TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:423479):
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency

Associated phenotypes (HPO):
id: HP:0008058
hpo_term: Aplasia/Hypoplasia of the optic nerve
chpo_term: 视神经发育缺陷/不全
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011471
hpo_term: Gastrostomy tube feeding in infancy
chpo_term: 婴儿期胃造口管饲
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0030211
hpo_term: Slow pupillary light response
chpo_term: 瞳孔对光反应缓慢
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0030921
hpo_term: 5-minute APGAR score of 1
chpo_term: 5分钟APGAR评分1分
id: HP:0030927
hpo_term: 1-minute APGAR score of 0
chpo_term: 1分钟APGAR评分0分
id: HP:0011903
hpo_term: HbH hemoglobin
chpo_term: 血红蛋白H
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0001116
hpo_term: Macular coloboma
chpo_term: 黄斑缺损
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001525
hpo_term: Severe failure to thrive
chpo_term: 严重生长障碍
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004639
hpo_term: Elevated amniotic fluid alpha-fetoprotein
chpo_term: 羊水甲胎蛋白升高
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0007965
hpo_term: Undetectable visual evoked potentials
chpo_term: 视觉诱发电位无波形
Disease (ORPHA:3097):
Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome
Meacham syndrome
Meacham-Winn-Culler syndrome

Associated phenotypes (HPO):
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000142
hpo_term: Abnormal vagina morphology
chpo_term: 阴道形态异常
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0011027
hpo_term: Abnormal fallopian tube morphology
chpo_term: 输卵管形态异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0030010
hpo_term: Hydrometrocolpos
chpo_term: 子宫阴道积水
id: HP:0100632
hpo_term: Pulmonary sequestration
chpo_term: 肺隔离症
id: HP:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001650
hpo_term: Aortic valve stenosis
chpo_term: 主动脉瓣狭窄
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001710
hpo_term: Conotruncal defect
chpo_term: 圆锥动脉干缺损
id: HP:0001743
hpo_term: Abnormality of the spleen
chpo_term: 脾脏异常
id: HP:0004736
hpo_term: Crossed fused renal ectopia
chpo_term: 融合肾移向一侧
id: HP:0010772
hpo_term: Anomalous pulmonary venous return
chpo_term: 肺静脉回流异常
Disease (ORPHA:3098):
Rhizomelic syndrome, Urbach type

Associated phenotypes (HPO):
id: HP:0000157
hpo_term: Abnormality of the tongue
chpo_term: 舌异常
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0031095
hpo_term: Abnormal humerus morphology
chpo_term: 肱骨形态异常
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
Disease (ORPHA:88639):
Methacrylic aciduria
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Valine metabolic defect
HIBCH deficiency

Associated phenotypes (HPO):
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003287
hpo_term: Abnormality of mitochondrial metabolism
chpo_term: 线粒体代谢异常
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0011334
hpo_term: Facial shape deformation
chpo_term: 脸型异常
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0012697
hpo_term: Small basal ganglia
chpo_term: 小基底神经节
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
Disease (ORPHA:217335):
Macrocephaly-alopecia-cutis laxa-scoliosis syndrome
RIN2 deficiency
Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome
MACS syndrome
RIN2 syndrome

Associated phenotypes (HPO):
id: HP:0000159
hpo_term: Abnormal lip morphology
chpo_term: 唇形态异常
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0011232
hpo_term: Infra-orbital fold
chpo_term: 眶下皱襞
id: HP:0012724
hpo_term: Upper eyelid edema
chpo_term: 上眼睑水肿
id: HP:0040079
hpo_term: Irregular dentition
chpo_term: 牙列不规则
id: HP:0000766
hpo_term: Abnormal sternum morphology
chpo_term: 胸骨形态异常
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
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:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
Disease (ORPHA:88637):
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
4H syndrome

Associated phenotypes (HPO):
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
Disease (ORPHA:411493):
Pontocerebellar hypoplasia type 10
PCH10
CLP1-related pontocerebellar hypoplasia

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002538
hpo_term: Abnormal cerebral cortex morphology
chpo_term: 大脑皮层形态异常
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0002363
hpo_term: Abnormal brainstem morphology
chpo_term: 脑干形态异常
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
id: HP:0025405
hpo_term: Visual fixation instability
chpo_term: 固视不稳定
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
Disease (ORPHA:88635):
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Vacuolar aggregate myopathy
Myopathy due to calsequestrin and SERCA1 protein overload

