TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:98933):
Multiple system atrophy, parkinsonian type
MSA-p
MSA, parkinsonian type

Associated phenotypes (HPO):
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002322
hpo_term: Resting tremor
chpo_term: 静止性震颤
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002494
hpo_term: Abnormal rapid eye movement sleep
chpo_term: 快速眼动期睡眠异常
id: HP:0002530
hpo_term: Axial dystonia
chpo_term: 轴向肌张力障碍
id: HP:0004926
hpo_term: Orthostatic hypotension due to autonomic dysfunction
chpo_term: 自主神经功能障碍性体位性低血压
id: HP:0005341
hpo_term: Autonomic bladder dysfunction
chpo_term: 自主性膀胱功能障碍
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0008652
hpo_term: Autonomic erectile dysfunction
chpo_term: 自主性勃起功能障碍
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0010536
hpo_term: Central sleep apnea
chpo_term: 中枢性睡眠呼吸暂停
id: HP:0012332
hpo_term: Abnormal autonomic nervous system physiology
chpo_term: 自主神经系统生理功能异常
id: HP:0012658
hpo_term: Abnormal brain FDG positron emission tomography
chpo_term: 脑FDG正电子发射断层扫描异常
id: HP:0012670
hpo_term: Orthostatic syncope
chpo_term: 直立性晕厥
id: HP:0030015
hpo_term: Female anorgasmia
chpo_term: 女性性感缺失病
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
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:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0100595
hpo_term: Camptocormia
chpo_term: 驼背
Disease (ORPHA:98934):
Huntington disease-like 2
HDL2

Associated phenotypes (HPO):
id: HP:0000751
hpo_term: Personality changes
chpo_term: 性格改变
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002060
hpo_term: Abnormal cerebral morphology
chpo_term: 大脑形态学异常
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002340
hpo_term: Caudate atrophy
chpo_term: 尾状核萎缩
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002476
hpo_term: Primitive reflex
chpo_term: 原始反射
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0004305
hpo_term: Involuntary movements
chpo_term: 不自主运动
id: HP:0010994
hpo_term: Abnormal corpus striatum morphology
chpo_term: 纹状体形态异常
Disease (ORPHA:833):
Encephalopathy due to sulfite oxidase deficiency

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002793
hpo_term: Abnormal pattern of respiration
chpo_term: 呼吸模式异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:832):
SCOT deficiency
OXCT1 deficiency
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Succinyl-CoA acetoacetate transferase deficiency
Succinyl-CoA:3-ketoacid CoA transferase deficiency

Associated phenotypes (HPO):
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:6000361
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0410175
hpo_term: Hyperketonemia
chpo_term: 高酮血症
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
Disease (ORPHA:261304):
Paternal monosomy 20q13.2q13.3
Paternal del(20)(q13.2q13.3)
Paternal 20q13.2q13.3 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
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:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0010781
hpo_term: Skin dimple
chpo_term: 皮肤酒窝征
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
Disease (ORPHA:363454):
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
SMALED2

Associated phenotypes (HPO):
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0005853
hpo_term: Congenital foot contraction deformities
chpo_term: 先天性足挛缩变形
id: HP:0008944
hpo_term: Distal lower limb amyotrophy
chpo_term: 下肢远端肌肉肌萎缩
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0005109
hpo_term: Abnormality of the Achilles tendon
chpo_term: 跟腱的异常
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0030237
hpo_term: Hand muscle weakness
chpo_term: 手肌无力
Disease (ORPHA:1041):
Generalized fetal edema
Fetal hydrops
Fetal anasarca
HF
Hydrops fetalis

Associated phenotypes (HPO):
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0030005
hpo_term: Capillary leak
chpo_term: 毛细血管渗漏
id: HP:0032548
hpo_term: Increased placental thickness
chpo_term: 胎盘增厚
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
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:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0032169
hpo_term: Severe infection
chpo_term: 重度感染
id: HP:0000079
hpo_term: Abnormality of the urinary system
chpo_term: 泌尿系统异常
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002664
hpo_term: Neoplasm
chpo_term: 肿瘤
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0031110
hpo_term: Twin-to-twin transfusion
chpo_term: 双胎输血
id: HP:0100763
hpo_term: Abnormality of the lymphatic system
chpo_term: 淋巴系统异常
Disease (ORPHA:1040):
Regressive metaphyseal dysplasia
Maroteaux-Verloes-Stanescu syndrome
Metaphyseal anadysplasia

Associated phenotypes (HPO):
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002814
hpo_term: Abnormality of the lower limb
chpo_term: 下肢异常
id: HP:0004039
hpo_term: Abnormal ulnar metaphysis morphology
chpo_term: 尺骨干骺端形态异常
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:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0006501
hpo_term: Aplasia/Hypoplasia of the radius
chpo_term: 桡骨发育不良/发育不全
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
Disease (ORPHA:2370):
Larsen-like osseous dysplasia-short stature syndrome

