Joint hemorrhage ,关节出血,Hemorrhage occurring within a joint. ,校对中... +HP:0005263,Gastritis ,胃炎,The presence of inflammation of the gastric mucous membrane. ,校对中... +HP:0005264,Abnormality of the gallbladder ,胆囊异常,An abnormality of the gallbladder. ,校对中... +HP:0005266,Intestinal polyp ,肠息肉,"A discrete abnormal tissue mass that protrudes into the lumen of the intestine and is attached to the intestinal wall either by a stalk, pedunculus, or a broad base. ",校对中... +HP:0005267,Premature delivery because of cervical insufficiency or membrane fragility ,宫颈机能不全或胎膜脆性原因导致的早产, , +HP:0005268,Spontaneous abortion ,自然流产,"A pregnancy that ends at a stage in which the fetus is incapable of surviving on its own, defined as the spontaneous loss of a fetus before the 20th week of pregnancy. ",校对中... +HP:0005272,Prominent nasolabial fold ,鼻唇沟突出,"Exaggerated bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion, or commissure). ",校对中... +HP:0005273,Absent nasal septal cartilage ,鼻中隔软骨缺如,Lack of the cartilage of the nasal septum. ,校对中... +HP:0005274,Prominent nasal tip ,鼻尖突出, , +HP:0005275,Cartilaginous ossification of nose ,鼻软骨骨化, , +HP:0005278,Hypoplastic nasal tip ,鼻尖发育不全, , +HP:0005280,Depressed nasal bridge ,鼻梁塌陷,Posterior positioning of the nasal root in relation to the overall facial profile for age. ,校对中... +HP:0005281,Hypoplastic nasal bridge ,鼻梁发育不全, , +HP:0005285,Absent nasal bridge ,无鼻梁, , +HP:0005288,Abnormality of the nares ,鼻孔异常,Abnormality of the nostril. ,校对中... +HP:0005290,Internal carotid artery hypoplasia ,颈内动脉发育不全, , +HP:0005292,Intimal thickening in the coronary arteries ,冠状动脉内膜增厚, , +HP:0005293,Venous insufficiency ,静脉功能不全, , +HP:0005294,Arterial dissection ,动脉夹层,A separation (dissection) of the layers of an artery. ,校对中... +HP:0005297,Premature occlusive vascular stenosis ,早发闭塞性血管狭窄,Peripheral arterial stenosis with onset before the age of 50 years. ,校对中... +HP:0005301,Persistent left superior vena cava ,左侧上腔静脉永存,A rare congenital vascular anomaly that results when the left superior cardinal vein caudal to the innominate vein fails to regress. ,校对中... +HP:0005302,Carotid artery tortuosity ,颈动脉迂曲,"Abnormal tortuous (i.e., twisted) form of the carotid arteries. ",校对中... +HP:0005303,Aortic arch calcification ,主动脉弓钙化,"Calcification, that is, pathological deposition of calcium salts in the arch of aorta. ",校对中... +HP:0005304,Hypoplastic pulmonary veins ,肺静脉发育不全, , +HP:0005305,Cerebral venous thrombosis ,脑静脉血栓形成,"Formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow. ",校对中... +HP:0005306,Capillary hemangioma ,毛细血管瘤,"The presence of a capillary hemangioma, which are hemangiomas with small endothelial spaces. ",校对中... +HP:0005307,Postural hypotension with compensatory tachycardia ,体位性低血压伴代偿性心动过速, , +HP:0005308,Pulmonary artery vasoconstriction ,肺动脉收缩, , +HP:0005310,Large vessel vasculitis ,大血管炎,A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta. ,校对中... +HP:0005311,Agenesis of pulmonary vessels ,肺血管发育不全,A developmental defect characterized by the lack of formation of the pulmonary blood vessels. ,校对中... +HP:0005312,Pulmonary aterial intimal fibrosis ,肺动脉内膜纤维化,Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation. ,校对中... +HP:0005313,Arterial fibromuscular dysplasia ,纤维肌性动脉发育不良,"An arterial lesion that is characterized by either intimal fibroplasia, with neointimal lesions of cells and matrix deposition, or medial fibroplasia, in which there is loss of smooth muscle cells and increased deposition of collagen and proteoglycans in the medial layer. ",校对中... +HP:0005316,Peripheral pulmonary vessel aplasia ,周围肺血管发育不全, , +HP:0005317,Increased pulmonary vascular resistance ,肺血管阻力增加,"Pulmonary vascular resistance (PVR) more than 3 wood units, as defined by the current definition of pulmonary hypertension. 95% of individuals have a PVR of less than 2.4 wood units. ",校对中... +HP:0005318,Cerebral vasculitis ,脑血管炎,Inflammation of the blood vessels within the brain. ,校对中... +HP:0005320,Lack of facial subcutaneous fat ,面部皮下脂肪缺乏, , +HP:0005321,Mandibulofacial dysostosis ,下颌面骨发育不全,"A type of craniofacial dysostosis associated with abnormalities of the external ears, mirognathia, macrostomia, coloboma of the lower eyelid, and cleft palate. This is a bundled term that is left in the HPO now for convenience with legacy annotations but should not be used for new annotations. ",校对中... +HP:0005322,Prominent nasal septum ,鼻中隔突起, , +HP:0005324,Disturbance of facial expression ,面部表情障碍,"An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed. ",校对中... +HP:0005325,Extension of hair growth on temples to lateral eyebrow ,颞部头发连到眉梢,A pattern of hair growth in which there is hair extending from the temples to the lateral eyebrows. ,校对中... +HP:0005326,Hypoplastic philtrum ,人中发育不全,Underdevelopment of the philtrum. ,校对中... +HP:0005327,Loss of facial expression ,面部表情退失, , +HP:0005328,Progeroid facial appearance ,早衰面容,"A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance. ",校对中... +HP:0005329,Fixed facial expression ,面部表情木讷, , +HP:0005332,Recurrent mandibular subluxations ,复发性下颌骨半脱位,Recurrent partial dislocations of the mandible. ,校对中... +HP:0005335,Sleepy facial expression ,困倦的表情, , +HP:0005336,Forehead hyperpigmentation ,前额色素沉着, , +HP:0005338,Sparse lateral eyebrow ,眉尖稀疏,Decreased density/number and/or decreased diameter of lateral eyebrow hairs. ,校对中... +HP:0005339,Abnormality of complement system ,补体系统异常,An abnormality of the complement system. ,校对中... +HP:0005340,Spastic/hyperactive bladder ,膀胱痉挛/过度活跃, ,校对中... +HP:0005341,Autonomic bladder dysfunction ,自主性膀胱功能障碍,Abnormal bladder function (increased urge or frequency of urination or urge incontinence) resulting from abnormal functioning of the autonomic nervous system. ,校对中... +HP:0005343,Hypoplasia of the bladder ,膀胱发育不良,Underdevelopment of the urinary bladder. ,校对中... +HP:0005344,Abnormal carotid artery morphology ,颈动脉形态异常,"Any structural abnormality of the carotid arteries, including the common carotid artery and its' arterial branches. ",校对中... +HP:0005345,Abnormal vena cava morphology ,腔静脉形态异常,"An abnormality of the structure of the veins that return deoxygenated blood from the body into the heart, i.e., the superior vena cava and the inferior vena cava. ",校对中... +HP:0005346,Abnormal facial expression ,面部表情异常, , +HP:0005347,Cartilaginous trachea ,气管软骨化, , +HP:0005348,Inspiratory stridor ,吸气性喘鸣,Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities. ,校对中... +HP:0005349,Hypoplasia of the epiglottis ,会厌发育不良,Hypoplasia of the epiglottis. ,校对中... +HP:0005352,Severe T-cell immunodeficiency ,重度T细胞免疫缺陷,A primary immune deficiency that is characterized by defects or deficiencies of T-lymphocytes that causes specific susceptibility to intracellular micro-organisms. ,校对中... +HP:0005353,Recurrent herpes ,复发性疱疹,"Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. ",校对中... +HP:0005354,Lack of T cell function ,T细胞功能缺陷,Complete inability of T cells to perform their functions in cell-mediated immunity. ,校对中... +HP:0005356,Decreased serum complement factor I ,血清补体因子I减少,A reduced level of the complement component Factor I in circulation. ,校对中... +HP:0005357,Defective B cell differentiation ,B细胞分化缺陷,Reduced functionality of the process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity. ,校对中... +HP:0005359,Aplasia of the thymus ,胸腺发育不全,Absence of the thymus. This feature may be appreciated by the lack of a thymic shadow upon radiographic examination. ,校对中... +HP:0005360,Susceptibility to chickenpox ,水痘易感,"Increased susceptibility to chicken pox, as manifested by recurrent episodes of chicken pox. ",校对中... +HP:0005363,Humoral immunodeficiency ,体液免疫缺陷,A general term referring to a defect in immunity resulting from impaired antibody production. ,校对中... +HP:0005365,Severe B lymphocytopenia ,重型B淋巴细胞减少症,A severe form of B lymphocytopenia in which the count of B cells is very low or absent. ,校对中... +HP:0005366,Recurrent streptococcus pneumoniae infections ,复发性链球菌感染肺炎,Increased susceptibility to streptococcus pneumoniae infections as manifested by a history of recurrent infections by streptococcus pneumoniae. ,校对中... +HP:0005368,Abnormality of humoral immunity ,体液免疫异常,"An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. ",校对中... +HP:0005369,Decreased serum complement factor H ,血清补体因子H减少,A reduced level of the complement component Factor H in circulation. ,校对中... +HP:0005372,Abnormality of B cell physiology ,B细胞生理异常,An abnormality of the physiological functioning of B cells. ,校对中... +HP:0005374,Cellular immunodeficiency ,细胞免疫缺陷,An immunodeficiency characterized by defective cell-mediated immunity or humoral immunity. ,校对中... +HP:0005376,Recurrent Haemophilus influenzae infections ,反复流感嗜血杆菌感染,Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae. ,校对中... +HP:0005381,Recurrent meningococcal disease ,反复脑膜炎球菌感染,"Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus. ",校对中... +HP:0005384,Defective B cell activation ,B细胞活化障碍,"A reduced ability of a B cell to become activated, i.e., the change in morphology and behavior of ",校对中... +HP:0005386,Recurrent protozoan infections ,反复原虫感染,"Increased susceptibility to protozoan infections, as manifested by recurrent episodes of protozoan infection. ",校对中... +HP:0005387,Combined immunodeficiency ,联合免疫缺陷,"A group of phenotypically heterogeneous genetic disorders characterized by profound deficiencies of T- and B-cell function, which predispose the patients to both infectious and noninfectious complications. ",校对中... +HP:0005389,Depletion of components of the alternative complement pathway ,补体旁路途径组分消耗,"An abnormal reduction in the components of the alternative complement pathway, such as the C3 protein or its cleavage products. ",校对中... +HP:0005390,Recurrent opportunistic infections ,反复机会性感染,"Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system. ",校对中... +HP:0005400,Reduction of neutrophil motility ,中性粒细胞运动性能减低,An abnormal reduction of the cell motility of neutrophils. ,校对中... +HP:0005401,Recurrent candida infections ,反复念珠菌感染,"An increased susceptibility to candida infections, as manifested by a history of recurrent episodes of candida infections. ",校对中... +HP:0005403,T lymphocytopenia ,T淋巴细胞减少症,An abnormally low count of T cells. ,校对中... +HP:0005404,Increased B cell count ,B细胞数量增多,An abnormal increase from the normal count of B cells. ,校对中... +HP:0005406,Recurrent bacterial skin infections ,复发性细菌性皮肤感染,"Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis. ",校对中... +HP:0005407,Decreased proportion of CD4-positive helper T cells ,CD4+辅助 T 细胞比例减低,A decreased proportion of circulating CD4-positive helper T cells relative to total T cell count. ,校对中... +HP:0005413,Increased alpha-globulin ,α-球蛋白增加,"An abnormally increased level of circulationg alpha-globulin. Alpha globulins are a group of serum proteins defined by their mobility on serum electrophoresis. The alpha1-protein fraction is comprised of alpha1-antitrypsin, thyroid-binding globulin, and transcortin. Ceruloplasmin, alpha2-macroglobulin, and haptoglobin contribute to the alpha2-protein band. The alpha2 component is increased as an acute-phase reactant. ",校对中... +HP:0005415,Decreased proportion of CD8-positive T cells ,CD8 + T细胞数目减低,"A decreased proportion of circulating CD8-positive, alpha-beta T cells relative to total number of T cells. ",校对中... +HP:0005416,Decreased serum complement factor B ,血清补体因子B降低,A reduced level of the complement component factor B in circulation. ,校对中... +HP:0005419,Decreased T cell activation ,T细胞活化降低,"Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific. ",校对中... +HP:0005420,Recurrent gram-negative bacterial infections ,反复革兰氏阴性菌感染,"Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents. ",校对中... +HP:0005421,Decreased serum complement C3 ,血清补体C3减少,A reduced level of the complement component C3 in circulation. ,校对中... +HP:0005422,Absence of CD8-positive T cells ,CD8 + T细胞缺乏,Lack of detectible CD8-positive T cells ,校对中... +HP:0005423,Dysfunctional alternative complement pathway ,补体旁路途径功能失调,An abnormality of the functioning of any aspect of the alternative complement pathway. ,校对中... +HP:0005424,Absent specific antibody response ,特异性抗体应答缺失,Absence of specific immunoglobulins directed against a specific antigen or microorganism. ,校对中... +HP:0005425,Recurrent sinopulmonary infections ,反复鼻窦及肺感染,"An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. ",校对中... +HP:0005428,Severe recurrent varicella ,重症复发性水痘, , +HP:0005429,Recurrent systemic pyogenic infections ,反复全身化脓性感染,"Increased susceptibility to systemic pyogenic infections, as manifested by recurrent episodes of systemic pyogenic infections. ",校对中... +HP:0005430,Recurrent Neisserial infections ,反复奈瑟氏球菌感染,"Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis). ",校对中... +HP:0005435,Impaired T cell function ,T细胞功能受损,Abnormally reduced ability of T cells to perform their functions in cell-mediated immunity. ,校对中... +HP:0005437,Recurrent infections in infancy and early childhood ,婴儿和幼儿期反复感染,Recurrent infections at an early age with improvement in later childhood. ,校对中... +HP:0005439,Maxillozygomatic hypoplasia ,上颌颧骨发育不全,Hypoplasia of the maxillozygomatic complex. ,校对中... +HP:0005441,Sclerotic cranial sutures ,颅缝硬化,An increased density in the cranial sutures following obliteration. ,校对中... +HP:0005442,Widely patent coronal suture ,冠状缝未闭,The presence of a coronal suture (the cranial suture that separates the frontal and parietal bones) that is not ossified but rather wide open at an age when it is normally closed. ,校对中... +HP:0005445,Enlarged posterior fossa ,后颅窝增宽,Abnormal increased size of the posterior cranial fossa. ,校对中... +HP:0005446,Obtuse angle of mandible ,下颌钝角,"Abnormally flat (obtuse) angle of the mandible. The angle of the mandibular, located at the junction between the body and the ramus of the mandible, is normally close to being a right angle. This terms describes an abnormal increase of this angle such that the mandible appears flatter than normal. ",校对中... +HP:0005449,Bridged sella turcica ,桥形蝶鞍, , +HP:0005450,Calvarial osteosclerosis ,颅骨硬化,An increase in bone density affecting the calvaria (roof of the skull). ,校对中... +HP:0005451,Decreased cranial base ossification ,颅底骨化减少, , +HP:0005453,Absent/hypoplastic paranasal sinuses ,副鼻窦缺如/发育不全,Aplasia or hypoplasia of the paranasal sinuses. ,校对中... +HP:0005458,Premature closure of fontanelles ,囟门过早闭合,"Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point. ",校对中... +HP:0005461,Craniofacial disproportion ,颅面比例失调, , +HP:0005462,Calcification of falx cerebri ,大脑镰钙化,The presence of calcium deposition in the falx cerebri. ,校对中... +HP:0005463,Elongated sella turcica ,长蝶鞍, , +HP:0005464,Craniofacial osteosclerosis ,颅面骨硬化,Abnormally increased density of craniofacial bone tissue. ,校对中... +HP:0005465,Facial hyperostosis ,面骨增生,"Excessive growth (overgrowth) of the facial bones, that is of the facial skeleton. ",校对中... +HP:0005466,Hypoplasia of the frontal bone ,额骨发育不全,Underdevelopment of the frontal bone. ,校对中... +HP:0005469,Flat occiput ,枕骨扁平,Reduced convexity of the occiput (posterior part of skull). ,校对中... +HP:0005472,Orbital craniosynostosis ,眶颅缝早闭, , +HP:0005473,Fusion of middle ear ossicles ,中耳听小骨融合,"Bony fusion of malleus, incus, and stapes. ",校对中... +HP:0005474,Decreased calvarial ossification ,颅骨骨化减少,"Abnormal reduction in ossification of the calvaria (roof of the skull consisting of the frontal bone, parietal bones, temporal bones, and occipital bone). ",校对中... +HP:0005476,Widely patent sagittal suture ,矢状缝未闭,The presence of a sagittal suture (the cranial suture that separates the left and right parietal bones) that is not ossified but rather wide open at an age when it is normally closed. ,校对中... +HP:0005477,Progressive sclerosis of skull base ,颅底渐进性硬化症,Progressively increasing bone density of the skull base without significant changes in bony contour. ,校对中... +HP:0005478,Prominent frontal sinuses ,额窦突出, , +HP:0005479,Decreased circulating IgE ,循环IgE水平降低,An abnormally decreased level of immunoglobulin E (IgE) in blood. ,校对中... +HP:0005483,Abnormal epiglottis morphology ,会厌形态异常,An abnormality of the epiglottis. ,校对中... +HP:0005484,Secondary microcephaly ,继发性小头畸形,Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth. ,校对中... +HP:0005487,Prominent metopic ridge ,额嵴突出,Vertical bony ridge positioned in the midline of the forehead. ,校对中... +HP:0005490,Postnatal macrocephaly ,出生后巨头畸形,The postnatal development of an abnormally large skull (macrocephaly). ,校对中... +HP:0005494,Premature posterior fontanelle closure ,后囟门过早闭合, , +HP:0005495,Metopic suture patent to nasal root ,额缝开放至鼻根,The frontal suture divides the two halves of the frontal bone in infants and usually fuses by the age of six years. The suture runs from the bregma (the point on the skull at which the coronal suture is intersected perpendicularly by the sagittal suture) to the nasion or nasal root. This term applies if the suture is widely patent from bregma to nasal root. ,校对中... +HP:0005498,Midline skin dimples over anterior/posterior fontanelles ,前/后囟门中线皮肤凹陷, , +HP:0005502,Increased red cell osmotic fragility ,红细胞渗透脆性增加, , +HP:0005505,Refractory anemia ,难治性贫血, , +HP:0005506,Chronic myelogenous leukemia ,慢性粒细胞白血病,A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate. ,校对中... +HP:0005508,Monoclonal immunoglobulin M proteinemia ,单克隆IgM血症,Presence of a monoclonal immunoglobulin M protein in the serum. ,校对中... +HP:0005511,Heinz body anemia ,海因小体贫血,"Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells. ",校对中... +HP:0005513,Increased megakaryocyte count ,巨核细胞计数增加,"Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow. ",校对中... +HP:0005518,Increased mean corpuscular volume ,平均红细胞体积增加,Larger than normal size of erythrocytes. ,校对中... +HP:0005521,Disseminated intravascular coagulation ,弥漫性血管内凝血,"Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. ",校对中... +HP:0005522,Pyridoxine-responsive sideroblastic anemia ,吡哆醇反应性铁粒幼细胞性贫血,A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. ,校对中... +HP:0005523,Lymphoproliferative disorder ,淋巴增生性疾病, , +HP:0005525,Spontaneous hemolytic crises ,自发性溶血危象, , +HP:0005528,Bone marrow hypocellularity ,骨髓细胞减少,A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. ,校对中... +HP:0005532,Macrocytic dyserythropoietic anemia ,大细胞性红细胞生成异常性贫血, , +HP:0005535,Exercise-induced hemolysis ,运动诱发性性溶血,A form of hemolytic anemia that can be triggered by exertion. ,校对中... +HP:0005537,Decreased mean platelet volume ,平均血小板体积减小,Average platelet volume below the lower limit of the normal reference interval. ,校对中... +HP:0005541,Congenital agranulocytosis ,先天性粒细胞缺乏症,Congenital onset of a marked decrease in the number of granulocytes. ,校对中... +HP:0005542,Prolonged whole-blood clotting time ,全血凝血时间延长,An abnormal prolongation (delay) in the time required by whole blood to produce a visible clot. ,校对中... +HP:0005543,Reduced protein C activity ,蛋白C活性减低,An abnormality of coagulation related to a decreased concentration of vitamin K-dependent protein C. Protein C is activated to protein Ca by thrombin bound to thrombomodulin. Activated protein C degrades factors VIIIa and Va. ,校对中... +HP:0005546,Increased red cell osmotic resistance ,红细胞渗透阻力增加, , +HP:0005547,Myeloproliferative disorder ,骨髓增生性疾病,Proliferation (excess production) of hemopoietically active tissue or of tissue which has embryonic hemopoietic potential. ,校对中... +HP:0005548,Megakaryocytopenia ,巨核细胞减少症,A reduced count of megakaryocytes. ,校对中... +HP:0005550,Chronic lymphatic leukemia ,慢性淋巴细胞白血病,"A chronic lymphocytic/lymphatic/lymphoblastic leukemia (CLL) is a neoplastic disease characterized by proliferation and accumulation (blood, marrow and lymphoid organs) of morphologically mature but immunologically dysfunctional lymphocytes. A CLL is always a B-cell lymphocytic leukemia as there are no reports of cases of T-cell lymphocytic leukemias. ",校对中... +HP:0005558,Chronic leukemia ,慢性白血病,"A slowly progressing leukemia characterized by a clonal (malignant) proliferation of maturing and mature myeloid cells or mature lymphocytes. When the clonal cellular population is composed of myeloid cells, the process is called chronic myelogenous leukemia. When the clonal cellular population is composed of lymphocytes, it is classified as chronic lymphocytic leukemia, hairy cell leukemia, or T-cell large granular lymphocyte leukemia. ",校对中... +HP:0005561,Abnormality of bone marrow cell morphology ,骨髓细胞形态异常,An anomaly of the form or number of cells in the bone marrow. ,校对中... +HP:0005562,Multiple renal cysts ,多发性肾囊肿,The presence of many cysts in the kidney. ,校对中... +HP:0005563,Decreased numbers of nephrons ,肾单位数量减少,A reduction in the count of nephrons per kidney. ,校对中... +HP:0005564,Absence of renal corticomedullary differentiation ,肾皮髓质分界消失,A lack of differentiation between renal cortex and medulla on diagnostic imaging. ,校对中... +HP:0005565,Reduced renal corticomedullary differentiation ,肾皮髓质分界模糊,Reduced differentiation between renal cortex and medulla on diagnostic imaging. ,校对中... +HP:0005567,Renal magnesium wasting ,肾脏镁消耗,High urine magnesium in the presence of hypomagnesemia. ,校对中... +HP:0005571,Increased renal tubular phosphate reabsorption ,肾小管磷重吸收增加, , +HP:0005572,Decreased renal tubular phosphate excretion ,肾小管磷排泄减少, , +HP:0005574,Non-acidotic proximal tubulopathy ,非酸中毒性近端肾小管病,"A type of proximal renal tubulopathy characterized by resorption defects leading to glycosuria, aminoaciduria, tubular proteinuria, renal hypophosphatemia, and urate tubular hyporeabsorption without bicarbonate loss. ",校对中... +HP:0005575,Hemolytic-uremic syndrome ,溶血性尿毒症综合征,"A thrombotic microangiopathy with presence of non-immune, intravascular hemolytic anemia, thrombocytopenia and acute kidney injury. A vicious cycle of complement activation, endothelial cell damage, platelet activation, and thrombosis is the hallmark of the disease. ",校对中... +HP:0005576,Tubulointerstitial fibrosis ,肾小管间质纤维化,"A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy. ",校对中... +HP:0005579,Impaired reabsorption of chloride ,氯化物重吸收障碍,Any impairment of reabsorption of chloride by the kidney in order to not lose too much chloride in the urine. ,校对中... +HP:0005580,Duplication of renal pelvis ,双肾盂,A duplication of the renal pelvis. ,校对中... +HP:0005583,Tubular basement membrane disintegration ,肾小管基底膜解体,DIsruption and breaking up of the basement membrane of the tubules of the kidney. ,校对中... +HP:0005584,Renal cell carcinoma ,肾细胞癌,A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule. ,校对中... +HP:0005585,Spotty hyperpigmentation ,点滴状色素沉着, , +HP:0005586,Hyperpigmentation in sun-exposed areas ,晒斑，日光性色素沉着, , +HP:0005587,Profuse pigmented skin lesions ,泛发性色素性皮损, , +HP:0005588,Patchy palmoplantar hyperkeratosis ,斑片状掌跖角化病,A focal type of palmoplantar keratoderma in which only certain areas of the palms and soles are affected. ,校对中... +HP:0005590,Spotty hypopigmentation ,点滴状色素减退, , +HP:0005592,Giant melanosomes in melanocytes ,黑素细胞中巨大黑素小体,The presence of large spherical melanosomes (1 to 6 micrometer in diameter) in the cytoplasm of melanocytes. ,校对中... +HP:0005595,Generalized hyperkeratosis ,泛发性角化过度, , +HP:0005597,Congenital alopecia totalis ,先天性全秃,Loss of all scalp hair with congenital onset. ,校对中... +HP:0005598,Facial telangiectasia in butterfly midface distribution ,面部毛细血管蝶状扩张,Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution. ,校对中... +HP:0005599,Hypopigmentation of hair ,毛发色素减退, , +HP:0005600,Congenital giant melanocytic nevus ,先天性巨大型色素痣,"The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. ",校对中... +HP:0005602,Progressive vitiligo ,进展期白癜风, , +HP:0005603,Numerous congenital melanocytic nevi ,多发性先天性色素痣, , +HP:0005605,Large cafe-au-lait macules with irregular margins ,边缘不规则的较大咖啡牛奶斑,Large hypermelanotic macules with jagged borders. ,校对中... +HP:0005607,Abnormal tracheobronchial morphology ,气管支气管系统形态异常, , +HP:0005608,Bilobate gallbladder ,双叶胆囊,"The presence of a bilobed gallbladder, related to a duplication of the gallbladder primordium. ",校对中... +HP:0005609,Gallbladder dysfunction ,胆囊功能障碍, , +HP:0005612,Arthrogryposis-like hand anomaly ,手关节挛缩状畸形, , +HP:0005613,Aplasia/hypoplasia of the femur ,股骨发育不良/发育不全,Absence or underdevelopment of the femur. ,校对中... +HP:0005616,Accelerated skeletal maturation ,骨骼成熟加速,An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. ,校对中... +HP:0005617,Bilateral camptodactyly ,双侧指屈曲, , +HP:0005619,Thoracolumbar kyphosis ,胸腰部脊柱后凸,Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance. ,校对中... +HP:0005620,Hypermobility of interphalangeal joints ,指间关节活动过度,The ability of the interphalangeal joints to move beyond their normal range of motion. ,校对中... +HP:0005621,Trapezoidal shaped vertebral bodies ,楔形椎体, , +HP:0005622,Broad long bones ,长骨增宽,"Increased cross-section (diameter) of the long bones. Note that widening may primarily affect specific regions of long bones (e.g., diaphysis or metaphysis), but this should be coded separately. ",校对中... +HP:0005623,Absent ossification of calvaria ,颅骨未骨化,Absent ossification of the calvaria (vault of the skull). ,校对中... +HP:0005625,Osteoporosis of vertebrae ,椎骨骨质疏松症,Osteoporosis affecting predominantly the vertebrae. ,校对中... +HP:0005627,Type D brachydactyly ,D型短指,This type of brachydactyly is characterized by short and broad terminal phalanges of the thumbs and big toes. ,校对中... +HP:0005632,Absent forearm ,前臂缺如, , +HP:0005639,Hyperextensible hand joints ,手关节背伸过度,The ability of the joints of the hand to move beyond their normal range of motion. ,校对中... +HP:0005640,Abnormal vertebral segmentation and fusion ,椎体分节和融合异常, , +HP:0005643,Short 3rd toe ,第三趾过短,Underdevelopment (hypoplasia) of the third toe. ,校对中... +HP:0005645,Intervertebral disk calcification ,椎间盘钙化,The presence of abnormal calcium deposition of the intervertebral disk. ,校对中... +HP:0005650,Cutaneous syndactyly between fingers 2 and 5 ,第二-五指之间的皮性并指畸形,A soft tissue continuity in the anteroposterior axis between the second to the fifth fingers that extends distally to at least the level of the proximal interphalangeal joints. ,校对中... +HP:0005652,Cortical sclerosis ,骨皮质硬化,"Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity. ",校对中... +HP:0005655,Multiple digital exostoses ,多发性指趾外生骨疣,Multiple exostoses originating in the fingers and toes. ,校对中... +HP:0005656,Positional foot deformity ,位置性足畸形,A foot deformity resulting due to an abnormality affecting the muscle and soft tissue. In contrast if the bones of the foot are affected the term structural foot deformity applies. ,校对中... +HP:0005659,Thoracic kyphoscoliosis ,胸椎后侧凸, , +HP:0005661,Salmonella osteomyelitis ,沙门氏菌骨髓炎,"Osteomyelitis caused by infection with the bacteria, salmonella. ",校对中... +HP:0005667,Os odontoideum ,游离齿状突(齿状突小骨),Separation of the odontoid process from the body of the axis. ,校对中... +HP:0005671,Bilateral intracerebral calcifications ,双侧颅内钙化,Deposition of calcium salts on both sides of the brain. ,校对中... +HP:0005678,Anterior atlanto-occipital dislocation ,寰枕关节前脱位, , +HP:0005679,Dupuytren contracture ,掌腱膜挛缩,An abnormality of the hand resulting from contracture of the palmar fascia with a fixed flexion deformity of the metacarpophalangeal (MCP) joints and the proximal interphalangeal (PIP) joints. ,校对中... +HP:0005681,Juvenile rheumatoid arthritis ,幼年类风湿关节炎, , +HP:0005682,Talocalcaneal synostosis ,距-跟骨骨性连合, , +HP:0005684,Distal arthrogryposis ,远端关节挛缩,An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function. ,校对中... +HP:0005686,Patchy osteosclerosis ,斑片性骨硬化,Patchy (irregular) increase in bone density. This can take on many forms depending on severity and distribution as can be seen on x-rays. ,校对中... +HP:0005688,Dysplastic distal thumb phalanges with a central hole ,伴有中心孔的远端拇指指骨发育不良, , +HP:0005692,Joint hyperflexibility ,关节过度屈曲,Increased mobility and flexibility in the joint due to the tension in tissues such as ligaments and muscles. ,校对中... +HP:0005696,Postaxial polydactyly type A ,轴后多指趾畸形A型,Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. ,校对中... +HP:0005700,Increased bone density with cystic changes ,骨密度增加伴囊性变, , +HP:0005701,Multiple enchondromatosis ,多发性内生软骨瘤, , +HP:0005707,Bilateral triphalangeal thumbs ,双侧三指节拇指畸形,A bilateral form of triphalangeal thumb. ,校对中... +HP:0005709,2-3 toe cutaneous syndactyly ,第二、三脚趾皮肤性并趾, , +HP:0005715,Flattened knee epiphyses ,扁平膝骨骺, , +HP:0005716,Lethal skeletal dysplasia ,致死性骨骼发育不良, , +HP:0005720,Shortening of all metacarpals ,全部掌骨缩短,Abnormal reduction in length of all metacarpal bones. ,校对中... +HP:0005722,Hyperextensible thumb ,拇指过度背伸,The ability of the thumb joints to move beyond their normal range of motion. ,校对中... +HP:0005731,Cortical irregularity ,骨皮质不规则,An abnormal irregularity of cortical bone. ,校对中... +HP:0005733,Spinal stenosis with reduced interpedicular distance ,椎管狭窄伴椎弓根间距缩短,"An abnormal narrowing of the spinal canal related to a reduction in the interpedicular distance (i.e., the distance measured between the pedicles on frontal [coronal] imaging). ",校对中... +HP:0005736,Short tibia ,短胫骨,Underdevelopment (reduced size) of the tibia. ,校对中... +HP:0005743,Avascular necrosis of the capital femoral epiphysis ,股骨头骨骺缺血性坏死,"Avascular necrosis of the proximal epiphysis of the femur occurring in growing children and caused by an interruption of the blood supply to the head of the femur close to the hip joint. The necrosis is characteristically associated with flattening of the femoral head, for which reason the term coxa plana has been used to refer to this feature in the medical literature. ",校对中... +HP:0005745,Congenital foot contractures ,先天性足挛缩, , +HP:0005746,Osteosclerosis of the base of the skull ,颅底骨硬化,An increase in bone density affecting the basicranium (base of the skull). ,校对中... +HP:0005750,Contractures of the joints of the lower limbs ,下肢关节挛缩, , +HP:0005756,Neonatal epiphyseal stippling ,新生儿骨骺点状钙化,"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. ",校对中... +HP:0005758,Basilar impression ,颅底压迹,Abnormal elevation of the floor of the posterior fossa including occipital condyles and foramen magnum. ,校对中... +HP:0005764,Polyarticular arthritis ,多发性关节炎, , +HP:0005766,Disproportionate shortening of the tibia ,胫骨不成比例缩短, , +HP:0005768,2-4 toe cutaneous syndactyly ,第二-四趾皮肤性并趾,"A soft tissue continuity in the anteroposterior axis between the toes 2, 3, and 4. ",校对中... +HP:0005769,Fifth finger distal phalanx clinodactyly ,第五指末节指骨弯曲,"Bending or curvature of the distal phalanx of little finger in the radial direction (i.e., towards the 4th finger). ",校对中... +HP:0005772,Aplasia/Hypoplasia of the tibia ,胫骨发育不全或发育低下,Absence or underdevelopment of the tibia. ,校对中... +HP:0005775,Multiple skeletal anomalies ,多发性骨骼异常, , +HP:0005780,Absent fourth finger distal interphalangeal crease ,第四指远端指节间褶痕缺失,Absence of the distal interphalangeal flexion creases of the fourth finger. ,校对中... +HP:0005781,Contractures of the large joints ,大关节挛缩, , +HP:0005787,Lumbar platyspondyly ,腰椎扁平椎,A flattened vertebral body shape with reduced distance beween the vertebral endplates affecting the lumbar spine. ,校对中... +HP:0005789,Generalized osteosclerosis ,周身性骨硬化,An abnormal increase of bone mineral density with generalized involvement of the skeleton. ,校对中... +HP:0005791,Cortical thickening of long bone diaphyses ,长骨骨干皮质增厚,Abnormal thickening of the cortex of the diaphyseal region of long bones. ,校对中... +HP:0005792,Short humerus ,肱骨短,Underdevelopment of the humerus. ,校对中... +HP:0005793,Shortening of all distal phalanges of the toes ,全部脚趾远节趾骨缩短,Abnormally short distal phalanx of toe of all toes. ,校对中... +HP:0005807,Absent distal phalanges ,远节指骨缺失,Aplasia (absence) of the distal phalanges. ,校对中... +HP:0005815,Supernumerary ribs ,多余肋,The presence of more than 12 rib pairs. ,校对中... +HP:0005817,Postaxial polysyndactyly of foot ,轴后多趾并趾,"Combined syndactyly and polydactyly of the foot on the lateral side (i.e., on the side of the little toe). ",校对中... +HP:0005819,Short middle phalanx of finger ,中节指骨短,"Short (hypoplastic) middle phalanx of finger, affecting one or more fingers. ",校对中... +HP:0005824,Clinodactyly of the 2nd toe ,第二趾屈趾畸形,"Bending or curvature of a second toe in the tibial direction (i.e., towards the big toe). ",校对中... +HP:0005830,Flexion contracture of toe ,脚趾屈曲挛缩,One or more bent (flexed) toe joints that cannot be straightened actively or passively. ,校对中... +HP:0005831,Type B brachydactyly ,B型短指（趾）, , +HP:0005832,Dysharmonic delayed bone age ,发育障碍性骨龄延迟,A type of dysharmonic skeletal maturation in which there is a delay in skeletal maturation whose degree differs markedly in different bones. ,校对中... +HP:0005841,Calcific stippling of infantile cartilaginous skeleton ,婴儿软骨骨骼点状钙化, , +HP:0005852,Limited elbow extension and supination ,肘部伸展和旋后受限, , +HP:0005853,Congenital foot contraction deformities ,先天性足挛缩变形, , +HP:0005855,Multiple prenatal fractures ,多发性产前骨折,The presence of bone fractures in the prenatal period that are diagnosed at birth or before. ,校对中... +HP:0005856,Ulnar radial head dislocation ,尺桡骨头脱位,A dislocation of the head of the radius from its socket in the elbow joint in an ulnar direction. ,校对中... +HP:0005857,Cervical spina bifida ,颈椎脊柱裂, , +HP:0005863,Type E brachydactyly ,E型短指（趾）,"In type E brachydactyly, shortening of the fingers is mainly in the metacarpals and metatarsals. ",校对中... +HP:0005864,Pseudoarthrosis ,假关节,"A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or ""false joint""). ",校对中... +HP:0005866,Opposable triphalangeal thumb ,能对指的三节拇指,A form of triphalangeal thumb that can be placed opposite the fingers of the same hand. ,校对中... +HP:0005867,Fused fourth and fifth metacarpals ,第四、五掌骨融合, , +HP:0005868,Metaphyseal enchondromatosis ,干骺端软骨瘤病,"An enchondroma is a benign growth of cartilage that develops within the medullary cavity of bone. Enchondromatosis refers to the presence of multiple enchondromas, and this term refers to the presence of multiple enchondromas within the medulla of metaphyseal bone. Radiographically an enchondroma presents a an oval, linear, or pyramidal osteolytic (radiolucent) lesion with well defined margins. ",校对中... +HP:0005871,Metaphyseal chondrodysplasia ,干骺端软骨发育不良,An abnormality of skeletal development characterized by a disturbance of the metaphysis and its histological structure with relatively normal epiphyses and vertebrae. ,校对中... +HP:0005872,Brachytelomesophalangy ,中远节指（趾）骨缩短,Disproportionately short middle and distal phalanges compared to the hand/foot. ,校对中... +HP:0005873,Polysyndactyly of hallux ,拇趾并趾和多趾畸形,Combined syndactyly and polydactyly of the great toe. ,校对中... +HP:0005876,Progressive flexion contractures ,进行性屈曲挛缩,Progressively worsening joint contractures. ,校对中... +HP:0005877,Multiple small vertebral fractures ,多发性小椎体骨折, , +HP:0005879,Congenital finger flexion contractures ,先天性手指屈曲挛缩,Multiple bent (flexed) finger joints that cannot be straightened actively or passively. ,校对中... +HP:0005880,Metacarpophalangeal synostosis ,掌指关节骨性融合,Fusion of a metacarpal bone with the proximal phalanx of the finger distal to it across the corresponding metacarpophalangeal joint. ,校对中... +HP:0005886,Aphalangy of the hands ,手指骨缺失,Absence of a digit or of one or more phalanges of a finger. ,校对中... +HP:0005890,Hyperostosis cranialis interna ,颅骨内板增生,Bony overgrowth of the internal (endosteal) surface of the calvaria and the base of skull. ,校对中... +HP:0005892,未找到信息,-,-,- +HP:0005895,Radial deviation of thumb terminal phalanx ,拇指末节指骨径向偏移, , +HP:0005897,Severe generalized osteoporosis ,严重全身性骨质疏松症,Severe degree of osteoporosis. ,校对中... +HP:0005900,Fifth metacarpal with ulnar notch ,第五掌骨尺骨切迹,"Presence of an angular or V -shaped indentation on the ulnar side of the fifth metacarpal bone (i.e., on the sides towards the fifth finger). ",校对中... +HP:0005905,Abnormal cervical curvature ,颈椎曲度异常,The presence of an abnormal curvature of the cervical vertebral column. ,校对中... +HP:0005906,Delayed pneumatization of the mastoid process ,乳突气腔形成延迟,"An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. ",校对中... +HP:0005912,Biliary atresia ,胆道闭锁,Atresia of the biliary tree. ,校对中... +HP:0005913,Abnormality of metacarpal epiphyses ,掌骨骨骺异常, , +HP:0005914,Aplasia/Hypoplasia involving the metacarpal bones ,掌骨发育不全或发育低下,Aplasia or Hypoplasia affecting the metacarpal bones. ,校对中... +HP:0005916,Abnormal metacarpal morphology ,掌骨形态异常,Irregularly shaped metacarpal bones of varying degree. ,校对中... +HP:0005917,Supernumerary metacarpal bones ,额外掌骨,The presence of more than the normal number of metacarpal bones. ,校对中... +HP:0005920,Abnormal epiphysis morphology of the phalanges of the hand ,指骨骨骺形态异常,"Abnormality of one or all of the epiphyses of the phalanges of the hand. Note that this includes the epiphysis of the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). ",校对中... +HP:0005922,Abnormal hand morphology ,手形态异常,Any structural anomaly of the hand. ,校对中... +HP:0005923,Abnormalities of the metaphyses of the hand ,手骨干骺端异常, , +HP:0005930,Abnormality of epiphysis morphology ,骨骺形态异常,"An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk. ",校对中... +HP:0005932,Abnormal renal corticomedullary differentiation ,肾皮髓质分界异常,"An abnormality of corticomedullary differentiation (CMD) on diagnostic imaging such as magnetic resonance imaging, computer tomography, or sonography. CMD is a difference in the visualization of cortex and medulla. ",校对中... +HP:0005934,Imperfect vocal cord adduction ,声带内收缺陷, , +HP:0005938,Abnormal respiratory motile cilium morphology ,运动纤毛细胞形态异常,Abnormal arrangement of the structures of the motile cilium. ,校对中... +HP:0005942,Desquamative interstitial pneumonitis ,脱屑间质性肺炎,"Diffuse filling of the distal airsspaces of the lungs, the alveoli, with macrophages. Desquamative interstitial pneumonitis (DIP) is characterized additionally by thickend alveolar septa and by a sparse inflammatory infiltrate that often includes plasma cells and occasional eosinophils. The alveoli are lined by plump cuboidal pneumocytes. Lymphoid aggregates may be present. ",校对中... +HP:0005943,Respiratory arrest ,呼吸骤停, , +HP:0005944,Bilateral lung agenesis ,双肺发育不全,Bilateral lack of development of the lungs. ,校对中... +HP:0005946,Ventilator dependence with inability to wean ,呼吸机依赖无法脱机, , +HP:0005947,Decreased sensitivity to hypoxemia ,低氧血症敏感性减低,Reduced tendency to respond to a reduced concentration of oxygen in the blood by increasing respiration. ,校对中... +HP:0005948,Multiple pulmonary cysts ,多发肺囊肿,The presence of multiple lung cysts. ,校对中... +HP:0005949,Apneic episodes in infancy ,婴儿期呼吸暂停,Recurrent episodes of apnea occurring during infancy. ,校对中... +HP:0005950,Laryngeal web ,喉蹼,A membrane-like structure that extends across the laryngeal lumen close to the level of the vocal cords. ,校对中... +HP:0005951,Progressive inspiratory stridor ,渐进式吸气性喘鸣, , +HP:0005954,Pulmonary capillary hemangiomatosis ,肺毛细血管瘤病, , +HP:0005957,Breathing dysregulation ,呼吸失调, , +HP:0005959,Impaired gluconeogenesis ,糖异生功能障碍,An impairment of gluconeogenesis. ,校对中... +HP:0005961,Hypoargininemia ,低精氨酸血症,A decreased concentration of arginine in the blood. ,校对中... +HP:0005964,Intermittent hypothermia ,间歇性低体温,Episodes of reduced body termperature. ,校对中... +HP:0005967,Mixed respiratory and metabolic acidosis ,混合性呼吸和代谢性酸中毒, , +HP:0005968,Temperature instability ,体温不稳定,"Disordered thermoregulation characterized by an impaired ability to maintain a balance between heat production and heat loss, with resulting instability of body temperature. ",校对中... +HP:0005972,Respiratory acidosis ,呼吸性酸中毒,Acidosis because of respiratory retention of carbon dioxide. ,校对中... +HP:0005973,Fructose intolerance ,果糖不耐受,Reduced intestinal absorption of fructose. Breath testing after ingestion of fructose has been widely adopted as a standard method of identifying fructose malabsorption and intolerance. A dose of 25 g of fructose dissolved in a 10% solution is generally accepted as the appropriate dose of fructose for clinical use of H2 and CH4 breath testing. High levels of hydrogen in exhaled breath subsequent hours indicate fructose intolerance. Presence of malabsorption and reproduction of symptoms during a breath test provides the best objective evidence and symptom correlation for fructose intolerance. ,校对中... +HP:0005974,Episodic ketoacidosis ,阵发性酸中毒,Intermittent episodes of ketoacidosis. ,校对中... +HP:0005976,Hyperkalemic metabolic acidosis ,高钾代谢性酸中毒, , +HP:0005977,Hypochloremic metabolic alkalosis ,低氯性代谢性碱中毒, , +HP:0005978,Type II diabetes mellitus ,2型糖尿病,A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia. ,校对中... +HP:0005979,Metabolic ketoacidosis ,代谢性酮症酸中毒,A metabolic acidosis due to accumulation of ketone bodies generally observed in the setting of poor nutritional intake. ,校对中... +HP:0005984,Elevated maternal serum alpha-fetoprotein ,孕妇血清α-甲胎蛋白水平升高,An elevation of alpha-feto protein in the maternal serum. ,校对中... +HP:0005987,Multinodular goiter ,多结节性甲状腺肿,Enlargement of the thyroid gland related to multiple nodules in the thyroid gland. ,校对中... +HP:0005988,Congenital muscular torticollis ,先天性肌性斜颈,A congenital form of torticollis resulting from shortening of the sternocleidomastoid muscle and leading to a limited range of motion in both rotation and lateral bending. ,校对中... +HP:0005989,Redundant neck skin ,颈部皮肤增厚,"Excess skin around the neck, often lying in horizontal folds. ",校对中... +HP:0005990,Thyroid hypoplasia ,甲状腺发育不良,Developmental hypoplasia of the thyroid gland. ,校对中... +HP:0005991,Limited neck flexion ,颈部屈曲受限,Reduced abilty to lower the chin towards the chest by bending the neck. ,校对中... +HP:0005994,Nodular goiter ,结节性甲状腺肿,Enlargement of the thyroid gland related to one or more nodules in the thyroid gland. ,校对中... +HP:0005995,Decreased adipose tissue around neck ,颈部脂肪组织减少,Reduced amount of adipose tissue in the region of the neck. ,校对中... +HP:0005997,Restricted neck movement due to contractures ,因挛缩致颈部活动受限, , +HP:0005999,Ureteral atresia ,输尿管闭锁,A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. ,校对中... +HP:0006000,Ureteral obstruction ,输尿管梗阻,Obstruction of the flow of urine through the ureter. ,校对中... +HP:0006006,Hypotrophy of the small hand muscles ,手部小肌肉发育不良, , +HP:0006009,Broad phalanx ,指（趾）骨增宽,Increased side-to-side width of one or more phalanges of the fingers or toes. ,校对中... +HP:0006011,Cuboidal metacarpal ,骰子形掌骨,Severely shortened metacarpal with a cuboidal appearance. ,校对中... +HP:0006012,Widened metacarpal shaft ,掌骨干增宽, , +HP:0006014,Abnormally shaped carpal bones ,腕骨形状异常, , +HP:0006016,Delayed phalangeal epiphyseal ossification ,指骨骨骺骨化延迟,Delay in the process of formation and maturation of the epiphysis of one or more phalanx. ,校对中... +HP:0006019,Reduced proximal interphalangeal joint space ,近端指间关节间隙减小, , +HP:0006028,Metaphyseal cupping of metacarpals ,掌骨杯状干骺端,Metaphyseal cupping affecting the metacarpal bones. ,校对中... +HP:0006035,Cone-shaped epiphyses of phalanges 2 to 5 ,第二-第五指指骨锥形骨骺, , +HP:0006040,Long second metacarpal ,第二掌骨过长, , +HP:0006042,Y-shaped metacarpals ,Y形掌骨,"Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly. ",校对中... +HP:0006048,Distal widening of metacarpals ,掌骨远端增宽,Abnormal increase in width of the distal region of the metacarpal bones. ,校对中... +HP:0006051,Metacarpal periosteal thickening ,掌骨骨膜增厚, , +HP:0006055,Ulnar deviated club hands ,向尺骨偏离的曲棍球棒样手, , +HP:0006059,Cone-shaped metacarpal epiphyses ,掌骨锥形骨骺,"A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones. ",校对中... +HP:0006060,Tombstone-shaped proximal phalanges ,墓碑形近端指（趾）骨, , +HP:0006064,Limited interphalangeal movement ,指间运动受限, , +HP:0006067,Multiple carpal ossification centers ,腕骨多骨化中心,A delay in the process of formation and maturation of the epiphysis of one or more long bones. ,校对中... +HP:0006070,Metacarpophalangeal joint contracture ,掌指关节挛缩,"A chronic loss of joint motion in metacarpophalangeal joints due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. ",校对中... +HP:0006077,Absent proximal finger flexion creases ,手指近端屈曲褶痕缺如,Absence of the proximal interphalangeal flexion creases of the fingers. ,校对中... +HP:0006086,Thin metacarpal cortices ,掌骨皮质变薄, , +HP:0006088,1-5 finger complete cutaneous syndactyly ,五个手指完全皮肤性并指, , +HP:0006089,Palmar hyperhidrosis ,出汗不良性湿疹, , +HP:0006092,Malaligned carpal bone ,腕骨错位,"Malalignement of carpal bone angles either with respect to each other, to the corresponding metacarpals or with respect to the wrist (radius and ulna). ",校对中... +HP:0006094,Finger joint hypermobility ,指关节活动过度, , +HP:0006095,Wide tufts of distal phalanges ,远端指骨束增宽, , +HP:0006097,3-4 finger syndactyly ,第三-四指并指,Syndactyly with fusion of fingers three and four. ,校对中... +HP:0006099,Metacarpophalangeal joint hyperextensibility ,掌指关节伸展过度,Increased mobility of one ore more metacarpophalangeal joint. ,校对中... +HP:0006101,Finger syndactyly ,手指并指,"Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as ""bony"" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as ""Symphalangism"". ",校对中... +HP:0006107,Fingerpad telangiectases ,指垫毛细血管扩张,Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers. ,校对中... +HP:0006109,Absent phalangeal crease ,指节间皮肤折痕缺如,"Absence of one or more interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers). ",校对中... +HP:0006110,Shortening of all middle phalanges of the fingers ,所有中节指骨缩短,"Short, hypoplastic middle phalanx of finger, affecting all fingers. ",校对中... +HP:0006112,Expanded phalanges with widened medullary cavities ,髓腔加宽型指（趾）骨膨大, , +HP:0006114,Multiple palmar creases ,多掌褶,"The presence of multiple creases on the palm of the hand (more than the normal three major creases (distal transverse crease, proximal transverse crease, and thenar crease). ",校对中... +HP:0006118,Shortening of all distal phalanges of the fingers ,手指的所有远端指骨缩短,Hypoplasia of all of the distal phalanx of finger. ,校对中... +HP:0006119,Proximal tapering of metacarpals ,掌骨近端逐渐变细,"Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance. ",校对中... +HP:0006121,Acral ulceration ,肢端溃疡,A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe. ,校对中... +HP:0006127,Long proximal phalanx of finger ,近节指骨修长,Increased length of the proximal phalanx of finger. ,校对中... +HP:0006129,Drumstick terminal phalanges ,鼓槌状末节指（趾）骨,Rounding and broadening of the tufts of the distal phalanges. ,校对中... +HP:0006135,Decreased finger mobility ,手指灵活度下降, , +HP:0006136,Bilateral postaxial polydactyly ,双侧轴后性多指/趾, , +HP:0006140,Premature fusion of phalangeal epiphyses ,指骨骨骺过早融合,Fusion of the epiphysis and metaphysis of one or more phalanges prior to the normal age or stage of growth. ,校对中... +HP:0006143,Abnormal finger flexion creases ,手指屈曲褶痕异常, , +HP:0006144,Shortening of all proximal phalanges of the fingers ,近节指骨全部缩短,Congenital hypoplasia of proximal phalanx of finger or all fingers. ,校对中... +HP:0006145,Central Y-shaped metacarpal ,中央Y形掌骨,"A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal. ",校对中... +HP:0006146,Broad metacarpal epiphyses ,掌骨骨骺变宽,Increased side-to-side width of the metacarpal epiphyses. ,校对中... +HP:0006147,Progressive fusion 2nd-5th pip joints ,进行性第二-五指间关节融合, , +HP:0006149,Increased laxity of fingers ,手指过度松弛, , +HP:0006150,Swan neck-like deformities of the fingers ,手指天鹅颈样畸形,"A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformity is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke. ",校对中... +HP:0006152,Proximal symphalangism of hands ,近端指间关节融合,"The term proximal symphalangism refers to a bony fusion of the middle and proximal phalanges of the digits of the hand, in other words the proximal interphalangeal joint (PIJ) is missing which can be seen either on x-rays or as an absence of the proximal interphalangeal finger creases. ",校对中... +HP:0006155,Long phalanx of finger ,长指骨,Increased length of multiple or a single phalanx of finger. ,校对中... +HP:0006159,Mesoaxial hand polydactyly ,中轴多指畸形,The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly. ,校对中... +HP:0006160,Irregular metacarpals ,不规则掌骨,Irregular morphology of one or more metacarpal bones. ,校对中... +HP:0006161,Short metacarpals with rounded proximal ends ,近端圆形的短掌骨, , +HP:0006162,Soft tissue swelling of interphalangeal joints ,指关节间软组织肿胀, , +HP:0006163,Enlarged metacarpophalangeal joints ,掌指关节膨大, , +HP:0006165,Proportionate shortening of all digits ,所有指（趾）等比缩短, , +HP:0006172,"Flattened, squared-off epiphyses of tubular bones ",扁平、方形的管状骨骨骺, , +HP:0006174,Metacarpal diaphyseal endosteal sclerosis ,掌骨骨干骨内膜硬化,Increase in bone density in the diaphyseal (shaft) region of a metacarpal bone. ,校对中... +HP:0006176,Two carpal ossification centers present at birth ,先天性腕骨双骨化中心, , +HP:0006179,Pseudoepiphyses of second metacarpal ,第二掌骨假骨骺, , +HP:0006180,Crowded carpal bones ,腕骨拥挤, , +HP:0006184,Decreased palmar creases ,掌纹减少,Poorly defined or shallow palmar creases. ,校对中... +HP:0006185,Enlarged proximal interphalangeal joints ,近端指间关节增大, , +HP:0006190,Radially deviated wrists ,手腕径向偏离, , +HP:0006191,Deep palmar crease ,掌褶纹深,Excessively deep creases of the palm. ,校对中... +HP:0006193,Thimble-shaped middle phalanges of hand ,顶针状中节指骨,"The middle phalanx of finger resembles a thimble, a small metal cap to protect the finger while sewing that has a broad (proximal) base and narrower top, whereby both base and top are flat. ",校对中... +HP:0006200,Widened distal phalanges ,远端指骨增宽, , +HP:0006201,Hypermobility of distal interphalangeal joints ,远端指(趾)间关节活动过度, , +HP:0006203,Decreased movement range in interphalangeal joints ,指间关节活动范围减小, , +HP:0006206,Hypersegmentation of proximal phalanx of second finger ,第二指近节指骨分节过多,"Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the second finger. ",校对中... +HP:0006207,Partial fusion of carpals ,腕骨部分融合, , +HP:0006208,Metaphyseal cupping of proximal phalanges ,近节指骨杯状干骺端,Metaphyseal cupping affecting the proximal phalanges. ,校对中... +HP:0006213,Thin proximal phalanges with broad epiphyses of the hand ,近端指骨变薄而骨骺增宽, , +HP:0006216,Single interphalangeal crease of fifth finger ,第五指单个皮褶,"Presence of only one (instead of two, as normal) interphalangeal crease of the fifth finger. ",校对中... +HP:0006217,Limited mobility of proximal interphalangeal joint ,近端指（趾）间关节活动受限, , +HP:0006224,Tapering pointed ends of distal finger phalanges ,手指远端指骨末端尖细,A reduction in diameter of the distal phalanx of finger towards the distal end such that the tip of the phalanx comes to a point (this feature can be observed on radiograms). ,校对中... +HP:0006226,Osteoarthritis of the first carpometacarpal joint ,第一腕掌关节骨性关节炎, , +HP:0006228,Valgus hand deformity ,外翻手变形, , +HP:0006232,Expanded metacarpals with widened medullary cavities ,髓质腔加宽型掌骨膨大, , +HP:0006233,Osteoarthritis of the distal interphalangeal joint ,远端指（趾）间关节骨性关节炎, , +HP:0006234,Osteolysis involving tarsal bones ,跗骨骨质溶解,An increased resorption of bone matrix by osteoclasts leading to bony defects involving the tarsal bones. ,校对中... +HP:0006236,Slender metacarpals ,掌骨修长,"Decreased width of the metacarpal bones (that is, reduced diameter). ",校对中... +HP:0006237,Prominent interphalangeal joints ,指（趾）间关节突出, , +HP:0006239,Shortening of all middle phalanges of the toes ,所有中节趾骨缩短,Abnormal shortening of all middle phalanges of toes. ,校对中... +HP:0006243,Phalangeal dislocation ,指（趾）骨错位, , +HP:0006247,Enlarged interphalangeal joints ,指（趾）间关节膨大, , +HP:0006248,Limited wrist movement ,腕部运动受限,An abnormal limitation of the mobility of the wrist. ,校对中... +HP:0006251,Limited wrist extension ,伸腕受限, , +HP:0006252,Interphalangeal joint erosions ,指（趾）间关节侵蚀, , +HP:0006253,Swelling of proximal interphalangeal joints ,近端指（趾）关节肿胀, , +HP:0006254,Elevated alpha-fetoprotein ,α-甲胎蛋白升高,An increased concentration of alpha-fetoprotein. ,校对中... +HP:0006256,Abnormality of hand joint mobility ,手关节活动度异常, , +HP:0006261,Abnormal phalangeal joint morphology of the hand ,指（趾）骨关节形态异常, , +HP:0006262,Aplasia/Hypoplasia of the 5th finger ,第五指发育不良/发育不全,A small/hypoplastic or absent/aplastic 5th finger. ,校对中... +HP:0006265,Aplasia/Hypoplasia of fingers ,手指发育不良/发育不全,Small/hypoplastic or absent/aplastic fingers. ,校对中... +HP:0006266,Small placenta ,小胎盘,Reduced size of the placenta. ,校对中... +HP:0006267,Large placenta ,大胎盘,Increased size of the placenta. ,校对中... +HP:0006268,Fluctuating splenomegaly ,间歇性脾肿大,Intermittently increased size of the spleen. ,校对中... +HP:0006270,Hypoplastic spleen ,脾脏发育不全,Underdevelopment of the spleen. ,校对中... +HP:0006274,Reduced pancreatic beta cells ,胰腺β细胞减少,Reduced number of beta cells in the pancreatic islets of Langerhans. ,校对中... +HP:0006276,Hyperechogenic pancreas ,胰腺高回声, , +HP:0006277,Pancreatic hyperplasia ,胰腺增生,Hyperplasia of the pancreas. ,校对中... +HP:0006279,Beta-cell dysfunction ,β细胞功能障碍, , +HP:0006280,Chronic pancreatitis ,慢性胰腺炎,A chronic form of pancreatitis. ,校对中... +HP:0006283,Multiple unerupted teeth ,多个未萌出牙,The presence of multiple embedded tooth germs which have failed to erupt. ,校对中... +HP:0006285,Enamel hypomineralization ,牙釉质矿化不足,A decreased amount of enamel mineralization. Hypomineralized enamel has a brown discoloration and brittle aspect. ,校对中... +HP:0006286,Yellow-brown discoloration of the teeth ,棕黄色牙, , +HP:0006288,Advanced eruption of teeth ,牙齿过早萌出,"Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age. ",校对中... +HP:0006289,Agenesis of central incisor ,中切牙发育不全,"Agenesis of one or more central incisors, i.e., of lower secondary incisor, lower primary incisor, upper secondary incisor, or of upper central primary incisor. ",校对中... +HP:0006292,Abnormality of dental eruption ,牙萌出异常,An abnormality of tooth eruption. ,校对中... +HP:0006297,Enamel hypoplasia ,牙釉质发育不全,Developmental hypoplasia of the dental enamel. ,校对中... +HP:0006298,Prolonged bleeding after dental extraction ,拔牙后出血时间延长,Prolonged bleeding post dental extraction sufficient to require medical intervention. ,校对中... +HP:0006302,Dagger-shaped pulp calcifications ,匕首状牙髓钙化,Dagger-shaped calcifications in the dental pulp. ,校对中... +HP:0006304,Widely-spaced incisors ,切牙间隙过宽, , +HP:0006308,Atrophy of alveolar ridges ,牙槽嵴萎缩, , +HP:0006311,Generalized microdontia ,泛发性小牙畸形,A generalized form of microdontia. ,校对中... +HP:0006313,Widely spaced primary teeth ,乳牙间隙增宽,Increased space between the primary teeth. Note this phenotype should be distinguished from increased space due purely to microdontia. ,校对中... +HP:0006315,Solitary median maxillary central incisor ,单个上门齿,A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors. ,校对中... +HP:0006316,Irregularly spaced teeth ,牙齿间隔不规则,"Irregular distribution of the teeth along the dental arch, i.e., and irregular spatial pattern of teeth. ",校对中... +HP:0006323,Premature loss of primary teeth ,乳牙过早脱落,Loss of the primary (also known as deciduous) teeth before the usual age. ,校对中... +HP:0006332,Supernumerary maxillary incisor ,上颌骨多生中切牙,"The presence of a supernumerary, i.e., extra, maxillary incisor, either the primary maxillary incisor or the permanent maxillary incisor. ",校对中... +HP:0006334,Hypoplasia of the primary teeth ,乳牙发育不全,Developmental hypoplasia of the primary teeth. ,校对中... +HP:0006335,Persistence of primary teeth ,乳牙存留,Persistence of the primary teeth beyond the age by which they normally are shed and replaced by the permanent teeth. ,校对中... +HP:0006336,Short dental root ,短牙根,"Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length. ",校对中... +HP:0006342,Peg-shaped maxillary lateral incisors ,钉形上颌侧切牙,A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter ,校对中... +HP:0006344,Abnormality of primary molar morphology ,乳臼齿形态异常,An abnormality of morphology of primary molar. ,校对中... +HP:0006346,Screwdriver-shaped incisors ,螺丝刀状门齿,"An abnormality of morphology of the incisor tooth in which the tooth is shaped like a screwdriver blade, i.e., having a rhomboid shape. ",校对中... +HP:0006347,Microdontia of primary teeth ,小乳牙畸形,Decreased size of the primary teeth. ,校对中... +HP:0006349,Agenesis of permanent teeth ,恒牙发育不全,"A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the of permanent teeth. ",校对中... +HP:0006350,Pulp obliteration ,牙髓腔闭塞,Mineralized substance filling the entire dental pulp space. ,校对中... +HP:0006352,Failure of eruption of permanent teeth ,恒牙萌出失败,Lack of tooth eruption of the secondary dentition. ,校对中... +HP:0006353,Hypoplasia of the tooth germ ,牙胚发育不全,"Developmental hypoplasia of the tooth germ, i.e., of the structure that forms in odontogenesis that will develop into a tooth. ",校对中... +HP:0006355,Agenesis of mandibular central incisor ,下颌中切牙发育不全,Agenesis of lower secondary incisor or lower primary incisor. ,校对中... +HP:0006357,Premature loss of permanent teeth ,恒牙过早脱落,Premature loss of the permanent teeth. ,校对中... +HP:0006361,Irregular femoral epiphysis ,股骨骨骺不规则, , +HP:0006362,Varus deformity of humeral neck ,肱骨颈内翻畸形, , +HP:0006366,Adductor longus contractures ,内收长肌挛缩, , +HP:0006367,Crumpled long bones ,褶皱性长骨,"An crumpled radiographic appearance of the long bones, as if the long bone had been crushed together producing irregularities. This feature is the result of multiple fractures and repeated rounds of ineffective healing, as can be seen for instance in severe forms of osteogenesis imperfecta. ",校对中... +HP:0006368,Forearm reduction defects ,前臂缩小缺陷, , +HP:0006371,Broad long bone diaphyses ,长骨骨干变宽,Increased width of the diaphysis of long bones. ,校对中... +HP:0006375,Dumbbell-shaped femur ,哑铃状股骨,The femur is shortened and displays flaring (widening) of the metaphyses. ,校对中... +HP:0006376,Limited elbow flexion ,屈肘受限, , +HP:0006379,Proximal tibial hypoplasia ,胫骨近端发育不全, , +HP:0006380,Knee flexion contracture ,膝关节屈曲挛缩,A bent (flexed) knee joint that cannot be straightened actively or passively. ,校对中... +HP:0006381,Rudimentary fibula ,腓骨发育不良,Absent or nearly absent fibula. (Does not include aplastic) ,校对中... +HP:0006383,Progressive bowing of long bones ,长骨进行性弯曲,Progressive bending or abnormal curvature of a long bone. ,校对中... +HP:0006384,Club-shaped distal femur ,棒状股骨远端,An abnormal conformation of the femur that becomes gradually enlarged towards the distal end. This feature affects the distal femoral metaphysis and epiphysis. ,校对中... +HP:0006385,Short lower limbs ,下肢短,Shortening of the legs related to developmental hypoplasia of the bones of the leg. ,校对中... +HP:0006386,Hypoplastic distal radial epiphyses ,桡骨远端骨骺发育不良,Underdevelopment of the distal epiphysis of the radius. ,校对中... +HP:0006387,Wide distal femoral metaphysis ,股骨远端干骺端增宽,Increased width of the distal part of the shaft (metaphysis) of the femur. ,校对中... +HP:0006389,Limited knee flexion ,膝关节屈曲受限,Reduced ability to flex (bend) the knee joint. ,校对中... +HP:0006390,Anterior tibial bowing ,胫骨向前弯曲,An abnormal anterior bending or curvature of the tibia. ,校对中... +HP:0006391,Overtubulated long bones ,纤细长骨,"Overconstriction, or narrowness of the diaphysis and metaphysis of long bones. ",校对中... +HP:0006392,Increased density of long bones ,长骨骨密度增加,An abnormal increase in the bone density of the long bones. ,校对中... +HP:0006394,Limited pronation/supination of forearm ,前臂旋前或旋后受限,A limitation of the ability to place the forearm in a position such that the palm faces anteriorly (supination) and to place the forearm in a position such that the palm faces posteriorly (pronation). ,校对中... +HP:0006397,Lateral displacement of patellae ,髌骨侧向脱位, , +HP:0006398,Flat distal femoral epiphysis ,股骨远端骨骺扁平,An abnormal flattening of the distal epiphysis of femur. ,校对中... +HP:0006400,Absent knee epiphyses ,膝关节骨骺缺失, , +HP:0006402,Distal shortening of limbs ,四肢远端缩短, , +HP:0006406,Club-shaped proximal femur ,棒状股骨近端,An abnormal conformation of the femur that becomes gradually enlarged towards the proximal end. This feature affects the proximal femoral metaphysis and epiphysis. ,校对中... +HP:0006407,Irregular distal femoral epiphysis ,股骨远端骨骺不规则,Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular. ,校对中... +HP:0006408,Distal tapering femur ,股骨远端逐渐变细, , +HP:0006409,Progressive leg bowing ,渐进式腿部弯曲,Progressive bending or abnormal curvature of the leg. ,校对中... +HP:0006414,Distal tibial bowing ,胫骨远端弯曲,A bending or abnormal curvature of the distal portion of the tibia. ,校对中... +HP:0006415,Cortically dense long tubular bones ,长管骨皮质密度增加,Increased density of the compact bone of long bone. ,校对中... +HP:0006417,Broad femoral metaphyses ,股骨干骺端变宽, , +HP:0006423,Peg-like central prominence of distal tibial metaphyses ,胫骨远端干骺端钉状中央突出, , +HP:0006424,Elongated radius ,增长的桡骨,Increased length of the radius. ,校对中... +HP:0006426,Rudimentary to absent tibiae ,胫骨发育不良以至缺如, , +HP:0006429,Broad femoral neck ,股骨颈变宽,"An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). ",校对中... +HP:0006431,Proximal femoral metaphyseal abnormality ,股骨近端干骺端异常,An anomaly of the metaphysis of the proximal femur (close to the hip). ,校对中... +HP:0006432,Trapezoidal distal femoral condyles ,股骨远端楔形髁突, , +HP:0006434,Hypoplasia of proximal radius ,近端桡骨发育低下,Proximal radial shortening owing to a congenital defect of development. ,校对中... +HP:0006437,Disproportionate prominence of the femoral medial condyle ,股骨内侧髁不成比例的突出, , +HP:0006438,Enlargement of the distal femoral epiphysis ,股骨远端骨骺膨大,An abnormal enlargement of the distal epiphysis of the femur. ,校对中... +HP:0006439,Radioulnar dislocation ,尺桡关节脱位, , +HP:0006440,Increased density of long bone diaphyses ,长骨骨干骨密度增加, , +HP:0006442,Hypoplasia of proximal fibula ,腓骨近端发育不良,Underdevelopment or shortening of the end of the fibula (calf bone) nearest the knee. ,校对中... +HP:0006443,Patellar aplasia ,髌骨发育不全,Absence of the patella. ,校对中... +HP:0006446,Dysplastic patella ,髌骨发育不良, , +HP:0006450,Multicentric ossification of proximal femoral epiphyses ,股骨近端骨骺多中心骨化, , +HP:0006453,Lateral displacement of the femoral head ,股骨头横向移位,A developmental anomaly with lateral displacement of the femoral head. ,校对中... +HP:0006454,Delayed patellar ossification ,髌骨骨化延迟,Formation of bone in the patella later than normal. ,校对中... +HP:0006456,Irregular proximal tibial epiphyses ,胫骨近端骨骺不规则,Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular. ,校对中... +HP:0006459,Dorsal subluxation of ulna ,尺骨背侧半脱位,Partial dislocation of the ulna in the dorsal direction. ,校对中... +HP:0006460,Increased laxity of ankles ,脚踝松弛度增加, , +HP:0006461,Proximal femoral epiphysiolysis ,股骨近端骨骺生理溶解,"Slipped capital femoral epiphysis is defined as a posterior and inferior slippage of the proximal epiphysis of the femur onto the metaphysis (femoral neck), occurring through the physeal plate during the early adolescent growth spurt. ",校对中... +HP:0006462,Generalized bone demineralization ,广泛性骨矿质密度降低,A generalized decrease in bone mineral density. ,校对中... +HP:0006463,Rickets of the lower limbs ,下肢佝偻病, , +HP:0006465,Periosteal thickening of long tubular bones ,长管状骨骨膜增厚,Thickening of the periosteum of long bone. ,校对中... +HP:0006466,Ankle flexion contracture ,踝关节屈曲挛缩,"A chronic loss of ankle joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the ankle. ",校对中... +HP:0006467,Limited shoulder movement ,肩部活动受限,A limitation of the range of movement of the shoulder joint. ,校对中... +HP:0006470,Thin long bone diaphyses ,长骨骨干纤细,Decreased width of the diaphysis of long bones. ,校对中... +HP:0006471,Fixed elbow flexion ,肘关节曲位固定, , +HP:0006473,Anterior bowing of long bones ,长骨向前弯曲,An abnormal anterior curvature of a long bone. ,校对中... +HP:0006476,Abnormality of the pancreatic islet cells ,胰岛细胞异常,"An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. ",校对中... +HP:0006477,Abnormality of the alveolar ridges ,牙槽嵴异常,Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth. ,校对中... +HP:0006479,Abnormal dental pulp morphology ,牙髓形态异常,An abnormality of the dental pulp. ,校对中... +HP:0006480,Premature loss of teeth ,牙齿过早脱落,Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. ,校对中... +HP:0006481,Abnormality of primary teeth ,乳牙异常,Any abnormality of the primary tooth. ,校对中... +HP:0006482,Abnormality of dental morphology ,牙齿形态异常,An abnormality of the morphology of the tooth. ,校对中... +HP:0006483,Abnormal number of teeth ,牙齿数目异常,The presence of an altered number of of teeth. ,校对中... +HP:0006485,Agenesis of incisor ,切牙发育不全,Agenesis of incisor. ,校对中... +HP:0006487,Bowing of the long bones ,长骨弯曲,A bending or abnormal curvature of a long bone. ,校对中... +HP:0006488,Bowing of the arm ,手臂弯曲,A bending or abnormal curvature affecting a long bone of the arm. ,校对中... +HP:0006489,Abnormality of the femoral metaphysis ,股骨干骺端异常,An anomaly of the femoral metaphysis. ,校对中... +HP:0006490,Abnormality of lower-limb metaphyses ,下肢干骺端异常, , +HP:0006491,Abnormality of the tibial metaphysis ,胫骨干骺端异常, , +HP:0006492,Aplasia/Hypoplasia of the fibula ,腓骨发育不良/发育不全,Absence or underdevelopment of the fibula. ,校对中... +HP:0006495,Aplasia/Hypoplasia of the ulna ,尺骨发育不良/发育不全,Absence or underdevelopment of the ulna. ,校对中... +HP:0006498,Aplasia/Hypoplasia of the patella ,髌骨发育不良/发育不全,Absence or underdevelopment of the patella. ,校对中... +HP:0006499,Abnormality of femoral epiphysis ,股骨骨骺异常,An anomaly of a growth plate of a femur. ,校对中... +HP:0006501,Aplasia/Hypoplasia of the radius ,桡骨发育不良/发育不全,A small/hypoplastic or absent/aplastic radius. ,校对中... +HP:0006502,Aplasia/Hypoplasia involving the carpal bones ,腕骨发育不良/发育不全,Absence or underdevelopment of the carpal bones. ,校对中... +HP:0006507,Aplasia/hypoplasia of the humerus ,肱骨发育不良/发育不全,Absence (due to failure to form) or underdevelopment of the humerus. ,校对中... +HP:0006508,Abnormality of tibial epiphyses ,胫骨骨骺异常, , +HP:0006510,Chronic pulmonary obstruction ,慢性阻塞性肺疾病,"An anomaly that is characterized progressive airflow obstruction that is only partly reversible, inflammation in the airways, and systemic effects or comorbities. ",校对中... +HP:0006511,Laryngeal stridor ,喉喘鸣,"An abnormal high-pitched noisy sound, occurring during inhalation or exhalation caused by the incomplete obstruction in the throat. ",校对中... +HP:0006514,Intraalveolar nodular calcifications ,肺泡内结节性钙化, , +HP:0006515,Interstitial pneumonitis ,间质性肺炎, , +HP:0006516,Hypersensitivity pneumonitis ,过敏性肺炎,"Hypersensitivity pneumonitis involves inhalation of an antigen. This leads to an exaggerated immune response and a following inflammation of the alveoli within the lungs. The main feature of chronic hypersensitivity pneumonitis on lung biopsies is expansion of the interstitium by lymphocytes accompanied by an occasional multinucleated giant cell or loose granuloma. After exposure to the provoking antigen, following symptoms can be seen: fever, chills, malaise, cough, hemoptysis, chest tightness, dyspnea, rash, swelling and headache and can be completely reversible, based on the duration of the illness, categorized as acute (HP:0011009), subacute (HP:0011011), and chronic (HP:0011010). ",校对中... +HP:0006517,Intraalveolar phospholipid accumulation ,肺泡蛋白沉积症,"Accumulation of amorphous PAS-positive material in the space betweem alveolar macrophages, sometimes as condensed form (oval bodies) are typically found in alveolar proteinosis. ",校对中... +HP:0006518,Pulmonary venous occlusion ,肺静脉闭塞,Substantial narrowing or blockage of small pulmonary veins as a result of disorganized smooth muscle hypertrophy and collagen matrix deposition. ,校对中... +HP:0006519,Alveolar cell carcinoma ,肺泡细胞癌,Adenocarcinoma of the Bronchus. ,校对中... +HP:0006520,Progressive pulmonary function impairment ,进行性肺功能受损, , +HP:0006521,Pulmonary lymphangiectasia ,肺淋巴管扩张,"Abnormal dilatation of the pulmonary lymphatic vessels. Lymphatic fluid in the lung is derived from normal leakage of fluid out of the blood capillaries in the lung. In pulmonary lymphangiectasia, the pulmonary lymphatics are not properly connected and become dilated with fluid. ",校对中... +HP:0006522,Repeated pneumothoraces ,反复气胸, , +HP:0006524,Tracheobronchial leiomyomatosis ,气管，支气管平滑肌瘤病, , +HP:0006527,Lymphocytic interstitial pneumonia ,淋巴细胞性间质性肺炎,"Lymphocytic interstitial pneumonitis is a benign lymphoproliferative disorder of the lung that is characterized by the presence of a dense, predominantly lymphocytic interstitial infiltrate (lymphocytes, plasma cells, other elements of the lymphoreticular system) that expands the alveolar septa. ",校对中... +HP:0006528,Chronic lung disease ,慢性肺病,"According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. ",校对中... +HP:0006530,Abnormal pulmonary interstitial morphology ,肺间质形态异常,Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. ,校对中... +HP:0006531,Pleural lymphangiectasia ,胸膜淋巴管扩张, , +HP:0006532,Recurrent pneumonia ,反复肺炎,An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. ,校对中... +HP:0006535,Recurrent intrapulmonary hemorrhage ,复发性肺内出血,A recurrent hemorrhage occurring within the lung. ,校对中... +HP:0006536,Airway obstruction ,气道阻塞,Obstruction of conducting airways of the lung. ,校对中... +HP:0006538,Recurrent bronchopulmonary infections ,反复支气管肺感染,An increased susceptibility to bronchopulmonary infections as manifested by a history of recurrent bronchopulmonary infections. ,校对中... +HP:0006543,Cardiorespiratory arrest ,心跳呼吸骤停, , +HP:0006548,Pulmonary arteriovenous malformation ,肺动静脉畸形,"Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins. ",校对中... +HP:0006549,Unilateral primary pulmonary dysgenesis ,单侧原发性肺动脉发育不良, , +HP:0006552,Fibrocystic lung disease ,纤维囊性肺疾病, , +HP:0006554,Acute hepatic failure ,急性肝功能衰竭,"Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver. ",校对中... +HP:0006555,Diffuse hepatic steatosis ,弥漫性肝脂肪变性,A diffuse form of hepatic steatosis. ,校对中... +HP:0006557,Polycystic liver disease ,多囊性肝病, , +HP:0006558,Decreased mitochondrial complex III activity in liver tissue ,肝组织线粒体复合物III活性降低,Decreased activity of complex III of the mitochondrion in the liver. ,校对中... +HP:0006559,Hepatic calcification ,肝钙化,The presence of abnormal calcium deposition in the liver. ,校对中... +HP:0006560,Biliary hyperplasia ,胆管增生,"Hyperplasia of the biliary tree, as manifested by increased size of bile ducts, dilated lumen, and histologically by an increased number of epithelial cells or hyperplasia. ",校对中... +HP:0006561,Lipid accumulation in hepatocytes ,肝细胞内脂质堆积, , +HP:0006562,Viral hepatitis ,病毒性肝炎,Inflammation of the liver due to infection with a virus. ,校对中... +HP:0006563,Malformation of the hepatic ductal plate ,肝管板畸形, , +HP:0006564,Fluctuating hepatomegaly ,间歇性肝肿大,Intermittently increased size of the liver. ,校对中... +HP:0006565,Increased hepatocellular lipid droplets ,肝细胞内脂滴增加,An abnormal increase in the amount of intracellular lipid droplets in hepatocytes. ,校对中... +HP:0006566,Neonatal cholestatic liver disease ,新生儿胆汁淤积性肝病, , +HP:0006568,Increased hepatic glycogen content ,肝糖原含量增高,An increase in the amount of glycogen stored in hepatocytes compared to normal. ,校对中... +HP:0006571,Reduced number of intrahepatic bile ducts ,肝内胆管数量减少,The presence of reduced numbers of intrahepatic bile duct than normal. ,校对中... +HP:0006572,Subacute progressive viral hepatitis ,亚急性进行性病毒性肝炎, , +HP:0006573,Acute hepatic steatosis ,急性肝脂肪变性,An acute form of hepatic steatosis. ,校对中... +HP:0006574,Hepatic arteriovenous malformation ,肝动静脉畸形, , +HP:0006575,Intrahepatic cholestasis with episodic jaundice ,肝内胆汁淤积伴发作性黄疸, , +HP:0006576,Hepatic vascular malformations ,肝脏血管畸形, , +HP:0006577,Macronodular cirrhosis ,大结节性肝硬化,A type of cirrhosis characterized by the presence of large regenerative nodules. ,校对中... +HP:0006579,Prolonged neonatal jaundice ,新生儿黄疸期延长,Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of increased concentrations of bilirubin in the blood. Neonatal jaundice affects over half of all newborns to some extent in the first week of life. Prolonged neonatal jaundice is said to be present if the jaundice persists for longer than 14 days in term infants and 21 days in preterm infants. ,校对中... +HP:0006580,Portal fibrosis ,汇管区纤维化,Fibroblast proliferation and fiber expansion from the portal areas to the lobule. ,校对中... +HP:0006581,Depletion of mitochondrial DNA in liver ,肝脏线粒体DNA缺失,An abnormal reduction in the number of mitochondria in hepatocytes. ,校对中... +HP:0006582,Reye syndrome-like episodes ,Reye综合征样发作,Repeated occurrences of acute noninflammatory encephalopathy and fatty degenerative liver failure. ,校对中... +HP:0006583,Fatal liver failure in infancy ,婴儿期致命性肝功能衰竭, , +HP:0006584,Small abnormally formed scapulae ,小的异常形成的肩胛骨, , +HP:0006585,Congenital pseudoarthrosis of the clavicle ,先天性锁骨假关节,"The two portions of the clavicle (corresponding to the two primary ossification centers of the clavicle) are connected by a fibrous bridge that is contiguous with the periosteum, and a synovial membrane develops, resulting in a clavicle with a bipartite appearance radiographically. Congenital pseudarthrosis of the clavicle generally presents as a painless mass or swelling over the clavicle. ",校对中... +HP:0006587,Straight clavicles ,锁骨平直,"An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved . ",校对中... +HP:0006589,Flaring of lower rib cage ,下部肋缘外翻, , +HP:0006591,Absent glenoid fossa ,关节窝缺如,"Lack of development of the glenoid fossa, also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus. ",校对中... +HP:0006593,Anomalous rib insertion to vertebrae ,肋骨插入椎骨异常, , +HP:0006595,Scapulohumeral synostosis ,肩胛肱骨关节融合,"Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint. ",校对中... +HP:0006596,Restricted chest movement ,胸廓活动受限, , +HP:0006597,Diaphragmatic paralysis ,膈肌麻痹,The presence of a paralyzed diaphragm. ,校对中... +HP:0006598,Irregular ossification at anterior rib ends ,肋骨前端不规则骨化, , +HP:0006600,Progressive calcification of costochondral cartilage ,进行性肋软骨钙化, , +HP:0006603,"Flared, irregular rib ends ",喇叭状不规则肋骨端, , +HP:0006608,Midclavicular hypoplasia ,锁骨中部发育不全,Underdevelopment of the middle portion of the clavicle. ,校对中... +HP:0006610,Wide intermamillary distance ,乳头间距宽,A larger than usual distance between the left and right nipple. ,校对中... +HP:0006615,Absent in utero rib ossification ,宫内肋骨未骨化,Lack of formation and mineralization of the ribs in utero. ,校对中... +HP:0006619,Anterior rib punctate calcifications ,肋骨前端点状钙化,Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. ,校对中... +HP:0006628,Absent sternal ossification ,胸骨骨化缺如,Lack of formation of mineralized bony tissue of the sternum. ,校对中... +HP:0006633,Glenoid fossa hypoplasia ,关节窝发育不全,"Underdevelopment of the glenoid fossa, which is the cavity in the lateral part of the scapula which articulates with the head of the humerus. ",校对中... +HP:0006634,Osteosclerosis of ribs ,肋骨硬化,Osteosclerosis of ribs (increased density related to increased bone mass). ,校对中... +HP:0006637,Sternal punctate calcifications ,胸骨点状钙化, , +HP:0006638,Midclavicular aplasia ,锁骨中部发育不全,Developmental defect resulting in congenital absence of the middle portion of the clavicle. ,校对中... +HP:0006640,Multiple rib fractures ,多发性肋骨骨折,More than one fracture of the ribs. ,校对中... +HP:0006641,Prominent floating ribs ,游离肋突出, , +HP:0006642,Large sternal ossification centers ,大胸骨骨化中心, , +HP:0006643,Fused sternal ossification centers ,胸骨骨化中心融合, , +HP:0006644,Thoracic dysplasia ,胸廓发育不良, , +HP:0006645,Thin clavicles ,锁骨细小,Abnormally reduced diameter (cross section) of the clavicles. ,校对中... +HP:0006646,Costal cartilage calcification ,肋软骨钙化,"Calcification of the costal cartilages, which are bars of hyaline cartilage found at the anterior ends of the ribs which serve to prolong the ribs forward and contribute to the elasticity of the walls of the thorax. ",校对中... +HP:0006650,Thickening of the lateral border of the scapula ,肩胛骨外侧缘增厚, , +HP:0006655,Rib segmentation abnormalities ,肋骨分节异常, , +HP:0006657,Hypoplasia of first ribs ,第一肋发育不全, , +HP:0006659,Internally rotated shoulders ,内旋肩, , +HP:0006660,Aplastic clavicle ,锁骨发育不全,Absence of the clavicles as a developmental defect. ,校对中... +HP:0006665,Coat hanger sign of ribs ,衣架样肋骨,"An abnormal morphology of the ribs consisting of shorted, abnormally curved ribs. On posteroanterior chest radiography, the ribs show a curvature resembling that of a coat hanger (clothes hanger). ",校对中... +HP:0006668,Twelfth rib hypoplasia ,第十二肋发育不全, , +HP:0006670,Impaired myocardial contractility ,心肌收缩力受损, , +HP:0006671,Paroxysmal atrial tachycardia ,阵发性房性心动过速, , +HP:0006673,Reduced systolic function ,心收缩功能降低, , +HP:0006677,Prolonged QRS complex ,QRS波群延长,"Increased time for the complex comprised of the Q wave, R wave, and S wave as measured by the electrocardiogram (EKG).. In adults, normal values are 0.06 - 0.10 sec. ",校对中... +HP:0006682,Ventricular extrasystoles ,室性期外收缩,Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node. ,校对中... +HP:0006684,Ventricular preexcitation with multiple accessory pathways ,多旁路心室预激综合征,A form of ventricular preexcitation due to the presence of multiple accessory pathways for cardiac conduction. ,校对中... +HP:0006685,Endocardial fibrosis ,心内膜纤维化,The presence of excessive connective tissue in the endocardium. ,校对中... +HP:0006687,Aortic tortuosity ,主动脉迂曲,"Abnormal tortuous (i.e., twisted) form of the aorta. ",校对中... +HP:0006689,Bacterial endocarditis ,细菌性心内膜炎,"A bacterial infection of the endocardium, the inner layer of the heart, which usually involves the heart valves. ",校对中... +HP:0006690,Myocardial calcification ,心肌钙化,Calcium deposition in the myocardium. ,校对中... +HP:0006691,Pulmonic valve myxoma ,肺动脉瓣粘液瘤, , +HP:0006692,Short chordae tendineae of the tricuspid valve ,三尖瓣短腱索,Abnormally short chordae tendineae of the tricuspid valve. ,校对中... +HP:0006693,Myocardial steatosis ,心肌脂肪变性,Steatosis in the myocardium. ,校对中... +HP:0006695,Atrioventricular canal defect ,房室管缺损,A defect of the atrioventricular septum of the heart. ,校对中... +HP:0006696,Polymorphic and polytopic ventricular extrasystoles ,多态性及多发性室性期前收缩, , +HP:0006698,Dilatation of the ventricular cavity ,心室腔扩张,A localized outpouching of ventricular cavity that is generally associated with dyskinesia and paradoxical expansion during systole. ,校对中... +HP:0006699,Premature atrial contractions ,房性早搏,A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. ,校对中... +HP:0006702,Coronary artery dissection ,冠状动脉夹层,Acute occurrence of a dissection (tear within the tunica intima and entry of blood into the tunica media) of a coronary artery. ,校对中... +HP:0006703,Aplasia/Hypoplasia of the lungs ,肺发育缺陷/不全, , +HP:0006706,Cystic liver disease ,囊性肝病, , +HP:0006707,Abnormality of the hepatic vasculature ,肝脏血管异常,An abnormality of the hepatic vasculature. ,校对中... +HP:0006709,Aplasia/Hypoplasia of the nipples ,乳头发育不全/不良, , +HP:0006710,Aplasia/Hypoplasia of the clavicles ,锁骨发育不良/发育不全,Absence or underdevelopment of the clavicles (collar bones). ,校对中... +HP:0006712,Aplasia/Hypoplasia of the ribs ,肋骨发育不良/发育不全, , +HP:0006713,Aplasia/Hypoplasia of the scapulae ,肩胛骨发育不良/发育不全, , +HP:0006714,Aplasia/Hypoplasia of the sternum ,胸骨发育不良/发育不全, , +HP:0006715,Glomus tympanicum paraganglioma ,鼓室副神经节瘤, , +HP:0006716,Hereditary nonpolyposis colorectal carcinoma ,遗传性非息肉性结直肠癌, , +HP:0006719,Benign gastrointestinal tract tumors ,良性胃肠道肿瘤, , +HP:0006721,Acute lymphoblastic leukemia ,急性淋巴细胞白血病,A form of acute leukemia characterized by excess lympoblasts. ,校对中... +HP:0006722,Small intestine carcinoid ,小肠类癌, , +HP:0006723,Intestinal carcinoid ,肠道类癌, , +HP:0006725,Pancreatic adenocarcinoma ,胰腺腺癌,The presence of an adenocarcinoma of the pancreas. ,校对中... +HP:0006727,T-cell acute lymphoblastic leukemias ,T细胞急性淋巴细胞白血病,Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. ,校对中... +HP:0006731,Follicular thyroid carcinoma ,甲状腺滤泡癌,The presence of an follicular adenocarcinoma of the thyroid gland. ,校对中... +HP:0006732,Papillary renal cell carcinoma type 2 ,Ⅱ型乳头状肾细胞癌,"A type of papillary renal cell carcinoma in which the papillae are covered by large eosinophilic cells with pleomorphic nuclei, prominent nucleoli, and nuclear pseudostratification. ",校对中... +HP:0006733,Acute megakaryocytic leukemia ,急性巨核细胞白血病,A rare subtype of acute myeloid leukemia evolving from primitive megakaryoblasts. ,校对中... +HP:0006735,Renal cortical adenoma ,肾皮质腺瘤,The presence of an adenoma in the cortex of the kidney. ,校对中... +HP:0006737,Extraadrenal pheochromocytoma ,异位嗜铬细胞瘤,Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia. ,校对中... +HP:0006739,Squamous cell carcinoma of the skin ,皮肤鳞状上皮细胞癌,Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium. ,校对中... +HP:0006740,Transitional cell carcinoma of the bladder ,膀胱移行细胞癌,The presence of a carcinoma of the urinary bladder with origin in a transitional epithelial cell. ,校对中... +HP:0006743,Embryonal rhabdomyosarcoma ,胚胎横纹肌肉瘤, , +HP:0006744,Adrenocortical carcinoma ,肾上腺皮质癌,"A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone. ",校对中... +HP:0006747,Ganglioneuroblastoma ,神经节神经母细胞瘤, , +HP:0006748,Adrenal pheochromocytoma ,肾上腺嗜铬细胞瘤,Pheochromocytoma originating from the adrenal medulla. ,校对中... +HP:0006753,Neoplasm of the stomach ,胃新生物,A tumor (abnormal growth of tissue) of the stomach. ,校对中... +HP:0006755,Cutaneous leiomyosarcoma ,皮肤平滑肌肉瘤,The presence of leiomyosarcoma of the skin. ,校对中... +HP:0006756,Diffuse leiomyomatosis ,弥漫性平滑肌瘤病, , +HP:0006758,Malignant genitourinary tract tumor ,恶性泌尿生殖道肿瘤,The presence of a malignant neoplasm of the genital system. ,校对中... +HP:0006763,Anal canal squamous carcinoma ,肛管鳞状细胞癌, , +HP:0006765,Chondrosarcoma ,软骨肉瘤,A slowly growing malignant neoplasm derived from cartilage cells. ,校对中... +HP:0006766,Papillary renal cell carcinoma ,乳头状肾细胞癌,The presence of renal cell carcinoma in the renal papilla. ,校对中... +HP:0006767,Pituitary prolactin cell adenoma ,垂体泌乳素腺瘤,"A type of pituitary adenoma originating in prolactin secreting cells. This kind of adenoma is characterized by overproduction of prolactin, and may cause loss of menstrual periods and breast milk production in women. ",校对中... +HP:0006768,Localized neuroblastoma ,局灶神经母细胞瘤, , +HP:0006769,Myxoid subcutaneous tumors ,粘液样皮下肿瘤, , +HP:0006770,Clear cell renal cell carcinoma ,肾透明细胞癌,A subtype of renal cell carcinoma thought to originate from mature renal tubular cells in the proximal tubule of the nehpron. ,校对中... +HP:0006771,Duodenal adenocarcinoma ,十二指肠腺癌,A malignant epithelial tumor with a glandular organization that originates in the duodenum. ,校对中... +HP:0006772,Renal angiomyolipoma ,肾血管平滑肌脂肪瘤,"A benign renal neoplasm composed of fat, vascular, and smooth muscle elements. ",校对中... +HP:0006774,Ovarian papillary adenocarcinoma ,卵巢乳头状腺癌,The presence of a papillary adenocarcinoma of the ovary. ,校对中... +HP:0006775,Multiple myeloma ,多发性骨髓瘤,A malignant plasma cell tumor growing within soft tissue or within the skeleton. ,校对中... +HP:0006778,Benign genitourinary tract neoplasm ,泌尿生殖道良性肿瘤,A non-malignant neoplasm of the genitourinary system. ,校对中... +HP:0006779,Alveolar rhabdomyosarcoma ,腺泡型横纹肌肉瘤, , +HP:0006780,Parathyroid carcinoma ,甲状旁腺癌,"A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. ",校对中... +HP:0006781,Hurthle cell thyroid adenoma ,嗜酸细胞甲状腺腺瘤,A kind of thyroid adenoma characterized by the presence of oxyphil cells. ,校对中... +HP:0006782,Malignant eosinophil proliferation ,嗜酸性粒细胞恶性增殖, , +HP:0006783,Posterior pharyngeal cleft ,咽后壁裂, , +HP:0006784,Paranasal sinus hypoplasia ,鼻窦发育不全,Underdevelopment of the paranasal sinuses. ,校对中... +HP:0006785,Limb-girdle muscular dystrophy ,肢带型肌营养不良症,Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders). ,校对中... +HP:0006789,Mitochondrial encephalopathy ,线粒体脑病, , +HP:0006794,Loss of ability to walk in first decade ,10岁内行走能力丧失, , +HP:0006799,Basal ganglia cysts ,基底节囊肿, , +HP:0006801,Hyperactive deep tendon reflexes ,腱反射亢进, , +HP:0006802,Abnormal anterior horn cell morphology ,脊髓前角细胞形态异常,Any anomaly of the anterior horn cell. ,校对中... +HP:0006808,Cerebral hypomyelination ,脑髓鞘形成减少,Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system. ,校对中... +HP:0006812,White mater abnormalities in the posterior periventricular region ,后部脑室周围区域白质异常, , +HP:0006813,Focal hemiclonic seizure ,局灶性偏侧阵挛发作,A type of focal clonic seizure characterized by sustained rhythmic jerking rapidly involves one side of the body at seizure onset. ,校对中... +HP:0006817,Aplasia/Hypoplasia of the cerebellar vermis ,小脑蚓部发育缺陷/发育不全,Absence or underdevelopment of the vermis of cerebellum. ,校对中... +HP:0006818,4-layered lissencephaly ,4层无脑回畸形,"A form of lissencephaly in which the cortex is thickened and has four more or less disorganized layers rather than six normal layers resulting from incomplete neuronal migration during brain development. At neuropathological examination, a 4-layered cortex consists of an upper molecular layer, a second thin cellular layer containing pyramidal neurons usually observed in layer V, a third pale poorly cellular layer and a fourth thick deep layer made up of neurons which had failed to migrate. Radiologocally would manifest as agyria or pachygyria with cortical thickness greater than 10 mm. ",校对中... +HP:0006821,Frontal polymicrogyria ,额叶多小回,A type of polymicrogyria with a gradient of severity (anterior more severe than posterior) extending from frontal poles posteriorly to precentral gyrus and inferiorly to frontal operculum. ,校对中... +HP:0006824,Cranial nerve paralysis ,颅神经麻痹, , +HP:0006825,Pallor of dorsal columns of the spinal cord ,脊髓背侧柱苍白, , +HP:0006827,Atrophy of the spinal cord ,脊髓萎缩, , +HP:0006829,Severe muscular hypotonia ,严重的肌张力减退,A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. ,校对中... +HP:0006834,Developmental stagnation at onset of seizures ,癫痫发病后的发育停滞,"A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills, following the onset of epilepsy. ",校对中... +HP:0006837,Congenital Horner syndrome ,先天性霍纳综合征,A type of Horner syndrome with congenital onset. ,校对中... +HP:0006844,Absent patellar reflexes ,膝反射消失,"Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella. ",校对中... +HP:0006846,Acute encephalopathy ,急性脑病, , +HP:0006849,Hypodysplasia of the corpus callosum ,胼胝体发育不良, , +HP:0006850,Hypoplasia of the ventral pons ,腹侧桥脑发育不良,Underdevelopment of the ventral portion of the pons. ,校对中... +HP:0006851,Symmetric spinal nerve root neurofibromas ,对称的脊神经根神经纤维瘤,Multiple neurofibromas of the spinal nerve roots with a symmetric distribution. ,校对中... +HP:0006852,Episodic generalized hypotonia ,发作性全身肌张力减退,The occurrence of repeated episodes of generalized muscular hypotonia. ,校对中... +HP:0006855,Cerebellar vermis atrophy ,小脑蚓部萎缩,Wasting (atrophy) of the vermis of cerebellum. ,校对中... +HP:0006858,Impaired distal proprioception ,远端本体感觉障碍,A loss or impairment of the sensation of the relative position of parts of the body and joint position occuring at distal joints. ,校对中... +HP:0006863,Severe expressive language delay ,严重的表达性语言发育延迟,"A severe delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts. ",校对中... +HP:0006866,Midline central nervous system lipomas ,中线中枢神经系统脂肪瘤, , +HP:0006870,Lobar holoprosencephaly ,脑叶性前脑无裂畸形,"A type of holoprosencephaly in which most of the right and left cerebral hemispheres and lateral ventricles are separated but the most rostral aspect of the telencephalon, the frontal lobes, are fused, especially ventrally. ",校对中... +HP:0006872,Cerebral hypoplasia ,脑发育不全,Underdevelopment of the cerebrum. ,校对中... +HP:0006873,Symmetrical progressive peripheral demyelination ,对称的进行性周围神经脱髓鞘,A symmetric and progressive loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. ,校对中... +HP:0006879,Pontocerebellar atrophy ,脑桥小脑萎缩,Atrophy affecting the pons and the cerebellum. ,校对中... +HP:0006880,Cerebellar hemangioblastoma ,小脑血管母细胞瘤,A hemangioblastoma of the cerebellum. ,校对中... +HP:0006882,Severe hydrocephalus ,严重的脑积水, , +HP:0006886,Impaired distal vibration sensation ,远端振动觉障碍,A decrease in the ability to perceive vibration in the distal portions of the limbs. ,校对中... +HP:0006887,"Intellectual disability, progressive ",进行性智力残疾,The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time. ,校对中... +HP:0006888,Meningoencephalocele ,脑膜脑膨出, , +HP:0006889,"Intellectual disability, borderline ",边缘状态智力残疾,Borderline intellectual disability is defined as an intelligence quotient (IQ) in the range of 70-85. ,校对中... +HP:0006891,Thick cerebral cortex ,大脑皮层增厚, , +HP:0006892,Frontotemporal cerebral atrophy ,额颞叶萎缩,"Atrophy (wasting, decrease in size of cells or tissue) affecting the frontotemporal cerebrum. ",校对中... +HP:0006894,Hypoplastic olfactory lobes ,嗅叶发育不良, , +HP:0006895,Lower limb hypertonia ,下肢肌张力增高, , +HP:0006896,Hypnopompic hallucinations ,醒前幻觉,Fleeting perceptual experiences that occur during the transition from sleep to wakefulness. ,校对中... +HP:0006897,Abducens palsy ,外展神经麻痹,"Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. ",校对中... +HP:0006899,Fusion of the cerebellar hemispheres ,小脑半球融合, , +HP:0006904,Late-onset spinocerebellar degeneration ,迟发性脊髓小脑变性, , +HP:0006913,Frontal cortical atrophy ,额叶皮质萎缩,Atrophy of the frontal cortex. ,校对中... +HP:0006915,Inability to walk by childhood/adolescence ,青少年行走不能, , +HP:0006916,Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material ,曲线性自体荧光脂色素存储物质的轴突内堆积增加,Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons. ,校对中... +HP:0006918,Diffuse cerebral sclerosis ,弥漫性脑硬化, , +HP:0006919,"Abnormal aggressive, impulsive or violent behavior ",异常的攻击、冲动或暴力行为, , +HP:0006921,Axial muscle stiffness ,轴向肌肉僵硬,Stiffness (a condition in which muscles cannot be moved quickly without accompanying pain or spasm) of the axial musculature. ,校对中... +HP:0006927,Unilateral polymicrogyria ,单侧多小脑回,Excessive number of small gyri (convolutions) on the surface of one side of the brain. ,校对中... +HP:0006929,Hypoglycemic encephalopathy ,低血糖脑病,"Brain damage related to a lowering of blood glucose below a critical level (around 30 mg/dl), which may lead to confusion, lethargy and delirium followed by seizures and coma. Prolonged hypoglycemia may lead to irreversible brain damage. ",校对中... +HP:0006930,Frontoparietal cortical dysplasia ,额顶叶皮质发育不良,The presence of developmental dysplasia of the cortex of frontal lobe and the cortex of parietal lobe. ,校对中... +HP:0006931,Lipoma of corpus callosum ,胼胝体脂肪瘤, , +HP:0006934,Congenital nystagmus ,先天性眼球震颤,Nystagmus dating from or present at birth. ,校对中... +HP:0006937,Impaired distal tactile sensation ,远端触觉感觉障碍,"A reduced sense of touch (tactile sensation) on the skin of the distal limbs. This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. ",校对中... +HP:0006938,Impaired vibration sensation at ankles ,脚踝振动觉障碍,"A decrease in the ability to perceive vibration at the ankles. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to the malleoli of the ankles. ",校对中... +HP:0006943,Diffuse spongiform leukoencephalopathy ,弥漫性海绵状白质脑病, , +HP:0006944,Abolished vibration sense ,振动觉消失,A complete loss of the ability to perceive vibration. ,校对中... +HP:0006946,Recurrent meningitis ,复发性脑膜炎,An increased susceptibility to meningitis as manifested by a medical history of recurrent episodes of meningitis. ,校对中... +HP:0006949,Episodic peripheral neuropathy ,发作性周围神经病变, , +HP:0006951,Retrocerebellar cyst ,Retrocerebellar囊肿, , +HP:0006955,Olivopontocerebellar hypoplasia ,橄榄桥脑小脑发育不全,"Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. ",校对中... +HP:0006956,Dilation of lateral ventricles ,侧脑室扩张, , +HP:0006957,Loss of ability to walk ,行走能力的丧失, , +HP:0006958,Abnormal auditory evoked potentials ,听觉诱发电位异常,"An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex. ",校对中... +HP:0006960,Choroid plexus calcification ,脉络丛钙化,The presence of calcium deposition in the choroid plexus. ,校对中... +HP:0006961,Jerky head movements ,抽动样头部运动, , +HP:0006962,"Gait instability, worse in the dark ",步态不稳，黑暗时更差, , +HP:0006964,Cerebral cortical neurodegeneration ,大脑皮层神经变性, , +HP:0006965,Acute necrotizing encephalopathy ,急性坏死性脑病, , +HP:0006970,Periventricular leukomalacia ,脑室周围白质软化, , +HP:0006977,Grammar-specific speech disorder ,语法性语言障碍, , +HP:0006978,Dysmyelinating leukodystrophy ,髓鞘障碍性脑白质营养不良, , +HP:0006979,Sleep-wake cycle disturbance ,睡眠-觉醒周期紊乱,Any abnormal alteration of an individual's circadian rhythm that affects the timing of sleeping and being awake. ,校对中... +HP:0006980,Progressive leukoencephalopathy ,进行性脑白质病,Leukoencephalopathy that gets more severe with time. ,校对中... +HP:0006986,Upper limb spasticity ,上肢痉挛, , +HP:0006988,Alobar holoprosencephaly ,无脑叶畸形,A type of holoprosencephaly characterized by the presence of a single ventricle and no separation of the cerebral hemisphere. The single midline ventricle is often greatly enlarged. ,校对中... +HP:0006989,Dysplastic corpus callosum ,胼胝体发育异常,"Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. ",校对中... +HP:0006992,Anterior basal encephalocele ,前基底脑膨出, , +HP:0006994,Diffuse leukoencephalopathy ,弥漫性脑白质病, , +HP:0006999,Basal ganglia gliosis ,基底节胶质细胞增生,Focal proliferation of glial cells in the basal ganglia. ,校对中... +HP:0007000,Morning myoclonic jerks ,早晨肌阵挛样抽动, , +HP:0007001,Loss of Purkinje cells in the cerebellar vermis ,小脑蚓部浦肯野细胞缺失, , +HP:0007002,Motor axonal neuropathy ,运动轴索性神经病,"Progressive impairment of function of motor axons with muscle weakness, atrophy, and cramps. The deficits are length-dependent, meaning that muscles innervated by the longest nerves are affected first, so that for instance the arms are affected at a later age than the onset of deficits involving the lower leg. ",校对中... +HP:0007006,Dorsal column degeneration ,后索变性, , +HP:0007007,Cavitation of the basal ganglia ,基底节间隙,The formation of small cavities in the tissue of the basal ganglia. ,校对中... +HP:0007009,Central nervous system degeneration ,中枢神经系统变性, , +HP:0007010,Poor fine motor coordination ,精细动作协调差,"An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes. ",校对中... +HP:0007011,Fourth cranial nerve palsy ,第四组颅神经麻痹,Paralysis of the fourth cranial (trochlear) nerve manifested as weakness of the superior oblique muscle which causes vertical diplopia that is maximal when the affected eye is adducted and directed inferiorly. ,校对中... +HP:0007015,Poor gross motor coordination ,粗大运动协调差,"An abnormality of the ability (skills) to perform a precise movement of large muscles with the intent to perform a specific act. Gross motor skills are required to mediate movements of the arms, legs, and other large body parts. ",校对中... +HP:0007016,Corticospinal tract hypoplasia ,皮质脊髓束发育不全, , +HP:0007017,Progressive forgetfulness ,进行性健忘, , +HP:0007018,Attention deficit hyperactivity disorder ,注意力缺陷多动障碍,"Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient. ",校对中... +HP:0007020,Progressive spastic paraplegia ,进行性痉挛性截瘫, , +HP:0007021,Pain insensitivity ,疼痛不敏感,Inability to perceive painful stimuli. ,校对中... +HP:0007023,Antenatal intracerebral hemorrhage ,产前脑出血,Cerebral hemorrhage that occurs before birth. ,校对中... +HP:0007024,Pseudobulbar paralysis ,假性球麻痹,"Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing. ",校对中... +HP:0007029,Cerebral berry aneurysm ,颅内浆果样动脉瘤,"A small, sac-like aneurysm (outpouching) of a cerebral blood vessel. ",校对中... +HP:0007030,Nonprogressive encephalopathy ,非进行性脑病, , +HP:0007033,Cerebellar dysplasia ,小脑发育不良,"Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts. ",校对中... +HP:0007034,Generalized hyperreflexia ,广泛性反射亢进, , +HP:0007035,Anterior encephalocele ,前脑膨出, , +HP:0007036,Hypoplasia of olfactory tract ,嗅束发育不良, , +HP:0007039,Symmetric lesions of the basal ganglia ,基底节对称性病变, , +HP:0007041,Chronic lymphocytic meningitis ,慢性淋巴细胞性脑膜炎,"Meningitis that persists for more than 4 weeks, and lymphocytes are present in the cerebrospinal fluid (CSF). ",校对中... +HP:0007042,Focal white matter lesions ,局灶性脑白质病变, , +HP:0007047,Atrophy of the dentate nucleus ,齿状核萎缩,Partial or complete wasting (loss) of dentate nucleus. ,校对中... +HP:0007048,Large basal ganglia ,基底节增大,Increased size of the basal ganglia. ,校对中... +HP:0007052,Multifocal cerebral white matter abnormalities ,多灶性脑白质异常, , +HP:0007054,Hyperreflexia proximally ,近端反射亢进, , +HP:0007057,Poor hand-eye coordination ,手眼协调性差, , +HP:0007058,Generalized cerebral atrophy/hypoplasia ,广泛性脑萎缩/发育不全,Generalized atrophy or hypoplasia of the cerebrum. ,校对中... +HP:0007063,Aplasia of the inferior half of the cerebellar vermis ,小脑蚓部的下部发育缺陷, , +HP:0007064,Progressive language deterioration ,渐进式的语言恶化,Progressive loss of previously present language abilities. ,校对中... +HP:0007065,Disorganization of the anterior cerebellar vermis ,小脑前蚓部结构紊乱, , +HP:0007067,Distal peripheral sensory neuropathy ,远端感觉性周围神经病变,Peripheral sensory neuropathy affecting primarily distal sensation. ,校对中... +HP:0007068,Inferior vermis hypoplasia ,下蚓部发育不全,Underdevelopment of the inferior portion of the vermis of cerebellum. ,校对中... +HP:0007069,Profound static encephalopathy ,严重的静息性脑病, , +HP:0007074,Thick corpus callosum ,胼胝体增厚,Increased vertical dimension of the corpus callosum. This feature can be visualized by sagittal sections on magnetic resonance tomography imaging of the brain. ,校对中... +HP:0007076,Extrapyramidal muscular rigidity ,锥体外系肌强直,Muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). ,校对中... +HP:0007078,Decreased amplitude of sensory action potentials ,感觉动作电位波幅降低,A reduction in the amplitude of sensory nerve action potential. This feature is measured by nerve conduction studies. ,校对中... +HP:0007082,Dilated third ventricle ,第三脑室扩张,An increase in size of the third ventricle. ,校对中... +HP:0007083,Hyperactive patellar reflex ,膝腱反射亢进, , +HP:0007086,Social and occupational deterioration ,社交和职业退化, , +HP:0007089,Facial-lingual fasciculations ,面-舌肌束颤,Fasciculations affecting the tongue muscle and the musculature of the face. ,校对中... +HP:0007096,Hypoplasia of the optic tract ,视束发育不良, , +HP:0007097,Cranial nerve motor loss ,颅神经运动功能丧失, , +HP:0007098,Paroxysmal choreoathetosis ,发作性舞蹈手足徐动,Episodes of choreoathetosis that can occur following triggers such as quick voluntary movements. ,校对中... +HP:0007099,未找到信息,-,-,- +HP:0007100,Progressive ventriculomegaly ,渐进性脑室扩大, , +HP:0007103,Hypointensity of cerebral white matter on MRI ,MRI脑白质低信号,A darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter. ,校对中... +HP:0007104,Prolonged somatosensory evoked potentials ,体感诱发电位潜伏期延长, , +HP:0007105,Infantile encephalopathy ,婴儿脑病,Encephalopathy with onset in the infantile period. ,校对中... +HP:0007107,Segmental peripheral demyelination ,节段性周围性脱髓鞘,A loss of myelin from the internode regions along myelinated nerve fibers from segments of the peripheral nervous system. ,校对中... +HP:0007108,Demyelinating peripheral neuropathy ,脱髓鞘性周围神经病,Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies. ,校对中... +HP:0007109,Periventricular cysts ,脑室周围囊肿, , +HP:0007110,Central hypoventilation ,中枢性低通气, , +HP:0007112,Temporal cortical atrophy ,颞叶皮质萎缩,Atrophy of the temporal cortex. ,校对中... +HP:0007117,Corticospinal tract atrophy ,皮质脊髓束萎缩, , +HP:0007123,Subcortical dementia ,皮质下痴呆,"A particular type of dementia characterized by a pattern of mental defects consisting prominently of forgetfulness, slowness of thought processes, and personality or mood change. ",校对中... +HP:0007126,Proximal amyotrophy ,近端肌萎缩,Amyotrophy (muscular atrophy) affecting the proximal musculature. ,校对中... +HP:0007129,Cerebellar medulloblastoma ,小脑髓母细胞瘤, , +HP:0007131,Acute demyelinating polyneuropathy ,急性脱髓鞘性多发性神经病,Acute progressive areflexic weakness and mild sensory changes resulting from myelin breakdown and axonal degeneration. ,校对中... +HP:0007132,Pallidal degeneration ,苍白球变性,"Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. ",校对中... +HP:0007133,Progressive peripheral neuropathy ,进行性周围神经病, , +HP:0007141,Sensorimotor neuropathy ,感觉运动神经病, , +HP:0007146,Bilateral basal ganglia lesions ,双侧基底节病变, , +HP:0007149,Distal upper limb amyotrophy ,上肢远端肌萎缩,Muscular atrophy of distal arm muscles. ,校对中... +HP:0007153,Progressive extrapyramidal movement disorder ,进行性锥体外系功能障碍, , +HP:0007158,Progressive extrapyramidal muscular rigidity ,进行性锥体外系肌肉僵直,A progressive degree of muscular rigidity (continuous contraction of muscles with constant resistance to passive movement). ,校对中... +HP:0007159,Fluctuations in consciousness ,意识波动, , +HP:0007162,Diffuse demyelination of the cerebral white matter ,脑白质弥漫性脱髓鞘,A diffuse loss of myelin from nerve fibers in the central nervous system. ,校对中... +HP:0007164,Slowed slurred speech ,慢而含混不清的语言, , +HP:0007165,Periventricular heterotopia ,脑室周围灰质异位,"A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass. ",校对中... +HP:0007166,Paroxysmal dyskinesia ,发作性运动障碍,"Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the attacks. ",校对中... +HP:0007178,Motor polyneuropathy ,多发性运动神经病, , +HP:0007179,Absent smooth pursuit ,平滑追视缺失,"A complete lack of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. ",校对中... +HP:0007182,Peripheral hypomyelination ,外周神经髓鞘发育障碍,Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the peripheral nervous system. ,校对中... +HP:0007183,Focal T2 hyperintense basal ganglia lesion ,基底节局灶性T2高信号病变,A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hyperintensity affecting a particular region of the basal ganglia. ,校对中... +HP:0007185,Loss of consciousness ,意识丧失, , +HP:0007187,Focal lissencephaly ,局灶性无脑回畸形,A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure that affects a particular part of the cortex. ,校对中... +HP:0007188,Congenital facial diplegia ,先天性双侧面瘫,"Facial diplegia (that is, bilateral facial palsy) with congenital onset. ",校对中... +HP:0007190,Neuronal loss in the cerebral cortex ,大脑皮质中神经元损失, , +HP:0007193,Bilateral tonic-clonic seizure on awakening ,觉醒期双侧强直- 阵挛发作,"Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typically within 90 minutes of waking, regardless of the time of day). ",校对中... +HP:0007199,Progressive spastic paraparesis ,进行性痉挛性轻瘫, , +HP:0007201,Cerebral artery atherosclerosis ,脑动脉粥样硬化,Atherosclerosis (HP:0002621) of a cerebral artery. ,校对中... +HP:0007204,Diffuse white matter abnormalities ,弥漫性脑白质异常, , +HP:0007206,Hemimegalencephaly ,偏侧巨脑/偏侧巨脑畸形,Enlargement of all or parts of one cerebral hemisphere. ,校对中... +HP:0007207,Photosensitive tonic-clonic seizure ,光敏性强直阵挛发作,Generalized-onset tonic-clonic seizures that are provoked by flashing or flickering light. ,校对中... +HP:0007208,Irregular myelin loops ,髓鞘不规则环,Presence of irregular redundant loops of focally folded myelin in a peripheral nerve. ,校对中... +HP:0007209,Facial paralysis ,面瘫,"Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). ",校对中... +HP:0007210,Lower limb amyotrophy ,下肢肌萎缩,Muscular atrophy affecting the lower limb. ,校对中... +HP:0007215,Periodic hyperkalemic paralysis ,高钾性周期性麻痹,Episodes of muscle weakness associated with elevated levels of potassium in the blood. ,校对中... +HP:0007220,Demyelinating motor neuropathy ,脱髓鞘性运动神经病,Demyelination of peripheral motor nerves. ,校对中... +HP:0007221,Progressive truncal ataxia ,进行性躯干共济失调, , +HP:0007227,Macrogyria ,巨脑回,"Increased size of cerebral gyri, often associated with a moderate reduction in the number of sulci of the cerebrum. ",校对中... +HP:0007229,Intracerebral periventricular calcifications ,颅内脑室周围钙化,The presence of calcium deposition in the cerebral white matter surrounding the cerebral ventricles. ,校对中... +HP:0007230,Decreased distal sensory nerve action potential ,远端感觉神经动作电位降低,A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies. ,校对中... +HP:0007232,Spinocerebellar tract disease in lower limbs ,下肢脊髓小脑性疾病, , +HP:0007233,Clusters of axonal regeneration ,轴突再生集群,Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration. ,校对中... +HP:0007236,Recurrent subcortical infarcts ,复发性皮质下梗死, , +HP:0007240,Progressive gait ataxia ,进行性共济失调,A type of gait ataxia displaying progression of clinical severity. ,校对中... +HP:0007249,Decreased number of small peripheral myelinated nerve fibers ,小的周围有髓鞘神经纤维数量减少, , +HP:0007256,Abnormal pyramidal sign ,锥体束征,Functional neurological abnormalities related to dysfunction of the pyramidal tract. ,校对中... +HP:0007258,未找到信息,-,-,- +HP:0007260,Type II lissencephaly ,Ⅱ型无脑回畸形,A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers. ,校对中... +HP:0007262,Symmetric peripheral demyelination ,对称性周围神经脱髓鞘,A symmetric loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. ,校对中... +HP:0007263,Spinocerebellar atrophy ,脊髓小脑萎缩,Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. ,校对中... +HP:0007266,Cerebral dysmyelination ,脑髓鞘形成障碍,Defective structure and function of myelin sheaths of the white matter of the brain. ,校对中... +HP:0007267,Chronic axonal neuropathy ,慢性轴索神经病,An abnormality characterized by chronic impairment of the normal functioning of the axons. ,校对中... +HP:0007269,Spinal muscular atrophy ,脊肌萎缩,Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem. ,校对中... +HP:0007270,Atypical absence seizure ,非典型失神发作,"An atypical absence seizure is a type of generalised non-motor (absence) seizure characterised by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity. ",校对中... +HP:0007271,Occipital myelomeningocele ,枕脊髓脊膜膨出, , +HP:0007272,Progressive psychomotor deterioration ,进行性精神运动恶化, , +HP:0007274,Recurrent bacterial meningitis ,复发性细菌性脑膜炎,An increased susceptibility to bacterial meningitis as manifested by a medical history of recurrent episodes of bacterial meningitis. ,校对中... +HP:0007277,Paucity of anterior horn motor neurons ,前角运动神经元缺乏, , +HP:0007281,Developmental stagnation ,发育停滞,"A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills. ",校对中... +HP:0007285,Facial palsy secondary to cranial hyperostosis ,继发于颅骨增生的面神经麻痹,Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve. ,校对中... +HP:0007289,Limb fasciculations ,肢体肌束颤动,Fasciculations affecting the musculature of the arms and legs. ,校对中... +HP:0007291,Posterior fossa cyst ,后颅窝囊肿,A discrete posterior fossa cerebrospinal fluid (CSF) collection that does not communicate directly with the fourth ventricle. ,校对中... +HP:0007293,Anterior sacral meningocele ,骶前脊膜膨出, , +HP:0007299,Dysfunction of lateral corticospinal tracts ,皮质脊髓侧束功能障碍, , +HP:0007301,Oromotor apraxia ,口部失用, , +HP:0007302,Bipolar affective disorder ,双相情感障碍, , +HP:0007305,CNS demyelination ,中枢神经系统脱髓鞘,A loss of myelin from nerve fibers in the central nervous system. ,校对中... +HP:0007307,Rapid neurologic deterioration ,快速神经功能恶化, , +HP:0007308,未找到信息,-,-,- +HP:0007311,Short stepped shuffling gait ,小碎步步态, , +HP:0007313,Cerebral degeneration ,脑变性, , +HP:0007321,Deep white matter hypodensities ,深部脑白质低信号,Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the deep cerebral white matter. ,校对中... +HP:0007325,Generalized dystonia ,全面性肌张力障碍,A type of dystonia that affects all or most of the body. ,校对中... +HP:0007326,Progressive choreoathetosis ,进行性舞蹈手足徐动, , +HP:0007327,Mixed demyelinating and axonal polyneuropathy ,脱髓鞘和轴突混合型多发性周围神经病, , +HP:0007328,Impaired pain sensation ,痛觉障碍,Reduced ability to perceive painful stimuli. ,校对中... +HP:0007330,Frontal encephalocele ,额叶脑膨出, , +HP:0007332,Focal hemifacial clonic seizure ,局灶性单侧面部阵挛发作,Focal seizure characterized at onset by clonic movements affecting half of the face. ,校对中... +HP:0007333,Hypoplasia of the frontal lobes ,额叶发育不良,Underdevelopment of the frontal lobe of the cerebrum. ,校对中... +HP:0007334,Bilateral tonic-clonic seizure with focal onset ,双侧强直阵挛发作,A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase. ,校对中... +HP:0007335,Recurrent encephalopathy ,复发性脑病,Recurrent episodes of brain dysfunction that may be triggered by factors such as metabolic disturbances or infections. ,校对中... +HP:0007338,Hypermetric saccades ,过快扫视,A saccade that overshoots the target with the dynamic saccade. ,校对中... +HP:0007340,Lower limb muscle weakness ,下肢肌肉无力,Weakness of the muscles of the legs. ,校对中... +HP:0007341,Diffuse swelling of cerebral white matter ,脑白质弥漫性肿胀, , +HP:0007343,Abnormal morphology of the limbic system ,边缘叶形态异常,"Any structural anomaly of the limbic system, a set of midline structures surrounding the brainstem of the mammalian brain, originally described anatomically, e.g., hippocampal formation, amygdala, hypothalamus, cingulate cortex. Although the original designation was anatomical, the limbic system has come to be associated with the system in the brain subserving emotional functions. As such, it is very poorly defined and doesn't correspond closely to the anatomical meaning any longer. [BirnLex]. ",校对中... +HP:0007344,Atrophy/Degeneration involving the spinal cord ,脊髓萎缩/退化, , +HP:0007346,Subcortical white matter calcifications ,皮��下白质钙化, , +HP:0007348,Hypoplasia of the pyramidal tract ,锥体束发育不全, , +HP:0007350,Hyperreflexia in upper limbs ,上肢反射亢进, , +HP:0007351,Upper limb postural tremor ,上肢姿势性震颤,A type of tremors that is triggered by holding an arm in a fixed position. ,校对中... +HP:0007352,Cerebellar calcifications ,小脑钙化, , +HP:0007354,Amyotrophic lateral sclerosis ,肌萎缩侧索硬化, , +HP:0007359,Focal-onset seizure ,局灶性发作,"A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures. ",校对中... +HP:0007360,Aplasia/Hypoplasia of the cerebellum ,小脑发育缺陷/发育不全, , +HP:0007361,Abnormal pons morphology ,桥脑形态异常,A structural abnormality of the pons. ,校对中... +HP:0007363,Aplasia/Hypoplasia of the pyramidal tract ,锥体束不发育/发育不全, , +HP:0007366,Atrophy/Degeneration affecting the brainstem ,影响脑干的萎缩/退化, , +HP:0007367,Atrophy/Degeneration affecting the central nervous system ,影响中枢神经系统的萎缩/退化, , +HP:0007369,Atrophy/Degeneration affecting the cerebrum ,影响大脑的萎缩/退化,"The presence of atrophy (wasting) of the cerebrum, also known as the telencephalon, the largest and most highly developed part of the human brain. ",校对中... +HP:0007370,Aplasia/Hypoplasia of the corpus callosum ,胼胝体发育缺陷/发育不全,Absence or underdevelopment of the corpus callosum. ,校对中... +HP:0007371,Corpus callosum atrophy ,胼胝体萎缩,The presence of atrophy (wasting) of the corpus callosum. ,校对中... +HP:0007372,Atrophy/Degeneration involving the corticospinal tracts ,累及皮质脊髓束的萎缩/退化, , +HP:0007373,Motor neuron atrophy ,运动神经元萎缩,Wasting involving the motor neuron. ,校对中... +HP:0007374,Atrophy/Degeneration involving the caudate nucleus ,累及尾状核的萎缩/退化, , +HP:0007375,Abnormality of the septum pellucidum ,透明隔异常,"An abnormality of the septum pellucidum, which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain. ",校对中... +HP:0007377,Abnormality of somatosensory evoked potentials ,体感诱发电位异常,"An abnormality of somatosensory evoked potentials (SSEP), i.e., of the electrical signals of sensation going from the body to the brain in response to a defined stimulus. Recording electrodes are placed over the scalp, spine, and peripheral nerves proximal to the stimulation site. Clinical studies generally use electrical stimulation of peripheral nerves to elicit potentials. SSEP testing determines whether peripheral sensory nerves are able to transmit sensory information like pain, temperature, and touch to the brain. Abnormal SSEPs can result from dysfunction at the level of the peripheral nerve, plexus, spinal root, spinal cord, brain stem, thalamocortical projections, or primary somatosensory cortex. ",校对中... +HP:0007378,Neoplasm of the gastrointestinal tract ,胃肠道新生物,A tumor (abnormal growth of tissue) of the gastrointestinal tract. ,校对中... +HP:0007380,Facial telangiectasia ,面部毛细血管扩张,Telangiectases (small dilated blood vessels) located near the surface of the skin of the face. ,校对中... +HP:0007381,Congenital exfoliative erythroderma ,先天性剥脱性红皮病, , +HP:0007383,Congenital localized absence of skin ,先天性局部皮肤缺损, , +HP:0007384,Aberrant melanosome maturation ,黑素小体成熟障碍, , +HP:0007385,Aplasia cutis congenita of scalp ,先天性头皮表皮发育不全,A developmental defect resulting in the congenital absence of skin on the scalp. ,校对中... +HP:0007387,Hypoplastic sweat glands ,汗腺发育不全,Underdevelopment of the sweat glands. ,校对中... +HP:0007390,Hyperkeratosis with erythema ,红斑角化症, , +HP:0007392,Excessive wrinkled skin ,皮肤皱褶过多, , +HP:0007394,Prominent superficial blood vessels ,浅表血管突出, , +HP:0007397,Axillary apocrine gland hypoplasia ,腋下大汗腺发育不全,Developmental hypoplasia of the apocrine sweat glands in the region of the axilla. ,校对中... +HP:0007398,"Asymmetric, linear skin defects ",非对称性线性皮损, , +HP:0007400,Irregular hyperpigmentation ,不规则色素沉着, , +HP:0007401,Macular atrophy ,黄斑萎缩,"Well-demarcated area(s) of partial or complete depigmentation in the macula, reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. ",校对中... +HP:0007402,Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines ,不沿Blaschko线分布的色素减退和色素沉着区域, , +HP:0007403,Hypertrophy of skin of soles ,跖部皮肤肥厚, , +HP:0007404,Nonepidermolytic palmoplantar hyperkeratosis ,非表皮松解性掌跖角化症,Abnormal thickening of the skin on the palms and soles charactersized by hyperkeratosis of the stratum corneum with no evidence of epidermolysis characteristic of epidermolytic hyperkeratosis. ,校对中... +HP:0007407,Excessive skin wrinkling on dorsum of hands and fingers ,手背和指背部皱褶过多, , +HP:0007408,Tegumentary leishmaniasis susceptibility ,皮肤利什曼病易感,Increased susceptibility to infection by the protozan parasite of the genus Leishmania. ,校对中... +HP:0007410,Palmoplantar hyperhidrosis ,掌跖多汗症,An abnormally increased perspiration on palms and soles. ,校对中... +HP:0007411,Hypoplastic-absent sebaceous glands ,发育不全性皮脂腺缺如, , +HP:0007413,Nevus flammeus of the forehead ,前额鲜红斑痣,Naevus flammeus localised in the skin of the forehead. ,校对中... +HP:0007414,Neonatal wrinkled skin of hands and feet ,新生儿手足皱褶, , +HP:0007417,Discoid lupus rash ,盘状红斑狼疮,"Cutaneous lesion that develops as a dry, scaly, red patch that evolves to an indurated and hyperpigmented plaque with adherent scale. Scarring may result in central white patches (loss of pigmentation) and skin atrophy. ",校对中... +HP:0007418,Alopecia totalis ,全秃,Loss of all scalp hair. ,校对中... +HP:0007420,Spontaneous hematomas ,自发性血肿,Spontaneous development of hematomas (hematoma) or bruises without significant trauma. ,校对中... +HP:0007421,Telangiectases of the cheeks ,面颊毛细血管扩张,Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks. ,校对中... +HP:0007427,Reticulated skin pigmentation ,网状色素沉着, , +HP:0007428,Telangiectasia of the oral mucosa ,口腔粘膜毛细血管扩张,"Telangiectasia (that is, the presence of small dilated superficial blood vessels) of the oral mucosa. ",校对中... +HP:0007429,Few cafe-au-lait spots ,散发型牛奶咖啡斑,The presence of two to five cafe-au-lait macules. ,校对中... +HP:0007430,Generalized edema ,广泛水肿,"Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. ",校对中... +HP:0007431,Congenital ichthyosiform erythroderma ,先天性鱼鳞病样红皮病,An ichthyosiform abnormality of the skin with congenital onset. ,校对中... +HP:0007432,Intermittent generalized erythematous papular rash ,间歇性弥漫性红色斑丘疹, , +HP:0007436,Hair-nail ectodermal dysplasia ,毛发-指甲型外胚层发育不良, , +HP:0007437,Multiple cutaneous leiomyomas ,多发性皮肤平滑肌瘤,The presence of multiple leiomyomas of the skin. ,校对中... +HP:0007438,Mottled pigmentation of the trunk and proximal extremities ,躯干和四肢近端斑驳状色素沉着, , +HP:0007440,Generalized hyperpigmentation ,泛发性色素沉着, , +HP:0007441,Hyperpigmented/hypopigmented macules ,色素沉着/色素减退斑（色素异常斑）, , +HP:0007443,Partial albinism ,白点病；斑驳病；斑状白斑病；斑状白癜风；斑状白化病；,"Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. ",校对中... +HP:0007446,Palmoplantar blistering ,掌跖起泡,A type of blistering that affects the skin of the palms of the hands and the soles of the feet. ,校对中... +HP:0007447,Diffuse palmoplantar hyperkeratosis ,弥漫性掌跖角化过度,Diffuse abnormal thickening of the skin on the palms and soles. ,校对中... +HP:0007448,Hyperkeratosis over edematous areas ,水肿伴角化过度, , +HP:0007449,Confetti-like hypopigmented macules ,斑驳样色素减退斑, , +HP:0007452,Midface capillary hemangioma ,面中部毛细血管瘤, , +HP:0007455,Adermatoglyphia ,皮纹病, , +HP:0007456,Progressive reticulate hyperpigmentation ,进行性网状色素沉着, , +HP:0007457,Prominent veins on trunk ,主干静脉隆凸。