TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:612621):
MENTAL RETARDATION, AUTOSOMAL DOMINANT 5
Intellectual developmental disorder, autosomal dominant 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:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
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:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0011150
hpo_term: Myoclonic absence seizure
chpo_term: 肌阵挛失神发作
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0005988
hpo_term: Congenital muscular torticollis
chpo_term: 先天性肌性斜颈
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:145250):
Hyperpigmentation, familial progressive
HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, FAMILIAL PROGRESSIVE

Associated phenotypes (HPO):
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0007505
hpo_term: Progressive hyperpigmentation
chpo_term: 进行性色素沉着
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001003
hpo_term: Multiple lentigines
chpo_term: 多发性雀斑样痣
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:305800):
MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS, X-LINKED
Membranoproliferative glomerulonephritis, X-linked

Associated phenotypes (HPO):
id: HP:0001693
hpo_term: Cardiac shunt
chpo_term: 心脏分流
id: HP:0000793
hpo_term: Membranoproliferative glomerulonephritis
chpo_term: 膜增生性肾小球肾炎
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
Disease (OMIM:614250):
NARCOLEPSY 7
Narcolepsy 7

Associated phenotypes (HPO):
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0002519
hpo_term: Hypnagogic hallucinations
chpo_term: 睡前幻觉
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0025233
hpo_term: Sleep paralysis
chpo_term: 睡眠瘫痪
id: HP:0002524
hpo_term: Cataplexy
chpo_term: 猝倒症
id: HP:0030050
hpo_term: Narcolepsy
chpo_term: 发作性睡病
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (DECIPHER:32):
22q11 duplication syndrome

Associated phenotypes (HPO):
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:619774):
IMMUNODEFICIENCY 96
Immunodeficiency 96

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
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:0031379
hpo_term: Abnormal T cell proliferation
chpo_term: T细胞异常增殖
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0500270
hpo_term: Increased proportion of gamma-delta T cells
chpo_term: γ-δT细胞比例增高
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:617981):
Erythrocytosis 7
ERYTHROCYTOSIS, FAMILIAL, 7

Associated phenotypes (HPO):
id: HP:0001900
hpo_term: Increased hemoglobin
chpo_term: 血红蛋白增多
id: HP:0001899
hpo_term: Increased hematocrit
chpo_term: 红细胞压积增高
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:300978):
Tonne-Kalscheuer syndrome
TONNE-KALSCHEUER SYNDROME

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0100962
hpo_term: Shyness
chpo_term: 害羞
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0000687
hpo_term: Widely spaced teeth
chpo_term: 牙间隙增宽
id: HP:0000220
hpo_term: Velopharyngeal insufficiency
chpo_term: 腭咽机能不全
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:600231):
PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE
Palmoplantar keratoderma, Bothnian type

Associated phenotypes (HPO):
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007447
hpo_term: Diffuse palmoplantar hyperkeratosis
chpo_term: 弥漫性掌跖角化过度
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:606640):
Amyotrophic lateral sclerosis 3
AMYOTROPHIC LATERAL SCLEROSIS 3

Associated phenotypes (HPO):
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
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:248900):
MAST SYNDROME
Mast syndrome

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0030891
hpo_term: Periventricular white matter hyperintensities
chpo_term: 脑室旁白质高信号
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0012672
hpo_term: Akinetic mutism
chpo_term: 运动不能缄默症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0033683
hpo_term: Jaw hyperreflexia
chpo_term: 下颌反射亢进
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002305
hpo_term: Athetosis
chpo_term: 手足徐动症
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:616335):
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3
Microcephaly and chorioretinopathy, autosomal recessive, 3

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007731
hpo_term: Chorioretinal dysplasia
chpo_term: 脉络膜视网膜发育不良
Disease (OMIM:620687):
MOYAMOYA DISEASE 7
Moyamoya disease 7

Associated phenotypes (HPO):
id: HP:0012495
hpo_term: Posterior cerebral artery stenosis
chpo_term: 大脑后动脉狭窄
id: HP:0100546
hpo_term: Carotid artery stenosis
chpo_term: 颈动脉狭窄
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:272450):
Syndesmodysplasic dwarfism
SYNDESMODYSPLASIC DWARFISM

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:243100):
Internal carotid arteries, hypoplasia of
INTERNAL CAROTID ARTERIES, HYPOPLASIA OF