Associated phenotypes (HPO):
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
Disease (ORPHA:3099):
Rheumatic fever
Acute rheumatic fever

Associated phenotypes (HPO):
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
id: HP:0001646
hpo_term: Abnormal aortic valve morphology
chpo_term: 主动脉瓣形态异常
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
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:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002039
hpo_term: Anorexia
chpo_term: 厌食症
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0010318
hpo_term: Aplasia/Hypoplasia of the abdominal wall musculature
chpo_term: 腹壁肌群发育不良/发育不全
id: HP:0010522
hpo_term: Dyslexia
chpo_term: 失读症
id: HP:0010526
hpo_term: Dysgraphia
chpo_term: 书写困难
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0100248
hpo_term: Hemiballismus
chpo_term: 偏侧投掷/偏侧投掷症
id: HP:0100584
hpo_term: Endocarditis
chpo_term: 心内膜炎
id: HP:0100749
hpo_term: Chest pain
chpo_term: 胸痛
id: HP:0100776
hpo_term: Recurrent pharyngitis
chpo_term: 复发性咽炎
Disease (ORPHA:897):
Waardenburg-Hirschsprung syndrome
Shah-Waardenburg syndrome
Waardenburg-Shah syndrome
WS4
Waardenburg syndrome type 4

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0001341
hpo_term: Olfactory lobe agenesis
chpo_term: 嗅叶不发育
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0002226
hpo_term: White eyebrow
chpo_term: 白眉
id: HP:0002227
hpo_term: White eyelashes
chpo_term: 白睫
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0005599
hpo_term: Hypopigmentation of hair
chpo_term: 毛发色素减退
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
Disease (ORPHA:896):
Waardenburg syndrome type 3
Klein-Waardenburg syndrome
WS3
Waardenburg syndrome type III
Waardenburg syndrome with limb anomalies

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0001167
hpo_term: Abnormality of finger
chpo_term: 手指异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0002817
hpo_term: Abnormality of the upper limb
chpo_term: 上肢异常
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0010804
hpo_term: Tented upper lip vermilion
chpo_term: 帐篷状上唇
id: HP:0011364
hpo_term: White hair
chpo_term: 白发
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100750
hpo_term: Atelectasis
chpo_term: 肺不张
Disease (ORPHA:168782):
Dementia infantilis
Childhood disintegrative disorder
Heller syndrome

Associated phenotypes (HPO):
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0007064
hpo_term: Progressive language deterioration
chpo_term: 渐进式的语言恶化
id: HP:0100851
hpo_term: Abnormal emotion/affect behavior
chpo_term: 异常情绪/情感行为
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0012760
hpo_term: Impaired social reciprocity
chpo_term: 社会交互作用障碍
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002607
hpo_term: Bowel incontinence
chpo_term: 大便失禁
id: HP:0007086
hpo_term: Social and occupational deterioration
chpo_term: 社交和职业退化
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
Disease (ORPHA:3080):
Intellectual disability, Wolff type
Wolff-Zimmermann syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0008559
hpo_term: Hypoplastic superior helix
chpo_term: 耳轮上部发育不全
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:3082):
Intellectual disability-polydactyly-uncombable hair syndrome
Kozlowski-Krajewska syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001991
hpo_term: Aplasia/Hypoplasia of toe
chpo_term: 脚趾发育不良/发育不全
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002217
hpo_term: Slow-growing hair
chpo_term: 毛发生长缓慢
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004299
hpo_term: Hernia of the abdominal wall
chpo_term: 腹壁疝
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006265
hpo_term: Aplasia/Hypoplasia of fingers
chpo_term: 手指发育不良/发育不全
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0009738
hpo_term: Abnormal antihelix morphology
chpo_term: 对耳轮形态异常
id: HP:0009896
hpo_term: Abnormal antitragus morphology
chpo_term: 对耳屏形态异常
id: HP:0009906
hpo_term: Aplasia/Hypoplasia of the earlobes
chpo_term: 耳垂发育缺陷/不全
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0010508
hpo_term: Metatarsus valgus
chpo_term: 跖骨外翻
id: HP:0010978
hpo_term: Abnormality of immune system physiology
chpo_term: 免疫系统功能异常
id: HP:0030056
hpo_term: Uncombable hair
chpo_term: 蓬发
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全