,Prominent thoracic and abdominal veins. ,校对中... +HP:0007459,Generalized anhidrosis ,泛发性无汗症, , +HP:0007460,Autoamputation of digits ,手指（足趾）自发性离断, , +HP:0007461,Hemangiomatosis ,多发性血管瘤, , +HP:0007464,Sparse facial hair ,面部毛发稀疏,Reduced number or density of facial hair. ,校对中... +HP:0007465,Honeycomb palmoplantar hyperkeratosis ,蜂窝状掌跖角化,Abnormal thickening of the skin on the palms and soles with an honeycomb pattern. ,校对中... +HP:0007466,Midfrontal capillary hemangioma ,额中部毛细血管瘤, , +HP:0007468,Perifollicular hyperkeratosis ,毛周角化症,Increased amount of keratin (visible as white scales) surrounding hair follicles. ,校对中... +HP:0007469,Palmoplantar cutis gyrata ,掌跖表皮旋纹,Cutis gyrata of palms and soles. ,校对中... +HP:0007470,Periarticular subcutaneous nodules ,关节周围皮下结节,Subcutaneous nodules that are located in the vicinity of joints. ,校对中... +HP:0007473,Crusting erythematous dermatitis ,结痂性红斑样皮炎, , +HP:0007475,Congenital bullous ichthyosiform erythroderma ,先天性大疱性鱼鳞病样红皮病,"An ichthyosiform abnormality of the skin that presents at birth or shortly thereafter with generalized erythema, blistering, erosions, and peeling. In the subsequent months, erythema and blistering improves but patients go on to develop hyperkeratotic scaling that is especially prominent along the joint flexures, neck, hands and feet. ",校对中... +HP:0007476,Anhidrotic ectodermal dysplasia ,无汗性外胚层发育不良, , +HP:0007477,Abnormal dermatoglyphics ,皮纹异常,"An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. ",校对中... +HP:0007479,Congenital nonbullous ichthyosiform erythroderma ,鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病,"The term collodion baby applies to newborns who appear to have an extra layer of skin (known as a collodion membrane) that has a collodion-like quality. It is a descriptive term, not a specific diagnosis or disorder (as such, it is a syndrome). Affected babies are born in a collodion membrane, a shiny waxy outer layer to the skin. This is shed 10-14 days after birth, revealing the main symptom of the disease, extensive scaling of the skin caused by hyperkeratosis. With increasing age, the scaling tends to be concentrated around joints in areas such as the groin, the armpits, the inside of the elbow and the neck. The scales often tile the skin and may resemble fish scales. ",校对中... +HP:0007480,Decreased sweating due to autonomic dysfunction ,植物神经功能紊乱性少汗, , +HP:0007481,Hyperpigmented nevi ,色素痣, , +HP:0007482,Generalized papillary lesions ,泛发性乳头瘤样病变, , +HP:0007483,Depigmentation/hyperpigmentation of skin ,皮肤色素脱失/色素沉着, , +HP:0007485,Absence of subcutaneous fat ,皮下脂肪缺如,Lack of subcutaneous adipose tissue. ,校对中... +HP:0007486,Cavernous hemangioma of the face ,面部海绵状血管瘤, , +HP:0007488,Diffuse skin atrophy ,弥漫性皮肤萎缩, , +HP:0007489,Diffuse telangiectasia ,弥漫性毛细血管扩张,Telangiectases (small dilated blood vessels) with a diffuse localization. ,校对中... +HP:0007490,Linear arrays of macular hyperkeratoses in flexural areas ,弯曲部位线状分布的角化过度斑, , +HP:0007494,Discrete 2 to 5-mm hyper- and hypopigmented macules ,散在分布的2至5mm大小的色素沉着/减退斑, , +HP:0007495,Prematurely aged appearance ,早衰面容, , +HP:0007497,Focal friction-related palmoplantar hyperkeratosis ,摩擦所致的局部掌跖角化,Hyperkeratosis affecting the palm of the hand and the sole of the foot in areas exposed to friction. ,校对中... +HP:0007499,Recurrent staphylococcal infections ,反复葡萄球菌感染,"Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections. ",校对中... +HP:0007500,Decreased number of sweat glands ,汗腺数目减少,The presence of fewer than normal sweat glands. ,校对中... +HP:0007501,Streaks of hyperkeratosis along each finger onto the palm ,掌侧沿手指分布的线状角化过度, , +HP:0007502,Follicular hyperkeratosis ,克尔里病，贯穿性角化过度病,"A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. ",校对中... +HP:0007503,Generalized ichthyosis ,泛发性鱼鳞病, , +HP:0007505,Progressive hyperpigmentation ,进行性色素沉着, , +HP:0007509,Patchy hypo- and hyperpigmentation ,斑片状色素减退和色素沉着, , +HP:0007513,Generalized hypopigmentation ,泛发性色素减退, , +HP:0007514,Edema of the dorsum of hands ,手背水肿,An abnormal accumulation of fluid beneath the skin on the back of the hands. ,校对中... +HP:0007515,Hypoplastic pilosebaceous units ,毛囊皮脂腺发育不全, , +HP:0007516,Redundant skin on fingers ,手指赘肉,Loose and sagging skin of the fingers. ,校对中... +HP:0007517,Palmoplantar cutis laxa ,掌跖皮肤松弛,"Loose, wrinkled skin of hands and feet. ",校对中... +HP:0007522,Increased number of skin folds ,皮肤皱褶增多, , +HP:0007524,Atypical neurofibromatosis ,非典型神经纤维瘤病, , +HP:0007525,"Yellow subcutaneous tissue covered by thin, scaly skin ",由薄层鳞状皮肤覆盖的黄色皮下组织, , +HP:0007526,Hypopigmented skin patches on arms ,手臂色素减退斑, , +HP:0007529,Hidrotic ectodermal dysplasia ,有汗型外胚层发育不良, , +HP:0007530,Punctate palmoplantar hyperkeratosis ,点状掌跖角化, , +HP:0007537,Severe photosensitivity ,重度光敏性,A severe degree of photosensitivity of the skin. ,校对中... +HP:0007541,Frontal cutaneous lipoma ,前额皮肤脂肪瘤,Presence of a cutaneous lipoma on the forehead. ,校对中... +HP:0007542,Absent pigmentation of the ventral chest ,前胸部色素缺失,Lack of skin pigmentation (coloring) of the anterior chest. ,校对中... +HP:0007543,Epidermal hyperkeratosis ,表皮角化过度, , +HP:0007544,Piebaldism ,斑驳病、图案状白皮病,"Piebaldism is characterized by stable and persistent, well-circumscribed depigmented patches present at birth affecting the skin of the face, trunk, and extremities in a symmetrical distribution. ",校对中... +HP:0007545,Congenital palmoplantar hyperkeratosis ,先天性掌跖角化过度,Abnormal thickening of the skin on the palms and soles that is present at birth. ,校对中... +HP:0007546,Linear hyperpigmentation ,线状色素沉着, , +HP:0007549,Desquamation of skin soon after birth ,出生后皮肤剥脱, , +HP:0007550,Hypohidrosis or hyperhidrosis ,少汗/多汗症, , +HP:0007552,Abnormal subcutaneous fat tissue distribution ,皮下脂肪组织分布异常, , +HP:0007553,Congenital symmetrical palmoplantar keratosis ,先天性掌跖角化, , +HP:0007556,Plantar hyperkeratosis ,跖部角化过度,Hyperkeratosis affecting the sole of the foot. ,校对中... +HP:0007559,Localized epidermolytic hyperkeratosis ,局部表皮松解性角化过度症, , +HP:0007565,Multiple cafe-au-lait spots ,多发性咖啡斑,The presence of six or more cafe-au-lait spots. ,校对中... +HP:0007569,Generalized seborrheic dermatitis ,泛发性脂溢性皮炎,Seborrheic dermatitis that is not localized to any one particular region. ,校对中... +HP:0007572,Hyperpigmented streaks ,线状色素沉着, , +HP:0007574,Generalized bronze hyperpigmentation ,弥漫性青铜色色素沉着, , +HP:0007583,Telangiectasia macularis eruptiva perstans ,持久斑疹性毛细血管扩张, , +HP:0007585,Skin fragility with non-scarring blistering ,非疤痕发疱性脆性皮肤, , +HP:0007587,Numerous pigmented freckles ,多发性雀斑, , +HP:0007588,Reticular hyperpigmentation ,网状色素沉着,Increased pigmentation of the skin with a netlike (reticular) pattern. ,校对中... +HP:0007589,Aplasia cutis congenita on trunk or limbs ,先天性躯干或四肢表皮发育不全,A developmental defect resulting in the congenital absence of skin on the trunk or the limbs. ,校对中... +HP:0007590,Aplasia cutis congenita over posterior parietal area ,先天性后顶叶表皮发育不全, , +HP:0007592,Aplasia/Hypoplastia of the eccrine sweat glands ,外分泌汗腺发育缺陷/不全,Absence or developmental hypoplasia of the eccrine sweat glands. ,校对中... +HP:0007598,Bilateral single transverse palmar creases ,双侧单掌横折痕,The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands. ,校对中... +HP:0007599,Generalized reticulate brown pigmentation ,泛发性网状棕色色素沉着, , +HP:0007601,Midline facial capillary hemangioma ,面中线毛细血管瘤, , +HP:0007603,Freckles in sun-exposed areas ,曝光部位雀斑, , +HP:0007605,Excessive wrinkling of palmar skin ,手掌部皱褶过多, , +HP:0007607,Hypohidrotic ectodermal dysplasia ,少汗性外胚层发育不良, , +HP:0007609,Hypoproteinemic edema ,低蛋白性水肿,"An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia). ",校对中... +HP:0007610,Blotching pigmentation of the skin ,皮肤色素沉着斑, , +HP:0007617,"Fine, reticulate skin pigmentation ",细网状色素沉着, , +HP:0007618,Subcutaneous calcification ,皮下钙化,"Deposition of calcium salts in subcutaneous tissue (i.e., the the lowermost layer of the integument). ",校对中... +HP:0007620,Cutaneous leiomyoma ,皮肤平滑肌瘤,The presence of leiomyoma of the skin. ,校对中... +HP:0007621,Telangiectasia of extensor surfaces ,伸肌表面毛细血管扩张, , +HP:0007623,Pigmentation anomalies of sun-exposed skin ,曝光部位色素异常, , +HP:0007626,Mandibular osteomyelitis ,下颌骨骨髓炎,Osteomyelitis of the lower jaw. ,校对中... +HP:0007627,Mandibular condyle aplasia ,下颌骨髁发育不全, , +HP:0007628,Mandibular condyle hypoplasia ,下颌骨髁发育不全, , +HP:0007633,Bilateral microphthalmos ,双侧小眼畸形,A developmental anomaly characterized by abnormal smallness of both eyes. ,校对中... +HP:0007634,Nonarteritic anterior ischemic optic neuropathy ,非动脉炎性前部缺血性视神经病变,"An acute condition characterized by sudden visual loss (usually discovered in the morning), optic disc edema at onset, optic disc-related visual field defects. Nonarteritic anterior ischemic optic neuropathy can be associated with flame hemorrhages on the swollen disc or nearby neuroretinal layer, and sometimes with nearby cotton-wool exudates. ",校对中... +HP:0007641,Dyschromatopsia ,色觉障碍,A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments. ,校对中... +HP:0007642,Congenital stationary night blindness ,先天性静止性夜盲症,"A nonprogressive (i.e., stationary) form of difficulties with night blindness with congenital onset. ",校对中... +HP:0007643,Peripheral tractional retinal detachment ,牵拉性周边视网膜脱离,Tractional retinal detachment at the periphery of the retina. ,校对中... +HP:0007646,Absent lower eyelashes ,下睫毛缺失,Lack of eyelashes on the lower lid. ,校对中... +HP:0007648,Punctate cataract ,点状白内障,A type of cataract with punctate opacities of the lens. ,校对中... +HP:0007649,Congenital hypertrophy of retinal pigment epithelium ,先天性视网膜色素上皮肥大,"Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium. ",校对中... +HP:0007650,Progressive ophthalmoplegia ,渐进性眼肌麻痹, , +HP:0007651,Ectropion of lower eyelids ,下眼睑外翻, , +HP:0007655,Eversion of lateral third of lower eyelids ,下眼睑外侧三分之一外翻, , +HP:0007656,Lacrimal gland aplasia ,泪腺发育缺陷,A congenital defect of development characterized by absence of the lacrimal gland. ,校对中... +HP:0007657,Diffuse nuclear cataract ,弥漫性核性白内障,Opacity of the entire lens nucleus. ,校对中... +HP:0007658,Large hyperpigmented retinal spots ,视网膜上大色素沉着斑, , +HP:0007661,Abnormality of chorioretinal pigmentation ,脉络膜视网膜色素沉着异常, , +HP:0007663,Reduced visual acuity ,视力下降, , +HP:0007665,Curly eyelashes ,睫毛卷翘,Abnormally curly or curved eyelashes. ,校对中... +HP:0007667,Peripheral cystoid retinal degeneration ,周边视网膜囊样变性,Degenerative changes of the peripheral retina consisting of close-packed tiny cystic spaces at the outer plexiform/inner nuclear retinal level. The degeneration is very common in adult eyes and starts adjacent to the ora serrata and extends circumferentially and posteriorly. ,校对中... +HP:0007668,Impaired pursuit initiation and maintenance ,追视启动和维持受损, , +HP:0007670,Abnormal vestibulo-ocular reflex ,前庭眼反射异常,An abnormality of the vestibulo-ocular reflex (VOR). The VOR attempts to keep the image stable on the retina. Ideally passive or active head movements in one direction are compensated for by eye movements of equal magnitude. ,校对中... +HP:0007675,Progressive night blindness ,渐进性夜盲症, , +HP:0007676,Hypoplasia of the iris ,虹膜发育不全,Congenital underdevelopment of the iris. ,校对中... +HP:0007677,Vitelliform-like macular lesions ,卵黄样黄斑病变,"Vitelliform maculopathy is a sharply demarcated lesion caused by the accumulation of material, often lipofuscin in the subretinal space underlying the macula. ",校对中... +HP:0007678,Lacrimal duct stenosis ,泪道狭窄,Narrowing of a tear duct (lacrimal duct). ,校对中... +HP:0007680,Depigmented fundus ,眼底脱色素, , +HP:0007685,Peripheral retinal avascularization ,周边视网膜血管缺失, , +HP:0007686,Abnormal pupillary function ,瞳孔功能异常,A functional abnormality of the pupil. ,校对中... +HP:0007687,Unilateral ptosis ,单侧上睑下垂,A unilateral form of ptosis. ,校对中... +HP:0007688,Undetectable light- and dark-adapted electroretinogram ,无法检测的明暗适应视网膜电图,Absence of the combined rod-and-cone response on electroretinogram. ,校对中... +HP:0007690,Map-dot-fingerprint corneal dystrophy ,地图点指纹角膜营养不良, , +HP:0007695,Abnormal pupillary light reflex ,瞳孔对光反射异常,"An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye. ",校对中... +HP:0007697,Hypoplasia of the lower eyelids ,下眼睑发育不全,Underdevelopment of the lower eyelid. ,校对中... +HP:0007700,Ocular anterior segment dysgenesis ,眼球前段发育不全,Abnormal development (dysgenesis) of the anterior segment of the eye globe. These structures are mainly of mesenchymal origin. ,校对中... +HP:0007703,Abnormality of retinal pigmentation ,视网膜色素异常, , +HP:0007704,Paroxysmal involuntary eye movements ,阵发性不自主眼球运动,"Sudden-onset episode of abnormal, involuntary eye movements. ",校对中... +HP:0007705,Corneal degeneration ,角膜变性, , +HP:0007707,Congenital aphakia ,先天性无晶状体,Absence of the crystalline lens of the eye as a result of a developmental defect. ,校对中... +HP:0007710,Peripheral vitreous opacities ,周边玻璃体混浊, , +HP:0007715,Weak extraocular muscles ,眼外肌薄弱, , +HP:0007716,Uveal melanoma ,葡萄膜黑色素瘤,"A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid). ",校对中... +HP:0007717,Chronic irritative conjunctivitis ,慢性刺激性结膜炎,"A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes. ",校对中... +HP:0007720,Flat cornea ,扁平角膜,"Cornea plana is an abnormally flat shape of the cornea such that the normal protrusion of the cornea from the sclera is missing. The reduced corneal curvature can lead to hyperopia, and a hazy corneal limbus and arcus lipoides may develop at an early age. ",校对中... +HP:0007722,Retinal pigment epithelial atrophy ,视网膜色素上皮萎缩,Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging. ,校对中... +HP:0007727,Opacification of the corneal epithelium ,角膜上皮混浊,Lack of transparency of the corneal epithelium. ,校对中... +HP:0007728,Congenital miosis ,先天性瞳孔缩小,Abnormal (non-physiological) constriction of the pupil of congenital onset. ,校对中... +HP:0007730,Iris hypopigmentation ,虹膜色素减退,An abnormal reduction in the amount of pigmentation of the iris. ,校对中... +HP:0007731,Chorioretinal dysplasia ,脉络膜视网膜发育不良,Abnormal development of the choroid and retina. ,校对中... +HP:0007732,Lacrimal gland hypoplasia ,泪腺发育不全,Underdevelopment of the lacrimal gland. ,校对中... +HP:0007733,Laterally curved eyebrow ,横向弧形眉, , +HP:0007734,Enlarged lacrimal glands ,泪腺增大,Abnormally big lacrimal glands. ,校对中... +HP:0007737,Bone spicule pigmentation of the retina ,骨针样视网膜色素沉着,Pigment migration into the retina in a bone-spicule configuration (resembling the nucleated cells within the lacuna of bone). ,校对中... +HP:0007738,Uncontrolled eye movements ,不受控制的眼球运动, , +HP:0007740,Long eyelashes in irregular rows ,不规则排列的长睫, , +HP:0007750,Hypoplasia of the fovea ,黄斑中心凹发育不全,Underdevelopment of the fovea centralis. ,校对中... +HP:0007754,Macular dystrophy ,黄斑营养不良,"Macular dystrophy is a nonspecific term for premature retinal cell aging and cell death, generally confied to the macula in which no clear extrinsic cause is evident. ",校对中... +HP:0007755,Juvenile epithelial corneal dystrophy ,青少年型上皮性角膜营养不良, , +HP:0007759,Opacification of the corneal stroma ,角膜基质的混浊,Reduced transparency of the stroma of cornea. ,校对中... +HP:0007760,Crystalline corneal dystrophy ,结晶状角膜营养不良, , +HP:0007761,Pericentral scotoma ,中央周围暗点,A scotoma (area of diminished vision within the visual field) that surrounds the central fixation point. ,校对中... +HP:0007763,Retinal telangiectasia ,视网膜毛细血管扩张,Dilatation of small blood vessels of the retina. ,校对中... +HP:0007765,Deep anterior chamber ,深前房,"Increased depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is increased. ",校对中... +HP:0007766,Optic disc hypoplasia ,视盘发育不良,"Underdevelopment of the optic disc, that is of the optic nerve head, where ganglion cell axons exit the eye to form the optic nerve. ",校对中... +HP:0007768,Central retinal vessel vascular tortuosity ,视网膜中央血管迂曲,"The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules). ",校对中... +HP:0007770,Hypoplasia of the retina ,视网膜发育不全, , +HP:0007772,Impaired smooth pursuit ,平滑追视障碍,"An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion. ",校对中... +HP:0007773,Vitreoretinopathy ,玻璃体视网膜病,Ocular abnormality characterised by premature degeneration of the vitreous and the retina that may be associated with increased risk of retinal detachment. ,校对中... +HP:0007774,Hypoplasia of the ciliary body ,睫状体发育不全,Underdevelopment of the ciliary body. ,校对中... +HP:0007776,Sparse lower eyelashes ,下睫稀疏, , +HP:0007778,Posterior retinal neovascularization ,视网膜后新生血管形成,A type of retinal neovascularization that affects the posterior pole of the retina. ,校对中... +HP:0007779,Anterior segment of eye aplasia ,眼前段发育不良, , +HP:0007780,Cortical pulverulent cataract ,皮层粉状白内障,"A type of cataract characterized by punctate, dust-like opacities within the cortical region of the lens. ",校对中... +HP:0007787,Posterior subcapsular cataract ,后囊下白内障,A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. ,校对中... +HP:0007791,Patchy atrophy of the retinal pigment epithelium ,视网膜色素上皮斑状萎缩,"Wasting (atrophy) of the retinal pigment epithelium present in small, isolated areas. ",校对中... +HP:0007792,Microsaccadic pursuit ,眼球扫视范围变窄, , +HP:0007793,Granular macular appearance ,斑点状黄斑色素异常,Mottled (spotted or blotched with different shades) pigmentary abnormality of the macula lutea. ,校对中... +HP:0007795,Anterior cortical cataract ,前皮质性白内障,A cataract that affects the anterior part of the cortex of the lens. ,校对中... +HP:0007797,Retinal vascular malformation ,视网膜血管畸形, , +HP:0007799,Conjunctival whitish salt-like deposits ,结膜发白盐状沉积物,The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis. ,校对中... +HP:0007800,Increased axial length of the globe ,眼球轴长度增加,Abnormal largeness of the eye with an axial length > 2.5 standard deviations from population mean. ,校对中... +HP:0007802,Granular corneal dystrophy ,颗粒状角膜营养不良,"The presence of central, fine, whitish granular lesions in the stroma of the cornea. This type of corneal dystrophy is usually asymptomatic and begins in childhood and shows a slow progression. Later in the course, the corneal epithelium and Bowman's layer may be affected. Histologically, the cornea shows a uniform deposition of hyaline material. ",校对中... +HP:0007803,Monochromacy ,单色觉,"Complete color blindness, a complete inability to distinguish colors. Affected persons cannot perceive colors, but only shades of gray. ",校对中... +HP:0007807,Optic nerve compression ,视神经受压, , +HP:0007809,Punctate corneal dystrophy ,点状角膜营养不良, , +HP:0007811,Horizontal pendular nystagmus ,横向摆动眼球震颤,Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity. ,校对中... +HP:0007812,Herpetiform corneal ulceration ,泡疹角膜溃疡,The presence of one or more dendritic corneal epithelial ulcers characterized by a treelike branching linear pattern with feathery edges and terminal bulbs. Herpetiform corneal ulcers can be identified by fluorescein staining. ,校对中... +HP:0007813,Nongranulomatous uveitis ,非肉芽肿性葡萄膜炎,A form of uveitis that is not associated with the formation of granulomas. ,校对中... +HP:0007814,Retinal pigment epithelial mottling ,视网膜色素上皮斑驳,"Mottling (spots or blotches with different shades) of the retinal pigment epithelium, i.e., localized or generalized fundal pigment granularity associated with processes at the level of the retinal pigment epithelium. ",校对中... +HP:0007817,Horizontal supranuclear gaze palsy ,水平核上性凝视麻痹,"A supranuclear gaze palsy is an inability to look in a horizontal direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal. ",校对中... +HP:0007818,Central heterochromia ,中央虹膜异色,The presence of distinct colors in the central (pupillary) zone of the iris than in the mid-peripheral (ciliary) zone. ,校对中... +HP:0007819,Presenile cataracts ,早老性白内障,"Presenile cataract is a kind of cataract that occurs in early adulthood, that is, at an age that is younger than usual. ",校对中... +HP:0007824,Total ophthalmoplegia ,全眼肌麻痹,Paralysis of both the extrinsic and intrinsic ocular muscles. ,校对中... +HP:0007827,Nodular corneal dystrophy ,结节性角膜营养不良, , +HP:0007830,Adult-onset night blindness ,成人发病夜盲症,Inability to see well at night or in poor light with onset in adulthood. ,校对中... +HP:0007831,Nonprogressive restrictive external ophthalmoplegia ,非进行性限制性眼外肌麻痹,Nonprogressive restriction of movement of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. ,校对中... +HP:0007832,Pigmentation of the sclera ,巩膜色素沉着, , +HP:0007833,Anterior chamber synechiae ,前房粘连, , +HP:0007834,Progressive cataract ,渐进性白内障,A kind of cataract that progresses with age. ,校对中... +HP:0007835,S-shaped palpebral fissures ,S形睑裂, , +HP:0007836,Mosaic corneal dystrophy ,嵌合型角膜营养不良, , +HP:0007838,Progressive ptosis ,渐进性上睑下垂,A progressive form of ptosis. ,校对中... +HP:0007841,Amyloid deposition in the vitreous humor ,玻璃体淀粉样蛋白沉积,"Deposition of hyaline extracellular material (amyloid) into the vitreous humor, which can manifest as vitreous opacities and reduced visual acuity. ",校对中... +HP:0007843,Attenuation of retinal blood vessels ,视网膜血管减少, , +HP:0007850,Retinal vascular proliferation ,视网膜血管增生, , +HP:0007854,Glaucomatous visual field defect ,青光眼性视野缺损, , +HP:0007856,Punctate opacification of the cornea ,角膜的点状混浊,Punctate opacification (reduced transparency) of the corneal stroma. ,校对中... +HP:0007858,Chorioretinal lacunae ,脉络膜视网膜漏洞,Punched out lesions in the pigmented layer of the retina. ,校对中... +HP:0007859,Congenital horizontal nystagmus ,先天性水平眼球震颤,Horizontal nystagmus dating from or present at birth. ,校对中... +HP:0007862,Retinal calcification ,视网膜钙化,Deposition of calcium salts in the retina. ,校对中... +HP:0007866,Retinal infarction ,局部视网膜梗死, , +HP:0007872,Choroidal hemangioma ,脉络膜血管瘤,The presence of multiple hemangiomas in the choroid. These are generally reddish or orange or can have increased pigmentation maiking them difficult to distinguish from choroidal melanomas. ,校对中... +HP:0007873,Abnormally prominent line of Schwalbe ,Schwalbe线异常突出, , +HP:0007874,Almond-shaped palpebral fissure ,杏仁状睑裂,"A shape created by an acute downward arching of the upper eyelid and upward arching of the lower eyelid, toward the medial canthus, which gives the outline of the palpebral fissures the configuration of an almond. Thus, the maximum distance between the fissures is offset from, and medial to, the center point. ",校对中... +HP:0007875,Congenital blindness ,先天性失明,Blindness with onset at birth. ,校对中... +HP:0007880,Marginal corneal dystrophy ,边缘性角膜营养不良, , +HP:0007881,Central corneal dystrophy ,中央角膜营养不良, , +HP:0007885,Slowed horizontal saccades ,水平扫视缓慢,An abnormally slow velocity of horizontal saccadic eye movements. ,校对中... +HP:0007889,Iridescent posterior subcapsular cataract ,彩虹色后囊下白内障,A type of posterior subcapsular cataract characterized by an iridescent color. ,校对中... +HP:0007892,Hypoplasia of the lacrimal punctum ,泪点发育不全,Underdevelopment of the lacrimal puncta. ,校对中... +HP:0007894,Hypopigmentation of the fundus ,眼底的色素沉着不足,"Reduced pigmentation of the fundus, typically generalised. Fundoscopy may reveal a low level pigment in both RPE and choroid with clear visibility of choroidal vessels (pale/albinoid) or low pigment level in the RPE with deep pigment in choroid so that visible choroidal vessels are separated by deeply pigmented zones (tesselated/tigroid). ",校对中... +HP:0007898,Exudative retinopathy ,渗出性视网膜病变, , +HP:0007899,Retinal nonattachment ,视网膜无附着,Failure of attachment of the retina during development. ,校对中... +HP:0007900,Hypoplastic lacrimal duct ,泪道发育不全, , +HP:0007902,Vitreous hemorrhage ,玻璃体出血,Bleeding within the vitreous compartment of the eye. ,校对中... +HP:0007903,Paravenous chorioretinal atrophy ,静脉旁脉络膜视网膜萎缩,Chorioretinal atrophy along the retinal veins. ,校对中... +HP:0007905,Abnormal iris vasculature ,虹膜血管异常, , +HP:0007906,Ocular hypertension ,眼压升高,Intraocular pressure that is 2 standard deviations above the population mean. ,校对中... +HP:0007911,Congenital bilateral ptosis ,先天性双侧上睑下垂, , +HP:0007913,Reticular retinal dystrophy ,网状视网膜营养不良,A type of of patterned retinal dystrophy that shows a reticular pattern of pigmentation. ,校对中... +HP:0007915,Polymorphous posterior corneal dystrophy ,多形性后角膜营养不良,"This corneal dystrophy affects the posterior limiting membrane of the cornea and is characterized by polymorphous plaques of calcium deposits in the deep stromal layers of the cornea, and occasionally by vesicular lesions of the endothelium and edema of the deep corneal stroma. ",校对中... +HP:0007917,Tractional retinal detachment ,牵拉性视网膜脱离,"A type of retinal detachment arising due to a combination of contracting retinal membranes, abnormal vitreoretinal adhesions, and vitreous changes. It is usually seen in the context of diseases that induce a fibrovascular response, e.g. diabetes. ",校对中... +HP:0007922,Hypermyelinated retinal nerve fibers ,视网膜神经纤维过度髓化, , +HP:0007924,Slow decrease in visual acuity ,视力缓慢下降, , +HP:0007925,Lacrimal duct aplasia ,泪管发育缺陷,A congenital defect resulting in absence of the lacrimal duct. ,校对中... +HP:0007928,Abnormal flash visual evoked potentials ,闪光视觉诱发电位异常,"Anomaly of the visual evoked potentials elicited by a flash stimulus, generally a flash of light subtending an angle of at least 20 degrees of the visual field and presented in a dimly lit room. ",校对中... +HP:0007933,Broad lateral eyebrow ,宽侧眉,Regional increase in the width (height) of the lateral eyebrow. ,校对中... +HP:0007935,Juvenile posterior subcapsular lenticular opacities ,青少年型后囊下晶体混浊, , +HP:0007936,Restrictive external ophthalmoplegia ,限制性眼外肌麻痹,Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. ,校对中... +HP:0007937,Reticular pigmentary degeneration ,网状视网膜色素变性,"A type of retinal reticular pigmentation that forms a polygonal, netlike arrangement of hyperpigmented lines forming geometric patterns in the fundus. ",校对中... +HP:0007939,Blue cone monochromacy ,蓝锥单色盲,A form of monochromacy in which vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. ,校对中... +HP:0007941,Limited extraocular movements ,眼球运动受限, , +HP:0007942,Internal ophthalmoplegia ,眼内肌麻痹,Paralysis of the iris and ciliary apparatus. ,校对中... +HP:0007943,Congenital stapes ankylosis ,先天性镫骨硬化,A form of stapes ankylosis with congenital onset. ,校对中... +HP:0007944,Intermittent microsaccadic pursuits ,眼球微小扫视运动, , +HP:0007946,Unilateral narrow palpebral fissure ,单侧睑裂狭小,A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures on one side only. ,校对中... +HP:0007948,Dense posterior cortical cataract ,密集的后皮质性白内障,A type of posterior cortical cataract characterized by dense lenticular opacities. ,校对中... +HP:0007950,Peripapillary chorioretinal atrophy ,乳头旁脉络膜视网膜萎缩,"Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). ",校对中... +HP:0007957,Corneal opacity ,角膜混浊,A reduction of corneal clarity. ,校对中... +HP:0007958,Optic atrophy from cranial nerve compression ,脑神经受压性视神经萎缩, , +HP:0007962,Speckled corneal dystrophy ,斑点角膜营养不良, , +HP:0007964,Degenerative vitreoretinopathy ,退行性玻璃体视网膜病, , +HP:0007965,Undetectable visual evoked potentials ,视觉诱发电位无波形, , +HP:0007968,Remnants of the hyaloid vascular system ,玻璃体血管系统残留,"Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract. ",校对中... +HP:0007970,Congenital ptosis ,先天性上睑下垂, , +HP:0007971,Lamellar cataract ,板层白内障,"A congenital cataract in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region), i.e., between the nuclear and cortical layers of the lens. ",校对中... +HP:0007973,Retinal dysplasia ,视网膜发育不良,The presence of developmental dysplasia of the retina. ,校对中... +HP:0007975,Hypometric horizontal saccades ,过慢扫视,"Saccadic undershoot of horizontal saccadic eye movements, i.e., a horizontal saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object. ",校对中... +HP:0007976,Cerulean cataract ,蔚蓝白内障,"Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. ",校对中... +HP:0007979,Gaze-evoked horizontal nystagmus ,凝视诱发水平眼震,Horizontal nystagmus made apparent by looking to the right or to the left. ,校对中... +HP:0007980,Absent retinal pigment epithelium ,视网膜色素上皮缺如, , +HP:0007984,Electronegative electroretinogram ,视网膜电流图负波形,"A dark-adapted bright flash electroretinogram in which the b-wave that is of markedly lower amplitude than the associated a-wave (source: Holder GE., Inherited Chorioretinal Dystrophies: A Textbook and Atlas; 2014; p.17; ISBN 978-3-540-69466-3). ",校对中... +HP:0007985,Retinal arteriolar occlusion ,视网膜小动脉闭塞,"Blockage of retinal arteriole, generally associated with interruption of blood flow and oxygen delivery to affected regions of the retina. ",校对中... +HP:0007987,Progressive visual field defects ,进行性视野缺失, , +HP:0007988,Macular hypopigmentation ,黄斑色素减退,Decreased amount of pigmentation in the macula lutea. ,校对中... +HP:0007989,Intraretinal exudate ,视网膜内的渗出液,Retinal exudate within the retinal tissue itself. ,校对中... +HP:0007990,Hypoplastic iris stroma ,虹膜基质发育不全,Underdevelopment of the stroma of iris. ,校对中... +HP:0007992,Lattice retinal degeneration ,格子样视网膜变性, , +HP:0007993,Malformed lacrimal duct ,泪道畸形,Congenital malformation of the lacrimal duct associated with incomplete development of the bony nasolacrimal canal or craniofacial anomalies. ,校对中... +HP:0007994,Peripheral visual field loss ,周边视野缺失,"Loss of peripheral vision with retention of central vision, resulting in a constricted circular tunnel-like field of vision. ",校对中... +HP:0008000,Decreased corneal reflex ,角膜反射减退,"An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids. ",校对中... +HP:0008001,Foveal hyperpigmentation ,黄斑色素沉着,Increased amount of pigmentation in the fovea centralis. ,校对中... +HP:0008002,Abnormality of macular pigmentation ,黄斑色素沉着异常,Abnormality of macular or foveal pigmentation. ,校对中... +HP:0008003,Jerky ocular pursuit movements ,急速眼追踪运动, , +HP:0008005,Congenital corneal dystrophy ,先天性角膜营养不良, , +HP:0008007,Primary congenital glaucoma ,原发性先天性青光眼, , +HP:0008011,Peripheral opacification of the cornea ,角膜外围混浊,Reduced transparency of the peripheral region of the cornea. ,校对中... +HP:0008020,Cone dystrophy ,视锥细胞营养不良,Inherited progressive cone degeneration. ,校对中... +HP:0008028,Cystoid macular degeneration ,黄斑囊样变性,A form of macular degeneration characterized by the presence of multiple cysts in the macula. ,校对中... +HP:0008031,Posterior Y-sutural cataract ,后Y缝白内障,A type of sutural cataract in which the opacity follows the posterior Y suture. ,校对中... +HP:0008034,Abnormal iris pigmentation ,虹膜异常色素沉着,Abnormal pigmentation of the iris. ,校对中... +HP:0008035,Retinitis pigmentosa inversa ,反常性视网膜色素变性,"Retinitis pigmentosa inversa is form of retinal degeneration characterized by areas of retinal/chorioretinal degeneration with pigment migration in the macular area (in contrast to retinitis pigmentosa which, at early disease stages, predominantly affects the retinal periphery). ",校对中... +HP:0008037,Absent anterior chamber of the eye ,眼前房缺如,Absence of the anterior chamber of the eye owing to a developmental defect. ,校对中... +HP:0008038,Aplastic/hypoplastic lacrimal glands ,泪腺发育缺陷/不全,Absence or underdevelopment of the lacrimal gland. ,校对中... +HP:0008039,Subepithelial corneal opacities ,上皮下角膜混浊, , +HP:0008041,Late onset congenital glaucoma ,迟发性先天性青光眼, , +HP:0008043,Retinal arteriolar constriction ,视网膜小动脉收缩,"Decreased retinal arteriolar diameters, which may decrease blood flow and slow oxygen delivery to regions of the retina. ",校对中... +HP:0008045,Enlarged flash visual evoked potentials ,闪光视觉诱发电位增强, , +HP:0008046,Abnormal retinal vascular morphology ,视网膜脉管形态异常,A structural abnormality of retinal vasculature. ,校对中... +HP:0008049,Abnormality of the extraocular muscles ,眼外肌异常,An abnormality of an extraocular muscle. ,校对中... +HP:0008050,Abnormality of the palpebral fissures ,睑裂异常,An anomaly of the space between the medial and lateral canthi of the two open eyelids. ,校对中... +HP:0008052,Retinal fold ,视网膜皱襞,A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy. ,校对中... +HP:0008053,Aplasia/Hypoplasia of the iris ,虹膜发育缺陷/不全,Absence or underdevelopment of the iris. ,校对中... +HP:0008056,Aplasia/Hypoplasia affecting the eye ,眼睛发育缺陷/不全, , +HP:0008058,Aplasia/Hypoplasia of the optic nerve ,视神经发育缺陷/不全, , +HP:0008059,Aplasia/Hypoplasia of the macula ,黄斑发育缺陷/不全, , +HP:0008063,Aplasia/Hypoplasia of the lens ,晶状体发育缺陷/不全,Absence or underdevelopment of the lens. ,校对中... +HP:0008064,Ichthyosis ,鱼鳞病,An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. ,校对中... +HP:0008065,Aplasia/Hypoplasia of the skin ,皮肤发育缺陷/不全, , +HP:0008066,Abnormal blistering of the skin ,皮肤的异常起疱,"The presence of one or more bullae on the skin, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. ",校对中... +HP:0008069,Neoplasm of the skin ,皮肤肿瘤,A tumor (abnormal growth of tissue) of the skin. ,校对中... +HP:0008070,Sparse hair ,毛发稀疏,Reduced density of hairs. ,校对中... +HP:0008071,Maternal hypertension ,妊娠期高血压疾病,Increased blood pressure during a pregnancy. ,校对中... +HP:0008072,Maternal virilization in pregnancy ,孕期母体男性化,"Virilization (deepening of voice, facial hirsutism and scalp hair loss) with onset during pregnancy (usually towards the end of the first trimester) and regression several months post-partum. ",校对中... +HP:0008073,Low maternal serum estriol ,孕妇血清雌三醇降低,An abnormally high concentration of serum conjugated estriol as compared to normal values for gestational-age. ,校对中... +HP:0008075,Progressive pes cavus ,渐进性高足弓,The development of Pes cavus that is progressive with age. ,校对中... +HP:0008078,Thin metatarsal cortices ,跖骨皮质薄, , +HP:0008080,Hallux varus ,拇趾内翻,Medial deviation of the great toe owing to a deformity of the great toe joint causing the hallux to deviate medially. ,校对中... +HP:0008081,Pes valgus ,足外翻,An outward deviation of the foot at the talocalcaneal or subtalar joint. ,校对中... +HP:0008082,Medial deviation of the foot ,脚内侧偏斜, , +HP:0008083,2nd-5th toe middle phalangeal hypoplasia ,第二-五趾中间趾骨发育不全, , +HP:0008087,Nonossified fifth metatarsal ,第五跖骨未骨化,The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible. ,校对中... +HP:0008089,Abnormality of the fifth metatarsal bone ,第五跖骨异常,An anomaly of the fifth metatarsal bone. ,校对中... +HP:0008090,Ankylosis of feet small joints ,足小关节强直, , +HP:0008093,Short 4th toe ,第四趾短,Underdevelopment (hypoplasia) of the fourth toe. ,校对中... +HP:0008094,Widely spaced toes ,趾间距宽,An overall widening of the spaces between the digits. ,校对中... +HP:0008096,Medially deviated second toe ,第二趾内侧向偏斜,Medial deviation of the second toe. ,校对中... +HP:0008097,Partial fusion of tarsals ,跗骨部分融合, , +HP:0008102,Expanded metatarsals with widened medullary cavities ,髓腔增宽型跖骨膨大, , +HP:0008103,Delayed tarsal ossification ,跗骨骨化延迟,"Delayed maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. ",校对中... +HP:0008107,Plantar crease between first and second toes ,第一、二脚趾之间足底皱褶,The presence of unusually deep creases (ridges/wrinkles) on the skin of sole of foot located between the first and second toe. ,校对中... +HP:0008108,Advanced tarsal ossification ,跗骨骨化过早,"Precocious (accelerated) maturation and calcification of any of the tarsal bones, seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. ",校对中... +HP:0008110,Equinovarus deformity ,马蹄内翻变形, , +HP:0008111,Broad distal hallux ,脚拇趾末端粗大, , +HP:0008113,Multiple plantar creases ,足底多褶, , +HP:0008114,Metatarsal diaphyseal endosteal sclerosis ,跖骨骨干骨内膜硬化,Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones. ,校对中... +HP:0008115,Clinodactyly of the 3rd toe ,第三趾屈趾畸形,"Bending or curvature of a third toe in the tibial direction (i.e., towards the big toe). ",校对中... +HP:0008116,Flexion limitation of toes ,脚趾屈曲限制,Limitation of the ability to bend the toes. ,校对中... +HP:0008117,Shortening of the talar neck ,距骨颈短缩, , +HP:0008119,Deformed tarsal bones ,跗骨变形, , +HP:0008122,Calcaneonavicular fusion ,跟舟骨融合,Synostosis of the calcaneus with the navicular bone. ,校对中... +HP:0008124,Talipes calcaneovarus ,仰趾内翻足,"A congenital deformity characterized by a dorsiflexed, inverted, and adducted foot, i.e., a combination of talipes calcaneus and talipes varus. ",校对中... +HP:0008125,Second metatarsal posteriorly placed ,第2跖骨后置, , +HP:0008127,Bipartite calcaneus ,二分跟骨,"A two-part calcaneus, a finding that probably results from delayed coalescence of two primary calcaneal centers of ossification. ",校对中... +HP:0008131,Tarsal stippling ,跗骨点状钙化,"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more tarsal bones. ",校对中... +HP:0008132,Medial rotation of the medial malleolus ,内踝内旋, , +HP:0008133,Distal tapering of metatarsals ,跖骨远端逐渐变细, , +HP:0008134,Irregular tarsal ossification ,跗骨不规则骨化,"Defective ossification in an irregular pattern of the seven bones of the foot comprising the calcaneus, talus, cuboid, navicular, and the cuneiform bones. ",校对中... +HP:0008138,Equinus calcaneus ,马蹄足畸形,Abnormal plantar flexion of the calcaneus relative to the longitudinal axis of the tibia. This results in the angle between the long axis of the tibia and the long axis of the heel bone (calcaneus) being greater than 90 degrees. ,校对中... +HP:0008141,Dislocation of toes ,脚趾脱臼, , +HP:0008142,Delayed calcaneal ossification ,跟骨骨化延迟,Delayed maturation and calcification of the calcaneus. ,校对中... +HP:0008144,Flattening of the talar dome ,扁平的距骨圆顶, , +HP:0008148,Impaired epinephrine-induced platelet aggregation ,肾上腺素诱导的血小板聚集障碍,Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine. ,校对中... +HP:0008150,Elevated serum transaminases during infections ,感染期血清转氨酶升高,Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections. ,校对中... +HP:0008151,Prolonged prothrombin time ,凝血酶原时间延长,"Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. ",校对中... +HP:0008153,Periodic hypokalemic paresis ,低钾性周期性麻痹,Episodes of muscle weakness associated with reduced levels of potassium in the blood. ,校对中... +HP:0008155,Mucopolysacchariduria ,粘多糖尿症,Excessive amounts of mucopolysaccharide in the urine. ,校对中... +HP:0008158,Hyperapobetalipoproteinemia ,高β-载脂蛋白血症,Hyperapobetalipoproteinemia is defined as the combination of a normal low density lipoprotein (LDL) cholesterol in the face of an increased LDL apolipoprotein B (apoB) protein. ,校对中... +HP:0008160,3-hydroxydicarboxylic aciduria ,3羟基二羧酸尿症,An increase in the level of 3-hydroxydicarboxylic acid in the urine. ,校对中... +HP:0008162,Asymptomatic hyperammonemia ,无症状高氨血症,An increased concentration of ammonia in the blood not associated with symptoms such as encephalopathy. ,校对中... +HP:0008163,Decreased circulating cortisol level ,血皮质醇水平降低,Abnormally reduced concentration of cortisol in the blood. ,校对中... +HP:0008165,Decreased helper T cell proportion ,辅助T细胞比例降低,Reduced proportion of helper T cells relative to the total number of T cells. ,校对中... +HP:0008166,Decreased beta-galactosidase activity ,β-半乳糖苷酶活性降低,"Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma. ",校对中... +HP:0008167,Very long chain fatty acid accumulation ,极长链脂肪酸堆积, , +HP:0008169,Reduced factor VII activity ,凝血因子VII活性减低,"Reduced activity of coagulation factor VII. Factor VII is part of the extrinsic coagulation pathway, which is initiated at the site of injury in response to the release of tissue factor (fIII). Tissue factor and activated factor VII catalyze the activation of factor X. ",校对中... +HP:0008176,Neonatal unconjugated hyperbilirubinemia ,新生儿高非结合胆红素血症, , +HP:0008179,Decreased Arden ratio of electrooculogram ,眼电图Arden比降低,"An abnormal reduction in the Arden ratio, which is the ratio between the light peak and the dark trough of the smoothed (physiologic) EOG record. ",校对中... +HP:0008180,Mildly elevated creatine kinase ,肌酸磷酸激酶轻度升高, , +HP:0008181,Abetalipoproteinemia ,无β脂蛋白血症,An absence of low-density lipoprotein cholesterol in the blood. ,校对中... +HP:0008182,Adrenocortical hypoplasia ,肾上腺皮质发育不全, , +HP:0008185,Precocious puberty in males ,男性性早熟,The onset of puberty before the age of 9 years in boys. ,校对中... +HP:0008186,Adrenocortical cytomegaly ,肾上腺皮质巨细胞症,The presence of large polyhedral cells with eosinophilic granular cytoplasm and enlarged nuclei in the adrenal cortex. ,校对中... +HP:0008187,Absence of secondary sex characteristics ,第二性征缺乏,No secondary sexual characteristics are present at puberty. ,校对中... +HP:0008188,Thyroid dysgenesis ,甲状腺发育异常, , +HP:0008189,Insulin insensitivity ,胰岛素不敏感,Decreased sensitivity toward insulin. ,校对中... +HP:0008191,Thyroid agenesis ,甲状腺缺如,The congenital absence of the thyroid gland. ,校对中... +HP:0008193,Primary gonadal insufficiency ,原发性性腺功能不全, , +HP:0008194,Multiple pancreatic beta-cell adenomas ,多发胰腺β细胞腺瘤,The presence of multiple pancreatic islet cell adenomas. ,校对中... +HP:0008197,Absence of pubertal development ,青春期发育缺失, , +HP:0008198,Congenital hypoparathyroidism ,先天性甲状旁腺功能减退症,Deficiency of parathyroid hormone with congenital onset. ,校对中... +HP:0008200,Primary hyperparathyroidism ,原发性甲状旁腺功能亢进症,"A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia. ",校对中... +HP:0008202,Reduced circulating prolactin concentration ,泌乳素水平下降,A reduced level of prolactin in the blood circulation. Prolactin is a protein hormone that is secreted by lactotrophs in the anterior pituitary and that stimulates mammary gland development and milk production. ,校对中... +HP:0008204,Precocious puberty with Sertoli cell tumor ,性早熟伴睾丸支持细胞瘤, , +HP:0008205,Insulin-dependent but ketosis-resistant diabetes ,胰岛素依赖性非酮症性糖尿病,Ketosis-resistant diabetes is a synonym for type II diabetes. This term thus refers to a form of type II diabetes in which patients are dependent on insulin. ,校对中... +HP:0008207,Primary adrenal insufficiency ,原发性肾上腺功能不全,Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. ,校对中... +HP:0008208,Parathyroid hyperplasia ,甲状旁腺增生,Hyperplasia of the parathyroid gland. ,校对中... +HP:0008209,Premature ovarian insufficiency ,早发性卵巢功能不全,Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. ,校对中... +HP:0008211,Parathyroid agenesis ,甲状旁腺缺如,Aplasia of the parathyroid gland. ,校对中... +HP:0008213,Gonadotropin deficiency ,促性腺激素缺乏症,"A reduced ability to secrete gonadotropins, which are protein hormones secreted by gonadotrope cells of the anterior pituitary gland, including the hormones follitropin (FSH) and luteinizing hormone (LH). ",校对中... +HP:0008214,Decreased serum estradiol ,血清雌二醇水平降低,A reduction below normal concentration of estradiol in the circulation. ,校对中... +HP:0008216,Adrenal gland dysgenesis ,肾上腺发育不全,Abnormal development of the adrenal gland. ,校对中... +HP:0008221,Adrenal hyperplasia ,肾上腺增生,Enlargement of the adrenal gland. ,校对中... +HP:0008222,Female infertility ,女性不孕症, , +HP:0008223,Compensated hypothyroidism ,代偿性甲状腺功能减退症,Condition associated with a raised serum concentration of thyroid stimulating hormone (TSH) but a normal serum free thyroxine (FT4). ,校对中... +HP:0008225,Thyroid follicular hyperplasia ,甲状腺滤泡增生, , +HP:0008226,Androgen insufficiency ,雄激素不足,Insufficient amount of androgenic activity. ,校对中... +HP:0008227,Pituitary resistance to thyroid hormone ,垂体对甲状腺激素不敏感,"A condition in which the pituitary gland is partially resistant to thyroid hormone, so that it continues to secrete thyroid-stimulating hormone (TSH) until the blood level of thyroid hormone rises higher than normal. ",校对中... +HP:0008229,Thyroid lymphangiectasia ,甲状腺淋巴管扩张症,The presence of lymphangiectasis of the thyroid gland. ,校对中... +HP:0008231,Macronodular adrenal hyperplasia ,大结节性肾上腺皮质增生症, , +HP:0008232,Elevated circulating follicle stimulating hormone level ,血液卵泡刺激素水平升高,An elevated concentration of follicle-stimulating hormone in the blood. ,校对中... +HP:0008233,Decreased circulating progesterone ,血液孕酮水平降低,An reduced concentration of progesterone in the blood. ,校对中... +HP:0008236,Isosexual precocious puberty ,同性性早熟, , +HP:0008237,Hypothalamic hypothyroidism ,下丘脑性甲状腺功能减退,A type of hypothyroidism that results from a defect in thyrotropin-releasing hormone activity. ,校对中... +HP:0008239,Adrenal medullary hypoplasia ,肾上腺髓质发育不全,Developmental hypoplasia of the adrenal medulla. ,校对中... +HP:0008240,Secondary growth hormone deficiency ,继发性生长激素缺乏症, , +HP:0008242,Pseudohypoaldosteronism ,假性醛固酮减少症,A state of renal tubular unresponsiveness or resistance to the action of aldosterone. ,校对中... +HP:0008244,Congenital adrenal hypoplasia ,先天性肾上腺发育不全,A type of adrenal hypoplasia with congenital onset. ,校对中... +HP:0008245,Pituitary hypothyroidism ,垂体性甲状腺功能减退症,A type of hypothyroidism that results from a defect in thyroid-stimulating hormone secretion. ,校对中... +HP:0008247,Euthyroid hyperthyroxinemia ,甲状腺功能正常的高甲状腺素血症,An abnormality of thyroid physiology (HP:0002926) characterized by increased levels of thyroxine without evidence of clinical thyroid disease. ,校对中... +HP:0008249,Thyroid hyperplasia ,甲状腺增生,Hyperplasia of the thyroid gland. ,校对中... +HP:0008250,Infantile hypercalcemia ,婴儿高钙血症, , +HP:0008255,Transient neonatal diabetes mellitus ,新生儿短暂性糖尿病, , +HP:0008256,Adrenocortical adenoma ,肾上腺皮质腺瘤,Adrenocortical adenomas are benign tumors of the adrenal cortex. ,校对中... +HP:0008258,Congenital adrenal hyperplasia ,先天性肾上腺增生症,A type of adrenal hyperplasia with congenital onset. ,校对中... +HP:0008259,Adrenocorticotropin receptor defect ,促肾上腺皮质激素受体缺陷,Adrenal insufficiency secondary to a defect in the ACTH receptor. ,校对中... +HP:0008261,Pancreatic islet cell adenoma ,胰岛细胞腺瘤,The presence of an adenoma of the pancreas with origin in a pancreatic B cell. ,校对中... +HP:0008263,Thyroid defect in oxidation and organification of iodide ,甲状腺碘氧化和有机化缺陷, , +HP:0008264,Neutrophil inclusion bodies ,中性粒细胞包涵体,"The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neutrophils. Cytoplasmic neutrophil inclusions (oval, basophilic) are also known as Doehle bodies. ",校对中... +HP:0008269,Increased red cell hemolysis by shear stress ,剪切应力相关的红细胞溶血增加, , +HP:0008271,Abnormal cartilage collagen ,软骨胶原蛋白异常,"Abnormal morphology of collagen fibers in cartilage. In cartilage, collagen II, actually a collagen II:IX:XI heterofibril, is by far the most important type of collagen. A number of abnormalities may be appreciated by electron micrography or biochemical investigations, including sparse collagen fibers in the cartilage matrix. ",校对中... +HP:0008273,Transient aminoaciduria ,短暂性氨基酸尿, , +HP:0008275,Abnormal light-adapted electroretinogram ,光适应视网膜电图异常, , +HP:0008277,Abnormal blood zinc concentration ,锌离子稳态平衡异常,An abnormality of zinc ion homeostasis. ,校对中... +HP:0008278,Cerebellar cortical atrophy ,小脑皮质萎缩,Atrophy (wasting) of the cerebellar cortex. ,校对中... +HP:0008279,Transient hyperlipidemia ,短暂性高脂血症, , +HP:0008281,Acute hyperammonemia ,急性高氨血症,An increased concentration of ammonia in the blood with sudden onset. ,校对中... +HP:0008282,Unconjugated hyperbilirubinemia ,高非结合胆红素血症,An increased amount of unconjugated (indirect) bilurubin in the blood. ,校对中... +HP:0008283,Fasting hyperinsulinemia ,空腹高胰岛素血症,"An increased concentration of insulin in the blood in the fasting state, i.e., not as the response to food intake. ",校对中... +HP:0008285,Transient hypophosphatemia ,短暂性低磷血症, , +HP:0008288,Nonketotic hyperglycinemia ,非酮症性高甘氨酸血症, , +HP:0008291,Pituitary corticotropic cell adenoma ,垂体促肾上腺皮质激素腺瘤,A type of pituitary adenoma that produces adrenocorticotropic hormone (ACTH). ,校对中... +HP:0008293,Long-chain dicarboxylic aciduria ,长链二羧基酸尿症,An increase in the level of long-chain dicarboxylic acid in the urine. ,校对中... +HP:0008297,Transient hyperphenylalaninemia ,短暂性高苯丙氨酸血症,"A condition of not having consistently high levels of phenylalanine in the blood but of experiencing temporary hyperphenylalaninemia following ingestion of large quantities of phenylalanine (for instance, following an oral loading test with phenylalanine). ",校对中... +HP:0008301,Dermatan sulfate excretion in urine ,尿液中硫酸皮肤素排泄,An increased concentration of dermatan sulfate in the urine. ,校对中... +HP:0008305,Exercise-induced myoglobinuria ,运动后肌红蛋白尿,Presence of myoglobin in the urine following exercise. ,校对中... +HP:0008306,Abnormal iron deposition in mitochondria ,线粒体内铁沉积异常, , +HP:0008309,Medium chain dicarboxylic aciduria ,中链长二羧酸尿症,An increase in the level of medium chain dicarboxylic acid in the urine. ,校对中... +HP:0008311,Spinal cord posterior columns myelin loss ,脊髓后柱髓鞘脱失, , +HP:0008314,Decreased activity of mitochondrial complex II ,线粒体复合物II活性降低,"A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria. ",校对中... +HP:0008315,Decreased plasma free carnitine ,血浆游离肉碱降低,A decreased concentration of free (unbound) carnitine in the blood. ,校对中... +HP:0008316,Abnormal mitochondria in muscle tissue ,肌肉组织中线粒体异常,An abnormality of the mitochondria in muscle tissue. ,校对中... +HP:0008318,Elevated leukocyte alkaline phosphatase ,白细胞碱性磷酸酶活性升高,Increased alkaline phosphatase measured within leukocytes. ,校对中... +HP:0008320,Impaired collagen-induced platelet aggregation ,胶原诱导的血小板凝集障碍,Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. ,校对中... +HP:0008321,Reduced factor X activity ,凝血因子X活性减低,"Reduced activity of coagulation factor X. The extrinsic and intrinsic pathways converge at factor X (fX). The extrinsic pathway activates fX by means of d factor VII with its cofactor, tissue factor. The intrinsic pathway activates fX by means of the tenase complex (Ca2+ and factors VIIIa, IXa and X) on the surface of activated platelets. Factor Xa in turn activates prothrombin (factor II) to thrombin (factor IIa). ",校对中... +HP:0008322,Abnormal mitochondrial morphology ,线粒体形态异常,Any structural anomaly of the mitochondria. ,校对中... +HP:0008323,Abnormal light- and dark-adapted electroretinogram ,异常的明暗适应视网膜电流图,An abnormality of the combined rod-and-cone response on electroretinogram. ,校对中... +HP:0008326,Reduced circulating vitamin B6 level ,维生素B6缺乏症,An abnormally decreased concentration of vitamin B6 in the blood circulation. ,校对中... +HP:0008330,Reduced von Willebrand factor activity ,血管性血友病因子活性减低,Decreased activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. ,校对中... +HP:0008331,Elevated creatine kinase after exercise ,运动后肌酸激酶升高, , +HP:0008339,Diaminoaciduria ,双氨基酸尿,"An increased urine level of any amino acid carrying two amino groups (Asparagine, glutamine and lysine, cystine, ornithine). ",校对中... +HP:0008341,Distal renal tubular acidosis ,远端肾小管性酸中毒,"A type of renal tubular acidosis characterized by a failure of acid secretion by the alpha intercalated cells of the cortical collecting duct of the distal nephron. The urine cannot be acidified below a pH of 5.3, associated with acidemia and hypokalemia. ",校对中... +HP:0008344,Elevated plasma branched chain amino acids ,血浆支链氨基酸水平升高,An increased concentration of a branched chain amino acid in the blood. ,校对中... +HP:0008346,Increased red cell sickling tendency ,镰状红细胞增加倾向, , +HP:0008347,Decreased activity of mitochondrial complex IV ,线粒体复合物IV活性降低,"A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria. ",校对中... +HP:0008348,Decreased circulating IgG2 level ,循环IgG2水平降低,A reduction in immunoglobulin levels of the IgG2 subclass in the blood circulation. ,校对中... +HP:0008353,Neutral hyperaminoaciduria ,中性高氨基酸尿,"The presence of an abnormally increased concentration of neutral amino acids in the urine. The neutral amino acids are tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine. ",校对中... +HP:0008354,Factor X activation deficiency ,凝血因子X活性降低,Reduced ability to transform factor X into its activated form factor Xa. ,校对中... +HP:0008357,Reduced factor XIII activity ,凝血因子XIII活性减低,Decreased activity of coagulation factor XIII (also known as fibrin stabilizing factor). Activated Factor XIII cross-links fibrin polymers solidifying the clot. ,校对中... +HP:0008358,Hyperprolinemia ,高脯氨酸血症,An increased concentration of proline in the blood. ,校对中... +HP:0008362,Aplasia/Hypoplasia of the hallux ,拇趾发育不良/发育不全,Absence or underdevelopment of the big toe. ,校对中... +HP:0008363,Aplasia/Hypoplasia of the tarsal bones ,跗骨发育不良/发育不全,Absence or underdevelopment of the tarsal bones. ,校对中... +HP:0008364,Abnormality of the calcaneus ,跟骨异常,"An abnormality of the calcaneus, also known as the heel bone, one of the or heel bone, one of the components of the tarsus of the foot which make up the heel. ",校对中... +HP:0008366,Contractures involving the joints of the feet ,足关节挛缩, , +HP:0008368,Tarsal synostosis ,跗骨骨性融合,"Synostosis (bony fusion) involving one or more bones of the tarsus (calcaneus, talus, cuboid, navicular, cuneiiform bones). ",校对中... +HP:0008372,Abnormality of vitamin A metabolism ,维生素A代谢异常, , +HP:0008373,Puberty and gonadal disorders ,青春期及性腺疾病, , +HP:0008376,"Nasal, dysarthic speech ",鼻，构音障碍, , +HP:0008383,Slow-growing nails ,甲生长缓慢,Nails whose growth is slower than normal. ,校对中... +HP:0008386,Aplasia/Hypoplasia of the nails ,甲发育缺陷/不全,Aplasia or developmental hypoplasia of the nail. ,校对中... +HP:0008388,Abnormal toenail morphology ,趾甲形态异常,An anomaly of the toenail. ,校对中... +HP:0008390,Recurrent loss of toenails and fingernails ,指（趾）甲反复脱落,"Repeated loss, or shedding, of the nails of the fingers and toes. ",校对中... +HP:0008391,Dystrophic fingernails ,指甲营养不良,"The presence of misshapen or partially destroyed nail plates, often with accumulation of soft, yellow keratin between the dystrophic nail plate and nail bed, resulting in elevation of the nail plate. ",校对中... +HP:0008392,Subungual hyperkeratosis ,甲下角化过度,A thickening of the stratum corneum in the region beneath the nails. ,校对中... +HP:0008394,Congenital onychodystrophy ,先天性甲营养不良, , +HP:0008396,Chronic monilial nail infection ,慢性念珠菌性甲感染,Chronic infection of the nails by Candida species. ,校对中... +HP:0008398,Hypoplastic fifth fingernail ,第5指甲发育不良,"A nail of the fifth finger that is diminished in length and width, i.e., underdeveloped nail of little finger. ",校对中... +HP:0008401,Onychogryposis of toenails ,趾甲弯曲,Thickened toenails. ,校对中... +HP:0008402,Ridged fingernail ,指甲纵嵴,"Longitudinal, linear prominences in the fingernail plate. ",校对中... +HP:0008404,Nail dystrophy ,甲营养不良,Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate. ,校对中... +HP:0008410,Subungual hyperkeratotic fragments ,甲下片状角化过度, , +HP:0008414,Lumbar kyphosis in infancy ,婴儿期腰椎后凸, , +HP:0008416,Six lumbar vertebrae ,六块腰椎, , +HP:0008417,Vertebral hypoplasia ,椎体发育不全,"Small, underdeveloped vertebral bodies. ",校对中... +HP:0008418,Squared-off platyspondyly ,方形扁平椎, , +HP:0008419,Intervertebral disc degeneration ,椎间盘退行性变,The presence of degenerative changes of intervertebral disk. ,校对中... +HP:0008420,Punctate vertebral calcifications ,椎体点状钙化,The presence of punctiform calcification of the bone of the vertebral bodies. ,校对中... +HP:0008421,Tall lumbar vertebral bodies ,腰椎椎体的高度增加, , +HP:0008422,Vertebral wedging ,椎体楔形变,An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other. ,校对中... +HP:0008424,Hypoplastic 5th lumbar vertebrae ,第五腰椎发育不良, , +HP:0008428,Vertebral clefting ,椎体裂,Schisis (cleft or cleavage) of vertebral bodies. ,校对中... +HP:0008430,Anterior beaking of lumbar vertebrae ,腰椎前缘鸟喙样凸出,Anterior tongue-like protrusions of the vertebral bodies of the lumbar spine. ,校对中... +HP:0008432,Anterior wedging of L1 ,腰1椎体前侧楔形,An abnormality of the shape of the lumbar vertebra L1 such that it is wedge-shaped (narrow towards the front). ,校对中... +HP:0008434,Hypoplastic cervical vertebrae ,颈椎发育不良, , +HP:0008435,Absent in utero ossification of vertebral bodies ,在子宫内椎体未发生骨化, , +HP:0008436,Absent/hypoplastic coccyx ,尾骨缺如或发育不良, , +HP:0008437,Bifid thoracic vertebrae ,胸椎纵裂, , +HP:0008438,Vertebral arch anomaly ,椎弓异常,"A morphological abnormality of the vertebral arch, i.e., of the posterior part of a vertebra. ",校对中... +HP:0008439,Lumbar hemivertebrae ,腰椎半椎体,Absence of one half of the vertebral body in the lumbar spine. ,校对中... +HP:0008440,C1-C2 vertebral abnormality ,C1-C2寰枢椎椎体异常,Any abnormality of the atlas and the axis. ,校对中... +HP:0008441,Herniation of intervertebral nuclei ,椎间盘髓核疝出,The presence of one or more herniated nucleus pulposus of intervertebral disk. ,校对中... +HP:0008442,Vertebral hyperostosis ,椎体骨质增生,Excessive growth of the bones of the vertebral bodies. ,校对中... +HP:0008443,Spinal deformities ,脊柱变形, , +HP:0008444,Posterior wedging of vertebral bodies ,椎体后侧楔形,"An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back). ",校对中... +HP:0008445,Cervical spinal canal stenosis ,颈椎椎管狭窄,An abnormal narrowing of the cervical spinal canal. ,校对中... +HP:0008447,Hypoplastic coccygeal vertebrae ,尾骨发育不良, , +HP:0008449,Progressive cervical vertebral spine fusion ,进行性颈椎融合, , +HP:0008450,Narrow vertebral interpedicular distance ,椎弓根间隙变窄,"A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces. ",校对中... +HP:0008451,Posterior vertebral hypoplasia ,后脊椎发育不良, , +HP:0008453,Congenital kyphoscoliosis ,先天性脊柱后侧凸畸形, , +HP:0008454,Lumbar kyphosis ,腰椎后凸,Over curvature of the lumbar region. ,校对中... +HP:0008455,Dysplastic sacrum ,骶骨发育不良,"A developmental defect of the sacrum characterized by partial or disordered development of the sacrum in which portions of the sacrum, which normally is formed by fusion of five sacral vertebrae S1-S5, fail to form or fail to form normally. ",校对中... +HP:0008456,C2-C3 subluxation ,C2-C3椎体半脱位,A partial dislocation of the intervertebral joint between the second and third cervical vertebrae. ,校对中... +HP:0008457,Caudal interpedicular narrowing ,尾骨椎弓根狭窄,"Narrowing (becoming gradually narrower) of the distance between vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. Note that normally, the interpedicular distances get progressively wider as one proceeds down the spine. ",校对中... +HP:0008458,Progressive congenital scoliosis ,进行性先天性脊柱侧凸,A progressive form of scoliosis with congenital onset. ,校对中... +HP:0008460,Hypoplastic spinal processes ,棘突发育不良, , +HP:0008462,Cervical instability ,颈椎不稳, , +HP:0008463,Central vertebral hypoplasia ,环椎发育不良, , +HP:0008467,Thoracic hemivertebrae ,胸椎半椎体,Absence of one half of the vertebral body in the thoracic spine. ,校对中... +HP:0008468,Abnormal sacral segmentation ,骶骨分节异常,An abnormality related to a defect of vertebral separation of sacral vertebrae during development. ,校对中... +HP:0008469,Cervical vertebral dysplasia ,颈椎发育不良,Dysplasia of the cervical vertebral column. ,校对中... +HP:0008470,Lower thoracic interpediculate narrowness ,下段胸椎弓根间隙狭窄,A reduction of the distance between the lower thoracic vertebral pedicles. ,校对中... +HP:0008472,Prominent protruding coccyx ,尾骨突出, , +HP:0008475,Hypoplastic sacral vertebrae ,骶椎发育不良, , +HP:0008476,Irregular sclerotic endplates ,不规则硬化终板, , +HP:0008477,Poorly ossified cervical vertebrae ,颈椎骨化不良,"Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set. ",校对中... +HP:0008478,Scheuermann-like vertebral changes ,Scheuermann样椎体改变, , +HP:0008479,Hypoplastic vertebral bodies ,椎体发育不良, , +HP:0008480,Cervical spondylosis ,颈椎病,"The presence of arthrosis, i.e., of degenerative joint disease, affecting the cervical vertebral column. ",校对中... +HP:0008482,Asymmetry of spinal facet joints ,脊柱小关节不对称, , +HP:0008484,Thoracolumbar interpediculate narrowness ,胸腰椎弓根间隙狭窄,A reduction of the distance between thoracolumbar vertebral pedicles. ,校对中... +HP:0008486,Lumbar interpedicular narrowing ,腰椎弓根间隙缩窄,Narrowing (becoming gradually narrower) of the distance between lumbar vertebral pedicles that gets progressively more severe towards to caudal (lower) end of the vertebral column. ,校对中... +HP:0008488,Anterior rounding of vertebral bodies ,椎体前侧变圆, , +HP:0008491,Premature anterior fontanel closure ,前囟过早闭合,"Early closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. ",校对中... +HP:0008494,Inferior lens subluxation ,晶状体下部半脱位,Partial displacement of the lens in the inferior direction. ,校对中... +HP:0008497,Congenital craniofacial dysostosis ,先天性颅面骨发育不全, , +HP:0008498,No permanent dentition ,无恒牙, , +HP:0008499,High hypermetropia ,高度远视,A severe form of hypermetropia with over +5.00 diopters. ,校对中... +HP:0008501,Median cleft lip and palate ,唇腭正中裂,Cleft lip or palate affecting the midline region of the palate. ,校对中... +HP:0008504,Moderate sensorineural hearing impairment ,中度感音神经性听力损失,The presence of a moderate form of sensorineural hearing impairment. ,校对中... +HP:0008509,Aged leonine appearance ,衰老的狮面面容, , +HP:0008511,Central posterior corneal opacity ,中央后角膜混浊,Reduced transparency of the central posterior portion of the corneal stroma. ,校对中... +HP:0008513,Bilateral conductive hearing impairment ,双侧传导性听觉障碍,A bilateral type of conductive hearing impairment. ,校对中... +HP:0008516,Abnormality of the vertebral spinous processes ,椎体棘突异常, , +HP:0008517,Aplasia/Hypoplasia of the sacrum ,骶骨发育不良/发育不全,Aplasia or developmental hypoplasia of the sacral bone. ,校对中... +HP:0008523,Posterior helix pit ,耳轮后凹陷,Permanent indentation on the posteromedial aspect of the helix that may be sharply or indistinctly delineated. ,校对中... +HP:0008527,Congenital sensorineural hearing impairment ,先天性感音神经性听力障碍,A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset. ,校对中... +HP:0008528,Long hairs growing from helix of pinna ,耳轮毛发过长, , +HP:0008529,Absence of acoustic reflex ,声反射缺失,"Absence of the acoustic reflex, an involuntary contraction of the stapedius muscle that occurs in response to high-intensity sound stimuli. ",校对中... +HP:0008537,Cleft at the superior portion of the pinna ,上部耳廓裂, , +HP:0008541,Superiorly displaced ears ,优势替代耳, , +HP:0008542,Low-frequency hearing loss ,低频听力损失,A type of hearing impairment affecting primarily the low frequencies of sound (125 Hz to 1000 Hz). ,校对中... +HP:0008544,Abnormally folded helix ,耳轮卷曲异常, , +HP:0008551,Microtia ,小耳畸形,Underdevelopment of the external ear. ,校对中... +HP:0008554,Cochlear malformation ,耳蜗畸形,The presence of a malformed cochlea. ,校对中... +HP:0008555,Absent vestibular function ,前庭功能缺失,Complete lack of functioning of the vestibular apparatus. ,校对中... +HP:0008559,Hypoplastic superior helix ,耳轮上部发育不全, , +HP:0008568,Vestibular areflexia ,前庭反射消失,Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography. ,校对中... +HP:0008569,"Microtia, second degree ",小耳畸形，2级,"Median longitudinal length of the ear more than two standard deviations below the mean in the presence of some, but not all, parts of the normal ear. ",校对中... +HP:0008572,External ear malformation ,外耳畸形,A malformation of the auricle of the ear. ,校对中... +HP:0008573,Low-frequency sensorineural hearing impairment ,低频感音神经性听力障碍,A form of sensorineural hearing impairment that affects primarily the lower frequencies. ,校对中... +HP:0008577,Underfolded helix ,耳轮卷曲减少,"Underdevelopment of the helix that either affects the entire helix, or is localized. ",校对中... +HP:0008583,Underfolded superior helices ,耳轮上部卷曲减少,A condition in which the superior portion of the helix is folded over to a lesser degree than normal. ,校对中... +HP:0008586,Hypoplasia of the cochlea ,耳蜗发育不全,Developmental hypoplasia of the cochlea. ,校对中... +HP:0008587,Mild neurosensory hearing impairment ,轻度感音神经性听力损失,The presence of a mild form of sensorineural hearing impairment. ,校对中... +HP:0008588,Slit-like opening of the exterior auditory meatus ,外耳道隙状开口,A type of stenosis of the external auditory meatus in which the opening of the external auditory meatus appears as a vertical slit. ,校对中... +HP:0008589,Hypoplastic helices ,耳轮发育不全,"Underdevelopment of the helix, i.e., of the outer rim of the pinna. ",校对中... +HP:0008591,Congenital conductive hearing impairment ,先天性传导性听力障碍,A type of conductive deafness with congenital onset. ,校对中... +HP:0008593,Prominent antitragus ,对耳屏突出,Increased anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. ,校对中... +HP:0008596,Postlingual sensorineural hearing impairment ,学语后感音神经性听力损失,A form of sensorineural hearing impairment with onset after the acquisition of speech. ,校对中... +HP:0008598,Mild conductive hearing impairment ,轻度传导性听力损失,A mild form of conductive hearing impairment. ,校对中... +HP:0008605,Unilateral external ear deformity ,单侧外耳畸形, , +HP:0008606,Supraauricular pit ,耳前瘘管,Benign congenital lesion of the supraauricular soft tissue consisting of a blind-ending narrow tube or pit. ,校对中... +HP:0008607,Progressive conductive hearing impairment ,渐进性传导性听力损失,A progressive type of conductive deafness. ,校对中... +HP:0008608,Hypertrophic auricular cartilage ,耳廓软骨肥大, , +HP:0008609,Morphological abnormality of the middle ear ,中耳形态异常,An abnormality of the morphology or structure of the middle ear. ,校对中... +HP:0008610,Infantile sensorineural hearing impairment ,婴幼儿感音神经性听力损失,A form of sensorineural hearing impairment with infantile onset. ,校对中... +HP:0008615,Adult onset sensorineural hearing impairment ,成人感觉神经性听力障碍,The presence of sensorineural deafness with late onset. ,校对中... +HP:0008619,Bilateral sensorineural hearing impairment ,双侧感音神经性听觉障碍,A bilateral form of sensorineural hearing impairment. ,校对中... +HP:0008625,Severe sensorineural hearing impairment ,重度感音神经性耳聋,A severe form of sensorineural hearing impairment. ,校对中... +HP:0008628,Abnormality of the stapes ,镫骨异常,"An abnormality of the stapes, a stirrup-shaped ossicle in the middle ear. ",校对中... +HP:0008629,Pulsatile tinnitus ,搏动性耳鸣,"Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation. ",校对中... +HP:0008633,Agonadism ,无性腺症,Absence of sex glands (gonads are the organs that produce gametes; testis in males and ovary in females). ,校对中... +HP:0008635,Hypertrophy of the urinary bladder ,膀胱肥大,Abnormal enlargement of the urinary bladder. ,校对中... +HP:0008639,Gonadal hypoplasia ,性腺发育不良, , +HP:0008640,Congenital macroorchidism ,先天性大睾丸, , +HP:0008643,Nephroblastomatosis ,肾母细胞瘤病,Presence of persistent islands of renal blastema in the postnatal kidney. Nephroblastomatosis represents a complex abnormality of nephrogenesis and has been defined as the persistence of metanephricblastema into infancy and childhood. ,校对中... +HP:0008647,Pubertal developmental failure in females ,女性青春期性发育障碍, , +HP:0008651,Uric acid urolithiasis independent of gout ,非痛风引起的尿路尿酸结石, , +HP:0008652,Autonomic erectile dysfunction ,自主性勃起功能障碍,Impotence (inability to develop or maintain an erection) resulting from abnormal functioning of the autonomic nervous system. ,校对中... +HP:0008653,Crescentic glomerulonephritis ,新月体肾小球肾炎,A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. ,校对中... +HP:0008655,Aplasia/Hypoplasia of the fallopian tube ,输卵管发育不全/发育不良,Aplasia or developmental hypoplasia of the fallopian tube. ,校对中... +HP:0008659,Multiple small medullary renal cysts ,多发性肾髓质小囊肿,The presence of many cysts in the medulla of the kidney. ,校对中... +HP:0008660,Renotubular dysgenesis ,肾小管发育不全,A developmental defect characterized by absence or poor development of proximal renal tubules. ,校对中... +HP:0008661,Urethral stenosis ,尿道狭窄,Abnormal narrowing of the urethra. ,校对中... +HP:0008663,Renal sarcoma ,肾肉瘤,A sarcoma of the kidney. ,校对中... +HP:0008665,Clitoral hypertrophy ,阴蒂肥大,Hypertrophy of the clitoris. ,校对中... +HP:0008668,"Gonadal dysgenesis, male ",男性性腺发育不良,"Unusual gonadal development in a person with a 46,XY male karyotype, leading to an unassigned sex differentiation. ",校对中... +HP:0008669,Abnormal spermatogenesis ,生精异常,Incomplete maturation or aberrant formation of the male gametes. ,校对中... +HP:0008672,Calcium oxalate nephrolithiasis ,草酸钙肾结石,The presence of calcium- and oxalate-containing calculi (stones) in the kidneys. ,校对中... +HP:0008675,Enlarged polycystic ovaries ,增大的多囊卵巢, , +HP:0008676,Congenital megaureter ,先天性巨输尿管症,A developmental disturbance with extreme ureteral dilatation. ,校对中... +HP:0008677,Congenital nephrotic syndrome ,先天性肾病综合征,Nephrotic syndrome with onset within the first three months of life. ,校对中... +HP:0008678,Renal hypoplasia/aplasia ,肾发育不良/不全,Absence or underdevelopment of the kidney. ,校对中... +HP:0008682,Renal tubular epithelial necrosis ,肾小管上皮细胞坏死,"Coagulative necrosis of tubular epithelial cells, defined as cells with increased cytoplasmic eosinophilia and nucleus that has a condensed chromatin pattern with fuzzy nuclear contour or has barely visible nuclear basophilic staining. The extent of cortical tubular necrosis is scoredsemiquantitatively as none, mild (less than 25% tubules with necrosis), moderate (25-50 percent), and severe (over 50%). ",校对中... +HP:0008683,Enlarged labia minora ,小阴唇增大,Increase in size of the folds of skin between the outer labia. ,校对中... +HP:0008684,Aplasia/hypoplasia of the uterus ,子宫发育不全/发育不良,Absence or developmental hypoplasia of the uterus. ,校对中... +HP:0008687,Hypoplasia of the prostate ,前列腺发育不良, , +HP:0008689,Bilateral cryptorchidism ,双侧隐睾,Absence of both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. ,校对中... +HP:0008695,Transient nephrotic syndrome ,瞬态肾病综合征, , +HP:0008696,Renal hamartoma ,肾错构瘤,A disordered proliferation of mature tissues that are native to the kidneys. ,校对中... +HP:0008697,Hypoplasia of the fallopian tube ,输卵管发育不良,Developmental hypoplasia of the fallopian tube. ,校对中... +HP:0008703,Gonadal calcification ,性腺钙化,Deposition of calcium salts in gonadal tissue. ,校对中... +HP:0008706,Distal urethral duplication ,远端尿道重复畸形, , +HP:0008707,Absent scrotum ,阴囊缺如,Congenital absence of the scrotum. ,校对中... +HP:0008708,Partial development of the penile shaft ,局部阴茎体发育, , +HP:0008715,Testicular dysgenesis ,睾丸发育不全, , +HP:0008716,Urethrovaginal fistula ,尿道阴道瘘,The presence of a fistula between the vagina and the urethra. ,校对中... +HP:0008718,Unilateral renal dysplasia ,单侧肾发育不良,A unilateral form of developmental dysplasia of the kidney. ,校对中... +HP:0008722,Urethral diverticulum ,尿道憩室,The presence of a diverticulum (sac or pouch) in the wall of the urethra. ,校对中... +HP:0008723,"Gonadal dysgenesis with female appearance, male ",男性性腺发育不全，女性外表,"Unusual gonadal development in a person with a 46,XY male karyotype, leading to a more female sex differentiation. ",校对中... +HP:0008724,Hypoplasia of the ovary ,卵巢发育不良,Developmental hypoplasia of the ovary. ,校对中... +HP:0008726,Hypoplasia of the vagina ,阴道发育不良,Developmental hypoplasia of the vagina. ,校对中... +HP:0008729,Absence of labia majora ,大阴唇缺如, ,校对中... +HP:0008730,"Female external genitalia in individual with 46,XY karyotype ","染色体核型为46,XY的个体具有女性外生殖器",The presence of female external genitalia in a person with a male karyotype. ,校对中... +HP:0008732,Renal hypophosphatemia ,肾性低磷血症,"Renal hypophosphatemia is defined as reduced serum phosphate (e.g., below 0.70 mmol/l) and an inappropriately high renal phosphate excretion. ",校对中... +HP:0008733,Dysplastic testes ,睾丸发育不良, , +HP:0008734,Decreased testicular size ,睾丸体积过小,Reduced volume of the testicle (the male gonad). ,校对中... +HP:0008736,Hypoplasia of penis ,阴茎发育不良, , +HP:0008738,Partially duplicated kidney ,部分性重复肾,The presence of a partially duplicated kidney. ,校对中... +HP:0008739,Labial pseudohypertrophy ,阴唇假性肥厚, , +HP:0008740,Longitudinal vaginal septum ,阴道纵膈,"The presence of a longitudinal vaginal septum, thereby creating a vaginal duplication. ",校对中... +HP:0008743,Coronal hypospadias ,冠状沟型尿道下裂,A mild form of hypospadias in which the urethra opens just under the corona glandis. ,校对中... +HP:0008744,Abnormal aryepiglottic fold morphology ,杓会厌皱襞形态异常,An abnormality of the aryepiglottic fold. ,校对中... +HP:0008747,Cartilaginous ossification of larynx ,喉软骨骨化,Ossification affecting the set of cartilages of larynx. ,校对中... +HP:0008749,Laryngeal hypoplasia ,喉发育不全,Underdevelopment of the larynx. ,校对中... +HP:0008750,Laryngeal atresia ,喉闭锁,Congenital absence of the lumen of the larynx. ,校对中... +HP:0008751,Laryngeal cleft ,喉裂,Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus. ,校对中... +HP:0008752,Laryngeal cartilage malformation ,喉软骨畸形,A malformation of the laryngeal cartilage. ,校对中... +HP:0008753,Aplasia of the epiglottis ,会厌发育不全,Absence of the epiglottis. ,校对中... +HP:0008754,Laryngeal calcification ,喉钙化,Calcification (abnormal deposits of calcium) in the laryngeal tissues. ,校对中... +HP:0008755,Laryngotracheomalacia ,喉气管软化, , +HP:0008756,Bowing of the vocal cords ,声带弯曲,Bowing (abnormal curvature) of the vocal folds. ,校对中... +HP:0008757,Unilateral vocal cord paralysis ,单侧声带麻痹,A loss of the ability to move the vocal fold on one side. ,校对中... +HP:0008760,Violent behavior ,暴力行为, , +HP:0008762,Repetitive compulsive behavior ,重复强迫行为, , +HP:0008763,No social interaction ,无社会交往, , +HP:0008765,Auditory hallucinations ,幻听,The false perception of sound. ,校对中... +HP:0008767,Self-mutilation of tongue and lips due to involuntary movements ,不自主运动导致舌头和嘴唇自残, , +HP:0008768,Inappropriate sexual behavior ,不适宜的性行为, , +HP:0008770,Obsessive-compulsive trait ,强迫特质,"The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant. ",校对中... +HP:0008772,Aplasia/Hypoplasia of the external ear ,外耳发育缺陷/不全,The presence of aplasia or developmental hypoplasia of all or part of the external ear. ,校对中... +HP:0008776,Abnormal renal artery morphology ,肾动脉形态异常,Any structural abnormality of the renal artery. ,校对中... +HP:0008780,Congenital bilateral hip dislocation ,先天性双侧髋关节脱位, , +HP:0008783,Wide proximal femoral metaphysis ,股骨近端干骺端增宽,Increased width of the proximal part of the shaft (metaphysis) of the femur. ,校对中... +HP:0008784,Wide capital femoral epiphyses ,股骨头骨骺增宽,Abnormally wide morphology of the proximal epiphysis of the femur. ,校对中... +HP:0008785,Delayed ossification of pubic rami ,耻骨骨化延迟,Delayed maturation and calcification of the rami (branches) of the pubic bone. ,校对中... +HP:0008786,Iliac crest serration ,髂嵴锯齿状缘,Irregularities of the iliac crest that produce the appearance of a lace border around it. ,校对中... +HP:0008788,Delayed pubic bone ossification ,耻骨骨化延迟,Delayed maturation and calcification of the pubic bone. ,校对中... +HP:0008789,Cone-shaped capital femoral epiphysis ,锥形股骨头骨骺,A cone-shaped deformity of the proximal epiphysis of the femur. ,校对中... +HP:0008794,Dysplastic iliac wing ,髂骨翼发育不良,A general term that describes a congenital defect in the iliac wing resulting from abnormal development. ,校对中... +HP:0008796,Externally rotated hips ,臀部外旋, , +HP:0008797,Early ossification of capital femoral epiphyses ,早发性股骨头骨骺骨化,Developmental acceleration of ossification of the proximal epiphysis of the femur. ,校对中... +HP:0008798,Widened greater sciatic notch ,坐骨大切迹变宽,"The sacroiliac joint in the bony pelvis connects the sacrum and the ilium of the pelvis, which are joined by strong ligaments. The notch is located directly superior to the joint. This term refers to a increase in the lateral dimension of the notch. ",校对中... +HP:0008800,Limited hip movement ,髋部运动受限,A decreased ability to move the femur at the hip joint associated with a decreased range of motion of the hip. ,校对中... +HP:0008801,Hypoplasia of the lesser trochanter ,小转子发育低下,Underdevelopment of the lesser trochanter. ,校对中... +HP:0008802,Hypoplasia of the femoral head ,股骨头发育低下,Underdevelopment of the femoral head. ,校对中... +HP:0008804,Broad femoral head ,股骨头变宽,Increased width of the femoral head. ,校对中... +HP:0008807,Acetabular dysplasia ,髋臼发育不良,The presence of developmental dysplasia of the acetabular part of hip bone. ,校对中... +HP:0008808,High iliac wing ,高髂骨翼,Increased height of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). ,校对中... +HP:0008812,Flattened femoral head ,股骨头扁平,An abnormally flattened femoral head. ,校对中... +HP:0008817,Aplastic pubic bones ,耻骨发育不全, , +HP:0008818,Large iliac wing ,大髂骨翼,Increased size of the ilium ala. ,校对中... +HP:0008819,Narrow femoral neck ,股骨颈狭窄,"An abnormally reduced diameter of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). ",校对中... +HP:0008821,Hypoplastic inferior ilia ,髂骨发育不良, , +HP:0008822,Hypoplastic ischiopubic rami ,坐骨支发育不良,"Underdevelopment of the ischiopubic ramus, which is comprised of the inferior pubic ramus and the inferior ramus of the ischium. ",校对中... +HP:0008823,Hypoplastic inferior pubic rami ,下耻骨支发育不良, , +HP:0008824,Hypoplastic iliac body ,髂骨体发育不良,Underdevelopment of the body of ilium. ,校对中... +HP:0008826,Dislocation of the femoral head ,股骨头脱位,Joint dislocation of the femoral head. ,校对中... +HP:0008828,Delayed proximal femoral epiphyseal ossification ,股骨近端骨骺骨化延迟,Developmental delay of ossification of the proximal epiphysis of the femur. ,校对中... +HP:0008829,Delayed femoral head ossification ,股骨头骨化延迟,Delayed ossification of the femoral head. ,校对中... +HP:0008830,Hypoplastic pubic rami ,耻骨支发育不良, , +HP:0008833,Irregular acetabular roof ,不规则髋臼顶, , +HP:0008835,Multicentric femoral head ossification ,股骨头多中心骨化,There is normally one ossification center in the head of the femur. This term applies if there are multiple such centers. ,校对中... +HP:0008838,Stippled calcification proximal humeral epiphyses ,肱骨近端骨骺点状钙化, , +HP:0008839,Hypoplastic pelvis ,骨盆发育不良,Underdevelopment of the bony pelvis. ,校对中... +HP:0008843,Hip osteoarthritis ,髋关节骨关节炎, , +HP:0008845,Mesomelic short stature ,肢中部的身材矮小,A type of disproportionate short stature characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg). ,校对中... +HP:0008846,Severe intrauterine growth retardation ,严重的胎儿宫内发育迟缓,"Intrauterine growth retardation that is 4 or more standard deviations below average, corrected for sex and gestational age. ",校对中... +HP:0008848,Moderately short stature ,中度身材矮小,"A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex. ",校对中... +HP:0008850,Severe postnatal growth retardation ,严重的产后生长发育迟缓,"Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. ",校对中... +HP:0008855,Moderate postnatal growth retardation ,中度产后发育迟缓,"A moderate degree of slow or limited growth after birth, being between three and four standard deviations below age- and sex-related norms. ",校对中... +HP:0008857,Neonatal short-trunk short stature ,新生儿躯干短小,A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with congenital onset recognizable at birth. ,校对中... +HP:0008866,Failure to thrive secondary to recurrent infections ,反复感染导致发育迟缓,"Insufficient weight gain or inappropriate weight loss for a child, that is attributed to an endogenous recurrent infections. ",校对中... +HP:0008872,Feeding difficulties in infancy ,婴儿期喂养困难,"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. ",校对中... +HP:0008873,Disproportionate short-limb short stature ,不相称的短肢矮小,A type of disproportionate short stature characterized by a short limbs but an average-sized trunk. ,校对中... +HP:0008883,Mild intrauterine growth retardation ,轻度胎儿宫内发育迟缓,"Intrauterine growth retardation that is at least 2 standard deviations (SD) below average, but not as low as 3 SD, corrected for sex and gestational age. ",校对中... +HP:0008887,Adipose tissue loss ,脂肪组织丢失,A loss of adipose tissue. ,校对中... +HP:0008890,Severe short-limb dwarfism ,严重的短肢侏儒症, , +HP:0008897,Postnatal growth retardation ,出生后生长迟缓,Slow or limited growth after birth. ,校对中... +HP:0008905,Rhizomelia ,肢体近端缩短,Disproportionate shortening of the proximal segment of limbs (i.e. the femur and humerus). ,校对中... +HP:0008909,Lethal short-limbed short stature ,致死性短肢型矮小, , +HP:0008915,Childhood-onset truncal obesity ,儿童期发病的躯干肥胖,"Truncal obesity with onset during childhood, defined as between 2 and 10 years of age. ",校对中... +HP:0008921,Neonatal short-limb short stature ,新生儿短肢型矮小,A type of short-limbed dwarfism that is manifest beginning in the neonatal period. ,校对中... +HP:0008922,Childhood-onset short-trunk short stature ,儿童期发病的短躯干矮小,A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in childhood. ,校对中... +HP:0008935,Generalized neonatal hypotonia ,全身性新生儿肌张力低下,Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period and affecting the entire musculature. ,校对中... +HP:0008936,Muscular hypotonia of the trunk ,躯干肌张力减退,Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk. ,校对中... +HP:0008940,Generalized lymphadenopathy ,全身性淋巴结肿大,A generalized form of lymphadenopathy. ,校对中... +HP:0008942,Acute rhabdomyolysis ,急性横纹肌溶解症,An acute form of rhabdomyolysis. ,校对中... +HP:0008944,Distal lower limb amyotrophy ,下肢远端肌肉肌萎缩,Muscular atrophy of distal leg muscles. ,校对中... +HP:0008945,Loss of ability to walk in early childhood ,幼儿早期行走能力丧失, , +HP:0008946,Pelvic girdle amyotrophy ,骨盆带肌萎缩,"Atrophy of the muscles of the pelvic girdle (also known as hip girdle), i.e., the gluteal muscles, the lateral rotators, the adductors, the psoas major and the iliacus muscle. ",校对中... +HP:0008947,Infantile muscular hypotonia ,婴儿型肌张力减退,Muscular hypotonia (abnormally low muscle tone) manifesting in infancy. ,校对中... +HP:0008948,Proximal upper limb amyotrophy ,上肢近端肌萎缩,Muscular atrophy affecting proximally located muscles of the arms. ,校对中... +HP:0008952,Shoulder muscle hypoplasia ,肩部肌肉发育不良,Underdevelopment of muscles of the shoulder. ,校对中... +HP:0008953,Pectoralis major hypoplasia ,胸大肌发育不良,Underdevelopment of the pectoralis major. ,校对中... +HP:0008954,Intrinsic hand muscle atrophy ,手部内在肌萎缩,"Atrophy of the intrinsic muscle groups of the hand, comprising the thenar and hypothenar muscles; the interossei muscles; and the lumbrical muscles. ",校对中... +HP:0008955,Progressive distal muscular atrophy ,进行性远端肌萎缩,Progressive muscular atrophy affecting muscles in the distal portions of the extremities. ,校对中... +HP:0008956,Proximal lower limb amyotrophy ,下肢近端肌肉萎缩,"Muscular atrophy affecting proximally located muscles of the legs, i.e., of the thigh. ",校对中... +HP:0008959,Distal upper limb muscle weakness ,上肢远端肌无力,Reduced strength of the distal musculature of the arms. ,校对中... +HP:0008962,Calf muscle hypoplasia ,小腿肌肉发育不良,Underdevelopment of the muscuklature of the calf. ,校对中... +HP:0008963,Tibialis muscle weakness ,胫骨肌无力,Muscle weakness affecting the tibialis anterior muscle. ,校对中... +HP:0008964,Nonprogressive muscular atrophy ,非进行性肌萎缩,Muscular atrophy that does not display a progression in severity with time. ,校对中... +HP:0008967,Exercise-induced muscle stiffness ,运动诱发的肌肉僵硬,A type of muscle stiffness that occurs following physical exertion. ,校对中... +HP:0008968,Muscle hypertrophy of the lower extremities ,下肢肌肥大,Muscle hypertrophy primarily affecting the legs. ,校对中... +HP:0008969,Leg muscle stiffness ,腿部肌肉僵硬, , +HP:0008970,Scapulohumeral muscular dystrophy ,肩肱肌营养不良, , +HP:0008972,Decreased activity of mitochondrial respiratory chain ,线粒体呼吸链活性降低,Decreased activity of the mitochondrial respiratory chain. ,校对中... +HP:0008978,Necrotizing myopathy ,坏死性肌病, , +HP:0008981,Calf muscle hypertrophy ,小腿肌肉肥大,Muscle hypertrophy affecting the calf muscles. ,校对中... +HP:0008985,Increased intramuscular fat ,肌内脂肪增多,An abnormal increase in the amount of intramuscular fat tissue. ,校对中... +HP:0008986,Agenesis of the diaphragm ,横膈发育不全,"Congenital lack, i.e., aplasia of the diaphragm. ",校对中... +HP:0008988,Pelvic girdle muscle atrophy ,骨盆带肌萎缩,"Muscular atrophy affecting the muscles that attach to the pelvic girdle (the gluteal muscles, the lateral rotators, adductor magnus, adductor brevis, adductor longus, pectineus, and gracilis muscles). ",校对中... +HP:0008991,Exercise-induced leg cramps ,运动诱发腿抽筋,Sudden and involuntary contractions of one or more muscles of the leg brought on by physical exertion. ,校对中... +HP:0008993,Increased intraabdominal fat ,腹内脂肪增多,An abnormal increase in the amount of intraabdominal fat tissue. ,校对中... +HP:0008994,Proximal muscle weakness in lower limbs ,下肢近端肌无力,A lack of strength of the proximal muscles of the legs. ,校对中... +HP:0008997,Proximal muscle weakness in upper limbs ,上肢近端肌无力,A lack of strength of the proximal muscles of the arms. ,校对中... +HP:0008998,Pectoralis hypoplasia ,胸大肌发育不良,Underdevelopment of the pectoral muscle. ,校对中... +HP:0009002,Loss of truncal subcutaneous adipose tissue ,躯干部皮下脂肪组织丢失,Loss (reduction of previously present) of subcutaneous adipose tissue in the region of the trunk. ,校对中... +HP:0009003,Increased subcutaneous truncal adipose tissue ,躯干部皮下脂肪组织增多,The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body. ,校对中... +HP:0009004,Hypoplasia of the musculature ,肌肉组织发育不全,Underdevelopment of the musculature. ,校对中... +HP:0009005,Weakness of the intrinsic hand muscles ,手内在肌无力, , +HP:0009016,Upper limb muscle hypoplasia ,上肢肌肉发育不良,Underdevelopment of muscles of the arm. ,校对中... +HP:0009017,Loss of gluteal subcutaneous adipose tissue ,臀部皮下脂肪组织丢失,Loss (reduction of previously present) of subcutaneous adipose tissue in the gluteal region. ,校对中... +HP:0009019,Progressive loss of facial adipose tissue ,进行性面部脂肪组织丢失, , +HP:0009020,Exercise-induced muscle fatigue ,运动诱发的肌肉疲劳,An abnormally increased tendency towards muscle fatigue induced by physical exercise. ,校对中... +HP:0009023,Abdominal wall muscle weakness ,腹壁肌无力,Decreased strength of the abdominal musculature. ,校对中... +HP:0009025,Increased connective tissue ,结缔组织增多,The presence of an abnormally increased amount of connective tissue. ,校对中... +HP:0009027,Foot dorsiflexor weakness ,足背屈无力,"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. ",校对中... +HP:0009028,Generalized weakness of limb muscles ,广泛性四肢肌肉无力,Generalized weakness of the muscles of the arms and legs. ,校对中... +HP:0009031,Amyotrophy of ankle musculature ,踝部肌肉萎缩,Atrophy of the muscles of the ankle. ,校对中... +HP:0009042,Marked muscular hypertrophy ,显著肌肉肥大,Severe hypertrophy (increase in size) of muscle cells. ,校对中... +HP:0009045,Exercise-induced rhabdomyolysis ,运动诱发的横纹肌溶解,Rhabdomyolysis induced by exercise. ,校对中... +HP:0009046,Difficulty running ,跑步困难,Reduced ability to run. ,校对中... +HP:0009049,Peroneal muscle atrophy ,腓骨肌萎缩,"Atrophy of the peroneous muscles, peroneus longus (also known as Fibularis longus), Peroneus brevis (also known as fibularis brevis, and Peroneus tertius (also known as fibularis tertius). ",校对中... +HP:0009050,Quadriceps muscle atrophy ,股四头肌肌肉萎缩,Muscular atrophy involving the quadriceps muscle. ,校对中... +HP:0009051,Increased muscle glycogen content ,肌糖原含量增加,An increased amount of glycogen in muscle tissue. ,校对中... +HP:0009053,Distal lower limb muscle weakness ,下肢远端肌无力,Reduced strength of the distal musculature of the legs. ,校对中... +HP:0009054,Scapuloperoneal myopathy ,肩腓肌肌病, , +HP:0009055,Generalized limb muscle atrophy ,广泛性四肢肌肉萎缩,Generalized (unlocalized) atrophy affecting muscles of the limbs in both proximal and distal locations. ,校对中... +HP:0009056,Loss of subcutaneous adipose tissue from upper limbs ,上肢皮下脂肪组织丢失, , +HP:0009058,Increased muscle lipid content ,肌肉脂肪含量增加,An abnormal accumulation of lipids in skeletal muscle. ,校对中... +HP:0009059,Congenital generalized lipodystrophy ,先天性全身脂肪营养不良, , +HP:0009060,Scapular muscle atrophy ,肩胛肌萎缩,"Atrophy of the muscles that are responsible for moving the scapula, which are the levator scapulae, the infraspinatus muscle, the teres major, the teres minor, and the supraspinatus muscle. ",校对中... +HP:0009062,Infantile axial hypotonia ,婴儿轴向肌张力减退,Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy. ,校对中... +HP:0009063,Progressive distal muscle weakness ,进行性远端肌无力,Progressively reduced strength of the distal musculature. ,校对中... +HP:0009064,Generalized lipodystrophy ,全身脂肪营养不良,Generalized degenerative changes of the fat tissue. ,校对中... +HP:0009069,Lethal infantile mitochondrial myopathy ,致死型婴儿线粒体肌病, , +HP:0009071,Inflammatory myopathy ,炎症性肌病,Chronic muscle inflammation accompanied by muscle weakness. ,校对中... +HP:0009072,Decreased Achilles reflex ,跟腱反射减弱,"Decreased intensity of the Achilles reflex (also known as the ankle jerk reflex), which can be elicited by tapping the tendon is tapped while the foot is dorsiflexed. ",校对中... +HP:0009073,Progressive proximal muscle weakness ,进行性近端肌无力,Lack of strength of the proximal muscles that becomes progressively more severe. ,校对中... +HP:0009077,Weakness of long finger extensor muscles ,第三指伸肌无力, , +HP:0009084,Midline notch of upper alveolar ridge ,上牙床中线缺口, , +HP:0009085,Alveolar ridge overgrowth ,牙槽嵴增生,Increased width of the alveolar ridges. ,校对中... +HP:0009088,Speech articulation difficulties ,言语表达困难,Impairment in the physical production of speech sounds. ,校对中... +HP:0009092,Progressive alveolar ridge hypertropy ,渐进性牙槽嵴肥厚, , +HP:0009094,Cleft lower alveolar ridge ,下牙槽嵴裂, , +HP:0009098,Chronic oral candidiasis ,慢性口腔念珠菌病,"Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx. ",校对中... +HP:0009099,Median cleft palate ,正中腭裂,Cleft palate of the midline of the palate. ,校对中... +HP:0009100,Thick anterior alveolar ridges ,前牙槽嵴厚, , +HP:0009101,Submucous cleft lip ,粘膜下唇裂,A cleft of the lip with overlying mucous membrane. ,校对中... +HP:0009102,Anterior open-bite malocclusion ,前牙开咬错位咬合畸形,"Anterior open bite is a malocclusion characterized by a gap between the anterior teeth (incisors), that is, by a deficiency in the normal vertical overlap between antagonist incisal edges when the posterior teeth are in occlusion. ",校对中... +HP:0009103,Aplasia/Hypoplasia involving the pelvis ,骨盆骨发育不良/发育不全, , +HP:0009104,Aplasia/Hypoplasia of the pubic bone ,耻骨发育不良/发育不全,Absence or underdevelopment of the pubic bone. ,校对中... +HP:0009106,Abnormal pelvis bone ossification ,骨盆骨骨化异常,An abnormality of the formation and mineralization of any bone of the bony pelvis. ,校对中... +HP:0009107,Abnormal ossification involving the femoral head and neck ,股骨颈和股骨头骨化异常, , +HP:0009109,Denervation of the diaphragm ,膈肌去神经支配,Interruption of the innervation of the diaphragm. ,校对中... +HP:0009110,Diaphragmatic eventration ,膈肌缺陷,"A congenital failure of muscular development of part or all of one or both hemidiaphragms, resulting in superior displacement of abdominal viscera and altered lung development. ",校对中... +HP:0009112,Aplasia of the left hemidiaphragm ,左侧膈肌发育不良,Congenital absence of the left half of the diaphragm. ,校对中... +HP:0009113,Diaphragmatic weakness ,膈肌无力,A decrease in the strength of the diaphragm. ,校对中... +HP:0009118,Aplasia/Hypoplasia of the mandible ,下颌骨发育不良/发育不全,Absence or underdevelopment of the mandible. ,校对中... +HP:0009119,Aplasia/Hypoplasia of the frontal sinuses ,额窦发育不良/发育不全,Absence or underdevelopment of frontal sinus. ,校对中... +HP:0009123,Mixed hypo- and hyperpigmentation of the skin ,皮肤色素减退和色素沉着共存, , +HP:0009124,Abnormal adipose tissue morphology ,脂肪组织形态异常,"An abnormality of adipose tissue, which is loose connective tissue composed of adipocytes. ",校对中... +HP:0009125,Lipodystrophy ,脂肪营养不良,Degenerative changes of the fat tissue. ,校对中... +HP:0009126,Increased adipose tissue ,脂肪组织增多,An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell). ,校对中... +HP:0009127,Abnormality of the musculature of the limbs ,四肢肌肉异常, , +HP:0009129,Upper limb amyotrophy ,上肢肌萎缩,Muscular atrophy involving the muscles of the upper limbs. ,校对中... +HP:0009130,Hand muscle atrophy ,手部肌肉萎缩,Muscular atrophy involving the muscles of the hand. ,校对中... +HP:0009134,Osteolysis involving bones of the feet ,脚骨骨质溶解, , +HP:0009141,Depletion of mitochondrial DNA in muscle tissue ,肌肉组织中线粒体DNA消耗, , +HP:0009145,Abnormal cerebral artery morphology ,脑动脉形态异常,"Any structural anomaly of a cerebral artery. The cerebral arteries comprise three main pairs of arteries and their branches, which supply the cerebrum of the brain. These are the anterior cerebral artery, the middle cerebral artery, and the posterior cerebral artery. ",校对中... +HP:0009161,Aplasia/Hypoplasia of the middle phalanx of the 5th finger ,第五指中节指骨发育不全/发育不良,Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger. ,校对中... +HP:0009162,Absent middle phalanx of 5th finger ,第五指中节指骨缺失,Absence of the middle phalanx of the little (5th) finger. ,校对中... +HP:0009164,Abnormal calcification of the carpal bones ,腕骨钙化异常, , +HP:0009177,Proximal/middle symphalangism of 5th finger ,第五指近节/中节关节融合,Fusion of the proximal and middle phalanges of the 5th finger. ,校对中... +HP:0009179,Deviation of the 5th finger ,第五指偏斜,Displacement of the 5th finger from its normal position. ,校对中... +HP:0009182,Triangular shaped middle phalanx of the 5th finger ,第五指三角形中节指骨,Triangular shaped middle phalanx of the 5th (little) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. ,校对中... +HP:0009183,Joint contracture of the 5th finger ,第五指关节挛缩,Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected. ,校对中... +HP:0009185,Contracture of the proximal interphalangeal joint of the 5th finger ,第五指近节指间关节挛缩,"Proximal interphalangeal (PIP) flexion deformity of the little finger. That is, the PIP joint of a little finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. ",校对中... +HP:0009189,Fragmentation of the metacarpal epiphyses ,掌骨骨骺碎裂,Fragmented appearance of the epiphyses of the metacarpals. ,校对中... +HP:0009193,Pseudoepiphyses of the metacarpals ,掌骨假骨骺,"A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone. ",校对中... +HP:0009226,Short proximal phalanx of the 5th finger ,第五指近节指骨短,Hypoplastic/small proximal phalanx of the fifth finger. ,校对中... +HP:0009237,Short 5th finger ,第五指发育不全或不发育,"Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. ",校对中... +HP:0009238,Aplasia of the 5th finger ,第五指发育不全,Absent 5th (little) finger. ,校对中... +HP:0009244,Distal/middle symphalangism of 5th finger ,第五指末节/中节指关节融合,Fusion of the terminal/distal and middle phalanges of the 5th finger. ,校对中... +HP:0009274,Joint contracture of the 4th finger ,第四指关节挛缩,Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected. ,校对中... +HP:0009276,Contracture of the proximal interphalangeal joint of the 4th finger ,第四指的近端指间关节挛缩,"Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue. That is, the PIP joint of a fourth finger is bent (flexed) and cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement. ",校对中... +HP:0009279,Radial deviation of the 4th finger ,第四指桡向偏斜,"Displacement of the 4th finger towards the radial side (i.e., towards the thumb). ",校对中... +HP:0009281,Aplasia of the 4th finger ,第四指发育不全,Absent 4th finger. ,校对中... +HP:0009290,Short distal phalanx of the 4th finger ,第四指末节指骨短,Hypoplastic/small distal phalanx of the fourth finger. ,校对中... +HP:0009295,Short middle phalanx of the 4th finger ,第四指中节指骨短,"Hypoplastic/small middle phalanx of the 4th finger, also known as the ring finger. ",校对中... +HP:0009324,Enlarged epiphysis of the middle phalanx of the 3rd finger ,第三指中节指骨骨骺膨大,Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms. ,校对中... +HP:0009331,Triangular epiphysis of the middle phalanx of the 3rd finger ,第三指中节指骨三角形骨骺,A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. ,校对中... +HP:0009349,Enlarged epiphysis of the proximal phalanx of the 3rd finger ,第三指近节指骨骨骺膨大,Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms. ,校对中... +HP:0009356,Triangular epiphysis of the proximal phalanx of the 3rd finger ,第三指近节指骨三角形骨骺,A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. ,校对中... +HP:0009371,Type A1 brachydactyly ,A1型短指, , +HP:0009372,Type A2 brachydactyly ,A2型短指, , +HP:0009373,Type C brachydactyly ,C型短指, , +HP:0009374,Broad phalanges of the 5th finger ,第五指指骨变宽,Increased width of the phalanges of the 5th finger. ,校对中... +HP:0009381,Short finger ,短指畸形,Abnormally short finger associated with developmental hypoplasia. ,校对中... +HP:0009417,Pseudoepiphyses of the 3rd finger ,第三指假骨骺,A secondary ossification center in the third finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. ,校对中... +HP:0009436,Triangular shaped middle phalanx of the 3rd finger ,第三指三角形中节指骨,Triangular shaped middle phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. ,校对中... +HP:0009439,Short middle phalanx of the 3rd finger ,第三指中节指骨短,Hypoplasia (congenital reduction in size) of the middle phalanx of the third finger. ,校对中... +HP:0009456,Triangular shaped proximal phalanx of the 3rd finger ,第三指三角形近节指骨,Triangular shaped proximal phalanx of the 3rd (middle) finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. ,校对中... +HP:0009460,Aplasia of the 3rd finger ,第三指发育不全,Absent 3rd finger. ,校对中... +HP:0009461,Short 3rd finger ,第三指短,Hypoplastic/small 3rd (middle) finger. ,校对中... +HP:0009462,Radial deviation of the 3rd finger ,第三指桡侧偏,"Displacement of the 3rd finger towards the radial side (i.e., towards the thumb). ",校对中... +HP:0009463,Ulnar deviation of the 3rd finger ,第三指向尺侧偏斜,"Displacement of the 3rd finger towards the ulnar side (i.e., towards the ring finger). ",校对中... +HP:0009464,Ulnar deviation of the 2nd finger ,第二指向尺侧偏斜,Displacement of the 2nd (index) finger towards the ulnar side. ,校对中... +HP:0009465,Ulnar deviation of finger ,手指尺侧偏斜,"Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. ",校对中... +HP:0009466,Radial deviation of finger ,手指桡侧偏斜,"Bending or curvature of a finger toward the radial side (i.e., towards the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly. ",校对中... +HP:0009467,Radial deviation of the 2nd finger ,第二指桡侧偏斜,Displacement of the 2nd finger towards the radial side. ,校对中... +HP:0009468,Deviation of the 2nd finger ,第二指偏离,Displacement of the 2nd finger from its normal position. ,校对中... +HP:0009471,Contracture of the proximal interphalangeal joint of the 3rd finger ,第三指近端指间关节挛缩,Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue. ,校对中... +HP:0009473,Joint contracture of the hand ,手指关节痉挛,Contractures of one ore more joints of the hands meaning chronic loss of joint motion due to structural changes in non-bony tissue. ,校对中... +HP:0009477,Proximal/middle symphalangism of 4th finger ,第四手指近、中节指关节融合,Fusion of the proximal and middle phalanges of the 4th finger. ,校对中... +HP:0009484,Deviation of the hand or of fingers of the hand ,手部或手指骨偏斜,Displacement of the hand or of fingers of the hand from their normal position. ,校对中... +HP:0009486,Radial deviation of the hand ,手桡侧偏斜,"An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb). ",校对中... +HP:0009487,Ulnar deviation of the hand ,手向尺侧偏斜,"Divergence of the longitudinal axis of the hand at the wrist in a posterior (ulnar) direction (i.e., towards the little finger). ",校对中... +HP:0009495,Pseudoepiphyses of the 2nd finger ,第二指假骨骺,A secondary ossification center in the second finger that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. ,校对中... +HP:0009516,Enlarged epiphysis of the middle phalanx of the 2nd finger ,第二指中节指骨骨骺膨大, , +HP:0009523,Triangular epiphysis of the middle phalanx of the 2nd finger ,第二指中节指骨三角形骨骺, , +HP:0009527,Enlarged epiphysis of the proximal phalanx of the 2nd finger ,第二指近节指骨骨骺膨大, , +HP:0009534,Triangular epiphysis of the proximal phalanx of the 2nd finger ,第二指近节指骨三角形骨骺, , +HP:0009536,Short 2nd finger ,第二指短,"Hypoplasia of the second finger, also known as the index finger. ",校对中... +HP:0009540,Contracture of the proximal interphalangeal joint of the 2nd finger ,第二指的近节指骨间关节挛缩,Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue. ,校对中... +HP:0009553,Abnormality of the hairline ,发际线异常,The hairline refers to the outline of hair of the head. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair. ,校对中... +HP:0009554,Preauricular hair displacement ,耳前毛发移位,"An tongue-like extension of hair towards the cheeks, in which hair growth extends in front of the ear to the lateral cheekbones. ",校对中... +HP:0009555,Hypoplasia of the pharynx ,咽发育不全,Underdevelopment of the pharynx. ,校对中... +HP:0009556,Absent tibia ,胫骨缺如,Absence of the tibia. ,校对中... +HP:0009565,Aplasia of the distal phalanx of the 2nd finger ,第二指末节指骨发育不全, , +HP:0009566,Short distal phalanx of the 2nd finger ,第二指末节短指骨,Hypoplasia (congenital reduction in size) of the distal phalanx of the second finger. ,校对中... +HP:0009568,Aplasia/Hypoplasia of the middle phalanx of the 2nd finger ,第二指中节指骨发育不全或发育不良, , +HP:0009575,Triangular shaped middle phalanx of the 2nd finger ,第二指三角形中节指骨,Triangular shaped middle phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. ,校对中... +HP:0009576,Absent middle phalanx of 2nd finger ,第二指中节指骨缺失,Absence of the middle phalanx of the index (2nd) finger. ,校对中... +HP:0009577,Short middle phalanx of the 2nd finger ,第二指中节短指骨,"Hypoplasia (congenital reduction in size) of the middle phalanx of the second finger, also known as the index finger. ",校对中... +HP:0009587,Triangular shaped proximal phalanx of the 2nd finger ,第二指三角形近节指骨,Triangular shaped proximal phalanx of the 2nd finger. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. ,校对中... +HP:0009588,Vestibular Schwannoma ,前庭神经鞘瘤,"A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear. ",校对中... +HP:0009589,Bilateral vestibular Schwannoma ,双侧前庭神经鞘瘤,A bilateral vestibular Schwannoma (acoustic neurinoma). ,校对中... +HP:0009590,Unilateral vestibular Schwannoma ,单侧前庭神经鞘瘤,A unilateral vestibular Schwannoma (acoustic neurinoma). ,校对中... +HP:0009591,Abnormality of the vestibulocochlear nerve ,前庭耳蜗神经异常,"Abnormality of the vestibulocochlear nerve, the eighth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain. ",校对中... +HP:0009592,Astrocytoma ,星形细胞瘤,"Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma. ",校对中... +HP:0009593,Peripheral Schwannoma ,周围神经鞘瘤,The presence of a peripheral schwannoma. ,校对中... +HP:0009594,Retinal hamartoma ,视网膜错构瘤,"A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. ",校对中... +HP:0009595,Occasional neurofibromas ,偶发的神经纤维瘤,Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1. ,校对中... +HP:0009597,Short proximal phalanx of the 2nd finger ,第二指近节指骨短,Hypoplasia (congenital reduction in size) of the proximal phalanx of the second finger. ,校对中... +HP:0009600,Flexion contracture of thumb ,拇指屈曲挛缩,Chronic loss of joint motion in the thumb due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected. ,校对中... +HP:0009601,Aplasia/Hypoplasia of the thumb ,拇指发育不全或发育不良,Hypoplastic/small or absent thumb. ,校对中... +HP:0009603,Deviation of the thumb ,拇指偏离/移位,Displacement of the thumb from its normal position. ,校对中... +HP:0009606,Complete duplication of distal phalanx of the thumb ,拇指末节指骨完全重复,Complete duplication of the distal phalanx of the thumb. On x-ray two separate bones appear side to side. ,校对中... +HP:0009608,Complete duplication of proximal phalanx of the thumb ,拇指近节指骨完全重复,"Complete duplication of the proximal phalanx of the thumb. On x-ray two separate bones appear side to side. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. ",校对中... +HP:0009611,Bifid distal phalanx of the thumb ,拇指末节指骨部分重复,"Partial duplication of the distal phalanx of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones. ",校对中... +HP:0009617,Abnormality of the distal phalanx of the thumb ,拇指末节指骨异常,Any anomaly of the distal phalanx of thumb. ,校对中... +HP:0009623,Proximal placement of thumb ,拇指近置,Proximal mislocalization of the thumb. ,校对中... +HP:0009626,Contractures of the interphalangeal joint of the thumb ,拇指指间关节挛缩,Chronic loss of joint motion of the interphalangeal joint of the thumb due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis. ,校对中... +HP:0009637,Absent proximal phalanx of thumb ,拇指近节指骨缺如,"Absence of the proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. ",校对中... +HP:0009638,Short proximal phalanx of thumb ,拇指近节指骨缩短,"Hypoplastic (short) proximal phalanx of the thumb. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. ",校对中... +HP:0009640,Synostosis of the proximal phalanx of the thumb with the 1st metacarpal ,拇指近节指骨与第一掌骨骨性连合,Fusion of the proximal phalanx of the thumb with the 1st metacarpal. ,校对中... +HP:0009642,Broad distal phalanx of the thumb ,拇指末节指骨增宽,Increased width of the distal phalanx of thumb. ,校对中... +HP:0009648,Triangular shaped distal phalanx of the thumb ,拇指三角形末节指骨,Triangular shaped distal phalanx of the thumb. A triangular or so called delta shaped phalanx is a typical result after a bracket epiphysis of the affected phalanx. ,校对中... +HP:0009650,Short distal phalanx of the thumb ,拇指远节指骨缩短,Hypoplastic (short) distal phalanx of the thumb. ,校对中... +HP:0009658,Aplasia/Hypoplasia of the phalanges of the thumb ,拇指指骨发育不全或发育不良, , +HP:0009660,Short phalanx of the thumb ,拇指指骨缩短,Hypoplastic (short) thumb phalanx. ,校对中... +HP:0009684,Stippling of the epiphysis of the distal phalanx of the thumb ,拇指末节指骨骨骺点状钙化,"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb. ",校对中... +HP:0009693,Pseudoepiphysis of the thumb ,拇指假骨骺,A pseudoepiphysis (which is a secondary ossification center distinct from the normal epiphysis) of one or more phalanges of the thumb. ,校对中... +HP:0009697,Contracture of the distal interphalangeal joint of the fingers ,远端指关节挛缩,Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers. ,校对中... +HP:0009700,Finger symphalangism ,指骨骨性融合,"An abnormal union between bones or parts of bones of the fingers. The synonymous term ""symphalangism of the hand"" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as ""Symphalangism"" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as ""bony"" Syndactyly. ",校对中... +HP:0009701,Metacarpal synostosis ,掌骨骨性融合,"Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx). ",校对中... +HP:0009702,Carpal synostosis ,腕骨骨性融合,"Synostosis (bony fusion) involving one or more bones of the carpus (scaphoid, lunate, triquetrum, trapezium, trapezoid, capitate, hamate, pisiform). ",校对中... +HP:0009703,Synostosis involving the 1st metacarpal ,第一掌骨的骨性连合,"Fusion of the 1st metacarpal with another bone. In contrast to the proximal phalanges of the digits 2 to 5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. ",校对中... +HP:0009704,Chronic CSF lymphocytosis ,慢性脑脊液淋巴细胞增多,"Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter. ",校对中... +HP:0009709,Increased CSF interferon alpha ,脑脊液干扰素α升高,Increased concentration of interferon alpha in the cerebrospinal fluid (CSF). ,校对中... +HP:0009710,Chilblains ,冻疮,"Chilblains, also called perniosis, are an inflammatory skin condition related to an abnormal vascular response to the cold. We are unaware of a reliable estimate of incidence. It typically presents as tender, pruritic red or bluish lesions located symmetrically on the dorsal aspect of the fingers, toes, ears and nose. Less commonly, reports describe involvement of the thighs and buttocks. The lesions present hours after exposure to cold and usually resolve spontaneously in one to three weeks. ",校对中... +HP:0009711,Retinal capillary hemangioma ,视网膜毛细血管瘤,A benign vascular tumor of the retina without any neoplastic characteristics. ,校对中... +HP:0009713,Spinal hemangioblastoma ,脊髓血管母细胞瘤,A hemangioblastoma of the spinal cord. ,校对中... +HP:0009714,Abnormality of the epididymis ,附睾异常,An abnormality of the epididymis. ,校对中... +HP:0009715,Papillary cystadenoma of the epididymis ,附睾乳头状囊腺瘤,"A cystadenoma, an epithelial tumor, that originates within the head of the epididymis. ",校对中... +HP:0009716,Subependymal nodules ,室管膜下结节,Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis. ,校对中... +HP:0009717,Cortical tubers ,皮质结节,"Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients. ",校对中... +HP:0009718,Subependymal giant-cell astrocytoma ,室管膜下巨细胞星形细胞瘤,"A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis. ",校对中... +HP:0009719,Hypomelanotic macule ,色素脱失斑,"Hypomelanotic macules (""ash leaf spots"") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis. ",校对中... +HP:0009720,Adenoma sebaceum ,皮脂腺腺瘤,The presence of a sebaceous adenoma with origin in the sebum secreting cells of the skin. ,校对中... +HP:0009721,Shagreen patch ,鲨鱼皮样斑,"A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather. ",校对中... +HP:0009722,Dental enamel pits ,牙釉质凹陷,The presence of small depressions in the dental enamel. ,校对中... +HP:0009723,Abnormality of the subungual region ,甲下组织异常,A lesion located beneath a fingernail or toenail. ,校对中... +HP:0009724,Subungual fibromas ,甲下纤维瘤,The presence of fibromata beneath finger or toenails. ,校对中... +HP:0009725,Bladder neoplasm ,膀胱肿瘤,The presence of a neoplasm of the urinary bladder. ,校对中... +HP:0009726,Renal neoplasm ,肾肿瘤,The presence of a neoplasm of the kidney. ,校对中... +HP:0009727,Achromatic retinal patches ,无色素性视网膜斑块,Areas of the retina lacking pigmentation. Punched out areas of chorioretinal hypopigmentation less than 1 disc diameter in size and tending to be located in the midperiphery of the retina. ,校对中... +HP:0009729,Cardiac rhabdomyoma ,心脏横纹肌瘤,A benign tumor of cardiac striated muscle. ,校对中... +HP:0009732,Plexiform neurofibroma ,丛状神经纤维瘤,"A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. ",校对中... +HP:0009733,Glioma ,神经胶质瘤,"The presence of a glioma, which is a neoplasm of the central nervous system originating from a glial cell (astrocytes or oligodendrocytes). ",校对中... +HP:0009734,Optic nerve glioma ,视神经胶质瘤,A glioma originating in the optic nerve or optic chiasm. ,校对中... +HP:0009735,Spinal neurofibromas ,脊髓神经纤维瘤,Neurofibromas originating in the spine. ,校对中... +HP:0009736,Tibial pseudarthrosis ,胫骨假关节,"Pseudarthrosis, or ""false joint"" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life. ",校对中... +HP:0009737,Lisch nodules ,Lisch结节,"The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris.. ",校对中... +HP:0009738,Abnormality of the antihelix ,对耳轮异��,An abnormality of the antihelix. ,校对中... +HP:0009739,Hypoplasia of the antihelix ,对耳轮发育不全,Developmental hypoplasia of the antihelix. ,校对中... +HP:0009740,Aplasia of the parotid gland ,腮腺未发育,Absence of the parotid gland. ,校对中... +HP:0009741,Nephrosclerosis ,肾硬化,"Nephrosclerosis refers to thickening or scarring (""sclerosis"") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries. ",校对中... +HP:0009742,Stiff shoulders ,肩部僵硬,Shoulder joint stiffness is a perceived sensation of tightness in shoulders when attempting to move them after a period of inactivity. ,校对中... +HP:0009743,Distichiasis ,双行睫,Double rows of eyelashes. ,校对中... +HP:0009745,Spinal arachnoid cyst ,脊髓蛛网膜囊肿,Presence of arachnoid cysts of the spinal canal extradurally in the epidural space. ,校对中... +HP:0009746,Thick nasal septum ,鼻中隔增厚,Abnormally increased thickness of the nasal septum. ,校对中... +HP:0009747,Lumbosacral hirsutism ,腰骶部多毛症,Abnormally increased hair growth in the lumbosacral region. ,校对中... +HP:0009748,Large earlobe ,大耳垂,"Increased volume of the earlobe, that is, abnormally prominent ear lobules. ",校对中... +HP:0009751,Aplasia of the pectoralis major muscle ,胸大肌发育不全,Absence of the pectoralis major muscle. ,校对中... +HP:0009752,Cleft in skull base ,颅底裂,A bony defect in the skull base. ,校对中... +HP:0009754,Fibrous syngnathia ,纤维性牙槽嵴融合,Complete or nearly complete soft tissue fusion of the alveolar ridges. ,校对中... +HP:0009755,Ankyloblepharon ,睑缘粘连,Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue. ,校对中... +HP:0009756,Popliteal pterygium ,腘窝翼状胬肉,A pterygium (or pterygia) occurring in the popliteal region (the back of the knee). ,校对中... +HP:0009757,Intercrural pterygium ,腹股沟翼状胬肉,A pterygium (or pterygia) in the intercrural (groin) region. ,校对中... +HP:0009758,Pyramidal skinfold extending from the base to the top of the nails ,甲近端向远端锥形分布的皮褶,Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome. ,校对中... +HP:0009759,Neck pterygia ,颈部翼状胬肉,Pterygia affecting the neck. ,校对中... +HP:0009760,Antecubital pterygium ,肘前翼状胬肉,"Pterygium affecting the elbow. This is a cutaneous web that can lead to severe flexion contracture of the elbow joint. Antecubital pterygium can be unilateral, bilateral, symmetric, or asysmmetric. ",校对中... +HP:0009761,Anterior clefting of vertebral bodies ,椎体前缘裂隙,Anterior schisis (cleft or cleavage) of vertebral bodies. ,校对中... +HP:0009762,Facial wrinkling ,面部皱褶,Excessive wrinkling of the skin of the face. ,校对中... +HP:0009763,Limb pain ,肢体疼痛,Chronic pain in the limbs with no clear focal etiology. ,校对中... +HP:0009765,Low hanging columella ,鼻小柱下垂,"Columella extending inferior to the level of the nasal base, when viewed from the side. ",校对中... +HP:0009767,Aplasia/Hypoplasia of the phalanges of the hand ,指骨发育不良/发育不全,Small or missing phalangeal bones of the fingers of the hand. ,校对中... +HP:0009768,Broad phalanges of the hand ,指骨变宽,Increased width of the phalanges of the hand. ,校对中... +HP:0009769,Bullet-shaped phalanges of the hand ,子弹形指骨,"The presence of short and wide phalanges which taper distally (""bullet shaped""). ",校对中... +HP:0009771,Osteolytic defects of the phalanges of the hand ,指骨溶骨缺陷,Dissolution or degeneration of bone tissue of the phalanges of the hand. ,校对中... +HP:0009772,Patchy sclerosis of finger phalanx ,指骨斑片状硬化,Uneven (irregular) increase in bone density of one or more of the phalanges of the hand. ,校对中... +HP:0009773,Symphalangism affecting the phalanges of the hand ,指关节融合,Fusion of two or more phalangeal bones of the hand. ,校对中... +HP:0009774,Triangular shaped phalanges of the hand ,三角形指骨, , +HP:0009775,Amniotic constriction ring ,羊膜带狭窄环,"Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders. Constrictive amniotic bands are the result of primary amniotic rupture, which can lead to entanglement of fetal tissue (especially limbs) in fibrous amniotic strands. ",校对中... +HP:0009776,Adactyly ,先天性无指,The absence of all phalanges of all the digits of a limb and the associated soft tissues. ,校对中... +HP:0009777,Absent thumb ,拇指缺如,"Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues. ",校对中... +HP:0009778,Short thumb ,短拇指,Hypoplasia (congenital reduction in size) of the thumb. ,校对中... +HP:0009779,3-4 toe syndactyly ,第三、四脚趾并趾,Syndactyly with fusion of toes three and four. ,校对中... +HP:0009780,Iliac horns ,髂骨角畸形,"Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic. ",校对中... +HP:0009781,Lester's sign ,Lester标志,A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape. ,校对中... +HP:0009783,Biceps aplasia ,肱二头肌发育不全,Absence of the biceps muscle. ,校对中... +HP:0009785,Triceps aplasia ,肱三头肌发育不全,Absence of the triceps muscle. ,校对中... +HP:0009788,Quadriceps aplasia ,股四头肌发育不全,Absence of the quadriceps muscle. ,校对中... +HP:0009789,Perianal abscess ,肛周脓肿,The presence of an abscess located around the anus. ,校对中... +HP:0009790,Hemisacrum ,半骶骨（S2-S5）,"A hemisacral defect involving the sacral vertebrae S2 to S5. In hemisacrum, the first sacral vertebra is intact and there is agenesis involving only S2-S5. ",校对中... +HP:0009791,Bifid sacrum ,骶骨裂,Presence of a bifid sacral bone. ,校对中... +HP:0009792,Teratoma ,畸胎瘤,The presence of a teratoma. ,校对中... +HP:0009793,Presacral teratoma ,骶前畸胎瘤,A type of sacrococcygeal teratoma located anterior to the sacrum and entirely inside the body (Altman type IV). ,校对中... +HP:0009794,Branchial anomaly ,鳃裂异常,Congenital developmental defect arising from the primitive branchial apparatus. ,校对中... +HP:0009795,Branchial fistula ,鳃裂瘘管,A congenital fistula in the neck resulting from incomplete closure of a branchial cleft. ,校对中... +HP:0009796,Branchial cyst ,鳃裂囊肿,A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of a branchial cleft and consists of a subcutaneous cystic mass. Cysts are located anterior or posterior to the ear or in the submandibular region. ,校对中... +HP:0009797,Cholesteatoma ,胆脂瘤,"Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process. In cholesteatoma, a skin cyst grows into the middle ear and mastoid. The cyst is not cancerous but can erode tissue and cause destruction of the ear. ",校对中... +HP:0009798,Euthyroid goiter ,甲状腺功能正常的甲状腺肿,A goiter that is not associated with functional thyroid abnormalities. ,校对中... +HP:0009800,Maternal diabetes ,母体糖尿病,"Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes. ",校对中... +HP:0009802,Aplasia of the phalanges of the hand ,指骨发育不全,Absence of one or more of the phalanges of the hand. ,校对中... +HP:0009803,Short phalanx of finger ,指骨短,"Short (hypoplastic) phalanx of finger, affecting one or more phalanges. ",校对中... +HP:0009804,Tooth agenesis ,牙齿发育不全,The absence of one or more teeth from the normal series by a failureto develop ,校对中... +HP:0009805,Low-output congestive heart failure ,低输出型充血性心力衰竭,"A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes. ",校对中... +HP:0009806,Nephrogenic diabetes insipidus ,肾性尿崩症,A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP). ,校对中... +HP:0009811,Abnormality of the elbow ,肘部异常,An anomaly of the joint that connects the upper and the lower arm. ,校对中... +HP:0009813,Upper limb phocomelia ,上肢短肢畸形,"Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). ",校对中... +HP:0009814,Upper limb peromelia ,上肢不全,"Peromelia affecting only the upper limbs. That is, the distal parts of the arm are missing leading to stump formation. ",校对中... +HP:0009815,Aplasia/hypoplasia of the extremities ,肢体发育不良/发育不全,Absence (due to failure to form) or underdevelopment of the extremities. ,校对中... +HP:0009816,Lower limb undergrowth ,下肢发育不良,Leg shortening because of underdevelopment of one or more bones of the lower extremity. ,校对中... +HP:0009818,Amelia involving the lower limbs ,下肢缺肢,Amelia of one or both legs. ,校对中... +HP:0009820,Lower limb peromelia ,下肢发育不全,"Peromelia affecting only the lower limbs. That is, the distal parts of the leg are missing leading to stump formation. ",校对中... +HP:0009821,Forearm undergrowth ,前臂发育不良,Forearm shortening because of underdevelopment of one or more bones of the forearm. ,校对中... +HP:0009824,Upper limb undergrowth ,上肢发育不良,Arm shortening because of underdevelopment of one or more bones of the upper extremity. ,校对中... +HP:0009826,Limb undergrowth ,肢体发育不良,Limb shortening because of underdevelopment of one or more bones of the extremities. ,校对中... +HP:0009827,Amelia ,缺肢,Congenital absence (aplasia) of one or more limbs. ,校对中... +HP:0009829,Phocomelia ,短肢畸形,"Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia). ",校对中... +HP:0009830,Peripheral neuropathy ,周围神经病,"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. ",校对中... +HP:0009831,Mononeuropathy ,单神经病,A focal lesion of a single peripheral nerve. Damage to a sensory nerve is accompanied by sensory impairment of all modalities in the affected anatomic distribution. ,校对中... +HP:0009832,Abnormal distal phalanx morphology of finger ,末节指骨形态异常,Any anomaly of distal phalanx of finger. ,校对中... +HP:0009834,Abnormal proximal phalanx morphology of the hand ,手指近节指骨形态异常, , +HP:0009835,Aplasia/Hypoplasia of the distal phalanges of the hand ,末节指骨发育不良/发育不全,Absence or underdevelopment of the distal phalanges. ,校对中... +HP:0009836,Broad distal phalanx of finger ,末节指骨变宽,Abnormally wide (broad) distal phalanx of finger. ,校对中... +HP:0009838,Curved distal phalanges of the hand ,末节指骨弯曲, , +HP:0009839,Osteolytic defects of the distal phalanges of the hand ,手末节指骨溶骨性缺陷, , +HP:0009843,Aplasia/Hypoplasia of the middle phalanges of the hand ,中节指骨发育不良/发育不全, , +HP:0009844,Broad middle phalanx of finger ,中节指骨变宽,Increased width of the middle phalanx of finger. ,校对中... +HP:0009845,Bullet-shaped middle phalanges of the hand ,子弹形中节指骨,Any of the middle phalanges with short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. ,校对中... +HP:0009852,Broad proximal phalanges of the hand ,近节指骨变宽,Increased width of the proximal phalanges of the finger. ,校对中... +HP:0009875,Triangular shaped distal phalanges of the hand ,三角形末节指骨, , +HP:0009879,Simplified gyral pattern ,简化脑回模式,An abnormality of the cerebral cortex with fewer gyri but with normal cortical thickness. This pattern is usually often associated with congenital microcephaly. ,校对中... +HP:0009880,Broad distal phalanges of all fingers ,所有手指末节指骨变宽,Abnormally wide (broad) distal phalanx of finger of all fingers. ,校对中... +HP:0009881,Aplasia of the distal phalanges of the hand ,末节指骨发育不全, , +HP:0009882,Short distal phalanx of finger ,末节指骨短,"Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger. ",校对中... +HP:0009883,Duplication of the distal phalanx of hand ,末节指骨重复,"This term applies if one or more of the distal phalanges of the hand are either partially duplicated, depending on severity leading to a broad or bifid appearance of the phalanges, or completely duplicated. ",校对中... +HP:0009884,Tapered distal phalanges of finger ,锥形末节指骨,A reduction in diameter of the distal phalanx of finger towards the distal end. ,校对中... +HP:0009886,Trichorrhexis nodosa ,结节性脆发症,"Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. ",校对中... +HP:0009887,Abnormality of hair pigmentation ,毛发着色异常,An abnormality of hair pigmentation (color). ,校对中... +HP:0009888,Abnormality of secondary sexual hair ,第二性征毛发异常,"Abnormality of the growth of secondary sexual hair, which normally ensues during puberty. In males, secondary sexual hair usually comprises body hair, including underarm, abdominal, chest, and pubic hair. In females, secondary sexual hair usually comprises a lesser degree of body hair, most prominently underarm and pubic hair. ",校对中... +HP:0009890,High anterior hairline ,前发际高,"Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD above the mean. Alternatively, an apparently increased distance between the hairline and the glabella. ",校对中... +HP:0009891,Underdeveloped supraorbital ridges ,眶上嵴发育不全,Flatness of the supraorbital portion of the frontal bones. ,校对中... +HP:0009892,Anotia ,无耳畸形,Complete absence of any auricular structures. ,校对中... +HP:0009894,Thickened ears ,肥厚耳,Increased thickness of the external ear. ,校对中... +HP:0009895,Abnormality of the crus of the helix ,耳轮脚异常,"An abnormality of the crus of the helix, which is the horizontal piece of cartilage located outside the ear canal that divides the upper and lower parts of the ear. ",校对中... +HP:0009896,Abnormality of the antitragus ,对耳屏异常,"An abnormality of the antitragus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch. ",校对中... +HP:0009897,Horizontal crus of helix ,耳轮脚横向,"An abnormal horizontal axis orientation of the crus of the helix. That is, the main axis of the crus of the helix is perpendicular to the medial longitudinal axis of the ear, instead of sloping inferoposteriorly. ",校对中... +HP:0009899,Prominent crus of helix ,耳轮脚突出,"The presence of an abnormally prominent of the crus of the helix. That is, development of the crus helix to the same degree as an average antihelix stem or helix. ",校对中... +HP:0009900,Unilateral deafness ,单侧耳聋,A unilateral absence of sensory perception of sound. ,校对中... +HP:0009901,Crumpled ear ,皱耳,Distortion of the course of the normal folds of the ear and the appearance of supernumerary crura and folds. ,校对中... +HP:0009902,Cleft helix ,耳轮裂,"A notched form of the helix of the ear. That is, a defect in the continuity of the helix, which may occur at any point along its length. ",校对中... +HP:0009904,Prominent ear helix ,耳轮突出,Abnormally prominent ear helix. ,校对中... +HP:0009905,Thin ear helix ,耳轮变薄,Decreased thickness of the helix of the ear. ,校对中... +HP:0009906,Aplasia/Hypoplasia of the earlobes ,耳垂发育缺陷/不全,Absence or underdevelopment of the ear lobes. ,校对中... +HP:0009907,Attached earlobe ,附耳垂,Attachment of the lobe to the side of the face at the lowest point of the lobe without curving upward. ,校对中... +HP:0009908,Anterior creases of earlobe ,耳垂前襞,"Sharply demarcated, typically linear and approximately horizontal, indentations in the outer surface of the ear lobe. ",校对中... +HP:0009909,Uplifted earlobe ,耳垂方向异常,"An abnormal orientation of the earlobes such that they point out- and upward. That is, the lateral surface of ear lobe faces superiorly. ",校对中... +HP:0009911,Abnormal temporal bone morphology ,颞骨形态异常,"Abnormality of the temporal bone of the skull, which is situated at the sides and base of the skull roughly underlying the region of the face known as the temple. ",校对中... +HP:0009912,Abnormality of the tragus ,耳屏异常,An abnormality of the tragus. ,校对中... +HP:0009914,Cyclopia ,独眼,Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose. ,校对中... +HP:0009916,Anisocoria ,瞳孔不等,"Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. ",校对中... +HP:0009917,Persistent pupillary membrane ,瞳孔膜存留,The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. ,校对中... +HP:0009918,Ectopia pupillae ,瞳孔异位,A malposition of the pupil owing to a developmental defect of the iris. ,校对中... +HP:0009919,Retinoblastoma ,视网膜母细胞瘤,A tumor of the eye originating from cells of the retina. ,校对中... +HP:0009921,Duane anomaly ,Duane 异常,A condition associated with a limitation of the horizontal ocular movement with retraction of the globe and narrowing of the palpebral fissure on adduction ,校对中... +HP:0009924,Aplasia/Hypoplasia involving the nose ,鼻发育不全／未发育,Underdevelopment or absence of the nose or parts thereof. ,校对中... +HP:0009926,Epiphora ,泪液分泌增加,"Abnormally increased lacrimation, that is, excessive tearing (watering eye). ",校对中... +HP:0009927,Aplasia of the nose ,鼻发育不全,Complete absence of all nasal structures. ,校对中... +HP:0009928,Thick nasal alae ,鼻翼增厚,Increase in bulk of the ala nasi. ,校对中... +HP:0009931,Enlarged naris ,大鼻孔,Increased aperture of the nostril. ,校对中... +HP:0009932,Single naris ,单鼻孔,The presence of only a single nostril. ,校对中... +HP:0009933,Narrow naris ,鼻孔狭窄,"Slender, slit-like aperture of the nostril. ",校对中... +HP:0009937,Facial hirsutism ,面部多毛症,Excess facial hair. ,校对中... +HP:0009938,Sunken cheeks ,脸颊凹陷,Lack or loss of the soft tissues between the zygomata and mandible. ,校对中... +HP:0009939,Mandibular aplasia ,下颌骨发育不全,Absence of the mandible. ,校对中... +HP:0009941,Asymmetry of the mouth ,嘴不对称,The presence of an asymmetric mouth. ,校对中... +HP:0009942,Duplication of thumb phalanx ,拇指重复,"Complete or partial duplication of the phalanges of the thumb. Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones (bifid), two separate bones appearing side to side, or completely duplicated phalanges (proximal and distal phalanx of the thumb and/or 1st metacarpal). In contrast to the phalanges of the digits 2-5 (proximal, middle and distal), the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. ",校对中... +HP:0009943,Complete duplication of thumb phalanx ,拇指指骨完全重复,"A complete duplication affecting one or more of the phalanges of the thumb. As opposed to a partial duplication were there is still a variable degree of fusion between the duplicated bones, a complete duplication leads to two separate bones appearing side to side (radio-ulnar axis) as seen on x-rays. A duplication leading to an accesory bone appearing in the proximo-distal axis on x-rays, this is actually a different entity called a Pseudoepiphyses (see according terms) sometimes also referred to as Hyperphalangism. ",校对中... +HP:0009944,Partial duplication of thumb phalanx ,拇指指骨部分重复,"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the thumb. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. ",校对中... +HP:0009951,Partial duplication of the distal phalanx of the 2nd finger ,第二指末节指骨部分重复,"Partial duplication of the distal phalanx of index finger, seen on x-rays as a broad and/or bifid phalanx. ",校对中... +HP:0009958,Polydactyly affecting the 3rd finger ,第三指多指, , +HP:0009966,Complete duplication of the middle phalanx of the 3rd finger ,第三指中节指骨完全重复,Complete duplication of the middle phalanx of middle finger. ,校对中... +HP:0009968,Partial duplication of the distal phalanx of the 3rd finger ,第三指末节指骨部分重复,"Partial duplication of the distal phalanx of middle finger, seen on x-rays as a broad and/or bifid phalanx. ",校对中... +HP:0009970,Partial duplication of the proximal phalanx of the 3rd finger ,第三指近节指骨部分重复,"Partial duplication of the third proximal phalanx of hand, seen on x-rays as a broad and/or bifid phalanx. ",校对中... +HP:0009971,Polydactyly affecting the 4th finger ,第四指多指, , +HP:0009999,Partial duplication of the phalanx of hand ,指骨部分重复,"A partial duplication, depending on severity leading to a broad or bifid appearance, affecting one or more of the phalanges of the hand. As opposed to a complete duplication there is still a variable degree of fusion between the duplicated bones. ",校对中... +HP:0010001,Complete duplication of the distal phalanges of the hand ,末节指骨完全重复,A complete duplication affecting one or more of the distal phalanges of the hand. ,校对中... +HP:0010013,Abnormality of the 5th metacarpal ,第五掌骨异常,Any abnormality of the fifth metacarpal bone. ,校对中... +HP:0010017,Cone-shaped epiphysis of the 1st metacarpal ,第一掌骨锥形骨骺,"A cone-shaped appearance of the epiphysis of the 1st metacarpal, producing a 'ball-in-a-socket' appearance. ",校对中... +HP:0010022,Pseudoepiphysis of the 1st metacarpal ,第一掌骨假骨骺,The epiphysis of the first metacarpal is localized at the proximal end of the metacarpal bone although an accessory epiphysis may be located at the distal end of the metacarpal. ,校对中... +HP:0010026,Aplasia/Hypoplasia of the 1st metacarpal ,第一掌骨发育不良或发育不全,"Aplasia or Hypoplasia affecting the 1st metacarpal. In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the digits 2-5 (whereas the proximal phalanx of the thumb is equivalent to the middle phalanges of the other digits). ",校对中... +HP:0010027,Broad 1st metacarpal ,第一掌骨变宽,"Increased width of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits. ",校对中... +HP:0010034,Short 1st metacarpal ,第一掌骨短,A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand. ,校对中... +HP:0010035,Aplasia of the 1st metacarpal ,第一掌骨发育不全,Absent first metacarpal (long bone) of the hand. ,校对中... +HP:0010037,Aplasia of the 2nd metacarpal ,第二掌骨发育不全,Absence of the second long bone of the hand. ,校对中... +HP:0010038,Short 2nd metacarpal ,第二掌骨短,Short second metacarpal bone because of developmental hypoplasia. ,校对中... +HP:0010040,Aplasia of the 3rd metacarpal ,第三掌骨发育不全,Absence of the third long bone of the hand. ,校对中... +HP:0010041,Short 3rd metacarpal ,第三掌骨短,Short third metacarpal bone. ,校对中... +HP:0010043,Aplasia of the 4th metacarpal ,第四掌骨不发育,Absence of the fourth long bone of the hand. ,校对中... +HP:0010044,Short 4th metacarpal ,第四掌骨短,Short fourth metacarpal bone. ,校对中... +HP:0010046,Aplasia of the 5th metacarpal ,第五掌骨发育不全,Absence of the fifth long bone of the hand. ,校对中... +HP:0010047,Short 5th metacarpal ,第五掌骨短小,Short fifth metacarpal bone. ,校对中... +HP:0010048,Aplasia of metacarpal bones ,掌骨不发育,Developmental defect associated with absence of one or more metacarpal bones. ,校对中... +HP:0010049,Short metacarpal ,掌骨短,Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal. ,校对中... +HP:0010051,Deviation of the hallux ,拇趾偏斜,Displacement of the big toe from its normal position. ,校对中... +HP:0010054,Abnormality of the first metatarsal bone ,第一跖骨异常,An anomaly of the first metatarsal bone. ,校对中... +HP:0010055,Broad hallux ,拇趾变宽,Visible increase in width of the hallux without an increase in the dorso-ventral dimension. ,校对中... +HP:0010058,Aplasia/Hypoplasia of the phalanges of the hallux ,拇趾骨发育不良或发育不全, , +HP:0010059,Broad hallux phalanx ,拇趾骨变宽,An increase in width in one or more phalanges of the big toe. ,校对中... +HP:0010064,Symphalangism affecting the phalanges of the hallux ,拇趾趾关节融合, , +HP:0010066,Duplication of phalanx of hallux ,拇趾骨重复,Partial or complete duplication of one or more phalanx of big toe. ,校对中... +HP:0010067,Aplasia/hypoplasia of the 1st metatarsal ,第一跖骨发育不良或发育不全,Absence or underdevelopment of the first metatarsal bone. ,校对中... +HP:0010068,Broad first metatarsal ,第一跖骨粗大,Increased side-to-side width of the first metatarsal bone. ,校对中... +HP:0010076,Aplasia/Hypoplasia of the distal phalanx of the hallux ,拇趾末节趾骨发育不良或发育不全, , +HP:0010077,Broad distal phalanx of the hallux ,拇趾远节趾骨变宽,An increase in width of the distal phalanx of the big toe. ,校对中... +HP:0010078,Bullet-shaped distal phalanx of the hallux ,拇趾子弹形末节趾骨,"An abnormal morphology of the distal phalanx of the big toe, with a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. ",校对中... +HP:0010093,Duplication of the proximal phalanx of the hallux ,拇趾近节趾骨重复,Partial or complete duplication of the proximal phalanx of big toe. ,校对中... +HP:0010097,Partial duplication of the distal phalanx of the hallux ,拇趾末节指骨部分重复, , +HP:0010100,Complete duplication of hallux phalanx ,拇趾趾骨完全重复,Complete duplication of one or more phalanx of big toe. ,校对中... +HP:0010102,Aplasia of the distal phalanx of the hallux ,拇趾末节趾骨发育不全, , +HP:0010104,Absent first metatarsal ,第一跖骨缺如,A developmental defect characterized by the absence of the first metatarsal bone. ,校对中... +HP:0010105,Short first metatarsal ,第一跖骨短,Short first metatarsal bone. ,校对中... +HP:0010107,Short proximal phalanx of hallux ,拇趾近节指骨短,Underdevelopment (hypoplasia) of the proximal phalanx of big toe. ,校对中... +HP:0010109,Short hallux ,短拇趾,Underdevelopment (hypoplasia) of the big toe. ,校对中... +HP:0010112,Mesoaxial foot polydactyly ,足中轴型多趾,The presence of a supernumerary toe (not a hallux) involving the third or fourth metatarsal with associated osseous syndactyly. ,校对中... +HP:0010168,Ivory epiphyses of the toes ,趾骨象牙色骨骺, , +HP:0010171,Epiphyseal stippling of toe phalanges ,趾骨骨骺点状钙化,"The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the toes. ",校对中... +HP:0010173,Aplasia/Hypoplasia of the phalanges of the toes ,趾骨发育不良或发育不全, , +HP:0010174,Broad phalanx of the toes ,趾骨粗大,Increased width of phalanx of one or more toes. ,校对中... +HP:0010176,Curved toe phalanx ,趾骨弯曲,A deviation from the normal straight form of one or more toe phalanges. ,校对中... +HP:0010185,Aplasia/Hypoplasia of the distal phalanges of the toes ,末节趾骨发育不良/发育不全,Absence or underdevelopment of the distal phalanges of the toes. ,校对中... +HP:0010186,Broad distal phalanx of the toes ,末节趾骨变宽,Increased width of the distal phalanx of toe of one or more toes. ,校对中... +HP:0010194,Aplasia/Hypoplasia of the middle phalanges of the toes ,中节趾骨发育不全或发育不良, , +HP:0010219,Structural foot deformity ,足结构性畸形,A foot deformity resulting due to an abnormality affecting the bones of the foot (as well as muscle and soft tissue). In contrast if only the muscle and soft tissue are affected the term positional foot deformity applies. ,校对中... +HP:0010228,Absent epiphyses of the phalanges of the hand ,指骨骨骺缺如,Absence of one or more epiphyses of the phalanges of the fingers. ,校对中... +HP:0010230,Cone-shaped epiphyses of the phalanges of the hand ,指骨锥形骨骺,"A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx. ",校对中... +HP:0010231,Enlarged epiphyses of the phalanges of the hand ,指骨骨骺膨大,Abnormally large size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. ,校对中... +HP:0010234,Ivory epiphyses of the phalanges of the hand ,指骨象牙色骨骺,"Sclerosis of the epiphyses of the phalanges of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. ",校对中... +HP:0010236,Small epiphyses of the phalanges of the hand ,指骨小骨骺,Abnormally small size of the epiphyses of the phalanges of the fingers with respect to age-dependent norms. ,校对中... +HP:0010239,Aplasia of the middle phalanx of the hand ,中节指骨发育不全,Absence of one or more middle phalanx of a finger. ,校对中... +HP:0010241,Short proximal phalanx of finger ,近节指骨短小,Congenital hypoplasia of one or more proximal phalanx of finger. ,校对中... +HP:0010242,Aplasia of the proximal phalanges of the hand ,近节指骨发育不全, , +HP:0010248,Cone-shaped epiphyses of the distal phalanges of the hand ,末节指骨的锥形骨骺, , +HP:0010252,Ivory epiphyses of the distal phalanges of the hand ,末节指骨象牙色骨骺,Distal epiphyses of the hand are hard and dense like ivory. Such an epiphysis has a uniformly dense appearance on radiographs. ,校对中... +HP:0010255,Stippling of the epiphyses of the distal phalanges of the hand ,末节指骨骨骺点状钙化, , +HP:0010259,Cone-shaped epiphyses of the middle phalanges of the hand ,中节指骨锥形骨骺, , +HP:0010264,Pseudoepiphyses of the middle phalanges of the hand ,中节指骨假骨骺,A secondary ossification center in the middle phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. ,校对中... +HP:0010270,Cone-shaped epiphyses of the proximal phalanges of the hand ,近节指骨锥形骨骺, , +HP:0010275,Pseudoepiphyses of the proximal phalanges of the hand ,近节指骨假骨骺,A secondary ossification center in the proximal phalanges of the hand that is distinct from the normal epiphysis that does not contribute to the longitudinal growth of a tubular bone. ,校对中... +HP:0010280,Stomatitis ,口腔炎,Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth. ,校对中... +HP:0010282,Thin lower lip vermilion ,上红唇薄,"Height of the vermilion of the medial part of the lower lip more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the lower lip in the frontal view (subjective). ",校对中... +HP:0010284,Intra-oral hyperpigmentation ,口内色素沉着,"Increased pigmentation, either focal or generalized, of the mucosa of the mouth. ",校对中... +HP:0010285,Oral synechia ,口腔粘连,Fibrous band between the mucosal surfaces of the upper and lower alveolar ridges. ,校对中... +HP:0010286,Abnormal salivary gland morphology ,唾液腺形态异常,"Any abnormality of the salivary glands, the exocrine glands that produce saliva. ",校对中... +HP:0010289,Cleft of alveolar ridge of maxilla ,上颌牙槽嵴裂,"A gap (cleft) affecting one of the alveolar ridges, which are the protuberances in the mouth that contain the sockets (alveoli) of the teeth. An alveolar cleft can affect all structures of the alveolar ridge, including the gingiva, other mucosa, periosteum, alveolar bone, and teeth. ",校对中... +HP:0010290,Short hard palate ,短硬腭,Distance between the labial point of the incisive papilla to the midline junction of the hard and soft palate more than 2 SD below the mean (objective) or apparently decreased length of the hard palate (subjective). ,校对中... +HP:0010291,Prominent palatine ridges ,腭嵴突出,Increased size and/or number of soft tissue folds on the palatal side of the maxillary alveolar ridge. ,校对中... +HP:0010292,Absent uvula ,悬雍垂缺失,Lack of the uvula. ,校对中... +HP:0010293,Aplasia/Hypoplasia of the uvula ,悬雍垂发育不全／未发育,Underdevelopment or absence of the uvula. ,校对中... +HP:0010294,Palate fistula ,腭瘘,A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. ,校对中... +HP:0010295,Aplasia/Hypoplasia of the tongue ,舌未发育/舌发育不全,Absence or underdevelopment of the tongue. ,校对中... +HP:0010296,Ankyloglossia ,舌系带短缩,"Short or anteriorly attached lingual frenulum, associated with limited mobility of the tongue. ",校对中... +HP:0010297,Bifid tongue ,舌裂,Tongue with a median apical indentation or fork. ,校对中... +HP:0010298,Smooth tongue ,光舌,Glossy appearance of the entire tongue surface. ,校对中... +HP:0010299,Abnormal dentin morphology ,牙本质形态异常,Any abnormality of dentin. ,校对中... +HP:0010300,Abnormally low-pitched voice ,异常低声调,An abnormally low-pitched voice. ,校对中... +HP:0010301,Spinal dysraphism ,椎管闭合不全,A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life. ,校对中... +HP:0010302,Spinal cord tumor ,脊髓肿瘤,A neoplasm affecting the spinal cord. ,校对中... +HP:0010305,Absence of the sacrum ,骶骨缺如,Absence (aplasia) of the sacrum. ,校对中... +HP:0010306,Short thorax ,胸部短小,Reduced inferior to superior extent of the thorax. ,校对中... +HP:0010307,Stridor ,喘鸣,Stridor is a high pitched sound resulting from turbulent air flow in the upper airway. ,校对中... +HP:0010309,Bifid sternum ,胸骨裂,The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum. ,校对中... +HP:0010310,Chylothorax ,乳糜胸,Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity. ,校对中... +HP:0010311,Aplasia/Hypoplasia of the breasts ,乳房发育不全/不良,Absence or underdevelopment of the breasts. ,校对中... +HP:0010314,Premature thelarche ,乳房早熟,Premature development of the breasts. ,校对中... +HP:0010315,Aplasia/Hypoplasia of the diaphragm ,横膈发育不全/发育不良,Absence or underdevelopment of the diaphragm. ,校对中... +HP:0010316,Ebstein anomaly of the tricuspid valve ,三尖瓣Ebstein畸形,"Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. ",校对中... +HP:0010318,Aplasia/Hypoplasia of the abdominal wall musculature ,腹壁肌群发育不良/发育不全,Absence or underdevelopment of the abdominal musculature. ,校对中... +HP:0010322,Abnormality of the 5th toe ,第五趾异常,An anomaly of the little toe. ,校对中... +HP:0010327,Flexion contracture of the 2nd toe ,第二趾屈曲挛缩,One or more bent (flexed) joints of the second toe that cannot be straightened actively or passively. ,校对中... +HP:0010331,Aplasia/Hypoplasia of the 3rd toe ,第三趾趾骨发育不良/发育不全, , +HP:0010339,Flexion contracture of the 4th toe ,第四趾屈曲挛缩,One or more bent (flexed) joints of the fourth toe that cannot be straightened actively or passively. ,校对中... +HP:0010344,Deviation of the 5th toe ,第五趾偏斜, , +HP:0010347,Aplasia/Hypoplasia of the phalanges of the 2nd toe ,第二趾趾骨发育不良/发育不全, , +HP:0010432,Absent distal phalanx of the 2nd toe ,第二趾末节趾骨缺如,Absence of distal phalanx of the second toe as a result of developmental aplasia. ,校对中... +HP:0010441,Ectopic accessory finger-like appendage ,异位性手指样附属物,"In contrast to forms of polydactyly where the supernumerary digit (this can either be a rudimentary or a completely 'normal' digit) is either located postaxial (on the ulnar side of the hand, next to the little finger), preaxial (on the radial side of the hand, next to the thumb) or mesoaxial (somewhere central, between thumb and little finger), a supernumerary digit may also be placed ectopically, meaning anywhere else except post-,meso- or preaxial. In the literature this is sometimes referred to as Disorganisation-like Syndrome (OMIM223200). ",校对中... +HP:0010442,Polydactyly ,多指（趾）畸形,A congenital anomaly characterized by the presence of supernumerary fingers or toes. ,校对中... +HP:0010443,Bifid femur ,股骨骨裂,"A bifid or bifurcated appearance of the femur as seen on x-rays, possible appearing as a more or less severe bowing of the upper leg. Might be associated with hip dysplasia on the affected side. ",校对中... +HP:0010444,Pulmonary insufficiency ,肺动脉瓣关闭不全,The retrograde (backwards) flow of blood through the pulmonary valve into the right ventricle during diastole. ,校对中... +HP:0010445,Primum atrial septal defect ,原发孔型房间隔缺损,"An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum. ",校对中... +HP:0010446,Tricuspid stenosis ,三尖瓣狭窄,A narrowing of the orifice of the tricuspid valve of the heart. ,校对中... +HP:0010447,Anal fistula ,肛瘘,An abnormal connection between the epithelialised surface of the anal canal and the perianal skin. ,校对中... +HP:0010448,Colonic atresia ,结肠闭锁,"A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure, or atresia of the tubular structure of the colon. ",校对中... +HP:0010450,Esophageal stenosis ,食管狭窄,An abnormal narrowing of the lumen of the esophagus. ,校对中... +HP:0010452,Ectopia of the spleen ,脾异位,An abnormal (non-anatomic) location of the spleen. ,校对中... +HP:0010454,Acetabular spurs ,髋臼骨刺,"The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum. ",校对中... +HP:0010455,Steep acetabular roof ,陡峭的髋臼顶,An exaggeration of the normal arched form of the acetabular roof such that it takes on a steep appearance. ,校对中... +HP:0010458,Female pseudohermaphroditism ,女性假两性畸形,"Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In female pseudohermaphroditism, the genotype is female (XX) and the gonads are ovaries, but the external genitalia are virilized. ",校对中... +HP:0010459,True hermaphroditism ,真两性畸形,"The presence of both ovarian and testicular tissues either in the same or in opposite gonads. Affected persons have ambiguous genitalia and may have 46,XX or 46,XY karyotypes or 46,XX/XY mosaicism. ",校对中... +HP:0010461,Abnormality of the male genitalia ,男性生殖器异常,Abnormality of the male genital system. ,校对中... +HP:0010463,Aplasia of the ovary ,卵巢发育不全,"Aplasia, that is failure to develop, of the ovary. ",校对中... +HP:0010464,Streak ovary ,条索状卵巢,"A developmental disorder characterized by the progressive loss of primordial germ cells in the developing ovaries of an embryo, leading to hypoplastic ovaries composed of wavy connective tissue with occasional clumps of granulosa cells, and frequently mesonephric or hilar cells. ",校对中... +HP:0010465,Precocious puberty in females ,女性性早熟,The onset of puberty before the age of 8 years in girls. ,校对中... +HP:0010468,Aplasia/Hypoplasia of the testes ,睾丸发育不全/发育不良,Absence or underdevelopment of the testes. ,校对中... +HP:0010469,Absent testis ,睾丸缺如,Testis not palpable in the scrotum or inguinal canal. ,校对中... +HP:0010471,Oligosacchariduria ,寡糖尿症,"Increased urinary excretion of oligosaccharides (low molecular weight carbohydrate chains composed of at least three monosaccharide subunits), derived from a partial degradation of glycoproteins. ",校对中... +HP:0010472,Abnormal circulating porphyrin concentration ,血红素生物合成途径异常,"An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes. ",校对中... +HP:0010473,Porphyrinuria ,卟啉尿症,Abnormally increased excretion of porphyrins in the urine. ,校对中... +HP:0010476,Aplasia/Hypoplasia of the bladder ,膀胱发育不全/发育不良,Absence or underdevelopment of the urinary bladder. ,校对中... +HP:0010477,Aplasia of the bladder ,膀胱发育不全,Aplasia (absence) of the urinary bladder. ,校对中... +HP:0010479,Patent urachus ,脐尿管未闭,Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus. ,校对中... +HP:0010481,Urethral valve ,尿道瓣膜,The presence of an abnormal membrane obstructing the urethra. ,校对中... +HP:0010484,Hypertrophy of the upper limb ,上肢肥大,Abnormal increase in size of the upper limbs (due to an increase of the size of cells). ,校对中... +HP:0010485,Hyperextensibility at elbow ,肘关节过伸,The ability of the elbow joint to move beyond its normal range of motion. ,校对中... +HP:0010486,Abnormality of the hypothenar eminence ,小鱼际隆起异常,"An abnormality of the hypothenar eminence, i.e., of the muscles on the ulnar side of the palm of the hand (i.e., on the side of the little finger). ",校对中... +HP:0010487,Small hypothenar eminence ,小鱼际小,"Reduced muscle mass on the ulnar side of the palm, that is, reduction in size of the hypothenar eminence. ",校对中... +HP:0010489,Absent palmar crease ,手掌掌纹缺如,"The absence of the major creases of the palm (distal transverse crease, proximal transverse crease, or thenar crease). ",校对中... +HP:0010490,Abnormality of the palmar creases ,掌纹异常,An abnormality of the creases of the skin of palm of hand. ,校对中... +HP:0010491,Digital constriction ring ,指趾缩窄环,A narrow segment of significantly reduced circumference of a digit. ,校对中... +HP:0010493,Long metacarpals ,长掌骨,An abnormally increased length of the metacarpal bones. ,校对中... +HP:0010497,Sirenomelia ,美人鱼综合症（并腿畸形）,A developmental defect in which the legs are fused together. ,校对中... +HP:0010499,Patellar subluxation ,髌骨半脱位,"The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar subluxation refers to an unstable kneecap that does not slide centrally within its groove, i.e., a partial dislocation of the patella. ",校对中... +HP:0010500,Hyperextensibility of the knee ,膝关节过伸,The ability of the knee joint to extend beyond its normal range of motion (the lower leg is moved beyond a straight position with respect to the thigh). ,校对中... +HP:0010501,Limitation of knee mobility ,膝关节活动受限,An abnormal limitation of knee joint mobility. ,校对中... +HP:0010502,Fibular bowing ,腓骨弯曲,A bending or abnormal curvature of the fibula. ,校对中... +HP:0010503,Fibular duplication ,腓骨重复,Duplication of the fibula. This may occur as a part of diplopodia (accessory tarsal or metatarsal bone). Diplopodia with double fibula is an extremely rare condition. ,校对中... +HP:0010505,Limitation of movement at ankles ,踝关节运动受限,An abnormal limitation of the mobility of the ankle joint. ,校对中... +HP:0010508,Metatarsus valgus ,跖骨外翻,A condition in which the anterior part of the foot rotates outward away from the midline of the body and the heel remains straight. ,校对中... +HP:0010509,Aplasia of the tarsal bones ,跗骨发育不全,Absence of the tarsal bones. ,校对中... +HP:0010510,Hypermobility of toe joints ,趾关节活动过度,An ability of the toe joints to move beyond their normal range of motion. ,校对中... +HP:0010511,Long toe ,长脚趾,Toes that appear disproportionately long compared to the foot. ,校对中... +HP:0010512,Adrenal calcification ,肾上腺钙化,Calcification within the adrenal glands. ,校对中... +HP:0010515,Aplasia/Hypoplasia of the thymus ,胸腺未发育/发育不全,Absence or underdevelopment of the thymus. ,校对中... +HP:0010516,Thymus hyperplasia ,胸腺增生,Enlargement of the thymus. ,校对中... +HP:0010517,Ectopic thymus tissue ,异位胸腺组织,"The presence of ectopic thymus tissue. Normally, cells of the ventral bud of the third pharyngeal pouch detach and migrate in the eighth gestational week caudally and medially towards the location of the mature thyroid. They migrate further retrosternally into the superior mediastinum. There are two main ways ectopic thymus tissue can develop. Either cells detach along the descensus path and proliferate, thereby forming accessory thymus tissue, or the entire gland fails to descend. ",校对中... +HP:0010518,Thyroglossal cyst ,甲状舌管囊肿,An abnormality of the thyroid gland owing to the presence of a fibrous cyst resulting from the persistence of the thyroglossal duct. ,校对中... +HP:0010519,Increased fetal movement ,胎动增加,An abnormal increase in quantity or strength of fetal movements. ,校对中... +HP:0010521,Gait apraxia ,步态失用,Gait apraxia affecting the ability to make walking movements with the legs. ,校对中... +HP:0010522,Dyslexia ,失读症,A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent). ,校对中... +HP:0010523,Alexia ,失读症,An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read. ,校对中... +HP:0010524,Agnosia ,失认,"Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions. ",校对中... +HP:0010525,Finger agnosia ,手���失认,An inability or difficulty differentiating among the fingers of either hand as well as the hands of others. ,校对中... +HP:0010526,Dysgraphia ,书写困难,"A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment. ",校对中... +HP:0010527,Astereognosia ,实体觉缺失,"Inability to recognize the form of objects by touch without visual input. That is, an impairment in the recognition of objects based only on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit. ",校对中... +HP:0010529,Echolalia ,模仿性言语,The tendency to repeat vocalizations made by another person. ,校对中... +HP:0010530,Palatal myoclonus ,腭肌阵挛,Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate. ,校对中... +HP:0010531,Spinal myoclonus ,脊髓性肌阵挛,"Spinal myoclonus is generally due to a tumor, infection, injury, or degenerative process of the spinal cord, and is characterized by involuntary rhythmic muscle contractions, usually at a rate of more than one per second. Myoclonus occurs synchronously in several muscles and can be increased in severity and frequency by fatigue or stress, but is usually unaffected by sensory stimuli. Spinal myoclonus ceases during sleep or anesthesia. ",校对中... +HP:0010532,Paroxysmal vertigo ,发作性眩晕,Paroxysmal episodes of vertigo. ,校对中... +HP:0010533,Spasmus nutans ,点头状痉挛,"The combination of pendular nystagmus, head nodding, and torticollis. ",校对中... +HP:0010534,Transient global amnesia ,短暂性全面性遗忘症,"A paroxysmal, transient loss of memory function with preservation of immediate recall and remote memory but with a severe impairment of memory for recent events and ability to retain new information. ",校对中... +HP:0010535,Sleep apnea ,睡眠呼吸暂停,"An intermittent cessation of airflow at the mouth and nose during sleep. Apneas of at least 10 seconds are considered important, but persons with sleep apnea may have apneas of 20 seconds to up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep. ",校对中... +HP:0010536,Central sleep apnea ,中枢性睡眠呼吸暂停,Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles. ,校对中... +HP:0010537,Wide cranial sutures ,颅缝增宽,An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure). ,校对中... +HP:0010538,Small sella turcica ,小蝶鞍,An abnormally small sella turcica. ,校对中... +HP:0010539,Thin calvarium ,颅骨薄,The presence of an abnormally thin calvarium. ,校对中... +HP:0010541,Cutis gyrata of scalp ,头皮回状纹,"The presence of convoluted folds and furrows formed from thickened skin of the scalp, resembling cerebriform pattern. The scalp has convoluted and elevated folds, 1 to 2 cm in thickness. The convolutions generally cannot be flattened by traction. ",校对中... +HP:0010542,Vestibular nystagmus ,前庭性眼震,"Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components. ",校对中... +HP:0010543,Opsoclonus ,斜视眼阵挛,Bursts of large-amplitude multidirectional saccades without intersaccadic interval ,校对中... +HP:0010544,Vertical nystagmus ,垂直眼球震颤,Vertical nystagmus may present with either up-beating or down-beating eye movements or both. When present in the straight-ahead position of gaze it is referred to as upbeat nystagmus or downbeat nystagmus. ,校对中... +HP:0010545,Downbeat nystagmus ,下击型眼球震颤,Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. ,校对中... +HP:0010546,Muscle fibrillation ,肌纤维颤动,"Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG. ",校对中... +HP:0010547,Muscle flaccidity ,肌无力,"A type of paralysis in which a muscle becomes soft and yields to passive stretching, which results from loss of all or practically all peripheral motor nerves that innervated the muscle. Muscle tone is reduced and the affected muscles undergo extreme atrophy within months of the loss of innervation. ",校对中... +HP:0010548,Percussion myotonia ,敲击性肌强直,"A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). ",校对中... +HP:0010550,Paraplegia ,截瘫,Severe or complete weakness of both lower extremities with sparing of the upper extremities. ,校对中... +HP:0010551,Paraplegia/paraparesis ,截瘫,"Weakness of both lower extremities with sparing of the upper extremities. Paraplegia refers to a severe or complete loss of strength, whereas paraparesis refers to a relatively mild loss of strength. ",校对中... +HP:0010553,Oculogyric crisis ,动眼神经危象,"An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications. ",校对中... +HP:0010554,Cutaneous finger syndactyly ,手指皮肤性并指,"A soft tissue continuity in the A/P axis between two fingers that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two fingers that lies significantly distal to the flexion crease that overlies the metacarpophalangeal joint of the adjacent fingers. ",校对中... +HP:0010557,Overlapping fingers ,指交叠,A finger resting on the dorsal surface of an adjacent digit when the hand is at rest. ,校对中... +HP:0010558,Abnormality of the clivus ,斜坡异常,"An abnormality of the clivus, which is the inclined bony region of the posterior cranial fossa located between the sella turcica and the foramen magnum. ",校对中... +HP:0010559,Vertical clivus ,斜坡垂直,An abnormal vertical orientation of the clivus (which normally forms a kind of slope from the sella turcica down to the region of the foramen magnum). ,校对中... +HP:0010560,Undulate clavicles ,波浪状锁骨,An abnormally wavy surface or edge of the clavicles. ,校对中... +HP:0010561,Undulate ribs ,波浪状肋骨,An abnormally wavy surface or edge of the ribs. ,校对中... +HP:0010562,Keloids ,瘢痕疙瘩, , +HP:0010564,Bifid epiglottis ,会厌分叉,A midline anterior-posterior cleft of the epiglottis that involves at least two-thirds of the epiglottic leaf. It is a useful feature for clinical diagnosis because it appears to be very rare in syndromes other than Pallister-Hall-Syndrome and is also rare as an isolated malformation. ,校对中... +HP:0010566,Hamartoma ,错构瘤,"A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. ",校对中... +HP:0010569,Elevated 7-dehydrocholesterol ,7-脱氢胆固醇水平升高,Elevated 7-dehydrocholesterol levels. ,校对中... +HP:0010571,Elevated levels of phytanic acid ,植烷酸水平升高,An abnormal elevation of phytanic acid. ,校对中... +HP:0010574,Abnormality of the epiphysis of the femoral head ,股骨头骨骺异常,Any abnormality of the proximal epiphysis of the femur. ,校对中... +HP:0010575,Dysplasia of the femoral head ,股骨头发育不良,The presence of developmental dysplasia of the femoral head. ,校对中... +HP:0010576,Intracranial cystic lesion ,颅内囊性病变,A cystic lesion originating within the brain. ,校对中... +HP:0010577,Absent epiphyses ,骨骺缺如, , +HP:0010579,Cone-shaped epiphysis ,锥形骨骺,"Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. ",校对中... +HP:0010580,Enlarged epiphyses ,骨骺膨大,Increased size of epiphyses. ,校对中... +HP:0010582,Irregular epiphyses ,不规则骨骺,An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance. ,校对中... +HP:0010583,Ivory epiphyses ,象牙化骨骺,"Sclerosis of the epiphyses, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays. ",校对中... +HP:0010584,Pseudoepiphyses ,假骨骺, , +HP:0010585,Small epiphyses ,小骨骺,Reduction in the size or volume of epiphyses. ,校对中... +HP:0010602,Type 2 muscle fiber predominance ,2型肌纤维占优势,"An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy). ",校对中... +HP:0010603,Odontogenic keratocysts of the jaw ,颌骨牙源性角化囊肿,"A benign uni- or multicystic, intraosseous tumor of odontogenic origin, with a characteristic lining of parakeratinized stratified squamous epithelium and potential for aggressive, infiltrative behaviour. ",校对中... +HP:0010609,Skin tags ,皮赘,"Cutaneous skin tags also known as acrochorda or fibroepithelial polyps are small benign tumours that may either form secondarily over time primarily in areas where the skin forms creases, such as the neck, armpit or groin or may also be present at birth, in which case they usually occur in the periauricular region. ",校对中... +HP:0010610,Palmar pits ,手掌点状隐窝, , +HP:0010612,Plantar pits ,跖部隐窝,"The presence of multiple pits (small, pinpoint-large indentations on the surface of the skin) located on the skin of sole of foot. ",校对中... +HP:0010614,Fibroma ,纤维瘤,"Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term ""fibroblastic"" or ""fibromatous"" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors. ",校对中... +HP:0010615,Angiofibromas ,血管纤维瘤,Angiofibroma consist of many often dilated vessels. ,校对中... +HP:0010617,Cardiac fibroma ,心脏纤维瘤,A fibroma of the heart. ,校对中... +HP:0010618,Ovarian fibroma ,卵巢纤维瘤,The presence of a fibroma of the ovary. ,校对中... +HP:0010619,Fibroadenoma of the breast ,乳腺纤维腺瘤,A benign biphasic tumor of the breast with epithelial and stromal components. ,校对中... +HP:0010620,Malar prominence ,颧骨突出,Prominence of the malar process of the maxilla and infraorbital area appreciated in profile and from in front of the face. ,校对中... +HP:0010621,Cutaneous syndactyly of toes ,脚趾皮肤性并趾,"A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria. ",校对中... +HP:0010622,Neoplasm of the skeletal system ,骨骼系统肿瘤,A tumor (abnormal growth of tissue) of the skeleton. ,校对中... +HP:0010624,Aplastic/hypoplastic toenail ,趾甲发育缺陷/不全,Absence or underdevelopment of the toenail. ,校对中... +HP:0010626,Anterior pituitary agenesis ,垂体前叶缺失,Absence of the anterior pituitary gland resulting from a developmental defect. ,校对中... +HP:0010627,Anterior pituitary hypoplasia ,垂体前叶发育不全,Underdevelopment of the anterior pituitary gland. ,校对中... +HP:0010628,Facial palsy ,面部神经麻痹,Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form. ,校对中... +HP:0010631,Abnormality of the epiphyses of the feet ,足骨骺异常,Any abnormality of the epiphyses of the feet. ,校对中... +HP:0010636,Schizencephaly ,脑裂畸形,"The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area. ",校对中... +HP:0010638,Elevated alkaline phosphatase of hepatic origin ,肝源性碱性磷酸酶升高,"An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. ",校对中... +HP:0010639,Elevated alkaline phosphatase of bone origin ,骨源性碱性磷酸酶升高,"An abnormally increased level of bone isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood. ",校对中... +HP:0010640,Abnormality of the nasal cavity ,鼻腔异常,"Abnormality of the nasal cavity (the cavity includes and starts at the nares and reaches all the way through to the and includes the choanae, the posterior nasal apertures). ",校对中... +HP:0010644,Midnasal stenosis ,中鼻道狭窄,"Abnormal narrowing (stenosis) of the midnasal cavity, i.e., of the middle nasal meatus, which in neonates can cause respiratory distress. ",校对中... +HP:0010646,Cervical spine instability ,颈椎不稳,An abnormal lack of stability of the cervical spine. ,校对中... +HP:0010647,Abnormal elasticity of skin ,皮肤弹性异常,Any abnormal increase or reduction in skin elasticity. ,校对中... +HP:0010648,Dermal translucency ,半透明状皮肤,An abnormally increased ability of the skin to permit light to pass through (translucency) such that subcutaneous structures such as veins display an increased degree of visibility. ,校对中... +HP:0010649,Flat nasal alae ,鼻翼扁平,"An abnormal degree of flatness of the Ala of nose, which can be defined as a reduced nasal elevation index (lateral depth of the nose from the tip of the nose to the insertion of the nasal ala in the cheek x 100 divided by the side-to-side breadth of the nasal alae). ",校对中... +HP:0010650,Hypoplasia of the premaxilla ,前颌骨发育不良,An abnormality of the premaxilla (the embryonic structure that forms the anterior part of the maxilla) causing it to appear relatively small in size compared to the other parts of the maxilla or other facial structures. ,校对中... +HP:0010652,Abnormal dura mater morphology ,硬膜形态异常,An abnormality of the Dura mater. ,校对中... +HP:0010654,Aplasia of the falx cerebri ,大脑镰发育缺陷,A developmental defect characterized by aplasia of the Falx cerebri. ,校对中... +HP:0010655,Epiphyseal stippling ,骨骺点状钙化,"The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. ",校对中... +HP:0010656,Abnormal epiphyseal ossification ,骨骺骨化异常,An abnormality of the formation and mineralization of an epiphysis. ,校对中... +HP:0010659,Patchy variation in bone mineral density ,骨密度斑片状变化,Patchy (irregular) changes in bone mineral density with patches of bone showing an increased density side to side with patches that are affected by reduction of mineral density. This is sometimes referred to as a moth-eaten appearance on x-rays. ,校对中... +HP:0010660,Abnormal hand bone ossification ,手骨骨化异常,An abnormality of the formation and mineralization of any bone of the skeleton of hand. ,校对中... +HP:0010662,Abnormality of the diencephalon ,间脑异常,"An abnormality of the Diencephalon, which together with the cerebrum (telencephalon) makes up the forebrain. ",校对中... +HP:0010663,Abnormality of thalamus morphology ,丘脑形态异常,An abnormality of the thalamus. ,校对中... +HP:0010664,Fusion of the left and right thalami ,左右丘脑融合,A developmental defect characterized by fusion of the left and right halves of the thalamus. ,校对中... +HP:0010665,Bilateral coxa valga ,双侧髋外翻,The presence of bilateral coxa valga. ,校对中... +HP:0010666,Hypoplasia of the anterior nasal spine ,前鼻棘发育不良,Underdevelopment of the anterior nasal spine of maxilla. ,校对中... +HP:0010667,Aplasia of the maxilla ,上颌骨发育不全,A congenital defect characterized by absence of the Maxilla. ,校对中... +HP:0010669,Hypoplasia of the zygomatic bone ,颧骨发育不良,"Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch. ",校对中... +HP:0010674,Abnormality of the curvature of the vertebral column ,脊柱曲度异常,The presence of an abnormal curvature of the vertebral column. ,校对中... +HP:0010675,Abnormal foot bone ossification ,足骨骨化异常,An abnormality of the formation and mineralization of any bone of the skeleton of foot. ,校对中... +HP:0010677,Enuresis nocturna ,遗尿症,Enuresis occurring during sleeping hours. ,校对中... +HP:0010679,Elevated tissue non-specific alkaline phosphatase ,组织非特异性碱性磷酸酶升高,"An abnormally increased level of alkaline phosphatase, tissue-nonspecific isozyme in the blood. ",校对中... +HP:0010689,Mirror image polydactyly ,镜像多指（趾）,"A hand or foot with more than five digits that has a recognizable A/P axis of symmetry. The axis can lie within a normally formed or partially duplicated digit resembling a middle finger, index finger, thumb, toe, or hallux. Alternatively, the axis can be in an interdigital space with a flanking pair of digits that resemble a middle finger, index finger, thumb, toe or hallux. The most lateral digits on each side of the hand typically resemble fifth fingers/toes. ",校对中... +HP:0010691,Mirror image foot polydactyly ,镜像多趾,Mirror image duplication of digits affecting the feet. ,校对中... +HP:0010692,2-5 finger syndactyly ,第二-五指并指,Syndactyly with fusion of fingers two to five. ,校对中... +HP:0010693,Pulverulent cataract ,粉状白内障,A kind of congenital cataract that is characterized by a hollow sphere of punctate opacities involving the fetal nucleus and that usually occurs bilaterally. ,校对中... +HP:0010695,Sutural cataract ,缝性白内障,A type of congenital cataract in which the opacity follows the anterior or posterior Y suture. ,校对中... +HP:0010696,Polar cataract ,极性白内障,A type of Congenital cataract in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens. ,校对中... +HP:0010698,Nuclear pulverulent cataract ,核性粉尘状白内障,A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus. ,校对中... +HP:0010701,Abnormal immunoglobulin level ,免疫球蛋白水平异常,An abnormal deviation from normal levels of immunoglobulins in blood. ,校对中... +HP:0010702,Increased circulating antibody level ,循环抗体水平升高,An increased level of gamma globulin (immunoglobulin) in the blood. ,校对中... +HP:0010705,4-5 finger syndactyly ,第四-五指并指,Syndactyly with fusion of fingers four and five. ,校对中... +HP:0010708,1-5 finger syndactyly ,第一-五指并指,Syndactyly with fusion of fingers one to five (complete syndactyly of all fingers of the hand). ,校对中... +HP:0010709,2-4 finger syndactyly ,第二-四指并指,Syndactyly with fusion of the fingers two to four. ,校对中... +HP:0010711,1-2 toe syndactyly ,第一、二脚趾并趾,Syndactyly with fusion of toes one and two. ,校对中... +HP:0010713,1-5 toe syndactyly ,第一至第五脚趾并趾,Syndactyly with fusion of toes one to five (complete syndactyly of all toes of the foot). ,校对中... +HP:0010714,2-4 toe syndactyly ,第二至第四脚趾并趾,Syndactyly with fusion of toes two to four. ,校对中... +HP:0010719,Abnormality of hair texture ,发质异常,An abnormality of the texture of the hair. ,校对中... +HP:0010720,Abnormal hair pattern ,毛发分布异常,An abnormality of the distribution of hair growth. ,校对中... +HP:0010721,Abnormal hair whorl ,毛发异常旋涡式生长,"An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair). ",校对中... +HP:0010722,Asymmetry of the ears ,耳朵不对称,"An asymmetriy, i.e., difference in size, shape or position between the left and right ear. ",校对中... +HP:0010723,Cystic lesions of the pinnae ,耳廓囊性病变, , +HP:0010724,Advanced pneumatization of the mastoid process ,乳突过度气化,"An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the mastoid process with respect to age-dependent norms. ",校对中... +HP:0010726,Prominent corneal nerve fibers ,角膜神经纤维突出,Abnormal prominence of the corneal nerve fibers. ,校对中... +HP:0010729,Cherry red spot of the macula ,黄斑樱桃红斑,Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparancy of the macula. ,校对中... +HP:0010732,Nodular changes affecting the eyelids ,眼睑的结节样改变,"Nodular changes affecting the eyelids may have many different causes such as cystic lesions (chalaziae, hordeolae), lipogranulomas, melanomas, infectious diseases (Molluscum contagiosum) and many more. ",校对中... +HP:0010733,Naevus flammeus of the eyelid ,眼睑鲜红斑痣,Naevus flammeus localised in the skin of the eyelid. ,校对中... +HP:0010734,Fibrous dysplasia of the bones ,骨纤维发育不良,"Tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone or bones may be involved. Fibrous dysplasia can either effect isolated bones (Monostotic fibrous dysplasia) or also generalized all bones of the body (Polyostotic fibrous dysplasia). ",校对中... +HP:0010735,Polyostotic fibrous dysplasia ,多骨性骨纤维发育不良,Fibrous dysplasia of the bones were lesions are localized in many bones throughout of the body. Polyostotic fibrous dysplasia is a cardinal feature of McCune-Albright syndrome. ,校对中... +HP:0010736,Monostotic fibrous dysplasia ,单骨性骨纤维发育不良,Fibrous dysplasia of the bones were lesions are localized in only one bone. ,校对中... +HP:0010739,Osteopoikilosis ,骨斑点症,"Osteopoikilosis is a benign, asymptomatic sclerotic dysplasia of the bones. It affects both male and female and may be seen at any age. Radiographically sclerotic circular or ovoid lesions are usually symmetrically distributed in a periarticular location. Lesions can increase or decrease in size and number in serial radiographs or even disappear and do not have increased bone radiotracer uptake. ",校对中... +HP:0010740,Osteopathia striata ,纹状骨病,A lamellar pattern visible on radiographs and mainly localized at the metaphyses of the long tubular bones. Pathologic-anatomical studies revealed that these benign signs on x-rays are the result of a juvenile metaphyseal bone necrosis. Calcifications in the necrotic marrow lead to this lamellar or lattice-like appearance. ,校对中... +HP:0010741,Pedal edema ,下肢水肿,An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg. ,校对中... +HP:0010743,Short metatarsal ,短跖骨,"Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe. ",校对中... +HP:0010744,Absent metatarsal bone ,跖骨缺失,A developmental abnormality characterized by the absence (aplasia) of a metatarsal bone. ,校对中... +HP:0010746,Hypoplasia of the phalanges of the toes ,趾骨发育不良, , +HP:0010747,Medial flaring of the eyebrow ,眉中部发散扩展,An abnormal distribution of eyebrow hair growth in the medial direction. ,校对中... +HP:0010748,Ectopic lacrimal punctum ,泪点异位,Positioning of a lacrimal punctum other than at the medial margins of the eyelid. ,校对中... +HP:0010749,Blepharochalasis ,眼皮松弛,"Blepharochalasis is characterized by recurrent, non-painful, nonerythematous episodes of eyelid edema. It has been divided into hypertrophic and atrophic forms. In the hypertrophic form recurrent edema results in orbital fat herniation through a weakened orbital septum. Most patients who have blepharochalasis present in an atrophic condition with atrophy of redundant eyelid skin and superior nasal fat pads. ",校对中... +HP:0010750,Dermatochalasis ,眼皮松弛,Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge. ,校对中... +HP:0010751,Dimple chin ,下巴浅凹,A persistent midline depression of the skin over the fat pad of the chin. ,校对中... +HP:0010752,Cleft mandible ,下颌骨裂,Midline deficiency of the mandible and some or all overlying tissues. ,校对中... +HP:0010754,Abnormality of the temporomandibular joint ,颞下颌关节异常,An anomaly of the temporomandibular joint. ,校对中... +HP:0010759,Prominence of the premaxilla ,前颌骨突出,"Prominent positioning of the premaxilla in relation to the rest of the maxilla, the facial skeleton, or mandible. Not necessarily caused by an increase in size (hypertrophy of) the premaxilla. ",校对中... +HP:0010760,Absent toe ,脚趾缺失,"Aplasia of a toe. That is, absence of all phalanges of a non-hallux digit of the foot and the associated soft tissues. ",校对中... +HP:0010761,Broad columella ,宽鼻小柱,Increased width of the columella. ,校对中... +HP:0010762,Chordoma ,脊索瘤,"A chordoma is a tumors that arises from embryonic remnants of the notochord along the length of the neuraxis. Chordomas generally occur in the sacrum, intracranially at the clivus, or along the spinal axis. ",校对中... +HP:0010763,Low insertion of columella ,鼻小柱低插入,Insertion of the posterior columella below the nasal base. ,校对中... +HP:0010764,Short eyelashes ,短睫,Decreased length of the eyelashes (subjective). ,校对中... +HP:0010765,Palmar hyperkeratosis ,掌部角化过度,Abnormal thickening of the skin localized to the palm of the hand. ,校对中... +HP:0010766,Ectopic calcification ,异位钙化,Deposition of calcium salts in a tissue or location in which calcification does not normally occur. ,校对中... +HP:0010767,Sacrococcygeal pilonidal abnormality ,骶尾部藏毛异常,"The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. ",校对中... +HP:0010769,Pilonidal sinus ,藏毛窦,A sinus in the coccygeal region (the region of the intergluteal cleft). A pilonidal sinus often contains hair and skin debris. ,校对中... +HP:0010772,Anomalous pulmonary venous return ,肺静脉回流异常,"A developmental defect characterized by abnormal connection of one or more pulmonary veins to the superior or inferior vena cava, the right atrium, or the coronary sinus, resulting in a left-to-right shunt of oxygenated blood. ",校对中... +HP:0010773,Partial anomalous pulmonary venous return ,部分肺静脉回流异常,A form of anomalous pulmonary venous return in which not all pulmonary veins drain abnormally. Partial anomalous pulmonary venous return frequently involves one or both of the veins from one lung. ,校对中... +HP:0010774,Cor triatriatum ,三房心,"The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name). ",校对中... +HP:0010775,Vascular ring ,血管环,A developmental defect of the aortic arch system in which the trachea and esophagus are completely encircled by connected segments of the aortic arch and its branches. This occurs if the normal process of regression and persistence of the bilateral embryonic aortic arches fails. ,校对中... +HP:0010780,Hyperacusis ,听觉过敏,Over-sensitivity to certain frequency ranges of sound. ,校对中... +HP:0010781,Skin dimple ,皮肤酒窝征,Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation. ,校对中... +HP:0010783,Erythema ,红斑,"Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. ",校对中... +HP:0010784,Uterine neoplasm ,子宫肿瘤,A tumor (abnormal growth of tissue) of the uterus. ,校对中... +HP:0010786,Urinary tract neoplasm ,泌尿系肿瘤,The presence of a neoplasm of the urinary system. ,校对中... +HP:0010788,Testicular neoplasm ,睾丸肿瘤,The presence of a neoplasm of the testis. ,校对中... +HP:0010789,Abnormality of the Leydig cells ,睾丸间质细胞异常, , +HP:0010790,Hyoplasia of the Leydig cells ,睾丸间质细胞发育不全,Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. ,校对中... +HP:0010791,Hyperplasia of the Leydig cells ,睾丸间质细胞增生,Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone. ,校对中... +HP:0010794,Impaired visuospatial constructive cognition ,视空间结构认知障碍,"Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities). ",校对中... +HP:0010795,Cerebellar glioma ,小脑胶质瘤,A glioma affecting the cerebellum. ,校对中... +HP:0010796,Brainstem glioma ,脑干胶质瘤,A glioma affecting the brainstem. ,校对中... +HP:0010797,Hemangioblastoma ,血管母细胞瘤,A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter. ,校对中... +HP:0010799,Pinealoma ,松果体瘤,A neoplasm of the pineal gland. ,校对中... +HP:0010800,Absent cupid's bow ,上唇五丘比特弓,Lack of paramedian peaks and median notch of the upper lip vermilion. ,校对中... +HP:0010801,Underdeveloped nasolabial fold ,鼻唇区发育不全,"Reduced bulkiness of the crease or fold of skin running from the lateral margin of the nose, where nasal base meets the skin of the face, to a point just lateral to the corner of the mouth (cheilion or commissure). ",校对中... +HP:0010803,Everted upper lip vermilion ,上唇唇红外翻,"Inner aspect of the upper lip vermilion (normally apposing the teeth) visible in a frontal view, i.e., the presence of an everted upper lip. ",校对中... +HP:0010804,Tented upper lip vermilion ,帐篷状上唇,Triangular appearance of the oral aperture with the apex in the midpoint of the upper vermilion and the lower vermilion forming the base. ,校对中... +HP:0010806,U-Shaped upper lip vermilion ,U型上红唇,Gentle upward curve of the upper lip vermilion such that the center is placed well superior to the commissures. ,校对中... +HP:0010807,Open bite ,开牙合,Visible space between the dental arches in occlusion. ,校对中... +HP:0010808,Protruding tongue ,舌头过长,Tongue extending beyond the alveolar ridges or teeth at rest. ,校对中... +HP:0010809,Broad uvula ,宽悬雍垂,Increased width of the uvula (subjective finding). ,校对中... +HP:0010810,Long uvula ,长悬雍垂,Increased length of the uvula. ,校对中... +HP:0010812,Short uvula ,悬雍垂短小,Decreased length of the uvula. ,校对中... +HP:0010814,Abnormal position of hair whorl ,发旋位置异常,Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. ,校对中... +HP:0010815,Nevus sebaceous ,皮脂腺痣,"A congenital, hairless plaque consisting of overgrown epidermis, sebaceous glands, hair follicles, apocrine glands and connective tissue. They are a variant of epidermal naevi. Sebaceous naevi most often appear on the scalp, but they may also arise on the face, neck or forehead. At birth, a sevaceous nevus typically appears as a solitary, smooth, yellow-orange hairless patch. Sebaceous naevi become more pronounced around adolescence, often appearing bumpy, warty or scaly. ",校对中... +HP:0010816,Epidermal nevus ,表皮痣,Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. ,校对中... +HP:0010817,Linear nevus sebaceous ,线状皮脂腺痣,"A type of nevus sebaceous with a linear form, raised borders and yellowish color. ",校对中... +HP:0010818,Generalized tonic seizure ,全面性强直发作,"A generalized tonic seizure is a type of generalized motor seizure characterised by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities. ",校对中... +HP:0010819,Atonic seizure ,失张力癫痫发作,"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature. ",校对中... +HP:0010821,Focal emotional seizure with laughing ,伴大笑的局灶情绪性发作,"Focal emotional seizure with laughing (gelastic) is characterized by bursts of laughter or giggling, usually without appropriate related emotion of happiness, and described as 'mirthless'. ",校对中... +HP:0010823,Ridged cranial sutures ,脊状颅缝,"An overlap of the bony plates of the skull in an infant, with or without early closure. ",校对中... +HP:0010825,Abnormality of the eleventh cranial nerve ,第十一对颅神经异常,Abnormality of the eleventh cranial nerve. ,校对中... +HP:0010826,Abnormality of the twelfth cranial nerve ,第十二对颅神经异常,Abnormality of the twelfth cranial nerve. ,校对中... +HP:0010827,Abnormality of the seventh cranial nerve ,第七对颅神经异常,Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. ,校对中... +HP:0010828,Hemifacial spasm ,偏侧面肌痉挛,Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions. ,校对中... +HP:0010829,Impaired temperature sensation ,温度觉障碍,A reduced ability to discriminate between different temperatures. ,校对中... +HP:0010830,Impaired tactile sensation ,触觉障碍,"A reduced sense of touch (tactile sensation). This is usually tested with a wisp of cotton or a fine camel's hair brush, by asking patients to say 'now' each time they feel the stimulus. ",校对中... +HP:0010831,Impaired proprioception ,本体感觉障碍,A loss or impairment of the sensation of the relative position of parts of the body and joint position. ,校对中... +HP:0010832,Abnormality of pain sensation ,痛觉异常,"Pain is an unpleasant sensation that can range from mild, localized discomfort to agony, whereby the physical part of pain results from nerve stimulation and is often accompanied by an emotional component. This term groups abnormalities in pain sensation presumed to result from abnormalities related to the specific nerve fibers that carry the pain impulses to the brain. ",校对中... +HP:0010833,Spontaneous pain sensation ,自发性疼痛感,Spontaneous pain is a kind of neuropathic pain which occurs without an identifiable trigger. ,校对中... +HP:0010834,Trophic changes related to pain ,与疼痛相关的营养改变,"Trophic changes is a term used to describe abnormalities in the area of pain that include primarily wasting away of the skin, tissues, or muscle, thinning of the bones, and changes in how the hair or nails grow, including thickening or thinning of hair or brittle nails. ",校对中... +HP:0010835,Dissociated sensory loss ,分离性感觉缺失,"A pattern of sensory loss with selective loss of touch sensation and proprioception without loss of pain and temperature, or vice-versa. ",校对中... +HP:0010836,Abnormal circulating copper concentration ,铜稳态平衡异常,An abnormal concentration of copper. ,校对中... +HP:0010837,Decreased circulating ceruloplasmin concentration ,血清铜蓝蛋白降低,Decreased concentration of ceruloplasmin in the blood. ,校对中... +HP:0010838,High nonceruloplasmin-bound serum copper ,高浓度非铜蓝蛋白结合型血清铜离子,An increased concentration of non ceruloplasmin bound copper in the blood. ,校对中... +HP:0010841,Multifocal epileptiform discharges ,多灶性痫样放电,An abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci). ,校对中... +HP:0010844,EEG with multifocal slow activity ,脑电图，多灶性慢活动,Multifocal slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). ,校对中... +HP:0010845,EEG with generalized slow activity ,脑电图，广泛性慢活动,Diffuse slowing of cerebral electrical activity recorded along the scalp by electroencephalography (EEG). ,校对中... +HP:0010846,EEG with persistent abnormal rhythmic activity ,脑电图，异常的持续性节律活动, , +HP:0010848,EEG with spike-wave complexes (2.5-3.5 Hz) ,脑电图，棘慢复合波（2.5-3.5赫兹）,The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG). ,校对中... +HP:0010849,EEG with spike-wave complexes (>3.5 Hz) ,大于3.5赫兹棘慢复合波脑电图,The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG). ,校对中... +HP:0010850,EEG with spike-wave complexes ,脑电图，棘慢复合波,"Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). ",校对中... +HP:0010851,EEG with burst suppression ,EEG伴爆发抑制,"The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes. ",校对中... +HP:0010852,EEG with photoparoxysmal response ,脑电图，光阵发性反应,EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. ,校对中... +HP:0010853,EEG with periodic lateralized epileptiform discharges ,脑电图，周期性一侧癫痫样放电,"Periodic lateralized epileptiform discharges (PLEDs)are periodic, lateralized, and epileptiform. PLEDs show a relatively constant interval between discharges (0.5 to 3 seconds). ",校对中... +HP:0010862,Delayed fine motor development ,精细动作发育迟缓,A type of motor delay characterized by a delay in acquiring the ability to control the fingers and hands. ,校对中... +HP:0010863,Receptive language delay ,接受性语言发育迟缓,A delay in the acquisition of the ability to understand the speech of others. ,校对中... +HP:0010864,"Intellectual disability, severe ",重度智力残疾,Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34. ,校对中... +HP:0010865,Oppositional defiant disorder ,对立违抗性障碍,"An enduring pattern of uncooperative, defiant, and hostile behavior toward authority figures that does not involve major antisocial violations, is not accounted for by the child's developmental stage, and results in significant functional impairment. A certain level of oppositional behavior is common in children and adolescents. ",校对中... +HP:0010866,Abdominal wall defect ,腹壁缺损,An incomplete closure of the abdominal wall. ,校对中... +HP:0010867,Dyssynergia ,协同失调,"A type of ataxia characterized by the impairment of the ability to smoothly perform the elements of a voluntary movement in the appropriate order and speed. With dyssynergia, a voluntary movement appears broken down into its component parts. ",校对中... +HP:0010871,Sensory ataxia ,感觉性共济失调,"Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms. ",校对中... +HP:0010872,T-wave inversion ,T波倒置,An inversion of the T-wave (which is normally positive). ,校对中... +HP:0010873,Cervical spinal cord atrophy ,颈髓萎缩,Atrophy of the cervical segment of the spinal cord. ,校对中... +HP:0010874,Tendon xanthomatosis ,腱黄瘤病,"The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows). ",校对中... +HP:0010875,Chaddock reflex ,Chaddock 反射,"A diagnostic reflex elicited by stimulation of the skin over the surface of the lateral malleolus of the foot. The Chaddock refelx is present if there is extension of one or more or all of the toes with or without fanning of them when the external inframalleolar skin is stimulated. The Chaddock sign, similar to the Babinski sign, is taken to be an indication of disease of the spinocortical (pyramidal) tract. ",校对中... +HP:0010876,Abnormal circulating protein concentration ,血液蛋白水平异常,An abnormal level of a circulating protein in the blood. ,校对中... +HP:0010878,Fetal cystic hygroma ,胎儿囊状水瘤,"The presence during the prenatal period of a cystic mass with multiple septa with multiple, asymmetric, thin-walled cysts near the posterior aspect of the neck. Fetal cystic hygroma can be defined as nuchal translucency with or without septations measuring greater than 3.0 mm. ",校对中... +HP:0010880,Increased nuchal translucency ,颈部透明层厚度增加,The presence of an abnormally large hypoechoic space in the posterior fetal neck (usually detected on prenatal ultrasound examination). ,校对中... +HP:0010881,Abnormality of the umbilical cord ,脐带异常,"An abnormality of the umbilical cord, which is the cord connecting the developing embryo or fetus to the placenta. ",校对中... +HP:0010882,Pulmonary valve atresia ,肺动脉瓣闭锁,A congenital disorder of the pulmonary valve in which the orifice of the valve fails to develop. ,校对中... +HP:0010883,Aortic valve atresia ,主动脉瓣闭锁,A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. ,校对中... +HP:0010884,Acromelia ,肢端短缩,Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the other segments of the limbs. ,校对中... +HP:0010885,Avascular necrosis ,缺血性坏死,A disease where there is cellular death (necrosis) of bone components due to interruption of the blood supply. ,校对中... +HP:0010886,Osteochondritis Dissecans ,软骨下缺血性骨质吸收碎裂,"A joint disorder caused by blood deprivation in the subchondral bone causing the subchondral bone to die in a process called avascular necrosis. The bone is then reabsorbed by the body, leaving the articular cartilage it supported prone to damage. The result is fragmentation (dissection) of both cartilage and bone, and the free movement of these osteochondral fragments within the joint space, causing pain and further damage. ",校对中... +HP:0010891,Morbus Scheuermann ,_x0008_Scheuermann病,A developmental growth retardation of the vertebral end plates that may lead to secondary destruction of the vertebral end plates and protrusion of the nucleus pulposus into the vertebral body (so called Schmorl's nodes as seen on x-rays). ,校对中... +HP:0010892,Abnormal circulating branched chain amino acid concentration ,支链族氨基酸代谢异常,Any deviation from the normal concentration of a branched chain family amino acid in the blood circulation. ,校对中... +HP:0010895,Abnormal circulating glycine concentration ,甘氨酸代谢异常,Any deviation from the normal concentration of glycine in the blood circulation. ,校对中... +HP:0010896,Hypersarcosinemia ,高肌氨���血症,An elevated plasma concentration of sarcosine. ,校对中... +HP:0010897,Hypersarcosinuria ,高肌氨酸尿症,An elevated urinary concentration of sarcosine. ,校对中... +HP:0010900,Abnormal circulating threonine concentration ,苏氨酸代谢异常,Any deviation from the normal concentration of threonine in the blood circulation. ,校对中... +HP:0010903,Abnormal circulating glutamine concentration ,谷氨酰胺代谢异常,Any deviation from the normal concentration of glutamine in the blood circulation. ,校对中... +HP:0010904,Abnormal circulating histidine concentration ,组氨酸族氨基酸代谢异常,An abnormality of a histidine metabolic process. ,校对中... +HP:0010906,Hyperhistidinemia ,高组氨酸血症,An increased concentration of histidine in the blood. ,校对中... +HP:0010909,Abnormal circulating arginine concentration ,精氨酸代谢异常,Any deviation from the normal concentration of arginine in the blood circulation. ,校对中... +HP:0010910,Hypervalinemia ,高缬氨酸血症,An increased concentration of valine in the blood. ,校对中... +HP:0010911,Hyperleucinemia ,高亮氨酸血症,An increased concentration of leucine in the blood. ,校对中... +HP:0010913,Hyperisoleucinemia ,高异亮氨酸血症,An increased concentration of isoleucine in the blood. ,校对中... +HP:0010915,Abnormal circulating pyruvate family amino acid concentration ,丙酮酸族氨基酸代谢异常,An abnormality of a pyruvate family amino acid metabolic process. ,校对中... +HP:0010916,Abnormal circulating alanine concentration ,丙氨酸代谢异常,An abnormality of an alanine metabolic process. ,校对中... +HP:0010917,Abnormal circulating tyrosine concentration ,酪氨酸代谢异常,Any deviation from the normal concentration of tyrosine in the blood circulation. ,校对中... +HP:0010920,Zonular cataract ,带状白内障,Zonular cataracts are defined to be cataracts that affect specific regions of the lens. ,校对中... +HP:0010922,Membranous cataract ,膜性白内障,"A form of cataract in which the lens substance has shrunk, leaving a collapsed, flattened capsule with little or no cortex or epithelium on the lens. ",校对中... +HP:0010923,Anterior subcapsular cataract ,前囊下白内障,A type of cataract affecting the anterior pole of lens immediately adjacent to ('beneath') the lens capsule. ,校对中... +HP:0010924,Posterior cortical cataract ,后皮质型白内障,A cataract that affects the posterior part of the cortex of the lens. ,校对中... +HP:0010927,Abnormal blood inorganic cation concentration ,二价无机阳离子稳态平衡异常,An abnormality of divalent inorganic cation homeostasis. ,校对中... +HP:0010933,Hyperxanthinemia ,黄嘌呤代谢异常,An increased level of xanthine in the blood circulation. ,校对中... +HP:0010934,Xanthinuria ,黄嘌呤尿症,An increased concentration of xanthine in the urine. ,校对中... +HP:0010935,Abnormality of the upper urinary tract ,上尿路异常,An abnormality of the upper urinary tract. ,校对中... +HP:0010936,Abnormality of the lower urinary tract ,下尿路异常,An abnormality of the lower urinary tract. ,校对中... +HP:0010938,Abnormality of the external nose ,外鼻异常,An abnormality of the external nose. ,校对中... +HP:0010939,Abnormality of the nasal bone ,鼻骨异常,"An abnormality of the nasal bone, comprising the left nasal bone and the right nasal bone. ",校对中... +HP:0010940,Aplasia/Hypoplasia of the nasal bone ,鼻骨发育不全/发育不良,Absence or underdevelopment of the nasal bone. ,校对中... +HP:0010941,Aplasia of the nasal bone ,鼻骨未发育,Absence of the nasal bone. ,校对中... +HP:0010943,Echogenic fetal bowel ,胎儿肠管回声增强,Echogenic bowel is defined as fetal bowel with homogenous areas of echogenicity that are equal to or greater than that of surrounding bone. ,校对中... +HP:0010945,Fetal pyelectasis ,胎儿肾盂扩张,Mild pyelectasis is defined as a hypoechoic spherical or elliptical space within the renal pelvis that measures at least 5mm and not more than 10 mm. The measurement is taken on a transverse section through the fetal renal pelvis using the maximum anterior-to-posterior measurement. ,校对中... +HP:0010946,Dilatation of the renal pelvis ,肾盂扩张,The presence of dilatation of the renal pelvis. ,校对中... +HP:0010952,Mild fetal ventriculomegaly ,轻度胎儿脑室扩大,A kind of ventriculomegaly occurring in the fetal period and usually diagnosed by prenatal ultrasound. Cerebral ventriculomegaly is defined by atrial measurements 10 mm or more. Mild ventriculomegaly (MVM) is defined as measurements between 10 and 15 mm. Measurements are obtained from an axial plane at the level of the thalamic nuclei just below the standard image to measure the BPD (PMID:16100637). ,校对中... +HP:0010953,Noncommunicating hydrocephalus ,非交通性脑积水,A form of hydrocephalus in which the flow of cerebrospinal fluid (CSF) within the cerebral ventricular system or in the outlets of the CSF to the arachnoid space is obstructed. ,校对中... +HP:0010954,Hypoplastic right heart ,右心发育不全,Underdevelopment of the right-sided structures of the heart. ,校对中... +HP:0010955,Dilatation of the bladder ,膀胱扩张,The presence of a dilated urinary bladder. ,校对中... +HP:0010956,Fetal megacystis ,胎儿巨膀胱症,Fetal megacystis is an abnormally enlarged bladder identified at any gestational age. ,校对中... +HP:0010957,Congenital posterior urethral valve ,先天性后尿道瓣膜,A developmental defect resulting in an obstructing membrane in the posterior male urethra. ,校对中... +HP:0010958,Bilateral renal agenesis ,双肾缺如,A bilateral form of agenesis of the kidney. ,校对中... +HP:0010959,Congenital cystic adenomatoid malformation of the lung ,先天性肺囊性腺瘤样畸形,Congenital cystic adenomatoid malformation (CCAM) can be diagnosed prenatally if ultrasound shows a cystic or solid lung tumor. A CCAM does not have systemic arterial blood supply (in contrast to bronchopulmonary sequenstration). It is a cystic area within the lung that originates from abnormal embryogenesis. ,校对中... +HP:0010965,Abnormal circulating phytanic acid concentration ,植烷酸代谢异常,Any deviation from the normal concentration of phytanic acid in the blood circulation. ,校对中... +HP:0010969,Abnormality of glycolipid metabolism ,糖脂代谢异常,An abnormality of glycolipid metabolism. ,校对中... +HP:0010970,Blood group antigen abnormality ,血型抗原异常,An abnormality of an erythrocyte cell surface molecule. ,校对中... +HP:0010971,Absence of Lutheran antigen on erythrocytes ,红细胞Lutheran抗原缺失,Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the surface of red blood cells. ,校对中... +HP:0010972,Anemia of inadequate production ,红细胞 生成不足性贫血,A kind of anemia characterized by inadequate production of erythrocytes. ,校对中... +HP:0010975,Abnormal B cell count ,B细胞数量异常,"A deviation from the normal count of B cells, i.e., the cells that are formed in the bone marrow, migrate to the peripheral lymphatic system, and mature into plasma cells or memory cells. ",校对中... +HP:0010976,B lymphocytopenia ,B淋巴细胞减少症,An abnormal decrease from the normal count of B cells. ,校对中... +HP:0010978,Abnormality of immune system physiology ,免疫系统功能异常,A functional abnormality of the immune system. ,校对中... +HP:0010982,Polygenic inheritance ,多基因遗传,A type of multifactorial inheritance governed by the simultaneous action of many (more than three) gene loci. ,校对中... +HP:0010983,Oligogenic inheritance ,寡基因遗传,"A type of multifactorial inheritance governed by the simultaneous action of a few gene loci. It is recommended this term be used for traits governed by three loci, although it is noted that usage of this term in the literature is not uniform. ",校对中... +HP:0010984,Digenic inheritance ,双基因遗传,A type of multifactorial inheritance governed by the simultaneous action of two gene loci. ,校对中... +HP:0010989,Abnormality of the intrinsic pathway ,内源性凝血异常,An abnormality of the intrinsic pathway (also known as the contact activation pathway) of the coagulation cascade. ,校对中... +HP:0010990,Abnormality of the common coagulation pathway ,共同凝血途径异常,"An abnormality of blood coagulation, common pathway. ",校对中... +HP:0010992,Stress urinary incontinence ,应激性尿失禁,"Involuntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing. ",校对中... +HP:0010994,Abnormal corpus striatum morphology ,纹状体形态异常,"Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens. ",校对中... +HP:0010997,Chromosomal breakage induced by ionizing radiation ,电离辐射诱发的染色体断裂,Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with ionizing radiation. ,校对中... +HP:0010999,Aplasia of the optic tract ,视束的发育缺陷, , +HP:0011001,Increased bone mineral density ,骨密度增加,"An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones. ",校对中... +HP:0011002,Osteopetrosis ,骨硬化,"Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. ",校对中... +HP:0011003,High myopia ,高度近视,A severe form of myopia with greater than -6.00 diopters. ,校对中... +HP:0011004,Abnormal systemic arterial morphology ,全身动脉形态异常,"An abnormality of the systemic arterial tree, which consists of the aorta and other systemic arteries. ",校对中... +HP:0011013,Abnormal circulating carbohydrate concentration ,碳水化合物代谢/体内稳态平衡异常,A deviation from the normal concentration of a carbohydrate in the blood circulation. ,校对中... +HP:0011014,Abnormal glucose homeostasis ,葡萄糖内稳态平衡异常,Abnormality of glucose homeostasis. ,校对中... +HP:0011020,Abnormality of mucopolysaccharide metabolism ,粘多糖代谢异常,An abnormality of the metabolism of mucopolysaccharide. ,校对中... +HP:0011021,Abnormality of circulating enzyme level ,循环系统内酶浓度水平异常, , +HP:0011024,Abnormality of the gastrointestinal tract ,胃肠道异常,An abnormality of the gastrointestinal tract. ,校对中... +HP:0011025,Abnormal cardiovascular system physiology ,心血管系统生理异常,Abnormal functionality of the cardiovascular system. ,校对中... +HP:0011026,Aplasia/Hypoplasia of the vagina ,阴道发育不全/发育不良,Aplasia or developmental hypoplasia of the vagina. ,校对中... +HP:0011027,Abnormal fallopian tube morphology ,输卵管形态异常,An abnormality of the fallopian tube. ,校对中... +HP:0011029,Internal hemorrhage ,内出血,The presence of hemorrhage within the body. ,校对中... +HP:0011031,Abnormality of iron homeostasis ,铁紊乱,An abnormality of the homeostasis (concentration) of iron cation. ,校对中... +HP:0011033,Impairment of fructose metabolism ,果糖代谢障碍,An impairment of a fructose metabolic process. ,校对中... +HP:0011034,Amyloidosis ,淀粉样变,The presence of amyloid deposition in one or more tissues. Amyloidosis may be defined as the extracellular deposition of amyloid in one or more sites of the body. ,校对中... +HP:0011035,Abnormal renal cortex morphology ,肾皮质形态异常,An abnormality of the cortex of the kidney. ,校对中... +HP:0011036,Abnormality of renal excretion ,肾排泄异常,An altered ability of the kidneys to void urine and/or specific substances. ,校对中... +HP:0011039,Abnormality of the helix ,耳轮异常,An abnormality of the helix. The helix is the outer rim of the ear that extends from the insertion of the ear on the scalp (root) to the termination of the cartilage at the earlobe. ,校对中... +HP:0011040,Abnormality of the intrahepatic bile duct ,肝内胆管异常,An abnormality of the intrahepatic bile duct. ,校对中... +HP:0011042,Abnormal blood potassium concentration ,钾离子稳态平衡异常,An abnormal concentration of potassium. ,校对中... +HP:0011043,Abnormality of circulating adrenocorticotropin level ,血促肾上腺皮质激素水平异常,An abnormal concentration of corticotropin in the blood. ,校对中... +HP:0011044,Abnormal number of permanent teeth ,恒牙数目异常,The presence of an altered number of of permanent teeth. ,校对中... +HP:0011051,Agenesis of premolar ,前磨牙发育不全,Agenesis of premolar tooth. ,校对中... +HP:0011053,Agenesis of mandibular premolar ,下颌前臼齿（前磨牙）发育不全,Agenesis of mandibular premolar. ,校对中... +HP:0011054,Agenesis of molar ,大臼齿未发育,Agenesis of molar tooth. ,校对中... +HP:0011055,Agenesis of permanent molar ,恒大臼齿发育不全,Agenesis of secondary molar tooth. ,校对中... +HP:0011056,Agenesis of first permanent molar tooth ,第一恒磨牙发育不全,Agenesis of either maxillary first permanent molar or mandibular first permanent molar or both. ,校对中... +HP:0011060,Dentinogenesis imperfecta limited to primary teeth ,乳牙牙本质发育不良,Developmental dysplasia of dentin affecting only the primary dentition. ,校对中... +HP:0011061,Abnormality of dental structure ,牙齿结构异常,An abnormality of the structure or composition of the teeth. ,校对中... +HP:0011062,Misalignment of incisors ,门牙错位,Misaligned incisor. ,校对中... +HP:0011065,Conical incisor ,锥状切牙,An abnormal conical morphology of the incisor tooth. ,校对中... +HP:0011067,Mesiodens ,正中多生牙,A supernumerary tooth in the midline between the maxillary central incisors. ,校对中... +HP:0011068,Odontoma ,牙瘤,The presence of an odontoma. ,校对中... +HP:0011069,Supernumerary tooth ,多生牙,The presence of one or more teeth additional to the normal number. ,校对中... +HP:0011072,Rootless teeth ,无根牙, , +HP:0011073,Abnormality of dental color ,牙齿颜色异常,A developmental defect of tooth color. ,校对中... +HP:0011078,Abnormality of canine ,犬齿异常,An abnormality of canine tooth. ,校对中... +HP:0011079,Impacted tooth ,阻生牙,A tooth that has not erupted because of local impediments (overcrowding or fibrous gum overgrowth). ,校对中... +HP:0011081,Incisor macrodontia ,巨大切牙,Increased size of the incisor tooth. ,校对中... +HP:0011084,Hypocalcification of dental enamel ,牙釉质钙化不全,A form of hypomineralization of enamel characterized by reduced calcification. ,校对中... +HP:0011085,Hypomature dental enamel ,牙釉质发育不全,"A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. ",校对中... +HP:0011087,Talon cusp ,副牙尖,Talon cusp is an accessory cusp located near the cingulum (the portion of the lingual or palatal aspect of the tooth that forms a convex protuberance at the cervical third of the anatomic crown). ,校对中... +HP:0011090,Fused teeth ,融合牙,The union of two separately developing tooth germs typically leading to one less tooth than normal in the affected dental arch. ,校对中... +HP:0011092,Mulberry molar ,桑葚状大臼齿,"Mulberry molars are irregular teeth generally affecting the first molars and are characterized by a grossly deformed crown imitating, as the name implies, the surface of a mulberry. ",校对中... +HP:0011094,Increased overbite ,过咬合,Maxillary teeth cover the mandibular teeth when biting to an increased degree. The feature is defined as a vertical overlap of the maxillary incisors over the mandibular incisors that exceeds 2 mm. ,校对中... +HP:0011096,Peripheral demyelination ,周围性脱髓鞘,A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system. ,校对中... +HP:0011097,Epileptic spasm ,癫痫性痉挛,"A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur: Grimacing, head nodding, or subtle eye movements. Epileptic spasms frequently occur in clusters. Infantile spasms are the best known form, but spasms can occur at all ages ",校对中... +HP:0011098,Speech apraxia ,失读症,"A type of apraxia that is characterized by difficulty or inability to execute speech movements because of problems with coordination and motor problems, leading to incorrect articulation. An increase of errors with increasing word and phrase length may occur. ",校对中... +HP:0011099,Spastic hemiparesis ,痉挛性偏瘫,Unilateral paresis (weakness) with spasticity of the affected muscles and increased tendon reflexes. ,校对中... +HP:0011100,Intestinal atresia ,肠闭锁,"An abnormal closure, or atresia of the tubular structure of the intestine. ",校对中... +HP:0011102,Ileal atresia ,回肠闭锁,"An abnormal closure, or atresia of the tubular structure of the ileum. ",校对中... +HP:0011103,Abnormal left ventricular outflow tract morphology ,左室流出道形态异常,An abnormality of the outflow tract of the left ventricle. ,校对中... +HP:0011106,Hypovolemia ,血容量不足,"An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood. ",校对中... +HP:0011107,Recurrent aphthous stomatitis ,复发性口疮性口炎,"Recurrent episodes of ulceration of the oral mucosa, typically presenting as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. ",校对中... +HP:0011108,Recurrent sinusitis ,复发性鼻窦炎,A recurrent form of sinusitis. ,校对中... +HP:0011109,Chronic sinusitis ,慢性鼻窦炎,A chronic form of sinusitis. ,校对中... +HP:0011110,Recurrent tonsillitis ,复发性扁桃体炎,"Inflammation of the tonsils that has occurred repeatedly. The definition of recurrent may vary somewhat, but the criteria used recently as a measure of severity were five or more episodes of true tonsillitis per year, symptoms recurring for at least a year, and episodes that are disabling and that prevent normal functioning. In some cases recurrent tonsillitis may be related to immunosusceptibility. Evidence exists for a genetic predisposition for recurrent tonsillitis. ",校对中... +HP:0011114,Defective production of NFKB1-dependent cytokines ,NFKB1依赖的细胞因子产生缺陷,An impairment in the production by leukocytes of NFKB1-dependent cytokines such as tumor necrosis factor-alpha and interferon-alpha. ,校对中... +HP:0011118,Abnormality of tumor necrosis factor secretion ,肿瘤坏死因子分泌异常,An abnormality in the production or cellular release of tumor necrosis factor. ,校对中... +HP:0011120,Concave nasal ridge ,凹鼻嵴,Nasal ridge curving posteriorly to an imaginary line that connects the nasal root and tip. ,校对中... +HP:0011121,Abnormality of skin morphology ,皮肤形态异常,Any morphological abnormality of the skin. ,校对中... +HP:0011123,Inflammatory abnormality of the skin ,皮肤炎症反应,"The presence of inflammation of the skin. That is, an abnormality of the skin resulting from the local accumulation of fluid, plasma proteins, and leukocytes. ",校对中... +HP:0011124,Abnormal epidermal morphology ,表皮形态异常,An abnormality of the morphology of the epidermis. ,校对中... +HP:0011127,Perioral eczema ,口周湿疹,A type of eczema that occurs in the lips and perioral area. ,校对中... +HP:0011131,Perianal rash ,肛周皮疹,The presence of a rash (change of color and texture) of the perianal skin. ,校对中... +HP:0011132,Chronic furunculosis ,慢性疖病,"A furuncle (boil) is a skin infection involving an entire hair follicle and nearby skin tissue. Chronic furunculosis refers to recurrent episodes of furuncles, often caused by recurrent staphylococcus infection. ",校对中... +HP:0011133,Increased sensitivity to ionizing radiation ,电离辐射敏感性增强,An abnormally increased sensitivity to the effects of ionizing radiation. ,校对中... +HP:0011134,Low-grade fever ,低热,Mild fever that does not exceed 38.5 degrees centigrade. ,校对中... +HP:0011136,Aplasia of the sweat glands ,汗腺发育不全,Absence of the sweat glands. ,校对中... +HP:0011147,Typical absence seizure ,典型的失神发作,"A typical absence seizure is a type of generalised non-motor (absence) seizure characterised by its sudden onset, interruption of ongoing activities, a blank stare, possibly a brief upward deviation of the eyes. Usually the patient will be unresponsive when spoken to. Duration is a few seconds to half a minute with very rapid recovery. Although not always available, an EEG would usually show 3 Hz generalized epileptiform discharges during the event. ",校对中... +HP:0011149,Absence seizure with eyelid myoclonia ,失神发作伴眼睑肌阵挛,An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterised by forced upward jerking of the eyelids during an absence seizure. ,校对中... +HP:0011150,Myoclonic absence seizure ,肌阵挛失神发作,"Myoclonic absence seizure is a type of generalized non-motor (absence) seizure characterised by an interruption of ongoing activities, a blank stare and rhythmic three-per-second myoclonic movements, causing ratcheting abduction of the upper limbs leading to progressive arm elevation, and associated with 3 Hz generalized spike-wave discharges on the electroencephalogram. Duration is typically 10-60 s. Whilst impairment of consciousness may not be obvious the ILAE classified this seizure as a generalized non-motor seizure in 2017. ",校对中... +HP:0011151,Atypical absence status epilepticus ,非典型失神癫痫持续状态,Atypical absence status epilepticus is a type of generalized non-convulsive status epilepticus without coma that is semiologically a prolonged atypical absence seizure. ,校对中... +HP:0011152,Early onset absence seizures ,早发性失神发作,Typical absence seizures starting before the age of 4 years. ,校对中... +HP:0011153,Focal motor seizure ,局灶性运动性癫痫发作,A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation. ,校对中... +HP:0011154,Focal autonomic seizure ,局灶性自主神经癫痫发作,An autonomic seizure is a type of focal non-motor seizure characterized by alteration of autonomic nervous system function as the initial semiological feature. ,校对中... +HP:0011157,Focal sensory seizure ,局灶性感觉性发作,A focal sensory seizure is a type seizure beginning with a subjective sensation. ,校对中... +HP:0011158,Focal sensory seizure with auditory features ,伴有听觉特征的局灶性感觉发作,"A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. ",校对中... +HP:0011159,Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena ,局灶性自主神经性癫痫发作伴上腹部感觉/恶心/呕吐/其他胃肠道现象,A type of focal autonomic seizure characterised by symptoms or signs pertaining to the gastrointestinal system as the initial semiological feature. ,校对中... +HP:0011161,Focal sensory seizure with olfactory features ,有嗅觉特征的局灶性感觉癫痫,Seizures characterized by olfactory phenomena as its first clinical manifestation. ,校对中... +HP:0011163,Focal sensory seizure with somatosensory features ,伴躯体感觉特征的局灶性感觉性癫痫发作,"A seizure characterized by sensory phenomena including tingling, numbness, electric-shock like sensation, pain, sense of movement, or desire to move as its first clinical manifestation. ",校对中... +HP:0011165,Focal sensory seizure with visual features ,伴有视觉特征的局灶性感觉发作,"A seizure characterized by elementary visual hallucinations such as flashing or flickering lights/colours, or other shapes, simple patterns, scotomata, or amaurosis as its first clinical manifestation. ",校对中... +HP:0011166,Focal myoclonic seizure ,局灶性肌阵挛发作,"A type of focal motor seizure characterized by sudden, brief (<100 ms) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. ",校对中... +HP:0011167,Focal tonic seizure ,局灶性强直发作,"A type of focal motor seizure characterized by sustained increase in muscle contraction, lasting a few seconds to minutes. ",校对中... +HP:0011168,Focal seizure with eyelid myoclonia ,局灶性癫痫伴眼睑肌阵挛,"Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures. ",校对中... +HP:0011169,Generalized clonic seizure ,全面性阵挛性发作,"Generalized clonic seizure is a type of generalized motor seizure characterised by sustained bilateral jerking, either symmetric or asymmetric, that is regularly repetitive and involves the same muscle groups. ",校对中... +HP:0011170,Generalized myoclonic-atonic seizure ,全面性肌阵挛-失张力发作,A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jerk followed by an atonic motor component. ,校对中... +HP:0011171,Simple febrile seizure ,单纯型热性惊厥,"A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance. ",校对中... +HP:0011172,Complex febrile seizure ,复杂性高热惊厥,"A febrile seizure that has any of the following features: focal semiology (or associated with post-ictal neurologic abnormalities beyond drowsiness, such as a Todd's paresis), prolonged seizure beyond 15 minutes, or recurring (occurring more than once) in a 24 hour period. ",校对中... +HP:0011174,Focal hyperkinetic seizure ,局灶性过度运动发作,"A focal seizure characterized at onset by predominantly proximal limb or axial muscles producing irregular sequential ballistic movements, such as pedaling, pelvic thrusting, thrashing, rocking movements. ",校对中... +HP:0011182,Interictal epileptiform activity ,发作间期癫痫样放电,"Epileptiform activity refers to distinctive EEG waves or complexes distinguished from background activity found in in a proportion of human subjects with epilepsy, but which can also be found in subjects without seizures. Interictal epileptiform activity refers to such activity that occurs in the absence of a clinical or subclinical seizure. ",校对中... +HP:0011185,EEG with focal epileptiform discharges ,脑电图局灶性癫痫样放电,EEG discharges recorded in particular areas of a localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG). ,校对中... +HP:0011188,Focal EEG discharges with secondary generalization ,局灶性脑放电继发泛化,Focal EEG discharges that secondarily spread to both hemispheres and can then be recorded over the entire scalp. ,校对中... +HP:0011190,Uni- and bilateral multifocal epileptiform discharges ,单侧和双侧多灶性痫样放电,Epileptiform discharges identified at multiple locations temporarily in both hemispheres and temporarily in one hemisphere. ,校对中... +HP:0011193,EEG with focal spikes ,脑电图，局灶性棘波,EEG with focal sharp transient waves of a duration less than 80 msec. ,校对中... +HP:0011194,EEG with series of focal spikes ,脑电图，成簇局灶棘波,Focal spikes occurring for several seconds. ,校对中... +HP:0011195,EEG with focal sharp slow waves ,脑电图，局灶性尖慢波,EEG with focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. ,校对中... +HP:0011196,EEG with focal sharp waves ,脑电图，局灶性尖波,EEG with focal sharp transient waves of a duration between 80 and 200 msec. ,校对中... +HP:0011197,EEG with focal spike waves ,脑电图，局灶性棘慢波,EEG with focal sharp transient waves of a duration less than 80 msec followed by a slow wave. ,校对中... +HP:0011198,EEG with generalized epileptiform discharges ,脑电图，伴广泛性癫痫样放电,EEG discharges recorded on the entire scalp typically seen in persons with epilepsy. ,校对中... +HP:0011199,EEG with generalized sharp slow waves ,脑电图，伴广泛性尖慢波,EEG with generalized sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. ,校对中... +HP:0011201,EEG with changes in voltage ,脑电图，电压变化,EEG with abnormal amplitude. ,校对中... +HP:0011203,EEG with abnormally slow frequencies ,伴异常缓慢频率的脑电图,EEG with abnormally slow frequencies. ,校对中... +HP:0011204,EEG with continuous slow activity ,脑电图持续慢活动,EEG showing diffuse slowing without interruption. ,校对中... +HP:0011215,Hemihypsarrhythmia ,偏侧高度节律失调,Hypsarrhythmia occurring in one hemisphere. ,校对中... +HP:0011219,Short face ,短脸,Facial height (length) is more than two standard deviations below the mean (objective); or an apparent decrease in the height (length) of the face (subjective). ,校对中... +HP:0011220,Prominent forehead ,前额中央突出,"Forward prominence of the entire forehead, due to protrusion of the frontal bone. ",校对中... +HP:0011221,Vertical forehead creases ,额头皱纹垂直,"Vertical soft tissue creases in the midline of the forehead, often extending from the hairline to the brow, and seen with facial expression or when the face is at rest. ",校对中... +HP:0011222,Depressed glabella ,印堂凹陷,"Posterior positioning of the glabella, i.e., of the midline forehead between the supraorbital ridges. ",校对中... +HP:0011223,Metopic depression ,额头下陷,"Linear vertical groove in the midline of the forehead, extending from hairline to glabella. ",校对中... +HP:0011224,Ablepharon ,无睑畸形,Absent eyelids. ,校对中... +HP:0011225,Epiblepharon ,睑赘皮,Redundant eyelid skin pressing the eyelashes against the cornea and/or conjunctiva. ,校对中... +HP:0011227,Elevated circulating C-reactive protein concentration ,C-反应蛋白水平升高,An abnormal elevation of the C-reactive protein level in the blood circulation. ,校对中... +HP:0011228,Horizontal eyebrow ,横眉,"An eyebrow that extends straight across the brow, without curve. ",校对中... +HP:0011229,Broad eyebrow ,宽眉,Regional increase in the width (height) of the eyebrow. ,校对中... +HP:0011230,Laterally extended eyebrow ,横向延伸眉,An eyebrow that extends laterally beyond the orbital rim rather than turning gently downward at that location. ,校对中... +HP:0011231,Prominent eyelashes ,睫毛突出,Eyelashes that draw the attention of the viewer due to increased density and/or length and/or curl without meeting the criteria of trichomegaly. ,校对中... +HP:0011232,Infra-orbital fold ,眶下皱襞,Elevated ridge(s) of skin starting well below the medial aspect of the lower lid that curves gradually upward toward and/or across the nasal bridge. ,校对中... +HP:0011234,Absent antihelix ,对耳轮缺失,No discernible ridge between concha and triangular fossa and helix. ,校对中... +HP:0011236,Angulated antihelix ,对耳轮棱型,Antihelical ridge that forms an acute angle between the antitragus and its bifurcation (stem) instead of a gently curving arc. ,校对中... +HP:0011238,Prominent inferior crus of antihelix ,对耳轮下脚突出,Increased protrusion of the inferior crus relative to the prominence of the antihelix stem. ,校对中... +HP:0011245,Abnormality of superior crus of antihelix ,对耳轮上脚异常,"An abnormality of the superior crus of the antihelix is the upper cartilaginous ridge arising at the bifurcation of the antihelix that ends beneath the fold of the ascending helix, and separates the concha from the triangular fossa. ",校对中... +HP:0011246,Underdeveloped superior crus of antihelix ,对耳轮上脚发育不良,Decreased protrusion of the superior crus relative to the prominence of a normal antihelix stem. ,校对中... +HP:0011247,Prominent superior crus of antihelix ,对耳轮上脚突出,Increased protrusion of the superior crus relative to the prominence of a normal antihelix stem. ,校对中... +HP:0011251,Underdeveloped antitragus ,对耳屏发育不良,Reduction in the anterosuperior prominence of the area between the bottom of the incisura and the inner margin of the antihelix. ,校对中... +HP:0011255,Absent crus of helix ,耳轮脚缺失,"Continuum between the tragus and ascending helix, without any evidence of a posterior extension (crus) towards the concha. ",校对中... +HP:0011261,Darwin tubercle of helix ,耳轮达尔文结节,Small expansion of the helical fold at the junction of the superior and descending portions of the helix. ,校对中... +HP:0011265,Cleft earlobe ,耳垂裂,Discontinuity in the convexity of the inferior margin of the lobe. ,校对中... +HP:0011266,"Microtia, first degree ",小耳畸形，1级,Presence of all the normal ear components and the median longitudinal length more than two standard deviations below the mean. ,校对中... +HP:0011267,"Microtia, third degree ",小耳畸形，3级,"Presence of some auricular structures, but none of these structures conform to recognized ear components. ",校对中... +HP:0011268,Absent tragus ,耳屏缺失,Lack of convexity or prominence of the contour of the ridge between the bottom of the incisura and the confluence of the ascending helix and crus helix. ,校对中... +HP:0011270,Duplicated tragus ,双耳屏,A complete or partial duplication of the tragus; expected to lie anterior to the normal tragus. ,校对中... +HP:0011271,Prominent tragus ,耳屏突出,Increase posterolateral protrusion of the tragus. ,校对中... +HP:0011272,Underdeveloped tragus ,耳屏发育不良,Decreased posterolateral protrusion of the tragus. ,校对中... +HP:0011273,Anisocytosis ,红细胞大小不均,Abnormally increased variability in the size of erythrocytes. ,校对中... +HP:0011274,Recurrent mycobacterial infections ,反复分枝杆菌感染,"Increased susceptibility to mycobacterial infections, as manifested by recurrent episodes of mycobacterial infection. ",校对中... +HP:0011275,Recurrent mycobacterium avium complex infections ,反复鸟分枝杆菌复合菌感染,"Increased susceptibility to mycobacterial avium complex infections, as manifested by recurrent episodes of mycobacterial infection. ",校对中... +HP:0011276,Vascular skin abnormality ,皮肤血管异常, , +HP:0011284,Short-segment aganglionic megacolon ,短段无神经节巨结肠,A type of aganglionic megacolon in which the aganglionic segment does not extend beyond the upper sigmoid. ,校对中... +HP:0011285,Long-segment aganglionic megacolon ,长节段无神经节巨结肠,A type of aganglionic megacolon in which the aganglionic segment extends proximal to the sigmoid. ,校对中... +HP:0011290,EEG with frontal sharp slow waves ,脑电图，额部尖慢波,EEG with sharp slow waves in the frontal region. Sharp slow waves are focal sharp transient waves of a duration between 80 and 200 msec followed by a slow wave. ,校对中... +HP:0011295,EEG with parietal sharp waves ,脑电图，伴顶部尖波,"EEG with sharp waves in the parietal region, i.e., sharp transient waves of a duration between 80 and 200 msec. ",校对中... +HP:0011297,Abnormal digit morphology ,手指/脚趾形态异常,"A morphological abnormality of a digit, i.e., of a finger or toe. ",校对中... +HP:0011298,Prominent digit pad ,指节垫,A soft tissue prominence of the ventral aspects of the fingertips or toe tips. ,校对中... +HP:0011300,Broad fingertip ,指尖变宽,Increased width of the distal segment of a finger. ,校对中... +HP:0011302,Long palm ,长掌,"For children from birth to 16 years of age the length of the palm is more than the 97th centile; or, the length of the palm appears relatively long compared to the finger length or the limb length. ",校对中... +HP:0011304,Broad thumb ,拇指变宽,Increased thumb width without increased dorso-ventral dimension. ,校对中... +HP:0011305,Partial absence of toe ,脚趾部分缺失,The absence of a phalangeal segment of a toe or hallux. ,校对中... +HP:0011308,Slender toe ,修长趾,Toes that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual. ,校对中... +HP:0011309,Tapered toe ,锥形趾,The gradual reduction in girth of the toe from proximal to distal. ,校对中... +HP:0011311,Sydney crease ,悉尼折痕,Extension of the proximal transverse crease (five finger crease) to the ulnar edge of the palm. ,校对中... +HP:0011313,Narrow nail ,窄甲,Decreased width of nail. ,校对中... +HP:0011314,Abnormality of long bone morphology ,长骨形态异常,An abnormality of size or shape of the long bones. ,校对中... +HP:0011315,Unicoronal synostosis ,单侧冠状缝闭合,Synostosis affecting only one of the coronal sutures. ,校对中... +HP:0011316,Left unicoronal synostosis ,左侧冠状缝闭合,Synostosis affecting only the left coronal suture. ,校对中... +HP:0011317,Right unicoronal synostosis ,右侧冠状缝闭合,Unicoronal synostosis affecting only the right coronal suture. ,校对中... +HP:0011318,Bicoronal synostosis ,双侧冠状缝闭合,Synostosis affecting the right and the left coronal suture. ,校对中... +HP:0011320,Unilambdoid synostosis ,单侧人字缝闭合,Premature synostosis of only one lambdoid suture. ,校对中... +HP:0011321,Left unilambdoid synostosis ,左侧人字缝早闭,Premature synostosis of only the left lambdoid suture. ,校对中... +HP:0011323,Cleft of chin ,下颚裂,"Incomplete fusion of the chin, resulting from a developmental defect and manifesting as a midline cleft or fissure of the chin. ",校对中... +HP:0011324,Multiple suture craniosynostosis ,多个颅缝早闭,"Craniosynostosis involving at least 2 cranial sutures, where the exact pattern of sutures fused has not been precisely specified. ",校对中... +HP:0011325,Pansynostosis ,泛颅缝早闭,Craniosynostosis of all calvarial sutures. ,校对中... +HP:0011326,Anterior plagiocephaly ,前斜头畸形,Asymmetry of the anterior part of the skull. ,校对中... +HP:0011327,Posterior plagiocephaly ,后斜头畸形,Asymmetry of the posterior part of the skull. ,校对中... +HP:0011328,Abnormality of fontanelles ,囟门异常,An abnormality of the fontanelle. ,校对中... +HP:0011329,Abnormality of cranial sutures ,颅缝异常,"Any anomaly of a cranial suture, that is one of the six membrane-covered openings in the incompletely ossified skull of the fetus or newborn infant. ",校对中... +HP:0011330,Metopic synostosis ,额缝早闭,Premature fusion of the metopic suture. ,校对中... +HP:0011332,Hemifacial hypoplasia ,面肌发育不全,"Unilateral underdevelopment of the facial tissues, including muscles and bones. ",校对中... +HP:0011333,Asymmetric crying face ,不对称哭容,Asymmetry observed in the face of a neonate or infant whose face appears symmetric at rest and asymmetric during crying as the mouth is pulled downward on one side while not moving on the other side. ,校对中... +HP:0011334,Facial shape deformation ,脸型异常, , +HP:0011335,Frontal hirsutism ,前额多毛,Excessive amount of hair growth on forehead. ,校对中... +HP:0011336,Bitemporal forceps marks ,双颞钳痕,"Bilateral temporal scarlike defects, which are said to resemble forceps marks. ",校对中... +HP:0011339,Abnormality of upper lip vermillion ,上唇红异常,"An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. ",校对中... +HP:0011341,Long upper lip ,上唇肥厚,Increased width of the upper lip. ,校对中... +HP:0011342,Mild global developmental delay ,轻度全面发育延迟,A mild delay in the achievement of motor or mental milestones in the domains of development of a child. ,校对中... +HP:0011343,Moderate global developmental delay ,中度全面发育延迟,A moderate delay in the achievement of motor or mental milestones in the domains of development of a child. ,校对中... +HP:0011344,Severe global developmental delay ,严重的全面性发育迟缓,A severe delay in the achievement of motor or mental milestones in the domains of development of a child. ,校对中... +HP:0011347,Abnormality of ocular abduction ,眼球外展异常,An abnormality involving the movement of the eye outwards. ,校对中... +HP:0011351,Moderate receptive language delay ,语言理解中度发育延迟,A moderate delay in the acquisition of the ability to understand the speech of others. ,校对中... +HP:0011352,Severe receptive language delay ,严重的理解性语言发育延迟,A severe delay in the acquisition of the ability to understand the speech of others. ,校对中... +HP:0011353,Arterial intimal fibrosis ,动脉内膜纤维化,Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries. ,校对中... +HP:0011354,Generalized abnormality of skin ,泛发性皮肤异常,An abnormality of the skin that is not localized to any one particular region. ,校对中... +HP:0011355,Localized skin lesion ,局限性皮损,A lesion of the skin that is located in a specific region rather than being generalized. ,校对中... +HP:0011356,Regional abnormality of skin ,皮肤局部异常,An abnormality of the skin that is restricted to a particular body region. ,校对中... +HP:0011358,Generalized hypopigmentation of hair ,泛发性毛发色素减退,Reduced pigmentation of hair diffusely. ,校对中... +HP:0011359,Dry hair ,干性毛发,Hair that lacks the lustre (shine or gleam) of normal hair. ,校对中... +HP:0011362,Abnormal hair quantity ,毛发数量异常,An abnormal amount of hair. ,校对中... +HP:0011364,White hair ,白发,Hypopigmented hair that appears white. ,校对中... +HP:0011365,Patchy hypopigmentation of hair ,斑片状毛发色素减退,Reduced pigmentation of hair in patches. ,校对中... +HP:0011367,Yellow nails ,黄指甲,Yellowish discoloration of the nails. ,校对中... +HP:0011369,Mongolian blue spot ,蒙古斑,Congenital deep dermal melanosis in the sacral area. ,校对中... +HP:0011370,Recurrent cutaneous fungal infections ,复发性皮肤真菌感染,"Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections. ",校对中... +HP:0011372,Aplasia of the inner ear ,内耳不发育,Absence of the inner ear due to a developmental defect. ,校对中... +HP:0011375,Cochlear aplasia ,耳蜗不发育,"Absence of the cochlea, a spiral shaped cavity in the inner ear, owing to a developmental defect. ",校对中... +HP:0011379,Dilated vestibule of the inner ear ,内耳前庭扩大,Dilatation of the vestibule of the inner ear. ,校对中... +HP:0011380,Morphological abnormality of the semicircular canal ,半规管形态异常,An abnormality of the morphology of the semicircular canal. ,校对中... +HP:0011381,Aplasia of the semicircular canal ,半规管不发育,Absence of the semicircular canal. ,校对中... +HP:0011382,Hypoplasia of the semicircular canal ,半规管发育不全,Underdevelopment of the semicircular canal. ,校对中... +HP:0011386,Narrow internal auditory canal ,内听道狭窄,Reduction in diameter of the internal auditory canal. ,校对中... +HP:0011387,Enlarged vestibular aqueduct ,前庭导水管扩大,Increased size of the vestibular aqueduct. ,校对中... +HP:0011388,Enlarged cochlear aqueduct ,耳蜗导水管扩大,"Increased size of the cochlear duct, i.e., of a duct that communicates between the perilymphatic space and the subarachnoid space, and transmits a vein from the cochlea to join the internal jugular. ",校对中... +HP:0011397,Abnormality of the dorsal column of the spinal cord ,脊髓后索异常,"An abnormality of the dorsal columns, i.e., of the dorsal portion of the gray substance of the spinal cord. The dorsal column consists of the fasciculus gracilis and fasciculus cuneatus and itself is part of the dorsal funiculus. ",校对中... +HP:0011399,Tibialis atrophy ,胫骨肌萎缩,Atrophy of the tibialis muscle. ,校对中... +HP:0011400,Abnormal CNS myelination ,中枢神经系统髓鞘异常,An abnormality of myelination of nerves in the central nervous system. ,校对中... +HP:0011401,Delayed peripheral myelination ,外周神经髓鞘化延迟,Delayed myelination in the peripheral nervous system. ,校对中... +HP:0011402,Demyelinating sensory neuropathy ,脱髓鞘性感觉神经病,Demyelination of peripheral sensory nerves. ,校对中... +HP:0011403,Abnormal umbilical cord blood vessels ,脐带血管异常, , +HP:0011405,Childhood onset short-limb short stature ,儿童期发病的短肢型矮小, , +HP:0011406,Infancy onset short-trunk short stature ,婴儿发病的短躯干矮小症,A type of disproportionate short stature characterized by a short trunk but a average-sized limbs with onset in infancy. ,校对中... +HP:0011407,Proportionate tall stature ,成比例高身材, , +HP:0011409,Abnormal placental membrane morphology ,胎盘胎膜异常,"Structural anomaly of the fetal membranes (also known as the amniochorionic or placental membranes), which comprise a vital intrauterine compartment, where they perform mechanical, immune, and endocrine functions to promote growth of the fetus and protection from environmental adversity. Amniochorionic membranes anatomically consist of a single layer of cuboidal amnion epithelial cells, chorionic trophoblasts, and scattered fibroblasts connected by a layer of type IV collagen-rich extracellular matrix. ",校对中... +HP:0011410,Caesarian section ,剖腹产,Delivery of a fetus through surgical incisions made through the abdominal wall (laparotomy) and the uterine wall (hysterotomy). ,校对中... +HP:0011412,Ventouse delivery ,胎吸分娩,"Delivery of newborn by means of a ventouse, a vacuum device used to assist the delivery of a baby when the second stage of labour has not progressed adequately. ",校对中... +HP:0011414,Hydropic placenta ,胎盘水肿,An abnormality of the placenta in which there are numerous cystic spaces within the placenta as well as placental enlargement. ,校对中... +HP:0011419,Placental abruption ,胎盘早剥,Separation of the placenta from the uterus wall before delivery. ,校对中... +HP:0011421,Death in adolescence ,青春期死亡,"Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years). ",校对中... +HP:0011423,Hyperchloremia ,高氯血症,An abnormally increased chloride concentration in the blood. ,校对中... +HP:0011424,Increased serum zinc ,血清锌含量增高,An increased consentration of zinc in the blood. ,校对中... +HP:0011432,High maternal serum alpha-fetoprotein ,母体血清甲胎蛋白浓度增高,An abnormally high concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. ,校对中... +HP:0011437,Maternal autoimmune disease ,母体自身免疫性疾病,A medical history of a fetus or child born to a mother with an autoimmune disease. ,校对中... +HP:0011438,Maternal teratogenic exposure ,孕期致畸暴露,A medical history of exposure of the mother of a child or fetus to a teratogenic substance during pregnancy. ,校对中... +HP:0011441,Abnormality of the medulla oblongata ,延髓异常,"An abnormality of the medulla oblongata, the lower half of the brainstem. ",校对中... +HP:0011442,Abnormal central motor function ,中枢性运动功能异常,An anomaly of the control or production of movement in the central nervous system. ,校对中... +HP:0011445,Athetoid cerebral palsy ,手足徐动型脑瘫,"A type of cerebral palsy characterized by slow, involuntary muscle movement and mixed muscle tone. ",校对中... +HP:0011446,Abnormality of higher mental function ,高级精神功能异常,"Cognitive, psychiatric or memory anomaly. ",校对中... +HP:0011447,Hyposegmentation of neutrophil nuclei ,中性粒细胞核低分叶,Hyposegmented (hypolobulated) or bilobed neutrophil nuclei. ,校对中... +HP:0011448,Ankle clonus ,踝阵挛,Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Ankle clonus is tested by rapidly flexing the foot upward. ,校对中... +HP:0011449,Knee clonus ,膝阵挛,Clonus is an involuntary tendon reflex that causes repeated flexion and extension of the foot. Knee clonus can be tested by rapidly pushing the patella towards the toes. ,校对中... +HP:0011451,Primary microcephaly ,先天性小头畸形,Head circumference below 2 standard deviations below the mean for age and gender at birth. ,校对中... +HP:0011452,Functional abnormality of the middle ear ,中耳机能异常,An abnormality of the function of the middle ear. ,校对中... +HP:0011457,Loss of eyelashes ,睫毛消退,This term refers to the loss of eyelashes that were previously present. ,校对中... +HP:0011458,Abdominal symptom ,腹部症状,A subjective manifestation of disease localized to the abdomen. ,校对中... +HP:0011459,Esophageal carcinoma ,食管癌,The presence of a carcinoma of the esophagus. ,校对中... +HP:0011461,Fetal onset ,胎儿期发病,Onset prior to birth but after 8 weeks of embryonic development (corresponding to a gestational age of 10 weeks). ,校对中... +HP:0011462,Young adult onset ,青年发病,Onset of disease at the age of between 16 and 40 years. ,校对中... +HP:0011463,Childhood onset ,儿童期发病,Onset of disease at the age of between 1 and 5 years. ,校对中... +HP:0011466,Aplasia/Hypoplasia of the gallbladder ,胆囊不发育/发育不全,Absence or underdevelopment of the gallbladder. ,校对中... +HP:0011467,Absent gallbladder ,胆囊缺失,A developmental defect in which the gallbladder fails to form. ,校对中... +HP:0011468,Facial tics ,面部抽动,"Sudden, repetitive, nonrhythmic motor movements (spasms), involving the eyes and muscles of the face. ",校对中... +HP:0011469,Nasal regurgitation ,鼻腔返流,Regurgitation of milk through the nose. ,校对中... +HP:0011470,Nasogastric tube feeding in infancy ,婴儿期鼻胃管饲,Feeding problem necessitating nasogastric tube feeding. ,校对中... +HP:0011471,Gastrostomy tube feeding in infancy ,婴儿期胃造口管饲,Feeding problem necessitating gastrostomy tube feeding. ,校对中... +HP:0011473,Villous atrophy ,绒毛萎缩,The enteric villi are atrophic or absent. ,校对中... +HP:0011476,Profound sensorineural hearing impairment ,极重度感音神经性听力损失,Complete loss of hearing related to a sensorineural defect. ,校对中... +HP:0011477,Upbeat nystagmus ,上跳性眼球震颤,"In primary position, the eyes drift slowly downward and then spontaneously beat upward. Upward gaze accentuates the nystagmus. The associated oscillopsias are often very irritating, but the symptoms are usually transient. ",校对中... +HP:0011478,True anophthalmia ,真无眼畸形,"Absence of globe, optic nerve, chiasm and optic tracts. No evidence of ocular tissue on MRI scan or examination. ",校对中... +HP:0011480,Unilateral microphthalmos ,单侧小眼畸形,A developmental anomaly characterized by abnormal smallness of one eye. ,校对中... +HP:0011481,Abnormal lacrimal duct morphology ,泪道形态异常,"An abnormality of the lacrimal duct, a duct that drain tears from the conjunctiva, via the lacrimal puncta, into the lacrimal sac. ",校对中... +HP:0011483,Anterior synechiae of the anterior chamber ,前房前粘连,Adhesions between the iris and the cornea. ,校对中... +HP:0011484,Posterior synechiae of the anterior chamber ,虹膜后粘连,Adhesions between the iris and the lens. ,校对中... +HP:0011487,Increased corneal thickness ,角膜厚度增加,A increased anteroposterior thickness of the cornea. ,校对中... +HP:0011488,Abnormal corneal endothelium morphology ,角膜内皮形态异常,"Abnormality of the corneal endothelium, that is, the single layer of cells on the inner surface of the cornea. ",校对中... +HP:0011490,Abnormal Descemet membrane morphology ,角膜后弹力层形态异常,"Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. ",校对中... +HP:0011491,Reduced number of corneal endothelial cells ,角膜内皮细胞的数目减少,A reduction in the number of corneal endothelial cells. ,校对中... +HP:0011492,Abnormality of corneal stroma ,角膜基质异常,"An abnormality of the stroma of cornea, also known as the substantia propria of cornea. ",校对中... +HP:0011493,Central opacification of the cornea ,角膜的中央混浊,Reduced transparency of the central portion of the corneal stroma. ,校对中... +HP:0011496,Corneal neovascularization ,角膜新生血管,Ingrowth of new blood vessels into the cornea. ,校对中... +HP:0011499,Mydriasis ,瞳孔散大,Abnormal dilatation of the iris. ,校对中... +HP:0011500,Polycoria ,多瞳症,Multiple pupils. ,校对中... +HP:0011501,Anterior lenticonus ,前圆锥形晶状体,"A conical projection of the anterior surface of the lens, occurring as a developmental anomaly. ",校对中... +HP:0011502,Posterior lenticonus ,后圆锥形晶状体,"A conical projection of the posterior surface of the lens, occurring as a developmental anomaly. ",校对中... +HP:0011504,Bull's eye maculopathy ,靶心样黄斑病变,Progressive maculopathy characterized by concentric regions of hyper- and hypo-pigmentation. ,校对中... +HP:0011505,Cystoid macular edema ,囊样黄斑水肿,Cystoid macular edema (CME) is any type of macular edema that involves cyst formation. ,校对中... +HP:0011506,Choroidal neovascularization ,脉络膜新生血管,Choroidal neovascularization (CNV) is the creation of new blood vessels in the choroid layer of the eye. ,校对中... +HP:0011507,Macular flecks ,黄斑斑点,Pale often indistinct lesions of the macula. ,校对中... +HP:0011508,Macular hole ,黄斑裂孔,"A macular hole is a small break in the macula, located in the center of the retina. ",校对中... +HP:0011509,Macular hyperpigmentation ,黄斑色素沉着,Increased amount of pigmentation in the macula lutea. ,校对中... +HP:0011510,Drusen ,玻璃膜疣,"Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. ",校对中... +HP:0011512,Hyperpigmentation of the fundus ,眼底的色素沉着,Increased pigmentation of the fundus ,校对中... +HP:0011513,Retinal cavernous angioma ,视网膜海绵状血管瘤,A benign tumor of the retina that appears as a grouping of blood-filled saccules within the inner retinal layers or on the surface of the optic disc. Retinal cavernous angioma are described as having a 'cluster of grapes' appearance. ,校对中... +HP:0011516,Achromatopsia ,色盲,"A condition where the retina contains no functional cone cells, so that in addition to the absence of color discrimination, vision in lights of normal intensity is difficult. ",校对中... +HP:0011520,Deuteranomaly ,绿色弱,"A type of anomalous trichromacy associated with abnormal M photopigment, such that the absorption spectrum is shifted toward L wavelengths. Affected individuals have difficulties distinguishing between red and green. ",校对中... +HP:0011523,Iris cyst ,虹膜囊肿,An iris cyst is composed of a single cell layer of epithelium and is filled with fluid. ,校对中... +HP:0011524,Iris melanoma ,虹膜黑色素瘤,Malignant tumor of melanocytes affecting the iris. ,校对中... +HP:0011527,Lentiglobus ,球形晶状体,"Exaggerated curvature of the lens of the eye, producing an anterior or posterior spherical bulging. ",校对中... +HP:0011530,Retinal hole ,视网膜裂孔,A small break in the retina. ,校对中... +HP:0011531,Vitritis ,玻璃体炎,"Inflammation of the vitreous body, characterized by the presence of inflammatory cells and protein exudate in the vitreous cavity. ",校对中... +HP:0011532,Subretinal exudate ,视网膜下渗出,A type of retinal exudate located in the subretinal space between the sensory retina and the retinal pigment epithelium. ,校对中... +HP:0011533,Snowflake vitreoretinal degeneration ,雪花型玻璃体视网膜变性,The appearance of yellow/white crystalline-like (hence the name) spots in the retina and thickening of the peripheral part of the vitreous. ,校对中... +HP:0011536,Right atrial isomerism ,右心房异构,"Right atrial isomerism is characterized by bilateral triangular, morphologically right atrial, appendages, both joining the atrial chamber along a broad front with internal terminal crest. ",校对中... +HP:0011537,Left atrial isomerism ,左心房异构,In left atrial isomerism there is a bilateral small finger-shaped morphologically left atrial appendage joining the atrial chamber along a narrow front without an internal terminal crest. ,校对中... +HP:0011539,Atrial situs ambiguous ,心房不定位,Common atrium without defining morphologic features. ,校对中... +HP:0011540,Congenitally corrected transposition of the great arteries ,先天矫正型大动脉转位,"The essence of the lesion is the combination of discordant atrioventricular and ventriculo-arterial connections. Thus, the morphologically right atrium is connected to a morphologically left ventricle across the mitral valve, with the left ventricle then connected to the pulmonary trunk. The morphologically left atrium is connected to the morphologically right ventricle across the tricuspid valve, with the morphologically right ventricle connected to the aorta. ",校对中... +HP:0011553,Discordant atrioventricular connection ,房室连接不协调,Connection of the right atrium to the left ventricle and of the left atrium to the right ventricle in a biventricular heart. ,校对中... +HP:0011555,Double inlet left ventricle ,左室双入口,"The condition in which both atria are joined to the left ventricle each by its own atrioventricular valve. Usually there is a hypoplastic right ventricle, which may be on the opposite side of the heart as usual. ",校对中... +HP:0011556,Double inlet right ventricle ,右室双入口,"The condition in which both atria are joined to the right ventricle each by its own atrioventricular valve. Usually, the left ventricle is hypoplastic. ",校对中... +HP:0011560,Mitral atresia ,二尖瓣闭锁,A congenital defect with failure to open of the mitral valve orifice. ,校对中... +HP:0011565,Common atrium ,共同心房,Complete absence of the interatrial septum with common atrioventricular valve and two atrioventricular connections. ,校对中... +HP:0011571,Parachute mitral valve ,降落伞型二尖瓣,"Abnormality of the mitral valve apparatus, whereby chordae attach to a single papillary muscle or hypoplastic papillary muscles. ",校对中... +HP:0011573,Hypoplastic tricuspid valve ,三尖瓣发育不全,Congenital defect characterized by underdevelopment of the tricuspid valve. ,校对中... +HP:0011575,Imperforate tricuspid valve ,三尖瓣闭锁,A tricuspid valve that has failed to open. ,校对中... +HP:0011577,Partial atrioventricular canal defect ,部分房室管缺损,A specific combination of heart defects including a primum atrial septal defect and cleft anterior mitral valve leaflet. There is not an inlet ventricular septal defect present. There are two valve annuluses and two valve orifices. ,校对中... +HP:0011579,Unbalanced atrioventricular canal defect ,不平衡型房室管缺损,"Anatomic features of unbalanced atrioventricular septal defect (AVSD) include varying amounts of ventricular hypoplasia, as well as malalignment of the atrioventricular junction. In complete AVSD, the common AV valve can be situated either equally over the right and left ventricles (balanced) or unequally over the ventricles (unbalanced). ",校对中... +HP:0011580,Short chordae tendineae of the mitral valve ,二尖瓣短腱索,Abnormally short chordae tendineae of the mitral valve. ,校对中... +HP:0011581,Double outlet left ventricle ,左室双出口,A congenital defect of heart development characterized by origin of both pulmonary artery and aorta from the morphological left ventricle. ,校对中... +HP:0011590,Double aortic arch ,双主动脉弓,"A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). ",校对中... +HP:0011595,Left aortic arch with retroesophageal right subclavian artery ,左位主动脉弓伴食管后右锁骨下动脉,"Aortic arch crosses the left mainstem bronchus. The first branch is the right carotid artery, the second branch is the left carotid artery, the third branch is the subclavian artery, the fourth branch is the right subclavian artery arising from the posteromedial aspect of the distal aortic arch and continuing posterior to the esophagus to the right hand side of the body. ",校对中... +HP:0011599,Mesocardia ,中位心,Mesocardia is an abnormal location of the heart in which the heart is in a midline position and the longitudinal axis of the heart lies in the mid-sagittal plane. ,校对中... +HP:0011611,Interrupted aortic arch ,主动脉弓断离,Non-continuity of the arch of aorta with an atretic point or absent segment. ,校对中... +HP:0011617,Pulmonary situs ambiguus ,肺原位异位,"An abnormality of the pulmonary situs, i.e., of the sidedness of the morphological right and left lungs, in which the morphology of both left and right lungs is the same. ",校对中... +HP:0011622,Inlet ventricular septal defect ,入口型室间隔缺损,A ventricular septal defect that involves the inlet of the right ventricular septum immediately inferior to the AV valve apparatus. ,校对中... +HP:0011623,Muscular ventricular septal defect ,肌部室间隔缺损,The trabecular septum is the largest part of the interventricular septum. It extends from the membranous septum to the apex and superiorly to the infundibular septum. A defect in the trabecular septum is called muscular VSD if the defect is completely rimmed by muscle. ,校对中... +HP:0011625,Multiple muscular ventricular septal defects ,多发肌部型室间隔缺损,A type of muscular ventricular septal defect characterized by the presence of multiple small defects in the ventricular septum. ,校对中... +HP:0011626,Scimitar anomaly ,弯刀异常,Right pulmonary venous return to the inferior vena cava. ,校对中... +HP:0011628,Congenital defect of the pericardium ,先天性心包缺陷,A developmental defect of the pericardium with congenital onset. ,校对中... +HP:0011629,Total absence of the pericardium ,完全型心包膜缺失,"No pericardium around the heart, occurring as a congenital defect, not the result of a surgical pericardectomy. ",校对中... +HP:0011636,Abnormal coronary artery origin ,冠状动脉起源异常,Isolated abnormalities of the coronary artery origins. This may be in associated with other structural heart malformations but not the patterns of complex structural heart malformations which result in abnormal course of the coronary arteries. ,校对中... +HP:0011638,Anomalous origin of left coronary artery from the pulmonary artery ,肺动脉源性左冠状动脉起源异常,"Left main coronary artery begins (branches off from) the pulmonary artery rather than as normal from the root of the aorta, above the left cusp of the aortic valve. ",校对中... +HP:0011640,Single coronary artery origin ,单一冠状动脉起源,The presence of a single coronary artery ostium from which both coronary arteries arise. ,校对中... +HP:0011645,Dilatation of the sinus of Valsalva ,主动脉窦部扩张,"Abnormal outpouching or sac-like dilatation of one of the anatomic dilations of the ascending aorta, which occurs just above the aortic valve. ",校对中... +HP:0011648,Patent ductus arteriosus after birth at term ,足月儿动脉导管未闭,Abnormal persistent patency of the ductus arteriosus in postnatal life when birth was at 37 completed weeks of gestation or greater. ,校对中... +HP:0011651,Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis ,右室双出口伴双交通室间隔缺损及肺动脉狭窄,"A double outlet right ventricle with a subaortic ventritricular septal defect (a hole between the two bottom chambers (ventricles) of the heart), that extends anterosuperiorly and are closely related to the pulmonary artery as well, are considered to be doubly committed. There is associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. ",校对中... +HP:0011658,Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis ,右室双出口伴肺动脉下室间隔缺损无肺动脉狭窄,"A double outlet right ventricle with a ventricular spetal defect (a hole between the two bottom chambers (ventricles) of the heart), that is considered to be closely related to the pulmonary origin. There is not associated pulmonary stenosis, the abnormal narrowing or constriction of the pulmonary artery, in the main pulmonary artery and/or in the left or right pulmonary artery branches. ",校对中... +HP:0011660,Anomalous origin of one pulmonary artery from ascending aorta ,一侧肺动脉异常起源于升主动脉,Anomalous origin of one pulmonary artery from the ascending aorta with the contralateral pulmonary artery arising from the right ventricle. ,校对中... +HP:0011662,Tricuspid atresia ,三尖瓣闭锁,Failure to develop of the tricuspid valve and thus lack of the normal connection between the right atrium and the right ventricle. ,校对中... +HP:0011663,Right ventricular cardiomyopathy ,右室心肌病,"Right ventricular dysfunction (global or regional) with functional and morphological right ventricular abnormalities, with or without left ventricular disease. ",校对中... +HP:0011664,Left ventricular noncompaction cardiomyopathy ,左室致密化不全心肌病,"Left ventricular non-compaction (LVNC) is characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. The myocardial wall is often thickened with a thin, compacted epicardial layer and a thickened endocardial layer. In some patients, LVNC is associated with left ventricular dilatation and systolic dysfunction, which can be transient in neonates. ",校对中... +HP:0011665,Takotsubo cardiomyopathy ,应激性心肌病,"Transient left ventricular apical ballooning syndrome or takotsubo cardiomyopathy is characterized by transient regional systolic dysfunction involving the left ventricular apex and/or mid-ventricle in the absence of obstructive coronary disease on coronary angiography. Patients present with an abrupt onset of angina-like chest pain, and have diffuse T-wave inversion, sometimes preceded by ST-segment elevation, and mild cardiac enzyme elevation. ",校对中... +HP:0011669,Left superior vena cava draining directly to the left atrium ,左上腔静脉接左心房,"A persistent left superior vena cava (PLSVC) that drains into the left atrium instead of the right atrium via the coronary sinus, resulting in a right to left sided shunt. ",校对中... +HP:0011670,Left superior vena cava draining to coronary sinus ,左上腔静脉接冠状窦,A persistent left superior vena cava (PLSVC) that drains into the right atrium via the coronary sinus. This is the case in 80-92% of cases of PLSVC and results in no hemodynamic consequence. ,校对中... +HP:0011671,Interrupted inferior vena cava with azygous continuation ,下腔静脉中断伴奇静脉延续,"Interrupted inferior vena cava with azygous continuation is the result of connection failure between the right subcardinal vein and the right vitelline vein. Consequently, venous blood from the caudal part of the body reaches the heart via the azygous vein and superior vena cava. ",校对中... +HP:0011672,Cardiac myxoma ,心脏粘液瘤,"A myxoma (tumor of primitive connective tissue) of the heart. Cardiac myxomas consist of stellate to plump, cytologically bland mesenchymal cells set in a myxoid stroma. Cardiac myxomas are of endocardial origina and general project from the endocardium into a cardiac chamber. ",校对中... +HP:0011675,Arrhythmia ,心律失常,Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. ,校对中... +HP:0011681,Subarterial ventricular septal defect ,动脉下室间隔缺损,A ventricular septal defect that lies beneath the semilunar valve(s) in the conal or outlet septum. ,校对中... +HP:0011682,Perimembranous ventricular septal defect ,膜周型室间隔缺损,"A ventricular septal defect that is confluent with and involves the membranous septum and is bordered by an atrioventricular valve, not including the type 3 VSDs. ",校对中... +HP:0011686,Abnormal coronary artery course ,冠状动脉走行异常,An abnormal path of a coronary artery. ,校对中... +HP:0011688,Supraventricular tachycardia with an accessory connection mediated pathway ,室上性心动过速伴旁路连接,"Supraventricular tachycardia in which an accessory pathway connecting the atria and ventricles, apart from the AV node, participates as a necessary part of a reentrant mechanism. ",校对中... +HP:0011695,Cerebellar hemorrhage ,小脑出血,Hemorrhage into the parenchyma of the cerebellum. ,校对中... +HP:0011699,Atrial reentry tachycardia ,心房折返性心动过速, , +HP:0011700,Automatic atrial tachycardia ,自律性房性心动过速,Chronic supraventricular tachycardia predominantly seen in childhood. ,校对中... +HP:0011702,Abnormal electrophysiology of sinoatrial node origin ,窦房结源性电生理异常,An abnormality of the sinoatrial (SA) node in the right atrium. THe SA node acts as the pacemaker of the heart. ,校对中... +HP:0011703,Sinus tachycardia ,窦性心动过速,Heart rate of greater than 100 beats per minute. ,校对中... +HP:0011704,Sick sinus syndrome ,病窦综合征,"An abnormality involving the generation of the action potential by the sinus node and is characterized by an atrial rate inappropriate for physiological requirements. Manifestations include severe sinus bradycardia, sinus pauses or arrest, sinus node exit block, chronic atrial tachyarrhythmias, alternating periods of atrial bradyarrhythmias and tachyarrhythmias, and inappropriate responses of heart rate during exercise or stress. ",校对中... +HP:0011705,First degree atrioventricular block ,一度房室传导阻滞,"Delay of conduction through the atrioventricular node, which is manifested as prolongation of the PR interval in the electrocardiogram (EKG). All atrial impulses reach the ventricles. ",校对中... +HP:0011706,Second degree atrioventricular block ,二度房室传导阻滞,"An intermittent atrioventricular block with failure of some atrial impulses to conduct to the ventricles, i.e., some but not all atrial impulses are conducted through the atrioventricular node and trigger ventricular contraction. ",校对中... +HP:0011707,Mobitz I atrioventricular block ,默比茨I型房室传导阻滞,Progressive PR interval prolongation with the subsequent occurrence of a single nonconducted P wave that results in a pause. The pause that follows the nonconducted impulse is less than fully compensatory (less than the sum of two normal sinus intervals). ,校对中... +HP:0011710,Bundle branch block ,束支传导阻滞,Block of conduction of electrical impulses along the Bundle of His or along one of its bundle branches. ,校对中... +HP:0011711,Left anterior fascicular block ,左前分支传导阻滞,Conduction block in the anterior division of the left bundle branch of the bundle of His. ,校对中... +HP:0011712,Right bundle branch block ,右束支传导阻滞,A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. ,校对中... +HP:0011713,Left bundle branch block ,左束支传导阻滞,A conduction block of the left branch of the bundle of His. This manifests as a generalized disturbance of QRS morphology on EKG. ,校对中... +HP:0011715,Trifascicular block ,三支传导阻滞,Abnormal conduction in all three divisions of the intraventricular conducting tissue. ,校对中... +HP:0011716,Junctional ectopic tachycardia ,交界性异位心动过速,Junctional ectopic tachycardia (JET) is a unique type of supraventricular arrhythmia defined by narrow QRS complex and atrioventricular (AV) dissociation or retrograde atrial conduction in a 1:1 pattern. ,校对中... +HP:0011720,Cardiac total anomalous pulmonary venous connection ,心型完全性肺静脉连接异常,Type 2 total anomalous pulmonary venous connection. ,校对中... +HP:0011726,Persistent fetal circulation ,持续性胎儿循环,"Systemic desaturation of a liveborn baby resulting from persistent pulmonary hypertension with a patent ductus arteriosus and patent foramen ovale, such that the circulation in postnatal life follows the fetal course. ",校对中... +HP:0011727,Peroneal muscle weakness ,腓骨肌无力,Weakness of the peroneal muscles. ,校对中... +HP:0011730,Abnormal central sensory function ,中枢感觉功能异常,"An abnormality of sensation related to CNS function. Assuming the primary sensory modalities are intact and the patient is alert and cooperative, the presence of an abnormality of sensory function may indicate a lesion of a parietal cortex, the thalamocortical projections to the parietal cortex, or the spinal cord. ",校对中... +HP:0011731,Abnormality of circulating cortisol level ,血皮质醇水平异常,An abnormality of the concentration of cortisol in the blood. ,校对中... +HP:0011734,Central adrenal insufficiency ,中枢性肾上腺功能不全,"A form of adrenal insufficiency related to a lack of ACTH, which leads to a decrease in the production of cortisol by the adrenal glands. Aldosterone production is not usually affected. ",校对中... +HP:0011735,Adrenocorticotropin deficient adrenal insufficiency ,促肾上腺皮质激素缺陷性肾上腺功能不全,Adrenal insufficiency secondary to a defect in ACTH production. ,校对中... +HP:0011736,Primary hyperaldosteronism ,原发性醛固酮增多症,A form of hyperaldosteronism caused by a defect within the adrenal gland. ,校对中... +HP:0011739,Dexamethasone-suppressible primary hyperaldosteronism ,地塞米松可抑制的原发性醛固酮增���症,A form of primary hyperaldosteronism in which the overproduction of aldosterone can be suppressed by the administration of dexamethasone. ,校对中... +HP:0011740,Glucocortocoid-insensitive primary hyperaldosteronism ,糖皮质激素不敏感的原发性醛固酮增多症,A form of primary hyperaldosteronism in which the overproduction of aldosterone cannot be suppressed by the administration of dexamethasone or similar glucocorticoids. ,校对中... +HP:0011743,Adrenal gland agenesis ,肾上腺发育缺失,Absent development of the adrenal gland. ,校对中... +HP:0011746,Secretory adrenocortical adenoma ,分泌型肾上腺皮质腺瘤,"An hormonally active adrenocortical adenoma, that is, an adenoma that secretes excessive amounts of adrenal hormones. ",校对中... +HP:0011748,Adrenocorticotropic hormone deficiency ,促肾上腺皮质激素不足,"A reduced ability to secrete adrenocorticotropic hormone (ACTH), a hormone that stimulates the adrenal cortex to secrete of glucocorticoids such as cortisol. ",校对中... +HP:0011749,Adrenocorticotropic hormone excess ,促肾上腺皮质激素过多,"Overproduction of adrenocorticotropic hormone (ACTH), which generally leads secondarily to overproduction of cortisol by the adrenal cortex. ",校对中... +HP:0011750,Neoplasm of the anterior pituitary ,垂体前叶肿瘤,"A tumor (abnormal growth of tissue) of the adenohypophysis, which is also known as the anterior lobe of the pituitary gland. ",校对中... +HP:0011752,Neoplasm of the posterior pituitary ,垂体后叶肿瘤,"The presence of a neoplasm (tumour) in the neurohypophysis, which is also known as the posterior lobe of the hypophysis. ",校对中... +HP:0011755,Ectopic posterior pituitary ,垂体后叶异位,"An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis. ",校对中... +HP:0011756,Posterior pituitary agenesis ,垂体后叶缺失,Absence of the neurohypophysis owing to a developmental defect. ,校对中... +HP:0011757,Posterior pituitary hypoplasia ,垂体后叶发育不全,Underdevelopment of the neurohypophysis. ,校对中... +HP:0011759,Pituitary gonadotropic cell adenoma ,垂体促性腺激素腺瘤,A type of pituitary adenoma that produces gonadotropins. ,校对中... +HP:0011760,Pituitary growth hormone cell adenoma ,垂体生长激素腺瘤,A type of pituitary adenoma that produces growth hormone. ,校对中... +HP:0011761,Pituitary null cell adenoma ,垂体裸细胞腺瘤,A type of pituitary adenoma that is of unknown cellular origin and that lacks immunocytochemical or fine structural markers. Null cell adenomas are not associated with hormone excess. ,校对中... +HP:0011762,Pituitary thyrotropic cell adenoma ,垂体促甲状腺素腺瘤,A type of pituitary adenoma that produces thyroid stimulating hormone (TSH). ,校对中... +HP:0011780,Thyroid hemiagenesis ,甲状腺偏侧缺如症,Absence of a lobe of the thyroid gland related to a failure of its embryologic development. ,校对中... +HP:0011781,Thyroid C cell hyperplasia ,甲状腺C细胞增生,An abnormal growth of parafollicular (C-cells) cells. ,校对中... +HP:0011782,Thyroid crisis ,甲状腺危象, , +HP:0011784,Thyrotoxicosis with diffuse goiter ,甲状腺毒症伴弥漫性甲状腺肿, , +HP:0011785,Thyrotoxicosis with toxic multinodular goiter ,毒性多结节性甲状腺肿, , +HP:0011786,Thyrotoxicosis with toxic single thyroid nodule ,甲状腺毒症伴毒性单个甲状腺结节, , +HP:0011787,Central hypothyroidism ,中枢性甲状腺功能减退症,A type of hypothyroidism due to an insufficient stimulation of an otherwise normal thyroid gland. Central hypothyroidism is caused by either pituitary (secondary hypothyroidism) or hypothalamic (tertiary hypothyroidism) defects. ,校对中... +HP:0011788,Increased circulating free T3 ,血液游离T3升高,"An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. ",校对中... +HP:0011789,Impaired sensitivity to thyroid stimulating hormone ,促甲状腺激素受体敏感性缺陷,Reduced sensitivity of thyroid follicle cells to stimulation by biologically active thyroid-stimulating hormone (TSH). ,校对中... +HP:0011790,Activating thyroid-stimulating hormone receptor defect ,促甲状腺激素受体激活性缺陷,Gain-of-function thyroid-stimulating hormone receptor (TSHR) defect. ,校对中... +HP:0011800,Midface retrusion ,面中部后缩,"Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle. ",校对中... +HP:0011801,Enlargement of parotid gland ,腮腺肿大,Increased size of the parotid gland. ,校对中... +HP:0011802,Hamartoma of tongue ,舌错构瘤,A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue. ,校对中... +HP:0011803,Bifid nose ,鼻裂,"Visually assessable vertical indentation, cleft, or depression of the nasal bridge, ridge and tip. ",校对中... +HP:0011805,Abnormal skeletal muscle morphology ,骨骼肌形态异常,A structural abnormality of a skeletal muscle. ,校对中... +HP:0011807,Type 1 muscle fiber atrophy ,1型肌纤维萎缩,Atrophy (wasting) affecting primary type 1 muscle fibers. This feature in general can only be observed on muscle biopsy. ,校对中... +HP:0011808,Decreased patellar reflex ,膝反射减弱,Decreased intensity of the patellar reflex (also known as the knee jerk reflex). ,校对中... +HP:0011809,Paradoxical myotonia ,反常性肌强直,A type of myotonia that worsens with repeated muscle contractions. ,校对中... +HP:0011812,Agraphesthesia ,图写感丧失,Impaired ability to recognize letters or numbers drawn by an examiner's fingertip on the patient's skin (the patients eyes are closed or covered throughout this examination). ,校对中... +HP:0011813,Increased cerebral lipofuscin ,脑脂褐素增加,"Lipofuscin (age pigment) is a brown-yellow, electron-dense, autofluorescent material that accumulates progressively over time in lysosomes of postmitotic cells, such as neurons and cardiac myocytes. This term pertains if there is an increase in the accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient. ",校对中... +HP:0011814,Increased urinary hypoxanthine ,尿次黄嘌呤增高,An increased level of hypoxanthine in the urine. ,校对中... +HP:0011817,Basal encephalocele ,基底脑膨出,"Basal encephalocele is an encephalocele that occurs along the cribriform plate or through the sphenoid bone. The mass may appear in the nasal cavity, nasopharynx, epipharynx, sphenoid sinus, posterior orbit, or pterygopalatine fossa. The important distinction from other types is that no external tumor is visible except in those rare instances of herniations so large that they protrude through the mouth or nares. ",校对中... +HP:0011819,Submucous cleft soft palate ,粘膜下软腭裂,A cleft of the muscular (soft) portion of the palate that is covered by mucous membrane. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. ,校对中... +HP:0011821,Abnormality of facial skeleton ,面部骨骼异常,An abnormality of one or more of the set of bones that make up the facial skeleton. ,校对中... +HP:0011822,Broad chin ,宽下巴,Increased width of the midpoint of the mandible (mental protuberance) and overlying soft tissue. ,校对中... +HP:0011823,Chin with horizontal crease ,髁唇沟凹陷,"Horizontal crease or fold situated below the vermilion border of the lower lip and above the fatty pad of the chin, with the face at rest. ",校对中... +HP:0011824,Chin with H-shaped crease ,髁唇沟凹陷,H-shaped crease in the fat pad of the chin. ,校对中... +HP:0011825,Tented philtrum ,帐篷型人中,Prominence of a triangular soft tissue area of the philtrum with the apex to the columella. ,校对中... +HP:0011829,Narrow philtrum ,人中狭窄,"Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations below the mean. Alternatively, an apparently decreased distance between the ridges of the philtrum. ",校对中... +HP:0011830,Abnormal oral mucosa morphology ,口腔黏膜形态异常,Abnormality of the oral mucosa. ,校对中... +HP:0011832,Narrow nasal tip ,鼻尖狭窄,Decrease in width of the nasal tip. ,校对中... +HP:0011833,Overhanging nasal tip ,鼻尖悬垂,Positioning of the nasal tip inferior to the nasal base. ,校对中... +HP:0011834,Moyamoya phenomenon ,烟雾现象,"A noninflammatory, progressive occlusion of the intracranial carotid arteries owing to the formation of netlike collateral arteries arising from the circle of Willis. ",校对中... +HP:0011835,Absent scaphoid ,舟骨缺如,Congenital absence of the scaphoid.. ,校对中... +HP:0011837,Partial IgA deficiency ,部分IgA缺乏,Detectable but decreased IgA levels that are more than 2 standard deviations below normal age-adjusted means. ,校对中... +HP:0011838,Sclerodactyly ,指硬皮病,Localized thickening and tightness of the skin of the fingers or toes. ,校对中... +HP:0011840,Abnormality of T cell physiology ,T细胞生理功能异常,A functional anomaly of T cells. ,校对中... +HP:0011847,Giant cell tumor of bone ,骨巨细胞瘤,A bone tumor composed of cellular spindle-cell stroma containing scattered multinucleated giant cells resembling osteoclasts. ,校对中... +HP:0011848,Abdominal colic ,腹部绞痛,"A type of abdominal pain that comes and goes in waves, most often starting and ending suddenly and being of severe intensity. ",校对中... +HP:0011849,Abnormal bone ossification ,骨化异常,"Any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance. ",校对中... +HP:0011850,Parotitis ,腮腺炎,Inflammation of the parotid gland. ,校对中... +HP:0011852,Chylopericardium ,乳糜心包,"Accumulation of chyle (the whitish fluid taken up by the lacteals in the intestine, consisting of an emulsion of lymph and triglyceride fat thatpasses into the veins by the thoracic duct) in the pericardium. Chylopericardium is generally caused by obstruction of or trauma to the thoracic duct. ",校对中... +HP:0011854,Hemoperitoneum ,腹腔积血,Accumulation of blood in the peritoneal cavity owing to internal hemorrhage. ,校对中... +HP:0011855,Pharyngeal edema ,咽部水肿,Abnormal accumulation of fluid leading to swelling of the pharynx. ,校对中... +HP:0011856,Pica ,异食癖,"An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. ",校对中... +HP:0011858,Reduced factor IX activity ,凝血因子IX活性减低,"Decreased activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. ",校对中... +HP:0011859,Punctate keratitis ,点状角膜炎,A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. ,校对中... +HP:0011860,Metaphyseal dappling ,斑点状干骺端,The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. ,校对中... +HP:0011861,Bilateral trilobed lungs ,双侧三叶肺,"Both lungs have three lobes. Normally, the left lung has two lobes, whereas the right lung has three lobes. ",校对中... +HP:0011863,Abnormal sternal ossification ,胸骨骨化异常,Any anomaly in the formation of the bony substance of the sternum. ,校对中... +HP:0011864,Elevated plasma pyrophosphate ,血浆焦磷酸盐升高,"An abnormally increased diphosphate(4-) concentration in the blood. Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate. ",校对中... +HP:0011867,Abnormal iliac wing morphology ,髂骨翼形态异常,An anomaly of the ilium ala. This is the large expanded portion of the ilum which bounds the greater pelvis laterally. ,校对中... +HP:0011869,Abnormal platelet function ,血小板功能异常,Any anomaly in the function of thrombocytes. ,校对中... +HP:0011870,Impaired arachidonic acid-induced platelet aggregation ,花生四烯酸诱导的血小板聚集受损,Abnormal response to arachidonic acid as manifested by reduced or lacking aggregation of platelets upon addition of arachidonic acid. ,校对中... +HP:0011871,Impaired ristocetin-induced platelet aggregation ,瑞斯托菌素诱导的血小板聚集受损,Abnormal response to ristocetin as manifested by reduced or lacking aggregation of platelets upon addition of ristocetin. ,校对中... +HP:0011872,Impaired thrombin-induced platelet aggregation ,凝血酶诱导的血小板聚集障碍,Abnormal response to thrombin or thrombin mimetics as manifested by reduced or lacking aggregation of platelets upon addition of thrombin (or thrombin mimetics). ,校对中... +HP:0011875,Abnormal platelet morphology ,血小板形态异常,"An anomaly in platelet form, ultrastructure, or intracellular organelles. ",校对中... +HP:0011877,Increased mean platelet volume ,平均血小板体积增大,Average platelet volume above the upper limit of the normal reference interval. ,校对中... +HP:0011879,Decreased platelet glycoprotein Ib-IX-V ,血小板糖蛋白Ib-IX-V减少,Decreased cell membrane concentration of the glycoprotein complex Ib-IX-V. ,校对中... +HP:0011883,Abnormal platelet granules ,血小板颗粒异常,An anomaly of alpha or dense granules or platelet lysosomes. ,校对中... +HP:0011884,Abnormal umbilical stump bleeding ,异常脐带根部出血,Abnormal bleeding of the umbilical stump following separation of the cord at approximately 7-10 days after birth. ,校对中... +HP:0011885,Hemorrhage of the eye ,眼出血,Bleeding from vessels of the various tissues of the eye. ,校对中... +HP:0011886,Hyphema ,前房积血,Bleeding in the anterior chamber of the eye. ,校对中... +HP:0011887,Choroid hemorrhage ,脉络膜出血,Hemorrhage from the vessels of the choroid. ,校对中... +HP:0011888,Bleeding requiring red cell transfusion ,需要输红细胞的出血,Bleeding sufficiently severe as to require red cell transfusion (WHO Grade 3 or 4). ,校对中... +HP:0011889,Bleeding with minor or no trauma ,轻微或无创伤出血,Significant bleeding or hemorrhage without significant precipitating factor. ,校对中... +HP:0011890,Prolonged bleeding following procedure ,术后出血时间延长,Prolonged or protracted bleeding following an invasive procedure or intervention. ,校对中... +HP:0011891,Post-partum hemorrhage ,产后出血,Significant maternal haemorrhage/blood loss following deilvery of a child. ,校对中... +HP:0011892,Low levels of vitamin K ,维生素K缺乏症,A reduced concentration of vitamin K. ,校对中... +HP:0011894,Impaired thromboxane A2 agonist-induced platelet aggregation ,血栓素A2激动剂诱导的血小板聚集受损,Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. ,校对中... +HP:0011897,Neutrophilia ,中性粒细胞增多症,Increased number of neutrophils circulating in blood. ,校对中... +HP:0011900,Hypofibrinogenemia ,低纤维蛋白原血症,Decreased concentration of fibrinogen in the blood. ,校对中... +HP:0011902,Abnormal hemoglobin ,血红蛋白异常,"Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes. ",校对中... +HP:0011903,HbH hemoglobin ,血红蛋白H,"Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia. ",校对中... +HP:0011904,Persistence of hemoglobin F ,胎儿血红蛋白F持续存在,"Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent. ",校对中... +HP:0011905,Reduced hemoglobin A ,血红蛋白A减低,"Hemoglobin A (HbA) contains two globin alpha chains and two globin beta chains. HbA is normally the main adult hemoglobin, representing about 96-98 percent of all hemoglobin. This term represents a decreased in the proportion of HbA below this limit, and can be seen in various forms of thalassemia. ",校对中... +HP:0011906,Reduced beta/alpha synthesis ratio ,β/α合成比减低,A reduction in the ratio of production of beta globin to that of alpha globin. This is the major abnormality in the various forms of beta thalassemia. ,校对中... +HP:0011907,Reduced alpha/beta synthesis ratio ,α/β合成比减低,A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. ,校对中... +HP:0011908,Unilateral radial aplasia ,单侧桡骨发育不良,Missing radius bone on one side only associated with congenital failure of development. ,校对中... +HP:0011909,Flattened metacarpal heads ,掌骨头扁平,Abnormally flat shape of the heads of the metacarpal bones. ,校对中... +HP:0011910,Shortening of all phalanges of fingers ,全部指骨短,Abnormal reduction in length affecting all phalanges. ,校对中... +HP:0011911,Abnormality of metacarpophalangeal joint ,掌指关节异常,An anomaly of a metacarpophalangeal joint. ,校对中... +HP:0011913,Lumbar hypertrichosis ,腰部多毛症,"Excessive, increased hair growth located in the lumbar region. ",校对中... +HP:0011914,Thoracic hypertrichosis ,胸部多毛症,"Excessive, increased hair growth located in the thoracic region. ",校对中... +HP:0011915,Cardiovascular calcification ,心血管钙化,Abnormal calcification in the cardiovascular system. ,校对中... +HP:0011916,Toe extensor amyotrophy ,趾伸肌萎缩,"Atrophy of the extensor digitorum longus muscles, which mediate extension of the toes. ",校对中... +HP:0011917,Short 5th toe ,第五趾短,Underdevelopment (hypoplasia) of the fifth toe. ,校对中... +HP:0011918,Clinodactyly of the 4th toe ,第四趾屈趾畸形,"Bending or curvature of a fourth toe in the tibial direction (i.e., towards the big toe). ",校对中... +HP:0011923,Decreased activity of mitochondrial complex I ,线粒体复合物I活性降低,"A reduction in the activity of the mitochondrial respiratory chain complex I, which is part of the electron transport chain in mitochondria. ",校对中... +HP:0011924,Decreased activity of mitochondrial complex III ,线粒体复合物III活性降低,"A reduction in the activity of the mitochondrial respiratory chain complex III, which is part of the electron transport chain in mitochondria. ",校对中... +HP:0011925,Decreased activity of mitochondrial ATP synthase complex ,线粒体ATP合成酶复合物活性降低,"A reduction in the activity of the mitochondrial proton-transporting ATP synthase complex, which makes ATP via oxidative phosphorylation, and is sometimes described as Complex V of the electron transport chain. ",校对中... +HP:0011927,Short digit ,短指（趾）畸形,"One or more digit that appears disproportionately short compared to the hand/foot, whereby either the entire digit or a specific phalanx is shortened. ",校对中... +HP:0011929,Hypersegmentation of proximal phalanx of third finger ,第三指近节指骨基部额外分节,"Presence of an additional phalanx-like bone, producing an extra, wedge-shaped bone at the base of the proximal phalanx of the third finger. ",校对中... +HP:0011931,Abnormal cerebellar peduncle morphology ,小脑脚形态异常,"An anomaly of the cerebellar peduncles. The superior, middle, and inferior cerebellar peduncles emerge from the cerebellum. The superior cerebellar penduncles connect the cerebellum to the midbrain, the middle cerebellar peduncles connect the cerebellum to the pons, and the inferior cerebellar peduncle connects the medulla spinalis and medulla oblongata with the cerebellum. ",校对中... +HP:0011932,Abnormal superior cerebellar peduncle morphology ,小脑上脚形态异常,An anomaly of the superior cerebellar peduncle. ,校对中... +HP:0011933,Elongated superior cerebellar peduncle ,小脑上脚延长,Increased length of the superior cerebellar peduncle. ,校对中... +HP:0011934,Dilatation of mesenteric artery ,肠系膜动脉扩张,Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery . ,校对中... +HP:0011935,Decreased urinary urate ,尿液中尿酸盐减少,Decreased concentration of urate in the urine. ,校对中... +HP:0011936,Decreased plasma total carnitine ,血浆总肉碱降低,A decreased concentration of total carnitine in the blood. ,校对中... +HP:0011937,Hypoplastic fifth toenail ,第5趾甲发育不良,Underdeveloped nails of the fifth toes. ,校对中... +HP:0011939,3-4 finger cutaneous syndactyly ,第三-四指皮肤性并指,A soft tissue continuity in the A/P axis between fingers 3 and 4. ,校对中... +HP:0011940,Anterior wedging of T12 ,第12胸椎体前侧楔形,An abnormality of the shape of the thoracic vertebra T12 such that it is wedge-shaped (narrow towards the front). ,校对中... +HP:0011941,Anterior wedging of L2 ,第二腰椎体前侧楔形,An abnormality of the shape of the lumbar vertebra L2 such that it is wedge-shaped (narrow towards the front). ,校对中... +HP:0011942,Increased urinary sulfite ,尿亚硫酸盐增加,"Increased concentration of SO3(2-), i.e., sulfite, in the urine. ",校对中... +HP:0011943,Increased urinary thiosulfate ,尿硫代硫酸盐增加,Increased concentration of thiosulfate(2-) in the urine. ,校对中... +HP:0011944,Small vessel vasculitis ,小血管炎,"A type of vasculitis (inflammation of blood vessel walls) that affects blood vessels that are smaller than arteries, i.e., arterioles, venules, and capilllaries. ",校对中... +HP:0011945,Bronchiolitis obliterans organizing pneumonia ,闭塞性细支气管炎机化性肺炎,"Bronchiolitis obliterans organizing pneumonia (BOOP) is and interstitial lung abnormalitiy characterized histopathologically by plugs of granulation tissue lying within small airways, alveolar ducts, and alveoli and by chronic inflammatory cell infiltration in alveolar walls. Patients with BOOP generally present with subacute illness, including shortness of breath, fever, malaise, and weight loss. ",校对中... +HP:0011946,Bronchiolitis obliterans ,闭塞性细支气管炎,Inflammation and fibrosis of the bronchioles leading to partial or complete obstruction of these airways. ,校对中... +HP:0011947,Respiratory tract infection ,呼吸道感染,An infection of the upper or lower respiratory tract. ,校对中... +HP:0011949,Acute infectious pneumonia ,急性感染性肺炎,Acute inflammation of the lung due to an infection. ,校对中... +HP:0011950,Bronchiolitis ,细支气管炎,Inflammation of the bronchioles. ,校对中... +HP:0011951,Aspiration pneumonia ,吸入性肺炎,"Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. ",校对中... +HP:0011954,Nodular regenerative hyperplasia of liver ,肝脏结节性再生性增生,Diffuse benign transformation of the hepatic parenchyma into small regenerative nodules with minimal or no fibrosis. ,校对中... +HP:0011960,Substantia nigra gliosis ,黑质神经胶质增生,Focal proliferation of glial cells in the substantia nigra. ,校对中... +HP:0011961,Non-obstructive azoospermia ,非梗阻性无精症,"Absence of any measurable level of sperm in his semen, resulting from a defect in the production of spermatozoa in the testes. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. ",校对中... +HP:0011962,Obstructive azoospermia ,梗阻性无精症,"Absence of any measurable level of sperm in his semen, resulting from post-testicular obstruction or retrograde ejaculation. This can be differentiated from obstructive azoospermia on the basis of testicular biopsy. ",校对中... +HP:0011964,Intermittent painful muscle spasms ,间歇性痛性肌痉挛,History of repeated intermittent involuntary muscle contractions that were painful. ,校对中... +HP:0011965,Abnormal circulating citrulline concentration ,瓜氨酸代谢异常,Any deviation from the normal concentration of citrulline in the blood circulation. ,校对中... +HP:0011966,Elevated plasma citrulline ,血浆瓜氨酸升高,An increased concentration of citrulline in the blood. ,校对中... +HP:0011967,Decreased circulating copper concentration ,低铜血症,A reduced concentration of copper in the blood. ,校对中... +HP:0011968,Feeding difficulties ,喂养困难,"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. ",校对中... +HP:0011969,Elevated circulating luteinizing hormone level ,血液黄体生成素水平升高,An elevated concentration of luteinizing hormone in the blood. ,校对中... +HP:0011970,Cerebral amyloid angiopathy ,脑淀粉样血管病,"Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system. ",校对中... +HP:0011971,Dermatographic urticaria ,皮肤划痕症,"An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). ",校对中... +HP:0011972,Hypoglycorrhachia ,脑脊液糖减低,Abnormally low glucose concentration in the cerebrospinal fluid. ,校对中... +HP:0011973,Paroxysmal lethargy ,阵发性嗜睡,Repeated episodes of sudden-onset and transient lethargy. ,校对中... +HP:0011974,Myelofibrosis ,骨髓纤维化,Replacement of bone marrow by fibrous tissue. ,校对中... +HP:0011975,Aminoglycoside-induced hearing loss ,氨基糖甙类抗生素引起的听力损失,Partial or complete loss of hearing following ingestion of aminoglycoside antibiotics. ,校对中... +HP:0011976,Elevated urinary catecholamines ,尿儿茶酚胺升高,An increased concentration of catecholamine in the urine. ,校对中... +HP:0011977,Elevated urinary homovanillic acid ,尿高香草酸水平升高,An increased concentration of homovanillic acid in the urine. ,校对中... +HP:0011978,Elevated urinary vanillylmandelic acid ,尿香草扁桃酸水平升高,An increased concentration of vanillylmandelic acid in the urine. ,校对中... +HP:0011979,Elevated urinary dopamine ,尿多巴胺增高,An increased concentration of dopamine in the urine. ,校对中... +HP:0011980,Cholesterol gallstones ,胆固醇性胆结石,"Gallstones composed primarily of cholesterol, usually about 2-3 cm in length with an oval form and a yellow or green/brown color. ",校对中... +HP:0011981,Pigment gallstones ,色素性胆结石,Gallstones composed primarily of bilirubin and calcium salts (calcium bilirubinate) with a low cholesterol concentration. ,校对中... +HP:0011985,Acholic stools ,无胆色大便,Clay colored stools lacking bile pigment. ,校对中... +HP:0011986,Ectopic ossification ,异位性骨化,"Formation of abnormal, extraskeletal bony tissue, i.e., the presence of bone in soft tissue where bone normally does not exist. ",校对中... +HP:0011987,Ectopic ossification in muscle tissue ,肌肉组织异位性骨化,Formation of abnormal bony tissue within muscle tissue. ,校对中... +HP:0011988,Ectopic ossification in tendon tissue ,肌腱组织异位性骨化,Formation of abnormal bony tissue within tendon tissue. ,校对中... +HP:0011989,Ectopic ossification in ligament tissue ,韧带组织异位性骨化,Formation of abnormal bony tissue within ligament tissue. ,校对中... +HP:0011990,Abnormality of neutrophil physiology ,中性粒细胞生理功能异常,A functional abnormality of neutrophils. ,校对中... +HP:0011991,Abnormal neutrophil count ,中性粒细胞数量异常,A deviation from the normal range of neutrophil cell counts in the circulation. ,校对中... +HP:0011992,Abnormality of neutrophil morphology ,中性粒细胞形态异常,An abnormal form or size of neutrophils. ,校对中... +HP:0011993,Impaired neutrophil bactericidal activity ,中性粒细胞杀菌活性降低,A reduction in the ability of neutrophils to kill bacteria. ,校对中... +HP:0011994,Abnormal atrial septum morphology ,房间隔形态异常,An abnormality of the interatrial septum. ,校对中... +HP:0011995,Atrial septal dilatation ,房间隔扩张,"A bulging of the interatrial septum towards one side. In adults, atrial septal aneurysm can be defined as a protrusion of the aneurysm of >10 mm beyond the plane of the atrial septum as measured by transesophageal echocardiography. ",校对中... +HP:0011996,Elevated coagulation factor V activity ,因子V活性增高,"Increased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex. ",校对中... +HP:0011997,Postprandial hyperlactemia ,餐后高乳酸血症,Abnormally increased level of blood lactate following a meal. ,校对中... +HP:0011998,Postprandial hyperglycemia ,餐后高血糖,An increased concentration of glucose in the blood following a meal. ,校对中... +HP:0011999,Paranoia ,偏执狂,A persecutory delusion of supposed hostility of others. ,校对中... +HP:0012000,EEG with generalized spikes ,脑电图，广泛性棘波,EEG with generalized sharp transient waves of a duration less than 80 msec. ,校对中... +HP:0012001,EEG with generalized polyspikes ,脑电图，广泛性多棘波,EEG with repetitive generalized sharp transient waves of a duration less than 80 msec. ,校对中... +HP:0012002,Experiential epileptic aura ,癫痫先兆体验,"Affective, mnemonic or composite perceptual auras with subjective qualities similar to those experienced in life but are recognized by the subject as occurring outside of actual context. ",校对中... +HP:0012005,Deja vu aura ,似曾相识的感觉,A subjective feeling that an experience which is occurring for the first time has been experienced before. ,校对中... +HP:0012010,EEG with frontal focal spike waves ,脑电图，伴额叶局灶棘慢波,"EEG with focal sharp transient waves in the frontal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. ",校对中... +HP:0012012,EEG with parietal focal spike waves ,脑电图，伴顶部局灶棘慢波,"EEG with focal sharp transient waves in the parietal region, i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. ",校对中... +HP:0012014,EEG with central focal spikes ,脑电图，伴中央区局灶棘波,EEG with focal sharp transient waves of a duration less than 80 msec in the central region. ,校对中... +HP:0012015,EEG with frontal focal spikes ,脑电图，伴额部局灶棘波,EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region. ,校对中... +HP:0012016,EEG with occipital focal spikes ,脑电图，伴枕部局灶棘波。,EEG with focal sharp transient waves of a duration less than 80 msec in the occipital region. ,校对中... +HP:0012017,EEG with parietal focal spikes ,脑电图，伴顶部局灶棘波,EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region. ,校对中... +HP:0012018,EEG with temporal focal spikes ,脑电图，伴颞区局灶棘波,EEG with focal sharp transient waves of a duration less than 80 msec in the temporal region. ,校对中... +HP:0012019,Lens luxation ,晶状体脱位,Complete dislocation of the lens of the eye. ,校对中... +HP:0012020,Right aortic arch ,右位主动脉弓,Aorta descends on right instead of on the left. ,校对中... +HP:0012023,Galactosuria ,半乳糖尿症,Elevated concentration of galactose in the urine. ,校对中... +HP:0012024,Hypergalactosemia ,高半乳糖血症,Elevated concentration of galactose in the blood. ,校对中... +HP:0012026,Hyperornithinemia ,高鸟氨酸血症,Increased concentration of ornithine in the blood. ,校对中... +HP:0012027,Laryngeal edema ,喉头水肿,An abnormal accumulation of fluid and swelling in the tissues of the larynx. ,校对中... +HP:0012028,Hepatocellular adenoma ,肝细胞腺瘤,A benign tumor of the liver of presumably epithelial origin. ,校对中... +HP:0012030,Increased urinary cortisol level ,尿皮质醇水平增高,Abnormally increased concentration of cortisol in the urine. ,校对中... +HP:0012032,Lipoma ,脂肪瘤,Benign neoplasia derived from lipoblasts or lipocytes of white or brown fat. May be angiomatous or hibernomatous. ,校对中... +HP:0012033,Sacral lipoma ,骶脂肪瘤,Presence of a lipoma in the region of the sacrum. ,校对中... +HP:0012035,Steatocystoma multiplex ,多发性皮脂腺囊瘤,"Multiple, localized or widespread, asymptomatic or inflammatory dermal cysts involving the pilosebaceous units. Lesions can appear anywhere on the body, but steatocystoma multiplex is more commonly involved with those areas of the skin with a high density of developed pilosebaceous units (e.g., the axilla, groin, neck, and proximal extremities). ",校对中... +HP:0012036,Sternocleidomastoid amyotrophy ,胸锁乳突肌萎缩,"Wasting of the sternocleidomastoid muscle, the muscle in the anterior part of the neck that acts to flex and rotate the head. ",校对中... +HP:0012037,Pectoralis amyotrophy ,胸肌萎缩,"Wasting of the pectoral muscles, i.e., of the pectoralis major and pectoralis minor. ",校对中... +HP:0012038,Corneal guttata ,角膜液滴样病变,Corneal guttata are droplet-like accumulations of non-banded collagen on the posterior surface of Descemet's membrane. The presence of focal thickenings of Descemet's membrane histologically named guttae. Cornea guttata can be easily diagnosed in vivo and ex vivo by means of specular microscopy as it gives dark areas where no endothelial cells are visible. ,校对中... +HP:0012039,Descemet Membrane Folds ,后弹力膜皱襞,"Presence of folds in the Descemet membrane, which is the basement membrane of the endothelial (inner) cell layer of the cornea. Descemet membrane folds are generally a manifestation of inflammation or edema of the cornea. ",校对中... +HP:0012040,Corneal stromal edema ,角膜基质水肿,Abnormal accumulation of fluid and swelling of the stroma of cornea. ,校对中... +HP:0012041,Decreased fertility in males ,男性生育能力下降, , +HP:0012042,Aspirin-induced asthma ,阿司匹林诱发的哮喘,A type of asthma in which aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDs) that inhibit cyclooxygen-ase 1 (COX-1) exacerbate bronchoconstriction. ,校对中... +HP:0012043,Pendular nystagmus ,钟摆样眼球震颤,"Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction. ",校对中... +HP:0012044,Seesaw nystagmus ,跷跷板样眼球震颤,"Seesaw nystagmus is a type of pendular nystagmus where a half cycle consists of the elevation and intorsion of one eye, concurrently with the depression and extortion of the fellow eye. In the other half cycle, there is an inversion of the ocular movements. ",校对中... +HP:0012045,Retinal flecks ,视网膜斑点,Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions. ,校对中... +HP:0012046,Areflexia of upper limbs ,上肢反射消失,Inability to elicit tendon reflexes in the upper limbs. ,校对中... +HP:0012047,Hemeralopia ,昼盲,A visual defect characterized by the inability to see as clearly in bright light as in dim light. The word hemeralopia literally means day blindness. ,校对中... +HP:0012048,Oromandibular dystonia ,口下颌肌张力障碍,"A kind of focal dystonia characterized by forceful contractions of the face, jaw, and/or tongue causing difficulty in opening and closing the mouth and often affecting chewing and speech. ",校对中... +HP:0012049,Laryngeal dystonia ,喉肌张力障碍,"A form of focal dystonia that affects the vocal cords, associated with involuntary contractions of the vocal cords causing interruptions of speech and affecting the voice quality and often leading to patterned, repeated breaks in speech. ",校对中... +HP:0012050,Anasarca ,全身水肿,An extreme form of generalized edema with widespread and massive edema due to effusion of fluid into the extracellular space. ,校对中... +HP:0012051,Reactive hypoglycemia ,反应性低血糖,"Hypoglycermia following a meal (or more generally, after intake of glucose). ",校对中... +HP:0012052,Low serum calcitriol ,"低血清骨化三醇（1,25-二羟基胆钙化醇）","A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. ",校对中... +HP:0012053,Decreased circulating calcifediol concentration ,低血清骨化二醇（25-羟基胆钙化醇）,"A reduced concentration of calcifediol in the blood. Calcifediol is also known as calcidiol, 25-hydroxycholecalciferol and 25-Hydroxyvitamin D3. ",校对中... +HP:0012054,Choroidal melanoma ,脉络膜黑色素瘤,"Malignant tumor of melanocytes of the choroid. The classic appearance of choroidal melanoma is a pigmented dome-shaped or collar button-shaped tumor with an associated exudative retinal detachment. Choroidal melanoma is usually pigmented, but can be variably pigmented and even amelanotic (non-pigmented). ",校对中... +HP:0012055,Ciliary body melanoma ,睫状体黑色素瘤,Malignant tumor of melanocytes of the ciliary body. ,校对中... +HP:0012056,Cutaneous melanoma ,皮肤黑色素瘤,The presence of a melanoma of the skin. ,校对中... +HP:0012059,Lentigo maligna melanoma ,恶性雀斑样黑色素瘤,"A subtype of melanoma in situ that typically develops on sun-damaged skin. The lesion is typically a large, irregularly pigmented macule that has developed from an ordinary lentigo (a small pigmented spot on the skin with a clearly-defined edge). Change to a malignant lentigo typically takes place over 20 years or more, and many patients accept the change as a consequence of aging. ",校对中... +HP:0012060,Acral lentiginous melanoma ,肢端雀斑样黑色素瘤,"A type of cutaneous melanoma localized to the palm, sole, or beneath the nail (subungual melanoma). Acral lentiginous melanoma starts as a slowly-enlarging flat patch of discoloured skin and usually displays a size above 6 mm and often several centimetres or more in diameter upon diagnosis and variable pigmentation with a mixutre of colors including brown, and blue-grey, black and red. The surface of the lesion is initially smooth but later in the course may become thicker and irregular, and may ulcerate or bleed. ",校对中... +HP:0012061,Urinary excretion of sialylated oligosaccharides ,唾液酸化寡聚糖的尿排泄,Excretion of oligosaccharides conjugated to sialic acid in the urine. ,校对中... +HP:0012062,Bone cyst ,骨囊肿,A fluid filled cavity that develops with a bone. ,校对中... +HP:0012063,Aneurysmal bone cyst ,动脉瘤性骨囊肿,"Radiographic features include a dilated, radiolucent lesion typically located eccentrically within the metaphyseal portion of the bone, with fluid levels visible on magnetic resonance imaging. ",校对中... +HP:0012065,Multiple bony cystic lesions ,多发性骨囊性病变,Presence of multiple cystic changes in multiple areas or multiple bones. ,校对中... +HP:0012066,Increased urinary disaccharide excretion ,尿液双糖排泄增加,Increased concentration of disaccharide in the urine. ,校对中... +HP:0012068,Aspartylglucosaminuria ,天冬氨酰葡萄糖胺尿症,Excretion of excess amounts of aspartylglucosamine in the urine. ,校对中... +HP:0012069,Keratan sulfate excretion in urine ,尿中排泄硫酸角质素,An increased concentration of keratan sulfate in the urine. ,校对中... +HP:0012070,Chondroitin sulfate excretion in urine ,尿中排泄硫酸软骨素,An increased concentration of chondroitin sulfate (CHEBI:37397) in the urine. ,校对中... +HP:0012071,Abnormal circulating acetylcarnitine concentration ,乙酰肉碱代谢异常,"Any deviation from the normal concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. ",校对中... +HP:0012072,Aciduria ,酸性尿,"Excretion of urine with an acid pH, i.e., having an increased hydrogen ion concentration. ",校对中... +HP:0012074,Tonic pupil ,瞳孔强直,"An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation. ",校对中... +HP:0012075,Personality disorder ,人格障碍,An abnormality of mental functioning affecting the personality and behavioural tendencies of an individual and characterized by a rigid and unhealthy pattern of thinking and behavior. The definition of a personal disorder implies that the abnormality is not the result of damage or insult to the brain or from another psychiatric disorder. ,校对中... +HP:0012076,Borderline personality disorder ,边缘性人格障碍,A personality disorder characterized by impulsive behavior and unpredictable and capricious mood. Affected individuals show a liability to outbursts of emotion and an incapacity to control the behavioural explosions. ,校对中... +HP:0012078,Motor conduction block ,运动传导阻滞,Blockade of impulses at a focal site along the course of a motor axon. ,校对中... +HP:0012079,Abnormality of central motor conduction ,中枢运动传导异常,Any anomaly of the conduction of motor nerve impulses in the central nervous system. ,校对中... +HP:0012081,Enlarged cerebellum ,小脑增大,An abnormally increased size of the cerebellum compared to other brain structures. ,校对中... +HP:0012082,Cerebellar Purkinje layer atrophy ,小脑浦肯野细胞层萎缩,Atrophy of the cerebellum affecting primarily the Purkinje cell layer. ,校对中... +HP:0012083,Ubiquitin-positive cerebral inclusion bodies ,泛素阳性的大脑包涵体,Nuclear or cytoplasmic aggregates that show positive staining with antibodies against ubiquitin within cells of the brain. ,校对中... +HP:0012084,Abnormality of skeletal muscle fiber size ,骨骼肌纤维的大小异常,Any abnormality of the size of the skeletal muscle cell. ,校对中... +HP:0012086,Abnormal urinary color ,尿液颜色异常,"An abnormal color of the urine, that is, the color of the urine appears different from the usual straw-yellow color. ",校对中... +HP:0012087,Abnormal mitochondrial shape ,线粒体形状异常,An anomaly in the surface contour of mitochondria. ,校对中... +HP:0012089,Arteritis ,动脉炎,Arterial inflammation. ,校对中... +HP:0012090,Abnormal pancreas morphology ,胰腺形态异常, , +HP:0012092,Abnormality of exocrine pancreas physiology ,胰腺外分泌生理功能异常,A functional anomaly of the acinar gland portion of the pancreas that secretes digestive enzymes. ,校对中... +HP:0012093,Abnormality of endocrine pancreas physiology ,胰腺内分泌生理功能异常,A function abnormality of the endocrine pancreas. ,校对中... +HP:0012095,Multiple joint dislocation ,多关节脱位,Dislocation of many joints. ,校对中... +HP:0012098,Edema of the dorsum of feet ,足背水肿,An abnormal accumulation of fluid beneath the skin on the back of the feet. ,校对中... +HP:0012101,Decreased serum creatinine ,血清肌酐降低,An abnormally reduced amount of creatinine in the blood. ,校对中... +HP:0012103,Abnormality of the mitochondrion ,线粒体异常,"An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration. ",校对中... +HP:0012104,Parietal cortical atrophy ,顶叶皮质萎缩,Atrophy of the parietal cortex. ,校对中... +HP:0012105,Occipital cortical atrophy ,枕叶皮质萎缩,Atrophy of the occipital cortex. ,校对中... +HP:0012106,Rhizomelic leg shortening ,肢根型腿缩短,Disproportionate shortening of the proximal segment of the leg (i.e. the femur). ,校对中... +HP:0012107,Increased fibular diameter ,腓骨直径增加,Increased width of the cross sectional diameter of the fibula. ,校对中... +HP:0012108,Open angle glaucoma ,开角型青光眼,"A type of glaucoma defined by an open, normal appearing anterior chamber angle and raised intraocular pressure, ",校对中... +HP:0012109,Angle closure glaucoma ,闭角型青光眼,A type of glaucomatous optic neuropathy in an eye that has evidence of angle closure (i.e. significant iridotrabecular contact). ,校对中... +HP:0012110,Hypoplasia of the pons ,脑桥发育不良,Underdevelopment of the pons. ,校对中... +HP:0012112,Abnormal circulating corticosterone level ,血液皮质酮水平异常,An abnormality of the concentration of corticosterone in the blood. ,校对中... +HP:0012113,Abnormal circulating creatine concentration ,肌酸代谢异常,"A deviation from the normal concentration of creatine in the blood circulation. Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells. ",校对中... +HP:0012114,Endometrial carcinoma ,子宫内膜癌,"A carcinoma of the endometrium, the mucous lining of the uterus. ",校对中... +HP:0012115,Hepatitis ,肝炎,Inflammation of the liver. ,校对中... +HP:0012118,Laryngeal carcinoma ,喉癌,A carcinoma of the larynx. ,校对中... +HP:0012119,Methemoglobinemia ,高铁血红蛋白血症,"Abnormally increased levels of methemoglobin in the blood. In this form of hemoglobin, there is an oxidized ferric iron (Fe +3) rather than the reduced ferrous form (Fe 2+) that is normally found in hemoglobin. Methemoglobin has a reduced affinity for oxygen, resulting in a reduced ability to release oxygen to tissues. ",校对中... +HP:0012120,Methylmalonic aciduria ,甲基丙二酸尿症,Increased concentration of methylmalonic acid in the urine. ,校对中... +HP:0012122,Anterior uveitis ,前葡萄膜炎,Inflammation of the uveal tract in which the primary site of inflammation is the anterior chamber. ,校对中... +HP:0012123,Posterior uveitis ,后葡萄膜炎,Inflammation of the uveal tract in which the primary site of inflammation is the retina or choroid. ,校对中... +HP:0012125,Prostate cancer ,前列腺癌,A cancer of the prostate. ,校对中... +HP:0012126,Stomach cancer ,胃癌,A cancer arising in any part of the stomach. ,校对中... +HP:0012127,Uraciluria ,尿嘧啶尿症,Increased concentration of uracil in the urine. ,校对中... +HP:0012128,Basal ganglia necrosis ,基底节坏死,Death of cells in the basal ganglia. ,校对中... +HP:0012129,Abnormality of bone marrow stromal cells ,骨髓基质细胞异常, , +HP:0012132,Erythroid hyperplasia ,红系增生,"Increased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. ",校对中... +HP:0012133,Erythroid hypoplasia ,红系发育不良,"Decreased count of erythroid precursor cells, that is, erythroid lineage cells in the bone marrow. ",校对中... +HP:0012134,Dysplastic erythropoesis ,红细胞生成异常, , +HP:0012135,Abnormal granulocytopoietic cell morphology ,粒系细胞形态异常,"An anomaly of cells involved in the formation of a granulocytes, that is, of the granulocytopoietic cell. ",校对中... +HP:0012136,Dysplastic granulopoesis ,粒细胞生成异常, , +HP:0012137,Abnormal number of granulocyte precursors ,粒系前体细胞数量异常, , +HP:0012138,Granulocytic hyperplasia ,粒细胞增生, , +HP:0012139,Granulocytic hypoplasia ,粒细胞发育不全,Decreased number of granulocyte precursors in the bone marrow. ,校对中... +HP:0012142,Pancreatic squamous cell carcinoma ,胰腺鳞状细胞癌,A subtype of ductal pancreatic carcinoma that is thought to originate from squamous metaplasia of pancreatic ductal epithelium. ,校对中... +HP:0012143,Abnormal megakaryocyte morphology ,巨核细胞形态异常,"Any structural anomaly of megakaryocytes. Mature blood platelets are released from the cytoplasm of megakaryocytes, which are bone-marrow resident cells. ",校对中... +HP:0012145,Abnormality of multiple cell lineages in the bone marrow ,骨髓中多系细胞异常, , +HP:0012146,Abnormality of von Willebrand factor ,血管性血友病因子异常,Decreased quantity or activity of von Willebrand factor. Von Willebrand factor mediates the adhesion of platelets to the collagen exposed on endothelial cell surfaces. ,校对中... +HP:0012147,Reduced quantity of Von Willebrand factor ,血管性血友病因子数量减少,Decreased quantity of von Willebrand factor. ,校对中... +HP:0012148,Multiple lineage myelodysplasia ,多系骨髓增生异常,"Myelodysplasia with dysplastic changes in two or more of the myeloid lineages: erythroid, granulocytic, megakaryocytic. ",校对中... +HP:0012150,Single lineage myelodysplasia ,单系骨髓增生异常,"Abnormality/dysplasia of a single myeloid cell (erythroid, granulocytic, or megakaryocytic). ",校对中... +HP:0012151,Hemothorax ,血胸,The presence of blood in the pleural space. ,校对中... +HP:0012152,Foveoschisis ,黄斑劈裂,Splitting of the retinal layers in the macula. ,校对中... +HP:0012153,Hypotriglyceridemia ,低甘油三酯血症,An decrease in the level of triglycerides in the blood. ,校对中... +HP:0012155,Decreased corneal sensation ,角膜感觉减退,Reduced ability of the cornea to respond to stimulation. ,校对中... +HP:0012156,Hemophagocytosis ,噬血细胞作用,"Phagocytosis by macrophages of erythrocytes, leukocytes, platelets, and their precursors in bone marrow and other tissues. ",校对中... +HP:0012157,Subcortical cerebral atrophy ,皮层下脑萎缩,"Atrophy of the cerebral subcortical white and gray matter, termed subcortical atrophy, reflects loss of nerve cells in the basal ganglia or fibers in the deep white matter. ",校对中... +HP:0012158,Carotid artery dissection ,颈动脉夹层,A separation (dissection) of the layers of the carotid artery wall. ,校对中... +HP:0012159,Internal carotid artery dissection ,颈内动脉夹层,A separation (dissection) of the layers of the internal carotid artery wall. ,校对中... +HP:0012163,Carotid artery dilatation ,颈动脉扩张,A dilatation (balooning or bulging out of the vessel wall) of a carotid artery. ,校对中... +HP:0012164,Asterixis ,扑翼样震颤,"A clinical sign indicating a lapse of posture and is usually manifest by a bilateral flapping tremor at the wrist, metacarpophalangeal, and hip joints. ",校对中... +HP:0012165,Oligodactyly ,少指（趾）畸形,A developmental defect resulting in the presence of fewer than the normal number of digits. ,校对中... +HP:0012166,Skin-picking ,皮肤剔除,Repetitive and compulsive picking of skin which results in tissue damage. ,校对中... +HP:0012167,Hair-pulling ,拔毛癖,"A phenomenon in which persons repetitively pull out their own hair, resulting in noticeable hair loss. ",校对中... +HP:0012168,Head-banging ,撞头,Habitual striking of one's own head against a surface such as a mattress or wall of a crib. ,校对中... +HP:0012169,Self-biting ,自咬,Habitual biting of one's own body. ,校对中... +HP:0012170,Nail-biting ,咬指甲,Habitual biting of one's own fingernails. ,校对中... +HP:0012171,Stereotypical hand wringing ,刻板性手部扭动,Habitual clasping and squeezing of the hands. ,校对中... +HP:0012172,Stereotypical body rocking ,刻板性身体摇摆,Habitual repetitive movement of the body. ,校对中... +HP:0012173,Orthostatic tachycardia ,体位性心动过速,An increase in heart rate with standing of 30 beats per minute or more. ,校对中... +HP:0012174,Glioblastoma multiforme ,多形性胶质母细胞瘤,"A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation. ",校对中... +HP:0012175,Resistance to activated protein C ,活化蛋白C抵抗,Poor anticoagulant response to activated protein C. A plasma is termed 'APC resistant' when the addition of exogenous APC fails to prolong its clotting time in an activated partial thromboplastin time assay. ,校对中... +HP:0012176,Abnormal natural killer cell morphology ,自然杀伤细胞形态异常,"An anomaly of the natural killer cell, which is a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors. It also regulates immune responses via cytokine release and direct contact with other cells. ",校对中... +HP:0012177,Abnormal natural killer cell physiology ,自然杀伤细胞生理功能异常,A functional anomaly of the natural killer cell. ,校对中... +HP:0012178,Reduced natural killer cell activity ,自然杀伤细胞活性降低,Reduced ability of the natural killer cell to function in the adaptive immune response. ,校对中... +HP:0012179,Craniofacial dystonia ,头面部肌张力障碍,"A form of focal dystonia affecting the face and especially the jaw that is induced by the act of speaking. It is an involuntary contraction of the masticatory muscles, resulting in dysarthria or dysphagia. ",校对中... +HP:0012180,Cystic medial necrosis ,囊性中层坏死,"A disorder of large arteries, in particular the aorta, characterized by an accumulation of basophilic ground substance in the media with cyst-like lesions associated with degenerative changes of collagen, elastin and the vascular smooth muscle cells. ",校对中... +HP:0012181,Entrapment neuropathy ,压迫性神经病,Malfunction of a peripheral nerve resulting from mechanical compression of the nerve roots from internal or external causes and leading to a conduction block or axonal loss. ,校对中... +HP:0012182,Oropharyngeal squamous cell carcinoma ,口咽部鳞状细胞癌,A squamous cell carcinoma that originates in the oropharnyx. ,校对中... +HP:0012183,Hyperplastic colonic polyposis ,增生性结肠息肉病,Presence of multiple hyperplastic polyps in the colon. Hyperplastic polyps are generally about 5 mm in size and show hyperplastic mucosal proliferation. ,校对中... +HP:0012184,Increased HDL cholesterol concentration ,高α脂蛋白血症,An elevated concentration of high-density lipoprotein cholesterol (HDL) in the blood. ,校对中... +HP:0012185,Constrictive median neuropathy ,压迫性正中神经病变,"Injury to the median nerve caused by its entrapment at the wrist as it traverses through the carpal tunnel. Clinically, constrictive median neuropathy is characterized by pain, paresthesia, and weakness in the median nerve distribution of the hand. ",校对中... +HP:0012187,Increased erythrocyte protoporphyrin concentration ,红细胞原卟啉浓度增高,An increased concentration of protoporphyrins in erythrocytes. ,校对中... +HP:0012188,Hyperemesis gravidarum ,妊娠剧吐,"Excessive vomiting in early pregnancy, leading to the loss of 5% or more of body weight. ",校对中... +HP:0012189,Hodgkin lymphoma ,霍奇金淋巴瘤,A type of lymphoma characterized microscopically by multinucleated Reed-Sternberg cells. ,校对中... +HP:0012190,T-cell lymphoma ,T细胞淋巴瘤,A type of lymphoma that originates in T-cells. ,校对中... +HP:0012191,B-cell lymphoma ,B细胞淋巴瘤,A type of lymphoma that originates in B-cells. ,校对中... +HP:0012192,Cutaneous T-cell lymphoma ,皮肤T细胞淋巴瘤,A type of T-cell lymphoma that exhibits malignant infiltration of the skin. ,校对中... +HP:0012194,Episodic hemiplegia ,偏瘫发作,"Transient episodes of weakness of the arm, leg, and in some cases the face on one side of the body. ",校对中... +HP:0012196,Cheyne-Stokes respiration ,潮式呼吸,"An abnormal pattern of respiration characterized by cycles of respiration that are increasingly deeper then shallower with possible periods of apnea. Affected patients may display a 10 to 20 second episode of hypoventilation or apnea, followed by respiration of increased depth and frequency over the course of about one minute. The cycle repeats every 45 seconds to 3 minutes. ",校对中... +HP:0012197,Insulinoma ,胰岛素瘤,A type of tumor of the pancreatic beta cells that secretes excess insulin and can result in hypoglycemia. ,校对中... +HP:0012198,Juvenile colonic polyposis ,幼年性结肠息肉病,The presence of more than 5 juvenile polyps of the colon. The term juvenile polyps refer to a special histopathology and not the age of onset as the polyp might be diagnosed at all ages. The juvenile polyp has a spherical appearance and is microscopically characterized by overgrowth of an oedematous lamina propria with inflammatory cells and cystic glands. ,校对中... +HP:0012202,Increased serum bile acid concentration ,血清胆汁酸浓度增高,An increase in the concentration of bile acid in the blood. ,校对中... +HP:0012203,Onychomycosis ,甲癣,"A fungal infection of the toenails or fingernails that tends to cause the nails to thicken, discolor, disfigure, and split. ",校对中... +HP:0012204,Recurrent vulvovaginal candidiasis ,复发性外阴阴道念珠菌病,"Recurrent infection involving the vulva, vagina, and adjacent crural areas, whereby the causative agent belongs to the genus Candida. ",校对中... +HP:0012205,Globozoospermia ,圆头精子症,Any structural anomaly of the acrosome resulting in a round sperm head. ,校对中... +HP:0012206,Abnormal sperm motility ,精子运动异常,An anomaly of the mobility of ejaculated sperm. ,校对中... +HP:0012207,Reduced sperm motility ,精子活力降低,An abnormal reduction in the mobility of ejaculated sperm. ,校对中... +HP:0012208,Immotile sperm ,不动精子症,A lack of mobility of ejaculated sperm. ,校对中... +HP:0012209,Juvenile myelomonocytic leukemia ,青少年型粒单核细胞白血病,Juvenile myelomonocytic leukemia (JMML) is a lethal myeloproliferative disease of young childhood characterized clinically by overproduction of myelomonocytic cells and by the in vitro phenotype of hematopoietic progenitor hypersensitivity to granulocyte-macrophage colony-stimulating factor. ,校对中... +HP:0012210,Abnormal renal morphology ,肾形态异常,Any structural anomaly of the kidney. ,校对中... +HP:0012211,Abnormal renal physiology ,肾脏生理异常,An abnormal functionality of the kidney. ,校对中... +HP:0012213,Decreased glomerular filtration rate ,肾小球滤过率下降,An abnormal reduction in the volume of fluid filtered out of plasma through glomerular capillary walls into Bowman's capsules per unit of time. ,校对中... +HP:0012215,Testicular microlithiasis ,睾丸微小结石症,The deposition of calcium phosphate microliths within the seminiferous tubules. ,校对中... +HP:0012217,Increased urinary porphobilinogen ,尿液胆色素原增高,Increased concentration of porphobilinogen in the urine. ,校对中... +HP:0012218,Alveolar soft part sarcoma ,腺泡状软组织肉瘤,"A type of soft tissue sarcoma with a histological appearance reminiscent of alveoli because of its reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. ",校对中... +HP:0012219,Erythema nodosum ,结节性红斑,"An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. ",校对中... +HP:0012221,Pretibial blistering ,胫前起疱,A type of blistering that affects the skin of the tibial region. ,校对中... +HP:0012222,Arachnoid hemangiomatosis ,蛛网膜血管瘤病,The presence of multiple hemangiomas in the arachnoid. ,校对中... +HP:0012223,Splenic rupture ,脾破裂,A breach of the capsule of the spleen. ,校对中... +HP:0012227,Urethral stricture ,尿道狭窄,Narrowing of the urethra associated with inflammation or scar tissue. ,校对中... +HP:0012229,CSF pleocytosis ,脑脊液细胞增多,An increased white blood cell count in the cerebrospinal fluid. ,校对中... +HP:0012230,Rhegmatogenous retinal detachment ,孔源性视网膜脱离,"A type of retinal detachment associated with a retinal tear, that is, with a break in the retina that allows fluid to pass from the vitreous space into the subretinal space between the sensory retina and the retinal pigment epithelium. ",校对中... +HP:0012231,Exudative retinal detachment ,渗出性视网膜脱离,A type of retinal detachment arising from damage to the outer blood-retinal barrier that allows fluid to access the subretinal space and separate the neurosensory retina from the retinal pigment epithelium. ,校对中... +HP:0012232,Shortened QT interval ,QT间期缩短,Decreased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG). ,校对中... +HP:0012233,Intramuscular hematoma ,肌内血肿,Blood clot formed within muscle tissue following leakage of blood into the tissue. ,校对中... +HP:0012236,Elevated sweat chloride ,汗液氯化物浓度升高,An increased concentration of chloride in the sweat. ,校对中... +HP:0012237,Urocanic aciduria ,尿刊酸尿症,An increased concentration of urocanic acid in the urine. ,校对中... +HP:0012238,Increased circulating chylomicron concentration ,高乳糜微粒血症,"Increased plasma concentrations of chylomicrons, the large lipid droplet (up to 100 mm in diameter) of reprocessed lipid synthesized in epithelial cells of the small intestine and containing triacylglycerols, cholesterol esters, and several apolipoproteins. ",校对中... +HP:0012239,Atransferrinemia ,转铁蛋白缺乏血症,"Absence of transferrin, a protein that transports iron, in the blood. ",校对中... +HP:0012240,Increased intramyocellular lipid droplets ,肌细胞内脂滴增加,An abnormal increase in intracellular lipid droplets In a muscle. The number and size of these drops can increase with somd disorders of lipid metabolism affecting muscle. See PMID 20691590 for histological images. ,校对中... +HP:0012241,Levator palpebrae superioris atrophy ,上睑提肌萎缩,"Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. ",校对中... +HP:0012242,Superior rectus atrophy ,眼上直肌萎缩,"Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. ",校对中... +HP:0012243,Abnormal reproductive system morphology ,生殖系统形态异常,A structural or developmental anomaly of any of the tissues involved in the genital system. ,校对中... +HP:0012244,Abnormal sex determination ,性别决定异常,Anomaly of primary or secondary sexual development or characteristics. ,校对中... +HP:0012245,Sex reversal ,性反转,Development of the reproductive system is inconsistent with the chromosomal sex. ,校对中... +HP:0012246,Oculomotor nerve palsy ,动眼神经麻痹,Reduced ability to control the movement of the eye associated with damage to the third cranial nerve (the oculomotor nerve). ,校对中... +HP:0012248,Prolonged PR interval ,PR间期延长,Increased time for the PR interval (beginning of the P wave to the beginning of the QRS complex). ,校对中... +HP:0012250,ST segment depression ,ST段压低,An electrocardiographic anomaly in which the ST segment is observed to be located inferior to the isoelectric line. ,校对中... +HP:0012251,ST segment elevation ,ST段抬高,An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. ,校对中... +HP:0012252,Abnormal respiratory system morphology ,呼吸系统形态学异常,A structural anomaly of the respiratory system. ,校对中... +HP:0012254,Ewing sarcoma ,尤文肉瘤,"A malignant tumor of the bone which always arises in the medullary tissue, occurring more often in cylindrical bones. ",校对中... +HP:0012255,Dynein arm defect of respiratory motile cilia ,能动纤毛动力蛋白臂缺陷,An anomaly of the dynein arms of motile cilia. This feature is usually appreciated by electron microscopy. ,校对中... +HP:0012256,Absent outer dynein arms ,外动力蛋白臂缺失,"Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. ",校对中... +HP:0012257,Absent inner dynein arms ,内在动力蛋白臂缺失,"Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. ",校对中... +HP:0012258,Abnormal axonemal organization of respiratory motile cilia ,运动纤毛轴丝异常排列,"Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. ",校对中... +HP:0012259,Absent inner and outer dynein arms ,内、外动力蛋白臂缺如,"Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. ",校对中... +HP:0012260,Abnormal central microtubular pair morphology of respiratory motile cilia ,运动纤毛的中央成对微管形态异常,A structural anomaly of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. ,校对中... +HP:0012262,Abnormal ciliary motility ,纤毛运动障碍,Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. ,校对中... +HP:0012263,Immotile cilia ,不动纤毛, , +HP:0012264,Absent central microtubular pair morphology of respiratory motile cilia ,运动纤毛细胞中央成对微管形态缺失,Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. ,校对中... +HP:0012265,Ciliary dyskinesia ,纤毛运动异常,A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. ,校对中... +HP:0012266,T-wave alternans ,T波交替,A periodic beat-to-beat variation in the amplitude or shape of the T wave in an EKG. ,校对中... +HP:0012270,Decreased muscle glycogen content ,肌糖原含量减少,A decreased amount of glycogen in muscle tissue. ,校对中... +HP:0012271,Episodic upper airway obstruction ,阵发性上气道阻塞,Intermittent episodes of increased resistance to the passage of air in the upper airway. ,校对中... +HP:0012272,J wave ,J波,"The J wave is a positive convex deflection that occurs at the junction of the QRS complex and ST segment, the J-point. ",校对中... +HP:0012273,Increased carotid artery intimal medial thickness ,颈动脉内膜及中膜增厚,An increase in the combined thickness of the intima and media of the carotid artery. ,校对中... +HP:0012275,Autosomal dominant inheritance with maternal imprinting ,母源印记基因常染色体显性遗传,A type of autosomal dominant inheritance involving a gene that is imprinted with maternal silencing. ,校对中... +HP:0012276,Digital flexor tenosynovitis ,手指屈肌腱鞘炎,"Inflammation of the flexor digitorum tendon, often associated with the Kanavel signs: (i) finger held in slight flexion, (ii) fusiform swelling, (iii) tenderness along the flexor tendon sheath, and (iv) pain with passive extension of the digit. ",校对中... +HP:0012277,Hypoglycinemia ,低甘氨酸血症,An abnormally reduced concentration of glycine in the blood. ,校对中... +HP:0012278,Abnormal circulating serine concentration ,丝氨酸代谢异常,Any deviation from the normal concentration of serine in the blood circulation. ,校对中... +HP:0012279,Hyposerinemia ,低丝氨酸血症,Reduced concentration of serine in the blood. ,校对中... +HP:0012280,Hepatic amyloidosis ,肝淀粉样变性,A form of amyloidosis that affects the liver. ,校对中... +HP:0012282,Morbilliform rash ,麻疹样皮疹,An exanthema consisting of widespread pink-to-red macules (flat spots of 2-10 mm in diameter) or papules (red bumps) that blanch with pressure. The macules and papules may cluster and merge to form sheets over several days. ,校对中... +HP:0012283,Small distal femoral epiphysis ,股骨远端骨骺小,Reduced size of the Distal epiphysis of femur. ,校对中... +HP:0012284,Small proximal tibial epiphyses ,胫骨近端骨骺小,Reduced size of the proximal epiphysis of the tibia. ,校对中... +HP:0012285,Abnormal hypothalamus physiology ,下丘脑生理异常,An abnormal functionality of the hypothalamus. ,校对中... +HP:0012286,Abnormal hypothalamus morphology ,下丘脑形态异常,Any structural anomaly of the hypothalamus. ,校对中... +HP:0012287,Hypothalamic luteinizing hormone-releasing hormone deficiency ,下丘脑促黄体生成素释放激素缺乏,Decreased secretion of luteinizing hormone-releasing hormone by the hypothalamus. ,校对中... +HP:0012288,Neoplasm of head and neck ,头颈部肿瘤,"A tumor (abnormal growth of tissue) of the head and neck region with origin in the lip, oral cavity, nasal cavity, paranasal sinuses, pharynx, or larynx. ",校对中... +HP:0012294,Abnormal occipital bone morphology ,枕骨形态异常,Abnormality of the occipital bone of the skull. ,校对中... +HP:0012296,Slender distal phalanx of finger ,末节指骨细长,Reduced diameter of the distal phalanx of finger. ,校对中... +HP:0012297,Slender proximal phalanx of finger ,近节指骨细长,Reduced diameter of the proximal phalanx of finger. ,校对中... +HP:0012299,Long distal phalanx of finger ,末节指骨长,Increased length of the distal phalanx of finger. ,校对中... +HP:0012300,Ureteral agenesis ,输尿管未发育,Failure of the ureter to undergo development. ,校对中... +HP:0012301,Type II transferrin isoform profile ,II型转铁蛋白异构体谱,Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation. ,校对中... +HP:0012302,Herpes simplex encephalitis ,单纯疱疹病毒性脑炎,A severe virus infection of the central nervous system by the herpes simplex virus (HSV). ,校对中... +HP:0012303,Abnormal aortic arch morphology ,主动脉弓形态异常,An anomaly of the arch of aorta. ,校对中... +HP:0012304,Hypoplastic aortic arch ,主动脉弓发育不全,Underdevelopment of the arch of aorta. ,校对中... +HP:0012305,Coarctation of the descending aortic arch ,降主动脉弓缩窄,Narrowing or constriction of the aorta localized to the region of the descending trunk of arch of aorta. ,校对中... +HP:0012307,Spatulate ribs ,铲状肋骨,Ribs that are increased in width and taper to the posterior ends. ,校对中... +HP:0012308,Decreased serum complement C9 ,血清补体C9降低,A reduced level of the complement component C9 in circulation. ,校对中... +HP:0012309,Cutaneous amyloidosis ,皮肤淀粉样变,The presence of amyloid deposition in the superficial dermis. ,校对中... +HP:0012311,Monocytosis ,单核细胞增多症,An increased number of circulating monocytes. ,校对中... +HP:0012312,Monocytopenia ,单核细胞减少症,An decreased number of circulating monocytes. ,校对中... +HP:0012313,Heberden's node ,Heberden结节,Bony swelling of the distal interphalangeal joint (DIP) associated with the formation of osteophytes (calcific spurs) of the articular (joint) cartilage that are visible radiographically. ,校对中... +HP:0012315,Histiocytoma ,组织细胞瘤,A neoplasm containing histiocytes. ,校对中... +HP:0012317,Sacroiliac arthritis ,骶髂关节炎,"Inflammation of the sacroiliac joint, generally accompanied by lower back pain. ",校对中... +HP:0012321,D-2-hydroxyglutaric aciduria ,D-2-羟基戊二酸尿症,An increased concentration of 2-hydroxyglutaric acid in the urine. ,校对中... +HP:0012322,Perifolliculitis ,毛囊周炎,Inflammation surrounding hair follicles. ,校对中... +HP:0012324,Myeloid leukemia ,髓系白血病,"A leukemia that originates from a myeloid cell, that is the blood forming cells of the bone marrow. ",校对中... +HP:0012325,Chronic myelomonocytic leukemia ,慢性粒单核细胞白血病,"A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement. ",校对中... +HP:0012330,Pyelonephritis ,肾盂肾炎,"An inflammation of the kidney involving the parenchyma of kidney, the renal pelvis and the kidney calices. ",校对中... +HP:0012332,Abnormal autonomic nervous system physiology ,自主神经系统生理功能异常,A functional abnormality of the autonomic nervous system. ,校对中... +HP:0012334,Extrahepatic cholestasis ,肝外胆汁淤积,Impairment of bile flow due to obstruction in large bile ducts outside the liver. ,校对中... +HP:0012340,Decreased resting energy expenditure ,静息能量消耗降低,A reduction in the number of calories used per unit time. ,校对中... +HP:0012343,Decreased circulating ferritin concentration ,血清铁蛋白降低,"Abnormally reduced concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood. ",校对中... +HP:0012345,Abnormal glycosylation ,糖基化异常,"An anomaly of a glycosylation process, i.e., a process involved in the covalent attachment of a glycosyl residue to a substrate molecule. ",校对中... +HP:0012347,Abnormal protein N-linked glycosylation ,蛋白质N-联糖基化异常,"An anomaly of protein N-linked glycosylation, i.e., an abnormality of the protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via a nitrogen atom in an amino acid residue in a protein. ",校对中... +HP:0012348,Decreased galactosylation of N-linked protein glycosylation ,N-联蛋白糖基的半乳糖基化降低,A reduction in the amount of galactose residues of N-glycans. ,校对中... +HP:0012358,Abnormal protein O-linked glycosylation ,蛋白质O-联糖基化异常,"An anomaly of protein O-linked glycosylation, i.e., of the process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of a serine or threonine residue. ",校对中... +HP:0012363,Decreased sialylation of O-linked protein glycosylation ,O联蛋白糖基的唾液酸化降低,An reduced addition of sialic acids to O-linked glycans. ,校对中... +HP:0012364,Decreased urinary potassium ,尿钾降低,A decreased concentration of potassium(1+) in the urine. ,校对中... +HP:0012365,Hypophosphaturia ,低磷酸盐尿,An abnormally decreased phosphate concentration in the urine. ,校对中... +HP:0012366,Basilar invagination ,颅底凹陷,Projection of the tip of the dens more than 5 mm above a line joining the hard palate to the posterior lip of the foramen magnum (Chamberlain's line) or the tip of the dens is greater than 7 mm above McGregor's line (the back of the hard palate to the lowest point of the occipital squama). ,校对中... +HP:0012368,Flat face ,扁平脸,Absence of concavity or convexity of the face when viewed in profile. ,校对中... +HP:0012370,Prominence of the zygomatic bone ,颧骨突出,"Large or prominent malar surface of the zygomatic bone of the skull, which is convex and forms the prominence of the 'cheek bones'. ",校对中... +HP:0012371,Hyperplasia of midface ,中面部肥大,"Abnormally anterior positioning of the infraorbital and perialar regions, or increased convexity of the face, or increased nasolabial angle. The midface includes the maxilla, the cheeks, the zygomas, and the infraorbital and perialar regions of the face ",校对中... +HP:0012372,Abnormal eye morphology ,眼部形态异常,"A structural anomaly of the globe of the eye, or bulbus oculi. ",校对中... +HP:0012373,Abnormal eye physiology ,眼部生理异常,A functional anomaly of the eye. ,校对中... +HP:0012375,Chemosis ,球结膜水肿,Edema (swelling) of the bulbar conjunctiva. ,校对中... +HP:0012376,Microphakia ,小晶状体,Abnormal smallness of the lens. ,校对中... +HP:0012377,Hemianopia ,偏盲,Partial or complete loss of vision in one half of the visual field of one or both eyes. ,校对中... +HP:0012378,Fatigue ,疲乏,A subjective feeling of tiredness characterized by a lack of energy and motivation. ,校对中... +HP:0012379,Abnormal enzyme/coenzyme activity ,酶/辅酶活性异常,An altered ability of any enzyme or their cofactors to act as catalysts. This term includes changes due to altered levels of an enzyme. ,校对中... +HP:0012380,Reduced carnitine O-palmitoyltransferase level ,肉毒碱棕榈酰转移酶活性降低,"Reduced carnitine O-palmitoyltransferase level, leading to a reduced activity of the reaction: palmitoyl-CoA + L-carnitine = CoA + L-palmitoylcarnitine. ",校对中... +HP:0012382,Left-to-right shunt ,左向右分流,Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from the left side of the heart to the right. ,校对中... +HP:0012383,Bidirectional shunt ,双向分流,Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system from both right side of the heart to the left and vice versa. ,校对中... +HP:0012384,Rhinitis ,鼻炎,Inflammation of the nasal mucosa with nasal congestion. ,校对中... +HP:0012385,Camptodactyly ,指（趾）关节屈曲,The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension. ,校对中... +HP:0012386,Absent hallux ,拇趾缺失,"Aplasia of the hallux, that is, a development defect such that the big toe does not develop. ",校对中... +HP:0012387,Bronchitis ,支气管炎,Inflammation of the large airways in the lung including any part of the bronchi from the primary bronchi to the tertiary bronchi. ,校对中... +HP:0012389,Appendicular hypotonia ,四肢肌张力低下,Muscular hypotonia of one or more limbs. ,校对中... +HP:0012390,Anal fissure ,肛裂,"A small tear in the thin, moist tissue (mucosa) that lines the anus. It appears as a crack or slit in the mucous membrane of the anus. ",校对中... +HP:0012391,Hyporeflexia of upper limbs ,上肢反射减弱,"Reduced intensity of muscle tendon reflexes in the upper limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping. ",校对中... +HP:0012393,Allergy ,过敏,An allergy is an immune response or reaction to substances that are usually not harmful. ,校对中... +HP:0012397,Aortic atherosclerotic lesion ,早发冠状动脉粥样硬化,The presence of atheromas or atherosclerotic plaques in the aorta. ,校对中... +HP:0012398,Peripheral edema ,周围性水肿,An abnormal accumulation of interstitial fluid in the soft tissues of the limbs. ,校对中... +HP:0012400,Abnormal aldolase level ,醛缩酶水平异常,"An abnormal concentration of aldolase in the serum. Aldolase is an enzyme responsible for converting fructose 1,6-bisphosphate into the triose phosphates dihydroxyacetone phosphate and glyceraldehyde 3-phosphate. ",校对中... +HP:0012401,Abnormal urine alpha-ketoglutarate concentration ,尿α-酮戊二酸盐浓度异常,A deviation from normal of the concentration of 2-oxoglutaric acid in the urine. ,校对中... +HP:0012402,Increased urine alpha-ketoglutarate concentration ,尿α-酮戊二酸浓度增高,A greater than normal concentration of 2-oxoglutaric acid in the urine. ,校对中... +HP:0012403,Decreased urine alpha-ketoglutarate concentration ,尿α-酮戊二酸盐浓度降低,A lower than normal concentration of 2-oxoglutaric acid in the urine. ,校对中... +HP:0012405,Hypocitraturia ,低枸橼酸尿,A lower than normal concentration of citrate(3-) in the urine. ,校对中... +HP:0012407,Scissor gait ,剪刀步态,"A type of spastic paraparetic gait in which the muscle tone in the adductors is marked. It is characterized by hypertonia and flexion in the legs, hips and pelvis accompanied by extreme adduction leading to the knees and thighs hitting, or sometimes even crossing, in a scissors-like movement. The opposing muscles (abductors) become comparatively weak from lack of use. ",校对中... +HP:0012408,Medullary nephrocalcinosis ,肾髓质钙化症,The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney). ,校对中... +HP:0012409,Cortical nephrocalcinosis ,肾皮质钙化,The deposition of calcium salts in the parenchyma of the renal cortex (the outer portion of the kidney between the renal capsule and the renal medulla). ,校对中... +HP:0012410,Pure red cell aplasia ,纯红细胞再生障碍性贫血,"A type of anemia resulting from suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production. Erythroblasts are virtually absent in bone marrow; however, leukocyte and platelet production show little or no reduction. ",校对中... +HP:0012411,Premature pubarche ,阴毛早现,The onset of growth of pubic hair at an earlier age than normal. ,校对中... +HP:0012412,Premature adrenarche ,肾上腺功能早现,Onset of adrenarche at an earlier age than usual. ,校对中... +HP:0012415,Abnormal blood gas level ,血气水平异常,An abnormality of the partial pressure of oxygen or carbon dioxide in the arterial blood. ,校对中... +HP:0012416,Hypercapnia ,高碳酸血症,Abnormally elevated blood carbon dioxide (CO2) level. ,校对中... +HP:0012417,Hypocapnia ,低碳酸血症,Abnormally reduced blood carbon dioxide (CO2) level. ,校对中... +HP:0012418,Hypoxemia ,低氧血症,An abnormally low level of blood oxygen. ,校对中... +HP:0012420,Meconium stained amniotic fluid ,羊水污染、羊水混浊,Amniotic fluid containing the earliest stools of a mammalian infant. ,校对中... +HP:0012424,Chorioretinitis ,脉络膜视网膜炎,An inflammation of the choroid and retina. ,校对中... +HP:0012426,Optic disc drusen ,视盘玻璃疣,"Optic disc drusen are acellular, calcified deposits within the optic nerve head. Optic disc drusen are congenital and developmental anomalies of the optic nerve head, representing hyaline-containing bodies that, over time, appear as elevated, lumpy irregularities on the anterior portion of the optic nerve. ",校对中... +HP:0012427,Excessive femoral anteversion ,股骨前倾角过大,"An increased degree of femoral version, which is defined as the angular difference between axis of femoral neck and transcondylar axis of the knee. Thus, femoral anteversion is an inward twisting of the femur that causes the knees and feet to turn inward. ",校对中... +HP:0012428,Prominent calcaneus ,跟骨突出,"Protruding heel bone, or calcaneus. ",校对中... +HP:0012429,Aplasia/Hypoplasia of the cerebral white matter ,脑白质发育缺陷/发育不全,Absence or underdevelopment of the cerebral white matter. ,校对中... +HP:0012430,Cerebral white matter hypoplasia ,脑白质发育不良,Underdevelopment of the cerebral white matter. ,校对中... +HP:0012431,Episodic fatigue ,情景疲劳,Intermittent and recurrent bouts of a subjective feeling of tiredness characterized by a lack of energy and motivation. ,校对中... +HP:0012432,Chronic fatigue ,慢性疲劳,Subjective feeling of tiredness characterized by a lack of energy and motivation that persists for six months or longer. ,校对中... +HP:0012433,Abnormal social behavior ,社会行为异常,An abnormality of actions or reactions of a person taking place during interactions with others. ,校对中... +HP:0012434,Delayed social development ,社交发育迟缓,A failure to meet one or more age-related milestones of social behavior. ,校对中... +HP:0012435,Ventral shortening of foreskin ,腹侧包皮短缩,Reduction in length of the ventral (lower) skin of prepuce of penis. ,校对中... +HP:0012440,Abnormal biliary tract morphology ,胆道形态异常,A structural abnormality of the biliary tree. ,校对中... +HP:0012443,Abnormality of brain morphology ,脑形态学异常,"A structural abnormality of the brain, which has as its parts the forebrain, midbrain, and hindbrain. ",校对中... +HP:0012444,Brain atrophy ,脑萎缩,Partial or complete wasting (loss) of brain tissue that was once present. ,校对中... +HP:0012446,Decreased CSF 5-methyltetrahydrofolate concentration ,脑脊液5-甲基四氢叶酸降低,A reduced concentration of 5-methyltetrahydrofolate(2-) in the cerebrospinal fluid (CSF). 