Associated phenotypes (HPO):
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0005290
hpo_term: Internal carotid artery hypoplasia
chpo_term: 颈内动脉发育不全
Disease (OMIM:307030):
GLYCEROL KINASE DEFICIENCY
Glycerol kinase deficiency

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0007185
hpo_term: Loss of consciousness
chpo_term: 意识丧失
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
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:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0040301
hpo_term: Increased urinary glycerol
chpo_term: 尿液甘油增高
id: HP:0008182
hpo_term: Adrenocortical hypoplasia
chpo_term: 肾上腺皮质发育不全
id: HP:0006280
hpo_term: Chronic pancreatitis
chpo_term: 慢性胰腺炎
id: HP:0040302
hpo_term: Hyperglycerolemia
chpo_term: 高甘油血症
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:4000211
id: HP:0000846
hpo_term: Adrenal insufficiency
chpo_term: 肾上腺功能不全
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:618495):
Immunodeficiency 63 with lymphoproliferation and autoimmunity
IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY

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:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0006527
hpo_term: Lymphocytic interstitial pneumonia
chpo_term: 淋巴细胞性间质性肺炎
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032247
hpo_term: Persistent CMV viremia
chpo_term: 迁延性巨细胞病毒血症
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0033222
hpo_term: Decreased CD4:CD8 ratio
chpo_term: CD4:CD8 比值减低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:619947):
Waardenburg syndrome, type 2F
WAARDENBURG SYNDROME, TYPE 2F

Associated phenotypes (HPO):
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
Disease (OMIM:618481):
DEAFNESS, AUTOSOMAL RECESSIVE 99
Deafness, autosomal recessive 99

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:123880):
Cystic angiomatosis of bone, diffuse
CYSTIC ANGIOMATOSIS OF BONE, DIFFUSE

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0002833
hpo_term: Cystic angiomatosis of bone
chpo_term: 骨囊性血管瘤病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:174700):
POLYDACTYLY, PREAXIAL IV
Polydactyly, preaxial IV

Associated phenotypes (HPO):
id: HP:0011939
hpo_term: 3-4 finger cutaneous syndactyly
chpo_term: 第三-四指皮肤性并指
id: HP:0005688
hpo_term: Dysplastic distal thumb phalanges with a central hole
chpo_term: 伴有中心孔的远端拇指指骨发育不良
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
id: HP:0009942
hpo_term: Duplication of thumb phalanx
chpo_term: 拇指重复
id: HP:0010713
hpo_term: 1-5 toe syndactyly
chpo_term: 第一至第五脚趾并趾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:139600):
Hairy elbows
HAIRY ELBOWS

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004780
hpo_term: Elbow hypertrichosis
chpo_term: 肘部多毛症
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615833):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21
Epileptic encephalopathy, early infantile, 21

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0010818
hpo_term: Generalized tonic seizure
chpo_term: 全面性强直发作
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0011182
hpo_term: Interictal epileptiform activity
chpo_term: 发作间期癫痫样放电
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0031165
hpo_term: Multifocal seizures
chpo_term: 多灶性癫痫发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
Disease (OMIM:182900):
Spherocytosis, type 1
SPHEROCYTOSIS, TYPE 1

Associated phenotypes (HPO):
id: HP:0005502
hpo_term: Increased red cell osmotic fragility
chpo_term: 红细胞渗透脆性增加
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0004444
hpo_term: Spherocytosis
chpo_term: 球形红细胞增多症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001923
hpo_term: Reticulocytosis
chpo_term: 网织红细胞增多症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:601846):
VACUOLAR NEUROMYOPATHY
Vacuolar neuromyopathy

Associated phenotypes (HPO):
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003555
hpo_term: Muscle fiber splitting
chpo_term: 肌纤维分裂
id: HP:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
Disease (OMIM:614293):
HYDATIDIFORM MOLE, RECURRENT, 2
Hydatidiform mole, recurrent, 2

Associated phenotypes (HPO):
id: HP:0032192
hpo_term: Hydatidiform mole
chpo_term: 葡萄胎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:616490):
Joubert syndrome 23
JOUBERT SYNDROME 23

Associated phenotypes (HPO):
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
Disease (OMIM:242550):
ICHTHYOSIS, SPLIT HAIRS, AND AMINO ACIDURIA
Ichthyosis, split hairs, and amino aciduria

Associated phenotypes (HPO):
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0007431
hpo_term: Congenital ichthyosiform erythroderma
chpo_term: 先天性鱼鳞病样红皮病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