TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2241):
Megacystis-microcolon-intestinal hypoperistalsis syndrome
MMIHS
Berdon syndrome
Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome

Associated phenotypes (HPO):
id: HP:0000021
hpo_term: Megacystis
chpo_term: 巨膀胱症
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004388
hpo_term: Microcolon
chpo_term: 细小结肠
id: HP:0100771
hpo_term: Hypoperistalsis
chpo_term: 蠕动迟缓
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100544
hpo_term: Neoplasm of the heart
chpo_term: 心脏肿瘤
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
Disease (ORPHA:99725):
Hypophyseal gigantism
Pituitary gigantism
Infantile and juvenile forms of acromegaly

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001712
hpo_term: Left ventricular hypertrophy
chpo_term: 左心室肥厚
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0006767
hpo_term: Pituitary prolactin cell adenoma
chpo_term: 垂体泌乳素腺瘤
id: HP:0011407
hpo_term: Proportionate tall stature
chpo_term: 成比例高身材
id: HP:0011760
hpo_term: Pituitary growth hormone cell adenoma
chpo_term: 垂体生长激素腺瘤
id: HP:0012411
hpo_term: Premature pubarche
chpo_term: 阴毛早现
id: HP:0030269
hpo_term: Increased circulating insulin-like growth factor 1 concentration
chpo_term: 循环胰岛素样因子1水平升高
id: HP:0100829
hpo_term: Galactorrhea
chpo_term: 溢乳
Disease (ORPHA:2249):
Ulna hypoplasia-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003027
hpo_term: Mesomelia
chpo_term: 肢体中部不规则缩短
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
Disease (ORPHA:238624):
IIH
Pseudotumor cerebri
Idiopathic intracranial hypertension
Benign intracranial hypertension

Associated phenotypes (HPO):
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0012393
hpo_term: Allergy
chpo_term: 过敏
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0010822
hpo_term: Scintillating scotoma
chpo_term: 闪烁的暗点
id: HP:0100851
hpo_term: Abnormal emotion/affect behavior
chpo_term: 异常情绪/情感行为
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0008629
hpo_term: Pulsatile tinnitus
chpo_term: 搏动性耳鸣
id: HP:0011161
hpo_term: Focal sensory seizure with olfactory features
chpo_term: 有嗅觉特征的局灶性感觉癫痫
Disease (ORPHA:69076):
Familial renal glucosuria
SGLT2 deficiency
Familial renal glycosuria

Associated phenotypes (HPO):
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001946
hpo_term: Ketosis
chpo_term: 酮症
id: HP:0008855
hpo_term: Moderate postnatal growth retardation
chpo_term: 中度产后发育迟缓
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0004924
hpo_term: Abnormal oral glucose tolerance
chpo_term: 口服葡萄糖耐量异常
id: HP:0040214
hpo_term: Abnormal circulating insulin concentration
chpo_term: 循环胰岛素水平异常
id: HP:0040217
hpo_term: Elevated hemoglobin A1c
chpo_term: 糖化血红蛋白水平增高
Disease (ORPHA:69077):
Rhabdoid tumor
Malignant rhabdoid tumor

Associated phenotypes (HPO):
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002301
hpo_term: Hemiplegia
chpo_term: 偏瘫
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002896
hpo_term: Neoplasm of the liver
chpo_term: 肝脏肿瘤
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0004396
hpo_term: Poor appetite
chpo_term: 食欲不振
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0009726
hpo_term: Renal neoplasm
chpo_term: 肾肿瘤
id: HP:0011029
hpo_term: Internal hemorrhage
chpo_term: 内出血
id: HP:0012246
hpo_term: Oculomotor nerve palsy
chpo_term: 动眼神经麻痹
id: HP:0100006
hpo_term: Neoplasm of the central nervous system
chpo_term: 中枢神经系统的肿瘤
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
Disease (ORPHA:69078):
Liposarcoma

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100242
hpo_term: Sarcoma
chpo_term: 肉瘤
Disease (ORPHA:158025):
Hereditary progressive mucinous histiocytosis

Associated phenotypes (HPO):
id: HP:0025475
hpo_term: Erythematous macule
chpo_term: 红斑病
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0040138
hpo_term: Mucinous histiocytosis
chpo_term: 黏液性组织细胞增多症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0031871
hpo_term: Abnormal Langerhans cell morphology
chpo_term: 朗格汉斯细胞形态异常
Disease (ORPHA:370091):
OCA5
Oculocutaneous albinism type 5

Associated phenotypes (HPO):
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001098
hpo_term: Abnormal fundus morphology
chpo_term: 眼底形态异常
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
Disease (ORPHA:2237):
Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
Barakat syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
HDR syndrome

Associated phenotypes (HPO):
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000860
hpo_term: Parathyroid hypoplasia
chpo_term: 甲状旁腺发育不全
id: HP:0002199
hpo_term: Hypocalcemic seizures
chpo_term: 低钙发作
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001153
hpo_term: Septate vagina
chpo_term: 阴道纵膈
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0008850
hpo_term: Severe postnatal growth retardation
chpo_term: 严重的产后生长发育迟缓
id: HP:0011840
hpo_term: Abnormality of T cell physiology
chpo_term: T细胞生理功能异常
Disease (ORPHA:158022):
Progressive nodular histiocytosis