5-methyltetrahydrofolate is the active folate metabolite. ,校对中... +HP:0012447,Abnormal myelination ,髓鞘异常,Any anomaly in the process by which myelin sheaths are formed and maintained around neurons. ,校对中... +HP:0012448,Delayed myelination ,髓鞘化延迟,Delayed myelination. ,校对中... +HP:0012449,Sacroiliac joint synovitis ,骶髂关节滑膜炎,Inflammation of the synovial membrane of the sacroiliac joint. ,校对中... +HP:0012450,Chronic constipation ,慢性便秘,"Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard stools, and a sensation of anorectal obstruction or incomplete defecation. ",校对中... +HP:0012452,Restless legs ,不宁腿,A feeling of uneasiness and restlessness in the legs after going to bed (sometimes causing insomnia). ,校对中... +HP:0012453,Bilateral wrist flexion contracture ,双侧腕关节弯曲挛缩,A chronic loss of wrist joint motion on the right and left sides. ,校对中... +HP:0012454,Unilateral wrist flexion contracture ,单侧腕关节屈曲挛缩,A chronic loss of wrist joint motion on one side only. ,校对中... +HP:0012457,Medial calcification of medium-sized arteries ,中型动脉内侧钙化,"Calcification, that is, pathological deposition of calcium salts in the tunica media of medium-sized (muscular or distributive) arteries. ",校对中... +HP:0012462,Chin myoclonus ,下颌肌阵挛,Involuntary and irregular twitches of the chin. ,校对中... +HP:0012463,Elevated transferrin saturation ,转铁蛋白饱和度升高,An above normal level of saturation of serum transferrin with iron. ,校对中... +HP:0012464,Decreased transferrin saturation ,转铁蛋白饱和度降低,A below normal level of saturation of serum transferrin with iron. ,校对中... +HP:0012465,Elevated hepatic iron concentration ,肝内铁浓度升高,An increased level of iron in liver tissues. ,校对中... +HP:0012468,Chronic acidosis ,慢性酸中毒,Longstanding abnormal acid accumulation or depletion of base. ,校对中... +HP:0012469,Infantile spasms ,婴儿痉挛,"Infantile spasms represent a subset of ""epileptic spasms"". Infantile Spasms are epileptic spasms starting in the first year of life (infancy). ",校对中... +HP:0012470,Setting-sun eye phenomenon ,落日眼现象,"An ophthalmologic sign in young children resulting from upward-gaze paresis. In this condition, the eyes appear driven downward, the sclera may be seen between the upper eyelid and the iris, and part of the lower pupil may be covered by the lower eyelid. ",校对中... +HP:0012471,Thick vermilion border ,厚红唇缘,Increased width of the skin of vermilion border region of upper lip. ,校对中... +HP:0012472,Eclabion ,唇外翻,"A turning outward of the lip or lips, that is, eversion of the lips. ",校对中... +HP:0012473,Tongue atrophy ,舌萎缩,Wasting of the tongue. ,校对中... +HP:0012474,Carotid artery occlusion ,颈动脉闭塞,Complete obstruction of a carotid artery. ,校对中... +HP:0012476,Decreased specific pneumococcal antibody level ,特异性肺炎球菌抗体水平降低,The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against pneumococci. ,校对中... +HP:0012477,Vocal tremor ,声音震颤,"A wavering, unsteady voice that reflects involuntary and approximately sinusoidal oscillation of motor unit firings of laryngeal muscles. Vocal tremor results in low frequency modulations of voice frequency or amplitude and intermittent voice instability. ",校对中... +HP:0012478,Temporomandibular joint ankylosis ,颞下颌关节强直,"Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. ",校对中... +HP:0012479,Temporomandibular joint crepitus ,颞下颌关节弹响,"Noises from the temporomandibular joint during mandibular movement (e.g., chewing). Temporomandibular joint crepitus is often described as a clicking, popping, grating sound. ",校对中... +HP:0012480,Abnormal cerebral vein morphology ,脑静脉形态异常,An anomaly of cerebral veins. ,校对中... +HP:0012484,Abnormal dense granules ,致密颗粒异常,"Defective structure, size or content of dense granules, platelet organelles that contain granules proaggregatory factors such as adenosine diphosphate (ADP), adenosine triphosphate (ATP), ionized calcium, histamine and serotonin. ",校对中... +HP:0012487,Cerebellopontine angle arachnoid cyst ,桥小脑角蛛网膜囊肿,An arachnoid cyst located at the margin of the cerebellum and pons. ,校对中... +HP:0012488,Intraventricular arachnoid cyst ,脑室内蛛网膜囊肿,An arachnoid cyst located within the ventricular system. ,校对中... +HP:0012489,Suprasellar arachnoid cyst ,鞍上蛛网膜囊肿,"An arachnoid cyst that progressively enlarges from an abnormality in the membrane of Liliequist or in the interpeduncular cistern, and typically, expands from the prepontine space, displacing the floor of the third ventricle upwards, the pituitary stalk and optic chiasm upwards and forwards, and the mammillary bodies upwards and backwards. ",校对中... +HP:0012490,Panniculitis ,脂膜炎,Inflammation of adipose tissue. ,校对中... +HP:0012492,Cerebral artery stenosis ,脑动脉狭窄,Narrowing or constriction of the inner surface (lumen) of a cerebral artery. ,校对中... +HP:0012493,Middle cerebral artery stenosis ,大脑中动脉狭窄,Narrowing or constriction of the inner surface (lumen) of the middle cerebral artery. ,校对中... +HP:0012494,Anterior cerebral artery stenosis ,大脑前动脉狭窄,Narrowing or constriction of the inner surface (lumen) of the anterior cerebral artery. ,校对中... +HP:0012495,Posterior cerebral artery stenosis ,大脑后动脉狭窄,Narrowing or constriction of the inner surface (lumen) of the posterior cerebral artery. ,校对中... +HP:0012496,Reduced maximal inspiratory pressure ,最大吸气压降低,A decrease in the maximum amount of negative pressure a person can generate during an inhalation. ,校对中... +HP:0012497,Reduced maximal expiratory pressure ,最大呼气压降低,A decrease in the maximum amount of pressure of expired air achieved by a person after a full inspiration. ,校对中... +HP:0012498,Nuchal cord ,脐带绕颈,A complication of pregnancy and delivery in which the umbilical cord wraps around the fetal neck once or multiple times. ,校对中... +HP:0012499,Descending aortic dissection ,降主动脉夹层,A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space. ,校对中... +HP:0012500,Verrucous papule ,疣状丘疹,A wartlike (with multiple small elevated projections) papule. ,校对中... +HP:0012501,Abnormality of the brainstem white matter ,脑干白质异常,An anomaly of the white matter of brainstem. ,校对中... +HP:0012503,Abnormality of the pituitary gland ,垂体异常,An anomaly of the pituitary gland. ,校对中... +HP:0012504,Abnormal size of pituitary gland ,脑垂体大小异常,A deviation from the normal size of the pituitary gland. ,校对中... +HP:0012505,Enlarged pituitary gland ,垂体增大,An abnormally increased size of the pituitary gland. ,校对中... +HP:0012506,Small pituitary gland ,垂体缩小,An abnormally decreased size of the pituitary gland. ,校对中... +HP:0012507,Weakness of orbicularis oculi muscle ,眼轮匝肌无力,"Reduced strength of the orbicularis oculi, the circumorbital muscle in the face that closes the eyelid. ",校对中... +HP:0012508,Metamorphopsia ,视物变形,A visual anomaly in which images appear distorted. A grid of straight lines appears wavy and parts of the grid may appear blank. ,校对中... +HP:0012509,Reduced thyroxin-binding globulin ,甲状腺素结合球蛋白降低,"An abnormally decreased amount of thyroxin-binding globulin (TBG) in blood. TBG is responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3'-triiodothyronine (T3) in the bloodstream. ",校对中... +HP:0012510,Extra-axial cerebrospinal fluid accumulation ,轴外脑脊液蓄积,An increased amount of cerebrospinal fluid (CSF) in the subarachnoid space. ,校对中... +HP:0012511,Temporal optic disc pallor ,颞侧视盘苍白,A pale yellow discoloration of the temporal (lateral) portion of the optic disc. ,校对中... +HP:0012512,Diffuse optic disc pallor ,弥漫性视神经乳头苍白,A pale yellow discoloration of the entire optic disc. ,校对中... +HP:0012513,Upper limb pain ,上肢疼痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the arm. ",校对中... +HP:0012514,Lower limb pain ,下肢疼痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg. ",校对中... +HP:0012515,Hip flexor weakness ,屈髋无力,"Reduced ability to flex the femur, that is, to pull the knee upward. ",校对中... +HP:0012517,Reduced catalase level ,过氧化氢酶活性降低,An abnormally decreased amount of catalase level. ,校对中... +HP:0012518,Abnormal circle of Willis morphology ,Willis环形态异常,"An anomaly of the circle of Willis, also known as the cerebral arterial circle. ",校对中... +HP:0012520,Perivascular spaces ,血管周围间隙,"Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery. ",校对中... +HP:0012521,Optic nerve aplasia ,视神经发育缺陷,Congenital absence of the optic nerve. ,校对中... +HP:0012522,Spider hemangioma ,蜘蛛痣,"A form of telangiectasis characterized by a central elevated red dot the size of a pinhead, representing an arteriole, with numerous small blood vessels that radiate out thereby resembling the legs of a spider. Characteristically, compression of the central arteriole causes the entire lesion to blanch, and the lesion quickly refills once the compression is released. ",校对中... +HP:0012523,Oral aversion ,口服厌恶,"Reluctance or refusal of a child to be breastfed or eat, manifested as gagging, vomiting, turning head away from food, or avoidance of sensation in or around the mouth (i.e. toothbrushing or face-washing). ",校对中... +HP:0012526,Absence of alpha granules ,α颗粒缺失,A lack of platelet alpha granules. This typically results in the grey appearance of platelets in giemsa stained blood smears. ,校对中... +HP:0012527,Abnormal alpha granule content ,α颗粒内容物异常,"A deviation from the normal contents of the platelet alpha granules, which normally contain hemostatic proteins such as fibrinogen, von Willebrand factor, and growth factors such as platelet-derived growth factor. ",校对中... +HP:0012528,Abnormal number of alpha granules ,α颗粒数量异常,A deviation from the normal count of alpha granules per thrombocyte. ,校对中... +HP:0012529,Abnormal dense granule content ,致密颗粒含量异常,"A deviation from the normal contents of the platelet alpha granules, which normally contain adenosine triphosphate (ATP), adenosine diphosphate (ADP), serotonin, calcium, and pyrophosphate, which are secreted when platelets are activated. ",校对中... +HP:0012530,Abnormal number of dense granules ,致密颗粒数量异常,A deviation from the normal count of dense granules per thrombocyte. ,校对中... +HP:0012531,Pain ,疼痛,"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. ",校对中... +HP:0012532,Chronic pain ,慢性疼痛,"Persistent pain, usually defined as pain that has lasted longer than 3 to 6 months. ",校对中... +HP:0012534,Dysesthesia ,感觉障碍,"Painful sensations elicited by a nonpainful cutaneous stimulus such as a light touch or gentle stroking over affected areas of the body. Sometimes referred to as hyperpathia or hyperalgesia. Often perceived as an intense burning, dyesthesias may outlast the stimulus by several seconds. ",校对中... +HP:0012537,Food intolerance ,食物不耐受,"A detrimental reaction to a food, beverage, food additive, or compound found in foods that produces symptoms in one or more body organs and systems that is not mediated by an immune reaction. ",校对中... +HP:0012538,Gluten intolerance ,麸质不耐受,"A detrimental reaction to the presence of gluten in food, which may include abdominal pain, fatigue, headaches and paresthesia, or celiac disease. ",校对中... +HP:0012539,Non-Hodgkin lymphoma ,非霍奇金淋巴瘤,A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells. ,校对中... +HP:0012541,Cephalohematoma ,胎头血肿,Hemorrhage between the skull and periosteum of a newborn resulting from rupture of blood vessels that cross the periosteum. ,校对中... +HP:0012542,Onychauxis ,甲肥厚,Thickened nails without deformity. ,校对中... +HP:0012543,Hemosiderinuria ,含铁血黄素尿症,The presence of hemosiderin in the urine. ,校对中... +HP:0012544,Elevated aldolase level ,醛缩酶水平升高,"An increased concentration of fructose 1,6-bisphosphate aldolase in the serum. ",校对中... +HP:0012545,Reduced aldolase level ,醛缩酶水平降低,"An decreased concentration of fructose 1,6-bisphosphate aldolase in the serum. ",校对中... +HP:0012547,Abnormal involuntary eye movements ,不自主眼球运动异常,Anomalous movements of the eyes that occur without the subject wanting them to happen. ,校对中... +HP:0012548,Fatty replacement of skeletal muscle ,骨骼肌脂肪浸润,Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers ,校对中... +HP:0012551,Absent neutrophil specific granules ,中性粒细胞特定颗粒缺乏,Lack of specific granules in neutrophils. ,校对中... +HP:0012553,Hypoplastic thumbnail ,拇指甲发育不全,"A thumbnail that is diminished in length and width, i.e., underdeveloped thumb nail. ",校对中... +HP:0012554,Absent thumbnail ,拇指甲缺失,Absence of thumb nail. ,校对中... +HP:0012555,Absent nail of hallux ,拇趾甲缺失,Absent nail of big toe. ,校对中... +HP:0012557,EEG with centrotemporal focal spike waves ,脑电图伴中央颞区棘波,"EEG with focal sharp transient waves in the centrotemporal region of the brain (also known as the central sulcus), i.e., focal sharp waves of a duration less than 80 msec followed by a slow wave. ",校对中... +HP:0012559,Increased T3/T4 ratio ,T3/T4比值升高,A ratio of serum triiodothyronine (T3) to thyroxine (T4) in the blood that is higher than normal. ,校对中... +HP:0012569,Delayed menarche ,月经初潮延迟,First period after the age of 15 years. ,校对中... +HP:0012570,Synovial sarcoma ,滑膜肉瘤,"A type of mesenchymal tissue cell tumor that exhibits epithelial differentiation, which most frequently arises in the extremities. ",校对中... +HP:0012574,Mesangial hypercellularity ,肾小球系膜增生,"Increased numbers of mesangial cells per glomerulus, defined as more than 3 nuclei fully surrounded by matrix in one or more mesangial areas, not including perihilar region, on a standard 3-micron-thick tissue section, best evaluated on periodic acid-Schiff (PAS) stain. ",校对中... +HP:0012577,Thin glomerular basement membrane ,肾小球基底膜变薄,"Decreased thickness of the glomerular basement membrane (GBM), measured from endothelial to visceral epithelial plasma membrane and mainly attributable to a decrease in thickness of the lamina densa, generally to an overall thickness more than 2 standard deviations less than that of the normal mean GBM thickness for health age- and sex matched individuals. May be focal or diffuse, although the term thin GBMs generally implies thinning of over 50% of GBMs. ",校对中... +HP:0012578,Membranous nephropathy ,膜性肾病,A type of glomerulonephropathy characterized by thickening of the basement membrane and deposition of immune complexes in the subepithelial space. ,校对中... +HP:0012579,Minimal change glomerulonephritis ,微小病变性肾小球肾炎,The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria. ,校对中... +HP:0012582,Bilateral renal dysplasia ,双侧肾发育不良,A bilateral form of developmental dysplasia of the kidney. ,校对中... +HP:0012584,Bilateral renal hypoplasia ,双侧肾发育不良,Two sided hypoplasia of the kidney. ,校对中... +HP:0012585,Renal atrophy ,肾萎缩,Atrophy of the kidney. ,校对中... +HP:0012586,Bilateral renal atrophy ,双侧肾萎缩,A two-sided form of atrophy of the kidney. ,校对中... +HP:0012587,Macroscopic hematuria ,肉眼血尿,Hematuria that is visible upon inspection of the urine. ,校对中... +HP:0012588,Steroid-resistant nephrotic syndrome ,激素耐受性肾病综合征,"A form of nephrotic syndrome that does not respond to treatment with steroid medication, defined as persistent proteinuria despite 60mg/m2 or 2mg/kg for 8 weeks, after insuring no infection or non-adherence to medication. ",校对中... +HP:0012591,Abnormal urinary electrolyte concentration ,尿电解质浓度异常,An abnormality in the concentration of electrolytes in the urine. ,校对中... +HP:0012592,Albuminuria ,蛋白尿,Increased concentration of albumin in the urine. ,校对中... +HP:0012593,Nephrotic range proteinuria ,肾性蛋白尿排泄增高,"Severely increased amount of excretion of protein in the urine, defined as 3.5 grams per day or more in adults and 40 mg per meter-squared body surface area per hour in children. ",校对中... +HP:0012594,Moderate albuminuria ,微量白蛋白尿,"The presence of moderately increased concentrations of albumin in the urine, defined as and albumin-creatinine ratio (ACR) of 30 to 299 mg/gm (3.4 to 34 mg/mmol). ",校对中... +HP:0012595,Mild proteinuria ,轻度蛋白尿,Mildly increased levels of protein in the urine (150-500 mg per day in adults). ,校对中... +HP:0012597,Heavy proteinuria ,严重蛋白尿,Severely increased levels of protein in the urine (1000-3000 mg per day in adults). ,校对中... +HP:0012598,Abnormal urine potassium concentration ,尿钾浓度异常,An abnormal concentration of potassium(1+) in the urine. ,校对中... +HP:0012603,Abnormal urine sodium concentration ,尿钠浓度异常,An abnormal concentration of sodium in the urine. ,校对中... +HP:0012605,Hypernatriuria ,高钠尿症,An increased concentration of sodium(1+) in the urine. ,校对中... +HP:0012606,Renal sodium wasting ,肾源性钠流失,An abnormally increased sodium concentration in the urine in the presence of hyponatremia. ,校对中... +HP:0012608,Hypermagnesiuria ,高镁尿症,An increased concentration of magnesium the urine. ,校对中... +HP:0012611,Increased urinary urate ,尿中尿酸盐增高,Elevated concentration of urate in the urine. ,校对中... +HP:0012618,Urachal cyst ,脐尿管囊肿,A cyst located along the allantois canal. ,校对中... +HP:0012619,Multiple bladder diverticula ,多发性膀胱憩室症,Presence of a many diverticula (sac or pouch) in the wall of the urinary bladder. ,校对中... +HP:0012622,Chronic kidney disease ,慢性肾病,Functional anomaly of the kidney persisting for at least three months. ,校对中... +HP:0012623,Stage 1 chronic kidney disease ,慢性肾病1期,A type of chronic kidney disease with normal or increased glomerular filtration rate (GFR at least 90 mL/min/1.73 m2). ,校对中... +HP:0012624,Stage 2 chronic kidney disease ,慢性肾病2期,A type of chronic kidney disease with mildly reduced glomerular filtration rate (GFR 60-89 mL/min/1.73 m2). ,校对中... +HP:0012626,Stage 4 chronic kidney disease ,慢性肾病4期,A type of chronic kidney disease with severely reduced glomerular filtration rate (GFR 15-29 mL/min/1.73 m2). ,校对中... +HP:0012627,Pseudoexfoliation ,假性囊膜剥脱,Deposition of fibrillar material that can be found on all anterior segment structures bathed by aqueous humor. ,校对中... +HP:0012628,Abnormal suspensory ligament of lens morphology ,晶状体悬韧带形态异常,"An anomaly of the suspensory ligament of lens, also known as the ciliary zonule. These ligaments represent a series of fibers connecting the ciliary body and lens of the eye, holding the lens in place. ",校对中... +HP:0012629,Phakodonesis ,晶状体颤抖,Tremulousness (trembling) of the lens of the eye. ,校对中... +HP:0012631,Pigment deposition in the trabecular meshwork ,小梁网色素沉积,Accumulation of abnormal amounts of pigment within the trabecular meshwork. ,校对中... +HP:0012633,Asymmetry of intraocular pressure ,眼压不对称,A difference in the amount of intraocular pressure in the right and left eye. ,校对中... +HP:0012635,Iris hypoperfusion ,虹膜灌注不足,Reduction in the amount of blood flow to the iris. ,校对中... +HP:0012636,Retinal vein occlusion ,视网膜静脉阻塞,Blockage of the retinal vein. ,校对中... +HP:0012637,Renal calcium wasting ,肾源性钙流失,High urine calcium in the presence of hypocalcemia. ,校对中... +HP:0012638,Abnormal nervous system physiology ,神经系统生理功能异常,A functional anomaly of the nervous system. ,校对中... +HP:0012639,Abnormal nervous system morphology ,神经系统形态异常,A structural anomaly of the nervous system. ,校对中... +HP:0012642,Cerebellar agenesis ,小脑发育不全,"Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles. ",校对中... +HP:0012643,Foveal hypopigmentation ,中心凹脱色素改变,Decreased amount of pigmentation in the fovea centralis. ,校对中... +HP:0012645,Enlarged peripheral nerve ,周围神经增粗,Increase in size of a peripheral nerve. This finding can be appreciated by palpation along the axis of the nerve. ,校对中... +HP:0012646,Retractile testis ,睾丸回缩,A testis that is located at the upper scrotum or lower inguinal canal and that can be made to descend completely into the scrotum without resistance by manual reduction but returns to its original position by the cremasteric reflex. ,校对中... +HP:0012650,Perisylvian polymicrogyria ,外侧裂周区多小脑回,"Polymicrogyria (an excessive number of small gyri or convolutions) that is maximal in perisylvian regions (the regions that surround the Sylvian fissures), which may be symmetric or asymmetric and may extend beyond perisylvian regions. The Sylvian fissures often extend posteriorly and superiorly. ",校对中... +HP:0012658,Abnormal brain FDG positron emission tomography ,脑FDG正电子发射断层扫描异常,An anomaly detectable in [18F]-fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scans. Glucose uptake measured with FDG-PET is a marker of neuronal metabolic activity. ,校对中... +HP:0012662,Parietal hypometabolism in FDG PET ,FDG PET顶叶低代谢,Reduced uptake of [18F]-fluorodeoxyglucose (FDG) in the parietal cortex as measured by positron emission tomography (PET) brain scan. ,校对中... +HP:0012664,Reduced ejection fraction ,射血分数降低,A diminution of the volumetric fraction of blood pumped out of the ventricle with each cardiac cycle. ,校对中... +HP:0012666,Severely reduced ejection fraction ,射血分数严重降低,"A large reduction in the fraction of blood pumped from the left ventricle with each cardiac cycle. The normal range in adults is at over 50 percent, and a severe reduction is defined as less than 30 percent. ",校对中... +HP:0012670,Orthostatic syncope ,直立性晕厥,Syncope following a quick change in position from lying down to standing. ,校对中... +HP:0012671,Abulia ,意志力丧失,"Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency. ",校对中... +HP:0012672,Akinetic mutism ,运动不能缄默症,Akinetic mutism is essentially characterized by a total absence of spontaneous behavior and speech occurring in the presence of preserved visual tracking. ,校对中... +HP:0012675,Iron accumulation in brain ,脑内铁累积,An abnormal build up of iron (Fe) in brain tissue. ,校对中... +HP:0012677,Iron accumulation in globus pallidus ,苍白球铁累积,An abnormal build up of iron (Fe) in the globus pallidus. ,校对中... +HP:0012678,Iron accumulation in substantia nigra ,黑质铁累积,An anomalous build up of iron (Fe) in the substantia nigra. ,校对中... +HP:0012683,Pineal cyst ,松果体囊肿,A glial uniloculated or multiloculated fluid-filled sac that either reside within or completely replace the pineal gland. ,校对中... +HP:0012686,Increased pineal volume ,松果体体积增加,An abnormal elevation in the quantity of three-dimensional space taken up by the pineal gland. ,校对中... +HP:0012687,Agenesis of pineal gland ,松果体发育缺失,"Failure to develop of the pineal gland, defined clinically as the absence of the pineal gland with no indication of the pineal gland even having been present. ",校对中... +HP:0012689,Abnormal pineal melatonin secretion ,松果体褪黑素分泌异常,An anomaly in the amount or timing of melatonin secretion by the pineal gland. Note that melatonin is also synthesized by multiple tissues outside of the pineal gland. ,校对中... +HP:0012690,T2 hypointense thalamus ,丘脑T2序列低信号,A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus. ,校对中... +HP:0012691,Focal T2 hypointense thalamic lesion ,丘脑局灶性T2低信号病变,A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hypointensity affecting a particular region of the thalamus. ,校对中... +HP:0012692,Focal T2 hyperintense thalamic lesion ,丘脑局灶性T2高信号病变,A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus. ,校对中... +HP:0012695,Decreased thalamic volume ,丘脑体积减少,A reduction in the quantity of space occupied by the thalamus. ,校对中... +HP:0012696,Abnormal thalamic MRI signal intensity ,丘脑核磁共振信号强度异常,A deviation from normal signal on magnetic resonance imaging (MRI) of the thalamus. ,校对中... +HP:0012697,Small basal ganglia ,小基底神经节,Decreased size of the basal ganglia. ,校对中... +HP:0012698,Cerebellar gliosis ,小脑胶质细胞增生,Focal proliferation of glial cells in the cerebellum. ,校对中... +HP:0012699,Anomaly of lower limb diaphyses ,下肢骨干异常,A structural abnormality of a diaphysis of the leg. ,校对中... +HP:0012700,Abnormal large intestine physiology ,大肠生理功能异常,A functional anomaly of the large intestine. ,校对中... +HP:0012701,Bowel urgency ,排便紧迫感,"A sudden, irresistible need to have a bowel movement. ",校对中... +HP:0012702,Tenesmus ,里急后重,"A repeated, painful urge to defecate without excreting stool. ",校对中... +HP:0012703,Abnormal subarachnoid space morphology ,蛛网膜下腔形态异常,Abnormality in the space in the meninges beneath the arachnoid membrane and above the pia mater that contains the cerebrospinal fluid. ,校对中... +HP:0012704,Widened subarachnoid space ,蛛网膜下腔增宽,An increase in size of the anatomic space between the arachnoid membrane and pia mater. ,校对中... +HP:0012705,Abnormal metabolic brain imaging by MRS ,通过MRS发现的脑代谢异常,An anomaly of metabolism in the brain identified by magnetic resonance spectroscopy (MRS). ,校对中... +HP:0012706,Elevated brain choline level by MRS ,MRS发现脑胆碱水平升高,An increase in the level of choline-containing compounds in the brain identified by magnetic resonance spectroscopy (MRS). ,校对中... +HP:0012707,Elevated brain lactate level by MRS ,MRS发现乳酸水平升高,An increase in the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). ,校对中... +HP:0012708,Reduced brain N-acetyl aspartate level by MRS ,通过MRS发现N-乙酰天门冬氨酸水平降低,A decrease in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). ,校对中... +HP:0012712,Mild hearing impairment ,轻度听力损失,The presence of a mild form of hearing impairment. ,校对中... +HP:0012715,Profound hearing impairment ,极重度听力损失,A profound (essentially complete) form of hearing impairment. ,校对中... +HP:0012717,Severe conductive hearing impairment ,重度传导性耳聋,A severe form of conductive hearing impairment. ,校对中... +HP:0012718,Morphological abnormality of the gastrointestinal tract ,胃肠道形态异常,Abnormal structure of the gastrointestinal tract. ,校对中... +HP:0012719,Functional abnormality of the gastrointestinal tract ,胃肠道功能异常,Abnormal functionality of the gastrointestinal tract. ,校对中... +HP:0012720,Neoplasm of the nose ,鼻肿瘤,Tumor (An abnormal mass of tissue resulting from abnormally dividing cells) of the nasal cavity. ,校对中... +HP:0012721,Venous malformation ,静脉畸形,"A vascular malformation resulting from a developmental error of venous tissue composed of dysmorphic channels lined by flattened endothelium and exhibiting slow turnover. A venous malformation may present as a blue patch on the skin ranging to a soft blue mass. Venous malformations are easily compressible and usually swell in thewhen venous pressure increases (e.g., when held in a dependent position or when a child cries). They may be relatively localized or quite extensive within an anatomic region. ",校对中... +HP:0012722,Heart block ,心脏传导阻滞,Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. ,校对中... +HP:0012723,Sinoatrial block ,窦房传导阻滞,Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the sinoatrial node to the cardiac atria. ,校对中... +HP:0012724,Upper eyelid edema ,上眼睑水肿,Edema in the region of the upper eyelid. ,校对中... +HP:0012725,Cutaneous syndactyly ,皮肤性并指畸形,"A soft tissue continuity in the A/P axis between two digits that extends distally to at least the level of the proximal interphalangeal joints, or a soft tissue continuity in the A/P axis between two digits that lies significantly distal to the flexion crease that overlies the metacarpophalangeal or metatarsophalangeal joint of the adjacent digits. ",校对中... +HP:0012726,Episodic hypokalemia ,阵发性低钾血症,An abnormally decreased potassium concentration in the blood occurring periodically with a return to normal between the episodes. ,校对中... +HP:0012727,Thoracic aortic aneurysm ,胸主动脉瘤,An abnormal localized widening (dilatation) of the thoracic aorta. ,校对中... +HP:0012730,Aglossia ,无舌畸形,Absence of the tongue owing to a developmental abnormality. ,校对中... +HP:0012731,Ectopic anterior pituitary gland ,异位垂体前叶腺,Abnormal anatomic location of the anterior pituitary gland. ,校对中... +HP:0012732,Anorectal anomaly ,肛肠异常,An abnormality of the anus or rectum. ,校对中... +HP:0012733,Macule ,斑疹,"A flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin. ",校对中... +HP:0012734,Ketotic hypoglycemia ,酮症性低血糖症,Low blood glucose is accompanied by elevated levels of ketone bodies in the body. ,校对中... +HP:0012735,Cough ,咳嗽,"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. ",校对中... +HP:0012736,Profound global developmental delay ,严重的全脑发育迟缓,A profound delay in the achievement of motor or mental milestones in the domains of development of a child. ,校对中... +HP:0012738,Agenesis of canine ,犬齿发育不全,Agenesis of canine tooth. ,校对中... +HP:0012740,Papilloma ,乳头状瘤,A tumor of the skin or mucous membrane with finger-like projections. ,校对中... +HP:0012741,Unilateral cryptorchidism ,单侧隐睾,Absence of a testis from the scrotum on one side owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. ,校对中... +HP:0012742,Thin fingernail ,薄指甲,Fingernail that appears thin when viewed on end. ,校对中... +HP:0012743,Abdominal obesity ,腹型肥胖,Excessive fat around the stomach and abdomen. ,校对中... +HP:0012745,Short palpebral fissure ,短睑裂,"Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures. ",校对中... +HP:0012746,Thin toenail ,薄趾甲,Toenail that appears thin when viewed on end. ,校对中... +HP:0012747,Abnormal brainstem MRI signal intensity ,脑干核磁共振信号强度异常,A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem. ,校对中... +HP:0012748,Focal T2 hyperintense brainstem lesion ,脑干局灶性T2高信号病变,A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hyperintensity affecting a particular region of the brainstem. ,校对中... +HP:0012749,Focal T2 hypointense brainstem lesion ,脑干局灶性T2低信号病变,A darker than expected T2 signal on magnetic resonance imaging (MRI) of the brainstem. This term refers to a localized hypointensity affecting a particular region of the brainstem. ,校对中... +HP:0012751,Abnormal basal ganglia MRI signal intensity ,核磁共振基底节异常信,A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia. ,校对中... +HP:0012752,Focal T2 hypointense basal ganglia lesion ,基底节局灶性T2低信号病变,A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a localized hypointensity affecting a particular region of the basal ganglia. ,校对中... +HP:0012753,T2 hypointense basal ganglia ,基底节T2序列低信号,A darker than expected T2 signal on magnetic resonance imaging (MRI) of the basal ganglia. This term refers to a diffuse hypointensity affecting all of the basal ganglia. ,校对中... +HP:0012757,Abnormal neuron morphology ,神经元形态异常,A structural anomaly of a neuron. ,校对中... +HP:0012758,Neurodevelopmental delay ,神经发育延迟, , +HP:0012759,Neurodevelopmental abnormality ,神经发育异常,"A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities. ",校对中... +HP:0012760,Impaired social reciprocity ,社会交互作用障碍,"A reduced ability to participate in the back and forth flow of social interaction, which is normally characterized by an influence of the behavior of one person on the behavior of another person who is in conversation with the first. ",校对中... +HP:0012762,Cerebral white matter atrophy ,脑白质萎缩,The presence of atrophy (wasting) of the cerebral white matter. ,校对中... +HP:0012763,Paroxysmal dyspnea ,突发性呼吸困难,A sudden attack of dyspnea that occurs while the affected person is at rest. ,校对中... +HP:0012764,Orthopnea ,端坐式呼吸,"A sensation of breathlessness in the recumbent position, relieved by sitting or standing. ",校对中... +HP:0012765,Widened cerebellar subarachnoid space ,增宽的小脑蛛网膜下腔,An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum. ,校对中... +HP:0012766,Widened cerebral subarachnoid space ,脑蛛网膜下腔扩大,An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebrum. ,校对中... +HP:0012768,Neonatal asphyxia ,新生儿窒息,Respiratory failure in the newborn. ,校对中... +HP:0012770,Reduced arm span ,臂展降低,Decreased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). ,校对中... +HP:0012771,Increased arm span ,臂展增加,Increased length of the arm span (length from one end of an individual's arms measured at the fingertips to the other when raised parallel to the ground at shoulder height at a one-hundred eighty degree angle). ,校对中... +HP:0012773,Reduced upper to lower segment ratio ,上下身比例减小,"Decreased ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. Consider the term Disproportionate tall stature (HP:0001519) if tall stature is also present. ",校对中... +HP:0012774,Increased upper to lower segment ratio ,上下身比例增大,"Elevated ratio between the upper and the lower segment of the body, where the lower segment is defined as the length between the top of pubic symphysis to floor, and the upper segment is defined as the top of head to top of pubic symphysis. ",校对中... +HP:0012775,Stellate iris ,星状虹膜,A lacy pattern or iris pigmentation that resembles the spokes of a bicycle wheel. ,校对中... +HP:0012778,Retinal astrocytic hamartoma ,视网膜星形细胞错构瘤,A glial tumor of the retinal nerve fiber layer arising from a retinal astrocyte. ,校对中... +HP:0012785,Flexion contracture of finger ,手指屈曲挛缩,Chronic loss of joint motion in a finger due to structural changes in non-bony tissue. ,校对中... +HP:0012786,Recurrent cystitis ,复发性膀胱炎,Repeated infections of the urinary bladder. ,校对中... +HP:0012787,Recurrent pyelonephritis ,复发性肾盂肾炎,Repeated episodes of pyelonephritis. ,校对中... +HP:0012788,Reticulate pigmentation of oral mucosa ,口腔黏膜网状色素沉着,A net-like pattern of increased pigmentation of the oral cavity. ,校对中... +HP:0012789,Hypoplasia of the calcaneus ,跟骨发育低下,Underdevelopment of the heel bone. ,校对中... +HP:0012793,Kinked brainstem ,脑干扭结,"A kinked appearance of the brainstem, i.e., an exaggerated flexure. ",校对中... +HP:0012794,Periventricular white matter hypodensities ,脑室周围白质低密度,Multiple areas of darker than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. ,校对中... +HP:0012795,Abnormality of the optic disc ,视盘异常,"A morphological abnormality of the optic disc, i.e., of the portion of the optic nerve clinically visible on fundoscopic examination. ",校对中... +HP:0012796,Increased cup-to-disc ratio ,杯盘比增大,An elevation in the ratio of the diameter of the cup of the optic disc to the total diameter of the disc. The optic disc has an orange-pink rim with a pale centre (the cup) that does not contain neuroretinal tissue. An increase in this ratio therefore may indicate a decrease in the quantity of healthy neuroretinal cells. ,校对中... +HP:0012798,Pulmonary lymphangiomyomatosis ,肺淋巴管肌瘤病,"Infiltration of smooth muscle-like cells in lymph vessels as well as the lung (pleura, alveolar septa, bronchi, pulmonary vessels and lymphatics as well as lymph nodes, especially in posterior mediastinum and retroperitoneum). Focal emphysema can develop because of airway narrowing, and the thoracic duct may be obliterated. Pulmonary lymphangiomyomatosis may lead to multiple small cysts with a hamartomatous proliferation of smooth muscle in their walls. ",校对中... +HP:0012799,Unilateral facial palsy ,单侧面神经麻痹,One-sided weakness of the muscles of facial expression and eye closure. ,校对中... +HP:0012801,Narrow jaw ,窄下颌,Bigonial distance (lower facial width) more than 2 standard deviations below the mean (objective); or an apparently decreased width of the lower jaw (mandible) when viewed from the front (subjective). ,校对中... +HP:0012802,Broad jaw ,宽下颌,Bigonial distance (lower facial width) more than 2 SD above the mean (objective); or an apparently increased width of the lower jaw (mandible) when viewed from the front (subjective). ,校对中... +HP:0012803,Anisometropia ,屈光参差,Inequality of refractive power of the two eyes. ,校对中... +HP:0012804,Corneal ulceration ,角膜溃疡,Disruption of the epithelial layer of the cornea with involvement of the underlying stroma. ,校对中... +HP:0012805,Iris transillumination defect ,虹膜透光缺陷,Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. ,校对中... +HP:0012806,Proboscis ,管状鼻,"A fleshy, tube-like structure usually located in the midline of the face or just to one side of the midline. ",校对中... +HP:0012809,Narrow nasal base ,鼻基狭窄,Decreased distance between the attachments of the alae nasi to the face. ,校对中... +HP:0012810,Wide nasal base ,宽鼻底,Increased distance between the attachments of the alae nasi to the face. ,校对中... +HP:0012811,Wide nasal ridge ,宽鼻嵴,Increased width of the nasal ridge. ,校对中... +HP:0012813,Unilateral breast hypoplasia ,单侧乳房发育不良,Underdevelopment of the breast on one side only. ,校对中... +HP:0012814,Bilateral breast hypoplasia ,双侧乳房发育不良,Underdevelopment of the breast on both sides. ,校对中... +HP:0012815,Hypoplastic female external genitalia ,女性外生殖器发育不良,"Underdevelopment of part or all of the female external reproductive organs (which include the mons pubis, labia majora, labia minora, Bartholin glands, and clitoris). ",校对中... +HP:0012817,Noncompaction cardiomyopathy ,心肌致密化不全,"A type of cardiomyopathy characterized anatomically by deep trabeculations in the ventricular wall, which define recesses communicating with the main ventricular chamber. ",校对中... +HP:0012819,Myocarditis ,心肌炎,Inflammation of the myocardium. ,校对中... +HP:0012841,Retinal vascular tortuosity ,视网膜血管迂曲,The presence of an increased number of twists and turns of the retinal blood vessels. ,校对中... +HP:0012844,Trichilemmoma ,毛根鞘瘤,A benign tumour originating from the outer root sheath of the hair follicle. ,校对中... +HP:0012847,Epilepsia partialis continua ,部分性癫痫发作持续状态,"Epilepsia partialis continua (also called Kojevnikov's or Kozhevnikov's epilepsia) is a type of focal motor status epilepticus characterized by repeated stereotyped simple motor manifestations such as jerks, typically of a limb or the face, recurring every few seconds or minutes for extended periods (days or years). ",校对中... +HP:0012850,Small intestinal dysmotility ,小肠动力障碍,"Abnormal small intestinal contractions, such as spasms and intestinal paralysis related to the loss of the ability of the gut to coordinate muscular activity because of endogenous or exogenous causes. ",校对中... +HP:0012852,Hepatic bridging fibrosis ,肝桥接性纤维化,Hepatic fibrosis that reaches from a portal area to another portal area. ,校对中... +HP:0012854,Midshaft hypospadias ,中段尿道下裂,Hypospadias with location of the urethral meatus in the middle of the inferior shaft of the penis. ,校对中... +HP:0012855,Scrotal hyperpigmentation ,阴囊色素沉着,Increased pigmentation (skin color) of the scrotum. ,校对中... +HP:0012856,Abnormal scrotal rugation ,阴囊褶皱异常,Anomaly of the folded ridges (wrinkles) of skin of the scrotum. ,校对中... +HP:0012860,Testicular fibrosis ,睾丸纤维化,Formation of excess connective tissue in the testicle. ,校对中... +HP:0012861,Ovotestis ,卵睾（两性生殖腺）,A gonad that contains both ovarian follicles and testicular tubular elements. ,校对中... +HP:0012863,Abnormal male germ cell morphology ,男性生殖细胞形态异常,A structural anomaly of a male reproductive cell. ,校对中... +HP:0012864,Abnormal sperm morphology ,精子形态异常,A structural anomaly of sperm. ,校对中... +HP:0012865,Abnormal sperm head morphology ,精子头部形态异常,A structural abnormality of the sperm head. ,校对中... +HP:0012867,Abnormal sperm mid-piece morphology ,精子中段形态异常,A structural abnormality of the sperm mid-piece. ,校对中... +HP:0012868,Abnormal sperm tail morphology ,精子尾部形态异常,A structural abnormality of the sperm tail. ,校对中... +HP:0012869,Acephalic spermatozoa ,无头精子,"Spermatozoa with very small cranial ends devoid of any nuclear material, that is, lacking a typical sperm head. ",校对中... +HP:0012870,Vanishing testis ,睾丸消失,"A condition which is considered to be due to the subsequent atrophy and disappearance in fetal life of an initially normal testis. In the presence of spermatic cord structures is evidence of the presence of the testis in early intrauterine life. When associated with a blind-ending spermatic cord, this entity is named as his absence of a testis in an otherwise normal 46XY male is usually unilateral and is assumed to be a consequence of intrauterine or perinatal torsion or infarction. ",校对中... +HP:0012871,Varicocele ,精索静脉曲张,"A varicocele is a widening of the veins along the spermatic cord, leading to enlarged, twisted veins in the scrotum, and manifested clinically by a painless testicle lump, scrotal swelling, or bulge in the scrotum. ",校对中... +HP:0012873,Absent vas deferens ,输精管缺如,Aplasia (congenital absence) of the vas deferens. ,校对中... +HP:0012877,Retrograde ejaculation ,逆行射精,The emission of semen and seminal fluid into the bladder instead of through the penis during orgasm. ,校对中... +HP:0012881,Abnormal labia majora morphology ,大阴唇形态异常,An anomaly of the outer labia. ,校对中... +HP:0012882,Hyperplastic labia majora ,大阴唇增生,Overgrowth of the outer labia. ,校对中... +HP:0012886,Hemorrhagic ovarian cyst ,出血性卵巢囊肿,An abdominal mass formed by bleeding into a follicular ovarian cyst or corpus luteum cyst. ,校对中... +HP:0012887,Ovarian serous cystadenoma ,卵巢浆液性囊腺瘤,"A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue. ",校对中... +HP:0012888,Abnormality of the uterine cervix ,宫颈异常,"An anomaly of the neck of the uterus (lower part of the uterus), called the uterine cervix. ",校对中... +HP:0012890,Posteriorly placed anus ,肛门后置,Posterior malposition of the anus. ,校对中... +HP:0012892,Facial muscle hypertrophy ,面部肌肉肥大,Hypertrophy of one or more muscles innervated by the facial nerve (the seventh cranial nerve). ,校对中... +HP:0012893,Neck muscle hypertrophy ,颈部肌肉肥大,Muscle hypertrophy affecting the muscles of the neck. ,校对中... +HP:0012896,Abnormal motor evoked potentials ,运动诱发电位异常,An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways. ,校对中... +HP:0012898,Abnormal lower-limb motor evoked potentials ,下肢运动诱发电位异常,An anomaly identified by motor evoked potentials (MEPs) in the leg. ,校对中... +HP:0012899,Handgrip myotonia ,抓握性肌强直,Difficulty releasing one's grip associated with prolonged first handgrip relaxation times. ,校对中... +HP:0012900,Myotonia of the face ,面部肌强直,Slowed relaxation of muscles in the face. ,校对中... +HP:0012901,Myotonia of the jaw ,下颌肌强直,Slowed relaxation of muscles in the jaw. ,校对中... +HP:0012902,Myotonia of the lower limb ,下肢肌强直,Slowed relaxation of muscles in the leg. ,校对中... +HP:0012903,Myotonia of the upper limb ,上肢肌强直,Slowed relaxation of muscles in the arm. ,校对中... +HP:0012904,Cold-sensitive myotonia ,冷敏性肌强直,An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation that is induced by exposure to cold. ,校对中... +HP:0012905,Euryblepharon ,睑外翻,"Euryblepharon is a congenital eyelid anomaly characterized by horizontal enlargement of the palpebral fissure. The eyelid is shortened vertically compared with the horizontal dimension, with associated lateral canthal malpositioning and lateral ectropion abnormally wide lid opening. ",校对中... +HP:0020006,Ciliary body coloboma ,睫状体缺损,A coloboma of the ciliary body. ,校对中... +HP:0020034,Diffuse ,弥漫性,"A spatial pattern that is spread out, i.e., not localized. ",校对中... +HP:0020035,Lower limb dysmetria ,下肢距辨不良症,A lack of coordination of leg movement manifested by undershoot or overshoot of the intended position of the leg. ,校对中... +HP:0020036,Upper limb dysmetria ,上肢距辨不良,A lack of coordination of arm movement manifested by undershoot or overshoot of the intended position of the arm. ,校对中... +HP:0020037,Astasia ,站立不能,A postural abnormality characterized by the inability to stand without external support despite having sufficient muscle strength. ,校对中... +HP:0020038,Vertebrobasilar dolichoectasia ,椎基底动脉扩张延长症,"Elongation, dilatation, and/or tortuosity of the vertebrobasilar segment. The definition of VBD includes: (i) diameter of basilar or vertebral artery over 4.5 mm; or (ii) deviation of any portion more than 10 mm from the shortest expected course; and (iii) length of basilar artery over 29.5 mm or length of intracranial vertebral artery over 23.5 mm. ",校对中... +HP:0020045,Esodeviation ,内斜视,A manifest or latent ocular deviation in which one or both eyes tends to deviate nasally. ,校对中... +HP:0020046,Accommodative esotropia ,调节性内斜视,A form of esotropia (convergent deviation of the eyes) associated with activation of the accommodative reflex. ,校对中... +HP:0020049,Exodeviation ,外斜视,A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally. ,校对中... +HP:0020059,Increased red blood cell count ,红细胞计数增高,An abnormal elevation above the normal number of red blood cells per volume in the circulation. ,校对中... +HP:0020061,Abnormal hemoglobin concentration ,血红蛋白浓度异常,Any deviation from the normal concentration of hemoglobin in the blood. ,校对中... +HP:0020062,Decreased hemoglobin concentration ,血红蛋白浓度减低,An abnormal reduction below normal hemoglobin concentration in the circulation. ,校对中... +HP:0020063,Increased hemoglobin concentration ,血红蛋白浓度增高,An abnormal elevation above normal hemoglobin concentration in the circulation. ,校对中... +HP:0020072,Persistent EBV viremia ,持续性EBV病毒血症,Persistent presence of Epstein-Barr virus in the blood. ,校对中... +HP:0020073,Hypopigmented macule ,低色素斑点,A white or lighter patch of skin that may appear anywhere on the body and are caused by decreased skin pigmentation. ,校对中... +HP:0020074,Crystalluria ,结晶尿,The presence of crystals in the urine. ,校对中... +HP:0020080,Erythrocyte inclusion bodies ,红细胞包涵体,Nuclear or cytoplasmic aggregates of substances in red blood cells. ,校对中... +HP:0020081,Pappenheimer bodies ,帕彭海默小体,"A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain). ",校对中... +HP:0020082,Heinz bodies ,海因小体,A type of erythrocyte inclusion composed of denatured hemoglobin. ,校对中... +HP:0020083,Furuncle ,疖,"An infection of a hair follicle that extends subcutaneously, forming an abscess. ",校对中... +HP:0020086,BCGitis ,接种卡介苗后局部或周边感染,Local or regional infection with Bacillus Calmette-Guerin (BCG) following vaccination. ,校对中... +HP:0020087,BCGosis ,接种卡介苗后远处或播散性感染,"Distant, or disseminated infection with Bacillus Calmette-Guerin (BCG) following vaccination associated with failure to contain thebacillus Calmette-Guerin (BCG) following vaccination leading to spread of BCG to many sites in the body. The tuberculosis vaccine BCG contains live attenuated Mycobacterium bovis. ",校对中... +HP:0020088,Post-vaccination measles ,接种麻疹减毒活疫苗后感染,Infection with the measles virus of the live-attenuated vaccine. This is an extremely rare event and may indicate immunocompromise in some cases. ,校对中... +HP:0020096,Recurrent streptococcal infections ,复发性链球菌感染,"Increased susceptibility to streptococcal infections, as manifested by recurrent episodes of streptococcal infections. ",校对中... +HP:0020102,Pneumocystis jirovecii pneumonia ,肺孢子菌肺炎,"An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnoea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing. ",校对中... +HP:0020105,Severe toxoplasmosis ,重度弓形虫感染,"Toxoplasmosis is a widespread parasitic infection that is frequently asymptomatic in immunocompetent patients. However, this obligate intracellular protozoan parasite can evade the immune system and persist for the life of its host in cyst form, predominantly in the brain, retina, and muscles. Reactivation of latent cysts may occur when the immune system fails to maintain cytokine pressure, which mainly relies on gamma interferon (IFN-gamma). Toxoplasmosis is a life-threatening infection in immunocompromised patients (ICPs). ",校对中... +HP:0020110,Bone fracture ,骨折,A partial or complete breakage of the continuity of a bone. ,校对中... +HP:0020113,Decreased proportion of CD4+CD25+ regulatory T cells ,CD4+CD25+调节性T细胞比例降低,"An abnormally decreased proportion of CD4-positive, CD25-positive, alpha-beta regulatory T cells in circulation, relative to another population of cells. ",校对中... +HP:0020114,Persistent human papillomavirus infection ,持续性人乳头瘤病毒感染,"Human papillomaviruses (HPVs) are small oncogenic viruses. HPV has been shown to cause a variety of lesions and malignancies, which predominantly affect the anogenital region. Low-risk, non-oncogenic HPV types are associated with anogenital warts and recurrent respiratory papillomatosis while high-risk, oncogenic types are associated with cervical, penile, anal, vaginal, vulvar, and oropharyngeal cancers. Infection with anogenital HPV is usually asymptomatic and resolves spontaneously without consequences in the immunocompetent host. When disease does occur, the most common manifestation is genital warts, which may be small papules, or flat, smooth or pedunculated lesions. This resolution of HPV lesions is not generally seen in the immunosuppressed, resulting in severe, persistent and extensive manifestations of HPV disease. ",校对中... +HP:0020117,Hypoplastic dermoepidermal hemidesmosomes ,真皮表皮交界处半小体发育不良,"Underdeveloped hemidesmosomes at the dermoepidermal junction. Hemidesmosomes are the specialized junctional complexes, that contribute to the attachment of epithelial cells to the underlying basement membrane in stratified and other complex epithelia, such as the skin. ",校对中... +HP:0020118,Radial artery aplasia ,桡动脉未发育,Congenital absence of the radial artery. ,校对中... +HP:0020119,Abnormal retinal nerve fiber layer morphology ,视网膜神经纤维层形态异常,A structural abnormality of the retinal nerve fiber layer ,校对中... +HP:0020120,Retinal nerve fiber edema ,视网膜神经纤维水肿,Swelling (edema) of the retinal nerve fibers. ,校对中... +HP:0020122,Bite cells ,咬痕细胞,Red blood cells that appear to have parts of them bitten away. ,校对中... +HP:0020123,Tympanosclerosis ,鼓膜硬化症,"A stiffening of the tympanic membrane due to calcification, typically presents as white plaque-like lesions, involving discrete regions of the tympanic membrane and/or middle ear. ",校对中... +HP:0020127,Periarticular soft-tissue mass ,关节周围软组织肿块,"A lump detected in the region that surrounds a joiny. In this context, mass is a general term for a lump or growth that may be caused by the abnormal growth of cells, a cyst, hormonal changes, or an immune reaction. ",校对中... +HP:0020132,Thickening of the tubular basement membrane ,肾小管基底膜增厚,Increase in thickness of the basement membrane of the tubulus of the kidney. ,校对中... +HP:0020135,Myofibromatosis ,肌纤维瘤病,"A mesenchymal neoplasm characterized by solitary or multiple nodules involving the skin, striated muscles, bones and, sometimes, viscera. It usually appears as a subcutaneous nodule, but can also appear as an ulcer, pedunculated lesion, or similar to a hemangioma. Histology shows well-circumscribed tapered cell lobes, resembling smooth muscle cells. At its center, perivascular round cells (hemangiopericitoides) are usually observed, giving a biphasic appearance. ",校对中... +HP:0020136,Anticardiolipin IgG antibody positivity ,抗心磷脂IgG抗体阳性,The presence of circulating IgG autoantibodies to cardiolipin. ,校对中... +HP:0020151,Anti-dsDNA antibody positivity ,抗双链DNA 抗体阳性,The presence of autoantibodies (immunoglobulins) in the serum that react against double-stranded DNA. ,校对中... +HP:0020152,Distal joint laxity ,远端关节松弛,"Lack of stability of a distal joint (e.g., finger). ",校对中... +HP:0020154,Nevus comedonicus ,黑头粉刺样痣,"A type of epidermal nevus characterized by closely arranged, dilated follicular openings with keratinous plugs resembling classical comedones. ",校对中... +HP:0020155,Abnormal oocyte morphology ,卵细胞形态异常,An abnormal structure of the female germ cell (egg cell). ,校对中... +HP:0020157,Thin zona pellucida ,透明带变薄,Reduced thickness of the zona pellucida. ,校对中... +HP:0020159,Reduced response to gonadotropin-releasing hormone stimulation test ,促性腺激素释放激素刺激应答减弱,"Failure of the gonadotropin-releasing hormone (GnRH) stimulation test to induce an appropriate increased in luteinizing hormone (LH), follicle-stimulating hormone (FSH) levels. ",校对中... +HP:0020169,Abnormal drug response ,药物反应异常,An anomlous response to a medication related to individual variation in metabolic or immune response to drugs varying from potentially from potentially life-threatening adverse drug reactions to alteration of therapeutic efficacy. ,校对中... +HP:0020181,Reduced haptoglobin level ,结合珠蛋白水平降低,"An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state. ",校对中... +HP:0020185,Superior cerebellar dysplasia ,小脑上部发育不良,Abnormal morphological development of the superior part of the cerebellum. ,校对中... +HP:0020186,Multilobulated spleen ,多叶脾,"The fetal spleen is lobulated, and these lobules normally disappear before the birth. Lobulation of the spleen may persist into adult life and be typically seen along the medial part of the spleen. A persisting lobule results in a variation in shape of the spleen. ",校对中... +HP:0020189,Posterior predominant thick cortex pachygyria ,主要累及后脑皮质增厚的巨脑回,"Pachygyria with cortical thickness above 10 mm with and a posterior predominant severety gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. ",校对中... +HP:0020190,Perisylvian predominant thick cortex pachygyria ,主要累及脑外侧皮质增厚的巨脑回,"Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria. ",校对中... +HP:0020191,Anterior predominant thick cortex pachygyria ,主要累及前脑皮质增厚的巨脑回,"Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severety gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes. ",校对中... +HP:0020200,Increased circulating 18-hydroxycortisone level ,血液18-羟基皮质酮水平升高,An abnormally elevated concentration of 18-Hydroxycorticosterone level in the blood circulation. ,校对中... +HP:0020202,Abnormal Z disc morphology ,Z盘形态异常,"Any structural anomaly of the Z disc, which is the platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. ",校对中... +HP:0020203,Z-band streaming ,Z带漂移,"Streaming or smearing of the Z band, which is then no longer confined to a narrow zone which bisects the I band. The Z disc may extend across the I band or the entire sarcomere in a zigzag manner. Focal thickening, smudging, and blurring of the Z band takes place concurrently. Myofibrillar disorganization is a frequent but not invariable accompanying change. ",校对中... +HP:0020206,Simple ear ,简平耳,The pinna has fewer folds and grooves than usual. ,校对中... +HP:0020208,Eating-induced seizure ,进食诱发性癫痫发作,"A seizure precipitated by aspects of anticipating food, eating itself, or the post-prandial period. ",校对中... +HP:0020216,Visually-induced seizure ,视觉诱发性癫痫发作,"Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect. ",校对中... +HP:0020217,Focal aware motor seizure ,清醒状态局灶性运动癫痫发作,A type of focal motor seizure in which awareness is retained throughout the seizure. ,校对中... +HP:0020221,Clonic seizure ,阵挛性癫痫发作,"A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive. ",校对中... +HP:0025010,Foveal atrophy ,视网膜中央凹萎缩,Partial or complete loss of foveal tissue that was once present. ,校对中... +HP:0025011,Pyriform aperture stenosis ,鼻梨状孔狭窄,"Narrowing of the anterior nasal aperture (piriform or pyriform aperture), which is a pear-shaped opening in the skull that forms the bony inlet of the nose. ",校对中... +HP:0025012,Status cribrosum ,筛状脑,"Diffusely widened perivascular spaces in the basal ganglia, affecting especially the corpus striatum. Status cribrosum is usually symmetrical, with the perivascular spaces showing CSF signal and without diffusion restriction. The word cribriform means sievelike, with multiple perforations. ",校对中... +HP:0025013,Decerebrate rigidity ,去大脑僵直,A type of rigidity that is manifested by an exaggerated extensor posture of all extremities. ,校对中... +HP:0025014,Subcutaneous spheroids ,皮下球状物,"Small, hard cyst-like nodules, freely moveable in the subcutis over the bony prominences of the legs and arms, which have an outer calcified layer with a translucent core on x-ray. ",校对中... +HP:0025015,Abnormal vascular morphology ,血管形态异常, , +HP:0025017,Capillary fragility ,毛细血管脆性,Reduced resistance to rupture of capillary blood vessels. Capillary fragility may manifest as a bleeding diathesis with spontaneous ecchymoses (bruises). ,校对中... +HP:0025018,Abnormal capillary physiology ,毛细血管生理异常,A functional anomaly of the tiny blood vessels that connect arterioles with venules and whose walls act as semipermeable membranes that mediate the diffusion of fluids and gases between the blood circulation and body tissues. ,校对中... +HP:0025019,Arterial rupture ,动脉破裂,Sudden breakage of an artery leading to leakage of blood from the circulation. ,校对中... +HP:0025022,Decreased erythrocyte sedimentation rate ,红细胞沉降率下降,A reduced erythrocyte sedimentation rate (ESR). The ESR is a test that measures the distance that erythrocytes have fallen after one hour in a vertical column of anticoagulated blood under the influence of gravity. The ESR is a nonspecific finding. A decreased ESR may be seen in polycythemia or in certain blood diseases in which red blood cells have an irregular or smaller shape that causes slower settling. ,校对中... +HP:0025023,Rectal atresia ,直肠闭锁,"A developmental defect resulting in complete obliteration of the lumen of the rectum. That is, there is an abnormal closure, or atresia of the tubular structure of the rectum. ",校对中... +HP:0025024,Megarectum ,巨直肠,"An abnormal dilation of the rectum. There is a large filled rectum as a result of underlying innervation or muscular abnormalities, which remains after disimpaction of the rectum. ",校对中... +HP:0025025,Rectovestibular fistula ,直肠前庭瘘,"A congenital malformation characterized by an abnormal connection (fistula) between the rectum and the vulval vestibule, at the lower aspect of the vaginal opening. ",校对中... +HP:0025027,Osteoma cutis ,皮肤骨瘤,"The term osteoma refers to the anomalous presence of ossification (bone formation) in the interior of the dermis or epidermis. The dermal or subcutaneous bone formation presents as stony hard nodules. The osteomata appear as irregular, hardened small nodules that are well circumscribed and generally of the same color as the skin. ",校对中... +HP:0025028,Abnormality of enteric nervous system morphology ,肠神经系统形态异常,A structural anomaly of nerves of the enteric nervous system. ,校对中... +HP:0025035,Abnormal proerythroblast morphology ,原红细胞形态异常,"Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers. ",校对中... +HP:0025040,Thalamic edema ,丘脑水肿,Swelling within the thalamus due to the accumulation of fluid. ,校对中... +HP:0025041,Thalamic calcification ,丘脑钙化,Calcium deposition in the thalamus. ,校对中... +HP:0025043,Enlarged mesenteric lymph node ,肠系膜淋巴结肿大,Increase in size of one or more mesenteric lymph nodes. ,校对中... +HP:0025045,Abnormal brain lactate level by MRS ,MRS分析大脑乳酸水平异常,A deviation from normal of the level of lactate in the brain identified by magnetic resonance spectroscopy (MRS). ,校对中... +HP:0025051,Reduced brain creatine level by MRS ,MRS分析大脑肌酸水平偏低,A decrease in the level of creatine in the brain identified by magnetic resonance spectroscopy (MRS). ,校对中... +HP:0025053,Elevated brain N-acetyl aspartate level by MRS ,MRS分析大脑N-乙酰天门冬氨酸水平升高,An increase in the level of N-acetyl aspartate in the brain identified by magnetic resonance spectroscopy (MRS). ,校对中... +HP:0025058,Hypothalamic atrophy ,下丘脑萎缩,Partial or complete wasting (loss) of hypothalamus tissue that was once present. ,校对中... +HP:0025065,Abnormal mean corpuscular volume ,红细胞体积异常,"A deviation from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells, usually taken to be 80 to 100 femtoliters. ",校对中... +HP:0025066,Decreased mean corpuscular volume ,红细胞平均体积减低,"A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters). ",校对中... +HP:0025072,Prominent U wave ,U波明显,"Increased amplitude of the U wave, defined as an amplitude grerater than 1-2mm or 25 percent of the height of the T wave. ",校对中... +HP:0025075,Increased QRS voltage ,QRS高电压,"Elevation of the voltage (height) of the QRS complex. There are several criteria in use, but the most common is the Sokolov-Lyon criterion (S wave depth in V1 + tallest R wave height in V5-V6 greater than 35 mm). ",校对中... +HP:0025080,Orthokeratotic hyperkeratosis ,正角化过度,A form of hyperkeratosis characterized by thickening of the cornified layer without retained nuclei. ,校对中... +HP:0025081,Darier's sign ,Darier征,"A skin change elicited by briskly rubbing the skin lesion in urticaria pigmentosa (UP), whereby the area begins to itch and becomes raised and surrounded by erythema. Unlike other forms of dermatographism, Darier's sign refers to urtication that is limited to the UP involved areas and, as in this case, spares the skin unaffected by UP. ",校对中... +HP:0025084,Folliculitis ,毛囊炎,"Inflammatory cells within the wall and ostia of the hair follicle, creating a follicular-based pustule. ",校对中... +HP:0025085,Bloody diarrhea ,便血,Passage of many stools containing blood. ,校对中... +HP:0025088,Onychomadesis ,脱甲病,Complete shedding (separation) of the nail from the proximal matrix. Onychomadesis is the proximal separation of the nail plate from the nail matrix due to a temporary cessation of nail growth. ,校对中... +HP:0025090,Abnormal large intestinal mucosa morphology ,大肠黏膜形态异常,A structural anomaly of the mucous lining of the large intestine. ,校对中... +HP:0025092,Epidermal acanthosis ,表皮棘皮症,Diffuse hypertrophy or thickening of the stratum spinosum of the epidermis (prickle cell layer of the skin). ,校对中... +HP:0025097,Eyelid myoclonus ,眼睑肌阵挛,"Marked, involuntary jerking of the eyelids. ",校对中... +HP:0025099,Dysgenesis of the thalamus ,丘脑发育不全,Structural abnormality of the thalamus related to defective development. ,校对中... +HP:0025100,Abnormal hippocampus morphology ,海马形态异常,"Any structural anomaly of the hippocampus, ",校对中... +HP:0025101,Dysgenesis of the hippocampus ,海马回发育不全,Structural abnormality of the hippocampus related to defective development. ,校对中... +HP:0025102,Dysgenesis of the basal ganglia ,基底节发育不良,Structural abnormality of the basal ganglia related to defective development. ,校对中... +HP:0025104,Capillary malformation ,毛细血管畸形,"A capillary malformation is a flat, sharply defined vascular stain of the skin. It may cover a large surface area or it may be scattered and appear as little islands of color. In a capillary maformation, the predominant vessels are small, slow-flow vessels (i.e., arterioles and postcapillary venules). ",校对中... +HP:0025105,Nevus anemicus ,贫血痣,A congenital skin lesion characterized by irregular hypopigmented macules that coalesce to form plaques and occur particularly on the chest. It is generally present at birth or develops in the first days of life. It is more common in females. Diagnosis is confirmed by applying gentle friction to the lesion and the surrounding skin and checking that the erythema produced in the healthy skin does not appear in the hypopigmented lesion. This pale macule becomes more conspicuous when the lesion and its surroundings are rubbed. The margin of the naevus is ill-defined and consists of an archipelago of small anaemic spots. ,校对中... +HP:0025107,Cutis marmorata telangiectatica congenita ,先天性毛细血管扩张性大理石样皮肤,"A congenital vascular malformation that presents as localized or generalized erythematous-telangiectatic lesions with a reticular pattern; the lesions are almost always present at birth or develop in the first days of life. Cutis marmorata telangiectatica congenita (CMTC) appears as marble-like pattern (mottling) on the surface of the skin. In contrast to cutis marmorata, the marbling is more severe and always visible. ",校对中... +HP:0025109,Reduced red cell pyruvate kinase level ,红细胞丙酮酸激酶活性降低,Decrease in the level of pyruvate kinase (PK) within erythrocytes. PK catalyzes the reaction: ATP + pyruvate = ADP + phosphoenolpyruvate. ,校对中... +HP:0025112,Sound sensitivity ,声敏感,Decreased tolerance to sound. ,校对中... +HP:0025114,Hypergranulosis ,颗粒层增厚,Hypergranulosis is an increased thickness of the stratum granulosum. ,校对中... +HP:0025115,Civatte bodies ,胶样小体,"Eosinophilic hyaline ovoid bodies which are often found in the subepidermal papillary regions or sometimes in the epidermis. Civatte bodies (CBs) are seen as rounded, homogenous, eosinophilic masses on routine H and E staining lying in the deeper parts of epidermis/epithelium and more frequently in dermis/connective tissue. They are known as CBs (in epithelium/epidermis), colloid bodies, or hyaline bodies (in connective tissue). They are 10-25 micrometers in diameter and situated mostly within or above the inflammatory cell infiltrate. In lichen planus, the number of necrotic keratinocytes may be so large that they are seen lying in clusters in the uppermost dermis. These bodies show a positive periodic acid Schiff reaction and are diastase resistant ",校对中... +HP:0025116,Fetal distress ,胎儿窘迫,"An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile. ",校对中... +HP:0025118,Lip discoloration ,唇色改变,Lightening or darkening of the lips from their usual coloring. ,校对中... +HP:0025124,Fragile teeth ,牙齿发脆,A tendency of teeth to fracture as manifested by a history of repeated fracture of the dental enamel without adequate trauma. ,校对中... +HP:0025128,Reduced intraabdominal adipose tissue ,腹腔内脂肪组织减少,An abnormally reduced amount of adipose tissue in the abdominal cavity. ,校对中... +HP:0025129,Abnormal small intestinal mucosa morphology ,小肠粘膜形态异常,A structural anomaly of the mucous lining of the small intestine. ,校对中... +HP:0025130,Decreased small intestinal mucosa lactase level ,小肠黏膜乳糖酶水平降低,"Lactase is produced in the small intestine in humans, Lactase is a member of the beta-galactosidase family of enzymes, and hydrolyzes D-lactose to form D-galactose and D-glucose, which can be absorbed by the small intestine. There are many ways of assessing lactase activity. In one test, an endoscopic biopsy from the postbulbar duodenum is incubated with lactose on a test plate, and a color reaction develops within 20 min as a result of hydrolyzed lactose (a positive result) in patients with normolactasia, whereas no reaction (a negative result) develops in patients with severe hypolactasia. Other, less direct, tests include the hydrogen breath test, and blood tests following lactose challenges. ",校对中... +HP:0025131,Finger swelling ,手指肿胀,Enlargement of the soft tissues of one or more fingers. ,校对中... +HP:0025134,Increased serum estradiol ,血清雌二醇增多,An elevation above normal limits of the concentration of estradiol in the circulation. ,校对中... +HP:0025143,Chills ,寒栗,A sudden sensation of feeling cold. ,校对中... +HP:0025144,Shivering ,颤抖,Involuntary contraction or twitching of the muscles. ,校对中... +HP:0025145,Rigors ,僵硬,Severe chills with violent shivering. A rigor is an episode of shaking or exaggerated shivering which can occur with a high fever. ,校对中... +HP:0025147,Beaten bronze macular sheen ,黄斑金属样光泽,"A shiny appearance of the macula, which is often called a beaten bronze appearance. ",校对中... +HP:0025148,Dark choroid ,脉络膜湮没征,A fluorescein angiographic finding of absence of the normal background fluorescence (a dark choroid). ,校对中... +HP:0025149,Atrophic muscularis propria ,固有肌层萎缩,"Partial or complete wasting (loss) of muscularois propria tissue that was once present. The atrophy may involve a marked vacuolar degeneration of myocytes, loss of muscle fibers and some cases a highly characteristic honeycomb fibrosis. ",校对中... +HP:0025152,Poor visual behavior for age ,视觉行为发育差,Lack of visual responsiveness or decrease in visual capabilities suggesting a lack of visual responsiveness or decrease in visual capabilities in an infant or young child in which visual behavior fails to meet normal developmental milestones. ,校对中... +HP:0025156,Dependency on intravenous nutrition ,静脉营养依赖,"Inability to be weaned from intravenous (parenteral) nutrition, as judged by the hydration status (urine output, blood urea nitrogen, creatinine, urine sodium concentration), ability to maintain weight, stool output, and serum electrolyte status. ",校对中... +HP:0025158,Hyperautofluorescent retinal lesion ,视网膜自发强荧光病变,Increased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. ,校对中... +HP:0025159,Hypoautofluorescent retinal lesion ,视网膜自发弱荧光病变,Decreased amount of autofluorescence in the retina as ascertained by fundus autofluorescence imaging. ,校对中... +HP:0025160,Abnormal temper tantrums ,异常发脾气,"A temper tantrum is an emotional outburst usually triggered by a sense of frustration and manifested as whining and crying, screaming, kicking, hitting, and breath holding. Temper tantrums are normal in toddlers and young children and usually happen between the ages of one to three years. Temper tantrums may be considered abnormal if they occur at an unusually high frequency, are of unusual severity, or occur at an old age than usual. ",校对中... +HP:0025161,Frequent temper tantrums ,频繁发脾气,Temper tantrums that occur more frequently than usual. ,校对中... +HP:0025162,Severe temper tantrums ,严重脾气爆发/大发脾气,"Temper tantrums whose severity is more severe than usual. For instance, a temper tantrum might be considered to be severe if a child loses control so completely that the child cannot control the tantrum on its own, continuing until it becomes exhausted or a parent intervenes. ",校对中... +HP:0025163,Abnormality of optic chiasm morphology ,视交叉形态异常,"A structural abnormality of the optic chiasm.The optic chiasm, located below the hypothalamus, is a partial crossing of the optic nerves. ",校对中... +HP:0025167,Fragmented elastic fibers in the dermis ,真皮弹性纤维碎裂,Elastic fibers in the dermis exhibit an increased number of breaks associated with disorganization of the structure of the elastic fibers. ,校对中... +HP:0025168,Left ventricular diastolic dysfunction ,左心室舒张功能障碍,Abnormal function of the left ventricule during left ventricular relaxation and filling. ,校对中... +HP:0025169,Left ventricular systolic dysfunction ,左心室收缩功能障碍,"Abnormality of left ventricular contraction, often defined operationally as an ejection fraction of less than 40 percent. ",校对中... +HP:0025175,Honeycomb lung ,蜂窝状肺,"Honeycombing represents destroyed and fibrotic lung tissue containing numerous cystic airspaces with thick fibrous walls, representing the late stage of various lung diseases, with complete loss of acinar architecture. The cysts range in size from a few millimeters to several centimeters in diameter, have variable wall thickness, and are lined by metaplastic bronchiolar epithelium. On chest radiographs, honeycombing appears as closely approximated ring shadows, typically 3-10 mm in diameter with walls 1-3 mm in thickness, that resemble a honeycomb; the finding implies end-stage lung disease. On CT scans, the appearance is of clustered cystic air spaces, typically of comparable diameters on the order of 3-10 mm but occasionally as large as 2.5 cm. Honeycombing is usually subpleural and is characterized by well-defined walls. It is a CT feature of established pulmonary fibrosis. Because honeycombing is often considered specific for pulmonary fibrosis and is an important criterion in the diagnosis of usual interstitial pneumonia, the term should be used with care, as it may directly impact patient care. ",校对中... +HP:0025177,Peribronchovascular interstitial thickening ,支气管周围血管间质增厚,"Thickening of the peribronchovascular interstitium, a connective tissue sheath that surrounds the central bronchi and pulmonary arteries. The peribronchovascular interstitium extends from the level of the pulmonary hila into the peripheral lung. This feature may be ascertained on high-resolution computer tomography. ",校对中... +HP:0025178,Subpleural interstitial thickening ,胸膜下间质增厚,Increase in thickness of the subpleural interstitium. ,校对中... +HP:0025179,Ground-glass opacification ,毛玻璃样结构,"On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within whichmargins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. ",校对中... +HP:0025180,Centrilobular ground-glass opacification on pulmonary HRCT ,肺部HRCT可见小叶中心性毛玻璃样结构,A hazy area of increased attenuation in centrilobular areas of the lung with preserved bronchial and vascular markings seen on a computer tomography scan. Centrilobular refers to a location that is central within secondary pulmonary lobules. ,校对中... +HP:0025186,Marcus Gunn jaw winking synkinesis ,Marcus-Gunn下颌眼睑联动综合征,"Unilateral ptosis with associated upper eyelid contraction and contraction of either the external or the internal pterygoid muscle. It is thought to occur because of congenital miswiring of a branch of the fifth cranial nerve into the branch of the third cranial nerve supplying the levator muscle. In Marcus Gunn jaw winking synkinesis, elevation and even retraction of the affected eyelid is triggered by chewing, suction, lateral mandible movement, smiling, sternocleidomastoid contraction, protruding tongue, Valsalva manoeuvre and even by breathing. ",校对中... +HP:0025188,Retinal vasculitis ,视网膜血管炎,"Inflammation of retinal blood vessels as manifested by perivascular sheathing or cuffing, vascular leakage and/or occlusion. ",校对中... +HP:0025190,Bilateral tonic-clonic seizure with generalized onset ,双侧强直- 阵挛发作,A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterised by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure. ,校对���... +HP:0025194,Morgagni diaphragmatic hernia ,Morgagni膈疝,An anterior retrosternal or parasternal hernia that can result in the herniation of liver or intestines into the chest cavity. ,校对中... +HP:0025196,Increased total iron binding capacity ,总铁结合力增高,"An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. ",校对中... +HP:0025201,Abnormal circulating apolipoprotein concentration ,载脂蛋白水平异常,"A deviation from the normal concentration in blood of an apolipoprotein, i.e., of a protein that binds lipids to form lipoprotein and is thereby responsible for the transport of lipids in the blood and lymph circulation. ",校对中... +HP:0025230,Tendonitis ,肌腱炎,Inflammation of a tendon. ,校对中... +HP:0025232,Bursitis ,滑囊炎,Inflammation of a synovial bursa. ,校对中... +HP:0025234,Parasomnia ,异态睡眠,"An undesirable physical event or experience that occurs during entry into sleep, during sleep, or during arousal from sleep. ",校对中... +HP:0025236,Somnambulism ,梦游症,"Ambulation or other complex motor behaviors after getting out of bed in a sleep-like state. During sleepwalking episodes, the sonambulating individual appears confused or dazed, the eyes are usually open, and he or she might mumble or give inappropriate answers to questions, or occasionally appear agitated. ",校对中... +HP:0025237,Confusional arousal ,觉醒障碍,"A nocturnal episode characterized by disorientation, grogginess, and, at times, substantial agitation upon awakening from slow-wave sleep or following forced awakenings. These characteristics might present as agitation, crying or moaning, disorientation, and particularly slow mentation on arousal from sleep (i.e., sleep inertia). The duration of episodes is typically 5 to 15 min but they might last up to several hours. ",校对中... +HP:0025238,Foot pain ,足痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the foot. ",校对中... +HP:0025244,Subretinal pigment epithelium hemorrhage ,视网膜色素上皮下出血,An accumulation of blood located between the retinal pigment epithelium (RPE) and Bruch's membrane. ,校对中... +HP:0025247,Dermoid cyst ,皮样囊肿,"A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts areslowly progressive and can grow to a size of 1 to 4 cm. ",校对中... +HP:0025248,Eruptive vellus hair cyst ,发疹性毛发囊肿,"A cutaneous cyst that is small (one or two millimeters in diameter) and painless, presenting as a follicular papule that usually is skin colored but may have a reddish or brownish tinge. ",校对中... +HP:0025249,Comedo ,粉刺,"A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle). ",校对中... +HP:0025252,Geographic tongue ,地图舌,"An anomaly of the tongue characterized by loss (atrophy) of filiform papillae of the tongue, leaving areas of erythema (redness), surrounded by a serpiginous, white, hyperkeratotic border. The name geographic tongue refers to an appearance that is said to be similar to a map. ",校对中... +HP:0025258,Stiff neck ,颈部僵硬,"A sensation of tightness in the neck when attempting to move it, especially after a period of inactivity. Neck stiffness often involves soreness and difficulty moving the neck, especially when trying to turn the head to the side. ",校对中... +HP:0025259,Stiff elbow ,肘部僵硬,"A sensation of tightness in the elbow joint when attempting to move it, especially after a period of inactivity. ",校对中... +HP:0025262,Stiff hip ,髋部僵硬,"A sensation of tightness in the hip joint when attempting to move it, especially after a period of inactivity. ",校对中... +HP:0025263,Stiff knee ,膝部僵硬,"A sensation of tightness in the knee joint when attempting to move it, especially after a period of inactivity. ",校对中... +HP:0025264,Stiff ankle ,踝部僵硬,"A sensation of tightness in the ankle joint when attempting to move it, especially after a period of inactivity. ",校对中... +HP:0025267,Snoring ,打鼾,"Deep, noisy breathing during sleep accompanied by hoarse or harsh sounds caused by the vibration of respiratory structures (especially the soft palate) resulting in sound due to obstructed air movement during breathing while sleeping. ",校对中... +HP:0025268,Stuttering ,口吃,"Disruptions in the production of speech sounds, with involuntary repetitions of words or parts of words, prolongations of speech sounds, or complete blockage of speech production for several seconds. ",校对中... +HP:0025269,Panic attack ,惊恐发作（急性焦虑发作）,A sudden episode of intense fear in a situation in which there is no danger or apparent cause. ,校对中... +HP:0025271,Esophageal spasms ,食管痉挛,"Involuntary contractions of the esophagus that are irregular, uncoordinated, and painful. ",校对中... +HP:0025274,Ovarian dermoid cyst ,卵巢皮样囊肿,"An cystic ovarian teratoma composed of dermal and epidermal elements and containing tissue components including hair, teeth, bone, thyroid, and others. ",校对中... +HP:0025289,Cervical lymphadenopathy ,颈部淋巴结病变,Enlarged lymph nodes in the neck. ,校对中... +HP:0025300,Malar rash ,颧部皮疹,"An erythematous (red), flat facial rash that affects the skin in the malar area (over the cheekbones) and extends over the bridge of the nose. ",校对中... +HP:0025312,Esophoria ,内隐斜,"A form of strabismus with both eyes turned inward to a relatively mild degree, usually defined as less than 10 prism diopters. ",校对中... +HP:0025313,Exophoria ,外隐斜,A form of strabismus with one or both eyes deviated outward to a milder degree than with exotropia. ,校对中... +HP:0025318,Ovarian carcinoma ,卵巢癌,A malignant neoplasm originating from the surface ovarian epithelium. ,校对中... +HP:0025321,Copper accumulation in liver ,肝内铜沉积,An anomalous build up of copper (Cu) in the liver. ,校对中... +HP:0025324,Arterial occlusion ,动脉闭塞,Blockage of blood flow through an artery. ,校对中... +HP:0025325,Sparse medial eyebrow ,内侧眉毛稀疏,Decreased density/number and/or decreased diameter of medial eyebrow hairs. ,校对中... +HP:0025326,Retinal arterial occlusion ,视网膜动脉阻塞,"Blockage of the retinal artery, generally associated with interruption of blood flow and oxygen delivery to the retina. ",校对中... +HP:0025328,Antepartum hemorrhage ,产前出血,Significant maternal hemorrhage/bleed in the second half of pregnancy and prior to the birth of the baby. ,校对中... +HP:0025329,Anti-glutamic acid decarboxylase antibody positivity ,抗谷氨酸脱羧酶抗体阳性,The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. ,校对中... +HP:0025330,Downgaze palsy ,向下凝视麻痹,A limitation of the ability to direct one's gaze below the horizontal meridian. ,校对中... +HP:0025331,Upgaze palsy ,向上凝视麻痹,A limitation of the ability to direct one's gaze above the horizontal meridian. ,校对中... +HP:0025335,Delayed ability to stand ,站立能力延迟,"A failure to achieve the ability to stand up at an appropriate developmental stage. Most children begin to walk alone at 11 to 15 months of age. On average, children can stand while holding on at the age of 9 to 10 months, can pull up to stand and walk with one hand being held at 12 months, and can stand alone and walk well at 18 months. ",校对中... +HP:0025336,Delayed ability to sit ,独坐能力延迟,A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. ,校对中... +HP:0025337,Red eye ,红眼,A reddish appearance over the white part (sclera) of the eye ranging from a few enlarged blood vessels appearing as wiggly lines over the sclera to a bright red color completely covering to sclera. ,校对中... +HP:0025343,Lupus anticoagulant ,狼疮抗凝剂,"Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. ",校对中... +HP:0025347,Decreased circulating beta-2-microglobulin level ,循环β2-微球蛋白水平降低,Reduced concentration of beta-2-microglobulin in the blood. ,校对中... +HP:0025348,Abnormality of the corneal limbus ,角膜缘异常,An anomaly of the margin of the cornea overlapped by the sclera. ,校对中... +HP:0025349,Limbal edema ,角膜缘水肿,Swelling of the margin of the cornea overlapped by the sclera. ,校对中... +HP:0025352,Autosomal dominant germline de novo mutation ,常染色体显性胚系新生突变,Being related to a mutation that gamete that participates in fertilization. All cells of the emerging organism will be affected and the variant canl be passed on to the next generation. ,校对中... +HP:0025354,Abnormal cellular phenotype ,细胞表型异常,An anomaly of cellular morphology or physiology. ,校对中... +HP:0025355,Retinal arterial macroaneurysms ,视网膜大动脉瘤,"Acquired focal dilatations of branches of the retinal artery, usually second-order retinal arterioles, that range in size from 100 to 200 micrometers in diameter. Macroaneurysms are generally located at the termporal retina and may be hemorrhagic or exudative. ",校对中... +HP:0025356,Psychomotor retardation ,精神运动发育迟缓, , +HP:0025357,Erratic myoclonus ,不规则肌阵挛,"A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous. ",校对中... +HP:0025358,Uveal ectropion ,葡萄膜外翻,Presence of iris pigment epithelium on the anterior surface of the iris. ,校对中... +HP:0025361,Abnormality of medullary pyramid morphology ,髓锥体形态异常,"A structural anomaly of the pyramid of the adult kidney, cone-shaped structures with a broad base adjacent to the renal cortex and the narrow apex that is termed papilla. ",校对中... +HP:0025369,Thick growth plates ,生长板增厚,Increased thickness (dimension along the axis of the bone) of the growth plate. ,校对中... +HP:0025372,Loud snoring ,鼾声大,"Particularly loud snoring, snoring at high volume. ",校对中... +HP:0025379,Anti-thyroid peroxidase antibody positivity ,抗甲状腺过氧化物酶抗体阳性,The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. ,校对中... +HP:0025380,Increased circulating androstenedione concentration ,血液雄烯二酮升高,Increased concentration of androstenedione in the blood circulation. ,校对中... +HP:0025383,Dorsocervical fat pad ,颈背部脂肪垫,An area of fat accumulation at the back of the neck in the form of a hump. ,校对中... +HP:0025386,Bitemporal hollowing ,双侧颞骨塌陷,Depression of profile in both temporal regions. ,校对中... +HP:0025387,Pill-rolling tremor ,搓丸样震颤,A type of resting tremor characterized by simultaneous rubbing movements of thumb and index fingers against each other. ,校对中... +HP:0025388,Thyroid nodule ,甲状腺结节,"A nodular lesion that develops in the thyroid gland. The term ""thyroid nodule"" refers to any abnormal growth that forms a lump in the thyroid gland. ",校对中... +HP:0025390,Reticular pattern on pulmonary HRCT ,肺部HRCT可见网状结构,"On pulmonary high-resolution computed tomography, reticular pattern is characterised by innumerable interlacing shadows suggesting a mesh. ",校对中... +HP:0025391,Crazy paving pattern ,肺部HRCT可见铺石路状结构,"The so-called crazy paving pattern is characterised on HRCT by the presence of thickened interlobular septae and intralobular lines superimposed on a background of ground-glass opacity, resembling irregularly shaped paving stones. ",校对中... +HP:0025392,Nodular pattern on pulmonary HRCT ,HRCT可见肺部结节状结构,"A nodular pattern is characterised on pulmonary high-resolution computed tomography by the presence of numerous rounded opacities that range from 2 mm to 1 cm in diameter, with micronodules defined as smaller than 3 mm in diameter. ",校对中... +HP:0025393,Reticulonodular pattern on pulmonary HRCT ,肺部HRCT可见网状结节状结构,Co-occurrence of reticular and micronodular patterns on pulmonary high-resolution computed tomography. ,校对中... +HP:0025394,Cystic pattern on pulmonary HRCT ,肺部HRCT可见囊状结构,"On pulmonary high-resolution computed tomography, the cystic pattern is composed by well-defined, round and circumscribed air-containing parenchymal spaces with a well-defined wall and interface with normal lung. The wall of the cysts may be uniform or varied in thickness, but usually is thin (less than 2 mm) and occurs without associated emphysema. ",校对中... +HP:0025395,Combined cystic and ground-glass pattern on pulmonary HRCT ,肺部HRCT可见囊状与毛玻璃样结构,"Co-occurrence of the cystic pattern and the ground-glass pattern on pulmonary high-resolution computed tomography, ",校对中... +HP:0025401,Staring gaze ,凝视,An abnormality in which the eyes are held permanently wide open. ,校对中... +HP:0025402,Square-wave jerks ,方波急跳,"Square wave jerks are saccadic eye movements which, when recorded with open eyes are considered to be a pathological sign, caused by fixation instability, and pointing to a central neurological lesion. ",校对中... +HP:0025403,Stooped posture ,弯腰姿势,A habitual positioning of the body with the head and upper back bent forward. ,校对中... +HP:0025404,Abnormal visual fixation ,注视异常,"Any anomaly in the process of ocular fixation, which is the maintaining of the visual gaze on a single location. ",校对中... +HP:0025405,Visual fixation instability ,固视不稳定,A deficit in the ability to fixate eye movements in order to stabilize images on the retina ,校对中... +HP:0025406,Asthenia ,虚弱,A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. ,校对中... +HP:0025408,Abnormal spleen morphology ,脾脏形态异常,Any anomaly of the structure of the spleen. ,校对中... +HP:0025416,Vaginal stricture ,阴道狭窄,A narrowing of the vagina owing to scar formation. ,校对中... +HP:0025419,Pulmonary pneumatocele ,肺气肿,"A pneumatocele is a thin walled, gas-filled space in the lung. It is most frequently caused by acute pneumonia, trauma, or aspiration of hydrocarbon fluid and is usually transient. The mechanism is believed to be a combination of parenchymal necrosis and check-valve airway obstruction. A pneumatocele appears as an approximately round, thin-walled airspace in the lung. ",校对中... +HP:0025420,Diffuse alveolar hemorrhage ,弥漫性肺泡出血,"A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. ",校对中... +HP:0025425,Laryngospasm ,喉痉挛,A spasm (involuntary contraction) of the vocal cords that can make it difficult to speak or breathe. ,校对中... +HP:0025426,Abnormal bronchus morphology ,支气管形态异常,"Any structural anomaly of the bronchi, i.e., of the airways leading from the trachea to the lungs. ",校对中... +HP:0025427,Abnormal bronchus physiology ,支气管异常生理学,Any anomaly of the function of the bronchi. ,校对中... +HP:0025428,Bronchospasm ,支气管痉挛,"A spasm (sudden, involuntary constriction) of the bronchioles. ",校对中... +HP:0025429,Abnormal cry ,哭声异常,"Any anomaly of the vocalizing of an infant's crying, i.e.,the typically loud voice production that is accompanied by tears and agitation. ",校对中... +HP:0025430,High-pitched cry ,高调哭声,A type of crying in an abnormally high-pitched voice. ,校对中... +HP:0025431,Staccato cry ,断续的哭,A type of cry that is abnormal because it is consists of unusually shortened and detached vocalizations. ,校对中... +HP:0025434,Reduced hemolytic complement activity ,溶血补体活性减弱,A diminished activity of the classical complement pathway as measured by the assay for 50% haemolytic complement (CH50) activity of serum. ,校对中... +HP:0025435,Increased circulating lactate dehydrogenase concentration ,乳酸脱氢酶活性增高,An elevated level of the enzyme lactate dehydrogenase in the blood circulation. ,校对中... +HP:0025436,Elevated serum 11-deoxycortisol ,血清11-脱氧皮质醇升高,"Increased concentration of 11-deoxycortisol in the circulation. 