TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:235200):
Hemochromatosis, type 1
HEMOCHROMATOSIS, TYPE 1

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:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0003452
hpo_term: Increased serum iron
chpo_term: 血清铁离子增高
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000029
hpo_term: Testicular atrophy
chpo_term: 睾丸萎缩
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
Disease (OMIM:618165):
BONE MARROW FAILURE SYNDROME 5
Bone marrow failure syndrome 5

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0031413
hpo_term: Short telomere length
chpo_term: 端粒缩短
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0012410
hpo_term: Pure red cell aplasia
chpo_term: 纯红细胞再生障碍性贫血
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000029
hpo_term: Testicular atrophy
chpo_term: 睾丸萎缩
id: HP:0007588
hpo_term: Reticular hyperpigmentation
chpo_term: 网状色素沉着
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0002745
hpo_term: Oral leukoplakia
chpo_term: 口腔白斑
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:610539):
GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
Gaucher disease, atypical

Associated phenotypes (HPO):
id: HP:0003148
hpo_term: Elevated serum acid phosphatase
chpo_term: 血清酸性磷酸酶升高
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0011813
hpo_term: Increased cerebral lipofuscin
chpo_term: 脑脂褐素增加
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0012432
hpo_term: Chronic fatigue
chpo_term: 慢性疲劳
id: HP:0000605
hpo_term: Supranuclear gaze palsy
chpo_term: 核上性凝视麻痹
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0020221
hpo_term: Clonic seizure
chpo_term: 阵挛性癫痫发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0006897
hpo_term: Abducens palsy
chpo_term: 外展神经麻痹
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0004975
hpo_term: Erlenmeyer flask deformity of the femurs
chpo_term: 股骨锥形瓶状变形
Disease (OMIM:615441):
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS
Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness

Associated phenotypes (HPO):
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0031273
hpo_term: Shock
chpo_term: 休克
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001657
hpo_term: Prolonged QT interval
chpo_term: QT间期延长
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0031677
hpo_term: Polymorphic ventricular tachycardia
chpo_term: 多形性室性心动过速
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
Disease (DECIPHER:3):
Williams-Beuren Syndrome (WBS)

Associated phenotypes (HPO):
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:613024):
FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1
Follicular lymphoma, susceptibility to, 1

Associated phenotypes (HPO):
id: HP:0033125
hpo_term: Follicular lymphoma
chpo_term: 滤泡淋巴瘤
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
Disease (OMIM:102400):
ACROOSTEOLYSIS

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0009771
hpo_term: Osteolytic defects of the phalanges of the hand
chpo_term: 指骨溶骨缺陷
id: HP:0010177
hpo_term: Osteolytic defects of the phalanges of the toes
chpo_term: 趾骨溶骨性缺陷
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:175850):
Porokeratosis plantaris, palmaris, et disseminata
POROKERATOSIS 2, PALMAR, PLANTAR, AND DISSEMINATED TYPE

Associated phenotypes (HPO):
id: HP:0100869
hpo_term: Palmar telangiectasia
chpo_term: 手掌毛细血管扩张
id: HP:0200044
hpo_term: Porokeratosis
chpo_term: 汗孔角化病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0100870
hpo_term: Plantar telangiectasia
chpo_term: 跖部毛细血管扩张
Disease (OMIM:186700):
SYRINGOMYELIA, NONCOMMUNICATING ISOLATED
Syringomyelia, isolated

Associated phenotypes (HPO):
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002277
hpo_term: Horner syndrome
chpo_term: 霍纳综合征
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
id: HP:0012046
hpo_term: Areflexia of upper limbs
chpo_term: 上肢反射消失
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005878
hpo_term: Enlarged sagittal diameter of the cervical canal
chpo_term: 颈椎椎管矢状径增大
id: HP:0002699
hpo_term: Abnormal foramen magnum morphology
chpo_term: 枕骨大孔形态异常
Disease (OMIM:106100):
ANGIOEDEMA, HEREDITARY, TYPE I
Angioedema, hereditary, 1

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0033748
hpo_term: Hypoesthesia
chpo_term: 感觉迟钝
id: HP:0005225
hpo_term: Intestinal edema
chpo_term: 肠道水肿
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0025434
hpo_term: Reduced hemolytic complement activity
chpo_term: 溶血补体活性减弱
id: HP:0011855
hpo_term: Pharyngeal edema
chpo_term: 咽部水肿
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0034204
hpo_term: Decreased circulating C1-esterase inhibitor concentration
chpo_term: 循环C1-酯酶抑制因子水平降低
id: HP:0045042
hpo_term: Decreased serum complement C4
chpo_term: 血清补体C4减少
id: HP:0012027
hpo_term: Laryngeal edema
chpo_term: 喉头水肿
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0100539
hpo_term: Periorbital edema
chpo_term: 眶周水肿
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0040078
hpo_term: Axonal degeneration
chpo_term: 轴索变性
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:608404):
PLATELET GLYCOPROTEIN IV DEFICIENCY
Platelet glycoprotein IV deficiency