Associated phenotypes (HPO):
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
Disease (ORPHA:2235):
Chang-Davidson-Carlson syndrome
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Associated phenotypes (HPO):
id: HP:0000044
hpo_term: Hypogonadotropic hypogonadism
chpo_term: 低促性腺激素性性腺功能减退症
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000830
hpo_term: Anterior hypopituitarism
chpo_term: 垂体前叶功能减退症
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003164
hpo_term: Hypothalamic gonadotropin-releasing hormone deficiency
chpo_term: 下丘脑促性腺激素释放激素缺乏症
id: HP:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008202
hpo_term: Reduced circulating prolactin concentration
chpo_term: 泌乳素水平下降
id: HP:0008240
hpo_term: Secondary growth hormone deficiency
chpo_term: 继发性生长激素缺乏症
id: HP:0008724
hpo_term: Hypoplasia of the ovary
chpo_term: 卵巢发育不良
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
Disease (ORPHA:2234):
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Sohval-Soffer syndrome

Associated phenotypes (HPO):
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003782
hpo_term: Eunuchoid habitus
chpo_term: 类无睾者习性
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100745
hpo_term: Abnormality of the humeroulnar joint
chpo_term: 肱尺关节异常
Disease (ORPHA:2233):
Cantalamessa-Baldini-Ambrosi syndrome
Hypogonadism-mitral valve prolapse-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000144
hpo_term: Decreased fertility
chpo_term: 生育能力下降
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
Disease (ORPHA:247585):
Adult-onset citrullinemia type II
Citrullinemia type II
Adult-onset citrullinemia type 2
Adult-onset citrin deficiency
CTLN2
Citrullinemia type 2

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0008281
hpo_term: Acute hyperammonemia
chpo_term: 急性高氨血症
id: HP:0011966
hpo_term: Elevated plasma citrulline
chpo_term: 血浆瓜氨酸升高
id: HP:0045082
hpo_term: Decreased body mass index
chpo_term: 体重指数下降
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002329
hpo_term: Drowsiness
chpo_term: 困倦
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0007159
hpo_term: Fluctuations in consciousness
chpo_term: 意识波动
id: HP:0012164
hpo_term: Asterixis
chpo_term: 扑翼样震颤
id: HP:0030166
hpo_term: Night sweats
chpo_term: 盗汗
id: HP:0030765
hpo_term: Sleep terror
chpo_term: 睡惊症
id: HP:0031258
hpo_term: Delirium
chpo_term: 谵妄
id: HP:0100738
hpo_term: Abnormal eating behavior
chpo_term: 进食行为异常
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0000805
hpo_term: Enuresis
chpo_term: 遗尿症
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0012569
hpo_term: Delayed menarche
chpo_term: 月经初潮延迟
id: HP:0100754
hpo_term: Mania
chpo_term: 躁狂
id: HP:0100785
hpo_term: Insomnia
chpo_term: 失眠
Disease (ORPHA:2232):
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Al Awadi-Farag-Teebi syndrome

Associated phenotypes (HPO):
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0008193
hpo_term: Primary gonadal insufficiency
chpo_term: 原发性性腺功能不全
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0003799
hpo_term: Marked delay in bone age
chpo_term: 骨龄显著延迟
id: HP:0005469
hpo_term: Flat occiput
chpo_term: 枕骨扁平
id: HP:0007464
hpo_term: Sparse facial hair
chpo_term: 面部毛发稀疏
id: HP:0008187
hpo_term: Absence of secondary sex characteristics
chpo_term: 第二性征缺乏
id: HP:0008214
hpo_term: Decreased serum estradiol
chpo_term: 血清雌二醇水平降低
id: HP:0008633
hpo_term: Agonadism
chpo_term: 无性腺症
id: HP:0008684
hpo_term: Aplasia/hypoplasia of the uterus
chpo_term: 子宫发育不全/发育不良
id: HP:0010463
hpo_term: Aplasia of the ovary
chpo_term: 卵巢发育不全
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0011961
hpo_term: Non-obstructive azoospermia
chpo_term: 非梗阻性无精症
id: HP:0040171
hpo_term: Decreased serum testosterone concentration
chpo_term: 血清睾酮水平降低
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0003393
hpo_term: Thenar muscle atrophy
chpo_term: 鱼际肌萎缩
id: HP:0006184
hpo_term: Decreased palmar creases
chpo_term: 掌纹减少
id: HP:0009185
hpo_term: Contracture of the proximal interphalangeal joint of the 5th finger
chpo_term: 第五指近节指间关节挛缩
id: HP:0010487
hpo_term: Small hypothenar eminence
chpo_term: 小鱼际小
id: HP:0012506
hpo_term: Small pituitary gland
chpo_term: 垂体缩小
Disease (ORPHA:370097):
OCA6
Oculocutaneous albinism type 6

Associated phenotypes (HPO):
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001098
hpo_term: Abnormal fundus morphology
chpo_term: 眼底形态异常
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0008034
hpo_term: Abnormal iris pigmentation
chpo_term: 虹膜异常色素沉着
id: HP:0008059
hpo_term: Aplasia/Hypoplasia of the macula
chpo_term: 黄斑发育缺陷/不全
id: HP:0030613
hpo_term: Abnormal foveal morphology on macular OCT
chpo_term: OCT 测量法黄斑区中心凹形态异常