11-deoxycorticosterone, which is also known as simply deoxycorticosterone and 21-hydroxyprogesterone, is a steroid hormore that is produces in the adrenals and is a precursor to aldosterone. ",校对中... +HP:0025437,Macrocephalic sperm head ,大头精子,Increased size of the head of sperm. ,校对中... +HP:0025439,Pharyngitis ,咽炎,Inflammation (due to infection or irritation) of the pharynx. ,校对中... +HP:0025441,Achilles tendon calcification ,跟腱钙化,Ectopic deposition of calcium salts in the Achilles tendon. ,校对中... +HP:0025444,Reduced amygdala volume ,杏仁核体积减小,A decrease in the volume (size) of the amygdyla. ,校对中... +HP:0025451,Testicular adrenal rest tumor ,睾丸肾上腺残余肿瘤,"Testicular adrenal rest tumor (TART) is a abenign tumor of the testis. TART generally occurs multiply and bilaterally within the rete testis. Histologically, TART resemble adrenocortical tissue, which led to the name. The tumous are not encapsulated and consist of sheets or confluent cords of large polygonal cells with abundant eosinophilic cytoplasm. ",校对中... +HP:0025452,Pyoderma gangrenosum ,坏疽性脓皮病,"A deep skin ulcer with a well defined border, which is usually violet or blue. The ulcer edge is often undermined (worn and damaged) and the surrounding skin is erythematous and indurated. The ulcer often starts as a small papule or collection of papules, which break down to form small ulcers with a so called cat's paw appearance. These coalesce and the central area then undergoes necrosis to form a single ulcer. ",校对中... +HP:0025455,Decreased CSF 5-hydroxyindolacetic acid ,脑脊液中5-羟基吲哚乙酸下降,CSF 5-HIAA (5-hydroxyindolacetic acid) level is below the lower limit of normal. ,校对中... +HP:0025457,Decreased CSF protein ,脑脊液蛋白下降,CSF total protein level is below the lower limit of normal. ,校对中... +HP:0025458,Decreased CSF albumin concentration ,脑脊液白蛋白下降,CSF albumin level is below the lower limit of normal. ,校对中... +HP:0025460,High myoinositol in brain by MRS ,MRS分析大脑肌醇水平偏高,An elevated level of myoinositol in the brain identified by magnetic resonance spectroscopy (MRS). ,校对中... +HP:0025461,Abnormal cell morphology ,细胞形态异常,Any anomaly of cell structure. ,校对中... +HP:0025466,Beta 2-microglobulinuria ,β2-微球蛋白尿症,Increased level of beta 2-microglobulins in the urine. ,校对中... +HP:0025473,Hyperpigmented papule ,色素沉着性丘疹,"A papule (circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point) that exhibits increased pigmentation (is darker) compared to the surrounding skin. ",校对中... +HP:0025474,Erythematous plaque ,红斑,"A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. ",校对中... +HP:0025475,Erythematous macule ,红斑病,"A macule (flat, distinct, discolored area of skin less than 1 cm wide that does not involve any change in the thickness or texture of the skin) with a red or reddish color often associated with inflammation or irritation. ",校对中... +HP:0025477,Periarticular calcification ,关节周围钙化,Calcified deposits in soft tissue structures outside a joint. ,校对中... +HP:0025478,Atrial standstill ,心房静止,"Atrial standstill or silent atrium is a rare condition presenting with the absence of electrical and mechanical activity in the atria. It presents with the absence of P waves, bradycardia, and wide QRS complex in the electrocardiogram. ",校对中... +HP:0025479,Self-neglect ,自我忽视,Neglecting one's own needs and well-being. ,校对中... +HP:0025481,Cervical hemivertebrae ,颈椎半椎体,Absence of one half of the vertebral body in the cervical spine. ,校对中... +HP:0025482,Positive perchlorate discharge test ,过氯酸盐释放试验阳性,"An abnormal result of the perchlorate discharge test. In this test, first radioactive iodine is administered, sufficinet time is allowed to pass so that the radioactive iodine is captured by the thyroid,and then, perchlorate is administered orally. The perchlorate displaces non-organified iodide from the thyroid. The perchlorate discharge test is considered positive (abnormal) if there is an abnormally rapid loss of radioactive iodine from the thyroid. ",校对中... +HP:0025483,Abnormal circulating thyroglobulin level ,循环甲状腺球蛋白水平异常,"A deviation from the normal concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. ",校对中... +HP:0025484,Increased circulating thyroglobulin level ,循环甲状腺球蛋白水平增高,"An abnormal elevation of the concentration of thyroglobulin, a protein produced in the thyroid gland that acts as a precursor to thyrroid hormones. ",校对中... +HP:0025486,Fused labia majora ,融合大阴唇,The outer labia are sealed together. ,校对中... +HP:0025487,Abnormality of bladder morphology ,膀胱形态异常,Any structural anomaly of the bladder. ,校对中... +HP:0025488,Detrusor sphincter dyssynergia ,逼尿肌括约肌协同失调,A urodynamic anomaly characterized by bladder outlet obstruction from detrusor muscle contraction with concomitant involuntary urethral sphincter activation. ,校对中... +HP:0025492,Microcoria ,小瞳孔,A small pupil (typically diameter less than 2 mm) that dilates poorly or not at all in response to topically administered mydriatic drugs. ,校对中... +HP:0025493,Palmoplantar erythema ,掌跖红斑,Redness of the skin of the palm of the hand and the sole of the foot caused by hyperemia of the capillaries in the lower layers of the skin. ,校对中... +HP:0025496,Abnormal coronary artery physiology ,冠状动脉生理异常,Any anomaly of the function of a coronary artery. ,校对中... +HP:0025498,Aceruloplasminemia ,铜蓝蛋白缺乏症,Absence of ceruloplasmin in the blood. ,校对中... +HP:0025502,Overweight ,超重,Increased body weight with a body mass index of 25-29.9 kg per square meter. ,校对中... +HP:0025507,Yellow papule ,黄色丘疹,A papule with yellow color. ,校对中... +HP:0025509,Piezogenic pedal papules ,压迫性足部丘疹,"Flesh-colored or yellowish papules, 2 mm or larger, that are responses to internal mechanical pressure and weakness in the connective tissue in the dermis, appear commonly over the medial aspect of the heel, but in some cases on the wrists. They are thought to represent herniations of adipose tissue through the plantar fascia retinaculum. ",校对中... +HP:0025510,Nevus spilus ,斑痣,"A tan, regularly bordered patch with darker macules within the lesion. ",校对中... +HP:0025512,Skin-colored papule ,肤色丘疹,A papule with the same color as the surrounding skin. ,校对中... +HP:0025513,Scleral rupture ,巩膜破裂,Breakage of the sclera. ,校对中... +HP:0025514,Morning glory anomaly ,牵牛花样视盘发育异常,An abnormality of the optic nerve in which the optic nerve is large and funneled and displays a conical excavation of the optic disc. The optic disc appears dysplastic. ,校对中... +HP:0025515,Delayed thelarche ,乳房发育延迟,Later than normal development of the breasts. ,校对中... +HP:0025516,Coronary-pulmonary artery fistula ,冠状肺动脉瘘,A congenital malformation with abnormal connection between one of the coronary arteries and the pulmonary artery. ,校对中... +HP:0025517,Hypoplastic hippocampus ,海马回发育不良,Underdevelopment of the hippocampus. ,校对中... +HP:0025520,Calcinosis cutis ,皮肤钙质沉着症,Deposition of calcium in the skin. ,校对中... +HP:0025524,Palmoplantar scaling skin ,掌跖鱼鳞样皮损,"Loss of the outer layer of the epidermis in large, scale-like flakes localized to the palm of the hand and the sole of the foot. ",校对中... +HP:0025525,Scaling skin on fingertip ,指尖鱼鳞样皮损,"Loss of the outer layer of the epidermis in large, scale-like flakes localized to one or more fingertips. ",校对中... +HP:0025526,Psoriasiform lesion ,银屑病样皮损,"A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus. ",校对中... +HP:0025528,Annular cutaneous lesion ,环状皮肤病变,A lesion of the skin with a ring-like distribution. ,校对中... +HP:0025533,Peau d'orange ,桔皮化, , +HP:0025534,Ocular melanocytosis ,巩膜黑变病,A congenital lesion of the sclera characterized by unilateral patchy but extensive slate-gray or bluish discoloration of the sclera . The conjunctiva are spared. ,校对中... +HP:0025547,Decreased mean corpuscular hemoglobin concentration ,红细胞平均血红蛋白量减低,"A reduction from the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). A reduced mean corpuscular hemoglobin (MCH) may indicate a hypochromic anemia, but the MCH may be normal if both the total hemoglobin and the red blood cell count are reduced. ",校对中... +HP:0025548,Increased mean corpuscular hemoglobin concentration ,红细胞平均血红蛋白量增多,An elevation over the normal range of the average amount of hemoglobin per red blood cell (27 to 31 picograms/cell). ,校对中... +HP:0025549,Eccentric visual fixation ,偏心注视,A uniocular condition in which there is fixation of an object by a point other than the fovea. This point adopts the principal visual direction. The degree of the eccentric fixation is defined by its distance from the fovea in degrees. ,校对中... +HP:0025550,Elevated circulating ribitol concentration ,核糖醇浓度增高,An increase above the normal concentration of ribitol in the blood. ,校对中... +HP:0025551,Optic nerve misrouting ,视神经错路,"Abnormal decussation of the visual pathways, typically identified using visual evoked potentials (VEP) (asymmetrical distribution of the VEP over the posterior scalp). ",校对中... +HP:0025572,Punctal stenosis ,泪小点膜性闭塞,Punctal stenosis is a condition in which the external opening of the lacrimal canaliculus is narrowed or occluded. ,校对中... +HP:0025573,Mild myopia ,轻度近视,A mild form of myopia with up to -3.00 diopters. ,校对中... +HP:0025574,Macular hemorrhage ,黄斑出血,Bleeding occurring within the macula lutea of the retina. ,校对中... +HP:0025576,Abnormal inferior vena cava morphology ,下腔静脉畸形,Any structural anomaly of the principal vein draining blood from the lower portion of the body. ,校对中... +HP:0025584,Hypotropia ,下斜视,A form of manifest strabismus (heterotropia) in which one eye is deviated downwards when both eyes are open. ,校对中... +HP:0025586,Hypertropia ,上斜视,A type of strabismus characterized by permanent upward deviation of the visual axis of one eye. ,校对中... +HP:0025599,Inferior oblique muscle overaction ,下斜肌动作亢进,"A common ocular motility disorder characterized by vertical incomitance of the eyes in lateral gaze. In primary inferior oblique muscle overaction, an upshoot of the adducting eye occurs when gaze is directed into the field of action of the inferior oblique muscle, producing a greater upward excursion of the adducted eye than of the abducted eye. ",校对中... +HP:0025605,Lid lag on downgaze ,上睑闭合延迟,Delayed descent of the upper eyelid on downgaze. Also described by some authors as von Graefe sign. ,校对中... +HP:0025607,Upper eyelid entropion ,上眼睑内翻,An inward turning (inversion) of the margin of the upper eyelid. ,校对中... +HP:0025608,Cicatricial ectropion ,瘢痕性睑外翻,"An outward turning (eversion) or rotation of the eyelid margin (i.e., ectropion) caused by shortening or contraction of the anterior or middle lamellae related to scarring. ",校对中... +HP:0025610,Posterior blepharitis ,后睑缘炎,"A type of blepharitis that affects the meibomian glands and meobomian gland orifices. This abnormality can be associated with a spectrum of appearances ranging from meibomian seborrhoea (foaming meibomian gland secretions) and meibomianitis (inflamed meibomian glands), to chalazia. ",校对中... +HP:0025612,Corneal astigmatism ,角膜性散光,A type of refractive error related abnormal curvatures on the anterior or posterior surface of the cornea. ,校对中... +HP:0025615,Abscess ,脓肿, , +HP:0025616,Sterile abscess ,无菌性脓肿,"An abscess not caused by infection with pyogenic bacteria. Operationally, a sterile abscess is inferred if investigations of an abscess fail to reveal evidence of pathogenic organisms. ",校对中... +HP:0025630,Argininosuccinic aciduria ,精氨酸琥珀酸酯尿症,Increased amount of argininosuccinate in the urine. ,校对中... +HP:0025632,Reduced reactive oxygen species production in neutrophils ,中性粒细胞活性氧产生降低, , +HP:0025643,Tarlov cyst ,塔洛夫囊肿,A cerebrospinal fluid-filled nerve root cyst most often localized in the sacral spine. ,校对中... +HP:0025650,Steroid-dependent nephrotic syndrome ,类固醇依赖性肾病综合征（激素依赖性肾病综合征）,"A type of nephrotic syndrome in which two consecutive relapses (albumin urine dipstick at least 3+ or proteinuria greater than 40 mg/m2/d or urinary protein to creatinine ratio at least 2000 mg/g for 3 consecutive days) occur during corticosteroid therapy, or within 14 days of ceasing therapy. ",校对中... +HP:0025656,未找到信息,-,-,- +HP:0025670,未找到信息,-,-,- +HP:0025680,未找到信息,-,-,- +HP:0025681,未找到信息,-,-,- +HP:0025705,未找到信息,-,-,- +HP:0025708,未找到信息,-,-,- +HP:0025709,未找到信息,-,-,- +HP:0025710,未找到信息,-,-,- +HP:0025711,未找到信息,-,-,- +HP:0025717,未找到信息,-,-,- +HP:0025724,未找到信息,-,-,- +HP:0030001,Lagopthalmos ,睑裂闭合不全,A condition in which the eyelids do not close to cover the eye completely. ,校对中... +HP:0030002,Nocturnal lagophthalmos ,睡眠时睑闭合不全,The inability to close the eyelids during sleep. ,校对中... +HP:0030004,Cicatricial lagophthalmos ,瘢痕性睑裂闭合不全,A type of lagophthalmos that occurs following trauma or surgery. ,校对中... +HP:0030005,Capillary leak ,毛细血管渗漏,"An acute phenomenon characterized by hypotension and anasarca due to the loss of plasma volume into peripheral tissues, with evidence of decreased plasma volume (hemoconcentration) and protein loss from the intravascular space (hypoalbuminemia) during acute episodes. ",校对中... +HP:0030007,EMG: positive sharp waves ,肌电图: 正锐波,"These are spontaneous firing action potentials stimulated by needle movement of an injured muscle fiber. There is propagation to, but not past, the needle tip. This inhibits the display of the negative deflection of the waveform. ",校对中... +HP:0030009,Cervical insufficiency ,宫颈机能不全,A cervix that shows a painless dilation and shortening during the second trimester of pregnancy with resultant recurrent pregnancy loss or delivery is considered incompetent ,校对中... +HP:0030010,Hydrometrocolpos ,子宫阴道积水,Hydrometrocolpos is an accumulation of uterine and vaginal secretions as well as menstrual blood in the uterus and vagina. ,校对中... +HP:0030011,Imperforate hymen ,处女膜闭锁,A congenital disorder where the hymen (a membrane that surrounds or partially covers the external vaginal opening) does not have an opening and completely obstructs the vagina. ,校对中... +HP:0030014,Female sexual dysfunction ,女性性功能障碍,A problem occurring during any phase of the female sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity ,校对中... +HP:0030015,Female anorgasmia ,女性性感缺失病,"The persistent of recurrent difficulty, delay in, or absence of attaining orgasm following sufficient sexual stimulation and arousal. ",校对中... +HP:0030016,Dyspareunia ,性交疼痛,Recurrent or persistent genital pain associated with sexual intercourse. ,校对中... +HP:0030018,Decreased female libido ,女性性欲降低,Dminished sexual desire in female. ,校对中... +HP:0030019,Increased female libido ,女性性欲亢进,Elevated sexual desire in female ,校对中... +HP:0030021,Auricular tag ,耳赘,Small protrusion within the pinna. ,校对中... +HP:0030022,Question mark ear ,问号状耳,Cleft between the helix and the lobe. ,校对中... +HP:0030025,Auricular pit ,耳凹,"Small indentation in the lower part of the ascending helix, concha, or in the crus helix. ",校对中... +HP:0030026,Squared superior portion of helix ,耳轮方形上部,"Flattening instead of curving or rounded superior helix, allowing the superior helix to run more horizontally than usual. ",校对中... +HP:0030032,Partial absence of foot ,足部分缺如,"An incomplete absence of the foot, with no bony elements distal to the tarsals, but with preservation of some or all of the tarsals. ",校对中... +HP:0030033,Small finger ,小指,"Significant reduction in both length and girth of the finger compared to the contralateral finger, or alternatively, compared to a typical finger size for an age-matched individual. ",校对中... +HP:0030034,Glomerular basement membrane lamellation ,薄肾小球基底膜病,Presence of abnormal additional layers of the basement membrane of the glomerulus. ,校对中... +HP:0030036,Isothenuria ,等渗尿,Inability of the kidneys to produce either concentrated or dilute urine. ,校对中... +HP:0030037,Bifid ureter ,分叉型输尿管,Incomplete duplication of the ureter. ,校对中... +HP:0030038,Enchondroma ,内生软骨瘤,"A solitary, benign, intramedullary cartilage tumor that is often found in the short tubular bones of the hands and feet, distal femur, and proximal humerus. ",校对中... +HP:0030039,Fused thoracic vertebrae ,胸椎融合,A congenital anomaly characterized by a joining (fusion) of two or more thoracic vertebral bodies with one another. ,校对中... +HP:0030041,Schmorl's node ,Schmorl's结节,A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra. ,校对中... +HP:0030042,Incomplete ossification of pubis ,耻骨骨化不全,Failure to complete ossification (maturation and calcification) of the pubic bone. ,校对中... +HP:0030043,Hip subluxation ,髋关节半脱位,"A partial dislocation of the hip joint, whereby the head of the femur is partially displaced from the socket. ",校对中... +HP:0030044,Flexion contracture of digit ,指/趾屈曲挛缩,"A bent (flexed) finger or toe joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. ",校对中... +HP:0030046,Hypoglycosylation of alpha-dystroglycan ,α-抗肌萎缩蛋白聚糖糖基化不良,A reduction in the degree of glycosylation of alpha-dystroglycan in muscle tissue. ,校对中... +HP:0030047,Abnormal lateral ventricle morphology ,侧脑室形态异常,A morphological anomaly of the lateral ventricle. ,校对中... +HP:0030048,Colpocephaly ,枕角扩大畸形,Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. ,校对中... +HP:0030049,Brain abscess ,脑脓肿,"A collection of pus, immune cells, and other material in the brain. ",校对中... +HP:0030050,Narcolepsy ,发作性睡病,"An abnormal phenomenon characterized by a classic tetrad of excessive daytime sleepiness with irresistible sleep attacks, cataplexy (sudden bilateral loss of muscle tone), hypnagogic hallucination, and sleep paralysis. ",校对中... +HP:0030051,Tip-toe gait ,脚尖步,An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait. ,校对中... +HP:0030052,Inguinal freckling ,腹股沟雀斑,"The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin. ",校对中... +HP:0030053,Stiff skin ,硬皮,An induration (hardening) of the skin ,校对中... +HP:0030054,Perifollicular fibrosis ,毛囊周围纤维化,Presence of excess fibrous connective tissue surrounding hair follicules. ,校对中... +HP:0030056,Uncombable hair ,蓬发,"Hair that is disorderly, stands out from the scalp, and cannot be combed flat. ",校对中... +HP:0030057,Autoimmune antibody positivity ,自身免疫性抗体阳性,The presence of an antibody in the blood circulation that is directed against the organism's own cells or tissues. ,校对中... +HP:0030058,Sickled erythrocytes ,镰状红细胞,"An irreversible distortion of the morphology of an erythrocyte such that the cells are elongated and curved, resembling the blade of a sickle (the hand-held agricultural tool traditionally used to harvest grains). ",校对中... +HP:0030059,Mitochondrial depletion ,线粒体DNA耗竭,An abnormal reduction in mitochondrial DNA content of cells. ,校对中... +HP:0030062,Craniopharyngioma ,颅咽管瘤,A benign pituitary-region neoplasm that originates from Rathke's pouch. Craniopharyngiomas are benign slow growing tumours that are located within the sellar and para sellar region of the central nervous system. ,校对中... +HP:0030067,Peripheral primitive neuroectodermal neoplasm ,外周原始神经外胚层肿瘤,A primitive neuroectodermal neoplasm that occurs extracranially in soft tissue and bone. ,校对中... +HP:0030070,Central primitive neuroectodermal tumor ,中枢性原始神经外胚层肿瘤,A primitive neuroectodermal neoplasm that occurs in the central nervous system. ,校对中... +HP:0030071,Medulloepithelioma ,髓上皮瘤,A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal. ,校对中... +HP:0030072,Paranasal sinus neoplasm ,副鼻窦肿瘤,A tumor that originates in the paranasal sinus. ,校对中... +HP:0030074,Chemodectoma ,化学感受器瘤,"A usually benign neoplasm originating in the chemoreceptor tissue of the carotid body, glomus jugulare, glomus tympanicum, aortic bodies, or the female genital tract. ",校对中... +HP:0030075,Ductal carcinoma in situ ,导管原位癌,"Presence of abnormal cells inside a milk duct, that is, non-invasive breast cancer. Ductal carcinoma in situ is considered to be a precursor lesion to invasive breast cancer. ",校对中... +HP:0030078,Lung adenocarcinoma ,肺腺癌, , +HP:0030079,Cervix cancer ,宫颈癌,A tumor of the uterine cervix. ,校对中... +HP:0030080,Burkitt lymphoma ,Burkitt淋巴瘤,A form of undifferentiated malignant lymphoma commonly manifested as a large osteolytic lesion in the jaw or as an abdominal mass. ,校对中... +HP:0030081,Punctate periventricular T2 hyperintense foci ,脑室周围白质点状T2高信号灶,Multiple pointlike areas of high T2 signal observed upon magnetic resonance imaging of the periventricular cerebral white matter. ,校对中... +HP:0030082,Abnormal drinking behavior ,饮酒行为异常,Abnormal consumption of fluids with excessive or insufficient consumption of fluid or any other abnormal pattern of fluid consumption. ,校对中... +HP:0030083,Salt craving ,嗜盐,An excessive desire to eat salt (sodium chloride) or salty foods. ,校对中... +HP:0030084,Clinodactyly ,指（趾）内弯,An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). ,校对中... +HP:0030087,Abnormal circulating testosterone concentration ,血液睾酮水平异常,An anomalous concentration of testosterone in the blood. ,校对中... +HP:0030088,Increased serum testosterone level ,血清睾酮水平增高,An elevated circulating testosterone level in the blood. ,校对中... +HP:0030089,Abnormal muscle fiber protein expression ,肌纤维蛋白表达异常,An anomalous amount of protein present in or on the surface of muscle fibers. This feature may be appreciate upon immunohistochemical investigation of muscle biopsy tissue. ,校对中... +HP:0030091,Absent muscle fiber merosin ,肌纤维层粘连蛋白α2缺乏,Lack of merosin protein in the muscle biopsy. ,校对中... +HP:0030092,Reduced muscle fiber merosin ,肌纤维层粘连蛋白α2减少,A reduced amount of merosin in muscle fibers. This feature is usually assessed by immunohistochemical examination of muscle biopsy tissue. ,校对中... +HP:0030095,Reduced muscle collagen VI ,肌肉胶原蛋白VI型减少,A decreased amount of collagen VI in muscle tissue. Collagen VI is a primarily associated with the extracellular matrix of skeletal muscle. ,校对中... +HP:0030097,Absent muscle dystrophin expression ,抗肌萎缩蛋白表达缺乏,Lack of dystrophin in muscle tissue. Immunohistochemistry reveals absent dystrophin protein in the muscle biopsy. ,校对中... +HP:0030099,Reduced muscle fiber alpha dystroglycan ,肌纤维α-肌营养不良蛋白聚糖减少,"Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. ",校对中... +HP:0030114,Absent muscle fiber dysferlin ,肌肉纤维铁蛋白缺乏,Immunohistochemistry shows complete lack of dysferlin protein in the muscle biopsy. ,校对中... +HP:0030117,Absent muscle fiber emerin ,肌纤维emerin蛋白缺失,Immunohistochemistry shows complete lack of emerin protein in the muscle biopsy. ,校对中... +HP:0030127,Endometriosis ,子宫内膜异位症,The growth of endometrial tissue outside the uterus. ,校对中... +HP:0030137,Prolonged bleeding following circumcision ,包皮环切术后出血时间延长,Bleeding that persists for a longer than usual time following circumcision. ,校对中... +HP:0030138,Excessive bleeding from superficial cuts ,表皮伤口出血过多,An abnormally increased degree of bleeding following a superfical injury to the surface of the skin. ,校对中... +HP:0030140,Oral cavity bleeding ,口腔出血,Recurrent or excessive bleeding from the mouth. ,校对中... +HP:0030142,Abnormal bowel sounds ,肠鸣音异常,An anomaly of the amount or nature of abdominal sounds. Abdominal sounds (bowel sounds) are made by the movement of the intestines as they promote passage of abdominal contents by peristalsis. ,校对中... +HP:0030143,Hyperactive bowel sounds ,肠鸣音亢进,Abnormally increased gurgling/rumbling sounds made by the movement of fluid and gas in the intestines. ,校对中... +HP:0030145,Lack of bowel sounds ,肠鸣音消失,Complete lack of abdominal sounds as assayed by examination of the abdomen with a stethoscope. ,校对中... +HP:0030146,Abnormal liver parenchyma morphology ,肝实质形态异常,A structural anomaly of the liver located predominantly in the hepatocytes as opposed to stromal cells. ,校对中... +HP:0030147,Truncal titubation ,躯干摇晃/躯干蹒跚,Tremor of the trunk in an anterior-posterior plane at 3-4 Hz. ,校对中... +HP:0030148,Heart murmur ,心脏杂音,An extra or unusual sound heard during a heartbeat caused vibrations resulting from the flow of blood through the heart. ,校对中... +HP:0030149,Cardiogenic shock ,心源性休克,"Severely decreased cardiac output with evidence of inadequate end-organ perfusion (i.e., tissue hypoxia) in the presence of adequate intravascular volume. ",校对中... +HP:0030151,Cholangitis ,胆管炎,"Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both. ",校对中... +HP:0030153,Cholangiocarcinoma ,胆管癌,"Cholangiocarcinoma is a primary cancer originating in the biliary epithelium i.e., the cholangiocytes, of the extrahepatic and intrahepatic biliary ducts. It is extremely invasive, develops rapidly, often metastasizes, and has a very poor prognosis. They are slow growing tumors which spread longitudinally along the bile ducts with neural, perineural and subepithelial extension. ",校对中... +HP:0030157,Flank pain ,侧腹疼痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the flank. ",校对中... +HP:0030160,Cervicitis ,宫颈炎,Inflammation of the uterine cervix. ,校对中... +HP:0030166,Night sweats ,盗汗,Occurrence of excessive sweating during sleep. ,校对中... +HP:0030167,Antimitochondrial antibody positivity ,线粒体抗体阳性,The presence of autoantibodies (immunoglobulins) in the serum that react against mitochondria. ,校对中... +HP:0030168,Dilated superficial abdominal veins ,腹壁浅静脉扩张,Increase in diameter of the veins located underneath the skin of the abdomen. ,校对中... +HP:0030169,Gastric varix ,胃静脉曲张,Extreme dilation of the submucusoal veins in the stomach. ,校对中... +HP:0030179,Abnormal peripheral action potential amplitude ,周围神经动作电位波幅异常,"An anomaly in the magnitude of the action potential along a peripheral nerve, that is, of the rapid rise and fall of the electrical membrane potential of the nerve. ",校对中... +HP:0030182,Tetraplegia/tetraparesis ,四肢瘫痪/四肢轻瘫,"Loss of strength in all four limbs. Tetraplegia refers to a complete loss of strength, whereas Tetraparesis refers to an incomplete loss of strength. ",校对中... +HP:0030183,Impaired visually enhanced vestibulo-ocular reflex ,受损的视觉增强的前庭眼反射,"The vestibulo-ocular reflex is responsible for the stabilization of the retinal image during movement. The visual vestibular ocular reflex (VVOR) or visual enhanced VOR, maintains ocular stability during head motion by generating compensatory eye movement opposite to head movement, and is a major component of visual vestibular interaction. This feature is an impairment of this reflex, manifested as the combined impairment of the three compensatory eye movement reflexes, namely the vestibulo-ocular reflex (VOR), smooth pursuit (SP) and optokinetic reflex (OKR). ",校对中... +HP:0030185,Isometric tremor ,等轴性震颤,"An isometric tremor occurs with muscle contraction against a rigid stationary object (e.g., when making a fist). ",校对中... +HP:0030186,Kinetic tremor ,动作性震颤,Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor. ,校对中... +HP:0030187,Titubation ,蹒跚,Nodding movement of the head or body. ,校对中... +HP:0030188,Tremor by anatomical site ,按解剖部位分类的震颤,Tremor classified by the affected body part. ,校对中... +HP:0030190,Oral motor hypotonia ,口腔运动肌张力减退,"Reduced muscle tone of oral musculature. In infants, this feature may be associated with difficulties in breast feeding, and may affect the latch, jaw motions, tongue placement, lip seal, suck/swallow/breathe pattern and overall feeding behavior. ",校对中... +HP:0030192,Fatigable weakness of bulbar muscles ,口咽部肌肉疲劳性无力,"A type of weakness of the bulbar muscles (muscles of the mouth and throat responsible for speech and swallowing) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. ",校对中... +HP:0030194,Fatigable weakness of speech muscles ,发音肌肉疲劳性无力,"A type of weakness of the muscles involved in speech that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. ",校对中... +HP:0030195,Fatigable weakness of swallowing muscles ,吞咽肌肉疲劳性无力,"A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. ",校对中... +HP:0030196,Fatigable weakness of respiratory muscles ,呼吸肌疲劳性无力,"A type of weakness of the muscles involved in breathing (respiration) that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. ",校对中... +HP:0030197,Fatigable weakness of skeletal muscles ,骨骼肌疲劳性无力,"A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. ",校对中... +HP:0030198,Fatigable weakness of distal limb muscles ,远端肢体肌肉疲劳性无力,"A type of weakness of a skeletal muscle of distal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. ",校对中... +HP:0030199,Fatigable weakness of neck muscles ,颈部肌肉疲劳性无力,"A type of weakness of a skeletal muscle in the neck that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. ",校对中... +HP:0030200,Fatiguable weakness of proximal limb muscles ,近端肢体肌肉疲劳性无力,"A type of weakness of a skeletal muscle of proximal part of a limb that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. ",校对中... +HP:0030202,Favorable response of weakness to acetylcholine esterase inhibitors ,肌无力对乙酰胆碱酯酶抑制剂的反应好,Improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. ,校对中... +HP:0030203,Unfavorable response of muscle weakness to acetylcholine esterase inhibitors ,肌无力对乙酰胆碱酯酶抑制剂的反应不佳,Lack of improvement of muscle strength in response to administration of an acetylcholine esterase inhibitor. ,校对中... +HP:0030205,Increased jitter at single fiber EMG ,单纤维肌电图时抖动增加,"The variation in the time interval between the two action potentials of the same motor unit is called jitter. This term therefore applies to increased variability in the interval between successive action potentials of the same motor unit, which is measured by electromyography (EMG). ",校对中... +HP:0030211,Slow pupillary light response ,瞳孔对光反应缓慢,Reduced velocity and acceleration in the pupillary light response. ,校对中... +HP:0030212,Collectionism ,收藏癖,Excessive or pathological tendency to save and collect possessions. ,校对中... +HP:0030213,Emotional blunting ,情感迟钝,"Lack of emotional reactivity and empathy for situations or persons, sometime also for family members. ",校对中... +HP:0030214,Hypersexuality ,性欲亢进,"Pathological persistent sexual disinhibiting behavior, directed at oneself or to others. ",校对中... +HP:0030215,Inappropriate crying ,不合时宜的哭泣,"Uncontrolled episodes of crying, without apparent motivating stimuli. ",校对中... +HP:0030216,Inertia ,惰性,Reduction of goal-directed behaviors linked to the impairment in frontal executive functions (planning of an action for example). ,校对中... +HP:0030217,Limb apraxia ,肢体失用症,Difficulty in performing the correct execution of limbs movements in absence of motor impairment. ,校对中... +HP:0030218,Punding ,刻板运动,"Punding is a stereotypical motor behavior characterized by an intense fascination with repetitive, excessive and non-goal oriented handling, and examining of objects. ",校对中... +HP:0030219,Semantic dementia ,语义性痴呆,"A progressive loss of the ability to remember the meaning of words, faces and objects. ",校对中... +HP:0030220,Socially inappropriate behavior ,社交不当行为,Behavior that is not in line with social norms. ,校对中... +HP:0030222,Visual agnosia ,视觉失认症,Difficulty in recognizing objects by visual input in absence of sensorial visual impairment. ,校对中... +HP:0030223,Perseveration ,持续症现象,"Perseveration can be defined as the contextually inappropriate and unintentional repetition of a response or behavioral unit. In other words, the observed repetitiveness does not meet the demands of the situation, is not the product of deliberation, and may even unfold despite counterintention. Perseveration can therefore be differentiated from goal-directed and intentional forms of repetition, such as linguistic redundancies designed to enhance communicative or poetic impact. ",校对中... +HP:0030225,Accumulation of muscle fiber desmin ,肌肉纤维结蛋白蓄积,Immunohistochemistry shows accumulation of desmin protein in the muscle biopsy. ,校对中... +HP:0030226,Abnormal muscle fiber myotilin ,肌纤维肌动蛋白异常,A deviation from normal in the expression of myotilin in muscle tissue. Myotilin is a 57kD cytoskeletal protein. ,校对中... +HP:0030230,Central core regions in muscle fibers ,肌肉纤维的中央核区域,"The presence of disorganized areas called cores in the center of muscle fibers. There is a typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes. Cores are typically well demarcated and centrally located, but may occasionally be multiple and of eccentric. ",校对中... +HP:0030231,Glycogen accumulation in muscle fiber lysosomes ,肌肉纤维溶酶体糖原蓄积,An increased amount of glycogen in muscle tissue found specifically in lysosomes. ,校对中... +HP:0030232,Increased sarcoplasmic glycogen ,肌浆糖原增加,Elevated glycogen content in the sarcoplasm (cytoplasm) of muscle fibers. ,校对中... +HP:0030234,Highly elevated creatine kinase ,肌酸磷酸激酶明显上升,An increased CPK level between 4X and 50X above the upper normal level. ,校对中... +HP:0030235,Extremely elevated creatine kinase ,肌酸磷酸激酶极度上升,An increased creatine kinase level more than 50X above the upper normal level. ,校对中... +HP:0030236,Abnormality of muscle size ,肌肉大小异常,Abnormalities of the overall muscle bulk based on clinical observation. ,校对中... +HP:0030237,Hand muscle weakness ,手肌无力,Reduced strength of the musculature of the hand. ,校对中... +HP:0030241,Hypoplasia of deltoid muscle ,三角肌发育不全,Underdevelopment of the deltoid muscle. ,校对中... +HP:0030242,Portal vein thrombosis ,门静脉血栓形成,"Thrombosis of the portal vein and/or its tributaries, which include the splenic vein and the superior and inferior mesenteric veins. ",校对中... +HP:0030243,Hepatic vein thrombosis ,肝静脉血栓形成,An obstruction in the veins of the liver caused by a blood clot (thrombosis). ,校对中... +HP:0030244,Maternal fever in pregnancy ,妊娠期间孕妇发热,The occurence of an elevated body temperature of the mother during pregnancy. ,校对中... +HP:0030247,Splanchnic vein thrombosis ,内脏静脉血栓形成,"The term splanchnic vein thrombosis encompasses Budd-Chiari syndrome (hepatic vein thrombosis), extrahepatic portal vein obstruction (EHPVO), and mesenteric vein thrombosis; the word splanchnic is used to refer to the visceral organs (of the abdominal cavity). ",校对中... +HP:0030248,Mesenteric venous thrombosis ,肠系膜静脉血栓形成,A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). ,校对中... +HP:0030252,Absent circulating B cells ,血液B 细胞缺失,"Complete lack of mature B cells, that is, of B cells that have left the bone marrow. ",校对中... +HP:0030253,Defective T cell proliferation ,T 细胞增殖缺陷,A reduced ability of a T cell population to expand by cell division following T cell activation. ,校对中... +HP:0030254,Nail bed hemorrhage ,甲床出血,Small areas of bleeding (hemorrhage) under the fingernail or toenail. ,校对中... +HP:0030255,Large intestinal polyposis ,大肠息肉病,The presence of multiple polyps in the large intestine. ,校对中... +HP:0030257,Freckled genitalia ,生殖器雀斑,One or more brown punctate macules on the skin of the genitalia. ,校对中... +HP:0030260,Microphallus ,阴茎过小,Length of penis more than 2 SD below the mean for age accompanied by hypospadias. ,校对中... +HP:0030261,Absent penis ,阴茎缺如,Lack of recognizable penile structures. ,校对中... +HP:0030264,Webbed penis ,蹼状阴茎,Ventral skinfold extending from penis to scrotum. ,校对中... +HP:0030265,Wide penis ,阴茎扁宽,Distance between left and right side of the flaccid penis at the attachment to the skin above the pubic symphysis more than 2 standard deviations above the mean for age. ,校对中... +HP:0030268,Hyperplastic callus formation ,增生性愈伤组织形成,"Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing. ",校对中... +HP:0030269,Increased serum insulin-like growth factor 1 ,血清胰岛素样生长因子 1(IGF1) 增加,An elevated level of insulin-like growth factor 1 (IGF1) in the blood circulation. ,校对中... +HP:0030270,Elevated red cell adenosine deaminase level ,红细胞腺苷脱氨酶活性增高,"Increase in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. ",校对中... +HP:0030271,"Reduced erythrocyte 2,3-diphosphoglycerate concentration ",红细胞 2，3-二磷酸甘油酸浓度减低,"This term refers to an inappropriate low 2,3-DPG concentration in erythrocytes. 2,3-diphosphoglycerate (2,3-DPG) controls the movement of oxygen from red blood cells to tissues. Anemia is usually accompanied by an increased level of 2,3-DPG in order to promote tissue oxygenation. ",校对中... +HP:0030272,Abnormal erythrocyte enzyme level ,红细胞酶水平异常,An altered level of any enzyme to act as catalysts within erythrocytes. This term includes changes due to altered activity of an enzyme. ,校对中... +HP:0030273,Reduced red cell adenosine deaminase level ,红细胞腺苷脱氨酶活性降低,"Decrease in the level of adenosine deaminase (ADA), an enzyme involved in purine metabolism, within erythrocytes. ADA is involved in the catabolism of adenosine. ",校对中... +HP:0030280,Rib gap ,肋骨间隙,Radiolucent focal defect of a rib shaft. ,校对中... +HP:0030281,Cervical C3/C4 vertebral fusion ,颈椎 (C3/C4)融合,"Fusion of cervical vertebrae at C3 and C4, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. ",校对中... +HP:0030282,Posterior rib gap ,肋骨后部间隙,Radiolucent focal defect of the posterior portion of a rib shaft. The 'gaps' may lead to flail chest. ,校对中... +HP:0030284,Triangular tongue ,三角形舌,"A form of macrogloassia (increased size of the tongue) characterized by a broad based root of the tongue but a small tongue tip, giving the appearance of a triangle. ",校对中... +HP:0030289,Flattened femoral epiphysis ,扁平股骨骨骺,An abnormal flattening of an epiphysis of femur. ,校对中... +HP:0030290,Unossified sacrum ,骶骨未骨化,Lack of ossification of the sacrum. ,校对中... +HP:0030291,Lower-limb metaphyseal irregularity ,下肢干骺端不规则,Irregularity of the normally smooth surface of one or more metaphyses of a bone of the leg. ,校对中... +HP:0030292,Tibial metaphyseal irregularity ,胫骨干骺端不规则,Irregularity of the normally smooth surface of a metaphysis of a tibia. ,校对中... +HP:0030293,Fibular metaphyseal irregularity ,腓骨干骺端不规则,Irregularity of the normally smooth surface of a metaphysis of a fibula. ,校对中... +HP:0030294,Metaphyseal chondromatosis of tibia ,胫骨干骺端软骨瘤病, , +HP:0030295,Metaphyseal chondromatosis of femur ,股骨干骺端软骨瘤病, , +HP:0030296,Metaphyseal chondromatosis of radius ,桡骨干骺端软骨瘤病, , +HP:0030297,Metaphyseal chondromatosis of ulna ,尺骨干骺端软骨瘤病, , +HP:0030299,Distal femoral metaphyseal abnormality ,股骨远侧干骺端异常,An anomaly of the metaphysis of the distal femur (close to the knee). ,校对中... +HP:0030301,Abnormality of the anterior commissure ,前连合异常,"An anomaly of the anterior commissure, a bundle of nerve fibers that connect the two cerebral hemispheres across the midline. The anterior commissure plays a role in pain sensation and contains decussating fibers from the olfactory tracts. ",校对中... +HP:0030302,Agenesis of the anterior commissure ,前连合缺如,Absence of the anterior commissure. ,校对中... +HP:0030303,Hypoplastic anterior commissure ,前连合发育不全,Underdevelopment of the anterior commissure. ,校对中... +HP:0030311,Lower extremity joint dislocation ,下肢关节脱位,Displacement or malalignment of one or more joints in the lower extremity (leg). ,校对中... +HP:0030312,Obliteration of the calvarial diploe ,颅骨板障闭合,"Absence of the spongy bone structure (or tissue) of the internal part of the skull cap (i.e., of the calvarial diploe). ",校对中... +HP:0030314,Periostosis ,骨膜骨赘形成,Abnormal deposition of periosteal bone. ,校对中... +HP:0030318,Angular cheilitis ,口角炎,A type of inflammation of the lips involving one or both of the corners of the mouth. ,校对中... +HP:0030319,Weakness of facial musculature ,面部肌肉无力,Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve). ,校对中... +HP:0030320,Increased intervertebral space ,椎间隙增宽,"An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space. ",校对中... +HP:0030323,Unilateral vertebral artery hypoplasia ,单侧椎动脉发育不全,Underdevelopment of the vertebral artery on one side. ,校对中... +HP:0030325,Cervicomedullary schisis ,颈髓劈裂,Fissure within the spinal cord of the neck. ,校对中... +HP:0030328,Decreased osteoclast count ,破骨细胞计数减少,Decreased number of osteoclasts. ,校对中... +HP:0030329,Retinal thinning ,视网膜变薄,Reduced anteroposterior thickness of the retina. This phenotype can be appreciated by retinal optical coherence tomography (OCT). ,校对中... +HP:0030330,Multinucleated giant chondrocytes in epiphyseal cartilage ,骺软骨中存在多核巨软骨细胞,The presence of cartilage cells (chondrocytes) that are substantially increased in size and contain more than one nucleus and are located within the resting zone of the epiphyseal cartilage. ,校对中... +HP:0030339,Decreased circulating gonadotropin concentration ,循环系统促性腺激素浓度降低,"A reduction of the circulating level of a gonadotropin, that is, of a protein hormone secreted by gonadotrope cells of the anterior pituitary of vertebrates. The primary gonadotropins are luteinizing hormone (LH) and follicle-stimulating hormone (FSH). ",校对中... +HP:0030341,Decreased circulating follicle stimulating hormone concentration ,循环卵泡刺激素浓度降低,A reduction of the circulating level of follicle-stimulating hormone (FSH). ,校对中... +HP:0030344,Decreased circulating luteinizing hormone level ,循环黄体生成素水平降低,A reduction in the circulating level of luteinizing hormone (LH). ,校对中... +HP:0030346,Abnormal circulating follicle-stimulating hormone concentration ,循环促卵泡激素浓度异常,An anomaly of the circulating level of follicle-stimulating hormone (FSH). ,校对中... +HP:0030348,Increased circulating androgen concentration ,循环雄激素浓度增加,"An elevation of the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. ",校对中... +HP:0030349,Decreased circulating androgen concentration ,循环雄激素浓度降低,"A reduction in the blood concentration of an androgen, that is, of a steroid hormone that controls development and maintenance of masculine characteristics. The androgens include testosterone and Dehydroepiandrosterone. ",校对中... +HP:0030350,Erythematous papule ,红色丘疹,"A circumscribed, solid elevation of skin with no visible fluid that is reddish (erythematous) in color. ",校对中... +HP:0030351,Urticarial plaque ,荨麻疹性斑块,"A well-circumscribed, intensely pruritic, raised wheal (edema of the superficial skin) typically 1 to 2 cm in diameter. ",校对中... +HP:0030353,Decreased serum insulin-like growth factor 1 ,血清胰岛素样生长因子-1（IGF1）水平降低,A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation. ,校对中... +HP:0030355,Abnormal serum interferon-gamma level ,血清干扰素-γ水平异常,Abnormal levels of interferon gamma measured in the blood circulation. ,校对中... +HP:0030356,Increased serum interferon-gamma level ,血清干扰素-γ水平增加,An elevation in the concentration of interferon gamma measured in the blood circulation. ,校对中... +HP:0030357,Small cell lung carcinoma ,小细胞肺癌,"Small cell lung cancer (SCLC) is a type of highly malignant lung cancer that is composed of small ovoid cells. In the past, SCLC was called oat cell carcinoma because the microscopic appearance of the cells was felt to resemble oats. SLCLC usually originates near the bronchi and in many cases may grow and metastasize quickly. ",校对中... +HP:0030358,Non-small cell lung carcinoma ,非小细胞肺癌, , +HP:0030362,Reduced muscle carnitine level ,肌肉肉碱水平降低,A reduction in the level of carnitine in muscle tissue. ,校对中... +HP:0030368,Hyperphalangy of the 2nd finger ,第二指多指节,"An accessory phalanx of the index (second) finger that is arranged linearly with the other phalanges. Hyperphalangy of the index finger results from an accessory ossification center at the metacarpophalangeal joint, resulting in radial deviation of the index finger. Note that this term refers only to this type of hyperphalangy. ",校对中... +HP:0030369,Induced vaginal delivery ,催产阴道分娩,"Vaginal delivery following induction of labor, a procedure used to stimulate uterine contractions during pregnancy before labor begins on its own. ",校对中... +HP:0030374,Decreased proportion of memory B cells ,记忆性B细胞比例减低,"A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV). ",校对中... +HP:0030381,Increased proportion of transitional B cells ,过渡性 B 细胞比例增高,"An elevation in the normal proportion of transitional B cells (CD19+/CD38high/IgMhigh) in circulation relative to the total number of B cells. B cells originate from precursors in the bone marrow, and the first cells which migrate to the peripheral blood have been classified as transitional B cells. ",校对中... +HP:0030384,Decreased proportion of marginal zone B cells ,边缘区 B 细胞比例减低,A reduction in the normal proportion of marginal zone B cells (CD19+/CD27+/IgM+/IgD+) in circulation relative to the total number of B cells. ,校对中... +HP:0030388,Decreased proportion of class-switched memory B cells ,类别转换型记忆性 B 细胞比例减低,"A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. ",校对中... +HP:0030390,Reduced circulating leukotriene C4 concentration ,白三烯代谢异常,An abnormally decreased concentration of leukotriene C4 in the blood circulation. ,校对中... +HP:0030391,Spoken word recognition deficit ,口语词汇识别能力降低,"Reduced ability of lexical discrimination, which refers to the process of distinguishing a stimulus word from other phonologically similar words. Lexical discrimination can be defined as the process of correctly identifying words in the mental lexicon to match the phonological input of a stimulus. ",校对中... +HP:0030392,Choroid plexus carcinoma ,脉络丛癌,"Intraventricular papillary neoplasm derived from choroid plexus epithelium. Plexus tumors are most common in the lateral and fourth ventricles; while 80% of lateral ventricle tumors present in children, fourth ventricle tumors are evenly distributed in all age groups. Clinically, choroid plexus tumors tend to cause hydrocephalus and increased intracranial pressure. Histologically, choroid plexus papillomas correspond to WHO grade I, choroid plexus carcinomas to WHO grade III. ",校对中... +HP:0030393,Endolymphatic sac tumor ,内淋巴囊肿瘤,"A low-grade papillary epithelial neoplasm (adenocarcinoma) with a slow growth pattern. The endolymphatic duct emerges from the posterior wall of the saccule (of the inner ear) and ends in a blind pouch, the endolymphatic sac. Endolymphatic sac tumors (ELSTs) are known under different names in the literature (Heffner tumor, aggressive papillary middle ear tumor, and low-grade adenocarcinoma of endolymphatic sac origin). ",校对中... +HP:0030402,Abnormal platelet aggregation ,血小板聚集异常,"An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent. ",校对中... +HP:0030404,Glucagonoma ,胰高血糖素瘤,An endocrine tumor of the pancreas that secretes excessive amounts of glucagon. ,校对中... +HP:0030405,Pancreatic endocrine tumor ,胰腺内分泌肿瘤,A neuroendocrine tumor originating in a hormone-producing cell (islet cell) of the pancreas. ,校对中... +HP:0030406,Primary peritoneal carcinoma ,原发性腹膜癌,"A type of cancer that originates in the peritoneum. It is to be distinguished from metastatic cancer of the peritoneum. Peritoneal cancer can occur anywhere in the abdominal space, and affects the surface of organs contained inside the peritoneum. ",校对中... +HP:0030410,Sebaceous gland carcinoma ,皮脂腺癌,"A carcinoma that arises in a sebaseous gland (an exocrine gland of the skin that secretes sebum, a waxy substance) ",校对中... +HP:0030413,Squamous cell carcinoma of the tongue ,舌鳞状细胞癌,A carcinoma derived from a squamous epithelial cell of the tongue. ,校对中... +HP:0030416,Vulvar neoplasm ,外阴肿瘤,A tumor (abnormal growth of tissue) of the female external genital tract (vulva). ,校对中... +HP:0030417,Squamous cell carcinoma of the vulva ,外阴鳞状细胞癌,A cancer that originates in the squamous cells that line the surface of the vulva. ,校对中... +HP:0030423,Splenic cyst ,脾囊肿,A closed sac located in the spleen. ,校对中... +HP:0030424,Epididymal cyst ,附睾囊肿,"A smooth, extratesticular, spherical cyst in the head of the epididymis. ",校对中... +HP:0030426,Ossifying fibroma ,骨化性纤维瘤,A benign central bone tumor composed of fibrous connective tissue within which bone is formed. ,校对中... +HP:0030427,Ossifying fibroma of the jaw ,颌部骨化性纤维瘤,A benign central bone tumor of the jaw composed of fibrous connective tissue within which bone is formed. ,校对中... +HP:0030428,Cutaneous myxoma ,皮肤粘液瘤,A myxoma originating in the skin. ,校对中... +HP:0030430,Neuroma ,神经瘤,A tumor made up of nerve cells and nerve fibers. ,校对中... +HP:0030431,Osteochondroma ,骨软骨瘤,A cartilage capped bony outgrowth of a long bone. Osteochondroma arises on the external surface of bone containing a marrow cavity that is continuous with that of the underlying bone. ,校对中... +HP:0030434,Pilomatrixoma ,毛母质瘤,"Pilomatricoma is an asymptomatic slowly growing benign cutaneous tumor, differentiating towards the hair matrix of the hair follicle. It is covered by normal or hyperemic skin, and usually varies in size from 0.5 to 3 cm. ",校对中... +HP:0030436,Fibrofolliculoma ,纤维毛囊瘤,"Fibrofolliculoma is a clinically asymptomatic, 2-4 mm, skin-colored, dome-shaped smooth papule. It usually arises in the form of multiple lesions in adults in different areas such as the scalp, forehead, face, and neck. According to histology, the lesion is a fibrotic hamartoma characterized by infundibular epithelial proliferation and perifollicular fibrous proliferation. ",校对中... +HP:0030442,Anal margin squamous cell carcinoma ,肛缘鳞状细胞癌,A squamous cell carcinoma that originates in the skin of the anal margin. ,校对中... +HP:0030445,Pulmonary carcinoid tumor ,肺类癌,"A malignant neuroendocrine tumor of the lung. According to histopathologic criteria (WHO 2004), carcinoids are divided into four groups i.e. typical and atypical carcinoids, large cell neuroendocrine carcinoma and small cell lung carcinoma. ",校对中... +HP:0030446,Atypical pulmonary carcinoid tumor ,非典型肺类癌, , +HP:0030448,Soft tissue sarcoma ,软组织肉瘤,"A type of sarcoma (A connective tissue neoplasm formed by proliferation of mesodermal cells) that develops from soft tissues like fat, muscle, nerves, fibrous tissues, blood vessels, or deep skin tissues. ",校对中... +HP:0030454,Abnormal electrooculogram ,眼电图异常,The clinical electro-oculogram (EOG) is an electrophysiological test of function of the outer retina and retinal pigment epithelium (RPE) in which changes in electrical potential across the RPE are recorded during successive periods of dark and light adaptation. ,校对中... +HP:0030455,Abnormality of pattern visual evoked potentials ,图形视觉诱发电位异常, , +HP:0030465,Undetectable light-adapted electroretinogram ,无法检出明适应视网膜电图,No detectable response to the light-adapted 3.0 ERG (single-flash cone response). This type of ERG measures responses of the cone system; a-waves arise from cone photoreceptors and cone off-bipolar cells; the b-wave comes from On- and Off-cone bipolar cells. ,校对中... +HP:0030468,Abnormal multifocal electroretinogram ,多焦视网膜电图异常, , +HP:0030473,Abnormal light-adapted flicker electroretinogram ,明适应闪光视网膜电图异常, , +HP:0030474,Undetectable dark-adapted electroretinogram ,无法检出暗适应视网膜电图, , +HP:0030483,Reduced amplitude of dark-adapted bright flash electroretinogram a-wave ,暗适应暗淡闪光视网膜电图振幅降低,An abnormal reduction in the amplitude of the a-wave. ,校对中... +HP:0030490,Exudative vitreoretinopathy ,渗出性玻璃体视网膜病变, , +HP:0030491,Choriocapillaris atrophy ,脉络膜毛细血管层萎缩,Atrophy of the capillary lamina of choroid. ,校对中... +HP:0030496,Macular exudate ,黄斑渗出,Yellow-white intraretinal deposits in the macula typically associated with damaged outer blood-retina barrier and exudation of serous fluid and lipids from the retinal microvasculature. ,校对中... +HP:0030499,Macular drusen ,黄斑玻璃疣,"Drusen (singular, 'druse') are tiny yellow or white accumulations of extracellular material (lipofuscin) that build up in Bruch's membrane of the eye. This class refers to the presence of Drusen in the macula. ",校对中... +HP:0030500,Yellow/white lesions of the macula ,黄斑黄/白病变, , +HP:0030502,Retinoschisis ,视网膜劈裂症,Splitting of the neuroretinal layers of the retina. ,校对中... +HP:0030503,Macular telangiectasia ,黄斑毛细血管扩张, , +HP:0030505,Nummular pigmentation of the fundus ,眼底硬币样色素沉着,"Clumped pigmentary changes of nummular appearance (i.e., thought to resemble the shape of a coin or multiple coins stuck together) at the level of the retinal pigment epithelium. ",校对中... +HP:0030506,Yellow/white lesions of the retina ,视网膜黄/白病变, , +HP:0030507,Retinal crystals ,视网膜结晶,Crystalline deposits in the retina. ,校对中... +HP:0030511,Bradyopsia ,运动视觉障碍,Difficulty in seeing moving objects. ,校对中... +HP:0030513,Difficulty adjusting from light to dark ,从明亮到黑暗适应困难, , +HP:0030515,Moderately reduced visual acuity ,中度视力降低,Moderate reduction of the ability to see defined as visual acuity less than 6/18 (20/60 in US notation; 0.5 in decimal notation) but at least 6/60 (20/200 in US notation; 0.1 in decimal notation). ,校对中... +HP:0030516,Homonymous hemianopia ,同侧偏盲, , +HP:0030521,Bitemporal hemianopia ,双颞侧偏盲, , +HP:0030528,Paracentral scotoma ,旁中央暗点, , +HP:0030529,Ring scotoma ,环形暗点, , +HP:0030530,Arcuate scotoma ,弧形暗点, , +HP:0030532,Visual acuity test abnormality ,视力测试异常, , +HP:0030534,Abnormal best corrected visual acuity test ,最佳矫正视力测试异常, , +HP:0030551,Visual acuity light perception with projection ,在投射光的情况下视力具有光感, , +HP:0030553,Visual acuity no light perception ,视力无光感, , +HP:0030584,Color vision test abnormality ,色觉测试异常, , +HP:0030586,Abnormal Ishihara plate test ,石原氏色盲检查异常, , +HP:0030588,Abnormal visual field test ,视野检查异常,Abnormal result of a test designed to test an individual's central and peripheral vision by determining the ability of the individual to perceive objects at differing locations of the visual field. ,校对中... +HP:0030591,Abnormal kinetic perimetry test ,动态视野检查异常, , +HP:0030602,Abnormal fundus autofluorescence imaging ,眼底自发荧光成像异常,"Fundus autofluorescence (FAF) is a non-invasive retinal imaging modality used in clinical practice to provide a density map of lipofuscin, the predominant ocular fluorophore, in the retinal pigment epithelium. Autofluorescent patterns result from the complex interaction of fluorophores such a lipofuscin, which release an autofluorescent signal, and elements such as melanin and rhodopsin, which absorb the excitation beam and attenuate autofluorescence. Other structures such as retinal vessels and the crystalline lens may also influence autofluorescence through blocking and interference. ",校对中... +HP:0030609,Photoreceptor layer loss on macular OCT ,OCT 测量法黄斑区光感受器细胞层损失,Loss of the outer nuclear layer (photoreceptor layer) as assessed by ocular coherence tomography. ,校对中... +HP:0030613,Abnormal foveal morphology on macular OCT ,OCT 测量法黄斑区中心凹形态异常, , +HP:0030615,Foveal photoreceptor outer segment loss on macular OCT ,OCT 测量法黄斑区中心凹光感受器外段损失, , +HP:0030618,Increased OCT-measured foveal thickness ,OCT 测量法中心凹厚度增加, , +HP:0030620,Inner retinal layer loss on macular OCT ,OCT 测量法黄斑区内层视网膜损失, , +HP:0030625,Hyporeflective spaces on macular OCT ,OCT 测量法黄斑区低反射性间隙, , +HP:0030629,Perifoveal ring of hyperautofluorescence ,中央凹周边强自动荧光环, , +HP:0030631,Hyperautofluorescent macular lesion ,强自发荧光型黄斑病变,Increased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. ,校对中... +HP:0030632,Hypoautofluorescent macular lesion ,弱自发荧光型黄斑病变,Decreased amount of autofluorescence in the macula as ascertained by fundus autofluorescence imaging. ,校对中... +HP:0030638,Congenital stationary night blindness with normal fundus ,先天性静止性夜盲伴眼底正常, , +HP:0030639,Congenital stationary night blindness with abnormal fundus ,先天性静止性夜盲伴眼底异常, , +HP:0030642,Fundus albipunctatus ,眼底白点症, , +HP:0030644,Blind-spot enlargment ,盲点扩大, , +HP:0030657,Umbilical cord hematoma ,脐带血肿,Bleeding from the vessels of the cord with extravasation of blood into the Wharton jelly surrounding the umbilical cord vessels. ,校对中... +HP:0030663,Optically empty vitreous ,光空型玻璃体,"Vestigial vitreous gel occupying the immediate retrolental space and minimal to no discernable gel in the central vitreous cavity, giving the appearance of an empty vitreous cavity. ",校对中... +HP:0030664,Beevor's sign ,Beevor's征,"Weakness of the inferior portion of the rectus abdominal muscle, which is ascertained clinically as follows. When a patient sits up or raises the head from a recumbent position, the umbilicus is displaced toward the head. This is the result of paralysis of the inferior portion of the rectus abdominal muscle, so that the upper fibres predominate pulling upwards the umbilicus. ",校对中... +HP:0030666,Retinal neovascularization ,视网膜新生血管形成,"In wound repair, neovascularization (NV) involves the sprouting of new vessels from pre-existent vessels to repair or replace damaged vessels. In the retina, NV is a response to ischemia. The NV adheres to the inner surface of the retina and outer surface of the vitreous. NV are deficient in tight junctions and hence leak plasma into surrounding tissue including the vitreous. Plasma causes the vitreous gel to degenerate, contract, and eventually collapse which pulls on the retina. Since retinal NV is adherent to both retina and vitreous, as the vitreous contracts the NV may be sheared resulting in vitreous hemorrhage or the NV may remain intact and pull the retina with the vitreous resulting in retinal elevation referred to as traction retinal detachment. ",校对中... +HP:0030667,Peripheral retinal neovascularization ,周边视网膜新生血管形成,A type of retinal neovascularization that affects the periphery of the retina. ,校对中... +HP:0030668,Periorbital dermoid cyst ,眶周皮样囊肿,A cyst that is localized in the region of the orbit and exhibits an epithelial lining with a keratin-filled lumen. Hair follicles are one of the adnexal structures that are commonly found in walls of dermoid cysts. ,校对中... +HP:0030672,Asteroid hyalosis ,星状玻璃体变性,"The presence of small, white vitreous opacities consisting of calcium phosphate and complex, layered lipid deposits. ",校对中... +HP:0030674,Antenatal onset ,出生前发病,Onset prior to birth. ,校对中... +HP:0030676,Satyr ear ,尖耳轮耳,"Sharp pointed superior portion of the ear, with variable overfolding of the helix. ",校对中... +HP:0030680,Abnormality of cardiovascular system morphology ,心血管系统形态异常,Any structural anomaly of the heart and great vessels. ,校对中... +HP:0030682,Left ventricular noncompaction ,左心室心肌致密化不全,"Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer. ",校对中... +HP:0030685,Decreased adiponectin level ,脂联素水平降低,"A reduced circulating concentration of adiponectin, a 30-kDa complement C1-related protein that is the most abundant secreted protein expressed in adipose tissue. ",校对中... +HP:0030688,Increased glucagon level ,胰高血糖素水平增加,An elevated concentration of glucagon in the blood circulation. ,校对中... +HP:0030690,Gingival cleft ,牙龈裂,"A fissure in the gingiva (gums), i.e., the mucosal tissue that lies over the mandible and maxilla. ",校对中... +HP:0030691,Divergence nystagmus ,散开性眼震,A condition in which both eyes beat outward simultaneously. ,校对中... +HP:0030692,Brain neoplasm ,脑肿瘤,A benign or malignant neoplasm that arises from or metastasizes to the brain. ,校对中... +HP:0030693,Supratentorial neoplasm ,幕上肿瘤,A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli. ,校对中... +HP:0030707,Unilateral lung agenesis ,单侧肺缺如,Lack of development of one lung. ,校对中... +HP:0030713,Vein of Galen aneurysmal malformation ,Galen静脉动脉瘤畸形,"Gross dilatation of the vein of Galen, being fed by large anomalous vessel or vessels arising from the carotid or basilar circulation. ",校对中... +HP:0030716,Acrania ,无脑畸形,"Partial or complete absence of the flat bones of the cranial vault. The condition is frequently, though not always, associated with anencephaly. ",校对中... +HP:0030718,Right atrial enlargement ,右心房扩大,Increase in size of the right atrium. ,校对中... +HP:0030721,Tetraphocomelia ,四肢短肢畸形,Phocomelia involving all four extremities. ,校对中... +HP:0030724,Central nervous system cyst ,中枢神经系统囊肿,A fluid-filled sac (cyst) located within the central nervous system. ,校对中... +HP:0030731,Carcinoma ,癌,"A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus). ",校对中... +HP:0030732,Dysplastic tricuspid valve ,三尖瓣发育不良,A congenital malformation of the tricuspid valve characterized by leaflet deformation. ,校对中... +HP:0030736,Sacrococcygeal teratoma ,骶尾部畸胎瘤,A teratoma arising in the sacro-coccygeal region. ,校对中... +HP:0030743,Glial remnants anterior to the optic disc ,视盘前的胶质残留,Persistance of a posterior remnant of the hyaloid artery located at the optic disc. ,校对中... +HP:0030744,Hyaloid vascular remnant and retrolental mass ,玻璃体血管残余和晶体后团块,A type of persistance of the hyaloid vascular system associated with a retrolental mass that may lead to fetal cataract. ,校对中... +HP:0030745,Dilatation of the ductus arteriosus ,动脉导管扩张,A saccular or fusiform dilation and elongation of the ductus arteriosus. ,校对中... +HP:0030746,Intraventricular hemorrhage ,脑室内出血,Bleeding into the ventricles of the brain. ,校对中... +HP:0030752,Dacryocystocele ,泪囊突出,A nasolacrimal duct obstruction presenting as a grey-blue cystic swelling just below the medial canthus. Believed to be a result of concomitant upper obstruction of the Rosenmuller valve and lower obstruction of the Hasner valve. ,校对中... +HP:0030756,Erythrodontia ,红牙病,"Reddish, brown opalescent discoloration of teeth in normal light. ",校对中... +HP:0030757,Tooth abscess ,牙脓肿,A pocket of pus located within a region of a tooth. ,校对中... +HP:0030758,Periapical tooth abscess ,根尖周脓肿,A tooth abscess that occurs at the tip of the root (apex) of a tooth. ,校对中... +HP:0030760,Renal fibrosis ,肾纤维化,Renal fibrosis is the consequence of an excessive accumulation of extracellular matrix that occurs in virtually every type of chronic kidney disease. ,校对中... +HP:0030764,Ochronosis ,褐黄病,"Brown or blue-gray discoloration of the skin that can present on the axillary and inguinal areas, face, palms or soles. In addition, blue-black discoloration can be apparent on skin overlying cartilage in which the pigment is deposited, such as the ears. This is a characteristic manifestation of alkaptonuria, which is an autosomal recessively inherited deficiency of homogentisic acid oxidase that results in accumulation of homogentisic acid in collagenous structures. The sclerae are also typically involved. ",校对中... +HP:0030765,Sleep terror ,睡惊症,"Episodes of intense fear, screaming and flailing although affected individuals are still asleep. ",校对中... +HP:0030766,Ear pain ,耳痛,"Pain in the ear can be a consequence of otologic disease (primary or otogenic otalgia), or can arise from pathologic processes and structures other than the ear (secondary or referred otalgia). ",校对中... +HP:0030771,Mallet finger ,槌状指,"Mallet finger refers to a condition in which the end joint of a finger bends but will not straighten by itself. In this situation, the joint can be pushed straight but will not hold that position on its own. ",校对中... +HP:0030774,Mitochondrial swelling ,线粒体肿胀,"The mitochondrial matrix refers to the substance occupying the space enclosed by the inner membrane of a mitochondrion, which contains enzymes, DNA, granules, and inclusions of protein crystals, glycogen, and lipid. Mitochondrial swelling refers to an increase in size of the mitochondrial matrix. This phenomenon is thought to be related to a permeabilized inner membrane that originates a large swelling in the mitochondrial matrix. Mitochondrial swelling may distend the outer membrane until it ruptures. ",校对中... +HP:0030781,Increased circulating free fatty acid level ,循环系统内游离脂肪酸水平增高,A higher than normal levels of the fatty acids which can occur in plasma as a result of lipolysis in adipose tissue or when plasma triacyglycerols are taken into tissues. ,校对中... +HP:0030782,Abnormal serum interleukin level ,血清白介素水平异常,"An abnormal amount of any of the interleukins, a class of cytokines, in the circulation. ",校对中... +HP:0030783,Increased circulating interleukin 6 ,循环白介素 6 增加,An increased concentration of interleukin-6 in the circulation. ,校对中... +HP:0030784,Anomic aphasia ,命名性失语症,"An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name. ",校对中... +HP:0030786,Photopsia ,闪光感,Perceived flashes of light. ,校对中... +HP:0030793,Jaw swelling ,颌部肿胀,Abnormal enlargement in the upper jaw (maxilla) or in the lower jaw (mandible). ,校对中... +HP:0030794,Abnormal C-peptide level ,C-肽水平异常,"An anomolous circulating concentration of the connecting (C) peptide, which links the insulin A and B chains in proinsulin, providing thereby a means to promote their efficient folding and assembly in the endoplasmic reticulum during insulin biosynthesis. After cleavage of proinsulin, C-peptide is stored with insulin in the soluble phase of the secretory granules and is subsequently released in equimolar amounts with insulin, providing a useful independent indicator of insulin secretion. ",校对中... +HP:0030795,Reduced C-peptide level ,C-肽水平降低,"A decreased concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with reduced insulin secretion. ",校对中... +HP:0030796,Increased C-peptide level ,C-肽水平增高,"An elevated concentration of C-peptide in the circulation. Since C-peptide is secreted in equimolar amounts to insulin, this feature correlates with increased insulin secretion. ",校对中... +HP:0030799,Scaphocephaly ,舟状头,Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). Scaphocephaly is caused by a precocious fusion of sagittal suture without other associated synostosis. ,校对中... +HP:0030800,Abnormal visual accommodation ,视觉调节异常,"An anomaly in the process of visual accommodation, which is the process of adjustment of the eye to enable sharp vision of objects at different distances. Accommodation is mediated by contraction of the ciliary muscles, which alter the convexity of the lens and, consequently, its refractive power. ",校对中... +HP:0030802,Lower eyelid retraction ,下眼睑退缩,Inferior malposition of the lower eyelid margin without eyelid eversion. ,校对中... +HP:0030804,Trachyonychia ,指甲粗糙脆裂,Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix. ,校对中... +HP:0030809,Abnormal tongue morphology ,舌头形态异常,Any structural anomaly of the tongue. ,校对中... +HP:0030810,Abnormal tongue physiology ,舌头生理异常,Any functional anomaly of the tongue. ,校对中... +HP:0030811,Tongue pain ,舌痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the tongue. ",校对中... +HP:0030812,Enlarged tonsils ,扁桃体肿大,"Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. ",校对中... +HP:0030813,Absent tonsils ,扁桃体缺如,Lack of observable tonsillar tissue. ,校对中... +HP:0030814,Orange discolored tonsils ,扁桃体橘色变色,A phenomenon of orange colored oral tonsils. This feature is characteristic of Tangier disease and illustrated will by Figure 1 of PMID:19470903. ,校对中... +HP:0030816,Gingival recession ,牙龈退缩,"The loss of gum tissue. The result is that gum tissue is recessed and its position on the tooth is lowered, exposing the roots of the teeth. ",校对中... +HP:0030820,Hooded eyelid ,眼睑悬垂,Eyelid partly covered by skin when eyes are open. ,校对中... +HP:0030822,Hooded upper eyelid ,上眼睑悬垂,Upper eyelid partly covered by skin when eyes are open. ,校对中... +HP:0030823,Scleral thickening ,巩膜增厚,Increased dimension of the sclera in the anterior-posterior axis. ,校对中... +HP:0030824,Mizuo phenomenon ,水尾现象,"Change in the color of the fundus from red in the dark-adapted state to golden immediately or shortly after the onset of the light. The color of the fundus reflex in the light adapted state has also been described as golden-yellow, gray-white, and yellow-white. This reflex can appear either homogeneous or in streaks in the fundus. The retinal vessels appear to be protruding in contrast to the radiant background. Dark adaptation leads to disappearance of the unusual fundus coloration [Digital Journal of Ophthalmology 2008; Volume 14, Number 14]. ",校对中... +HP:0030825,Absent foveal reflex ,黄斑中心凹反射缺失,"Lack of the foveal reflex, which normally occurs as a result of the reflection of light from the ophthalmoscope in the foveal pit upon examination. The foveal reflex is a bright pinpoint of light that is observed to move sideways or up and down in response to movement of the opthalmoscope. ",校对中... +HP:0030828,Wheezing ,哮鸣音,A high-pitched whistling sound associated with labored breathing. ,校对中... +HP:0030830,Crackles ,肺啰音,"Crackles are discontinuous, explosive, and nonmusical adventitious lung sounds normally heard in inspiration and sometimes during expiration. Crackles are usually classified as fine and coarse crackles based on their duration, loudness, pitch, timing in the respiratory cycle, and relationship to coughing and changing body position. ",校对中... +HP:0030833,Neck pain ,颈痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the neck. ",校对中... +HP:0030834,Shoulder pain ,肩痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the shoulder. ",校对中... +HP:0030836,Wrist pain ,手腕关节痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the wrist. ",校对中... +HP:0030838,Hip pain ,髋痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the hip. ",校对中... +HP:0030839,Knee pain ,膝痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee. ",校对中... +HP:0030840,Ankle pain ,脚踝痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the ankle. ",校对中... +HP:0030842,Choking episodes ,窒息发作,"Incidents in which a piece of food or other objects get stuck in the upper airway and provoke coughing, gagging, inability to talk, and difficulty breathing. ",校对中... +HP:0030843,Cardiac amyloidosis ,心脏淀粉样变性,"Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding. ",校对中... +HP:0030844,Undetectable pattern electroretinogram ,图形视网膜电图检测不到波形,Absent response to a pattern electroretinogram (PERG). ,校对中... +HP:0030848,Elevated jugular venous pressure ,颈静脉压升高,Increased jugular venous pressure. ,校对中... +HP:0030850,Abnormal pulse pressure ,脉压异常,"An anomaly of the pulse pressure, which is defined as the systolic pressured minus the diastolic pressure. ",校对中... +HP:0030851,Low pulse pressure ,脉压低,Reduced amplitude of the pulse pressure (systolic blood pressure minus diastolic blood pressure). ,校对中... +HP:0030853,Heterotaxy ,内脏异位,An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. ,校对中... +HP:0030854,Scleral staphyloma ,巩膜葡萄肿,A staphyloma is a localized defect in the eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. ,校对中... +HP:0030856,Posterior staphyloma ,后巩膜葡萄肿,A localized defect in the posterior eye wall with protrusion of uveal tissue due to alterations in scleral thickness and structure. ,校对中... +HP:0030857,Eye movement-induced pain ,眼动诱��疼痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye that is worse in certain directions of gaze and during prolonged gaze holding. ",校对中... +HP:0030863,Nasal flaring ,鼻翼煽动,Widening of the nostrils upon inhalation as a manifestation of respiratory distress. ,校对中... +HP:0030865,Large elbow ,肘关节偏大,Abnormal increased size of the elbow joint. ,校对中... +HP:0030866,Large knee ,膝关节偏大,Abnormally increased size of the knee joint. ,校对中... +HP:0030868,Monorchism ,单睾丸,Having only one testis in the scrotum. ,校对中... +HP:0030872,Abnormal cardiac ventricular function ,心室功能异常,An abnormality of the cardiac ventricular function. ,校对中... +HP:0030874,Oxygen desaturation on exertion ,用力时血氧饱和度下降,Oxygen saturation less than 95% on exertion or arterial partial pressure of oxygen falling by more than 1kPa. ,校对中... +HP:0030877,Reduced FEV1/FVC ratio ,1秒率下降,Abnormally low FEV1/FVC (FEV1 - forced expiratory volume in 1 second; FVC forced vital capacity). ,校对中... +HP:0030878,Abnormality on pulmonary function testing ,肺功能检测结果异常,"Any anomaly measure by pulmonary function testing, which includes spirometry, measures of diffusing capacity, and plethysmography. ",校对中... +HP:0030879,Interlobular septal thickening ,小叶间隔增厚,Presence of thickening of the interlobular septa of the lungs as seen on a CT scan. ,校对中... +HP:0030880,Raynaud phenomenon ,雷诺现象, , +HP:0030882,Coronary artery aneurysm ,冠状动脉瘤,Enlargement of the diameter (cross-section) of a coronary artery as defined by a focal dilation of a segment at least 1.5 times larger than the reference vessel. ,校对中... +HP:0030883,Femoroacetabular impingement ,股骨髋臼撞击症,"Femoroacetabular impingement (FAI) results from one or more bony abnormalities that lead to abnormal contact between the acetabulum and the femoral head or neck. The femoral abnormality is proposed to cause compression and shear stresses in the region between the labrum and cartilage, anterosuperiorly. These stresses cause a separation between the labrum and cartilage as the labrum is pushed outwards and the cartilage is pushed centrally. This eventually leads to articular degeneration and eventually global hip osteoarthritis. ",校对中... +HP:0030884,Gastrojejunal tube feeding in infancy ,婴儿胃空肠管饲,Feeding problem necessitating gastrojejunal tube feeding. ,校对中... +HP:0030889,Congenital shortened small intestine ,先天性小肠短缩,Substantially shortened length of the small intestine as a result of a developmental defect. ,校对中... +HP:0030890,Hyperintensity of cerebral white matter on MRI ,MRI脑白质高信号,A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter. ,校对中... +HP:0030891,Periventricular white matter hyperdensities ,脑室旁白质高信号,Areas of brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter that surrounds the cerebral ventricles. ,校对中... +HP:0030892,Deep cerebral white matter hyperdensities ,深部脑白质高信号,Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system. ,校对中... +HP:0030897,Decreased intestinal transit time ,肠道通过时间缩短,A reduction in the length of time required for food to pass through the intestines. ,校对中... +HP:0030900,Pruritus on foot ,足部瘙痒,Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the skin of the foot. ,校对中... +HP:0030902,Palmomental reflex ,掌颌反射,A type of primitive reflex characterized by an involuntary contraction of the mentalis muscle of the chin caused by stimulation of the thenar eminence of the palm. ,校对中... +HP:0030903,Grasp reflex ,抓握反射/握持反射,"A type of primitive reflex that can be elicated when the hand of the examiner is gently inserted into the palm of the patient's hand. The palmar surface is stroked or simply touched. The flexor surfaces of the fingers may be stimulated also by the examiner's fingers. The stimulus should be in a distal direction. With a positive response, the patient grasps the examiner's hand with variable strength and continues to grasp as the examiner's hand is moved. Ability to release the grip voluntarily depends on the activity of the reflex; some patients can do so readily, while others can even be lifted off the bed, since the grasp has such power [NCBI Books:NBK395]. ",校对中... +HP:0030904,Glabellar reflex ,眉心反射,"A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign. ",校对中... +HP:0030906,Suck reflex ,吸吮反射,"A type of primitive reflex that is elicited by lightly touching or tapping on the lips with an object such as a tongue blade, reflex hammer, or the examiner's finger. At times the reflex is obtained merely by approaching the lips with an object. A positive suck reflex consists of sucking movements by the lips when they are stroked or touched. ",校对中... +HP:0030909,Anti-liver cytosolic antigen type 1 antibody positivity ,抗肝细胞胞浆抗原1型抗体阳性,The presence of autoantibodies (immunoglobulins) in the serum that react against a 60-kd peptide contained in the liver cytosolic fraction. ,校对中... +HP:0030913,Exaggerated rugosity of the labia majora ,大阴唇褶皱增多,Marked rugae formation of the skin of the labia majora. ,校对中... +HP:0030914,Abnormal peristalsis ,（消化道）蠕动异常,An anomaly of the wave-like muscle contractions of the digestive tract. ,校对中... +HP:0030915,Cerebellar edema ,小脑水肿,Swelling from fluid accumulation (serous fluid infiltration into the interstitial space) in the cerebellum. ,校对中... +HP:0030917,Low APGAR score ,低APGAR评分, , +HP:0030918,Low 1-minute APGAR score ,1分钟APGAR评分低, , +HP:0030921,5-minute APGAR score of 1 ,5分钟APGAR评分1分, , +HP:0030925,5-minute APGAR score of 5 ,5分钟APGAR评分5分, , +HP:0030927,1-minute APGAR score of 0 ,1分钟APGAR评分0分, , +HP:0030928,1-minute APGAR score of 1 ,1分钟APGAR评分1分, , +HP:0030939,Palpebral thickening ,眼睑增厚,An increased thickness of the eyelid not related to acute inflammation. ,校对中... +HP:0030948,Elevated gamma-glutamyltransferase level ,γ-谷氨酰转移酶活性增高,"Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. ",校对中... +HP:0030949,Glomerular deposits ,肾小球沉积,An abnormal accumulation of protein in the glomerulus. ,校对中... +HP:0030950,Pulmonary venous hypertension ,肺静脉高压,"An abnormal increase in pressure in the pulmonary veins, usually as a result of left atrial hypertension. ",校对中... +HP:0030951,Skeletal muscle fibrosis ,骨骼肌纤维化,Excessive formation of fibrous bands of scar tissue in between muscle fibers. ,校对中... +HP:0030953,Conjunctival hyperemia ,结膜充血,Dilatation of the blood vessels of the conjunctiva leading to a red appearance of the sclera. ,校对中... +HP:0030955,Alcoholism ,酗酒,"An addictive behavior defined as drinking excessive amounts of alcohol over a long period of time, having difficulty reducing the amount of alcohol consumed, strongly desiring alcohol and experiencing withdrawal symptoms when not drinking alcohol. ",校对中... +HP:0030961,Microspherophakia ,小球形晶状体,Lens of the eye is smaller than normal and spherically shaped. ,校对中... +HP:0030962,Abnormal morphology of the great vessels ,大血管形态异常,"A structural anomaly affecting a blood vessel involved in the circulation of the heart, i.e., the superior or inferior vena cava, the pulmonary arteries, the pulmonary veins, and the aorta. ",校对中... +HP:0030968,Abnormal pulmonary vein morphology ,肺静脉畸形,An abnormality of the structure of the pulmonary veins. ,校对中... +HP:0030973,Postexertional malaise ,劳累后不适,A subjective feeling of tiredness characterized by a lack of energy and motivation and that is induced by exertion or exercise. ,校对中... +HP:0030974,Cryptozoospermia ,隐匿精子症,"A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made (and azoospermia can be ruled out). ",校对中... +HP:0030977,Increased factor VIII activity ,因子VIII活性增高,"Increased activity of the coagulation factor VIII. Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X. ",校对中... +HP:0030978,Decreased CSF/serum albumin ratio ,脑脊液白蛋白与血清白蛋白的比值下降,A reduction below normal limits of the ratio of the cerebrospinal fluid (CSF) albumin concentration to serum albumin concentration. ,校对中... +HP:0030980,Reduced brain glutamine level by MRS ,MRS分析大脑谷氨酰胺水平偏低,An decrease in the level of glutamine in the brain identified by magnetic resonance spectroscopy (MRS). ,校对中... +HP:0030983,Ovarian thecoma ,卵泡膜细胞瘤,"A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types. ",校对中... +HP:0030984,Abnormal serum bile acid concentration ,血清胆汁酸浓度异常,A deviation from the normal concentration of serum bile acid concentration. ,校对中... +HP:0030991,Sclerosing cholangitis ,硬化性胆管炎,"Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative. ",校对中... +HP:0030992,Abnormal pancreatic duct morphology ,胰管形态学异常,"Any structural anomaly of the pancreatic duct, which is the tubular structure that collects exocrine pancreatic secretions and transports them to the duodenum. ",校对中... +HP:0030996,Megaduodenum ,巨十二指肠,Dilation and elongation of the duodenum with hypertrophy of all layers of the duodenum. ,校对中... +HP:0030997,Atretic vas deferens ,输精管闭锁,Abnormal closure or blockage of the vas deferens. ,校对中... +HP:0030998,Cerebrospinal fluid rhinorrhoea ,脑脊液鼻漏,Drainage of cerebrospinal fluid through the nose. This can occur when there is a fistula between the dura and the skull base and discharge of cerebrospinal fluid (CSF) from the nose. ,校对中... +HP:0031006,Acroparesthesia ,肢端感觉障碍,"A type of paresthesia (tingling, pins-and-needles, burning or numbness or stiffness) that occurs in the hands and feet and particularly in the fingers and toes. ",校对中... +HP:0031008,Lingual dystonia ,舌肌肌张力障碍,"Involuntary protrusions, movements, spams and contortions of the tongue. ",校对中... +HP:0031013,Ankylosis ,关节僵硬,A reduction of joint mobility resulting from changes involving the articular surfaces. ,校对中... +HP:0031014,Arteria lusoria ,压迫性动脉,"Usually, three large arteries arise from the arch of the aorta: the brachiocephalic trunk (divided into the right common carotid artery and the right subclavian artery), the left common carotid artery, and the left subclavian artery. However, when aberrant right subclavian artery variant is present, the brachiocephalic trunk is absent and four large arteries arise from the arch of the aorta: the right common carotid artery, the left common carotid artery, the left subclavian artery, and the final one with the most distal left sided origin, the right subclavian artery, also called the arteria lusoria. ",校对中... +HP:0031020,Bone marrow hypercellularity ,骨髓细胞过多,A larger than normal amount or percentage of hematopoietic cells relative to marrow fat. ,校对中... +HP:0031023,Multiple mucosal neuromas ,多发性粘膜神经瘤,"Multiple painful, dome-shaped, translucent pink to skin-colored papules on oral mucosa. Histologically, the lesions may demonstrate dermal proliferation of well-demarcated nerve bundles associated with abundant mucin and surrounded by a distinct perineural sheath. ",校对中... +HP:0031026,Snail-like ilia ,蜗牛状髂骨,The ilia is round and hypoplastic with a very flat acetabular roof and a very unusual medial projection of bone that is said to resemble the head of a snail. Figure 4 of PMID:3799723 illustrates this feature. ,校对中... +HP:0031028,Lactescent serum ,乳状血清,"Serum sample with a grossly white (milk-like, i.e., lactescent) appearance. This feature is indicative of an extremely elevated serum triglyceride level. ",校对中... +HP:0031029,Elevated carcinoembryonic antigen level ,癌胚抗原水平增高,"An increased blood concentration of the carcinoembryonic antigen (CEA). CEA is a member of the immunoglobulin supergene family. The human CEA gene family is clustered on chromosome 19q and comprises 29 genes. CEA is highly expressed in embryonic tissue and in some cancers, and is a widely used tumor marker. ",校对中... +HP:0031030,Elevated carcinoma antigen 125 level ,癌抗原CA125水平增高,"An increased blood concentration of carcinoma antigen 125 (CA-125). CA-125, also known as mucin 16, can exhibit increased blood levels in certain types of cancer. ",校对中... +HP:0031033,Impaired urinary acidification ,尿酸化受损,The kidney contributes towards acid-base homeostasis by excreting H+ ions and retaining bicarbonate. This process is known as acidification of the urine. The pH of urine ranges normally from 4.5 to 8. The inability to reduce the pH of the urine in a situation where it would be otherwise expected is known as an acidification defect. ,校对中... +HP:0031035,Chronic infection ,慢性感染,Presence of a protracted or persistent infection by a pathogen potentially related to an underlying abnormality of the immune system that is not able to clear the infection. ,校对中... +HP:0031038,Spermatogenesis maturation arrest ,生精成熟阻滞,"Maturation arrest (MA) is defined as germ cells that fail to complete maturation. Uniform MA is characterized by spermatogenic arrest at the same stage of spermatogenesis throughout the seminiferous tubules. MA is subcategorized into early MA, in which only spermatogonia or spermatocytes are found, and late MA, in which spermatids are detected without spermatozoa. ",校对中... +HP:0031039,Early spermatogenesis maturation arrest ,早期生精阻滞,A type of maturation arrest in which only spermatogonia or spermatocytes are found. ,校对中... +HP:0031041,Obstruction of the superior vena cava ,上腔静脉梗阻,"Blockage of blood flow through the superior vena cava (SVC). Because the venous drainage from the upper extremities, upper thorax and head is obstructed, SVC obstruction presents with symptoms related to engorgement of these areas. Both the degree of SVC compromise and the extent of collateral veins determine the varied clinical presentation, which can be as mild as slight facial and upper extremity edema or as dire as intracranial swelling, seizures, hemodynamic instability and tracheal obstruction. ",校对中... +HP:0031045,Acral blistering ,肢端水泡,Bullae (defined as fluid-filled blisters more than 5 mm in diameter with thin walls) of the skin with an acral distribution (affecting peripheral regions such as hands and feet). ,校对中... +HP:0031047,Paraproteinemia ,副蛋白血症,An abnormal immunoglobulin or part of an Ig (light chain) in the circulation. Paraproteins are typically produced by a clonal population of B-cell derived plasma cells. ,校对中... +HP:0031051,Tarsal sclerosis ,跗骨硬化,An elevation in bone density in one or more tarsal bones of the foot. Sclerosis is normally detected on a radiograph as an area of increased opacity. ,校对中... +HP:0031056,Fusiform cerebral aneurysm ,梭形脑动脉瘤,"A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery. ",校对中... +HP:0031057,Skin fissure ,皮肤裂痕,A clearly-defined and roughly linear cleavage in the skin that usually extends to the dermis. ,校对中... +HP:0031058,Impairment of activities of daily living ,日常生活活动障碍,"Difficulty in performing one or more activities normally performed every day, such as eating, bathing, dressing, grooming, work, homemaking, and leisure. ",校对中... +HP:0031060,Impaired ability to dress oneself ,穿衣能力受损,This applies to an individual who needs help with dressing or needs to be completely dressed. ,校对中... +HP:0031061,Impaired toileting ability ,如厕能力受损,"This term applies to an individual who requires help transferring to the toilet, cleaning self or who uses bedpan or commode. ",校对中... +HP:0031064,Impaired continence ,失禁,Partial or total incontinence of bowel or bladder. ,校对中... +HP:0031069,Abnormal femoral torsion ,股骨异常扭转,"Femoral torsion, also known as femoral rotation or femoral version, refers to the twist between the proximal and distal parts of the femur on the transverse plane. Femoral anteversion averages between 30-40 degress at birth, and between 8-14 degrees in adults. This term applies if the amount of femoral torsion deviates from this range. ",校对中... +HP:0031072,Abnormal endocrine physiology ,内分泌生理学异常,Any anomaly of the function of the endocrine system. ,校对中... +HP:0031074,Abnormal response to ACTH stimulation test ,ACTH刺激试验反应异常,An anomolous response to stimulation by adminstration of the adrenocorticotropic hormone (ACTH). ACTH stimulation normally stimulates the adrenal glands to release cortisol and adrenaline. ,校对中... +HP:0031076,Impaired cortisol response to insulin stimulation test ,皮质醇对胰岛素刺激试验的反应受损,Failure of cortisol levels to respond adequately (by increasing) to the insulin tolerance test (ITT). ,校对中... +HP:0031077,Abnormal response to corticotropin releasing hormone stimulation test ,促肾上腺皮质激素释放激素刺激试验反应异常,"An anomalous response to the corticotropin releasing hormone (CRH) stimulation test. Normally,CRH is released by the hypothalamus to induce adrenocorticotropic hormone (ACTH) release by the anterior pituitary. In the stimulation test, CRH is administered intravenously and ACTH and cortisol are measured at intervals. ",校对中... +HP:0031079,Impaired growth-hormone response to insulin stimulation test ,生长激素对胰岛素刺激试验的反应受损,Failure of growth hormone levels to respond adequately (by increasing) to the insulin tolerance test (ITT). ,校对中... +HP:0031080,Abnormal response to glucagon stimulation test ,胰高血糖素刺激试验反应异常,"An anomalous response to the glucagon stimulation test, which like the insulin tolerance test (ITT) stimulates the release of both adrenocorticotropic hormone (ACTH) and growth hormone (GH). ",校对中... +HP:0031082,Impaired growth-hormone response to glucagon stimulation test ,生长激素对胰高血糖素刺激试验的反应受损,Failure of growth hormone levels to respond adequately (by increasing) to the glucagon stimulation test. ,校对���... +HP:0031083,Abnormal response to human chorionic gonadotrophin stimulation test ,人绒毛膜促性腺激素刺激试验反应异常,An anomalous response to intravenous stimulation by human chorionic gonadotrophin. Stimulation with hCG stimulates testicular Leydig cells to secrete androgens via the Leydig hormone receptors. ,校对中... +HP:0031084,Excessive insulin response to glucagon test ,胰岛素对胰高血糖素试验反应过度,An abnormally high increase in insulin levels following a glucagon stimulation test. ,校对中... +HP:0031085,Decreased prealbumin level ,前白蛋白水平降低,"A reduced concentration of prealbumin in the blood. Prealbumin, also known as transthyretin, has a half-life in plasma of about 2 days, much shorter than that of albumin. Prealbumin is therefore more sensitive to changes in protein-energy status than albumin, and its concentration closely reflects recent dietary intake rather than overall nutritional status. ",校对中... +HP:0031087,Absent pubertal growth spurt ,缺乏青春期生长突增,The abrupt and transient increase in the annual growth rate normally observed in adolescent individuals does not occur. ,校对中... +HP:0031088,Vaginal dryness ,阴道干涩,Persistent vaginal dryness. ,校对中... +HP:0031092,Spindle-shaped finger ,梭状指,"Swelling of the hand at the knuckles, that gives the fingers a spindle shape (i.e., a round stick with tapered end and a broader base). ",校对中... +HP:0031096,Delayed vertebral ossification ,椎骨骨化延迟,A decrease in the amount of mineralized bone in one or more vertebrae compared with that expected for a given developmental age. ,校对中... +HP:0031098,Decreased thyroid-stimulating hormone level ,促甲状腺激素水平降低,"Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland. ",校对中... +HP:0031100,Decreased inhibin B level ,抑制素B水平降低,A reduced concentration of inhibin B in the blood. ,校对中... +HP:0031102,Increased antimullerian hormone level ,抗苗勒氏管激素水平升高,An elevation above the normal range of the antimullerian hormone in the circulation. ,校对中... +HP:0031103,Decreased antimullerian hormone level ,抗苗勒氏管激素水平降低,A reduction below the normal range of the antimullerian hormone in the circulation. ,校对中... +HP:0031104,Insulin receptor antibody positivity ,胰岛素受体抗体阳性,The presence of autoantibodies (immunoglobulins) in the serum that react against the insulin receptor. ,校对中... +HP:0031107,Decreased fibular diameter ,腓骨直径减小,Reduced width of the cross sectional diameter of the fibula. ,校对中... +HP:0031108,Triceps weakness ,肱三头肌无力,"A lack of strength in the triceps muscle, which normally is responsible for extending (straightening) the elbow and mediating certain shoulder movements. ",校对中... +HP:0031109,Agalactia ,无泌乳,Failure of secretion of milk following childbirth associated with an inability to breastfeed an infant. ,校对中... +HP:0031123,Recurrent gastroenteritis ,复发性肠胃炎,"Increased susceptibility to gastroenteritis, an infectious inflammationof the stomach and small intestines manifested by signs and symptoms such as diarheas and abdominal pain, as manifested by recurrent episodes of gastroenteritis. ",校对中... +HP:0031126,Impaired clot retraction ,血凝块回缩受损,"Platelets contain contractile proteins (actin and myosin) that induce clot retraction. As the platelets contract, they pull on the surrounding fibrin strands, squeezing serum form the mass, compacting the clot and drawing the ruptured edges of the blood vessel more closely together. Clot retraction is directly proportional to the platelet count and inversely proportional to the fibrinogen concentration. ",校对中... +HP:0031136,Decreased acrosin in sperm head ,精子头顶体酶降低,"A reduced amount of the enzyme acrosin in the sperm head acrosome. The acrosome is an organelle in the anterior half of the head of spermatozoa, and acrosin is a protease that contributes to the digestation of the zona pellucida in the fertilization process. ",校对中... +HP:0031138,Abnormal B-type natriuretic peptide level ,B型钠尿肽水平异常,A deviation from the normal circulating concentration of B-type natriuretic peptide (BNP). ,校对中... +HP:0031139,Frog-leg posture ,蛙足姿势,A type of rest posture in an infant that indicated a generalized reduction in muscle tone. The hips are flexed and the legs are abducted to an extent that causes the lateral thigh to rest upon the supporting surface. This posture is said to resemble the legs of a frog. ,校对中... +HP:0031141,Increased hepatic echogenicity ,肝回声增强,"Increased echogenicity of liver tissue on sonography, manifested as an increased amount of white on the screen of the sonography device. ",校对中... +HP:0031146,Impaired oral bolus formation ,口腔内食物成团状能力受损,An abnormality of swallowing characterized by reduced tongue coordination to form bolus after chewing. Food material spreads over the oral cavity instead of being concentrated into a bolus that is easily swallowed. ,校对中... +HP:0031152,Full-thickness macular hole ,黄斑全层裂孔,Full-thickness macular hole (FTMH) is defined as a foveal lesion with interruption of all retinal layers from the internal limiting membrane to the retinal pigment epithelium. Full-thickness macular hole is primary if caused by vitreous traction or secondary if directly the result of pathologic characteristics other than vitreomacular traction. Full-thickness macular hole is subclassified by size of the hole as determined by OCT and the presence or absence of vitreomacular traction. ,校对中... +HP:0031153,Membranous vitreous appearance ,玻璃体膜状外观,Vitreous humor of the eye displaying consisting of a vestigial gel in the retrolental space bounded by a convoluted membrane. ,校对中... +HP:0031156,Decreased platelet glycoprotein Ib ,血小板膜上糖蛋白Ib减少,Decreased platelet cell membrane concentration of glycoprotein Ib. ,校对中... +HP:0031157,Carotid cavernous fistula ,颈动脉海绵窦瘘,An abnormal connection between a carotid artery and the cavernous sinus. ,校对中... +HP:0031158,Widened atrophic scar ,萎缩性疤痕增宽,"An atrophic scar (fibrous connective tissue resulting from incomplete healing of a wound) that has stretched (gotten wider), a manifestation of tissue fragility. ",校对中... +HP:0031159,Thinning of Descemet membrane ,后弹力层变薄,A reduction in the thickness of Descemet's membrane. ,校对中... +HP:0031160,Myelokathexis ,无效生成性慢性粒细胞缺乏,Impaired egress of mature neutrophils from bone marrow causing neutropenia. ,校对中... +HP:0031161,Reduced brain glutamate level by MRS ,MRS分析大脑谷氨酸盐水平偏低,An decrease in the level of glutamate (Glu) in the brain identified by magnetic resonance spectroscopy (MRS). ,校对中... +HP:0031162,Impaired oropharyngeal swallow response ,吞咽反应障碍,"Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars. ",校对中... +HP:0031164,Growth arrest lines ,生长停滞线,Growth arrest lines are alternating transverse rings of sclerosis at the metaphysis of a long bone. ,校对中... +HP:0031165,Multifocal seizures ,多灶性癫痫发作,"Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations). ",校对中... +HP:0031166,Eyelid myokymia ,眼睑肌颤搐,"Involuntary, fine, continuous, undulating contractions of the eyelid. ",校对中... +HP:0031169,Postterm pregnancy ,过期妊娠,A pregnancy that extends to 42 weeks of gestation or beyond. ,校对中... +HP:0031171,Femoral spur ,股骨骨刺,"A bony projection (spur, osteophyte) originating from the femur, often in the medial femoral neck. ",校对中... +HP:0031174,Double-layered patella ,双层髌骨,An anomaly of the patella characterized by two layers visible on lateral knee X-ray such that one layer is in front of the other in the sagittal orientation (See Figure 2A and 3B of PMID:12966518). This finding persists into adulthood. ,校对中... +HP:0031177,Finger flexor weakness ,指屈肌无力,Reduced ability to flex (bend) the fingers. This can manifest as incomplete closure of the hand due to weakness in finger flexion. ,校对中... +HP:0031179,Nuchal rigidity ,颈部僵硬,"Resistance of the extensor muscles of the neck to being bent forwards (i.e., impaired neck flexion) as a result of muscle spasm of the extensor muscles of the neck. Nuchal rigidity is not a fixed rigidity. Nuchal rigidity has been used as a bedside test for meningism, although its sensitivity for this purpose has been debated. ",校对中... +HP:0031180,Erythema migrans ,游走性红斑,"An expanding erythematous (red) skin lesion, usually round or oval, by definition at least 5 cm in size (in largest diameter). ",校对中... +HP:0031185,Increased circulating NT-proBNP concentration ,NT-proBNP水平增高,An elevated level of circulating N-terminal part of the prohormone of B-type natriuretic peptide (BNP). ,校对中... +HP:0031187,Abnormal circulating pregnenolone concentration ,循环孕烯醇酮浓度异常,An abnormality of the concentration of pregnenolone in the blood. ,校对中... +HP:0031188,Genital edema ,生殖器水肿,A buildup of fluid that causes swelling in the soft tissues of the genital area. ,校对中... +HP:0031189,Wrist drop ,垂腕,"A condition in which the affected individual cannot extend the wrist, which hangs flaccidly. ",校对中... +HP:0031190,Superficial dermal perivascular inflammatory infiltrate ,真皮浅层血管周围炎性浸润,Numerous lymphocytes surrounding blood vessels in the superfical part of the dermis. ,校对中... +HP:0031193,Abnormal morphology of right ventricular trabeculae ,右心室小梁形态异常,"Any structural anomaly of the muscular columns which project from the inner surface of the right ventricle of the heart (cardiac trabeculae, trabeculae carneae). ",校对中... +HP:0031205,Reduced lysosomal acid lipase activity ,溶酶体酸性脂肪酶活性降低,Reduction in the activity of lysosomal acid lipase (LAL) in the blood. Lysosomal lipase activity is measured. LAL hydrolyzes cholesteryl esters derived from cell internalization of plasma lipoproteins. ,校对中... +HP:0031206,Striatal T2 hyperintensity ,纹状体T2高信号,Abnormally bright T2 signal from the striatum on brain magnetic resonance imaging. ,校对中... +HP:0031208,Increased pituitary glycoprotein hormone alpha subunit level ,垂体糖蛋白α-亚基水平升高,"An increased concentration of circulating alpha polypeptide of glycoprotein hormones (NCBI Gene 1081). This alpha subunit is common to luteinizing hormone (LH) , follicle stimulating hormone (FSH) , thyroid stimulating hormone (TSH) and human chorionic gonadotropin (hCG), which are glycoprotein hormones composed of an identical alpha subunit together with a beta subunit that confers biological specificity. The alpha subunit is used as a marker for tumors that produce these hormones. ",校对中... +HP:0031209,Decreased circulating lipoprotein lipase concentration ,脂蛋白脂肪酶活性降低,Reduction in the level of lipoprotein lipase in the blood. ,校对中... +HP:0031213,Elevated circulating 17-hydroxyprogesterone ,循环17-羟孕酮升高,An increased level of 17-hydroxyprogesterone in the blood. 17-hydroxyprogesterone is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. ,校对中... +HP:0031214,Decreased circulating dehydroepiandrosterone concentration ,循环脱氢表雄酮浓度下降, , +HP:0031215,Decreased circulating dehydroepiandrosterone-sulfate concentration ,循环脱氢表雄酮-硫酸酯浓度降低,A reduced concentration of dehydroepiandrosterone-sulfate in the blood. ,校对中... +HP:0031216,Increased circulating progesterone ,循环孕激素升高,An elevated concentration of progesterone in the blood. ,校对中... +HP:0031218,Inappropriate antidiuretic hormone secretion ,抗利尿激素分泌失衡,A state of increased circulating antidiuretic hormone despite hyponatremia and hypo-osmolality with normal or increased plasma volume. ,校对中... +HP:0031219,Reduced radioactive iodine uptake ,放射性碘摄取减少,"A decreased amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. ",校对中... +HP:0031220,Increased radioactive iodine uptake ,放射性碘摄取增多,"An elevated amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. ",校对中... +HP:0031221,Abnormal radioactive iodine uptake test result ,放射性碘摄取试验异常,"Any deviation from normal in the amount of uptake on the radioactive iodine uptake (RAIU) test, which utilizes a radioisotope of iodine to measure how much iodine the thyroid gland absorbs from the blood. The radioactive marker is measured 4-6 hours and in some cases also 24 hours after administration of the radioactive marker. ",校对中... +HP:0031223,Focal pancreatic islet hyperplasia ,局灶性胰岛增生,Hyperplasia of the islets of Langerhans that affects only certain regions of the pancreas and not others. ,校对中... +HP:0031224,Diffuse pancreatic islet hyperplasia ,弥漫性胰岛增生,Hyperplasia of the islets of Langerhans with a generalized distribution. ,校对中... +HP:0031228,Abnormal incisura morphology ,耳前切迹形态异常,"An abnormal shape of the incisura, defined as the narrowed downward continuation of the conchal space bounded anteriorly by the borders of the tragus, posteriorly by the antitragus, and along its lower lateral margins and inferior boundary by the connection between the first two. The upper boundary is a somewhat arbitrary line crossing from the apices of the antitragus and the tragus. ",校对中... +HP:0031229,Increased incisura length ,耳前切迹长度增加,The length of the incisura from the upper to lower border is greater than that observed in the average population. ,校对中... +HP:0031233,Horizontal inferior border of scapula ,水平状肩胛骨下缘,"A morphological abnormality of the scapula in which there is a flat (horizontal) inferior edge of the scapula. The entire scapula is said to resemble a square, leading to the designation sqaring of the scapula (in Figure 1 of PMID:24706940 the scapulae have a roughly rectangular shape). ",校对中... +HP:0031234,Neutrophilic infiltration of the skin ,皮肤中性���细胞浸润,"A predominantly neutrophilic infiltrate of the dermis and or epidermis (i.e., a large number of neutrophils inferred to have migrated into the skin). ",校对中... +HP:0031236,Predominantly dermal neutrophilic infiltrate ,嗜中性粒细胞为主真皮浸润,Collection of neutrophils in the dermis. ,校对中... +HP:0031237,Internally nucleated skeletal muscle fibers ,骨骼肌纤维中细胞核内聚,An abnormality in which the nuclei of sarcomeres take on an abnormally internal localization (or in which this feature is found in an increased proportion of muscle cells). ,校对中... +HP:0031238,Necklace skeletal muscle fibers ,项链样骨骼肌纤维,"A histological alteration of muscle fibers that resembles a necklace (necklace fibers). A substantial proportion of fibers (4-20% in PMID:19084976) show internalized nuclei aligned in a basophilic ring (necklace) at 3 micrometers beneath the sarcolemma. Ultrastructurally, such necklaces consist of myofibrils of smaller diameter, in oblique orientation, surrounded by mitochondria, sarcoplasmic reticulum and glycogen granules. ",校对中... +HP:0031244,Swollen lip ,嘴唇肿大,Enlargement of the lip typically due to fluid buildup or inflammation. ,校对中... +HP:0031245,Productive cough ,痰咳,A cough that produces phlegm or mucus. ,校对中... +HP:0031246,Nonproductive cough ,干咳,A cough that does not produce phlegm or mucus. ,校对中... +HP:0031248,Palmar pruritus ,手掌瘙痒症,Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased sensation of itching over the palm(s) of the hand. ,校对中... +HP:0031250,Lip fissure ,口唇干裂,"A severe crack in a lip. A lip fissure may be painful, may bleed and often is a recurring manifestation. ",校对中... +HP:0031251,Abnormal subclavian artery morphology ,锁骨下动脉形态异常,Any anomaly of a subclavian artery. ,校对中... +HP:0031258,Delirium ,谵妄,A state of sudden and severe confusion. ,校对中... +HP:0031260,Triangular tibia ,三角状胫骨,"A short, dysplastic tibia with a triangular shape. Instead of the normal shaft configuration of the tibia, the tibia forms a triangle with the longest side corresponding to the proximal-distal dimension, and the apex of the triangle directed laterally. ",校对中... +HP:0031261,Bladder polyp ,膀胱息肉,An abnormal growth that projects from the mucous membrane of the urinary bladder. ,校对中... +HP:0031266,Podocyte foot process effacement ,足细胞足突消失,"An anomaly of podocyte morphology characterized by the loss of the interdigitating foot process pattern (generally called foot process effacement; FPE). The term FPE designates the loss of the usual interdigitating pattern of foot processes of neighboring podocytes, leading to relatively broad expanses of podocyte processes covering the glomerular basement membrane (GBM). It is widely viewed as a pathological derangement that is associated with leakage of macromolecules such as albumin through the glomerular filtration barrier. ",校对中... +HP:0031268,Decreased CD69 upregulation upon TCR activation ,TCR激活CD69上调减弱,Reduced or impaired upregulation of CD69 on T cells after activation via the T cell receptor (TCR). ,校对中... +HP:0031273,Shock ,休克,"The state in which profound and widespread reduction of effective tissue perfusion leads first to reversible, and then if prolonged, to irreversible cellular injury. ",校对中... +HP:0031274,Hypovolemic shock ,血量减少性休克,A state of shock characterized by decreased circulating blood volume in relation to total vascular capacity. This type of shock is characterized by a reduction of diastolic filling pressures. ,校对中... +HP:0031282,Malalignment of the great toenail ,趾甲错位,A lateral deviation of the nail plate of the great toe along the longitudinal axis due to the lateral rotation of the nail matrix. The nail plate grows out in ridges. ,校对中... +HP:0031284,Flushing ,红晕,Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. ,校对中... +HP:0031285,Abnormal perifollicular morphology ,毛囊周围形态异常,Any structural anomaly in the areas surrounding the hair follicles. ,校对中... +HP:0031287,Seborrheic keratosis ,脂溢性角化病,"A raised growth on the skin of older individuals. The lesion usually is initially light tan and may darken to dark brown or nearly black. The consistent feature of seborrheic keratoses is their waxy, pasted-on or stuck-on look. ",校对中... +HP:0031288,Cobblestone-like hyperkeratosis ,鹅卵石样角化过度,"The presence of verrucous, cobblestone-like papules and nodules in a region of skin that is said to have an appearance like that of cobblestones. ",校对中... +HP:0031289,White papule ,白色丘疹,A papule with white color. ,校对中... +HP:0031290,Tuberous xanthoma ,结节性黄瘤,"A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes. ",校对中... +HP:0031291,Ichthyosis follicularis ,毛囊性鱼鳞病,Ichthyosis follicularis is characterized by widespread non inflammatory thorn-like follicular projections. Dyskeratotic papules are most pronounced over the extensor extremities and scalp and are symmetrically distributed. ,校对中... +HP:0031292,Cutaneous abscess ,皮肤脓肿,A circumscribed area of pus or necrotic debris in the skin. ,校对中... +HP:0031293,Digital pitting scar ,手指凹陷性疤痕,Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe. ,校对中... +HP:0031295,Left atrial enlargement ,左心房增大,Increase in size of the left atrium. ,校对中... +HP:0031298,Coronary sinus enlargement ,冠状静脉窦扩张,Abnormal increase in size of the coronary sinus. ,校对中... +HP:0031303,Femoral arterial calcification ,股动脉钙化,An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the femoral artery. ,校对中... +HP:0031304,Iliac arterial calcification ,髂动脉钙化,An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the iliac artery. ,校对中... +HP:0031305,Tibial arterial calcification ,胫动脉钙化,An accumulation of calcium and phosphate in arteries with mineral deposits in the intimal or medial layer of the vessel wall of the tibial artery. ,校对中... +HP:0031318,Myofiber disarray ,肌纤维无序,A nonparallel arrangement of cardiac myocytes. ,校对中... +HP:0031319,Cardiomyocyte hypertrophy ,心肌细胞肥大,An abnormal increase in the volume of cardiac myocytes. ,校对中... +HP:0031320,Cardiomyocyte mitochondrial proliferation ,心肌细胞线粒体增多,An abnormal increase in the number of mitochondria per cardiac myocyte. ,校对中... +HP:0031329,Interstitial cardiac fibrosis ,间质性心脏纤维化,A type of myocardial fibrosis characterized by excessive diffuse collagen accumulation concentrated in interstitial spaces. ,校对中... +HP:0031331,Abnormal cardiomyocyte morphology ,心肌细胞形态异常,"Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. ",校对中... +HP:0031348,Dextrotransposition of the great arteries ,大动脉右转位,A type of transposition of the great arteries (TGA) in which aorta is in front of and primarily to the right of the pulmonary artery. This is the most common kind of TGA. ,校对中... +HP:0031353,Otitis media with effusion ,渗出性中耳炎,Otitis media characterized by thick or sticky fluid behind the tympanic membrane. ,校对中... +HP:0031354,Sleep onset insomnia ,入睡困难型失眠,"Difficulty initiating sleep, that is, increased sleep onset latency. ",校对中... +HP:0031355,Maintenance insomnia ,睡眠维持障碍型失眠,Abnormal difficulty in staying asleep. Affected individuals tend to wake up at night and have difficulty returning to sleep. ,校对中... +HP:0031358,Vegetative state ,植物状态,"Absence of wakefulness and conscience, but (in contrast to coma) with involuntary opening of the eyes and movements (such as teeth grinding, yawning, or thrashing of the extremities). ",校对中... +HP:0031364,Ecchymosis ,瘀斑,A purpuric lesion that is larger than 1 cm in diameter. ,校对中... +HP:0031367,Metaphyseal striations ,干骺端条纹,Longitudinal densities on radiographs located in a metaphysis (the narrow region of a long bone between the epiphysis and the diaphysis). ,校对中... +HP:0031368,Intestinal perforation ,肠穿孔,A hole (perforation) in the wall of the intestine. ,校对中... +HP:0031369,Colon perforation ,结肠穿孔,A hole (perforation) in the wall of the colon. ,校对中... +HP:0031372,Cold paresis ,冷性轻瘫,Increased muscle weakness upon exposure to cold temperatures. ,校对中... +HP:0031374,Ankle weakness ,踝关节无力,Reduced strength of the muscles that lift or otherwise move the foot at the ankle. ,校对中... +HP:0031378,Abnormal lymphocyte proliferation ,淋巴细胞异常增殖,"Any abnormality in the multiplication or reproduction of lymphocytes, which results in the expansion of a cell population. ",校对中... +HP:0031380,Abnormal B cell proliferation ,B细胞异常增殖,"Any abnormality in the multiplication or reproduction of B cells, which results in the expansion of a cell population. ",校对中... +HP:0031381,Decreased lymphocyte proliferation in response to mitogen ,淋巴细胞有丝分裂原应答性增殖减弱,"A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with mitogens, such as phytohemagglutinin (PHA). ",校对中... +HP:0031382,Decreased lymphocyte proliferation in response to anti-CD3 ,淋巴细胞抗CD3应答性增殖减弱,"A decreased proliferative response of lymphocytes in vitro or in vivo, when stimulated with an anti-CD3 antibody against the T-cell co-receptor, CD3. ",校对中... +HP:0031385,Megakaryocyte nucleus hypolobulation ,巨核细胞核分叶过少,The presence of megakaryocytes in the bone marrow whose nuclei are less lobulated than expected for the size of the nucleus. ,校对中... +HP:0031386,Increased micromegakaryocyte count ,小巨核细胞计数增多,"The presence of abnormally high numbers of micromegakaryocytes in the bone marrow. Micromegakaryocytes are mononuclear diploid cells, with a nucleus similar in size to that of a myeloblast or promyelocyte with the cell being less than 30 micrometers in diameter. ",校对中... +HP:0031390,Reduced MHC II surface expression ,表面MHC-II表达降低,A reduction from the normal level of major histocompatibility complex class II molecules expressed at the cell surface. ,校对中... +HP:0031392,Abnormal proportion of CD4-positive T cells ,CD4+ T细胞比例异常,Any abnormality in the proportion of CD4-positive T cells relative to the total number of T cells. ,校对中... +HP:0031393,Abnormal proportion of CD8-positive T cells ,CD8阳性T细胞比例异常,Any abnormality in the proportion of CD8 T cells relative to the total number of T cells. ,校对中... +HP:0031394,Abnormal CD4:CD8 ratio ,CD4/CD8比值异常,Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. ,校对中... +HP:0031397,Decreased proportion of naive T cells ,初始 T 细胞比例减低,An abnormally decreased proportion of naive T cells relative to the total number of T cells. ,校对中... +HP:0031401,"Reduced proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells ",CD4阴性和CD8阴性的α-β调节性T细胞比例降低,"An abnormally decreased proportion of CD4-negative, CD8-negative (double negative or DN) alpha-beta regulatory T cells (Tregs) as compared to total number of T cells. ",校对中... +HP:0031402,Reduced antigen-specific T cell proliferation ,抗原特异性T细胞增殖减弱,Impaired proliferation and expansion of a T cell population following activation by an antigenic stimulus. ,校对中... +HP:0031404,Impaired antigen-specific response ,抗原特异性应答损伤,"An impaired immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). ",校对中... +HP:0031405,Poroma ,汗孔瘤,"A benign, well circumscribed sweat gland neoplasm with eccrine or apocrine differentiation. It usually presents as a solitary, dome-shaped papule, nodule, or plaque on acral sites. It is characterized by a proliferation of uniform basaloid cells in the dermis and it is associated with the presence of focal ductal and cystic structures [NCIT:C27273]. ",校对中... +HP:0031408,Increased proportion of CD25+ mast cells ,CD25+肥大细胞比例增高,An increased proportion of mast cells are positive for the cell surface marker CD25 (also called interleukin-2 receptor alpha chain). ,校对中... +HP:0031409,Abnormal lymphocyte physiology ,淋巴细胞生理异常,Any anomaly of lymphocyte function. ,校对中... +HP:0031413,Short telomere length ,端粒缩短,"An abnormal reduction in telomere length. Telomeres are non-coding, repetitive sequences of DNA at the ends of the chromosomes of eukaryotic cells which become shorter as cells divide, and when telomere attrition reaches its limit, cell proliferation arrest, senescence, and apoptosis can occur. ",校对中... +HP:0031415,High serum calcitriol ,血清骨化三醇增高,"An increased concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. ",校对中... +HP:0031417,Rhinorrhea ,鼻溢液,Increased discharge of mucus from the nose. ,校对中... +HP:0031418,Increased body mass index ,体重指数增加,"Abnormally increased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of overweight compared to averages. ",校对中... +HP:0031422,Abnormal cerebellar cortex morphology ,小脑皮质形态异常,Any structural anomaly of the cortex of the cerebellum. ,校对中... +HP:0031423,Small cerebellar cortex ,小脑皮质缩小,Reduced size of the cerebellar cortex. ,校对中... +HP:0031425,Increased circulating beta-C-terminal telopeptide level ,β-C端肽水平增高,A abnormal elevation above the normal concentration of beta-C-terminal telopeptide of type I collagen in the blood circulation. ,校对中... +HP:0031427,Abnormal circulating osteocalcin level ,循环骨钙素水平异常,A deviation from the normal concentration of osteocalcin in the blood circulation. ,校对中... +HP:0031428,Increased circulating osteocalcin level ,循环骨钙素水平升高,An elevated level of osteocalcin in the blood. ,校对中... +HP:0031429,Decreased circulating osteocalcin level ,循环骨钙素水平降低,A reduced level of osteocalcin in the blood. ,校对中... +HP:0031434,Abnormal speech prosody ,说话韵律异常,"An anomaly of the expressive patterns of speech that involve intonation, stress pattern, loudness variations, pausing, articulatory force, and rhythm. ",校对中... +HP:0031435,Monotonic speech ,单音调言语,A speech pattern characterized by abnormally reduced or lacking variability of the pitch of the voice. ,校对中... +HP:0031437,Pregnancy exposure ,妊娠期暴露,"Exposure of pregnant women to toxins from any source, such as environmental toxins or chemicals, that may potentially cause problems such as miscarriage, preterm delivery, low birth weight, and, in some cases, developmental delays in infants. ",校对中... +HP:0031445,Oral mucosa nodule ,口腔黏膜结节,"A palpable, solid lesion greater than 5mm in diameter. that is located in the mucosa of the mouth. ",校对中... +HP:0031446,Erosion of oral mucosa ,口腔黏膜糜烂,Loss of the superficial layer of the oral mucosa usually resulting in a shallow or crusted lesion. ,校对中... +HP:0031447,Penile freckling ,阴茎斑点,Multiple pigmented macules located on the skin of the penis. ,校对中... +HP:0031452,Lichenoid skin lesion ,皮肤苔藓样变,"Mutliple skin lesions resembling those characteristic of the disease lichen planus. These lesions are violaceous (reddish-purple), shiny, isolated, flat-topped papules and plaques. ",校对中... +HP:0031454,Apocrine hidrocystoma ,顶泌汗腺囊瘤,A cystic lesions that forms a benign tumor of an apocrine sweat gland. ,校对中... +HP:0031456,Ectopic pregnancy ,异位妊娠,A pregnancy in which the fertilized egg inserts in a location outside of the main cavity of the uterus (usually in the Fallopian tube). ,校对中... +HP:0031457,Pulmonary opacity ,肺部模糊影,Opacity refers to any area that preferentially attenuates the x-ray beam and therefore appears more opaque than the surrounding area. It is a nonspecific term that does not indicate the size or pathologic nature of the abnormality. ,校对中... +HP:0031459,Soft tissue neoplasm ,软组织肿瘤,"A tumor (abnormal growth of tissue) that arises from the soft tissue. The most common types are lipomatous (fatty), vascular, smooth muscle, fibrous, and fibrohistiocytic neoplasms. ",校对中... +HP:0031464,Genital blistering ,生殖器水泡,"The presence of one or more bullae on the skin of the genital region, defined as fluid-filled blisters more than 5 mm in diameter with thin walls. ",校对中... +HP:0031467,Negative affectivity ,负性情感,"A stable tendency to experience negative emotions, i.e., a disposition to experience aversive emotional states. ",校对中... +HP:0031469,Low self esteem ,低自尊,Negative opinion about oneself characterized by low self-confidence and exaggeratedly critical feelings about oneself. ,校对中... +HP:0031473,Hostility ,敌意,Persistent or frequent angry feelings; anger or irritability in response to minor slights and insults. ,校对中... +HP:0031475,Status epilepticus without prominent motor symptoms ,非惊厥性癫痫持续状态,"There is inconclusive evidence to precisely define the duration of the seizure; however, based on current evidence an operational threshold of 10 minutes is appropriate as beyond this a seizure is likely to be more prolonged. The individual may or may not be aware or in coma. ",校对中... +HP:0031485,Subperiosteal bone formation ,骨膜下骨形成,The formation of new bone along the cortex and underneath the periosteum of a bone. ,校对中... +HP:0031490,Hemangioma of the lip ,唇部血管瘤,A vascular malformation located in the lip that is related to vascular endothelial cell hyperplasia. ,校对中... +HP:0031491,Continuous spike and waves during slow sleep ,慢波睡眠期持续棘慢波的癫痫,"Diffuse, bilateral and recently also unilateral or focal localization spike-wave occurring in slow sleep or non-rapid eye movement sleep. ",校对中... +HP:0031500,Abdominal mass ,腹部肿块,An abnormal enlargement or swelling in the abdomen. ,校对中... +HP:0031501,Pelvic mass ,盆腔肿块,An abnormal enlargement or swelling in the pelvic region. ,校对中... +HP:0031504,Foamy urine ,泡沫尿,Urine has an increased amount of frothy fine bubbles. ,校对中... +HP:0031506,Increased circulating T4 level ,循环T4水平升高,An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). ,校对中... +HP:0031507,Decreased circulating T4 level ,循环T4水平降低,A reduction below the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3). ,校对中... +HP:0031508,Abnormal thyroid hormone level ,甲状腺激素水平异常,Any deviation from the normal range of the hormones produced by the thyroid gland. ,校对中... +HP:0031516,Oocyte arrest at metaphase I ,卵母细胞第一次减数分裂中期停滞,Failure of oocytes to proceed through the stages of meiosis with stoppage at the first metaphase stage. ,校对中... +HP:0031520,Groin pain ,腹股沟痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the groin region. ",校对中... +HP:0031524,Ampulla of Vater carcinoma ,Vater壶腹癌,"A carcinoma originating in the ampulla of Vater (also known as the hepatopancreatic duct), which is formed by the union of the pancreatic duct and the common bile duct. ",校对中... +HP:0031525,Keratoacanthoma ,角化棘皮瘤,"Keratoacanthoma (KA) is a common benign epithelial tumour that originates from the pilosebaceous glands. In most cases, it is characterized by rapid evolution, followed by spontaneous resolution over 4 to 6 months. KA usually presents as a solitary flesh-coloured nodule with a central keratin plug on the sun-exposed skin of elderly individuals. ",校对中... +HP:0031526,Subretinal fluid ,视网膜下积液,Edema/fluid accumulating between the retinal pigment epithelium and Bruch's membrane. ,校对中... +HP:0031528,Subretinal deposits ,视网膜下沉积物,Deposits accumulating between the outer retina and the retinal pigment epithelium. ,校对中... +HP:0031530,Multifocal subretinal deposits ,多灶性视网膜下沉积物,Deposits accumulating between the outer retina and the retinal pigment epithelium and that are distributed with multiple foci. ,校对中... +HP:0031531,Sub-RPE deposits ,视网膜色素上皮下沉积物,Deposits accumulating between the retinal pigment epithelium and Bruch's membrane. ,校对中... +HP:0031535,Increased theta frequency activity in EEG ,脑电图θ节律增多,"Increased frequency of theta wave activity in the electroencephalogram. Theta waves have a frequency of 3.5-7.5 Hertz, and are present in very small amounts in healthy waking adult EEGs. Theta activity is normal in small very amounts in the healthy waking adult EEG in a symmetrical distribution. ",校对中... +HP:0031540,Linear IgG deposits along the epidermal basement membrane zone ,表皮基底膜带的线性lgG沉积,Presence of IgG antibodies in the dermoepidermal junction that are distributed in a linear pattern. This feature can be appreciated by immunofluorescence microscopy. ,校对中... +HP:0031544,Elevated circulating palmitoleylcarnitine concentration ,丙酰基肉碱水平增高,An elevated level of propionylcarnitine in the circulation. Propionylcarnitine is present in high abundance in the urine of patients with Methylmalonyl-CoA mutase (MUT) deficiency. ,校对中... +HP:0031545,Abnormally low T cell receptor excision circle level ,T细胞受体重排删除环水平减低,"Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells. ",校对中... +HP:0031546,Cardiac conduction abnormality ,心脏传导异常,Any anomaly of the progression of electrical impulses through the heart. ,校对中... +HP:0031555,Reduced granulocyte CD59 level ,粒细胞CD59水平降低,Reduced level of CD59 on the granulocyte surface as assessed by flow cytometry. ,校对中... +HP:0031565,Abdominal situs ambiguus ,内脏位置异常,"An abnormality in which the abdominal organs are positioned in such a way with respect to each other and the left-right axis as to be not clearly lateralised and thus have neither the usual, or normal (situs solitus), nor the mirror-imaged (situs inversus) arrangements. ",校对中... +HP:0031566,Abnormal pulmonary valve cusp morphology ,肺动脉瓣尖瓣形态异常,Any structural anomaly of the pulmonary valve leaflets. ,校对中... +HP:0031568,Thickened aortic valve cusp ,主动脉瓣尖增厚,An abnormally increased thickness of a leaflet of the aortic valve. ,校对中... +HP:0031589,Suicidal ideation ,自杀意念,Frequent thinking about or preoccupation with killing oneself. ,校对中... +HP:0031590,Asthenopia ,视疲劳,"Eye strain, i.e., a feeling of fatigue or discomfort of the eyes related to 'overuse' of the eyes in activities such as reading or working at the computer and often accompanied by lacrimation or headache. ",校对中... +HP:0031595,Abnormal P wave ,异常P波,"Any anomaly of the P wave of the EKG, which results from atrial depolarization. The P wave occurs when the sinoatrial node creates an action potential that depolarizes the atria. ",校对中... +HP:0031602,Abnormal mucociliary clearance ,纤毛清除功能异常,"An anomaly in the system of mucociliary transport, which functions to transport the mucous layer lining the respiratory epithelium by ciliary beating. ",校对中... +HP:0031603,Impaired nasal mucociliary clearance ,鼻黏膜纤毛清除功能异常,"An abnormally increased amount of time required to clear mucus (and substances contained in the mucus) from the nasal mucosa. The nasal mucociliary clearance (NMC) system functions to transport the mucous layer lining the nasal epithelium towards the naso pharynx by ciliary beating in a metachronous fashion at a frequency of 7-16 Hz. NMC depends upon two principal components: physicochemical qualities and quantities of mucus and the properties of cilia that propel it. NMC is considered to be representative of pulmonary clearance. normal NMC time is determined to be up to 20 minutes. Duration of 30 minutes is considered as the cutoff point that discriminates normal subjects from subjects with impaired NMC. NMC can be measured by determination of the transport time of markers that are placed on the nasal mucosa including saccharine, radioactive markers, and dyes. ",校对中... +HP:0031605,Abnormality of fundus pigmentation ,眼底色素沉着异常,"Any anomaly of the pigmentation of the fundus, the posterior part of the eye including the retina and optic nerve. ",校对中... +HP:0031606,Retinal cotton wool spot ,视网膜棉絮斑,"Fluffy white patch on the retina, representing localized areas of dense white swelling of the retinal nerve fibre layer. They often have a zigzag internal structure, a feathered edge but an otherwise well-delineated form and an approximately 1 mm dimension; they project slightly into the vitreous and sometimes deflect retinal vessels. ",校对中... +HP:0031609,Geographic atrophy ,地图样萎缩,Sharply demarcated area of partial or complete depigmentation of the fundus reflecting atrophy of the retinal pigment epithelium with associated retinal photoreceptor loss. The margins of the de-pigmented area are usually scalloped and the large choroidal vessels are visible through the atrophic retinal pigment epithelium. ,校对中... +HP:0031610,Recurrent shoulder dislocation ,复发性肩关节脱位,Shoulder dislocation occurring repeated times. ,校对中... +HP:0031625,Pseudoaneurysm ,假性室壁瘤,A contained rupture of an artery with a disruption in all 3 layers of the arterial wall. ,校对中... +HP:0031628,Aborted sudden cardiac death ,心脏性猝死未遂,Cardiac arrest that would have led to rapid and unexpected death had an intervention not taken place to prevent it. ,校对中... +HP:0031629,Impaired tandem gait ,踵趾步态,Reduced ability to walk in a straight line while placing the feet heel to toe. ,校对中... +HP:0031635,Anomalous origin of the left common carotid artery from the brachiocephalic artery ,左颈总动脉于头臂动脉的异常起源,The left common carotid artery normally originates from the aortic arch. This term refers to an origin of this artery from the brachiocephalic artery. ,校对中... +HP:0031649,Aortic rupture ,主动脉破裂,Tearing of the aortic wall generally associated with profuse internal bleeding. ,校对中... +HP:0031655,Quadricuspid aortic valve ,四尖瓣主动脉瓣,The presence of an aortic valve with four instead of the normal three cusps (flaps). ,校对中... +HP:0031656,Systolic anterior motion of the mitral valve ,二尖瓣收缩期前向运动,"Systolic anterior motion of the mitral valve (SAM) is a paradoxical motion of the anterior, and occasionally posterior, mitral valve leaflet towards the left ventricular outflow tract (LVOT) during systole. ",校对中... +HP:0031658,Third heart sound ,第三心音,The third heart sound (S3) is related to rapid filling in diastole. S3 can be a normal finding in children and adolescents but suggests heart failure in older patients. ,校对中... +HP:0031662,Fixed splitting of the second heart sound ,第二心音固定分裂,"Lack of variation in the splitting between the two components of the second heart sound with respiration. Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. ",校对中... +HP:0031663,Paradoxical splitting of the second heart sound ,第二心音的悖论分裂,"Normally, the aortic valve closure (A2) is followed by the pulmonic valve closure (P2) but the A2-P2 interval increases with inspiration and decreases with expiration. With paradoxical splitting, there is a delay in the closure of the aortic valve, so that A2 can follow P2; the individual components can be appreciated at the end of expiration and the interval narrows with inspiration (which is the oposite of the normal pattern). ",校对中... +HP:0031664,Systolic heart murmur ,心脏收缩期杂音,"A heart murmur limited to systole, i.e., between the first and second heart sounds S1 and S2. ",校对中... +HP:0031665,Midsystolic murmur ,心脏收缩中期杂音,"A systolic murmur that begins after S1 and ends before S2, typically with a crescendo-decrescendo pattern. ",校对中... +HP:0031677,Polymorphic ventricular tachycardia ,多形性室性心动过速,"A type of ventricular tachycardia that is characterized by variable QRS complexes within each lead (i.e., QRS complexes may be different from beat to beat). ",校对中... +HP:0031684,Renal artery atherosclerosis ,肾动脉粥样硬化,An atherosclerotic lesion located in the renal artery. ,校对中... +HP:0031687,Abnormally loud pulmonic component of the second heart sound ,第二心音的异常响亮肺闭塞音, , +HP:0031688,Erythroid dysplasia ,红系发育不良,"Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts. ",校对中... +HP:0031689,Megakaryocyte dysplasia ,巨核细胞发育不良,"The presence of micro-megakaryocytes, hypo-lobed, or non-lobed nuclei in megakaryocytes of all sizes and multiple, widely-separated nuclei. ",校对中... +HP:0031690,Opportunistic infection ,机会性感染,"An infection that is caused by a pathogen that would generally not be able to cause an infection in a host with a normal immune system. Such pathogens take advantage of the opportunity, so to speak, that is provided by a weakened immune system. ",校对中... +HP:0031691,Severe viral infection ,重症病毒感染,An unusually severe viral infection. ,校对中... +HP:0031692,Severe cytomegalovirus infection ,重症巨细胞病毒感染,An unusually severe infection by cytomegalovirus. ,校对中... +HP:0031693,Severe Epstein Barr virus infection ,重症EB病毒感染,An unusually severe Epstein Barr virus (EBV) infection. ,校对中... +HP:0031699,Disseminated cryptosporidium infection ,播散性隐孢子虫感染,"Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body. ",校对中... +HP:0031703,Abnormal ear morphology ,耳形态异常,Any structural anomaly of the ear. ,校对中... +HP:0031705,Compensatory head posture ,代偿性头部姿势,A compensatory head posture occurs when the head is deviated out of the normal primary straight head position in order to compensate for an ocular problem. ,校对中... +HP:0031717,Alternating exotropia ,交替性外斜视,A type of exotropia in which either eye may be used for fixation. ,校对中... +HP:0031721,Sensory exotropia ,感觉性外斜视,A type of divergent strabismus (exotropia) that develops in a poorly seeing eye. ,校对中... +HP:0031723,Secondary esotropia ,继发性内斜视,Convergent squint which follows loss or impairment of vision. ,校对中... +HP:0031766,Convergence excess esotropia ,集合过强型内斜视,An intermittent esotropia with binocular single vision present at distance fixation but esotropia on accommodation for near fixation. Usually associated with hypermetropia but patients can be emmetropic and rarely myopic. Associated with a high accommodative convergence/accommodation (AC/A) ratio. ,校对中... +HP:0031790,Mixed astigmatism ,混合散光,A type of astigmatism in which an unequal curvature of the cornea and some cases additionally of the lens causes one meridian of the eye to be hyperopic (farsighted) and a second meridian that is perpendicular to the first to be myopic (nearsighted). ,校对中... +HP:0031792,Irregular astigmatism ,不规则散光,A type of astigmatism in which the principle meridians are not 90 degrees apart and which is associated with loss of vision. ,校对中... +HP:0031793,Increased serum leptin ,血清瘦素增加,An increased concentration of leptin in the blood. ,校对中... +HP:0031796,Recurrent ,复发性,"Applies to a sign, symptom or manifestation that occurs multiple times separated by intervals in which the sign, symptom, or manifestation is not present. ",校对中... +HP:0031798,Elevated circulating apolipoprotein B concentration ,载脂蛋白B水平增高,"Increased circulating level of apolipoprotein B, which is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100. ",校对中... +HP:0031800,Elevated circulating apolipoprotein A-II concentration ,载脂蛋白A-II水平增高,"An increased concentration in blood of apolipoprotein A-II, a major component of HDL particles, associated with triglyceride and glucose metabolism. ",校对中... +HP:0031807,Increased basophil count ,嗜碱性粒细胞计数增高,An abnormally increased count of basophils per volume in the blood circulation. ,校对中... +HP:0031808,Decreased basophil count ,嗜碱性粒细胞计数减低,An abnormally reduced count of basophils per volume in the blood circulation. ,校对中... +HP:0031811,Bilirubinuria ,胆红素尿,Presence of conjugated bilirubin in the urine. ,校对中... +HP:0031813,Colonic eosinophilia ,结肠嗜酸性粒细胞增多,"An excess of eosinophilic cells in colonic tissue, i.e., eosinophilic infiltration in the colon. ",校对中... +HP:0031814,Palilalia ,语言重复症,Repetition of one's own words or phrases. ,校对中... +HP:0031817,Decreased circulating parathyroid hormone level ,甲状旁腺激素水平降低,An abnormally decreased concentration of parathyroid hormone. ,校对中... +HP:0031819,Increased waist to hip ratio ,腰臀比升高,Increased waist-to-hip ratio (WHR) is a measurement above the average for the dimensionless ratio of the circumference of the waist to that of the hips. WHR is calculated as waist measurement divided by hip measurement. ,校对中... +HP:0031825,Freezing of gait ,冻结步态,"Freezing of gait is defined as a brief, episodic absence or marked reduction of forward progression of the feet despite the intention to walk. ",校对中... +HP:0031831,Decreased serum zinc ,血清锌浓度降低,A reduced concentration of zinc in the blood. ,校对中... +HP:0031834,Aortopulmonary collateral arteries ,主肺动脉的侧支动脉,"Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus. ",校对中... +HP:0031842,Lymphangiectasis ,淋巴管扩张,"Dilation of the lymphatic vessels, the basic process that may result in the formation of a lymphangioma. ",校对中... +HP:0031843,Bradyphrenia ,智力迟钝,Abnormal slowness of thought processes. ,校对中... +HP:0031844,Euphoria ,欣快症,A sense of intense joy or happiness that is beyond what would be expected under the given circumstances. ,校对中... +HP:0031845,Abnormal libido ,性欲异常,Any deviation from the normal sexual drive or desire for sexual activity. ,校对中... +HP:0031846,Femur fracture ,股骨骨折,A break or crush injury of the thigh bone (femur). ,校对中... +HP:0031849,Sleep-wake inversion ,睡眠-觉醒节律颠倒,A reversal of sleeping habits with a tendency to sleep during the day and to be awake at night. ,校对中... +HP:0031851,Reduced hematocrit ,红细胞压积减低,A reduction below the normal ratio of the volume of red blood cells to the total volume of blood. ,校对中... +HP:0031853,Isomerism ,异构,"Isomerism in the context of the congenitally malformed heart is defined as a situation where some paired structures on opposite sides of the left-right axis of the body are, in morphologic terms, symmetrical mirror images of each other. ",校对中... +HP:0031854,Left Isomerism ,左向异构,"A type of heterotaxy where some paired structures on opposite sides of the left-right axis of the body are symmetrical mirror images of each other, and have the morphology of the normal left-sided structures. ",校对中... +HP:0031857,Ineffective esophageal peristalsis ,无效食道蠕动,"Reduced or inadequate esophageal peristalsis, with resultant slow passage of contents through the esophagus. ",校对中... +HP:0031860,Abnormal heart rate variability ,心率变异性异常,Any abnormality in the variability of the time interval between successive heartbeats. ,校对中... +HP:0031861,Decreased heart rate variability ,心率变异性降低,Reduced variation of beat-to-beat intervals of the heart that occurs in conjunction with the respiratory cycle. ,校对中... +HP:0031864,Bacteremia ,菌血症,Presence of viable bacteria in the blood. ,校对中... +HP:0031865,Abnormal liver physiology ,肝脏生理异常,Any functional anomaly of the liver. ,校对中... +HP:0031867,Neck hypertonia ,颈部肌张力增高,Increased passive stiffness or tightness of the neck musculature. ,校对中... +HP:0031868,Optic ataxia ,视觉性共济失调,"Difficulty reaching to visually guided goals in peripheral vision, with the deficit leaves voluntary eye movements largely unaffected. ",校对中... +HP:0031869,Recurrent joint dislocation ,复发性关节脱位,Dislocation of a given joint repeated times. ,校对中... +HP:0031873,Early chronotype ,早睡早起,A tendency towards rising very early in the morning and going to bed early in the evening. ,校对中... +HP:0031877,Elevated hepcidin level ,铁调素水平升高,An abnormally increased concentration of hepcidin in the blood circulation. ,校对中... +HP:0031878,Acromicria ,肢端过小症,Small hands and feet in proportion to the rest of the body. ,校对中... +HP:0031882,Agyria ,无脑回畸型,A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm. ,校对中... +HP:0031883,Increased proinsulin:insulin ratio ,胰岛素原,An elevated concentration of proinsulin (the prohormone precursor to insulin) to mature insulin in the circulation. ,校对中... +HP:0031886,Abnormal LDL cholesterol concentration ,低密度脂蛋白胆固醇浓度异常,Any deviation from the normal concentration of low-density lipoprotein cholesterol in the blood circulation. ,校对中... +HP:0031891,Decreased eosinophil count ,嗜酸性粒细胞计数减低,Abnormal reduction in the count of eosinophils in the blood per volume. ,校对中... +HP:0031901,Elevated total serum tryptase ,血清肥大细胞β-类胰蛋白酶浓度升高,An abnormally elevated concentration of total tryptase (alpha and beta tryptase) in the blood circulation. ,校对中... +HP:0031903,Abnormal circulating selenium concentration ,血液硒浓度异常,Any deviation from the normal circulating concentration of selenium. ,校对中... +HP:0031908,Micrographia ,写字过小症,Abnormally small sized handwriting defined formally as an impairment of a fine motor skill manifesting mainly as a progressive or stable reduction in amplitude during a writing task. ,校对中... +HP:0031909,Unicornuate uterus ,单角子宫,"A uterus that has a single horn, with a banana-like shape that may or may not have a secondary rudimentary uterine horn. ",校对中... +HP:0031910,Abnormal cranial nerve physiology ,颅神经生理异常,"A functional abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem. ",校对中... +HP:0031913,Rhombencephalosynapsis ,菱形脑突触,Rhombencephalosynapsis is a rare brain malformation defined by midline fusion of the cerebellar hemispheres with partial or complete loss of the intervening vermis. ,校对中... +HP:0031921,Gastrocnemius myalgia ,腓肠肌肌痛,Pain of the gastrocnemius muscle. ,校对中... +HP:0031923,Hematocolpos ,阴道积血,Accumulation of blood in the vagina usually due to vaginal obstruction. ,校对中... +HP:0031931,Ocular flutter ,眼颤振,"Ocular flutter is an abnormal eye movement consisting of repetitive, irregular, involuntary bursts of horizontal saccades without an intersaccadic interval. It is generally superimposed on normal oculomotor behaviour and its occurrence may be favoured by various events, such as blinks, the triggering of normal saccades or optokinetic stimulation. ",校对中... +HP:0031935,Ascending aorta hypoplasia ,升主动脉发育不良,Significant luminal narrowing of a long segment of or the entire ascending aorta. ,校对中... +HP:0031936,Delayed ability to walk ,学步晚,"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months. ",校对中... +HP:0031937,Tachylalia ,急语症,Extreme rapidity of speech. ,校对中... +HP:0031938,Abnormal conus terminalis morphology ,圆锥体末端形态异常,"Any structural anomaly of the conus terminalis, which is the distal bulbous part of the spinal cord at the location where the spinal cord tapers and ends (usually between the L1 and L2 lumbar vertebrae). ",校对中... +HP:0031939,Conus terminalis arteriovenous malformation ,末端圆锥动静脉畸形, , +HP:0031944,Pleural thickening ,胸膜增厚,"An increase in the thickness of the pleura, generally related to scarring of the pleural tissue. ",校对中... +HP:0031945,"Elevated N,N-dimethylglycine level ","N,N-二甲基甘氨酸水平升高","An increased concentration of N,N-dimethylglycine in the circulation. ",校对中... +HP:0031946,"Elevated urinary N,N-dimethylglycine level ","尿N,N-二甲基甘氨酸水平升高","An increased concentration of N,N-dimethylglycine in the urine. ",校对中... +HP:0031947,Tongue tremor ,舌震颤,"An unintentional, oscillating to-and-fro muscle movement affecting the tongue. ",校对中... +HP:0031950,Usual interstitial pneumonia ,寻常性间质性肺炎,Temporal and spatial heterogeneity in lungs based on presence of fibrosis and honeycombing. ,校对中... +HP:0031951,Nocturnal seizures ,夜间癫痫发作,Seizures that occur while the affected individual is sleeping. ,校对中... +HP:0031954,Dystonic gait ,肌张力障碍性步态,"Dystonic gait disorders frequently appear bizarre, particularly because activity increases dystonic tonus and posture. The abnormal posture of the foot in dystonic gait typically involves inversion, plantar flexion and tonic extension of the big toe. In many patients complex types of walking, such as walking backwards and running are paradoxically less impaired than walking forward and may seem completely unaffected. Sensory tricks, for instance, if the affected individual rests a hand on his or her neck, may improve or even normalize dystonic gait in some patients. ",校对中... +HP:0031955,Antalgic gait ,减痛步态,"To avoid pain weight is put on the affected leg for as short a time as possible, resulting in a limp. The patients appear to be walking as if there were a thorn in the sole of the foot. To reduce the load on the affected leg the patients lift and lower their foot in a fixed ankle position. ",校对中... +HP:0031956,Elevated circulating aspartate aminotransferase concentration ,血清天冬氨酸转氨酶升高,An abnormally high concentration in the circulation of aspartate aminotransferase (AST). ,校对中... +HP:0031958,Spastic paraparetic gait ,痉挛性截瘫步态,"A type of spastic gait in which the legs are usually slightly bent at the hip and in an adducted position. The knees are extended or slightly bent and the feet are in a plantar flexion position. This posture requires circumduction of the legs during walking. The gait may appear stiff (spastic gait disorder) or stiff as well as insecure (spastic ataxic gait disorder). In spastic paraparetic gait, each leg appears to be dragged forward. If the muscle tone in the adductors is marked, the resulting gait disorder is referred to as scissor gait. ",校对中... +HP:0031959,Leg dystonia ,腿肌张力障碍,A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the legs. ,校对中... +HP:0031960,Arm dystonia ,臂肌张力障碍,A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the arms. ,校对中... +HP:0031962,Elevated serum anion gap ,血清阴离子间隙升高,An abnormally high value of the serum anion gap (the sum of serum chloride and bicarbonate concentrations subtracted from the serum sodium concentration). ,校对中... +HP:0031964,Elevated circulating alanine aminotransferase concentration ,血清丙氨酸转氨酶升高,An abnormally high concentration in the circulation of alanine aminotransferase (ALT). ,校对中... +HP:0031965,Increased RBC distribution width ,红细胞分布宽度增加,Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage. ,校对中... +HP:0031972,Presyncope ,晕厥前状态,"Presyncope is a state of lightheadedness, muscular weakness, blurred vision, and feeling faint. Presyncope is most often cardiovascular in cause. ",校对中... +HP:0031979,Abnormal urine carbohydrate level ,尿液碳水化合物水平异常,Any deviation from the normal concentration of a carbohydrate in the urine. ,校对中... +HP:0031982,Abnormal putamen morphology ,壳核形态异常,"Any structural anomaly of the putamen, a brain nucleus which together with the caudate nucleus and fundus striati makes up the striatum. ",校对中... +HP:0031986,Polyminimyoclonus ,多发性微小肌阵挛,"Irregular, small-amplitude myoclonic movements of the hands and/or fingers on keeping outstretched posture (jerky postural tremor). Polyminimyoclonus is stimulus-sensitive and accentuated during voluntary movements. A cortical origin can be demonstrated by back-averaging techniques, and somatosensory evoked potentials (SSEPs) are sometimes giant. ",校对中... +HP:0031987,Diminished ability to concentrate ,注意力下降,Being unable to focus one's attention or mental effort on a particular object or activity. ,校对中... +HP:0031992,Apical hypertrophic cardiomyopathy ,心尖肥厚型心肌病,"Apical hypertrophic cardiomyopathy (AHCM) is diastolic dysfunction due to abnormal stiffness of the left ventricle during diastole, with resultant impaired ventricular filling. In AHCM thickened apical segments produce a crowded, spade-shaped, small apical cavity. ",校对中... +HP:0031993,Hoffmann sign ,Hoffmann征,"A Hoffman test is performed by flicking the fingernail of the long finger, from dorsal to volar, on each hand while the hand was supported by the examiner's hand. The test was done with the neck in the neutral position and then with the neck maximally forward flexed. Any flexion of the ipsilateral thumb and/or index finger was interpreted as a positive test. ",校对中... +HP:0032001,Pink urine ,粉红色尿液,An abnormal pink color of urine. ,校对中... +HP:0032003,Green urine ,绿色尿液,An abnormal green color of urine. ,校对中... +HP:0032005,Hemidystonia ,单侧肌张力障碍,"Hemidystonia refers to dystonia which involves the ipsilateral face, arm, and leg. ",校对中... +HP:0032007,Maceration ,皮肤浸渍,A softening and breaking down of skin resulting from prolonged exposure to moisture. Macerated skin becomes soft and wrinkly and takes on a whitish hue. ,校对中... +HP:0032009,Infantile constant exotropia ,婴儿持续性外斜视,Constant exotropia occurring before 6 months of age.; often associated with a large angle of deviation and ocular/CNS abnormalities. ,校对中... +HP:0032019,Muscle eosinophilia ,（骨骼）肌嗜酸性粒细胞增多症,Eosinophil infiltration of skeletal muscle. ,校对中... +HP:0032021,Eosinophilic liver infiltration ,嗜酸性粒细胞肝脏浸润,Cellular infiltration of the liver parenchyma with a preponderance of eosinophils. ,校对中... +HP:0032024,Ileal ulcer ,回肠溃疡,An erosion of the mucous membrane in a portion of the ileum. ,校对中... +HP:0032027,Retinal dots ,点状视网膜病变,"Yellow, white or greyish lesions in the retina that are well-defined/distinct, individual and mostly uniform in size. ",校对中... +HP:0032037,Mildly reduced visual acuity ,轻度视力降低,Mild reduction of the ability to see defined as visual acuity less than 6/12 (20/40 in US notation; 0.5 in decimal notation) but at least 6/18 (20/63 in US notation; 0.32 in decimal notation). ,校对中... +HP:0032043,Odynophagia ,吞咽疼痛,Pain experienced with swallowing. ,校对中... +HP:0032044,Decreased vigilance ,警觉性降低,A reduction in the ability to maintain sustained attention characterized by reduced alertness. ,校对中... +HP:0032046,Focal cortical dysplasia ,局灶性皮质发育不良,"A type of malformation of cortical development that primarily affects areas of neocortex. It can be identified on conventional magnetic resonance imaging as focal cortical thickening, abnormal gyration, and blurring between gray and white matter, often associated with clusters of heterotopic neurons. ",校对中... +HP:0032047,Focal cortical dysplasia type I ,局灶性皮质发育不良I型,A type of focal cortical dysplasia that is characterized by abnormal cortical layering. ,校对中... +HP:0032051,Focal cortical dysplasia type II ,局灶性皮质发育不良II型,A type of focal cortical dysplasia that is characterized by disrupted cortical lamination and specific cytological abnormalities. ,校对中... +HP:0032052,Focal cortical dysplasia type IIa ,局灶性皮质发育不良IIa型,"A subtype of focal cortical dysplasia type II that is characterized by dysmorphic neurons, which present with a significantly enlarged cell body and nucleus, malorientation, abnormally distributed intracellular Nissl substance and cytoplasmic accumulation of neurofilament proteins. ",校对中... +HP:0032059,Mild malformation of cortical development ,皮质发育轻度畸形,A malformation of cortical development characterized by mild abnormalities of the cortex: excessive heterotopic neurons in Layer 1 or microscopic neuronal clusters or excess of single neurons of normal morphology in deep white matter. ,校对中... +HP:0032061,Hypereosinophilia ,高嗜酸性粒细胞,A severely increased count of eosinophils in the blood defined as a blood eosinophil count of 1.5 × 10e9/L or greater (one and a half billion cells per liter). ,校对中... +HP:0032066,Decreased serum bicarbonate concentration ,血清碳酸氢盐浓度降低,"An abnormal reduction of the concentration of bicarbonate, HCO3[-], in the circulation. ",校对中... +HP:0032069,Anti-thyroglobulin antibody positivity ,抗甲状腺球蛋白抗体阳性,The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. ,校对中... +HP:0032070,Leptomeningeal enhancement ,软脑膜增强,"Contrast material enhancement of the pia mater or enhancement that extends into the subarachnoid spaces of the sulci and cisterns is leptomeningeal enhancement. Leptomeningeal enhancement is usually associated with meningitis, which may be bacterial, viral, or fungal. The primary mechanism of this enhancement is breakdown of the blood-brain barrier without angiogenesis. ",校对中... +HP:0032072,Popliteal synovial cyst ,腘窝滑膜囊肿,"A fluid-filled mass that is a distention of a preexisting bursa in the popliteal fossa, most commonly the gastrocnemio-semimembranosus bursa. This bursa is unique in that it communicates with the knee joint, unlike other periarticular bursae, via an opening in the joint capsule posterior to the medial femoral condyle. ",校对中... +HP:0032075,Splenopancreatic fusion ,脾胰融合,Fusion of the pancreatic tail and spleen. ,校对中... +HP:0032077,Male urethral meatus stenosis ,男性尿道口狭窄,An abnormal narrowing of the urethral opening (meatus) of the penis. ,校对中... +HP:0032092,Left ventricular outflow tract obstruction ,左心室流出道梗阻,"Left ventricular outflow tract (LVOT) obstruction can occur at the valvular, subvalvular, or supravalvular level. In general, there is an obstruction to forward flow which increases afterload, and if untreated, can result in hypertrophy, dilatation, and eventual failure of the left ventricle. ",校对中... +HP:0032094,Increased circulating surfactant protein level ,血液表面活性蛋白水平升高,"An increased concentration of a surfactant protein in the blood circulation. Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions. These two proteins are detectable in the bloodstream and an elevated level may reflect idiopathic pulmonary fibrosis. ",校对中... +HP:0032097,Hypermanganesemia ,高锰血症,An elevation above the normal concentration of manganese in the blood. ,校对中... +HP:0032098,Hypomanganesemia ,低锰血症,A reduction below the normal concentration of manganese in the blood. ,校对中... +HP:0032105,Macrosaccadic oscillations ,大幅度扫视振荡,A type of saccadic oscillations with brief periods of fixation between saccades (intersaccadic interval approximately 200 msec). Macrosaccadic oscillations (up to 40 degrees) straddle the intended fixation position and show a crescendo-decrescendo pattern. ,校对中... +HP:0032106,Conjunctival icterus ,结膜黄疸,Conjunctival icterus is a condition where there is yellowing of the whites of the eyes. This is most commonly seen in patients who have liver disease. ,校对中... +HP:0032107,Limbal stem cell deficiency ,角膜缘干细胞缺乏症,A condition characterized by a loss or deficiency of the stem cells in the limbus that are vital for re-population of the corneal epithelium and to the barrier function of the limbus. ,校对中... +HP:0032118,Retinitis ,视网膜炎,Inflammation of the retina of the eye. ,校对中... +HP:0032121,Froment sign ,Froment征,An abnormal result of a physical examination of the the hand that tests for palsy of the ulnar nerve. This nerve innervates the adductor pollicis and interossei muscles and thereby enables adduction of the thumb and extension of the interphalangeal joint. An abnormal result consists in reduced functionality and muscular weakness in the pinch grip between the thumb and index finger of the affected hand as the patient attempts to pinch a piece of paper that the examiner tries to pull away. The flexor pollicis longus muscle tries to compensate for the weakness by flexing the tip of the thumb at the interphalangeal joint. ,校对中... +HP:0032122,Very low visual acuity ,视力极低,A reduction in visual acuity with best corrected visual acuity between 1.40 (20/500) and 1.89 logMAR (up to roughly 20/1590). ,校对中... +HP:0032132,Decreased circulating total IgG ,血液总IgG降低,A reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. ,校对中... +HP:0032134,Chronic decreased circulating total IgG ,慢性血液总IgG降低,A lasting reduction beneath the normal level of total immunoglobulin G (IgG) in the blood. ,校对中... +HP:0032139,Reduced isohemagglutinin level ,同种红细胞凝集素水平降低,"Level of isohemagglutinin reduced below expected concentration. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). ",校对中... +HP:0032140,Decreased specific antibody response to vaccination ,疫苗应答特异性抗体降低,"A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. ",校对中... +HP:0032141,Precordial pain ,心前区疼痛,"A type of chest pain that arises in the or under the left breast and often described as throbbing, stabbing, or burning, and lasting hours or longer. The pain may arise with or after effort, and may spread to the left arm or left side of the neck. ",校对中... +HP:0032147,Erythromelalgia ,红斑性肢痛症,"Recurrent episodes of redness, burning pain, and warmth of the extremities following exposure to heat or exercise with symptoms predominantly involving the feet. ",校对中... +HP:0032148,Episodic pain ,阵发性疼痛,"Intermittent pain, i.e., pain that occurs occasionally and at irregular intervals. ",校对中... +HP:0032152,Keratosis pilaris ,毛囊角化症,"An anomaly of the hair follicles of the skin that typically presents as small, rough, brown folliculocentric papules distributed over characteristic areas of the skin, particularly the outer-upper arms and thighs. ",校对中... +HP:0032153,Joint subluxation ,关节半脱位,A partial dislocation of a joint. ,校对中... +HP:0032154,Aphthous ulcer ,口疮性溃疡,"Oral aphthous ulcers typically present as painful, sharply circumscribed fibrin-covered mucosal defects with a hyperemic border. ",校对中... +HP:0032155,Abdominal cramps ,腹部绞痛,A type of abdominal pain characterized by a feeling of contractions and typically fluctuating in intensity. ,校对中... +HP:0032156,Skin detachment ,皮肤脱落,Loss of sections of skin either spontaneously or after gentle handling. ,校对中... +HP:0032160,Cryptococcal meningitis ,隐球菌性脑膜炎,A type of fungal meningitis caused by an encapsulated yeast that belongs to the genus Cryptococcus. Cryptococcus neoformans and Cryptococcus gattii are responsible for the majority of cases of human cryptococcosis. ,校对中... +HP:0032163,Molluscum contagiosum ,接触传染性软疣,"Molluscum contagiosum is a cutaneous viral infection that is commonly observed in both healthy and immunocompromised children. The infection is caused by a member of the Poxviridae family, the molluscum contagiosum virus. Molluscum contagiosum presents as single or multiple small white or flesh-colored papules that typically have a central umbilication. The central umbilication may be difficult to observe in young children and, instead, may bear an appearance similar to an acneiform eruption. The lesions vary in size (from 1 mm to 1 cm in diameter) and are painless, although a subset of patients report pruritus in the area of infection. On average, 11-20 papules appear on the body during the course of infection and generally remains a self-limiting disease. However, in immunosuppressed patients, molluscum contagiosum can be a severe infection with hundreds of lesions developing on the body. Extensive eruption is indicative of an advanced immunodeficiency state. ",校对中... +HP:0032164,Increased blood folate concentration ,血液叶酸浓度增高,"An elevated circulating concentration of folic acid, which is also known as vitamin B9. ",校对中... +HP:0032165,Placental mesenchymal dysplasia ,胎盘间质发育不良,"Placental mesenchymal dysplasia is an abnormality of the stem villi of the placenta that may be mistaken for a hydatidiform mole, and in particular, partial mole, owing to the mixture of cysts and normal-appearing parenchyma. The stem (anchoring) villi form as outgrowths of the chorionic plate early in placentogenesis and give rise to the branching villous trees. ",校对中... +HP:0032166,Unusual gastrointestinal infection ,非寻常胃肠道感染, , +HP:0032169,Severe infection ,重度感染,A type of infection that is regarded as a sign of a pathological susceptibility to infection because of unusual severity or intensity of the infection. ,校对中... +HP:0032170,Severe varicella zoster infection ,重度水痘带状疱疹感染,"An unusually severe form of varicella zoster virus (VZV) infection. In the majority of the cases, especially in children, varicella is a very mild infection characterised by skin lesions, low grade fever and malaise. Severe infection is characterized by manifestions including VZV pneumonia, hepatitis, meningitis, and disseminated varicella. ",校对中... +HP:0032177,Parenchymal consolidation ,肺实变,"Consolidation refers to an exudate or other product of disease that replaces alveolar air, rendering the lung solid (as in infective pneumonia). ",校对中... +HP:0032184,Increased proportion of memory T cells ,记忆性T细胞比例增高,An abnormally elevated proportion of memory T cells compared to the total number of T cells in the blood. ,校对中... +HP:0032185,Disseminated molluscum contagiosum ,播散性传染性软疣,The presense of molluscum contagiosum lesions across multiple areas of the body. ,校对中... +HP:0032192,Hydatidiform mole ,葡萄胎,"Hydatidiform mole (HM) is an aberrant human pregnancy with absence of, or abnormal embryonic development, hydropic degeneration of chorionic villi, and excessive proliferation of the trophoblast. ",校对中... +HP:0032198,Decreased prothrombin time ,凝血酶原时间减少,"Abnormally short time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. ",校对中... +HP:0032204,Chronic active Epstein-Barr virus infection ,慢性活动性EB病毒感染,"Chronic active Epstein-Barr virus (EBV) infection is an uncommon outcome of EBV infection and may present as a waxing and waning or fulminant syndrome. Unlike acute infectious mononucleosis, wherein EBV establishes lifelong infection and survives by maintaining a delicate balance with the host as a latent infection, in chronic active EBV infection the host-virus balance is disturbed. ",校对中... +HP:0032208,Increased urinary type 1 collagen N-terminal telopeptide level ,尿1型胶原蛋白N端端肽水平升高,"An increased concentration of type 1 collagen N-terminal telopeptide (NTx) level in the urine. Generally the test is performed over a period of time, for instance, 10 cc of morning urine can be collected following 12 hours overnight fasting or for 24 hours. ",校对中... +HP:0032210,Decreased circulating free T3 ,循环游离T3浓度降低,"A reduced concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. ",校对中... +HP:0032215,Disseminated cutaneous warts ,弥漫性皮肤疣,"Multiple skin warts located in multiple parts of the body, e.g., neck, trunks, and extremities. ",校对中... +HP:0032216,Lymphocytic infiltration of the colorectal mucosa ,结直肠粘膜淋巴细胞浸润,Abnormally increased intraepithelial lymphocyte count. This finding may be appreciated as large numbers of surface intraepithelial lymphocytes as seen (for instance) with hematoxylin and eosin staining of a colonic biopsy sample taken during colonoscopy. ,校对中... +HP:0032218,Decreased proportion of CD4-positive T cells ,CD4+T细胞比例减低,A reduction in the proportion of CD4-positive T cells relative to the total number of T cells. ,校对中... +HP:0032219,Increased proportion of CD4-positive T cells ,CD4+T细胞比例增高,An elevation in the proportion of CD4-positive T cells relative to the total number of T cells. ,校对中... +HP:0032220,Interface hepatitis ,界面性肝炎,Inflammation of the liver characterized by a mononuclear cell infiltrate whereby portal inflammatory cells extend through the limiting plate between the portal tract and liver parenchyma. ,校对中... +HP:0032222,Serrated intestinal polyps ,锯齿状肠息肉,"The presence of multiple serrated polyps in the intestine. Unlike conventional adenomas, which are uniformly dysplastic, the vast majority of serrated lesions contain no dysplasia. The serrated class includes the hyperplastic polyps, which are not considered precancerous; sessile serrated polyps (also called sessile serrated adenomas); and traditional serrated adenomas. Sessile serrated polyps are larger on average and more often located in the proximal colon. Sessile serrated polyps have a more irregular surface, a pattern to the surface that has been called cloudlike, and indistinct edges compared with hyperplastic polyps. Sessile serrated polyps also have large open pits on the surface (type O pits) when viewed with magnification. ",校对中... +HP:0032227,Sebaceous hyperplasia ,皮脂腺增生,"A common, benign skin condition involving hypertrophy of the sebaceous glands characterized by single or multiple lesions that manifest as yellow, soft, small papules with umbilication. The lesions are located commonly on the central face (specifically, the nose, cheeks and forehead) but may also occur elswehere, including the chest, mouth, scrotum, foreskin, penile shaft, vulva, and areola. ",校对中... +HP:0032228,Trichodiscoma ,毛盘瘤,"A small benign fibrovascular tumor of the dermal part of the hair disk. Trichodiscoma is rather simple in appearance and consists of a dome-shaped fibrous tumor with a prominent vascular component that fills the papillary dermis under an atrophic epidermis. As in a normal hair disk, a hair follicle may be present at one edge of the papular lesion. ",校对中... +HP:0032229,Perinuclear antineutrophil antibody positivity ,核周抗中性粒细胞抗体阳性,The presence of autoantibodies in the serum that react against proteins predominantly expressed in perinuclear region of neutrophils. ,校对中... +HP:0032230,Cytoplasmic antineutrophil antibody positivity ,细胞质抗中性粒细胞抗体阳性,The presence of autoantibodies in the serum that react against proteins predominantly expressed in cytoplasmic granules of neutrophils. ,校对中... +HP:0032231,Hypochromia ,低色素（红细胞）,"A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells. ",校对中... +HP:0032244,Decreased serum thromboxane B2 ,血清血栓素B2降低,A reduction in the concentration of thromboxane B2 in the blood circulation. ,校对中... +HP:0032247,Persistent CMV viremia ,迁延性巨细胞病毒血症,Lasting (uncontrolled) presence of cytomegalovirus in the blood circulation. ,校对中... +HP:0032248,Persistent viremia ,迁延性病毒血症,Persistence of virus in the blood circulation longer than would be normal in an immunocompentent host. ,校对中... +HP:0032249,Coccidioidomycosis ,球孢子菌病,"Infection by a Coccidioides species fungus. These are dimorphic, soil-dwelling, fungi known to cause a broad spectrum of disease, ranging from a mild febrile illness to severe pulmonary manifestations or disseminated disease. The genus Coccidioides is comprised of two genetically distinct species: Coccidioides immitis and C. posadasii. ",校对中... +HP:0032252,Granuloma ,肉芽肿,"A compact, organized collection of mature mononuclear phagocytes, which may be but is not necessarily accompanied by accessory features such as necrosis. ",校对中... +HP:0032256,Histoplasmosis ,组织胞浆菌病,Histoplasmosis is caused by the fungus Histoplasma capsulatum and is consider to be an opportunistic infection in immunosuppressed persons. ,校对中... +HP:0032259,Chronic tinea infection ,慢性癣感染,"The term tinea means fungal infection, whereas dermatophyte refers to the fungal organisms that cause tinea. This term refers to a tinea infection that is chronic or recalcitrant to treatment and may be reflective of an immune defect. ",校对中... +HP:0032261,Nontuberculous mycobacterial pulmonary infection ,非结核分枝杆菌肺部感染,An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. ,校对中... +HP:0032262,Pulmonary tuberculosis ,肺结核,"A lung infection by Mycobacterium tuberculosis a slightly curved non-motile, aerobic, non-capsulated and non-spore forming strains of mycobacteria. ",校对中... +HP:0032263,Increased blood pressure ,血压升高,"Abnormal increase in blood pressure. An individual measurement of increased blood pressure does not necessarily imply hypertension. In practical terms, multiple measurements are recommended to diagnose the presence of hypertension. ",校对中... +HP:0032271,Extrapulmonary tuberculosis ,肺外结核,"A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. ",校对中... +HP:0032272,Elevated urinary N-acetylaspartic acid level ,尿N-乙酰天门冬氨酸水平升高,Elevated N-acetylaspartic acid (NAA) in urine. This feature can be measured using gas chromatography-mass spectrometry. ,校对中... +HP:0032273,Increased circulating N-Acetylaspartic acid concentration ,血N-乙酰基天冬氨酸浓度升高,An abnormally increased concentration of N-Acetylaspartic acid in the blood circulation. ,校对中... +HP:0032274,Increased CSF N-Acetylaspartic acid concentration ,脑脊液N-乙酰基天冬氨酸浓度升高,An abnormally increased concentration of N-Acetylaspartic acid in the cerebrospinal fluid (CSF). ,校对中... +HP:0032275,Recurrent shingles ,复发性带状疱疹,"Repeated episodes of a localized, painful cutaneous eruption related to reactivation of varicella zoster virus (VZV) and characterized by a characteristic rash in one or two adjacent dermatomes. ",校对中... +HP:0032276,Prominent subcalcaneal fat pad ,跟骨下脂肪垫突出,Abnormally increased prominence of the fat pad underneath the heal. This feature can be appreciated in figure 1 of PMID:26769062. ,校对中... +HP:0032277,Lozenge-shaped umbilicus ,菱形脐, , +HP:0032283,Disseminated nontuberculous mycobacterial infection ,播散性非结核分枝杆菌感染,An infection with nontuberculous mycobacteria that affects multiple body sites. Such infections can occur in individuals with immune disease. ,校对中... +HP:0032284,Ultra-low vision with retained motion projection ,保留运动辨识的极低视力,Ultra-low vision but with retained ability to identify a moving object (typically hand motion at distance of 30 cm). ,校对中... +HP:0032286,Ultra-low vision with retained light perception ,保留光感的极低视力,Ultra-low vision but with retained ability to perceive the difference between light and dark. ,校对中... +HP:0032287,Ultra-low vision with no light perception ,无光感的极低视力,Ultra-low vision with complete lack of light and form perception. ,校对中... +HP:0032308,Increased circulating procalcitonin concentration ,血液降钙素原水平升高,An elevated concentration of procalcitonin in the blood circulation. ,校对中... +HP:0032313,Frontotemporal hypertrichosis ,额颞叶多毛症,"Excessive, increased hair growth located in the region of the forehead and temple. ",校对中... +HP:0032315,Areolar fullness ,乳晕饱满,The areola (ring of pigmented skin surrounding the nipple) is filled out so as to produce a rounded shape. ,校对中... +HP:0032323,Periodic fever ,周期性发热,Episodic fever that recurs at regular intervals. ,校对中... +HP:0032324,Non-periodic recurrent fever ,非周期性反复发热,Episodic fever that recurs at irregular intervals. ,校对中... +HP:0032325,Lacunar stroke ,腔隙性中风,"A stroke related to a small infarct (2-20 mm in diameter) in the deep cerebral white matter, basal ganglia, or pons, that is presumed to result from the occlusion of a single small perforating artery supplying the subcortical areas of the brain. ",校对中... +HP:0032327,Interhemispheric cyst ,半球间囊肿,"Cystic collection (sac-like, fluid containing pocket of membranous tissue) located in the interhemispheric fissure, with or without communication with the ventricular system. ",校对中... +HP:0032330,Increased urinary 11-deoxycorticosterone level ,尿11-脱氧皮质酮水平升高,An abnormally elevated concentration or amount of 11-deoxycorticosterone in the urine. ,校对中... +HP:0032341,Reduced forced vital capacity ,用力肺活量降低,An abnormal reduction in the amount of air a person can expel following maximal inspiration. ,校对中... +HP:0032342,Reduced forced expiratory volume in one second ,每秒用力呼气量减少,An abnormal reduction in the amount of air a person can forcefully expel in one second. ,校对中... +HP:0032344,Upslanting toenail ,脚趾甲反甲,Upturned concavity of toenails. ,校对中... +HP:0032346,Cutaneous lichen amyloidosis ,皮肤地衣淀粉样变性,"Lichen amyloidosis presents with multiple localized or rarely generalized, hyperpigmented grouped papules with a predilection for the shins, calves, ankles, and dorsa of the feet and thighs. ",校对中... +HP:0032347,Cutaneous macular amyloidosis ,皮肤黄斑淀粉样变性,"A type of cutaneous amyloidosis that is characterized by hyperpigmented patches with indefinite margins composed of grayish brown macules, often with a reticulated or rippled appearance. Lesions may present as a hyperpigmented patch composed of small brown macules in a rippled or reticulated pattern. ",校对中... +HP:0032350,Sulfocysteinuria ,磺基半胱氨酸尿症,A increased concentration of sulfocysteine in the urine. ,校对中... +HP:0032352,Methioninuria ,蛋氨酸尿症,Increased level of methionine in urine. ,校对中... +HP:0032359,Decreased forced expiratory flow 25-75% ,用力呼气流量减少25-75％,A reduction compared to the predicted value of the forced expiratory flow over the middle one-half of the FVC; the average flow from the point at which 25% of the FVC has been exhaled to the point at which 75% of the FVC has been exhaled. ,校对中... +HP:0032362,Increased circulating corticosterone level ,血液皮质酮水平升高,An abnormally elevated concentration of corticosterone in the blood. ,校对中... +HP:0032366,Positive direct antiglobulin test ,直接抗球蛋白试验阳性,"A positive result of the direct antiglobulin test (DAT), a method of demonstrating the presence of antibody or complement bound to red blood cell (RBC) membranes by the use of anti-human globulin to form a visible agglutination reaction. ",校对中... +HP:0032382,Uniparental disomy ,单亲二体,Inheritance of both homologues of a chromosome pair from the same parent. ,校对中... +HP:0032386,Elevated circulating transferrin concentration ,转铁蛋白水平升高,An abnormally increased concentration of transferrin in the blood circulation. ,校对中... +HP:0032388,Periventricular nodular heterotopia ,脑室周围结节性异位症,"Nodules of heterotopia along the ventricular walls. There can be a single nodule or a large number of nodules, they can exist on either or both sides of the brain at any point along the higher ventricle margins, they can be small or large, single or multiple. ",校对中... +HP:0032390,Periventricular ribbonlike heterotopia ,脑室周围带状异位症,Heterotopia that forms a continuous wavy line along the ventricular wall. ,校对中... +HP:0032391,Subcortical heterotopia ,皮层下异位症,A form of heterotopia were the mislocalized gray matter is located deep within the white matter. ,校对中... +HP:0032397,Citrullinuria ,瓜氨酸尿症,An increased concentration of citrulline in the urine. ,校对中... +HP:0032398,Dysgyria ,脑回形态异常,An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation. ,校对中... +HP:0032401,Aspartic aciduria ,天门冬氨酸尿症,A increased concentration of aspartic acid in the urine. ,校对中... +HP:0032407,Bilateral perisylvian polymicrogyria ,双侧脑外侧裂多微小脑回,A type of perisylvian polymicrogyria that affects both sides of the brain. ,校对中... +HP:0032408,Breast mass ,乳腺肿块,"A breast lump is any discrete mass in a breast noticed by the patient, significant other, or physician. ",校对中... +HP:0032409,Subcortical band heterotopia ,皮层下带异位症,A form of subcortical heterotopia with mislocalized gray matter within the white matter.It is defined as longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter. It is part of the lissencephaly spectrum. ,校对中... +HP:0032410,Bilateral generalized polymicrogyria ,双侧全脑多微小脑回,Symmetric generalized polymicrogyria with no obvious gradient or region of maximal severity; may have abnormal high signal in white matter. ,校对中... +HP:0032411,Posterior predominant subcortical band heterotopia ,后部为主的皮层下带异位症,Longitudinal bands of gray matter located deep to the cerebral cortex and separated from it by a thin layer of normal appearing white matter visible along the occipital cortex. ,校对中... +HP:0032417,Periglomerular fibrosis ,肾小球周围纤维化,Circumferential fibrosis in the interstitium surrounding Bowman's capsule ,校对中... +HP:0032434,Delayed umbilical cord separation ,脐带延迟分离,Separation of the umbilical cord occurs at an abnormally late timepoint. ,校对中... +HP:0032435,Neonatal omphalitis ,新生儿脐炎,An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period. ,校对中... +HP:0032437,Reduced C-reactive protein level ,C反应蛋白水平降低,An abnormal decrease of the C-reactive protein level in serum. ,校对中... +HP:0032438,Platelet anisocytosis ,血小板大小异常不均,Abnormally increased variability in the size of platelets. ,校对中... +HP:0032446,Pulmonary bulla ,肺大疱,"Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema. ",校对中... +HP:0032447,Pulmonary bleb ,肺气泡,"A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura. ",校对中... +HP:0032448,Achlorhydria ,胃酸缺乏症,A condition in which production of hydrochloric acid in the stomach is absent. ,校对中... +HP:0032449,Abnormal dermoepidermal hemidesmosome morphology ,真皮表皮半桥粒形态异常,"An abnormal structure or appearance of hemidesmosomes, multiprotein complexes that facilitate the stable adhesion of basal epithelial cells to the underlying basement membrane. ",校对中... +HP:0032451,Oral melanotic macule ,口腔黑斑,"Flat, distinct, discolored area of oral mucosal membrane less than 1 cm wide not associated with a change in the thickness or texture of the affected mucosal membrane. The lesions are small, solitary, well-circumscribed and often uniformly pigmented. ",校对中... +HP:0032454,Labial melanotic macule ,唇部黑痣,"Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture. ",校对中... +HP:0032458,Narrowing of medullary canal ,髓管狭窄,A reduction in diameter and volume of the central cavity of bone where red or yellow bone marrow is located. ,校对中... +HP:0032460,Decreased phosphoribosylpyrophosphate synthetase level ,磷酸核糖焦磷酸合成酶水平降低,"Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate. ",校对中... +HP:0032464,Ureteral hypoplasia ,输尿管发育不良,Underdevelopment of the ureter. ,校对中... +HP:0032465,Bladder trabeculation ,膀胱小梁形成,"Muscular projections that protrude into the lumen of the bladder, criss-crossing the walls of the bladder on its inner surface. ",校对中... +HP:0032466,Aplasia of the olfactory bulb ,嗅球不发育,Lack of formation (congenital absence) of the olfactory bulb. ,校对中... +HP:0032471,Focal polymicrogyria ,局灶性多微小脑回,Polymicrogyria affecting one or multiple small areas of the cerebral cortex. ,校对中... +HP:0032479,Preimplantation lethality ,胚胎植入前致死率,"It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development. ",校对中... +HP:0032484,Elevated fecal sodium ,粪便钠升高,An elevated concentration of sodium in feces. ,校对中... +HP:0032486,Elevated fecal osmolality ,粪便渗透压升高,Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram. ,校对中... +HP:0032497,Reduced terminal:vellus ratio ,终毛毫毛比降低,A terminal:vellus ratio under 4:1 is characteristic of androgenetic alopecia. ,校对中... +HP:0032499,Giant neutrophil granules ,巨嗜中性粒细胞颗粒,"The presence of abnormally large granules in neutrophils. This finding can be appreciated on a peripheral blood smear. The finding is characteristic of Chediak Higashi syndrome. The giant granules are derived from azurophil granules, whereas peroxidase-negative granules are not involved in their formation. ",校对中... +HP:0032506,Alien limb phenomenon ,异己肢体现象,Alien limb phenomenon refers to involuntary motor activity of a limb in conjunction with the feeling of estrangement from that limb. ,校对中... +HP:0032508,Polyembolokoilamania ,异物插孔癖,Habitual insertion of foreign bodies into bodily orifices. ,校对中... +HP:0032509,Onychotillomania ,抠甲癖,"Onychotillomania is characterized by the compulsive or irresistible urge in patients to pick at, pull off, or harmfully bite or chew their nails. ",校对中... +HP:0032510,Tendon pain ,肌腱疼痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to a tendon. ",校对中... +HP:0032514,Duplicated lacrimal punctum ,泪点重复,A congenital developmental anomaly characterized by the presence of two (instead of the normal one) lacrimal punctum on one or both sides of the face. ,校对中... +HP:0032515,Deep dermatophytosis ,深层皮肤癣菌病,A type of invasive dermatophyte infection of the deep dermis characterized by extensive dermal infiltration by fungal elements. ,校对中... +HP:0032521,Self hugging ,抽搐样不自主自我拥抱,"Involuntary, tic-like movements consisted of crossing both arms across the chest and tensing the body or clasping the hands and squeezing the arms to the sides. The movements last a few seconds and may occur in series or flurries, generally accompanied by facial grimacing and occasional grunting. ",校对中... +HP:0032523,Tendon thickening ,肌腱增厚,An abnormal increase in the thickness (diameter) of a tendon. ,校对中... +HP:0032524,Long thumb ,长拇指,Length of the thumb is greater than normal. ,校对中... +HP:0032527,Inferiorly positioned umbilicus ,低位脐,The position of the umbilicus (belly button) is abnormally low (inferior). ,校对中... +HP:0032528,Elevated urinary 4-hydroxybutyric acid ,尿4-羟基丁酸升高,An increased amount of 4-hydroxybutyric acid in the urine. ,校对中... +HP:0032530,Decreased succinic semialdehyde dehydrogenase level ,琥珀酸半醛脱氢酶水平降低,Reduced level of succinic semialdehyde dehydrogenase (SSADH). ,校对中... +HP:0032531,Elevated CSF gamma-aminobutyric acid concentration ,脑脊液γ-氨基丁酸浓度升高, , +HP:0032532,Elevated CSF 4-hydroxybutyric acid concentration ,脑脊液4-羟基丁酸浓度升高,Abnormally increased level of 4-hydroxybutyric acid in the cerebrospinal fluid (CSF). ,校对中... +HP:0032538,Pretibial dimple ,胫前凹陷,"A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lenghten as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg. ",校对中... +HP:0032541,Knuckle pad ,手指关节垫,Knuckle pads are benign fibrofatty subcutaneous pads located over the proximal interphalangeal (PIP) joints that can be mistaken for arthritis. Rarely they affect the dorsal aspect of the metacarpophalangeal (MCP) joints. Clinically they are painless and often affect both hands in an asymmetrical pattern. ,校对中... +HP:0032542,Exacerbated by pregnancy ,孕期加重,Applied to a sign or symptom that is worsened by being pregnant. ,校对中... +HP:0032543,Lithoptysis ,支气管结石,Expectoration (coughing up) of a broncholith. Broncholithiasis is defined as the presence of calculi in the tracheobronchial tree. It is a rare disease but can be characterized by clinical and radiological findings of a calcified lymph node eroding bronchial wall and opening into the bronchial lumen. ,校对中... +HP:0032545,Abdominal rigidity ,腹部强直,Involuntary tightening of the abdominal musculature that occurs in response to touching the abdomen to avoid pain. Rigidity can occur in the presence of abdominal inflammation and usually involves only the inflamed area. ,校对中... +HP:0032547,Low intraocular pressure ,低眼压,An abnormal decrease of the pressure within the eye. ,校对中... +HP:0032548,Increased placental thickness ,胎盘增厚,Abnormally elevated placental thickness. ,校对中... +HP:0032550,Howell-Jolly bodies ,Howell-Jolly小体,"Howell-Jolly bodies are small, intra-erythrocytic remnants of erythrocyte nuclei. These inclusions are solitary in each erythrocyte and strongly basophilic. These are often confused with overlying platelets, but can be distinguished by the presence of a halo around overlying platelets. ",校对中... +HP:0032553,Weak pulse ,脉弱,A diminution in the amplitude (strength) of the pulse such that the examiner has difficulty feeling the pulse. ,校对中... +HP:0032555,Bounding pulse ,洪脉,Increased amplitude (strength) of the pulse. ,校对中... +HP:0032556,Circumoral cyanosis ,唇周青紫,Persistent blue color of the skin that surrounds the mouth. ,校对中... +HP:0032558,Absent sperm flagella ,精子鞭毛缺失,Sperm cells lacking flagella. ,校对中... +HP:0032559,Short sperm flagella ,精子鞭毛短,Sperm cells with abnormally short flagella. ,校对中... +HP:0032560,Coiled sperm flagella ,精子鞭毛卷曲,Sperm cells whose flagella are twisted (coiled). ,校对中... +HP:0032561,Microcephalic sperm head ,小头精子,Decreased size of the head of sperm. ,校对中... +HP:0032562,Tapered sperm head ,锥形精子头,Sperm with cigar-shaped heads that gradually dimish in diameter (taper). ,校对中... +HP:0032564,Ileitis ,回肠炎,Inflammation of the ileum. ,校对中... +HP:0032565,Vaginal mucosal ulceration ,阴道粘膜溃疡, , +HP:0032566,Oval macrocytosis ,椭圆巨红细胞症,"Enlarged, oval-shaped erythrocytes (red blood cells). ",校对中... +HP:0032567,Lipiduria ,脂尿症,An increased lipid content in the urine. ,校对中... +HP:0032568,Urinary mulberry cells ,尿桑葚样细胞,Distal tubular epithelial cells in which globotriaosylceramide (Gb3) has accumulated. they are the characteristic feature of Fabry disease. Urinary mulberry bodies are a component of mulberry cells that can be distinguished easily from fat particles by their inner lamellar appearance. ,校对中... +HP:0032569,Temporal bossing ,颞部肿块, , +HP:0032571,Increased oocyte death ,卵细胞死亡增加,"An increase in death of oocytes, the female germ cell (egg cell), which can be observed clinically in the setting of in vitro fertilization. ",校对中... +HP:0032575,Decreased circulating 12-HETE ,血液循环中12-HETE（花生四烯酸的代谢产物）减少,"A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. ",校对中... +HP:0032581,Abnormal renal insterstitial morphology ,肾间质形态异常,"Any structural anomaly of the interstitium of the kidney. The renal interstitium is defined as the intertubular, extraglomerular, extravascular space of the kidney. It is bounded on all sides by tubular and vascular basement membranes and is filled with cells, extracellular matrix, and interstitial fluid. ",校对中... +HP:0032588,Hand apraxia ,手失用症,"Inability to perform purposeful (learned) movements with the hand upon command, even though the command is understood and there is a willingness to perform the movement. Hand apraxia includes the inability to grasp, pick up, and hold large and small objects. ",校对中... +HP:0032592,Aplasia of the right hemidiaphragm ,右侧膈肌未发育,Congenital absence of the right-sided diaphragm. ,校对中... +HP:0032612,Triphalangeal hallux ,三趾节拇趾,"A hallux (big toe) with three phalanges in a single, proximo-distal axis. ",校对中... +HP:0032615,Abnormal diffusion weighted cerebral MRI morphology ,脑磁共振弥散加权成像异常形态,"A diffusion abnormality observed in diffusion-weighted magnetic resonance imaging (MRI) of the brain. Molecular diffusion refers to the notion that any type of molecule in a fluid (eg, water) is randomly displaced as the molecule is agitated by thermal energy. Restricted diffusion of water appears bright on diffusion-weighted images. ",校对中... +HP:0032622,Tubular luminal dilatation ,肾小管腔扩张,"Dilatation (expansion beyond the normal dimension) of the cavity (lumen) of tubules of the kidney. The tubular cross section displays an attenuated brush border (apical PAS positivity greater than 10 percent of the normal expected height, but unequivocally less than normal expected height), resulting in an apparent increase in the size of lumen. ",校对中... +HP:0032638,Elevated urine mevalonic acid ,尿中甲羟戊酸升高,An abnormally increased amount of mevanolate in the urine. Mevanolate is that hydroxy monocarboxylic acid anion that is the conjugate base of mevalonic acid. ,校对中... +HP:0032639,Elevated leukocyte cystine ,白细胞胱氨酸升高,An increased concentration of cystine within white blood cells. ,校对中... +HP:0032649,Skewfoot ,跖内收合并后足外翻畸形（又叫Z形足）,"A type of flat-foot characterized by hindfoot abductovalgus, metatarsus adductus, and Achilles tendon shortening. The predominant radiographic findings include forefoot adduction with lateral subluxation of the navicular on the talus and heel valgus. Very abnormal shoe wear is noted on the medial side. Calluses occurunder the metatarsal heads and thehead of the plantar-flexed talus. ",校对中... +HP:0032653,Elevated lactate:pyruvate ratio ,乳酸/丙酮酸比例升高,An abnormal increase in the molar ratio of lactate to pyruvate in the blood circulation. ,校对中... +HP:0032660,Convulsive status epilepticus ,惊厥性癫痫持续状态,"A type of status epilepticus characterized by a prolonged bilateral tonic-clonic seizure, or repeated bilateral tonic-clonic seizures without recovery between.comment: source: seeAlso: Tonic-clonic status epilepticus ",校对中... +HP:0032663,Focal motor status epilepticus ,局灶性运动癫痫持续状态,Status epilepticus with focal motor signs originating within networks limited to one hemisphere. Involves musculature in any form. The motor event could consist of an increase (positive) or decrease (negative) in muscle contraction to produce a movement. ,校对中... +HP:0032667,Myoclonic status epilepticus ,肌阵挛癫痫持续状态,A type of motor status epilepticus with repeating bilateral sudden brief (less than 100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography. ,校对中... +HP:0032671,Non-convulsive status epilepticus without coma ,不伴意识障碍的非惊厥性癫痫持续状态,A type of status epilepticus without prominent motor symptoms in the absence of coma. ,校对中... +HP:0032676,Chronic cutaneous wound ,慢性皮损,"A cutaneous wound that has failed to proceed through the orderly and timely process to produce an atomic and functional integrity, or proceeded through the repair process without establishing a sustained anatomic and functional result. ",校对中... +HP:0032705,Focal aware cognitive seizure with forced thinking ,伴强迫思维的意识保留的局灶性知觉发作,A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure. ,校对中... +HP:0032759,Focal sensory seizure with vestibular features ,伴眩晕特征的局灶性感觉发作,"A seizure characterized by symptoms of dizziness, spinning, vertigo or sense of rotation as its first clinical manifestation. ",校对中... +HP:0032773,Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole ,伴心悸/心动过速/心动过缓/心搏停止的局灶性植物神经发作,A type of focal autonomic seizure characterized by changes in heart rate as the initial semiological feature. ,校对中... +HP:0032785,Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena ,伴上腹部感觉异常/恶心/呕吐/其他的意识保留的局灶性植物神经发作,A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure. ,校对中... +HP:0032786,Migrating focal seizure ,游走性局灶发作,"A migrating focal seizure is a seizure that involves different body parts, usually without overlap, in a consecutive manner so that the offset of a seizure in one part coincides with its onset in another, even shifting multiple times between the sides of the body. They can be associated with autonomic manifestations. ",校对中... +HP:0032792,Tonic seizure ,强直发作,"A tonic seizure is a type of motor seizure characterised by unilateral or bilateral limb stiffening or elevation, often with neck stiffening. ",校对中... +HP:0032794,Myoclonic seizure ,肌阵挛发作,"A myoclonic seizure is a type of motor seizure characterised by sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus. ",校对中... +HP:0032807,Neonatal seizure ,新生儿癫痫发作,A seizure occurring within the neonatal period (28 days beyond the full term date). ,校对中... +HP:0032810,Focal sensory seizure with cephalic sensation ,伴头部不适感的局灶性感觉发作,A seizure characterized by a sensation in the head such as light-headedness or headache as its first clinical manifestation. ,校对中... +HP:0032864,Focal aware sensory seizure with auditory features ,伴听觉特征并意识保留的局灶性感觉发作,A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure. ,校对中... +HP:0032867,Refractory status epilepticus ,难治性癫痫持续状态,"Refractory status epilepticus is defined as status epilepticus continuing despite two appropriately selected and dosed antiepileptic drugs, including a benzodiazepine. ",校对中... +HP:0032898,Focal automatism seizure ,局灶性自动症发作,A focal seizure characterized at onset by coordinated motor activity. This often resembles a voluntary movement and may consist of an inappropriate continuation of preictal motor activity. ,校对中... +HP:0032930,Lacunar halos around chondrocytes ,软骨细胞周围腔隙环,Concentric rings around the chondrocytes. ,校对中... +HP:0032934,Spontaneous cerebrospinal fluid leak ,自发性脑脊液漏,A spontaneous cerebrospinal fluid leak (SCSFL) is a spontaneous and unexplained leak of the cerebrospinal fluid from the dura surrounding either the brain (cranial leak) or spine (spinal leak). ,校对中... +HP:0032945,Renal interstitial inflammation ,间质性肾炎,"Histopathological findings of inflammation of the renal interstitium potentially involving fibrotic as well as non-fibrotic areas, composed of lymphocytes, monocytes, plasma cells. ",校对中... +HP:0032948,Renal interstitial fibrosis ,肾间质纤维化,"The accumulation of collagen and related extracellular matrix (ECM) molecules in the interstitium of the kidney. The interstitium is expanded by the presence of collagen that stain blue on trichrome. Tubules are not back to back, but rather separated by fibrosis and can be atrophic. ",校对中... +HP:0032965,Interstitial emphysema ,间质性肺气肿,"Interstitial emphysema is characterized by air dissecting within the interstitium of the lung, typically in the peribronchovascular sheaths, interlobular septa, and visceral pleura. It is most commonly seen in neonates receiving mechanical ventilation. It is rarely recognized radiographically in adults and is infrequently seen on CT scans. It appears as perivascular lucent or low attenuating halos and small cysts. ",校对中... +HP:0032967,Panacinar emphysema ,全小叶型肺气肿,Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis. ,校对中... +HP:0032976,Elevated bronchoalveolar lavage fluid lymphocyte proportion ,支气管肺泡灌洗液淋巴细胞比例升高,"Usually, Lymphoycytes make up less than 15% of all cells found in the bronchoalveloar lavage fluid. This elevated cell proportion can be induced by virus or drugs, or is associated with specific diseases. ",校对中... +HP:0032977,Elevated bronchoalveolar lavage fluid neutrophil proportion ,支气管肺泡灌洗液中性粒细胞比例升高,"Usually, Neutrophils make up less than 3% of all cells found in the broncho-alveloar lavage fluid. In children, standard value of neutrophils is higher depending on their age (children under the age of 5 show a maximum value of 10%). This elevated cell proportion is a sign for acute and chronic infections (HP:0012387, HP:0006538) and can be associated to specific diseases. ",校对中... +HP:0032979,Hemosiderin-laden macrophages in bronchoalveolar fluid ,支气管肺泡液中载血铁蛋白巨噬细胞,"Hemosiderin-laden macrophages (HLM) in bronchoalveolar lavage (BAL) fluid were originally known as adiagnostic biomarker of alveolar hemorrhage, but have also been observed in idiopathic pulmonary fibrosis (IPF) with histopathological pattern of usual interstitial pneumonia (UIP). ",校对中... +HP:0032980,Absent bronchoalveolar surfactant-protein C ,支气管肺泡表面活性剂蛋白C缺乏,"Significantly decreased level or failed detection of surfactant protein C in broncho-alveolar lavage fluid. Comment: Pulmonary surfactant is a highly surface-active mixture of proteins and lipids that is synthesized and secreted onto the alveoli by type II epithelial cells. The protein part of surfactant constitutes of four types of surfactant proteins (SP), SP-A, SP-B, SP-C and SP-D. SP-A and SP-D are hydrophilic proteins that regulate surfactant metabolism and have immunologic functions, whereas SP-B and SP-C are hydrophobic molecules, which play a direct role in the organization of the surfactant structure in the interphase and in the stabilization of the lipid layers during the respiratory cycle. Lack of SP-C may result of surfactant metabolism dysfunction and is also observed in patients with other diffuse parenchymal lung diseaes, pathogenetically related to the alveolar surfactant region. ",校对中... +HP:0032981,Absent bronchoalveolar dimeric surfactant-protein B ,支气管肺泡二聚体表面活性剂蛋白B缺乏,Significantly decreased level or failed detection of surfactant protein B in broncho-alveolar lavage fluid. ,校对中... +HP:0032987,Elevated bronchoalveolar lavage fluid eosinophil proportion ,支气管肺泡灌洗液嗜酸性粒细胞比例升高,"Usually, eosinophils make up less than 0.5% of all cells found in the broncho-alveloar lavage fluid. But in eosinophilic lung disease, the eosinophil cell proportion typically represents more than 25%. Comment: An elevated level of eosinophil cells are also a result of infections, or an allergic reaction or can be drug-induced. ",校对中... +HP:0032988,Persistent head lag ,持续性头滞后,"The Premie-Neuro and the Dubowitz Neurological Examination score head lag in the same manner. Scoring for both is as follows: 0 = head drops and stays back, 1 = tries to lift head but drops it back, 2 = able to lift head slightly, 3 = lifts head in line with body, and 4 = head in front of body. This term applies if head lag persists beyond an expected age at a level of 0 or 1. Persistent head lag beyond age 4 mo has been linked to poor outcomes. ",校对中... +HP:0032989,Delayed ability to roll over ,翻身能力延迟,Delayed ahcievement of the ability to roll front to back and back to front. ,校对中... +HP:0032999,Increased fecal porphyrin ,粪卟啉增多,Abnormally high concentration of fecal porphyrins in feces. ,校对中... +HP:0033001,Laryngeal papilloma ,喉乳头状瘤,"A wart-like lesion (papilloma, i.e., benign epithelial tumors that are caused by infection with the human papilloma virus) located on the larynx. ",校对中... +HP:0033004,Palmar warts ,手掌疣,"Multiple verrucous lesions on the skin of the palm. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). ",校对中... +HP:0033005,Plantar warts ,足底疣,"Multiple verrucous lesions on the skin of the sole of the foot. These lesions are raised, have a thickened and rough surface, and may display prominent black dots (thrombosed capillaries). Palmar warts are caused by caused by human papillomavirus (HPV). ",校对中... +HP:0033008,Increased Z-disc width ,Z线宽度增加,"Abnormally increased width of the Z-disk of the sarcomere, resulting from splitting or opening of the Z-disc (c.f., Figure 2 of PMID:28732005). ",校对中... +HP:0033009,Increased fecal coproporphyrin 1 ,粪卟啉1增多,Abnormally high concentration of coproporphyrin 3 in feces. ,校对中... +HP:0033010,Increased fecal coproporphyrin 3 ,粪卟啉3增多,Abnormally high concentration of coproporphyrin 3 in feces ,校对中... +HP:0033011,Platystencephaly ,扁窄头,"Extreme width of the skull in the occipital region, with anterior narrowing and prognathism. ",校对中... +HP:0033026,White oral mucosal macule ,口腔粘膜白斑,A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed. ,校对中... +HP:0033027,Retinal peau d'orange ,视网膜橘皮样损害,A pebbly orange appearance of the fundus that is said to resemble the skin of an orange. ,校对中... +HP:0033028,Anti-ribonucleoprotein antibody positivity ,抗核糖核蛋白抗体阳性,"The presence autoantibodies in the serum that react to proteins (70 Kd, A, C) that are associated with U1 RNA and form U1snRNP.Comment: High titers of anti-RNP antibodies are diagnostic of mixed connective tissue disorder (MCTD). Anti-RNP antibodies can also be found in patients with systemic lupus erythematosus (SLE). ",校对中... +HP:0033034,Anti-citrullinated protein antibody positivity ,抗瓜氨酸化蛋白抗体阳性,"The presence autoantibodies in the serum that react do different citrullinated antigens, including filaggrin, fibrinogen, vimentin and collagen. ",校对中... +HP:0033036,Decreased nasal nitric oxide ,鼻腔一氧化氮减低,Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. ,校对中... +HP:0033044,Motor regression ,运动倒退,"Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones. ",校对中... +HP:0033048,Substantia nigra hypointensity on susceptibility-weighted imaging ,SWI序列黑质低信号,Hypointence (dark) appearance of the substantia nigra inmagnetic resonance imaging using susceptibility weighted imaging (SWI). ,校对中... +HP:0033049,Globus pallidus hypointensity on susceptibility-weighted imaging ,SWI序列苍白球低信号,Hypointence (dark) appearance of the globus pallidus inmagnetic resonance imaging using susceptibility weighted imaging (SWI). ,校对中... +HP:0033050,Pharyngalgia ,咽痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the throat. ",校对中... +HP:0033051,Impaired executive functioning ,执行功能受损,"A disturbance of executive functioning, which is broadly defined as the set of abilities that allow for the planning, executing, monitoring, and self-correcting of goal-directed behavior while inhibiting task-irrelevant behavior. At least some degree of executive skill is needed to complete most cognitive tasks, and deficits in executive abilities are central to many clinical conditions, including fronto-temporal dementia. ",校对中... +HP:0033054,Myoclonic tremor ,肌阵挛性震颤,"A tremor-like cortical myoclonus. The tremulous movements are in fact small, high-frequency myoclonic jerks, induced by posture or action. They can be mild, but can also be more incapacitating. When present in the lower limbs, these may lead to gait disorders and even drop attacks. These tremor-like movements during action can be mistaken for essential tremor or epileptic seizures. ",校对中... +HP:0033058,Decreased serum complement C7 ,血清补体 C7 减少,A reduced level of the complement component C7 in the blood circulation. ,校对中... +HP:0033059,Decreased serum complement C6 ,血清补体 C6 减少,A reduced level of the complement component C6 in the blood circulation. ,校对中... +HP:0033060,Decreased serum complement C5 ,血清补体 C5 减少,A reduced level of the complement component C5 in the blood circulation. ,校对中... +HP:0033061,Increased factor IX activity ,因子 IX 活性增高,"Elevated activity of coagulation factor IX. Factor IX, which itself is activated by factor Xa or factor VIIa to form factor IXa, activates factor X into factor Xa. ",校对中... +HP:0033074,Steroid-responsive anemia ,激素反应性贫血,Amelioration of anemia upon treatment with a steroid medication. ,校对中... +HP:0033075,Inappropriately normal thyroid-stimulating hormone level ,促甲状腺激素水平不适当正常,A normal or elevated serum thyroid-stimulating hormone (TSH) level in the face of an elevation in circulating FT4 and/or FT3. ,校对中... +HP:0033078,Decreased circulating free T4 level ,血液游离T4水平降低,A reduced concentration of free thyroxine (fT4) in the blood circulation. ,校对中... +HP:0033082,Reduced TSH response to thyrotrophin-releasing hormone stimulation test ,促甲状腺激素释放激素刺激试验引起的TSH降低,A lower than normal TSH response to thyrotrophin-releasing hormone stimulation test. ,校对中... +HP:0033083,Increased circulating farnesol concentration ,循环法尼醇浓度升高,An elevated level of farnesol in the blood circulation. ,校对中... +HP:0033085,Reduced antral follicle count ,窦卵泡减少,A count of antral follicles that is lower than normal for age. ,校对中... +HP:0033087,Quotidian fever ,每日热,Fever that occurs at daily intervals. ,校对中... +HP:0033092,Increased urine succinate level ,尿琥珀酸水平升高,An increase in the level of succinate in the urine. ,校对中... +HP:0033102,Monkey wrench femoral neck ,扳手样股骨颈,"The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle. ",校对中... +HP:0033104,Inappropriate absence of fever ,异常的不发热,Failure to develop fever in the presence of an infection that normally would be expected to elicit a febrile response. ,校对中... +HP:0033105,Interhypothalamic Adhesion ,下丘脑间粘连,An abnormal parenchymal band connecting the medial margins of the left and right hypothalami across the third ventricle. ,校对中... +HP:0033106,Elevated circulating D-dimer concentration ,循环 D-二聚体浓度增高,"An increased concentration of D-dimers, a marker of fibrin degradation, in the blood circulation. ",校对中... +HP:0033117,Duodenitis ,十二指肠炎,Inflammation of the lining of the upper small intestine (duodenum). ,校对中... +HP:0033122,Absent P wave ,P波消失,The P wave that normally precedes each QRS complex by a fixed PR interval of 120 to 200 milliseconds is not present. ,校对中... +HP:0033124,Increased serum sorbitol concentration ,血清山梨醇浓度升高,An increased level of sorbitol in the blood circulation. ,校对中... +HP:0033128,Delayed ability to crawl ,爬行能力延迟,A failure to achieve the ability to crawl at an appropriate developmental stage. Normal infant motor development is marked by a series of postural milestones including learning to crawl on hands and knees between the ages of 6 and 10 months. ,校对中... +HP:0033132,Renal cortical hyperechogenicity ,肾皮质回声增强,Increased echogenecity of the kidney cortex. ,校对中... +HP:0033134,Abdominal adhesions ,腹腔粘连,"Fibrous bands (i.e., bands of scar-like tissue) that span two or more intra-abdominal organs and/or the inner abdominal wall (i.e. peritoneal membrane). ",校对中... +HP:0033141,Severe SARS-CoV-2 infection ,严重的 SARS-CoV-2 感染,"Unusually severe clinical course of SARS-CoV-2 infection, manifested clinically by features such as dyspnea and hypoxia with diffuse bilateral ground-glass opacities of the lungs on computed tomographic scan with progressive respiratory insufficiency necessitating oxygen supplementation or mechanical ventilation. ",校对中... +HP:0033142,Long nasal bridge ,长鼻梁,"Increased superior-inferior length of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. ",校对中... +HP:0033146,Elevated circulating methylsuccinic acid concentration ,循环甲基琥珀酸浓度升高,Increased concentration of methylsuccinic acid in the blood circulation. ,校对中... +HP:0033149,Intrahepatic bile duct dilatation ,肝内胆管扩张,Increased diameter (caliber) of intrahepatic bile ducts (bile ducts that transport bile between the Canals of Hering and the interlobar bile ducts). ,校对中... +HP:0033155,Elevated circulating L-alloisoleucine concentration ,循环L -别异亮氨酸循环浓度升高,Abnormally increased concentration of L-alloisoleucine in the blood circulation. ,校对中... +HP:0033158,Reduced respiratory ciliary beating frequency ,呼吸纤毛摆动频率异常,An abnormal reduction in the number of beats per unit time of the respiratory cilia. ,校对中... +HP:0033165,Necrotizing enterocolitis ,坏死性小肠结肠炎,Inflammation of the intestine leading to bacterial invasion causing cellular damage and death which causes necrosis of the colon and intestine. ,校对中... +HP:0033166,Recurrent viral upper respiratory tract infections ,复发性病毒性上呼吸道感染,"An increased susceptibility to viral upper respiratory tract infections as manifested by a history of recurrent viral upper respiratory tract infections (otitis, sinusitis, pharyngitis, tonsillitis). ",校对中... +HP:0033176,Submandibular lymph node enlargement ,颌下淋巴结肿大,Increased size of the lymph nodes that are located beneath the mandible (lower jaw). ,校对中... +HP:0033177,Elevated circulating suberic acid concentration ,循环辛二酸浓度升高,"An increased concentration of suberic acid in the blood circulation. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. ",校对中... +HP:0033178,Increased circulating interleukin 8 ,循环白细胞介素 8增加,An increased concentration of interleukin-8 in the circulation. ,校对中... +HP:0033183,Bilobed right lung ,二叶右肺,A developmental defect of pulmonary lobation characterized by the presence of only two lobes of the right lung. ,校对中... +HP:0033186,Misalignment of the pulmonary veins ,肺静脉错位,"The term is commonly used to describe a putative abnormal location of pulmonary vein branches adjacent to pulmonary arteries within the same adventitial sheath. However, evidence has been provided that the vessels in question are not pulmonary veins, however represent dilated bronchial veins. ",校对中... +HP:0033187,Hyperimidodipeptiduria ,高亚氨基二肽尿症,Elevated levels of proline-containing dipeptides in urine. ,校对中... +HP:0033188,Cystic acne ,囊肿性痤疮,A severe type of acne characterized by the formation of cysts enclosing a mixture of keratin and sebum. ,校对中... +HP:0033189,Radiculomegaly ,牙根外露,"Tooth root length more than 2 SD above mean, or subjectively apparently increased tooth root length. ",校对中... +HP:0033190,Hypertrichotic hyperpigmented patch ,多毛色素沉着斑,A large nonpalpable spot of the skin over 1 cm in dimension with increased pigmentation and increased hair growth. ,校对中... +HP:0033193,Ballooning hepatocyte degeneration ,气球样肝细胞变性,"Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarified, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. ",校对中... +HP:0033194,Perioral erythema ,口周红斑,Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the mouth. ,校对中... +HP:0033195,Perianal erythema ,肛周红斑,Erythema (Redness of the skin caused by hyperemia of the capillaries in the lower layers of the skin) localized to the region surrounding the anus. ,校对中... +HP:0033196,Portal inflammation ,门脉区炎症,Infiltration of portal fields by inflammatory cells. ,校对中... +HP:0033199,Increased circulating interleukin 10 ,循环中白细胞介素 10升高,An elevation of the concentration of interleukin 10 in the blood circulation. ,校对中... +HP:0033204,Triceps hyperreflexia ,肱三头肌反射活跃,Increased intensity of the triceps reflex. ,校对中... +HP:0033207,Increased proportion autoreactive unresponsive CD21-/low B cells ,自身反应性无应答 CD21-/低 B 细胞比例增高,"Increased proportion relative to B-lymphocytes of a subset of B lymphocytes characterized by dim/low levels of CD21, i.e., CD21-/low, in flow cytometry, and additionally enriched in autoreactive clones as determined for instance by clonse showing rheumatoid factor (anti-IgG) reactivity and antibodies recognizing cytoplasmic and to a lesser extent nuclear structures. ",校对中... +HP:0033208,Alveolar capillary dysplasia ,肺泡毛细血管异常增生,"A developmental defect of the alveolar airspace during cananicular lung development characterized by a decreased number of pulmonary capillaries located away from the alveolar epithelium, thickened alveolar septae, media hypertrophy of small pulmonary arteries and muscularization of distal arterioles, and in some cases lymphangiectasis. ",校对中... +HP:0033210,Congenital alveolar dysplasia ,先天性肺泡发育异常,"Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries. ",校对中... +HP:0033213,Elevated urine suberic acid level ,尿辛二酸水平升高,"An increased in the level of suberic acid in the urine above the normal range. Suberic acid is an alpha,omega-dicarboxylic acid that is the 1,6-dicarboxy derivative of hexane. ",校对中... +HP:0033221,Increased CD4:CD8 ratio ,CD4:CD8 比值增高,An abnormal elevation of the relative proportion of CD4+ to CD8+ T cells. ,校对中... +HP:0033222,Decreased CD4:CD8 ratio ,CD4:CD8 比值减低,An abnormal reduction of the relative proportion of CD4+ to CD8+ T cells. ,校对中... +HP:0033250,Nailfold capillary tortuosity ,甲襞毛细血管曲折,An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. ,校对中... +HP:0033252,Palmar hyperlinearity ,掌纹过多,Exaggerated skin markings (dermatoglyphics) on the palms of the hand. ,校对中... +HP:0033253,Reduced circulating interferon gamma ,循环干扰素γ降低,A reduction in the concentration of interferon gamma measured in the blood circulation. ,校对中... +HP:0033256,Pancolitis ,全结肠炎,Inflammation of the entire colon. ,校对中... +HP:0033258,Sudden unexpected death in epilepsy ,癫痫猝死症,"Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus, in which postmortem examination has not revealed a cause of death. ",校对中... +HP:0033260,Livedo racemosa ,葡萄状青斑,"Livedo racemosa describes a reddish-blue mottling of the skin in an irregular, reticular pattern. It differs from the more common livedo reticularis by its shape. Livedo racemosa consists of broken circular segments resulting in a seemingly larger pattern, as opposed to the fine, regular, complete network of livedo reticularis. Livedo racemosa results from permanent impairment of peripheral blood flow and, unlike livedo reticularis, it persists on warming. ",校对中... +HP:0033261,Renal artery aneurysm ,肾动脉瘤,"Increase in diameter of a segment of the renal artery that can be defined as a focal, isolated dilatation of all three layers of the arterial wall over 1.5 times the diameter of the disease-free proximal adjacent arterial segment. ",校对中... +HP:0033263,Absent platelet dense granules ,血小板致密颗粒缺乏,"Lack of platelet dense granules, a type of platelet organelles. ",校对中... +HP:0033264,Enlarged platelet dense granules ,血小板致密颗粒增大,Increased size of platelet dense granules. ,校对中... +HP:0033278,Reduced CD95-induced lymphocyte apoptosis ,CD95诱导的淋巴细胞凋亡减少,"Reduced amount of programmed cell death in peripheral blood lymphocytes following exposure to CD95 (APO-1/Fas), which is a member of the death receptor family, a subfamily of the TNF-R superfamily. Crosslinking of CD95 with its natural ligand CD95L (CD178) or with agonistic antibodies such as anti-APO-1 induces apoptosis in sensitive cells. ",校对中... +HP:0033279,Enterocutaneous fistula ,肠外瘘,An abnormal connection (fistula) between the intra-abdominal intestinal tract and the skin. ,校对中... +HP:0033280,Paratracheal lymphadenopathy ,气管旁淋巴结肿大,Enlargement of lymph nodes surrounding the trachea. ,校对中... +HP:0033281,Circulating nucleated red blood cells ,循环有核红细胞,The presence of nucleated red blood cells in the peripheral blood circulation. ,校对中... +HP:0033295,Mesangial Immune complex deposition ,系膜免疫复合物沉积,Extracellular meangial accumulation of finely granular material corresponding to immunoglobulin and/or complement by immunofluorescence/immunohistochemistry; most typically electron-dense although this may decrease with resorption of the deposit. ,校对中... +HP:0033308,Patellar overgrowth ,髌骨过度生长,Excessive growth of the kneecap (patella). ,校对中... +HP:0033309,Ileoileal intussusception ,回盲肠肠套叠,A type of intussusception of the small intestine in which one part of the ileum invaginates (telescopes) into another part of the ileum. ,校对中... +HP:0033325,Elevated circulating sebacic acid concentration ,循环癸二酸浓度升高,Increased concentration of sebacic acid in the blood circulation. ,校对中... +HP:0033328,Type II pneumocyte hyperplasia ,II型肺泡上皮细胞增生,"Enlargement of type II pneumocytes characterized by qualitative morphologic alterations, including cuboidal shapes, increased nucleocytoplasmic ratio, enlarged nuclei, prominent nucleoli, and various alterations in their nuclear chromatin. ",校对中... +HP:0033331,Acute phase response ,急性期反应,"Presence of one or more manifestations of the acute phase response. Acute phase proteins (APP) are blood proteins primarily synthesized by hepatocytes as part of the acute phase response (APR). The APR is part of the early-defense or innate immune system, which is triggered by different stimuli including trauma, infection, stress, neoplasia, and inflammation. The APR results in a complex systemic reaction with the goal of reestablishing homeostasis and promoting healing. ",校对中... +HP:0033332,Elevated circulating amyloid A ,循环淀粉样蛋白A升高,An increased concentration of serum amyloid A in the blood circulation. ,校对中... +HP:0033335,Abnormal preimplantation embryonic development ,植入前胚胎发育异常,An anomaly in the development of the embryo in a stage prior to implantation. ,校对中... +HP:0033336,Zygotic cleavage failure ,合子分裂失败,Failure of a fertilized oocyte to undergo the first round of cell division. ,校对中... +HP:0033339,Increased circulating inosine concentration ,循环肌苷浓度增加,An increased concentration of inosine in the blood circulation. ,校对中... +HP:0033340,Increased circulating guanosine concentration ,循环��苷浓度增加,Increased concentration of guanosine in the blood circulation. ,校对中... +HP:0033341,Elevated circulating sitosterol concentration ,循环谷固醇浓度增加,An increased concentration of beta-sitosterol in the blood circulation. ,校对中... +HP:0033343,Mucoid diarrhea ,黏液状腹泻,"Passage of an increased number of stools containing mucus, a thick fluid substance secreted by mucous membranes. ",校对中... +HP:0033349,Seizure cluster ,成簇癫痫发作,"A fourfold or greater increase of usual seizure frequency within a 3-day period, where the patient demonstrates full recovery between seizure events within the cluster. The seizure cluster should be recognisable by the primary clinician, carer or patient. ",校对中... +HP:0033351,Candida esophagitis ,念珠菌性食管炎,"Candida infections of the esophagus are considered opportunistic infections and are seen most commonly in immunosuppressed patients, the most common symptoms being dysphagia, odynophagia, and retrosternal pain. ",校对中... +HP:0033355,Increased urine deoxypyridinoline level ,尿脱氧吡啶啉水平升高,"An increased level of deoxypyridinoline in the urine. Deoxypyridinoline is a crosslink product of collagen molecules found in bone and excreted in urine during bone degradation, has been described as a marker of bone turnover. ",校对中... +HP:0033357,Limited head rotation ,转头受限,Reduced range of motion turning the head side to side. ,校对中... +HP:0033362,Recurrent coughing spasms ,反复咳嗽痉挛,"Repeated occurrence of episodes of coughing, with each episode consisting of at least five minutes of continuous coughing. ",校对中... +HP:0033369,Cavitating leukodystrophy ,空洞性脑白质营养不良,A type of leukodystrophy characterized by multiple small cavitations typically in the periventricular and deep cerebral white matter. The cavitations are visible as a central cavity with cerebrospinal fluid-like signal intensity. ,校对中... +HP:0033379,Bilateral superior vena cava ,双侧上腔静脉,The presence of a left and a right superior vena cava. ,校对中... +HP:0033380,Nasal chondritis ,鼻软骨炎,Inflammation of the cartilage of the nose. ,校对中... +HP:0033383,Decreased compound muscle action potential amplitude ,复合肌肉动作电位波幅降低,"Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve. ",校对中... +HP:0033393,Irregularly shaped sperm tail ,精子尾部畸形（不规则形状的精子尾）,Irregular or changing caliber (diameter) along the tail of the sperm. ,校对中... +HP:0033399,Persistent fever ,持续性发热,"Fever that persists longer than expected for an acute infectious disease. No precise threshold exists, and the clinical interpretation of fever is context-dependent, but as a rule of thumb, this term refers to fever that persists longer than 2-3 weeks. ",校对中... +HP:0033424,Pulmonary arterial hypertension with lack of acute response to NO challenge ,对NO刺激缺乏急性反应的肺动脉高压,A form of pulmonary arterial hypertension with lack of adequate hemodynamic response to NO challenge (adequate response is defined as a reduction of mean pulmonary artery pressure (mPAP) of at least 10 mmHg to reach an absolute value of mPAP 40 mmHg or less with an increased or unchanged cardiac output (CO) in response to inhaled nitric oxide at 10-20 ppm). ,校对中... +HP:0033425,Periungual erythema ,甲周红斑,Erythema (redness of the skin caused by hyperemia in superficial capillaries) in the region surrounding a fingernail or toe nail. ,校对中... +HP:0033434,Nasal septum perforation ,鼻中隔穿孔,A full-thickness defect of the nasal septum. ,校对中... +HP:0033444,Elevated circulating dodecanoylcarnitine concentration ,循环十二碳酰肉碱浓度升高,Increased concentration of dodecanoylcarnitine in the blood circulation. ,校对中... +HP:0033446,Elevated circulating butyrylcarnitine concentration ,循环中丁酰肉碱浓度升高,Increased concentration of O-butyrylcarnitine in the blood circulation. ,校对中... +HP:0033454,Tube feeding ,管饲,Feeding problem necessitating food and nutrient delivery via a tube. ,校对中... +HP:0033465,Elevated circulating tetradecanolycarnitine concentration ,循环十四烷肉碱浓度升高,Elevated circulating tetradecanoyl concentration. ,校对中... +HP:0033466,Weak grip ,抓握无力,Reduced grip strength. Gripping is the motion by which the hand tightly grasps an object or other hand. ,校对中... +HP:0033503,Elevated CSF fumarate ,脑脊液中富马酸盐浓度增加,"An increased concentration of fumarate, an intermediate in the citric acid cycle, in the cebrebrospinal fluid. ",校对中... +HP:0033504,Elevated circulating fumarate concentration ,循环延胡索酸浓度升高,"An increased concentration of fumarate, an intermediate in the citric acid cycle, in the blood circulation. ",校对中... +HP:0033505,Livedo reticularis ,网状青斑,"Livedo reticularis is characterized by the presence of a bluish purple, mottled or netlike pattern in unbroken circles on the skin. Exposure to cold environments usually intensifies the vascular pattern. Presumably, the condition results from slow or stagnant blood flow, vessel-wall pathology, and decreased oxygen tension. ",校对中... +HP:0033508,EBV meningitis ,EB病毒脑膜炎,Inflammation of the meninges related to infection by Epstein-Barr virus. ,校对中... +HP:0033509,EBV encephalitis ,EB病毒脑炎,Inflamation of the brain related to infection by Epstein-Barr virus. ,校对中... +HP:0033522,Cerebral cavernous malformation ,脑海绵状血管瘤,"A cerebral cavernous malformation (also known as cavernoma, cavernous angioma, cavernous hemangioma) is a collection of structurally abnormal slow-flow capillaries predominantly in the central nervous system. These are multiple mulberry-like distended caverns of dilated thin-walled capillaries without the normal intervening brain parenchymal architecture. Often, individual cavernomas are surrounded by hemosiderin representing remote oozing due to the abnormal capillaries. ",校对中... +HP:0033524,Abnormal sperm axoneme morphology ,精子轴丝形态异常,"Abnormal structure of the sperm axonemal structure which consists of a ring of nine microtubular doublets and a central pair of microtubules, giving the classical 9+2 microtubular arrangement. The axoneme contains a central pair of microtubules (C1 and C2) that are connected by a bridge-like structure forming the central pair complex (CPC). Each of the nine outer doublets is composed of type A and B microtubules and connected by radial spokes to the CPC. ",校对中... +HP:0033525,Absent sperm axoneme central pair complex ,精子轴丝中心对复合体缺失,"Absense of the central pair of microtubules in the sperm axoneme, thereby forming a 9+0 pattern instead of the normal 9+2 pattern. ",校对中... +HP:0033535,Reduced platelet dense granules ,血小板致密颗粒减少,"Decreased number of platelet dense granules, a type of platelet organelle. ",校对中... +HP:0033536,Reduced platelet alpha granules ,血小板α颗粒减少,A reduced number of platelet alpha granules. ,校对中... +HP:0033542,Bronchial wall thickening ,支气管壁增厚,"Radiological appearance of increased density around the walls of a bronchus or large bronchiole. This feature is thought to be related to edema involving the bronchial wall as well as the peribronchial interstitial space. If the cross section of a bronchus is captured in a radiograph or computed tomography image, it is said to have the appearance of a donut because of the central lucency representing the airway of the bronchus surrounded by a circular region of increased density. ",校对中... +HP:0033579,Decreased growth hormone responses to growth hormone-releasing hormone challenge ,生长激素释放激素激发后生长激素分泌不足,Insufficient growth hormone secretion following administration of growth hormone-releasing hormone. ,校对中... +HP:0033581,Absent peripheral lymph nodes in presence of infection ,感染时周围淋巴结缺失,The absence of any palpable lymph nodes in the presence of symptoms suggesting infection in that drainage area should raise suspicion for immunodeficiency diseases. ,校对中... +HP:0033582,Pulmonary interstitial lymphocyte infiltration ,肺间质淋巴细胞浸润,Abnormal accumulation of lymphocytes in the interstitium of the lung. ,校对中... +HP:0033584,Nonspecific interstitial pneumonia ,非特异性间质性肺炎,"Temporally uniform (all lesions are in the same stage of evolution) pattern of diffuse inflammatory interstitial process, mostly symmetric over the entire lung, involving mainly the alveolar septa. ",校对中... +HP:0033589,Flatulence ,肠胃胀气,Passage of excessive amounts of gas and the feeling of abdominal fullness and bloating. ,校对中... +HP:0033594,Elevated urinary 7-biopterin level ,尿7-生物蝶呤水平升高,An abnormally increased amount of 7-biopterin in the urine. ,校对中... +HP:0033595,Elevated circulating globotriaosylceramide concentration ,循环中神经酰胺三己糖苷浓度升高,"Increased concentration of globotriaosylceramide (Gb3) in the blood circulation. Globotriaosylceramide, also named ceramidetrihexoside, is the primary lipid storage in Fabry disease. ",校对中... +HP:0033597,Decreased mucosal sucrase-isomaltase activity ,粘膜蔗糖酶-异麦芽糖酶活性降低,"Reduced activity of the linked disaccharidase, sucrase-isomaltase, which is a glycoprotein localized to the brush border membrane of small intestinal villi. ",校对中... +HP:0033605,Pustular rash ,脓疱疹,"A rash composed of pustular lesions. A pustule is defined as a vesicle or bulla containing purulent material. It varies in size and may occur at different levels within the epidermis: subcorneal, intraepidermal, or basement membrane zones. The pustules may or may not be sterile and are normally filled with neutrophils. ",校对中... +HP:0033606,Bone marrow maturation arrest ,骨髓成熟停滞,"Interruption of the procecss of diffferentiation of hematopoietic cells in the bone marrow, manifested by an increased proportion of immature cells in the bone marrow. ",校对中... +HP:0033614,Tracheal bronchus ,气管支气管,"Aberrant or accessory bronchus supplying the upper lobe originating from the lateral wall of the trachea. The tracheal bronchus is more commonly right-sided, has a variable length and may be blind-ended. Two common types of tracheal bronchus are: supernumerary and displaced. ",校对中... +HP:0033627,Increased urine harderoporphyrin level ,尿硬卟啉水平升高,Increased amount of harderoporphyrin in the urine. ,校对中... +HP:0033628,Bowel irritability ,肠易激,Intermittent abdominal pain with diarrhea and/or constipation. ,校对中... +HP:0033631,Spondylitis ,脊柱炎,Inflammation of the vertebrae (vertebral bodies) or spine. ,校对中... +HP:0033638,Intralobular septal thickening ,小叶内间隔增厚,"Intralobular septal thickening is a computed tomography finding of increased width of the walls (septa) within a pulmonary lobule. Secondary pulmonary lobules represent a cluster of up to 30 acini 9 supplied by a common distal pulmonary artery and bronchiole. These clustered acini are bounded by interstitial fibrous septa (interlobular septa) which outline an irregular polyhedron of varying size between 1 and 2.5 cm. Interlobular septal thickening is seen on chest radiographs as thin linear opacities at right angles to and in contact with the lateral pleural surfaces near the lung bases. In contrast, intralobular septal thickening are visible as fine linear opacities in a lobule when the intralobular interstitial tissue is abnormally thickened. When numerous, they may appear as a fine reticular pattern. ",校对中... +HP:0033640,Acetabular erosions ,髋臼侵蚀,"Erosion (loss of substance) of the acetabular subchondral cortical bone. The acetabulum is the concave surface that meets with the head of the femur, forming the hip joint. ",校对中... +HP:0033643,Increased circulating very long-chain fatty acid concentration ,循环极长链脂肪酸浓度增加,Increased concentation of very long-chain fatty acids in the blood circulation. Very long-chain fatty acids are fatty acids (FAs) with a chain-length of 22 or more carbons. ,校对中... +HP:0033644,Elevated circulating erythropoietin concentration ,血液促红细胞生成素浓度升高,Increased amount of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. ,校对中... +HP:0033645,Midline brainstem cleft ,脑干中线裂,"A developmental defect characterized by an abnormal cleft (V-shaped indentation of the stalklike part of the brain consisting of the medulla oblongata, the midbrain, and the pons. ",校对中... +HP:0033646,Absent hippocampal commissure ,海马联合缺失,Absence of the fibers that connect the contralateral hippocampi via the crura of the fornix and run beneath the posterior portion of the corpus callosum. ,校对中... +HP:0033649,Paraseptal emphysema ,隔旁气肿,"Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae. ",校对中... +HP:0033660,Hand paresthesia ,手感觉异常,Tingling (often refered to as a pins and needles feeling) and numbness in the hand. ,校对中... +HP:0033662,Air bronchogram ,空气支气管造影,"An air bronchogram is a pattern of air-filled (low-attenuation) bronchi on a background of opaque (high-attenuation) airless lung. The sign implies (a) patency of proximal airways and (b) evacuation of alveolar air by means of absorption (atelectasis) or replacement (eg, pneumonia) or a combination of these processes. In rare cases, the displacement of air is the result of marked interstitial expansion (eg, lymphoma). ",校对中... +HP:0033666,Diminished physical functioning ,身体机能减退,A reduction in the ability to perform activities of daily living as compared to previous abilities because of functional deficits due to illness. The 36-item Short Form (SF-36) health survey questionnaire is one of many methods used to measure patients' perceptions of diminished physical functioning. ,校对中... +HP:0033672,Positive carpal Tinel sign ,腕部Tinel征阳性,"The Tinel test is performed by lightly tapping (percussing) over the median nerve. It is positive (abnormal) if the patient experiences pain and paresthesias (tingling, numbness) along the distribution of the median nerve. ",校对中... +HP:0033673,Positive Phalen test ,Phalen征阳性,"The Phalen maneuver is performed by having the patient hold both wrists in complete and forced flexion (pushing the dorsal surfaces of both hands together) for 30-60 seconds. This can increase the pressure in the carpal tunnel. The test is positive (abnormal) if the patient experiences characteristic symptoms of carpal tunnel syndrome (pain and paresthesias along the distribution of the median nerve, i.e., thumb, index finger, and middle finger). ",校对中... +HP:0033677,Acute respiratory distress syndrome ,急性呼吸窘迫综合征,Acute respiratory distress syndrome (ARDS) is defined as an acute disorder that starts within seven days of the inciting event and is characterized by bilateral lung infiltrates and severe progressive hypoxemia in the absence of any evidence of cardiogenic pulmonary edema. ARDS is defined by the patient's oxygen in arterial blood (PaO2) to the fraction of the oxygen in the inspired air (FiO2). These patients have a PaO2/FiO2 ratio of less than 300. ,校对中... +HP:0033681,Oligodendroglioma ,少突神经胶质细胞瘤,Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG. ,校对中... +HP:0033682,Pleomorphic xanthoastrocytoma ,多形性黄色星形细胞瘤,"Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth. ",校对中... +HP:0033683,Jaw hyperreflexia ,下颌反射亢进,Increased intensity of muscle tendon reflexes in jaw. ,校对中... +HP:0033685,Fiber type grouping ,纤维类型分组,"An abnormal distribution of muscle fiber types in muscle tissue. Human skeletal muscle contains at least two fiber types recognizable by histochemical techniques. In transverse sections of normal skeletal muscle, type 1 and type 2 fibers are distributed in a random fashion. Grouping of fibers of the same type can be seen in certain peripheral neuropathies, thought to be due to reinnervation of denervated muscle fibers by sprouting axons. With grouping, motor units enlarge. The fibers of a motor unit, which are normally scattered, come to lie adjacent to one another. Histochemical examination shows groups of muscle fibers of the same histochemical type. ",校对中... +HP:0033686,Mitochondrial hypertrophy ,线粒体肥大,"Enlargment of mitochondria. Mitochondrial hypertrophy is not discernible by light microscopy. By electron microscopy (EM), hypertrophic mitochondria have normal cristae and normal matrix density. In contrast, swollen mitochondria display swollen cristae and irregular matrix densities in EM. ",校对中... +HP:0033701,Cortical sclerosis of the iliac wing ,髂翼皮质硬化,Increased density related to increased bone mass in the outermost layer (edge) of the iliac wing. ,校对中... +HP:0033704,Elevated urinary homogentisic acid ,尿黑酸升高,An increased amount of homogentisic acid in the urine. ,校对中... +HP:0033707,Perioral hyperkeratosis ,口周角化过度,Increased thickness of the stratum corneum (the outer layer of the skin) in the skin surrounding the mouth. ,校对中... +HP:0033712,Repeated implantation failure ,反复种植失败,Repeated implantation failure refers to a situation in which embryos of good quality fail to implant following several in vitro fertilization (IVF) treatment cycles. ,校对中... +HP:0033719,EEG with parietal epileptiform discharges ,顶叶癫痫样放电的脑电图,Focal epileptiform EEG discharges recorded in the parietal region. ,校对中... +HP:0033720,EEG with occipital epileptiform discharges ,枕叶癫痫样放电的脑电图,Focal epileptiform EEG discharges recorded in the occipital region. ,校对中... +HP:0033725,Thin corpus callosum ,薄胼胝体,"An abnormally thin corpus callous, due to atrophy, hypoplasia or agenesis. This term is intended to be used in situations where it is not known if thinning of the corpus callosum (for instance, as visualized by magnetic resonance tomography) is due to abnormal development (e.g. a leukodystrophy) or atrophy following normal development (e.g. neurodegeneration). ",校对中... +HP:0033726,Lupus nephritis ,狼疮性肾炎,"Lupus nephritis is a type of glomerulonephritis that constitutes one of the most severe organ manifestations of systemic lupus erythematosus. Lupus nephritis is subclassified in six distinct classes, that represent different manifestations and severities of renal involvement and guide the therapeutic management. ",校对中... +HP:0033736,Grade II vesicoureteral reflux ,II级膀胱输尿管反流,Vesicoureteral reflux into a non-dilated pyelocalyceal system. ,校对中... +HP:0033737,Grade III vesicoureteral reflux ,III级膀胱输尿管反流,Vesicoureteral reflux with dilatation of the collecting system. ,校对中... +HP:0033743,Macular agenesis ,黄斑发育不良,A congenital defect characterized by lack of development of the macula. ,校对中... +HP:0033748,Hypoesthesia ,感觉迟钝,Decreased ability to perceive touch. ,校对中... +HP:0033769,Fundic gland polyposis ,胃底腺息肉,"Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps. ",校对中... +HP:0033770,Gastric adenocarcinoma ,胃腺癌,"An adenocarcinoma arising from the stomach glandular epithelium. Gastric carcinoma often produces no specific symptoms when it is superficial and potentially surgically curable, although up to 50% of patients may have nonspecific gastrointestinal complaints such as dyspepsia. ",校对中... +HP:0033785,Enamel agenesis ,牙釉质发育不全,Complete or almost complete absence of enamel. ,校对中... +HP:0033794,Acral overgrowth ,肢端过度生长,"Excessive growth of hands and feet (predominantly due to soft tissue swelling). Typical manifestations include shoe size increase, foot enlargment, glove tightness, and hand enlargement. ",校对中... +HP:0033802,Intra-epidermal blistering ,表皮内起疱,A type of blistering in which the lesions are located within the epidermis with loss of cell-cell adhesion of keratinocytes. ,校对中... +HP:0033807,Absent keratohyalin granules ,透明角质颗粒缺失,"Lack of keratohyalin granules, which are normally present in the stratum granulosum of the epidermal layer of the skin. ",校对中... +HP:0033808,Spermatocele ,精液囊肿,"A cystic structure arising from the epididymis, rete testis or efferent ductuli. These structures are filled with spermatozoa containing fluid that may be milky. These cysts are usually outside the tunica vaginalis and, as with hydrocele, transluminate easily. ",校对中... +HP:0033810,Decreased circulating dihydrotestosterone concentration ,血液双氢睾酮浓度降低,A reduced concentration of dihydrotestosterone in the blood circulation. ,校对中... +HP:0033851,Oculomotor synkinesis ,眼球运动联动异常,"Elevation of the upper eyelid on attempted downward gaze or adduction, adduction of the eye on attempted upward or downward gaze, and constriction of the pupil on attempted adduction. ",校对中... +HP:0033977,Talar aplasia ,距骨发育不全,Absent talus owing to a congenital defect. ,校对中... +HP:0033978,Reduced beta-hexosaminidase activity ,β-己糖苷酶活性降低,Diminished activity of the enzyme beta-hexosaminidase in the blood circulation. ,校对中... +HP:0033980,Paroxysmal tonic upgaze ,阵发性强直性向上注视,"Recurrent episodes of sustained upward deviation of the eyes and incomplete downward saccades, and normal horizontal eye movements without impairment of consciousness. ",校对中... +HP:0033981,Vertebral artery tortuosity ,椎动脉迂曲,"Abnormal tortuous (i.e., twisted) form of the vertebral arteries. ",校对中... +HP:0033982,Celiac artery dissection ,腹腔动脉夹层,A separation (dissection) of the layers of the celiac artery wall. ,校对中... +HP:0033983,Decreased circulating apolipoprotein C-II concentration ,循环载脂蛋白C-II浓度降低,Reduced concentration of apolipoprotein C-II in the blood circulation. ,校对中... +HP:0033984,"Increased urinary 8-oxo-7,8-dihydroguanosine level ","尿8-氧-7,8-二氢鸟苷水平升高","An elevated amount of 8-oxo-7,8-dihydroguanosine in the urine. ",校对中... +HP:0033985,Elongated femoral neck ,股骨颈细长,Increased length of the neck of the femur. ,校对中... +HP:0033986,Tortuous lymphatic vessels ,淋巴管迂曲,The presence of an increased number of twists and turns of lymphatic vessels. ,校对中... +HP:0033992,未找到信息,-,-,- +HP:0033993,未找到信息,-,-,- +HP:0033994,未找到信息,-,-,- +HP:0033995,未找到信息,-,-,- +HP:0033996,未找到信息,-,-,- +HP:0033997,未找到信息,-,-,- +HP:0034003,未找到信息,-,-,- +HP:0034006,未找到信息,-,-,- +HP:0034007,未找到信息,-,-,- +HP:0034010,未���到信息,-,-,- +HP:0034011,未找到信息,-,-,- +HP:0034012,未找到信息,-,-,- +HP:0034029,未找到信息,-,-,- +HP:0034039,未找到信息,-,-,- +HP:0034040,未找到信息,-,-,- +HP:0034042,未找到信息,-,-,- +HP:0034043,未找到信息,-,-,- +HP:0034044,未找到信息,-,-,- +HP:0034045,未找到信息,-,-,- +HP:0034046,未找到信息,-,-,- +HP:0034047,未找到信息,-,-,- +HP:0034048,未找到信息,-,-,- +HP:0034049,未找到信息,-,-,- +HP:0034051,未找到信息,-,-,- +HP:0034053,未找到信息,-,-,- +HP:0034056,未找到信息,-,-,- +HP:0034067,未找到信息,-,-,- +HP:0034075,未找到信息,-,-,- +HP:0040009,Hyperparakeratosis ,过度角化不全,"Abnormal keratinization of the epidermal stratum coreum (horny layer) with increased keratin formation, preservation of the nuclei in the superficial cells, and absence of the stratum granulosum. ",校对中... +HP:0040010,Small posterior fossa ,后颅窝小, , +HP:0040012,Chromosome breakage ,染色体断裂,"Elevated rate of chromosomal breakage or interchanges occurring either spontaneously or following exposure to various DNA-damaging agents. This feature may be assayed by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents. ",校对中... +HP:0040013,Decreased mitochondrial number ,线粒体数量减少, , +HP:0040014,Increased mitochondrial number ,线粒体数目增加, , +HP:0040016,Prominent coccyx ,突出的尾骨, , +HP:0040018,Clinodactyly of hallux ,拇趾弯曲, , +HP:0040019,Finger clinodactyly ,指弯曲, , +HP:0040021,Radial deviation of the thumb ,拇指桡偏, , +HP:0040022,Clinodactyly of the 2nd finger ,第二指弯曲, , +HP:0040024,Clinodactyly of the 3rd finger ,第三指弯曲, , +HP:0040025,Clinodactyly of the 4th finger ,第四指弯曲, , +HP:0040030,Chorioretinal hypopigmentation ,脉络膜视网膜色素沉着减退, , +HP:0040031,Chorioretinal hyperpigmentation ,脉络膜视网膜色素沉着过多, , +HP:0040036,Onychogryposis of fingernail ,指甲弯曲,Thickened fingernails. ,校对中... +HP:0040042,Aplasia of the eccrine sweat glands ,外泌汗腺不发育, , +HP:0040047,Abnormal right hemidiaphragm morphology ,右侧横膈形态异常, , +HP:0040049,Macular edema ,黄斑水肿,"Thickening of the retina that takes place due to accumulation of fluid in the macula as a nonspecific response to blood-retinal barrier breakdown. Macular edema is a common pathological response to a wide variety of ocular insults, most commonly after intraocular (e.g. cataract) surgery or in association with retinal vascular (e.g. diabetic eye disease, retinal vein occlusion) or inflammatory (e.g. uveitis) disease. ",校对中... +HP:0040064,Abnormality of limbs ,肢体异常, , +HP:0040071,Abnormal morphology of ulna ,尺骨形态异常, , +HP:0040075,Hypopituitarism ,垂体功能减退, , +HP:0040078,Axonal degeneration ,轴索变性, , +HP:0040079,Irregular dentition ,牙列不规则, , +HP:0040080,Anteverted ears ,前倾耳, , +HP:0040081,Abnormal circulating creatine kinase concentration ,血液肌酸激酶水平异常,Any deviation from the normal circulating creatine kinase concentration. ,校对中... +HP:0040082,Happy demeanor ,快乐举止,A conspicuously happy disposition with frequent smiling and laughing that may be context-inappropriate or unrelated to context. ,校对中... +HP:0040084,Abnormal circulating renin ,循环肾素水平异常,"A deviation from the normal concentration of renin in the blood, a central hormone in the control of blood pressure and various other physiological functions. ",校对中... +HP:0040085,Abnormal circulating aldosterone ,循环醛固酮水平异常, , +HP:0040086,Abnormal prolactin level ,催乳素水平异常, , +HP:0040089,Abnormal natural killer cell count ,自然杀伤细胞数量异常,Any deviation from the normal overall count of natural killer (NK) cells in the circulation or a deviation from the normal distribution of NK cell subtypes. ,校对中... +HP:0040113,Old-aged sensorineural hearing impairment ,老年感音神经性听力障碍, , +HP:0040115,Abnormality of the Eustachian tube ,咽鼓管异常, , +HP:0040119,Unilateral conductive hearing impairment ,单侧传导性听力障碍, , +HP:0040126,Abnormal vitamin B12 level ,血清钴胺素异常,A deviation from the normal concentration of cobalamin (vitamin B12) in the blood. Vitamin B12 is one of the eight B vitamins. ,校对中... +HP:0040129,Abnormal nerve conduction velocity ,神经传导速度异常, , +HP:0040131,Abnormal motor nerve conduction velocity ,运动神经传导速度异常, , +HP:0040132,Abnormal sensory nerve conduction velocity ,感觉神经传导速度异常, , +HP:0040135,Abnormal transferrin saturation ,运铁蛋白饱和度异常,"Any abnormality in the serum transferrin saturation, which is calculated by dividing the serum iron level by total iron-binding capacity. ",校对中... +HP:0040137,Comedonal acne ,粉刺性痤疮,"A type of acne in which open and closed comedones comprise the majority of the lesions, with substantially fewer papules and pustules. ",校对中... +HP:0040139,Lipogranulomatosis ,脂肪肉芽肿病,Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions. ,校对中... +HP:0040140,Degeneration of the striatum ,纹状体退行性变, , +HP:0040142,Reduced 5-oxoprolinase level ,5-羟脯氨酸酶缺乏症,Decreased level of the reaction 5-oxo-L-proline + ATP + 2 H(2)O = L-glutamate + ADP + 2 H(+) + phosphate. ,校对中... +HP:0040144,L-2-hydroxyglutaric aciduria ,L-2-羟基戊二酸尿症,An increase in the level of L-2-hydroxyglutaric acid in the urine. ,校对中... +HP:0040145,Dicarboxylic acidemia ,二羧酸血症, , +HP:0040146,D-2-hydroxyglutaric acidemia ,D-2-羟基戊二酸血症, , +HP:0040147,L-2-hydroxyglutaric acidemia ,L-2-羟基戊二酸血症, , +HP:0040148,Cortical myoclonus ,皮质性肌阵挛,"Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic). ",校对中... +HP:0040149,Woolly scalp hair ,羊毛状发,"The presence of woolly hair on the scalp. The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. ",校对中... +HP:0040154,Acne inversa ,化脓性汗腺炎,"A chronic skin condition involving the inflammation of the apocrine sweat glands, forming pimple-like bumps known as abscesses. ",校对中... +HP:0040155,Elevated urinary 3-hydroxybutyric acid ,尿3-羟基丁酸水平升高,An increased amount of 3-hydroxybutyric acid in the urine. ,校对中... +HP:0040159,Abnormal spaced incisors ,切牙间隙异常, , +HP:0040160,Generalized osteoporosis ,全身性骨质疏松症, , +HP:0040161,Localized osteoporosis ,局部骨质疏松, , +HP:0040162,Orthokeratosis ,正角化,Formation of an anuclear keratin layer ,校对中... +HP:0040163,Abnormal pelvis bone morphology ,盆骨形态异常, , +HP:0040165,Periostitis ,骨膜炎,Inflammation of the periosteum ,校对中... +HP:0040166,Abnormality of the periosteum ,骨膜异常, , +HP:0040167,Facial papilloma ,面部乳头状瘤, , +HP:0040169,Loose anagen hair ,生长期毛发松动, , +HP:0040171,Decreased serum testosterone concentration ,血清睾酮水平降低, , +HP:0040173,Abnormality of the tongue muscle ,舌肌异常, , +HP:0040175,Platelet-activating factor acetylhydrolase deficiency ,血小板活化因子乙酰水解酶缺乏,Reduced level of platelet-activating factor acetylhydrolase. ,校对中... +HP:0040178,Increased level of platelet-activating factor ,血小板活化因子水平升高, , +HP:0040181,Chapped lip ,嘴唇皲裂,"Cracking, fissuring, and peeling of the skin of the lips. ",校对中... +HP:0040184,Oral bleeding ,口腔出血, , +HP:0040185,Macrothrombocytopenia ,巨血小板减少症, , +HP:0040186,Maculopapular exanthema ,斑丘疹样皮疹,A skin rash that is characterized by diffuse cutaneous erythema with areas of skin elevation. It may evolve to vesicles or papules as part of a more severe clinical entity. Different degrees of angioedema with involvement of subcutaneous tissue may also appear. ,校对中... +HP:0040187,Neonatal sepsis ,新生儿败血症,Systemic inflammatory response to infection in newborn babies. ,校对中... +HP:0040188,Osteochondrosis ,骨软骨炎,Abnormal growth ossification centers in children. Initially a degeneration/ necrosis followed by regeneration or recalcification. ,校对中... +HP:0040189,Scaling skin ,皮肤脱屑,"Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. ",校对中... +HP:0040190,White scaling skin ,白色鳞屑型皮肤, , +HP:0040191,Rectus femoris muscle atrophy ,股四头肌肌肉萎缩, , +HP:0040194,Increased head circumference ,头围增加,An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. ,校对中... +HP:0040195,Decreased head circumference ,头围减小,An abnormally reduced head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. Microcephaly is defined as a head circumference (HC) that is great than two standard deviations below the mean of age- and gender-matched population based samples. Severe microcephaly is defined with an HC that is three standard deviations below the mean. ,校对中... +HP:0040196,Mild microcephaly ,轻度小头畸形,"Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD). ",校对中... +HP:0040197,Encephalomalacia ,脑软化症,"Encephalomalacia is the softening or loss of brain tissue after cerebral infarction, cerebral ischemia, infection, craniocerebral trauma, or other injury. ",校对中... +HP:0040198,Non-medullary thyroid carcinoma ,甲状腺非髓样癌, , +HP:0040201,Simultanapraxia ,失用症,"A subset of motor impersistence, defined as the inability to perform more than two of the simple voluntary acts simultaneously, such as closing the eyes and protruding the tongue. ",校对中... +HP:0040204,Elevated CSF neopterin level ,脑脊液新喋呤水平升高,Increased concentration of neopterin in the cerebrospinal fluid (CSF). ,校对中... +HP:0040206,Abnormal circulating neopterin concentration ,新喋呤水平异常,Any deviation from the normal concentration of neopterin in the blood circulation. ,校对中... +HP:0040209,Decreased CSF biopterin level ,脑脊液生物喋呤水平降低,Decreased concentration of biopterin in the cerebrospinal fluid (CSF). ,校对中... +HP:0040210,Abnormal circulating biopterin concentration ,生物喋呤水平异常,A deviation from the normal concentration of biopterin in the blood circulation. ,校对中... +HP:0040213,Hypopnea ,呼吸浅慢,Hypopnea is referring to breathing that is abnormally shallow. ,校对中... +HP:0040215,Abnormal circulating insulin level ,循环胰岛素水平异常,An abnormal concentration of insulin in the blood. ,校对中... +HP:0040216,Hypoinsulinemia ,低胰岛素血症,A decreased concentration of insulin in the blood. ,校对中... +HP:0040217,Elevated hemoglobin A1c ,糖化血红蛋白水平增高,"An increased concentration of hemoglobin A1c (HbA1c), which is the product of nonenzymatic attachment of a hexose molecule to the N-terminal amino acid of the hemoglobin molecule. This reaction is dependent on blood glucose concentration, and therefore reflects the mean glucose concentration over the previous 8 to 12 weeks. The HbA1c level provides a better indication of long-term glycemic control than one-time blood or urinary glucose measurements. ",校对中... +HP:0040218,Reduced natural killer cell count ,自然杀伤细胞数量减少,"Less than normal number of natural killer cells, a type of lymphocyte in the innate immune system with an ability to mediate cytotoxicity and produce cytokines after the ligation of a germline-encoded activation receptor. ",校对中... +HP:0040219,Absent natural killer cells ,自然杀伤细胞缺如,"Lack of natural killer cells, a type of lymphocyte in the innate immune system that contains cytoplasmic granzymes, i.e., small granules with perforin and proteases that allow natural killer cells to form pores in the cell membrane of the target cell through which the granzymes and associated molecules can enter, inducing apoptosis. ",校对中... +HP:0040221,Hypoplasia of the dental root ,牙根发育不全, , +HP:0040223,Pulmonary hemorrhage ,肺出血,"Pulmonary hemorrhage is a bleeding within the lungs. Older children and adults may spit blood or bloody sputum. Neonates, infants and young children usually do not spit up blood. Anemia, pulmonary infiltrates, increasingling bloody return on BAL and the presence of hemosiderin-laden macrophages in broncho-alveolar lavage (BAL) fluid or lung biopsy can diagnose lung bleeding. Alveolar macrophages contain phagocytosed red blood cells and stain positive for hemosiderin, a product of hemoglobin degradation, after about 48-72 hours following pulmonary hemorraghe. Previous or recurrent bleeding can thus be distinguished from fresh events. A differentiation into local or diffuse is of importance. Also differentiate if pulmonary hemorrhage is due to a primary lung disorder or a manifestation of a systemic disease. ",校对中... +HP:0040228,Decreased level of plasminogen ,纤溶酶原水平下降,A decreased level of Plasminogen ,校对中... +HP:0040230,Decreased level of tissue plasminogen activator ,组织纤溶酶原激活物水平减低,"The tPA protein catalyzes the conversion of plasiminogen to plasmin, and thus break down of clots. When there is a deficiency there will be an increase of thrombosis ",校对中... +HP:0040232,Delayed onset bleeding ,延迟性出血,"Abnormal bleeding related to a procedure or trauma which does not start at the time of the initial insult, but after delay by at least 24 hours. ",校对中... +HP:0040233,Factor XIII subunit A deficiency ,凝血因子XIII A亚基缺陷,"Deficiency of factor XIII subunit A, leading to a reduced factor XIII activity. Activated Factor XIII cross-links fibrin polymers solidifying the clot. ",校对中... +HP:0040235,Leukocyte inclusion bodies ,白细胞包涵体,"The presence of intraceullar inclusion bodies (aggregates of stainable substances, usually proteins) in leukocytes. ",校对中... +HP:0040238,Impaired neutrophil chemotaxis ,中性粒细胞趋化功能受损,An impairment of the migration of neutrophils towards chemoattractants as part of the innate immune response ,校对中... +HP:0040242,Muscle hemorrhage ,肌肉出血,Bleeding occuring within a muscle ,校对中... +HP:0040245,Reduced alpha-2-antiplasmin activity ,α2-抗纤溶酶活性减低,Reduced activity of alpha-2-antiplasmin. This protein inactivates the protease plasmin that drives fibrinolysis. ,校对中... +HP:0040246,Reduced antithrombin antigen ,抗凝血酶抗原减少,Reduced antithrombin antigen. A reduced level of antithrombin may lead to an increased risk of thrombus formation. ,校对中... +HP:0040247,Reduced euglobulin clot lysis time ,优球蛋白凝块溶解时间减少,Abnormally decreased length of time required for an in vitro clot to dissolve in the absence of the normal plasmin inhibitors. This test is a clinical assay used to measure fibrinolysis. The euglobulin fraction of plasma is precipitated and used to form clot by addition of thrombin; after clot forms the rate of clot breakdown (fibrinolysis) can be monitored. ,校对中... +HP:0040248,Reduced plasminogen activator inhibitor 1 activity ,纤溶酶原激活物抑制剂1活性降低,Reduced activity of plasminogen activator inhibitor 1. This protein down-regulates fibrinolysis in the circulation by inhibiting the two major plasminogen activators: tissue-plasminogen activator and urokinase-plasminogen activator. ,校对中... +HP:0040249,Reduced plasminogen activator inhibitor 1 antigen ,纤溶酶原激活物抑制剂1抗原减少,Reduced level of plasminogen activator inhibitor 1 antigen. ,校对中... +HP:0040250,Reduced prothrombin antigen ,凝血酶原抗原减少,Reduced prothrombin antigen as measured by ELISA assay. Prothrombin is a vitamin K-dependent coagulation factor that is proteolytically cleaved to form thrombin. ,校对中... +HP:0040253,Increased size of the clitoris ,阴蒂异常增大, , +HP:0040261,Increased size of nasopharyngeal adenoids ,鼻咽部腺样体肥大,An abnormal increase in the size of nasopharyngeal adenoids. ,校对中... +HP:0040264,Jaw pain ,下颌疼痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the jaw. ",校对中... +HP:0040266,Proximal upper limb muscle hypertrophy ,上肢近端肌肉肥大, , +HP:0040268,Recurrent infections of the middle ear ,中耳反复性感染,"Increased susceptibility to middle ear infections, as manifested by recurrent episodes of middle ear infections ",校对中... +HP:0040270,Impaired glucose tolerance ,葡萄糖耐量下降,"An abnormal resistance to glucose, i.e., a reduction in the ability to maintain glucose levels in the blood stream within normal limits following oral or intravenous administration of glucose. ",校对中... +HP:0040272,Hyperintensity of MRI T2 signal of the spinal cord ,脊髓MRI T2呈高信号,A region of high intensity (brightness) observed upon magnetic resonance imaging (MRI) scans of the spinal cord. ,校对中... +HP:0040274,Adenocarcinoma of the small intestine ,小肠腺癌,A malignant epithelial tumor with a glandular organization that originates in the small intestine. ,校对中... +HP:0040275,Adenocarcinoma of the large intestine ,大肠腺癌,A malignant epithelial tumor with a glandular organization that originates in the large intestine. ,校对中... +HP:0040276,Adenocarcinoma of the colon ,结肠腺癌, , +HP:0040278,Prolactinoma ,泌乳素瘤,A benign tumor (adenoma) of the pituitary gland ,校对中... +HP:0040284,Very rare ,非常罕见的,Present in 1% to 4% of the cases. ,校对中... +HP:0040287,Axial muscle atrophy ,中轴肌萎缩, , +HP:0040288,Nasogastric tube feeding ,鼻胃管灌食,The condition of inability to eat normally treated by placement of a thin tube through the nose into the stomach that is then used to carry food. ,校对中... +HP:0040289,Cyclic neutropenia ,周期性中性粒细胞减少症,Recurrent episodes of abnormally low levels of neutrophils in the body (neutropenia). ,校对中... +HP:0040291,Skeletal muscle steatosis ,骨骼肌脂肪变性, , +HP:0040296,Abnormal location of the eyebrow ,眉毛位置异常, , +HP:0040299,Decreased circulating free fatty acid level ,循环游离脂肪酸水平降低, , +HP:0040301,Increased urinary glycerol ,尿液甘油增高,An increased concentration of glycerol in the urine. ,校对中... +HP:0040303,Decreased serum iron ,血清铁下降, , +HP:0040306,Decreased male libido ,男性性欲低下,Reduced desire for sexual activity on the part of a male. ,校对中... +HP:0040307,Male sexual dysfunction ,男性性功能障碍,A problem occurring during any phase of the male sexual response cycle that prevents the individual from experiencing satisfaction from the sexual activity ,校对中... +HP:0040309,Increased size of the mandible ,下颌骨增大, , +HP:0040310,Sterile arthritis ,无菌性关节炎,"An inflammatory arthritis characterized by purulent synovial fluid with neutrophil accumulation, but with negative cultures. ",校对中... +HP:0040313,Oligoarthritis ,寡关节炎,A type of arthritis that affects up to four joints in the first six months of disease. ,校对中... +HP:0040314,Blind vagina ,盲端阴道,The vagina ends in a blind pouch or sac rather than being connected to the internal genitalia. ,校对中... +HP:0040315,Tongue edema ,舌头水肿,An abnormal accumulation of fluid and swelling in the tongue. ,校对中... +HP:0040318,Red urine ,红色尿液,An abnormal red color of the urine. ,校对中... +HP:0040319,Dark urine ,深色尿液,An abnormal dark color of the urine. ,校对中... +HP:0040320,Red-brown urine ,红棕色尿液,An abnormal red-brown color of the urine. ,校对中... +HP:0040322,Purple urine ,紫色尿液,An abnormal purple color of the urine. ,校对中... +HP:0040326,Hypoplasia of the olfactory bulb ,嗅球发育不全,Underdevelopment of the olfactory bulb. ,校对中... +HP:0040327,Abnormal morphology of the olfactory bulb ,嗅球形态异常,"An abnormal morphology of the olfactory bulb (bulbus olfactorius), which is involved in olfaction, i.e. the sense of smell. ",校对中... +HP:0040328,Focal hyperintensity of cerebral white matter on MRI ,MRI脑白质局灶高信号,An abnormal area of increased brightness (hyperintensity) that is limited to one particular area. ,校对中... +HP:0040329,Multifocal hyperintensity of cerebral white matter on MRI ,多灶性脑白质高信号的MRI表现,An abnormal area of increased brightness (hyperintensity) that occurs in several distinct areas. ,校对中... +HP:0040330,Confluent hyperintensity of cerebral white matter on MRI ,脑白质融合性高信号的MRI表现,Areas of brighter than expected MRI signal in the white matter of the brain whereby individual patches run together. ,校对中... +HP:0040331,Focal hypointensity of cerebral white matter on MRI ,MRI脑白质局灶低信号, , +HP:0040334,Purulent rhinitis ,化脓性鼻炎,Chronic rhinitis accompanied by pus formation. ,校对中... +HP:0041042,Absent neutrophil lactoferrin ,中性粒细胞乳铁蛋白缺乏,"The absence of lactoferrin in neutrophil granules, which could be caused by either an isolated failure of synthesis of this protein (or the production of an antigenically unrecognizable form of lactoferrin) or a complete deficiency of specific granule production. ",校对中... +HP:0041043,Neutrophil nuclear clefts ,中性粒细胞核裂,"An abnormality of the nucleus of neutrophils, which presents as either a type I nuclear cleft, where the nuclear cleft may show a transition into a round/oval shape. The second type nuclear cleft, which runs perpendicular to the nuclear surface, and this type of cleft might be related to nuclear lobe formation. ",校对中... +HP:0041044,Low neutrophil alkaline phosphatase ,中性粒细胞碱性磷酸酶低,"An abnormally reduced level of alkaline phosphatase in neutrophils, which could be due to absence of enzyme or the production of defective enzyme. ",校对中... +HP:0041045,Increased neutrophil mitochondria ,中性粒细胞线粒体增加,An increased number of mitochondria detected in neutrophils. ,校对中... +HP:0041046,未找到信息,-,-,- +HP:0041048,Decreased expression of GPI-anchored proteins on the cell surface ,细胞表面GPI锚定蛋白表达降低,"A decrease in the protein expression fo GPI-anchor proteins, such as CD55 and CD59, at the cell surface, which suggests a defect in GPI-anchor biosynthesis. ",校对中... +HP:0041059,Chronic (near) absent circulating IgG4 ,血液IgG4持续性（接近）缺乏,"A lasting absence of immunoglobulin G4 (IgG4) in the blood, whereby at most trace quantities of IgG4 can be measured. ",校对中... +HP:0041070,Chronic partially decreased circulating IgG1 ,血液IgG1持续性部分降低,A lasting limited decrease of immunoglobulin G1 (IgG1) in the blood. ,校对中... +HP:0041159,Fractured rib ,肋骨骨折,A partial or complete breakage of the rib. ,校对中... +HP:0045005,Neural tube defect ,神经管缺损,"A neural tube defect arises when the neural tube, the embryonic precursor of the brain and spinal cord, fails to close during neurulation. The cranial region (anencephaly) or the low spine (open spina bifida; myelomeningocele) are most commonly affected although, in the severe NTD craniorachischisis, almost the entire neural tube remains open, from midbrain to low spine. ",校对中... +HP:0045007,Abnormal substantia nigra morphology ,黑质形态异常,"A structural anomaly of the substantia nigra, which is a midbrain dopaminergic nucleus which has a critical role in modulating motor movement and reward functions as part of the basal ganglia circuitry. ",校对中... +HP:0045014,Hypolipidemia ,低脂血症, , +HP:0045017,Congenital malformation of the left heart ,先天性左心畸形,Defect or defects of the morphogenesis of the left heart identifiable at birth. ,校对中... +HP:0045025,Narrow palpebral fissure ,小睑裂,Reduction in the vertical distance between the upper and lower eyelids. ,校对中... +HP:0045026,Abnormality of the mediastinum ,纵膈异常, , +HP:0045027,Abnormality of the thoracic cavity ,胸廓异常, , +HP:0045028,Microlissencephaly ,小头畸形-无脑回畸形,"Severe microcephaly and lissencephaly with granular surfaces with immature cortical plate, reduced in thickness, with focal polymicrogyria and immature small neurons with rare processes, intermingled with a considerable number of glial elements. ",校对中... +HP:0045037,Abnormality of jaw muscles ,下颌肌肉异常, , +HP:0045038,Gastric lymphoma ,胃淋巴瘤,Lymphoma that originates in the stomach itself. ,校对中... +HP:0045040,Abnormal lactate dehydrogenase level ,乳酸脱氢酶活性异常,"A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate. ",校对中... +HP:0045042,Decreased serum complement C4 ,血清补体C4减少,A reduced level of the complement component C4 in the circulation. ,校对中... +HP:0045044,Decreased serum complement C4b ,血清补体 C4b 降低,A reduced level of the complement component C4b in circulation. ,校对中... +HP:0045045,Elevated circulating acylcarnitine concentration ,血浆酰基肉碱水平升高,"An abnormally increased concentration in the blood circulation of acylcarnitine, which is produced by reversible esterification of the 3-hydroxyl group of carnitine. ",校对中... +HP:0045046,Reduced insulin like growth factor binding protein acid labile subunit level ,酸性不稳定亚基水平降低,Blood concentration of insulin like growth factor binding protein acid labile subunit level below normal limits. ,校对中... +HP:0045047,HbS hemoglobin ,血红蛋白S,Presence of an abnormal type of hemoglobin characterized by the subsitution of a glutamic acid residue at position 7 following the initial methionine residue by a valine (the mutation causative of sickle cell disease). The mutation promotes the polymerization of the HbS under conditions of low oxygen concentration. HbS can be identified by multiple methodologies including hemoglobin electrophoresis and high-performance liquid chromatography. ,校对中... +HP:0045048,Increased HbA2 hemoglobin ,血红蛋白HbA2增多,"An elevated concentration in the blood of hemoglobin A2 (HbA2), which is a normal variant of hemoglobin A that consists of two alpha and two delta chains and is normally present at low levels in adults but may be increased in beta thalassemia. ",校对中... +HP:0045051,Decreased DLCO ,一氧化碳弥散量减少,Reduced ability of the lungs to transfer gas from inspired air to the bloodstream as measured by the diffusing capacity of the lungs for carbon monoxide (DLCO) test. ,校对中... +HP:0045052,Abnormality of the brachial nerve plexus ,臂神经丛异常,Any abnormality of the brachial nerve plexus. ,校对中... +HP:0045054,Brachial plexus neuropathy ,臂丛神经病变, , +HP:0045055,Tiger tail banding ,老虎尾巴带,"An abnormal appearance of hair under polarizing microscopy (using crossed polarizers), whereby hair shafts show striking alternating bright and dark bands, often referred to as tiger tail banding. ",校对中... +HP:0045057,Decreased levels of alpha-fetoprotein ,甲胎蛋白水平下降,A decrease in the concentration of alpha-fetoprotein in the blood circulation. ,校对中... +HP:0045059,Hyperkeratotic papule ,角化过度性丘疹,"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point that is composed of localized hyperkeratosis (the latter may be demonstrated histopathologically). ",校对中... +HP:0045060,Aplasia/hypoplasia involving bones of the extremities ,四肢骨发育不良/发育不全, , +HP:0045061,Decreased carnitine level in liver ,肝脏肉碱水平下降, , +HP:0045073,Serositis ,浆膜腔炎症,Inflammation in any serous cavity. ,校对中... +HP:0045074,Thin eyebrow ,细眉,Decreased diameter of eyebrow hairs. ,校对中... +HP:0045075,Sparse eyebrow ,疏眉,Decreased density/number of eyebrow hairs. ,校对中... +HP:0045079,Distal femoral metaphyseal irregularity ,股骨远端干骺端不规则,Irregularity of the normally smooth surface of the distal metaphysis of the femur. ,校对中... +HP:0045080,Decreased proportion of CD3-positive T cells ,CD3+T细胞比例减低,Any abnormality in the proportion of CD3-positive T cells relative to the total number of T cells. ,校对中... +HP:0045082,Decreased body mass index ,体重指数下降,"Abnormally decreased weight-to-height squared ratio, calculated by dividing the individual's weight in kilograms by the square of the individual's height in meters and used as an indicator of underweight compared to averages. ",校对中... +HP:0045084,Limb myoclonus ,肢体肌阵挛, , +HP:0045086,Knee joint hypermobility ,膝关节过度伸展,"The ability of the knee to move past its normal range of motion, (knee hyperextension is greater than 10 degrees). ",校对中... +HP:0045087,Hip joint hypermobility ,髋关节过度伸展, , +HP:0046505,Hand pain ,手部疼痛,An unpleasant sensation characterized by physical discomfort localized to the hand. ,校对中... +HP:0100000,Early onset of sexual maturation ,早发性成熟,"An early onset of puberty, in this case early does not refer to precocious. ",校对中... +HP:0100001,Malignant mesothelioma ,恶性间皮瘤,"Malignant mesothelioma is a form of cancer that originates from the cells of the mesothelium, a thin tissue layer surrounding the body's internal organs. Malignant mesothelioma is almost exclusively caused by asbestos exposure, pleural mesothelioma beeing the most common form, affecting the lining of the lungs called the pleura. Other forms such as perioneal-, percardial- or testicular- mesothelioma are much rarer. ",校对中... +HP:0100006,Neoplasm of the central nervous system ,中枢神经系统的肿瘤,A neoplasm of the central nervous system. ,校对中... +HP:0100008,Schwannoma ,神经鞘瘤,A benign nerve sheath tumor composed of Schwann cells. ,校对中... +HP:0100009,Intracranial meningioma ,颅内脑膜瘤, , +HP:0100010,Spinal meningioma ,脊膜瘤, , +HP:0100012,Neoplasm of the eye ,眼肿瘤,A tumor (abnormal growth of tissue) of the eye. ,校对中... +HP:0100013,Neoplasm of the breast ,乳腺肿瘤,A tumor (abnormal growth of tissue) of the breast. ,校对中... +HP:0100014,Epiretinal membrane ,视网膜前膜,"An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy. ",校对中... +HP:0100015,Stahl ear ,Stahl耳畸形,"The presence of a supernumerary, i.e. third, crus of the helix in the helix, arising at or above the normal bifurcation of the antihelix. ",校对中... +HP:0100016,Abnormality of mesentery morphology ,肠系膜形态异常,"Folds of membranous tissue (peritoneum, mesothelium) attached to the wall of the abdomen and enclosing viscera. Examples include the mesentery for the small intestine; the transverse mesocolon, which attaches the transverse portion of the colon to the back wall of the abdomen; and the mesosigmoid, which enfolds the sigmoid portion of the colon. Cells of the same embryologic origin also surround the other organs of the body such as the lungs (pleura) or the heart (pericardium). ",校对中... +HP:0100018,Nuclear cataract ,核性白内障,"A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown. ",校对中... +HP:0100019,Cortical cataract ,皮质性白内障,"A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance. ",校对中... +HP:0100020,Posterior capsular cataract ,后囊型白内障,A cataract which is found in the back outer layer of the lens. This type often develops more rapidly. ,校对中... +HP:0100021,Cerebral palsy ,脑瘫,"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems. ",校对中... +HP:0100022,Abnormality of movement ,运动异常,An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements. ,校对中... +HP:0100023,Recurrent hand flapping ,反复用手拍打,A type of stereotypic behavior in which the affected individual repeatedly waves the hands up and down. ,校对中... +HP:0100024,Conspicuously happy disposition ,显着快乐的性格,"An unusually happy aspect over time which can also may be observed during inappropriate situations that should be causing for example distress, fear or anger. ",校对中... +HP:0100025,Overfriendliness ,过度友善,A form of hypersociability that presents as mostly inappropriate people-orientation and friendliness towards others on an inadequate level which might go as far as being dangerous considering for example young children following strangers without restriction. ,校对中... +HP:0100026,Arteriovenous malformation ,动静脉畸形,An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries. ,校对中... +HP:0100027,Recurrent pancreatitis ,复发性胰腺炎,A recurrent form of pancreatitis. ,校对中... +HP:0100028,Ectopic thyroid ,异位甲状腺,Mislocalised thyroid gland. ,校对中... +HP:0100031,Neoplasm of the thyroid gland ,甲状腺肿瘤,A tumor (abnormal growth of tissue) of the thyroid gland. ,校对中... +HP:0100033,Tics ,抽动症,"Repeated, individually recognizable, intermittent movements or movement fragments that are almost always briefly suppresable and are usually associated with awareness of an urge to perform the movement. ",校对中... +HP:0100034,Motor tics ,运动抽动,Movement-based tics affecting discrete muscle groups. ,校对中... +HP:0100035,Phonic tics ,声音抽搐,"Involuntary sounds produced by moving air through the nose, mouth, or throat. The vocal cords are not involved in all tics that produce sound. ",校对中... +HP:0100036,Pseudo-fractures ,假骨折,A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. Callus formation in the affected area is common and gives the appearance of a false fracture. ,校对中... +HP:0100038,Slow-growing scalp hair ,头发生长缓慢,Scalp hair whose growth is slower than normal. ,校对中... +HP:0100040,Broad 2nd toe ,第二趾变宽,A broad appearance of the second toe. ,校对中... +HP:0100168,Fragmented epiphyses ,骨骺碎裂,Fragmented appearance of the epiphyses. ,校对中... +HP:0100240,Synostosis of joints ,关节骨性联接,The abnormal fusion of neighboring bones across a joint. ,校对中... +HP:0100242,Sarcoma ,肉瘤,A connective tissue neoplasm formed by proliferation of mesodermal cells. Bone and soft tissue sarcomas are the main types of sarcoma. Sarcoma is usually highly malignant. ,校对中... +HP:0100244,Fibrosarcoma ,纤维肉瘤,A fibroblastic sarcoma is a malignant tumor derived from fibrous connective tissue and characterized by immature proliferating fibroblasts or undifferentiated anaplastic spindle cells. ,校对中... +HP:0100245,Desmoid tumors ,硬性纤维瘤,"Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine. ",校对中... +HP:0100246,Osteoma ,骨瘤,"Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant. ",校对中... +HP:0100247,Recurrent singultus ,反复性嗝逆,"A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into the lungs causes the epiglottis to close, creating a hic sound. Also known as synchronous diaphragmatic flutter (SDF), or singultus, from the Latin singult, the act of catching one's breath while sobbing. The hiccup is an involuntary action involving a reflex arc. ",校对中... +HP:0100248,Hemiballismus ,偏侧投掷/偏侧投掷症,"Hemiballismus is a rare movement disorder that is caused primarily by damage to various areas in the basal ganglia. Hemiballismus is usually characterized by involuntary flinging motions of the extremities. The movements are often violent and have wide amplitudes of motion. They are continuous and random and can involve proximal and/or distal muscles on one side of the body, while some cases even include the facial muscles. The more a patient is active, the more the movements increase. With relaxation comes a decrease in movements. ",校对中... +HP:0100250,Meningeal calcification ,脑膜钙化,Calcium deposition affecting the Meninges. ,校对中... +HP:0100251,Multiple central nervous system lipomas ,多发中枢神经系统脂肪瘤,The presence of mulitple lipomas located in the central nervous system. ,校对中... +HP:0100252,Diaphyseal dysplasia ,骨干发育不良, , +HP:0100253,Abnormality of the medullary cavity of the long bones ,长骨髓腔异常,"An abnormality of the medullary cavity (medulla, innermost part), which is the central cavity of bone shafts where red bone marrow and/or yellow bone marrow (adipose tissue) is stored. ",校对中... +HP:0100254,Stenosis of the medullary cavity of the long bones ,长骨髓腔狭窄, , +HP:0100255,Metaphyseal dysplasia ,干骺端发育不良,The presence of dysplastic regions in metaphyseal regions. ,校对中... +HP:0100256,Senile plaques ,老年斑,Senile plaques are extracellular deposits of amyloid in the gray matter of the brain. ,校对中... +HP:0100257,Ectrodactyly ,缺趾/指畸形,A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. ,校对中... +HP:0100258,Preaxial polydactyly ,轴前多指（趾）,A form of polydactyly in which the extra digit or digits are localized on the side of the thumb or great toe. ,校对中... +HP:0100259,Postaxial polydactyly ,轴后多指（趾）,A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe. ,校对中... +HP:0100260,Mesoaxial polydactyly ,中轴多指（趾）,The presence of a supernumerary finger or toe (not a thumb or hallux) involving the third or fourth metacarpal/tarsal with associated osseous syndactyly. ,校对中... +HP:0100261,Abnormal tendon morphology ,肌腱形态异常,"An abnormality of the structure or form of the tendons, also often called sinews. ",校对中... +HP:0100263,Distal symphalangism ,远端指关节融合, , +HP:0100264,Proximal symphalangism ,近端指关节融合, , +HP:0100266,Synostosis of carpals/tarsals ,腕骨（跗骨）间的骨性联接,"The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus. ",校对中... +HP:0100267,Lip pit ,唇点凹,A depression located on a lip. ,校对中... +HP:0100268,Upper lip pit ,上唇点凹,"Depression located on the vermilion of the upper lip, usually paramedian. ",校对中... +HP:0100271,Hyponasal speech ,鼻音低,Hyponasal speech is when there is an abnormally reduced nasal airflow during speech often in a setting of nasal obstruction or congestion. ,校对中... +HP:0100273,Neoplasm of the colon ,结肠新生物, , +HP:0100274,Gustatory lacrimation ,味觉流泪,Gustatory lacrimation results from an aberrant innervation of fibres from the seventh cranial nerve to the pterygopalatine ganglion which are destined originally for the submandibular ganglion. This aberrant innervation leads to uncontrollable tearing while eating or in anticipation of a meal. ,校对中... +HP:0100275,Diffuse cerebellar atrophy ,弥漫性小脑萎缩,Diffuse unlocalised atrophy affecting the cerebellum. ,校对中... +HP:0100277,Periauricular skin pits ,耳周皮肤点凹,Benign congenital lesions of the periauricular soft tissue consisting of a blind-ending narrow tube or pit. ,校对中... +HP:0100279,Ulcerative colitis ,溃疡性结肠炎,"A chronic inflammatory bowel disease that includes characteristic ulcers, or open sores, in the colon. The main symptom of active disease is usually constant diarrhea mixed with blood, of gradual onset and intermittent periods of exacerbated symptoms contrasting with periods that are relatively symptom-free. In contrast to Crohn's disease this special form of colitis begins in the distal parts of the rectum, spreads continually upwards and affects only mucose and submucose tissue of the colon. ",校对中... +HP:0100280,Crohn's disease ,克罗恩氏病,"A chronic granulomatous inflammatory disease of the intestines that may affect any part of the gastrointestinal tract from mouth to anus, causing a wide variety of symptoms. It primarily causes abdominal pain, diarrhea which may be bloody, vomiting, or weight loss, but may also cause complications outside of the gastrointestinal tract such as skin rashes, arthritis, inflammation of the eye, tiredness, and lack of concentration. Crohn's disease is thought to be an autoimmune disease, in which the body's immune system attacks the gastrointestinal tract, causing inflammation. ",校对中... +HP:0100284,EMG: myotonic discharges ,肌电图:肌强直性放电,"High frequency discharges in electromyography (EMG) that vary in amplitude and frequency, waxing and waning continuously with firing frequencies ranging from 150/second down to 20/second and producing a sound that has been referred to as a dive bomber sound. ",校对中... +HP:0100285,EMG: impaired neuromuscular transmission ,肌电图:神经肌肉接头传递受损,"An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP). ",校对中... +HP:0100287,EMG: slow motor conduction ,肌电图:运动传导慢,The presence of reduced conduction velocity of motor nerves on electromyography. ,校对中... +HP:0100288,EMG: myokymic discharges ,肌电图:肌纤维颤搐放电,The presence of spontaneous bursts of rapidly firing potentials that recur at regular intervals of 2-10 per second and are unaffected by voluntary effort. This is an electromyographic (EMG) finding. ,校对中... +HP:0100290,Abnormality of peripheral somatosensory evoked potentials ,周围体感诱发电位异常, , +HP:0100291,Abnormality of central somatosensory evoked potentials ,异常的中枢体感诱发电位, , +HP:0100292,Amyloidosis of peripheral nerves ,周围神经的淀粉样变性病,The presence of amyloid deposition in the nerves of the peripheral nervous system. ,校对中... +HP:0100293,Muscle fiber hypertrophy ,肌纤维肥厚, , +HP:0100295,Muscle fiber atrophy ,肌纤维萎缩, , +HP:0100297,Increased endomysial connective tissue ,肌内膜结缔组织增加,"An increased volume of the endomysium, which is a connective tissue sheath that surrounds each muscule fiber. Together, bundles of muscle fibers form a fasciculus, surrounded by another layer of connective tissue called the perimysium. ",校对中... +HP:0100299,Muscle fiber inclusion bodies ,肌纤维包涵体, , +HP:0100301,Muscle fiber tubular inclusions ,肌纤维管状包涵体,"Unusual regions of densely packed membranous tubules known as tubular aggregates which present as membranous inclusions, derived from membranes of sarcoplasmic reticulum and mitochondria, containing miscellaneous proteins with a variety of enzymatic activities. ",校对中... +HP:0100303,Muscle fiber cytoplasmatic inclusion bodies ,肌纤维胞质包涵体,"The presence of inclusion bodies within the cytoplasm of muscle cells. Inclusion bodies are aggregates (deposits) or stainable material, usually misfolded proteins. ",校对中... +HP:0100307,Cerebellar hemisphere hypoplasia ,小脑半球发育不全, , +HP:0100308,Cerebral cortical hemiatrophy ,大脑皮层偏侧萎缩,"Atrophy of one side of the brain, characterized by findings including thinning of the cerebral cortex, reduced volume of the cerebral white matter with abnormal myelination, and enlargement of the ispilateral fourth ventricle. ",校对中... +HP:0100309,Subdural hemorrhage ,硬膜下出血,Hemorrhage occurring between the dura mater and the arachnoid mater. ,校对中... +HP:0100310,Epidural hemorrhage ,硬膜外出血,Hemorrhage occurring between the dura mater and the skull. ,校对中... +HP:0100315,Lewy bodies ,路易体, , +HP:0100318,Lafora bodies ,小体,An intraneuronal inclusion body composed of acid mucopolysaccharides. ,校对中... +HP:0100321,Abnormal dentate nucleus morphology ,齿状核形态异常,An abnormality of the dentate nucleus. ,校对中... +HP:0100324,Scleroderma ,硬皮病,A chronic autoimmune phenomenon characterized by fibrosis (or hardening) and vascular alterations of the skin. ,校对中... +HP:0100326,Immunologic hypersensitivity ,免疫过敏,Immunological states where the immune system produces harmful responses upon reexposure to sensitising antigens. ,校对中... +HP:0100327,Cow milk allergy ,牛奶过敏,Hypersensitivity in form of an adverse immune reaction against cow milk protein. ,校对中... +HP:0100333,Unilateral cleft lip ,单侧唇裂,A non-midline cleft of the upper lip on one side only. ,校对中... +HP:0100334,Unilateral cleft palate ,单侧腭裂, , +HP:0100335,Non-midline cleft lip ,非中线唇裂,Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region. ,校对中... +HP:0100336,Bilateral cleft lip ,双侧唇裂,A non-midline cleft of the upper lip on the left and right sides. ,校对中... +HP:0100337,Bilateral cleft palate ,双侧腭裂,Nonmidline cleft palate on the left and right sides. ,校对中... +HP:0100345,Tibial deviation of the 2nd toe ,第二趾胫侧偏移, , +HP:0100347,Tibial deviation of the 5th toe ,第五趾胫侧偏移, , +HP:0100348,Contracture of the proximal interphalangeal joint of the 2nd toe ,第二趾近端趾间关节挛缩,The proximal interphalangeal joint of the 2nd toe cannot be straightened actively or passively. ,校对中... +HP:0100349,Contracture of the proximal interphalangeal joint of the 3rd toe ,第三趾近端趾间关节挛缩,The proximal interphalangeal joint of the 3rd toe cannot be straightened actively or passively. ,校对中... +HP:0100350,Contracture of the proximal interphalangeal joint of the 4th toe ,第四趾近端趾间关节挛缩,The proximal interphalangeal joint of the 4th toe cannot be straightened actively or passively. ,校对中... +HP:0100360,Contractures of the joints of the upper limbs ,上肢关节挛缩, , +HP:0100362,Aplasia of the phalanges of the 3rd toe ,第三趾趾骨发育不全, , +HP:0100380,Aplasia of the distal phalanx of the 5th toe ,第五趾末节趾骨发育不全, , +HP:0100387,Aplasia of the middle phalanges of the toes ,中节趾骨发育不全, , +HP:0100391,Short distal phalanx of the 5th toe ,第五趾末节趾骨短,Developmental hypoplasia of the distal phalanx of little toe. ,校对中... +HP:0100394,Short middle phalanx of the 5th toe ,第五趾中节趾骨短,Developmental hypoplasia of the middle phalanx of the 5th toe. ,校对中... +HP:0100481,Proximal/middle symphalangism of 4th toe ,第四趾近节/中节趾关节融合,Bony fusion of the middle and proximal phalanges of the 4th toe. ,校对中... +HP:0100482,Proximal/middle symphalangism of 5th toe ,第五趾近节/中节趾关节融合,Bony fusion of the middle and proximal phalanges of the 5th toe. ,校对中... +HP:0100490,Camptodactyly of finger ,手指弯曲,The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension. ,校对中... +HP:0100491,Abnormality of lower limb joint ,下肢关节异常, , +HP:0100492,Joint contractures involving the joints of the feet ,脚趾关节挛缩,Contractures of one ore more joints of the feet meaning chronic loss of joint motion due to structural changes in non-bony tissue. ,校对中... +HP:0100493,Hypoammonemia ,低血氨,A decreased concentration of ammonia in the blood. ,校对中... +HP:0100494,Abnormal mast cell morphology ,肥大细胞形态异常,"Any structural anomaly of mast cells, which are found in almost all tissues and contain numerous basophilic granules and are capable of releasing large amounts of histamine and heparin upon activation. ",校对中... +HP:0100499,Tibial deviation of toes ,脚趾胫侧偏移, , +HP:0100501,Recurrent bronchiolitis ,复发性毛细支气管炎,An increased susceptibility to bronchiolitis as manifested by a history of recurrent bronchiolitis. ,校对中... +HP:0100502,Vitamin B12 deficiency ,维生素B12缺乏症, , +HP:0100503,Low levels of vitamin B1 ,维生素B1缺乏症,A reduced concentration of vitamin B1. ,校对中... +HP:0100504,Low levels of vitamin B2 ,维生素B2缺乏症,A reduced concentration of vitamin B2. ,校对中... +HP:0100507,Reduced blood folate concentration ,叶酸缺乏症,"A reduced circulating concentration of folic acid, which is also known as vitamin B9. ",校对中... +HP:0100508,Abnormality of vitamin metabolism ,维生素代谢异常,An anomaly in the metabolism of a vitamin. ,校对中... +HP:0100511,Abnormality of vitamin D metabolism ,维生素D代谢异常, , +HP:0100512,Low levels of vitamin D ,维生素D缺乏症,A reduced concentration of Vitamin D. ,校对中... +HP:0100513,Low levels of vitamin E ,维生素E缺乏症,A reduced concentration of vitamin E in the blood circulation. Vitamin E is a lipophilic vitamin that is also known as alpha-tocopherol. ,校对中... +HP:0100514,Abnormality of vitamin E metabolism ,维生素E代谢异常, , +HP:0100515,Pollakisuria ,尿频,Increased frequency of urination. ,校对中... +HP:0100517,Neoplasm of the urethra ,尿道肿瘤,The presence of a neoplasm of the urethra. ,校对中... +HP:0100518,Dysuria ,排尿困难,Painful or difficult urination. ,校对中... +HP:0100519,Anuria ,无尿症,"Absence of urine, clinically classified as below 50ml/day. ",校对中... +HP:0100520,Oliguria ,少尿症,"Low output of urine, clinically classified as an output below 300-500ml/day. ",校对中... +HP:0100521,Neoplasm of the thymus ,胸腺肿瘤,A tumor (abnormal growth of tissue) of the thymus. ,校对中... +HP:0100522,Thymoma ,胸腺瘤,A tumor originating from the epithelial cells of the thymus. ,校对中... +HP:0100523,Liver abscess ,肝脓肿,The presence of an abscess of the liver. ,校对中... +HP:0100524,Limb duplication ,肢体重复,Congenital duplication of all or part of a limb. ,校对中... +HP:0100526,Neoplasm of the lung ,肺部肿瘤,Tumor of the lung. ,校对中... +HP:0100527,Neoplasia of the pleura ,胸膜肿瘤, , +HP:0100528,Pleuropulmonary blastoma ,胸膜肺母细胞瘤,A rare cancer originating in the lung or pleural cavity that occurs most often in infants and young children but also has been reported in adults. Pleuropulmonary blastoma is regarded as malignant. ,校对中... +HP:0100530,Abnormal calcium-phosphate regulating hormone level ,磷酸盐和钙的调节激素异常,Any deviation from the normal concentration in the blood circulation of a hormone that is involved in the regulation of phosphate and calcium. ,校对中... +HP:0100531,Wind-swept deformity of the knees ,双膝同向侧弯,The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. ,校对中... +HP:0100532,Scleritis ,巩膜炎,Inflammation of the sclera. ,校对中... +HP:0100533,Inflammatory abnormality of the eye ,眼睛的炎性异常,"Inflammation of the eye, parts of the eye or the periorbital region. ",校对中... +HP:0100534,Episcleritis ,巩膜外层炎,"Inflammation of the episclera, a thin layer of tissue covering the white part (sclera) of the eye. ",校对中... +HP:0100537,Fasciitis ,筋膜炎,"Inflammation of fascia, the tissue under the skin and over the muscle. ",校对中... +HP:0100539,Periorbital edema ,眶周水肿,Edema affecting the region situated around the orbit of the eye. ,校对中... +HP:0100540,Palpebral edema ,眼睑水肿,Edema in the region of the eyelids. ,校对中... +HP:0100541,Femoral hernia ,股疝,"A hernia which occurs just below the inguinal ligament, where abdominal contents pass through a naturally occurring weakness called the femoral canal. ",校对中... +HP:0100542,Abnormal localization of kidney ,肾脏位置异常,An abnormal site of the kidney. ,校对中... +HP:0100543,Cognitive impairment ,认知功能损害,"Abnormal cognition with deficits in thinking, reasoning, or remembering. ",校对中... +HP:0100544,Neoplasm of the heart ,心脏肿瘤,A tumor (abnormal growth of tissue) of the heart. ,校对中... +HP:0100545,Arterial stenosis ,动脉狭窄,Narrowing or constriction of the inner surface (lumen) of an artery. ,校对中... +HP:0100546,Carotid artery stenosis ,颈动脉狭窄,Narrowing of the carotid arteries. ,校对中... +HP:0100550,Tendon rupture ,肌腱断裂,Breakage (tear) of a tendon. ,校对中... +HP:0100553,Hemihypertrophy of lower limb ,下肢偏身肥大,Overgrowth of only one leg. ,校对中... +HP:0100555,Asymmetric growth ,不对称生长,A growth pattern that displays an abnormal difference between the left and the right side. ,校对中... +HP:0100556,Hemiatrophy ,偏侧萎缩,Undergrowth of the limbs that affects only one side. ,校对中... +HP:0100558,Hemiatrophy of upper limb ,上肢偏侧萎缩,Unilateral atrophy (reduction in size) of an arm. ,校对中... +HP:0100559,Lower limb asymmetry ,下肢不对称,A difference in length or diameter between the left and right leg. ,校对中... +HP:0100560,Upper limb asymmetry ,上肢不对称,Difference in length or size between the right and left arm. ,校对中... +HP:0100561,Spinal cord lesion ,脊髓病变, , +HP:0100569,Abnormally ossified vertebrae ,椎骨异常骨化,An abnormality of the formation and mineralization of one or more vertebrae. ,校对中... +HP:0100570,Carcinoid tumor ,类癌,A tumor formed from the endocrine (argentaffin) cells of the mucosal lining of a variety of organs including the stomach and intestine. These cells are from neuroectodermal origin. ,校对中... +HP:0100571,Cardiac diverticulum ,心脏憩室,A cardiac diverticulum is a rare congenital malformation which is either fibrous or muscular. ,校对中... +HP:0100574,Biliary tract neoplasm ,胆管新生物,A tumor (abnormal growth of tissue) of the biliary system. ,校对中... +HP:0100575,Neoplasm of the gallbladder ,胆囊新生物,The presence of a neoplasm of the gallbladder. ,校对中... +HP:0100576,Amaurosis fugax ,一时性黑蒙,"A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition. ",校对中... +HP:0100577,Urinary bladder inflammation ,膀胱炎,Inflammation of the urinary bladder. ,校对中... +HP:0100578,Lipoatrophy ,脂肪萎缩,Localized loss of fat tissue. ,校对中... +HP:0100579,Mucosal telangiectasiae ,粘膜毛细血管扩张,"Telangiectasia of the mucosa, the mucous membranes which are involved in absorption and secretion that line cavities that are exposed to the external environment and internal organs. ",校对中... +HP:0100580,Barrett esophagus ,Barrett食管,An abnormal change (metaplasia) in the cells of the inferior portion of the esophagus. The normal squamous epithelium lining of the esophagus is replaced by metaplastic columnar epithelium. Columnar epithelium refers to a cell type that is typically found in more distal parts of the gastrointestinal system. ,校对中... +HP:0100581,Dilatation of renal calices ,肾盏扩张,"An abnormal enlargement of the renal calices, the system of ducts of the kidney that collect urine. ",校对中... +HP:0100582,Nasal polyposis ,鼻息肉,Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. ,校对中... +HP:0100583,Corneal perforation ,角膜穿孔,A rupture of the cornea through which a portion of the iris protrudes. ,校对中... +HP:0100584,Endocarditis ,心内膜炎,"An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves. ",校对中... +HP:0100585,Telangiectasia of the skin ,皮肤毛细血管扩张,"Presence of small, permanently dilated blood vessels near the surface of the skin, visible as small focal red lesions. ",校对中... +HP:0100587,Abnormal preputium morphology ,包皮形态异常,An abnormality of the retractable fold of skin that covers the tip of the penis. ,校对中... +HP:0100589,Urogenital fistula ,泌尿生殖道瘘,The presence of a fistula affecting the genitourinary system. ,校对中... +HP:0100592,Peritoneal abscess ,腹膜脓肿,The presence of an abscess of the peritoneum. ,校对中... +HP:0100593,Calcification of cartilage ,软骨钙化, , +HP:0100595,Camptocormia ,驼背,"An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders. ",校对中... +HP:0100596,Absent nares ,无鼻孔,The nostrils (the paired channels of the nose) are not present. ,校对中... +HP:0100598,Pulmonary edema ,肺水肿,Fluid accumulation in the lungs. ,校对中... +HP:0100601,Eclampsia ,子痫,"An acute and life-threatening complication of pregnancy, which is characterized by the appearance of tonic-clonic seizures, usually in a patient who had developed pre-eclampsia. Eclampsia includes seizures and coma that happen during pregnancy but are not due to preexisting or organic brain disorders. ",校对中... +HP:0100602,Preeclampsia ,先兆子痫,Pregnancy-induced hypertension in association with significant amounts of protein in the urine. ,校对中... +HP:0100603,Toxemia of pregnancy ,妊娠毒血症,Pregnancy-induced toxic reactions of the mother that can be as harmless as slight Maternal hypertension or as life threatening as Eclampsia. ,校对中... +HP:0100605,Neoplasm of the larynx ,喉部肿瘤, , +HP:0100607,Dysmenorrhea ,痛经,Pain during menstruation that interferes with daily activities. ,校对中... +HP:0100608,Metrorrhagia ,子宫出血,Bleeding at irregular intervals. ,校对中... +HP:0100611,Multiple glomerular cysts ,多发性肾小球囊肿,The presence of many cysts in the glomerulus of the kidney related to dilatation of the Bowman's capsule. ,校对中... +HP:0100612,Odontogenic neoplasm ,牙源性肿瘤,"Neoplasm involving odontogenic cells, an odontogenic tumor. ",校对中... +HP:0100613,Death in early adulthood ,成年早期死亡,Death between the age of 16 and 40 years. ,校对中... +HP:0100614,Myositis ,肌炎,A general term for inflammation of the muscles without respect to the underlying cause. ,校对中... +HP:0100615,Ovarian neoplasm ,卵巢肿瘤,A tumor (abnormal growth of tissue) of the ovary. ,校对中... +HP:0100617,Testicular seminoma ,睾丸精原细胞瘤,"The presence of a seminoma, an undifferentiated germ cell tumor of the testis. ",校对中... +HP:0100618,Leydig cell neoplasia ,莱迪细胞瘤,The presence of a neoplasm of the testis with origin in a Leydig cell. ,校对中... +HP:0100619,Sertoli cell neoplasm ,睾丸支持细胞瘤,The presence of a neoplasm of the testis with origin in a Sertoli cell. ,校对中... +HP:0100621,Dysgerminoma ,无性细胞瘤,"The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary. ",校对中... +HP:0100625,Enlarged thorax ,胸廓扩张, , +HP:0100626,Chronic hepatic failure ,慢性肝功能衰竭, , +HP:0100627,Displacement of the urethral meatus ,尿道外口异位,"A displacement of the external urethral orifice from its normal position (in males normally placed at the tip of glans penis, in females normally placed about 2.5 cm behind the glans clitoridis and immediately in front of that of the vagina). ",校对中... +HP:0100628,Esophageal diverticulum ,食管憩室,The presence of a diverticulum of the esophagus. ,校对中... +HP:0100630,Neoplasia of the nasopharynx ,鼻咽部肿瘤, , +HP:0100631,Neoplasm of the adrenal gland ,肾上腺肿瘤,A tumor (abnormal growth of tissue) of the adrenal gland. ,校对中... +HP:0100632,Pulmonary sequestration ,肺隔离症,The presence of a piece lung tissue which is not attached to the pulmonary blood supply and does not communicate with the other lung tissue (not connected to the standard bronchial airways and not performing a function in respiration). ,校对中... +HP:0100633,Esophagitis ,食管炎,Inflammation of the esophagus. ,校对中... +HP:0100634,Neuroendocrine neoplasm ,神经内分泌肿瘤,A tumor that originates from a neuroendocrine cell. ,校对中... +HP:0100638,Neoplasm of the pharynx ,咽喉瘤,A neoplasm originating in the pharynx. ,校对中... +HP:0100639,Erectile dysfunction ,勃起功能障碍,"A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological. ",校对中... +HP:0100641,Neoplasm of the adrenal cortex ,肾上腺皮质肿瘤,The presence of a neoplasm of the adrenal cortex. ,校对中... +HP:0100643,Abnormality of nail color ,指（趾）甲颜色异常,An anomaly of the color of the nail. ,校对中... +HP:0100644,Melanonychia ,黑甲,Brown or black discoloration of the nails. ,校对中... +HP:0100645,Cystocele ,膀胱膨出,Anterior vaginal wall prolapse with bulging of the bladder into the vagina. ,校对中... +HP:0100646,Thyroiditis ,甲状腺炎,Inflammation of the thyroid gland. ,校对中... +HP:0100647,Graves disease ,Graves病,"An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients. ",校对中... +HP:0100648,Neoplasm of the tongue ,舌瘤,A tumor (abnormal growth of tissue) of the tongue. ,校对中... +HP:0100649,Neoplasm of the oral cavity ,口腔肿瘤,A tumor (abnormal growth of tissue) of the oral cavity. ,校对中... +HP:0100650,Vaginal neoplasm ,阴道肿瘤,A tumor (abnormal growth of tissue) of the vagina. ,校对中... +HP:0100651,Type I diabetes mellitus ,1型糖尿病,A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. ,校对中... +HP:0100653,Optic neuritis ,视神经炎,Inflammation of the optic nerve. ,校对中... +HP:0100654,Retrobulbar optic neuritis ,球后视神经炎,Optic neuritis that occurs in the section of the optic nerve located behind the eyeball. ,校对中... +HP:0100658,Cellulitis ,蜂窝织炎,A bacterial infection and inflammation of the skin und subcutaneous tissues. ,校对中... +HP:0100659,Abnormal cerebral vascular morphology ,脑血管形态异常,An anomaly of the cerebral blood vessels. ,校对中... +HP:0100660,Dyskinesia ,运动障碍,A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. ,校对中... +HP:0100661,Trigeminal neuralgia ,三叉神经痛,"A neuropathic disorder characterized by episodes of intense pain in the face, originating from the trigeminal nerve. One, two, or all three branches of the nerve may be affected. ",校对中... +HP:0100663,Synotia ,并耳畸形,"A congenital malformation characterized by the union or approximation of the ears in front of the neck, often accompanied by the absence or defective development of the lower jaw. ",校对中... +HP:0100665,Angioedema ,血管性水肿,"Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. ",校对中... +HP:0100669,Abnormal pigmentation of the oral mucosa ,口腔粘膜色素沉着异常,An abnormality of the pigmentation of the mucosa of the mouth. ,校对中... +HP:0100670,Coarse metaphyseal trabecularization ,干骺端小梁增粗,"Coarse appearance of the components of the network of osseous tissue that makes up the cancellous structure of a bone, i.e., thickening of the (usually fine) white lines that are produced by trabeculae in radiograms. ",校对中... +HP:0100671,Abnormal trabecular bone morphology ,骨小梁形态异常,Abnormal structure or form of trabecular bone. ,校对中... +HP:0100678,Premature skin wrinkling ,皮肤过早起皱,The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms. ,校对中... +HP:0100679,Lack of skin elasticity ,皮肤弹性缺乏, , +HP:0100682,Tracheal atresia ,气管闭锁,A congenital absence or considerable underdevelopment of the trachea such that communication between the larynx proximally and the alveoli of the lungs distally is lacking. ,校对中... +HP:0100684,Salivary gland neoplasm ,唾液腺肿瘤,A tumor (abnormal growth of tissue) of a salivary gland. ,校对中... +HP:0100686,Enthesitis ,附着点炎, , +HP:0100689,Decreased corneal thickness ,角膜厚度降低,A decreased anteroposterior thickness of the cornea. ,校对中... +HP:0100692,Increased corneal curvature ,角膜曲率偏高,An increase in the degree of curvature of the cornea compared to normal. ,校对中... +HP:0100693,Iridodonesis ,虹膜震颤,"Tremulousness of the iris on movement of the eye, occurring in subluxation of the lens. ",校对中... +HP:0100694,Tibial torsion ,胫骨扭转,Tibial torsion is inward twisting (medial rotation) (PATO:0002155) of the tibia. ,校对中... +HP:0100697,Neurofibrosarcoma ,神经纤维肉瘤,"A form of malignant cancer of the connective tissue surrounding nerves. Given its origin and behavior, it is classified as a sarcoma. ",校对中... +HP:0100698,Subcutaneous neurofibromas ,皮下的神经纤维瘤,The presence of Neurofibromas in the subcutis. ,校对中... +HP:0100699,Scarring ,瘢痕形成, , +HP:0100702,Arachnoid cyst ,蛛网膜囊肿,An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. ,校对中... +HP:0100703,Tongue thrusting ,吐舌习惯, , +HP:0100704,Cerebral visual impairment ,大脑皮质型视觉障碍,A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye. ,校对中... +HP:0100707,Abnormal astrocyte morphology ,星形胶质细胞形态异常,An abnormality of astrocytes. ,校对中... +HP:0100709,Reduction of oligodendroglia ,少突胶质细胞减少, , +HP:0100710,Impulsivity ,冲动,Acting on the spur of the moment in response to immediate stimuli; acting on a momentary basis without a plan or consideration of outcomes; difficulty establishing or following plans; a sense of urgency and self-harming behavior under emotional distress. ,校对中... +HP:0100711,Abnormal thoracic spine morphology ,胸椎形态异常,An abnormality of the thoracic vertebral column. ,校对中... +HP:0100712,Abnormal lumbar spine morphology ,腰椎形态异常,Any structural abnormality of the lumbar vertebral column. ,校对中... +HP:0100716,Self-injurious behavior ,自伤行为,Aggression towards oneself. ,校对中... +HP:0100718,Uterine rupture ,子宫破裂, , +HP:0100719,Lens coloboma ,晶状体缺损,"A sectoral indentation of the crystalline lens, usually due to zonular weakness or absence. ",校对中... +HP:0100720,Hypoplasia of the ear cartilage ,耳软骨发育不全, , +HP:0100721,Mediastinal lymphadenopathy ,纵膈淋巴结病,"Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. ",校对中... +HP:0100723,Gastrointestinal stroma tumor ,胃肠道间质肿瘤, , +HP:0100724,Hypercoagulability ,高凝状态,An abnormality of coagulation associated with an increased risk of thrombosis. ,校对中... +HP:0100725,Lichenification ,苔藓样变,Thickening and hardening of the epidermis seen with exaggeration of normal skin lines. ,校对中... +HP:0100726,Kaposi's sarcoma ,卡波西肉瘤,"A systemic disease which can present with cutaneous lesions with or without internal involvement. Tumors are caused by Human herpesvirus 8 (HHV8), also known as Kaposi's sarcoma-associated herpesvirus (KSHV). ",校对中... +HP:0100727,Histiocytosis ,组织细胞增多症,An excessive number of histiocytes (tissue macrophages). ,校对中... +HP:0100728,Germ cell neoplasia ,生殖细胞瘤, , +HP:0100729,Large face ,大脸, , +HP:0100730,Bronchogenic cyst ,支气管囊肿,A rare congenital cystic lesion of the lungs in the mediastinum. ,校对中... +HP:0100731,Transverse facial cleft ,面横裂,"A horizontal cleft of the face, varying from slight widening of the mouth, to a cleft extending to the ear. ",校对中... +HP:0100732,Pancreatic fibrosis ,胰腺纤维化, , +HP:0100734,Abnormality of vertebral epiphysis morphology ,椎体骨骺形态异常,An anomaly of one or more epiphyses of one or more vertebrae. ,校对中... +HP:0100735,Hypertensive crisis ,高血压危象, , +HP:0100736,Abnormal soft palate morphology ,软腭形态异常,An abnormality of the soft palate. ,校对中... +HP:0100737,Abnormal hard palate morphology ,硬腭形态异常, , +HP:0100738,Abnormal eating behavior ,进食行为异常,Abnormal eating habit with excessive or insufficient consumption of food or any other abnormal pattern of food consumption. ,校对中... +HP:0100739,Bulimia ,贪食症,"A form of anomalous eating behavior characterized by binge eating is followed by self-induced vomiting or other compensatory behavior intended to prevent weight gain (purging, fasting or exercising or a combination of these). ",校对中... +HP:0100742,Vascular neoplasm ,血管肿瘤,A benign or malignant neoplasm (tumour) originating in the vascular system. ,校对中... +HP:0100743,Neoplasm of the rectum ,直肠肿瘤, , +HP:0100748,Muscular edema ,肌肉水肿, , +HP:0100749,Chest pain ,胸痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the chest. ",校对中... +HP:0100750,Atelectasis ,肺不张,Collapse of part of a lung associated with absence of inflation (air) of that part. ,校对中... +HP:0100751,Esophageal neoplasm ,食管肿瘤,A tumor (abnormal growth of tissue) of the esophagus. ,校对中... +HP:0100752,Abnormal liver lobulation ,肝分叶异常,Formation of abnormal lobules (small masses of tissue) in the liver. ,校对中... +HP:0100753,Schizophrenia ,精神分裂症,"A mental disorder characterized by a disintegration of thought processes and of emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking, and it is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 0.3-0.7%. ",校对中... +HP:0100754,Mania ,躁狂,"A state of abnormally elevated or irritable mood, arousal, and or energy levels. ",校对中... +HP:0100755,Abnormality of salivation ,流涎异常, , +HP:0100757,Pancreatoblastoma ,胰母细胞瘤,A rare pediatric carcinoma of the pancreas. ,校对中... +HP:0100758,Gangrene ,坏疽,A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis). ,校对中... +HP:0100759,Clubbing of fingers ,杵状指,Terminal broadening of the fingers (distal phalanges of the fingers). ,校对中... +HP:0100760,Clubbing of toes ,杵状趾,Terminal broadening of the toes (distal phalanges of the toes). ,校对中... +HP:0100761,Visceral angiomatosis ,内脏血管瘤病, , +HP:0100763,Abnormality of the lymphatic system ,淋巴系统异常,"An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. ",校对中... +HP:0100764,Lymphangioma ,淋巴管瘤,Lymphangiomas are rare congenital malformations consisting of focal proliferations of well-differentiated lymphatic tissue in multi cystic or sponge like structures. Lymphangioma is usually asymptomatic due to its soft consistency but compression of adjacent structures can be seen due to the mass effect of a large tumor. ,校对中... +HP:0100765,Abnormality of the tonsils ,扁桃体异常,An abnormality of the tonsils. ,校对中... +HP:0100766,Abnormal lymphatic vessel morphology ,淋巴管形态异常,A structural anomaly of the vessel that contains or conveys lymph fluid. ,校对中... +HP:0100767,Abnormal placenta morphology ,胎盘异常,"An abnormality of the placenta, the organ that connects the developing fetus to the uterine wall to enable nutrient uptake, waste elimination, and gas exchange. ",校对中... +HP:0100768,Choriocarcinoma ,绒癌,"A malignant, trophoblastic and aggressive cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs and belongs to the far end of the spectrum of gestational trophoblastic disease (GTD), a subset of germ cell tumors. ",校对中... +HP:0100769,Synovitis ,滑膜炎, , +HP:0100770,Hyperperistalsis ,蠕动过强,Excessively active peristalsis (wave of contraction of the tubular organs of the gastrointestinal tract) marked by excessive rapidity of the passage of food through the stomach and intestine. ,校对中... +HP:0100771,Hypoperistalsis ,蠕动迟缓,"Reduced or inadequate peristalsis, with resultant slow passage of contents through the digestive tract. ",校对中... +HP:0100773,Cartilage destruction ,软骨破坏, , +HP:0100774,Hyperostosis ,骨质增生,Excessive growth or abnormal thickening of bone tissue. ,校对中... +HP:0100775,Dural ectasia ,硬膜扩张,A widening or ballooning of the dural sac surrounding the spinal cord usually at the lumbosacral level. ,校对中... +HP:0100776,Recurrent pharyngitis ,复发性咽炎,An increased susceptibility to pharyngitis as manifested by a history of recurrent pharyngitis. ,校对中... +HP:0100777,Exostoses ,外生骨疣,"An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. ",校对中... +HP:0100778,Cryoglobulinemia ,冷球蛋白血症,"Increased level of cryoglobulins in the blood. Cryoglobulins are abnormal immunoglobulins, especially IGG or IGM, that precipitate spontaneously when serum is cooled below 37 degrees Celsius. ",校对中... +HP:0100779,Urogenital sinus anomaly ,泌尿生殖窦异常,A rare birth defect in women where the urethra and vagina both open into a common channel. ,校对中... +HP:0100780,Conjunctival hamartoma ,结膜错构瘤,A hamartoma (disordered proliferation of mature tissues) of the conjunctiva. ,校对中... +HP:0100781,Abnormal sacroiliac joint morphology ,骶髂关节形态异常,"An anomaly of the sacroiliac joint, which connects the base of the spine (sacrum) to the ilium (a hip bone). ",校对中... +HP:0100783,Breast aplasia ,乳房发育不全,Failure to develop and congenital absence of the breast. ,校对中... +HP:0100784,Peripheral arteriovenous fistula ,外围动静脉瘘, , +HP:0100785,Insomnia ,失眠,Persistent difficulty initiating or maintaining sleep. ,校对中... +HP:0100786,Hypersomnia ,过度睡眠, , +HP:0100789,Torus palatinus ,腭隆凸,A bony protrusion present on the midline of the hard palate. ,校对中... +HP:0100790,Hernia ,疝, , +HP:0100792,Acantholysis ,皮肤棘层松解,"The loss of intercellular connections, such as desmosomes, resulting in loss of cohesion between keratinocytes. ",校对中... +HP:0100795,Abnormally straight spine ,脊柱异常变直,The absence of the normal curvature of the vertebral column. ,校对中... +HP:0100796,Orchitis ,睾丸炎,Testicular inflammation. ,校对中... +HP:0100797,Toenail dysplasia ,趾甲发育不良,An abnormality of the development of the toenails. ,校对中... +HP:0100798,Fingernail dysplasia ,指甲发育不良,An abnormality of the development of the fingernails. ,校对中... +HP:0100800,Aplasia/Hypoplasia of the pancreas ,胰腺发育不良/发育不全,A congenital underdevelopment (aplasia or hypoplasia) of the pancreas. ,校对中... +HP:0100801,Pancreatic aplasia ,胰腺发育不良,Aplasia of the pancreas. ,校对中... +HP:0100802,Malposition of the stomach ,胃错位,Abnormal anatomical location of the stomach. This feature may be due to intestinal malrotation. ,校对中... +HP:0100803,Abnormality of the periungual region ,甲周异常,An abnormality of the region around the nails of the fingers or toes. ,校对中... +HP:0100804,Ungual fibroma ,甲纤维瘤,Flesh-colored papule in or around the nail bed. Ungual fibromas may be periungual (arising under the proximal nail fold) or subungual (originating under the nail plate). ,校对中... +HP:0100806,Sepsis ,脓毒症,Systemic inflammatory response to infection. ,校对中... +HP:0100807,Long fingers ,长手指,"The middle finger is more than 2 SD above the mean for newborns 27 to 41 weeks EGA or above the 97th centile for children from birth to 16 years of age AND the five digits retain their normal length proportions relative to each other (i.e., it is not the case that the middle finger is the only lengthened digit), or, Fingers that appear disproportionately long compared to the palm of the hand. ",校对中... +HP:0100808,Gastric diverticulum ,胃憩室,An outpouching of the gastric wall. ,校对中... +HP:0100809,Scalp tenderness ,头皮压痛,Pain or discomfort of the scalp elicited by palpation. ,校对中... +HP:0100812,Halitosis ,口臭,Noticeably unpleasant odors exhaled in breathing. ,校对中... +HP:0100813,Testicular torsion ,睾丸扭转,"Testicular torsion is when the spermatic cord to a testicle twists, cutting off the blood supply. The most common symptom is acute testicular pain. ",校对中... +HP:0100814,Blue nevus ,蓝痣, , +HP:0100816,Lip hyperpigmentation ,唇部色素沉着, , +HP:0100817,Renovascular hypertension ,肾血管性高血压,The presence of hypertension related to stenosis of the renal artery. ,校对中... +HP:0100818,Long thorax ,长胸廓,Increased inferior to superior extent of the thorax. ,校对中... +HP:0100819,Intestinal fistula ,肠瘘,"An abnormal connection between the gut and another hollow organ, such as the bladder, urethra, vagina, or other regions of the gastrointestinal tract. ",校对中... +HP:0100820,Glomerulopathy ,肾小球病,Inflammatory or noninflammatory diseases affecting the glomeruli of the nephron. ,校对中... +HP:0100825,Cheilitis ,唇炎,Inflammation of the lip. ,校对中... +HP:0100827,Lymphocytosis ,淋巴细胞增多症,Increase in the number or proportion of lymphocytes in the blood. ,校对中... +HP:0100828,Increased T cell count ,T细胞数目增多,An abnormal increase in the total number of T cells detected in the blood. ,校对中... +HP:0100829,Galactorrhea ,溢乳,"Spontaneous flow of milk from the breast, unassociated with childbirth or nursing. ",校对中... +HP:0100830,Round ear ,圆耳, , +HP:0100832,Vitreous floaters ,玻璃体漂浮物,"Deposits of various size, shape, consistency, refractive index, and motility within the eye's vitreous humour, which is normally transparent. ",校对中... +HP:0100833,Neoplasm of the small intestine ,小肠新生物,The presence of a neoplasm of the small intestine. ,校对中... +HP:0100835,Benign neoplasm of the central nervous system ,中枢神经系统的良性肿瘤, , +HP:0100836,Malignant neoplasm of the central nervous system ,中枢神经系统恶性肿瘤,"A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns. ",校对中... +HP:0100837,Atrophodermia vermiculata ,虫蚀状皮肤萎缩,"Symmetrical vermiform facial atrophy that affects mainly the forehead, the chin, the ear lobes and helices. Atrophodermia vermiculata is characterized by erythema and follicular plugs on the cheeks, developing into painless reticular impressions. ",校对中... +HP:0100838,Recurrent cutaneous abscess formation ,复发性皮肤脓肿,"An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses. ",校对中... +HP:0100840,Aplasia/Hypoplasia of the eyebrow ,眉毛发育不全,Absence or underdevelopment of the eyebrow. ,校对中... +HP:0100842,Septo-optic dysplasia ,透明隔-视神经发育不良,Underdevelopment of the optic nerve and absence of the septum pellucidum. ,校对中... +HP:0100845,Anaphylactic shock ,过敏性休克,An acute hypersensitivity reaction due to exposure to a previously encountered antigen. ,校对中... +HP:0100849,Neoplasm of the scrotum ,阴囊肿瘤,A tumor (abnormal growth of tissue) of the scrotum. ,校对中... +HP:0100851,Abnormal emotion/affect behavior ,异常情绪/情感行为,An abnormality of emotional behaviour. ,校对中... +HP:0100852,Abnormal fear/anxiety-related behavior ,恐惧/焦虑相关行为异常,"An abnormality of fear/anxiety-related behavior, which may relate to either abnormally reduced fear/anxiety-related response or increased fear/anxiety-related response. ",校对中... +HP:0100853,Hypoplastic areola ,乳晕发育不良,"Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple. ",校对中... +HP:0100856,Poorly ossified vertebrae ,椎骨骨化不良,Decreased ossification of the vertebral bodies. ,校对中... +HP:0100858,Dilatation of celiac artery ,腹腔动脉扩张,Abnormal outpouching or sac-like dilatation in the wall of the celiac artery. ,校对中... +HP:0100861,Sclerotic vertebral body ,椎体硬化,Increase in bone density of the vertebral body. ,校对中... +HP:0100864,Short femoral neck ,股骨颈短,"An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). ",校对中... +HP:0100865,Broad ischia ,坐骨增宽,"Increased width of the ischium, which forms the lower and back part of the hip bone. ",校对中... +HP:0100866,Short iliac bones ,短髂骨,Underdevelopment of the iliac bones. ,校对中... +HP:0100867,Duodenal stenosis ,十二指肠狭窄,The narrowing or partial blockage of a portion of the duodenum. ,校对中... +HP:0100869,Palmar telangiectasia ,手掌毛细血管扩张,The presence of telangiectases on the skin of palm of hand. ,校对中... +HP:0100870,Plantar telangiectasia ,跖部毛细血管扩张,Telangiectases (small dilated blood vessels) located on the skin of sole of foot. ,校对中... +HP:0100872,Abnormality of the plantar skin of foot ,跖部皮肤异常,"An abnormality of the plantar part of foot, that is of the soles of the feet. ",校对中... +HP:0100874,Thick hair ,浓发,"Increased density of hairs, i.e., and elevated number of hairs per unit area. ",校对中... +HP:0100876,Infra-orbital crease ,下睑皱纹,Skin crease extending from below the inner canthus laterally along the malar process of the maxilla and zygoma. ,校对中... +HP:0100879,Enlarged ovaries ,卵巢增大, , +HP:0100880,Nephrogenic rest ,肾源性胚胎细胞残留,"Abnormally persistent clusters of embryonal cells, representing microscopic malformations (dysplasias) of the developing kidney. ",校对中... +HP:0100887,Abnormality of globe size ,眼球大小异常,An abnormality in the size of the ocular globe (eyeball). ,校对中... +HP:0100889,Abnormality of the ductus choledochus ,胆总管异常,"An abnormality of the Common bile duct, a tube-like anatomic structure in the human gastrointestinal tract, formed by the union of the Common hepatic duct and the Cystic duct from the gall bladder. ",校对中... +HP:0100890,Cyst of the ductus choledochus ,胆总管囊肿, , +HP:0100896,Rectal polyposis ,直肠息肉病,The presence of multiple rectal hyperplastic/adenomatous polyps. ,校对中... +HP:0100898,Connective tissue nevi ,结缔组织痣,Connective tissue nevi are hamartomas in which one or several components of the dermis is altered. ,校对中... +HP:0100899,Sclerosis of finger phalanx ,手指指骨硬化,An elevation in bone density in one or more phalanges of the fingers. Sclerosis is normally detected on a radiograph as an area of increased opacity. ,校对中... +HP:0100923,Clavicular sclerosis ,锁骨硬化,An increase in bone density within the clavicle. ,校对中... +HP:0100950,Decreased 3-hydroxyacyl-CoA dehydrogenase level ,3-羟酰基辅酶A脱氢酶水平降低, , +HP:0100951,Enlarged fossa interpeduncularis ,脚间窝扩大, , +HP:0100952,Enlarged sylvian cistern ,侧裂池扩大,An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). ,校对中... +HP:0100953,Enlarged interhemispheric fissure ,纵裂扩大, , +HP:0100954,Open operculum ,岛盖张开,Underdevelopment of the operculum. ,校对中... +HP:0100957,Abnormal renal medulla morphology ,肾髓质形态异常,Any structural abnormality of the medulla of the kidney. ,校对中... +HP:0100958,Narrow foramen obturatorium ,闭孔狭窄,Decreased width of the foramen obturatorium. The foramen obturatorium (also known as the obturator foramen) is a hole located between the ischium and pubis bones of the pelvis. ,校对中... +HP:0100959,Dense metaphyseal bands ,干骺端致密带,Dense radiopaque bands of bone which are thicker than the adjacent diaphyseal cortex and may form at the metaphysis of growing bones. They appear on radiographs as bone that is more radiopaque that the adjacent diaphyseal cortex. ,校对中... +HP:0100960,Asymmetric ventricles ,非对称脑室, , +HP:0100962,Shyness ,害羞, , +HP:0100963,Hyperesthesia ,感觉过敏,"Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. ",校对中... +HP:0200000,Dysharmonic bone age ,骨龄发育不一致,Different levels of maturation of different bones. ,校对中... +HP:0200003,Splayed epiphyses ,骨骺端膨大,Flaring (widening) of the epiphysis. ,校对中... +HP:0200005,Abnormal shape of the palpebral fissure ,睑裂形状异常,The presence of an abnormal shape of the palpebral fissure. ,校对中... +HP:0200006,Slanting of the palpebral fissure ,睑裂倾斜, , +HP:0200007,Abnormal size of the palpebral fissures ,睑裂大小异常,An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures. ,校对中... +HP:0200008,Intestinal polyposis ,肠息肉病,The presence of multiple polyps in the intestine. ,校对中... +HP:0200012,Short corpus callosum ,短胼胝体, , +HP:0200016,Acrokeratosis ,肢端角化症,Overgrowth of the stratum corneum characterized by flesh-coloured or slightly pigmented smooth or warty papules on the upper surface of hands and feet. ,校对中... +HP:0200018,Protanomaly ,红色弱,"A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. ",校对中... +HP:0200020,Corneal erosion ,角膜糜烂,An erosion or abrasion of the cornea's outermost layer of epithelial cells. ,校对中... +HP:0200021,Down-sloping shoulders ,肩下斜,"Low set, steeply sloping shoulders. ",校对中... +HP:0200022,Choroid plexus papilloma ,脉络丛乳头状瘤,Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus. ,校对中... +HP:0200023,Priapism ,阴茎持续勃起症,"A painful and harmful medical condition in which the erect penis doesn't return to its flaccid state, despite the absence of both physical and psychological stimulation, within four hours. ",校对中... +HP:0200024,Premature chromatid separation ,姐妹染色单体过早分离,The presence of premature sister chromatid segregation. ,校对中... +HP:0200025,Mandibular pain ,下颌疼痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the mandible. ",校对中... +HP:0200026,Ocular pain ,眼痛,"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye. ",校对中... +HP:0200029,Vasculitis in the skin ,皮肤血管炎, , +HP:0200030,Punctate vasculitis skin lesions ,表皮点状血管炎, , +HP:0200032,Kayser-Fleischer ring ,角膜色素环,Grey-green or brownish-pigmented ring in the deep epithelial layers at the outer border of the cornea. ,校对中... +HP:0200034,Papule ,丘疹,"A circumscribed, solid elevation of skin with no visible fluid, varying in size from a pinhead to less than 10mm in diameter at the widest point. ",校对中... +HP:0200035,Skin plaque ,皮肤斑块,"A plaque is a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter. ",校对中... +HP:0200036,Skin nodule ,皮肤结节,"Morphologically similar to a papule, but greater than either 10mm in both width and depth, and most frequently centered in the dermis or subcutaneous fat. ",校对中... +HP:0200037,Skin vesicle ,表皮水疱,"A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point. ",校对中... +HP:0200039,Pustule ,脓疱,A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells. ,校对中... +HP:0200040,Epidermoid cyst ,表皮样囊肿,"Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts. ",校对中... +HP:0200041,Skin erosion ,皮肤糜烂,"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed. ",校对中... +HP:0200042,Skin ulcer ,皮肤溃疡,A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat. ,校对中... +HP:0200043,Verrucae ,疣,"Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. ",校对中... +HP:0200044,Porokeratosis ,汗孔角化病,A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella. ,校对中... +HP:0200046,Cat cry ,猫叫,The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. ,校对中... +HP:0200047,Chondritis of pinna ,耳廓软骨炎,Inflammation of the cartilage of the external ear. ,校对中... +HP:0200048,Cyanotic episode ,紫绀发作, , +HP:0200049,Upper limb hypertonia ,上肢张力增高, , +HP:0200053,Hemihypotrophy of lower limb ,下肢偏侧萎缩,Shortening of a leg affecting only one side. ,校对中... +HP:0200055,Small hand ,小手,Disproportionately small hand. ,校对中... +HP:0200056,Macular scar ,黄斑瘢痕,Scar tissue in the macula. ,校对中... +HP:0200057,Marcus Gunn pupil ,Marcus Gunn 瞳孔,"An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye. ",校对中... +HP:0200058,Angiosarcoma ,血管肉瘤, , +HP:0200063,Colorectal polyposis ,结直肠息肉病,Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen. ,校对中... +HP:0200065,Chorioretinal degeneration ,脉络膜视网膜变性, , +HP:0200067,Recurrent spontaneous abortion ,复发性自然流产,Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference. ,校对中... +HP:0200068,Nonprogressive visual loss ,非进行性视力下降, , +HP:0200070,Peripheral retinal atrophy ,周边视网膜萎缩, , +HP:0200071,Peripheral vitreoretinal degeneration ,周边玻璃体视网膜变性,A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina. ,校对中... +HP:0200072,Episodic quadriplegia ,发作性四肢瘫痪,Intermittent episodes of paralysis of all four limbs. ,校对中... +HP:0200073,Respiratory insufficiency due to defective ciliary clearance ,纤毛清除缺陷所致呼吸功能不全, , +HP:0200083,Severe limb shortening ,重度肢体短缩, , +HP:0200084,Giant cell hepatitis ,巨细胞肝炎,Chronic hepatitis characterized by parenchymal inflammation with formation of large multinucleated hepatocytes in response to a variety of insults to the liver. ,校对中... +HP:0200085,Limb tremor ,肢体震颤, , +HP:0200094,Frontal open bite ,前牙开合畸形, , +HP:0200096,Triangular-shaped open mouth ,三角形张口,"A facial appearance characterized by a permanently or nearly permanently opened mouth, in which the upper lip is tented in a way that the opened mouth has the appearance of a triangle. ",校对中... +HP:0200097,Oral mucosal blisters ,口腔粘膜水泡,Blisters arising in the mouth. ,校对中... +HP:0200098,Absent skin pigmentation ,皮肤色素缺失,Lack of skin pigmentation (coloring). ,校对中... +HP:0200101,Decreased/absent ankle reflexes ,踝反射降低/缺如, , +HP:0200102,Sparse or absent eyelashes ,睫毛稀疏/无睫毛, , +HP:0200104,Absent fifth fingernail ,第5指甲缺损,Absence of nail of little finger. ,校对中... +HP:0200105,Absent fifth toenail ,第5趾甲缺损, , +HP:0200109,Absent/shortened outer dynein arms ,外动力蛋白臂缺失/缩短, , +HP:0200114,Metabolic alkalosis ,代谢性碱中毒,Metabolic alkalosis is defined as a disease state where the pH is elevated to greater than 7.45 secondary to some metabolic process. ,校对中... +HP:0200116,Distal ileal atresia ,远端回肠闭锁, , +HP:0200117,Recurrent upper and lower respiratory tract infections ,上下呼吸道反复感染,"Increased susceptibility to upper and lower respiratory tract infections, as manifested by recurrent episodes of upper and lower respiratory tract infections. ",校对中... +HP:0200118,Malabsorption of Vitamin B12 ,维生素B12吸收不良, , +HP:0200119,Acute hepatitis ,急性肝炎,"Acute hepatic injury resulting from inflammation typically accompanied by increased serum alanine transaminase activity. Etiologies include viral hepatitis, drugs, toxins, and autoimmune disorders. ",校对中... +HP:0200120,Chronic active hepatitis ,慢性活动性肝炎,"Chronic hepatitis associated with recurrent clinical exacerbations, extrahepatic manifestations, and progression to cirrhosis. ",校对中... +HP:0200122,Atypical or prolonged hepatitis ,非典型或持续性肝炎, , +HP:0200123,Chronic hepatitis ,慢性肝炎,Hepatitis that lasts for more than six months. ,校对中... +HP:0200124,Chronic hepatitis due to cryptosporidium infection ,隐孢子虫感染引起的慢性肝炎,"Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue. ",校对中... +HP:0200125,Mitochondrial respiratory chain defects ,线粒体呼吸链缺陷, , +HP:0200127,Atrial cardiomyopathy ,心房心肌病,"Any complex of structural, architectural, contractile or electrophysiological changes affecting the atria with the potential to produce clinically relevant manifestations. ",校对中... +HP:0200128,Biventricular hypertrophy ,双心室肥厚,Thickening of the heart walls in both ventricles. ,校对中... +HP:0200133,Lumbosacral meningocele ,腰骶部脊膜膨出, , +HP:0200134,Epileptic encephalopathy ,癫痫性脑病,"A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death. ",校对中... +HP:0200136,Oral-pharyngeal dysphagia ,口咽部吞咽困难, , +HP:0200138,Bilateral choanal atresia/stenosis ,双侧后鼻孔闭锁/狭窄, , +HP:0200141,"Small, conical teeth ",锥形小齿, , +HP:0200143,Megaloblastic erythroid hyperplasia ,巨幼红细胞增生异常, , +HP:0200146,Mucoid extracellular matrix accumulation ,粘液样细胞外基质积聚,"An increase of medial mucoid extracellular matrix creating translamellar and/or intralamellar expansions including extracellular pools as noted on an H&E stain and/or a stain to highlight extracellular matrix material (Movat's pentachrome, Alcian blue, etc.). ",校对中... +HP:0200147,Neuronal loss in basal ganglia ,基底神经节神经元丢失,A reduction in the number of nerve cells in the basal ganglia. ,校对中... +HP:0200148,Abnormal liver function tests during pregnancy ,孕期肝功能检查异常, , +HP:0200149,CSF lymphocytic pleiocytosis ,脑脊液淋巴细胞增生症,An increased lymphocyte count in the cerebrospinal fluid. ,校对中... +HP:0200150,Increased serum bile acid concentration during pregnancy ,孕期血清胆汁酸浓度增高, , +HP:0200151,Cutaneous mastocytosis ,皮肤肥大细胞增多症,Multifocal dense infiltrates of mast cells in cutaneous tissue. ,校对中... +HP:0200153,Agenesis of lateral incisor ,侧切牙发育不全, , +HP:0200160,Agenesis of maxillary incisor ,上颌切牙发育不全, , +HP:0400000,Tall chin ,高下巴,Increased vertical distance from the vermillion border of the lower lip to the inferior-most point of the chin. ,校对中... +HP:0400004,Long ear ,长耳,Median longitudinal ear length greater than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. ,校对中... +HP:0400005,Short ear ,短耳,Median longitudinal ear length less than two SD above the mean determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. ,校对中... +HP:0400008,Menometrorrhagia ,月经过多,Prolonged/excessive menses and bleeding at irregular intervals. ,校对中... +HP:0410003,Cleft maxillary alveolus ,上牙槽突裂,"Alveolar cleft is a tornado-shaped bone defect in the maxillary arch. Alveolar cleft occurs in response to divergence from normal development during frontonasal prominence growth, contact, and fusion. The most common alveolar portion of the cleft is located between the lateral incisor and the canine. ",校对中... +HP:0410005,Cleft hard palate ,硬腭裂, , +HP:0410011,Abnormality of masticatory muscle ,咀嚼肌异常,Any abnormality of the masticatory muscle. ,校对中... +HP:0410017,Otitis externa ,外耳炎,"Inflammation or infection of the external auditory canal (EAC), the auricle, or both. ",校对中... +HP:0410018,Recurrent ear infections ,反复耳部感染,"Increased susceptibility to ear infections, as manifested by recurrent episodes of ear infections. ",校对中... +HP:0410019,Epigastric pain ,上腹部疼痛,Pain that is localized to the region of the upper abdomen immediately below the ribs. ,校对中... +HP:0410020,Fish odor ,鱼腥味,"Body odor characterized by an offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylamine (TMA) in the urine, sweat, and breath of affected individuals. ",校对中... +HP:0410026,Abnormal periodontium morphology ,牙周组织形态异常,Any abnormality of the periodontium. ,校对中... +HP:0410027,Alveolar bone loss around teeth ,牙周的牙槽骨萎缩,A decrease in the amount of alveolar bone around the root of a tooth. ,校对中... +HP:0410028,Recurrent oral herpes ,复发性口腔疱疹,"Recurrent episodes of oral herpes, typically characterized by blisters or ulcers on the gums, lips and/or tongue caused by herpes virus. ",校对中... +HP:0410030,Cleft lip ,唇裂,A gap in the lip or lips. ,校对中... +HP:0410031,Submucous cleft of soft and hard palate ,黏膜下腭裂,Soft and hard-palate submucous clefts are characterized by bony defects in the midline of the soft and hard palate that are covered by the lining (ie mucous membrane) of the roof of the mouth. ,校对中... +HP:0410033,Unilateral alveolar cleft of maxilla ,单侧牙槽嵴裂。,One sided alveolar cleft of the maxilla. ,校对中... +HP:0410049,Abnormality of radial ray ,径向线异常, , +HP:0410050,"Decreased level of 1,5 anhydroglucitol in serum ","血清1,5脱水葡萄糖醇水平降低","A decrease in the level of 1,5 anhydroglucitol in the serum. 1,5-Anhydrosorbitol is a validated marker of short-term glycemic control. This substance is derived mainly from food, is well absorbed in the intestine, and is distributed to all organs and tissues. ",校对中... +HP:0410051,Increased level of 3-hydroxy-3-methylglutaric acid in urine ,尿液中3-羟-3-甲基戊二酸水平增高,An increase in the level of 3-hydroxy-3-methylglutaric acid in the urine. ,校对中... +HP:0410053,Increased level of GABA in serum ,血清γ-氨基丁酸（GABA）水平增高,An increase in the level of GABA in the serum. ,校对中... +HP:0410054,Decreased level of GABA in serum ,血清γ-氨基丁酸（GABA）水平降低,A decrease in the level of GABA in the serum. ,校对中... +HP:0410055,Decreased level of erythritol in urine ,尿液赤藓糖醇水平降低,A decrease in the level of erythritol in the urine. ,校对中... +HP:0410056,Decreased level of erythritol in CSF ,脑脊液赤藓糖醇水平降低,A decrease in the level of erythritol in the cerebrospinal fluid. ,校对中... +HP:0410057,Increased level of D-threitol in plasma ,血浆D-苏糖醇水平增高,An increase in the level of D-threitol in the plasma. ,校对中... +HP:0410058,Increased level of D-threitol in CSF ,脑脊液D-苏糖醇水平增高,An increase in the level of D-threitol in the cerebrospinal fluid. ,校对中... +HP:0410059,Increased level of D-threitol in urine ,尿液D-苏糖醇水平增高,An increase in the level of D-threitol in the urine. ,校对中... +HP:0410061,Increased level of galactitol in plasma ,血浆半乳糖醇水平增高,An increase in the level of galactitol in the plasma. ,校对中... +HP:0410062,Increased level of galactitol in urine ,尿液半乳糖醇水平增高,An increase in the level of galactitol in the urine. ,校对中... +HP:0410063,Increased level of galactonate in red blood cells ,红细胞半乳糖水平增高,An increase in the level of galactonate in the red blood cells. ,校对中... +HP:0410064,Increased level of galactitol in red blood cells ,红细胞半乳糖醇水平增高,An increase in the level of galactitol in the red blood cells. ,校对中... +HP:0410066,Increased level of hippuric acid in urine ,尿液马尿酸水平增高,An increase in the level of hippuric acid in the urine. ,校对中... +HP:0410067,Increased level of L-fucose in urine ,尿液L-岩藻糖水平增高,An increase in the level of L-fucose in the urine. ,校对中... +HP:0410068,Increased level of L-glutamic acid in blood ,血液L-谷氨酸水平增高,An increase in the level of L-glutamic acid in the blood. ,校对中... +HP:0410069,Increased level of propylene glycol in blood ,血液中丙二酸浓度增高,An increase in the level of propylene glycol in the blood. ,校对中... +HP:0410070,Increased level of ribitol in urine ,尿液核糖醇水平增高,An increase in the level of ribitol in the urine. Ribotol is a crystalline pentose alcohol (C5H12O5) and is a metabolic end product formed by the reduction of ribose. ,校对中... +HP:0410071,Increased level of ribitol in CSF ,脑脊液核糖醇水平增高,An increase in the level of ribitol in the cerebral spinal fluid. ,校对中... +HP:0410072,Increased level of ribose in urine ,尿液核糖水平增高,An increase in the level of ribose in the urine. ,校对中... +HP:0410073,Increased level of ribose in CSF ,脑脊液核糖水平增高,An increase in the level of ribose in the cerebrospinal fluid. ,校对中... +HP:0410074,Increased level of xylitol in urine ,尿液木糖醇水平增高,An increase in the level of xylitol in the urine. ,校对中... +HP:0410075,Increased level of xylitol in CSF ,脑脊液木糖醇水平增高,An increase in the level of xylitol in the cerebrospinal fluid. ,校对中... +HP:0410132,Increased level of L-pyroglutamic acid in urine ,尿液L-焦谷氨酸水平增高,An increase in the level of L-pyroglutamic acid in the urine. ,校对中... +HP:0410135,Cold urticaria ,寒性荨麻疹,Urticaria may be caused by cold temperatures. ,校对中... +HP:0410145,Decreased biotinidase level ,生物素酶水平降低,"A decrease in the biotinidase level, an enzyme that releases biotin from biocytin, the product of biotin-dependent carboxylases degradation. ",校对中... +HP:0410151,Eosinophilic infiltration of the esophagus ,食道嗜酸性粒细胞浸润,"Infiltration of numerous eosinophils (usually greater than 15 per high power field) into the squamous epithelium of the esophagus, and layering of eosinophils on the surface layer of the esophagus. ",校对中... +HP:0410153,Increased level of methylsuccinic acid in urine ,尿液甲基琥珀酸升高,An increase in the level of methylsuccinic acid in the urine. ,校对中... +HP:0410170,Hippocampal atrophy ,海马萎缩,Partial or complete wasting (loss) of hippocampus tissue that was once present. ,校对中... +HP:0410173,Increased circulating troponin I concentration ,循环肌钙蛋白I浓度升高,"An increased concentration of tropnin I in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. ",校对中... +HP:0410174,Increased circulating troponin T concentration ,循环肌钙蛋白T浓度升高,"An increased concentration of tropnin T in the blood, which is a cardiac regulatory protein that controls the calcium mediated interaction between actin and myosin. Raised cardiac troponin concentrations are now accepted as the standard biochemical marker for the diagnosis of myocardial infarction. ",校对中... +HP:0410175,Hyperketonemia ,高酮血症,"An increase in the level of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the blood. ",校对中... +HP:0410179,Decreased glucose-6-phosphate dehydrogenase level in blood ,血液6-磷酸葡萄糖脱氢酶降低,A decrease in the level of glucose-6-phosphate dehydrogenase in the blood. ,校对中... +HP:0410204,Increased intestinal transit time ,肠道转运时间增加,An increase in the length of time required for food to pass through the intestines. ,校对中... +HP:0410216,Abnormal blood 5-methyltetrahydrofolate level ,血液5-甲基四氢叶酸异常,An abnormal concentration of 5-methyltetrahydrofolate in the blood. ,校对中... +HP:0410219,Hypoplasia of mandible relative to maxilla ,相对于上颌骨下颌骨发育不良,Abnormally small dimension of the mandible (lower jaw) relative to the maxilla (upper jaw). ,校对中... +HP:0410240,Abnormal circulating IgA level ,血液IgA异常,An abnormal deviation from normal levels of IgA immunoglobulin in blood. ,校对中... +HP:0410242,Abnormal circulating IgG level ,血液IgG异常,An abnormal deviation from normal levels of IgG immunoglobulin in blood. ,校对中... +HP:0410243,Abnormal circulating IgM level ,血液IgM异常,An abnormal deviation from normal levels of IgM immunoglobulin in blood. ,校对中... +HP:0410246,Increased circulating IgD level ,血液IgD升高,An abnormally increased level of immunoglobulin D in blood. ,校对中... +HP:0410252,Chronic neutropenia ,慢性中性粒细胞减少症,"Neutropenia with an absolute neutrophil count (ANC) less than 1,500,000,000/L lasting for more than 3 months. ",校对中... +HP:0410255,Transient neutropenia ,一过性中性粒细胞减少,"A transient reduction in the number of neutrophils in the peripheral blood. Transient neutropenia is most commonly associated with viral infections, but other causes include drugs and autoimmunity. ",校对中... +HP:0410256,Infection associated neutropenia ,感染性中性粒细胞减少,"Transient neutropenia caused by an infection, such as with a virus, bacteria or protozoan. ",校对中... +HP:0410259,Hepatopulmonary fusion ,肝肺融合,Fusion of the liver with the lung. ,校对中... +HP:0410262,Lower cranial nerve dysfunction ,后组颅神经功能障碍,"A functional abnormality affecting the lower cranial nerves, which include the paired 9th (glossopharyngeal), 10th (vagal), 11th (accessory) and 12th (hypoglossal) cranial nerves. ",校对中... +HP:0410263,Brain imaging abnormality ,脑成像异常,An anomaly of metabolism or structure of the brain identified by imaging. ,校对中... +HP:0410276,Supraumbilical raphe ,脐上缝,"An abnormality of the sternum that presents at birth as a ventral sternal non-union defect, due to an abnormality of the fusion of the layers of the skin. It presents as a scar-like line that extends upward from the umbilicus (belly button). ",校对中... +HP:0410279,Atrophic pituitary gland ,垂体萎缩,Partial or complete wasting (loss) of the pituitary gland. ,校对中... +HP:0410280,Pediatric onset ,童年发病,"Onset of disease manifestations before adulthood, defined here as before the age of 15 years, but excluding neonatal or congenital onset. ",校对中... +HP:0410281,Dyspepsia ,消化不良,"A heterogeneous group of symptoms that are localized in the epigastric region. Typical dyspeptic symptoms include postprandial fullness, early satiation, epigastric pain and epigastric burning, but other upper gastrointestinal symptoms such as nausea, belching or abdominal bloating often occur. ",校对中... +HP:0410288,Hyperamylasemia ,高淀粉酶血症,"Increased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. ",校对中... +HP:0410289,Hypoamylasemia ,低淀粉酶血症,"Decreased level of amylase in the blood, an enzyme which helps digest glycogen and starch. It is produced mainly in the pancreas and salivary glands. ",校对中... +HP:0410291,Negativism ,违抝,Opposing or not responding to instructions or external stimuli. ,校对中... +HP:0410292,Abnormal isohemagglutinin level ,同种红细胞血凝素水平异常,"An abnormal level of isohemagglutinin in the blood. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). ",校对中... +HP:0410293,Absent isohemagglutinin level ,同种红细胞凝集素缺乏,"Absent or undetectable level of isohemagglutinin. An isohemagglutinin refers to the naturally occurring antibodies in the ABO blood group system (i.e., anti-A in a group B person, anti-B in a group A person, and anti-A, anti-B, and anti-A,B in a group O person). ",校对中... +HP:0410295,Complete or near-complete absence of specific antibody response to tetanus vaccine ,对破伤风疫苗完全或几乎全无特异性抗体应答,"The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. ",校对中... +HP:0410297,Partial absence of specific antibody response to tetanus vaccine ,对破伤风疫苗的特异性抗体应答部分缺失,"A reduced ability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. ",校对中... +HP:0410299,Decreased specific antibody response to polysaccharide vaccine ,对多糖疫苗特异性抗体应答降低,"A reduced ability to synthesize postvaccination antibodies against polysaccharides in vaccines, as measured by antibody titer determination following vaccination. ",校对中... +HP:0410300,Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine ,对肺炎球菌疫苗完全或几乎全无特异性抗体应答,"The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. ",校对中... +HP:0410301,Partial absence of specific antibody response to unconjugated pneumococcus vaccine ,对肺炎球菌疫苗特异性抗体应答降低,"A reduced ability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination. ",校对中... +HP:0410303,Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine ,对B型流感嗜血杆菌（Hib）疫苗完全或几乎全无特异性抗体应答,"The inability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. ",校对中... +HP:0410305,Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine ,对B型流感嗜血杆菌（Hib）疫苗特异性抗体应答降低,"A reduced ability to synthesize postvaccination antibodies against a Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination. ",校对中... +HP:0410309,Alpha-aminoadipic aciduria ,α-氨基己二酸尿症,A increased concentration of alpha-aminoadipic acid in the urine. ,校对中... +HP:0410323,Drug allergy ,药物性过敏,Hypersensitivity in form of an adverse immune reaction against drugs. ,校对中... +HP:0410346,Increased urinary galactosylated oligosaccharide ,尿半乳糖寡糖水平升高,An abnormal increase in the concentration of galactosylated oligosaccharides in urine. ,校对中... +HP:0410362,Decreased O-mannosyl glycans on alpha-dystroglycan ,α-肌营养不良蛋白聚糖上O-甘露糖基聚糖减少,Hypoglycosylation of alpha-dystroglycan with O-mannosyl glycans. Alpha-dystroglycan is a functional target of O-mannosyl glycosylation and functional glycosylation of alpha-DG is essential in its interaction with the extracellular matrix. ,校对中... +HP:0410373,Abnormal proportion of naive CD4 T cells ,初始CD4 T 细胞比例异常,Any abnormality in the proportion of naive CD4 T cells relative to the total number of T cells. ,校对中... +HP:0410377,Decreased proportion of naive CD8 T cells ,初始CD8 T 细胞比例减低,An abnormally reduced proportion of naive CD8 T cells relative to the total number of T cells. ,校对中... +HP:0410388,"Decreased proportion of central memory CD4-positive, alpha-beta T cells ",中央记忆性CD4+，α-β T细胞比例减低,"A reduced proportion of central memory CD4-positive, alpha-beta memory T cells compared to the total number of T cells in the blood. These cells have the phenotype of CCR7-positive, CD127-positive, CD45RA-negative, CD45RO-positive, and CD25-negative. ",校对中... +HP:0430000,Abnormality of the frontal bone ,额骨异常,An abnormality of the frontal bone. ,校对中... +HP:0430007,Symblepharon ,睑球粘连,A partial or complete adhesion of the palpebral conjunctiva of the eyelid to the bulbar conjunctiva of the eyeball. ,校对中... +HP:0430009,Hypoplasia of eyelid ,眼睑发育不全,Developmental hypoplasia of the eyelid. ,校对中... +HP:0430015,Abnormal morphology of musculature of pharynx ,咽部肌肉组织形态异常,An abnormality of any of the muscles of the pharynx. ,校对中... +HP:0430021,Abnormal common carotid artery morphology ,颈总动脉形态异常,"An abnormality of the common carotid arteries, which provide the arterial supply to the head and neck and give rise to the internal carotid artery and the external carotid artery. ",校对中... +HP:0430022,Abnormality of the sphenoid sinus ,蝶窦异常,"An abnormality of the sphenoid sinus, one of the mucosa-lined, normally air-filled paranasal sinuses of the bones of the skull. The sphenoid sinus is located within the sphenoid bone. ",校对中... +HP:0430025,Bilateral facial palsy ,双侧面瘫,Two-sided or bilateral weakness of the muscles of facial expression and eye closure. ,校对中... +HP:0430026,Abnormality of the shape of the midface ,面中部形状异常,"An abnormal morphology (form) of the midface or its components, the cheeks, maxilla, zygomatic bone, malar region, and infraorbital rims. ",校对中... +HP:0430028,Hyperplasia of the maxilla ,上颌骨增生,"Abnormally increased dimension of the maxilla, especially relative to the mandible, resulting in a malocclusion or malalignment between the upper and lower teeth or in anterior positioning of the nasal base, increased convexity of the face, increased nasolabial angle, or increased width (transverse dimension of the maxilla. ",校对中... +HP:0500001,Body odor ,体味,A perceived unpleasant smell given off by the body. ,校对中... +HP:0500005,Anal pain ,肛门疼痛,Pain in and around the anus or rectum (perianal region). ,校对中... +HP:0500007,Iris flocculi ,瞳孔缘多发性囊肿,Multiple cysts along the pupillary margin that appear as spherical or tear-drop-shaped pigmented lesions or wrinkled masses emerging from the pupillary border of the iris. ,校对中... +HP:0500009,Dysplastic gangliocytoma of the cerebellum ,小脑发育不良性神经节细胞瘤,"It is a rare, slowly growing tumor of the cerebellum, a gangliocytoma sometimes considered to be a hamartoma, characterized by diffuse hypertrophy of the granular layer of the cerebellum. ",校对中... +HP:0500011,Moon facies ,满月脸,"A rounded, puffy face with fat deposits in the temporal fossa and cheeks, a double chin. ",校对中... +HP:0500018,Abnormal cardiac exercise stress test ,心脏运动负荷试验异常,Abnormal results of exercise on heart function. ,校对中... +HP:0500022,Abnormal circulating dehydroepiandrosterone concentration ,血液脱氢表雄酮水平异常,A deviation from the normal concentration of dehydroepiandrosterone in the circulation. ,校对中... +HP:0500041,Myopic astigmatism ,近视散光,A condition where one or both of the two principal meridians focus in the front of the retina when the eye is at rest. ,校对中... +HP:0500046,Seborrhoeic blepharitis ,脂溢性睑缘炎,Inflamation of the eyelid due to overactivity of the sebaceous gland. ,校对中... +HP:0500070,Conjunctival dermolipoma ,结膜皮肤脂瘤,"A conjuctival lesion composed of adipose tissue and dense connective tissue. Such choristomas of dermal elements are normally found at the outer canthus, and have a gelatinous appearance. Classically, there is an indistinct posterior border (with the lesion frequently extending into the orbit) and a well-demarcated anterior border several millimetres posterior to the limbus. ",校对中... +HP:0500087,Peripapillary atrophy ,视乳头周围萎缩,Thinning in the layers of the retina and retinal pigment epithelium around the optic nerve. ,校对中... +HP:0500089,Optic nerve sheath meningioma ,视神经鞘脑膜瘤,A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2. ,校对中... +HP:0500093,Food allergy ,食物过敏,"Primary food allergies primarily occur as a result (most likely) of gastrointestinal sensitization to predominantly stable food allergens (glycoproteins). A secondary food allergy develops after primary sensitization to airborne allergens (e. g., pollen allergens) with subsequent reactions (due to cross-reactivity) to structurally related often labile allergens in (plant) foods. ",校对中... +HP:0500115,Increased stool urobilinogen concentration ,粪便尿胆原浓度升高,An increased amount of urobilinogen present in the stool. ,校对中... +HP:0500147,Hypoglutaminemia ,低谷氨酰胺血症,Decreased amount of glutamine in the blood. ,校对中... +HP:0500149,Hyperglutamatemia ,高谷氨酸血症,An increased amount of glutamate in the blood. ,校对中... +HP:0500151,Hypercystinemia ,高胱氨酸血症,An increased amount of cystine in the blood. ,校对中... +HP:0500152,Hypocystinemia ,低胱氨酸血症,A decreased amount of cystine in the blood. ,校对中... +HP:0500153,Hyperargininemia ,高精氨酸血症,An increased amount of arginine levels in the blood. ,校对中... +HP:0500163,Hypoornithinemia ,低鸟氨酸血症,An abnormal decrease in ornithine in the blood. ,校对中... +HP:0500167,Hypergastrinemia ,高胃泌素血症,An elevated amount of gastrin in the blood. ,校对中... +HP:0500170,Abnormal concentration of acylcarnitine in the urine ,尿酰基肉碱浓度异常,An abnormal amount of acylcarnitine in the urine. ,校对中... +HP:0500173,Reflex asystolic syncope ,心脏停搏所致的反射性晕厥,"A loss of consciousness followed by stiffening and brief clonic movements affecting some or all limbs, often misinterpreted as an epileptic seizure. ",校对中... +HP:0500181,Hypertaurinemia ,高牛磺酸血症,An increased amount of taurine in the blood. ,校对中... +HP:0500182,Hypotaurinemia ,低牛磺酸血症,A decreased amount of taurine in the blood. ,校对中... +HP:0500198,Decreased CSF glutamine concentration ,脑脊液谷氨酰胺浓度降低,Abnormally decreased levels of glutamine in cerebrospinal fluid. ,校对中... +HP:0500204,Decreased CSF arginine concentration ,脑脊液精氨酸浓度降低,Abnormally decreased levels of arginine in cerebrospinal fluid. ,校对中... +HP:0500208,Increased CSF lysine concentration ,脑脊液赖氨酸浓度升高,Abnormally increased levels of lysine in cerebrospinal fluid. ,校对中... +HP:0500230,Increased CSF glycine concentration ,脑脊液甘氨酸浓度升高,Abnormally increased levels of glycine in cerebrospinal fluid. ,校对中... +HP:0500231,Abnormal CSF pyruvate family amino acid concentration ,脑脊液丙酮酸家族氨基酸浓度异常,Any deviation from the normal concentration of pyruvate-family amino acids in the cerebrospinal fluid. ,校对中... +HP:0500233,Increased CSF alanine concentration ,脑脊液丙氨酸浓度升高,Abnormally increased levels of alanine in cerebrospinal fluid. ,校对中... +HP:0500239,Increased CSF albumin concentration ,脑脊液白蛋白浓度升高, , +HP:0500243,Abnormal CSF ornithine concentration ,脑脊液鸟氨酸浓度异常,Any deviation from the normal concentration of ornithine in the cerebrospinal fluid. ,校对中... +HP:0500253,Increased level of gamma-aminobutyric acid in urine ,尿液γ-氨基丁酸水平升高,Elevated concentration of gamma-aminobutyric acid in the urine. ,校对中... +HP:0500262,Atrichia ,无毛症,The most dramatic and severe form of hair loss characterized by an absence of hair follicles. ,校对中... +HP:0500270,Increased proportion of gamma-delta T cells ,γ-δT细胞比例增高,Increased proportion of gamma-delta T cells relative to the total number of T cells. ,校对中... +HP:0550004,Verruca plana ,扁平疣,"Slightly raised wart 2-5 mm in diameter often associated with viral infections, commonly persistent in immunodeficient individuals. ",校对中... +HP:3000005,Abnormality of masseter muscle ,咬肌异常,An abnormality of a masseter muscle. ,校对中... +HP:3000010,Abnormality of orbicularis oris muscle ,口轮匝肌异常,An abnormality of an orbicularis oris muscle. ,校对中... +HP:3000019,Abnormality of buccal mucosa ,颊粘膜异常,An abnormality of a buccal mucosa. ,校对中... +HP:3000037,Abnormality of neck blood vessel ,颈部血管异常,"An abnormality of a blood vessel of the neck, including branches of the arterial and venous systems of the neck. ",校对中... +HP:3000038,Abnormal cricoid cartilage morphology ,环状软骨形态异常,"Any structural abnormality of a cricoid cartilage, that is, of the ring-shaped cartilage of the larynx. ",校对中... +HP:3000050,Abnormality of odontoid tissue ,齿状突组织异常,An abnormality of an odontoid tissue. ,校对中... +HP:3000052,Abnormality of hyoid bone ,舌骨异常,An abnormality of a hyoid bone. ,校对中... +HP:3000062,Abnormal internal carotid artery morphology ,颈内动脉形态异常,An abnormality of an internal carotid artery. ,校对中... +HP:4000004,Myocardial late gadolinium enhancement ,心肌钆对比剂延迟强化,Areas of high signal intensity in magnetic resonance imaging of the heart appearing 10 to 15 minutes after injection of the intercellular contrast agent gadolinium. ,校对中... +HP:4000007,Bronchoconstriction ,支气管收缩,Tightening of smooth muscle surrounding the bronchi and bronchioles with consequent wheezing and shortness of breath. ,校对中... +HP:4000008,Formation of multiple pronuclei during fertilization ,受精过程中多原核的形成,"Pronuclei formation is a critical process during fertilisation. Normally, there are two pronuclei (2PN), including the paternal pronucleus and the maternal pronucleus, in the zygote after fertilisation. It is generally accepted that multiple pronuclei (MPN) formation is due to the abnormal extrusion of the second polar body or to abnormal fertilisation with multiple sperm. The MPN therefore can cause infertility and recurrent failure of IVF/ICSI. ",校对中... +HP:4000010,Impaired renal tubular reabsorption of bicarbonate ,肾小管重吸收受损（肾小管重吸收碳酸氢盐受损）,Decreased renal tubular reabsorption of bicarbonate. ,校对中... +HP:4000039,Reduced proportion of mucosal-associated invariant T cells ,减少黏膜相关恒定 T 细胞比例减低,A decreased proportion of circulating mucosal-associated invariant T (MAIT) cells relative to total T cell count. ,校对中... +HP:4000041,AA amyloidosis ,AA淀粉样变,"Extracellular tissue deposition of fibrils that are composed of fragments of and/or intact serum amyloid A protein, a hepatic acute phase reactant. ",校对中... +HP:4000057,Decreased FasL-mediated apoptosis ,FasL介导的凋亡减少,"A reduced amount of programmed cell death upon stimulation of the FAS receptor, which normally induces caspase-8 dependent apoptosis. ",校对中... +HP:4000061,Pancreatic alpha-cell hyperplasia ,胰腺α细胞增生,A diffuse and specific increase in the number of alpha-cells. ,校对中... +HP:4000067,未找到信息,-,-,-