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001902
hpo_term: Giant platelets
chpo_term: 巨血小板
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (OMIM:617524):
Erythrokeratodermia variabilis et progressiva 2
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 2

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:275630):
CHANARIN-DORFMAN SYNDROME
Chanarin-Dorfman syndrome

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 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
id: HP:0000523
hpo_term: Subcapsular cataract
chpo_term: 囊膜下白内障
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:601346):
Martinez-Frias syndrome
MARTINEZ-FRIAS SYNDROME

Associated phenotypes (HPO):
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0005235
hpo_term: Jejunal atresia
chpo_term: 空肠闭锁
id: HP:0005245
hpo_term: Intestinal hypoplasia
chpo_term: 肠道发育不良
id: HP:0002594
hpo_term: Pancreatic hypoplasia
chpo_term: 胰腺发育不良
id: HP:0005233
hpo_term: Hypoplasia of the gallbladder
chpo_term: 胆囊发育不良
id: HP:0005242
hpo_term: Extrahepatic biliary duct atresia
chpo_term: 肝外胆道闭锁
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
Disease (OMIM:182200):
SELLA TURCICA, BRIDGED
Sella turcica, bridged

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005449
hpo_term: Bridged sella turcica
chpo_term: 桥形蝶鞍
Disease (OMIM:619086):
DEAFNESS, AUTOSOMAL DOMINANT 79
Deafness, autosomal dominant 79

Associated phenotypes (HPO):
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
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:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601811):
PREMATURE AGING SYNDROME, OKAMOTO TYPE
Premature aging syndrome, Okamoto type

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0001871
hpo_term: Abnormality of blood and blood-forming tissues
chpo_term: 血液和造血组织异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001507
hpo_term: Growth abnormality
chpo_term: 生长异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002669
hpo_term: Osteosarcoma
chpo_term: 骨肉瘤
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:618398):
T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
T-cell lymphoma, subcutaneous panniculitis-like

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0011900
hpo_term: Hypofibrinogenemia
chpo_term: 低纤维蛋白原血症
id: HP:0034403
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0012156
hpo_term: Hemophagocytosis
chpo_term: 噬血细胞作用
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:620161):
CONGENITAL MYOPATHY 15
Congenital myopathy 15

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001605
hpo_term: Vocal cord paralysis
chpo_term: 声带麻痹
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:619938):
PREMATURE OVARIAN FAILURE 20
Premature ovarian failure 20

Associated phenotypes (HPO):
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:617915):
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome

Associated phenotypes (HPO):
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:125530):
DERMAL RIDGES, NELSON SYNDROME
Dermal ridges, nelson syndrome

Associated phenotypes (HPO):
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:256200):
Nephrosis with deafness and urinary tract and digital malformations
NEPHROSIS WITH DEAFNESS AND URINARY TRACT AND DIGITAL MALFORMATIONS

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0009650
hpo_term: Short distal phalanx of the thumb
chpo_term: 拇指远节指骨缩短
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0010097
hpo_term: Partial duplication of the distal phalanx of the hallux
chpo_term: 拇趾末节指骨部分重复
id: HP:0010103
hpo_term: Short distal phalanx of hallux
chpo_term: 拇趾末节趾骨短
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009611
hpo_term: Bifid distal phalanx of the thumb
chpo_term: 拇指末节指骨部分重复
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
Disease (OMIM:103285):
Adult syndrome
ADULT SYNDROME

Associated phenotypes (HPO):
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002286
hpo_term: Fair hair
chpo_term: 金发
id: HP:0002561
hpo_term: Absent nipple
chpo_term: 乳头缺失
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0001803
hpo_term: Nail pits
chpo_term: 甲凹点
id: HP:0002557
hpo_term: Hypoplastic nipples
chpo_term: 乳头发育不良
id: HP:0006357
hpo_term: Premature loss of permanent teeth
chpo_term: 恒牙过早脱落
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0002215
hpo_term: Sparse axillary hair
chpo_term: 腋毛稀疏
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0003187
hpo_term: Breast hypoplasia
chpo_term: 乳房发育不良
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0007455
hpo_term: Adermatoglyphia
chpo_term: 皮纹病
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
Disease (OMIM:123155):
Craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus
HYDROCEPHALUS, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0007291
hpo_term: Posterior fossa cyst
chpo_term: 后颅窝囊肿
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:128000):
DYSTELEPHALANGY

Associated phenotypes (HPO):
id: HP:0004226
hpo_term: Curved distal phalanx of the 5th finger
chpo_term: 第五指末节指骨弯曲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传