Associated phenotypes (HPO):
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
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
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
Disease (ORPHA:2379):
Waisman syndrome
Laxova-Opitz syndrome
Early-onset parkinsonism-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:1048):
Isolated anencephaly/exencephaly

Associated phenotypes (HPO):
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
Disease (ORPHA:64752):
Congenital insensitivity to pain and thermal analgesia
CIP
Hereditary sensory and autonomic neuropathy type 5
HSAN5
Hereditary sensory and autonomic neuropathy type V

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000168
hpo_term: Abnormality of the gingiva
chpo_term: 牙龈异常
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000970
hpo_term: Anhidrosis
chpo_term: 无汗症
id: HP:0001058
hpo_term: Poor wound healing
chpo_term: 伤口愈合不良
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002661
hpo_term: Painless fractures due to injury
chpo_term: 外伤性无痛骨折
id: HP:0007021
hpo_term: Pain insensitivity
chpo_term: 疼痛不敏感
id: HP:0007249
hpo_term: Decreased number of small peripheral myelinated nerve fibers
chpo_term: 小的周围有髓鞘神经纤维数量减少
id: HP:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
Disease (ORPHA:163721):
Rolandic epilepsy-speech dyspraxia syndrome

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0011098
hpo_term: Speech apraxia
chpo_term: 失读症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0011196
hpo_term: EEG with focal sharp waves
chpo_term: 脑电图，局灶性尖波
id: HP:0011198
hpo_term: EEG with generalized epileptiform discharges
chpo_term: 脑电图，伴广泛性癫痫样放电
id: HP:0031491
hpo_term: Continuous spike and waves during slow sleep
chpo_term: 慢波睡眠期持续棘慢波的癫痫
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002546
hpo_term: Incomprehensible speech
chpo_term: 难以理解的言语
id: HP:0010300
hpo_term: Abnormally low-pitched voice
chpo_term: 异常低声调
id: HP:0031434
hpo_term: Abnormal speech prosody
chpo_term: 说话韵律异常
Disease (ORPHA:2378):
Sandrow syndrome
Mirror hands and feets-nasal defects syndrome
Laurin-Sandrow syndrome

Associated phenotypes (HPO):
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:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001841
hpo_term: Preaxial foot polydactyly
chpo_term: 轴前多趾
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008368
hpo_term: Tarsal synostosis
chpo_term: 跗骨骨性融合
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0010689
hpo_term: Mirror image polydactyly
chpo_term: 镜像多指（趾）
id: HP:0000366
hpo_term: Abnormality of the nose
chpo_term: 鼻异常
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
id: HP:0009556
hpo_term: Absent tibia
chpo_term: 胫骨缺如
id: HP:0010503
hpo_term: Fibular duplication
chpo_term: 腓骨重复
id: HP:0100524
hpo_term: Limb duplication
chpo_term: 肢体重复
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
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:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
Disease (ORPHA:64753):
SCAR1
SCAN 2
Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0007141
hpo_term: Sensorimotor neuropathy
chpo_term: 感觉运动神经病
id: HP:0000640
hpo_term: Gaze-evoked nystagmus
chpo_term: 凝视诱发眼震
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0001152
hpo_term: Saccadic smooth pursuit
chpo_term: 扫视平滑追视
id: HP:0002141
hpo_term: Gait imbalance
chpo_term: 步态失平衡
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002174
hpo_term: Postural tremor
chpo_term: 姿势性震颤
id: HP:0002346
hpo_term: Head tremor
chpo_term: 头部震颤
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
Disease (ORPHA:1046):
Lethal hemolytic anemia-genital anomalies syndrome
Water-West syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
Disease (ORPHA:2377):
LMS
Laurence-Moon syndrome

Associated phenotypes (HPO):
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0009896
hpo_term: Abnormal antitragus morphology
chpo_term: 对耳屏形态异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002612
hpo_term: Congenital hepatic fibrosis
chpo_term: 先天性肝纤维化
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100627
hpo_term: Displacement of the urethral meatus
chpo_term: 尿道外口异位
Disease (ORPHA:64754):
Nevus comedonicus syndrome

Associated phenotypes (HPO):
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0025249
hpo_term: Comedo
chpo_term: 粉刺
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
Disease (ORPHA:64755):
Becker nevus syndrome
Becker naevus syndrome
Pigmented hairy epidermal naevus
Pigmentary hairy epidermal nevus
Becker melanosis
Pigmented hairy epidermal nevus

Associated phenotypes (HPO):
id: HP:0000045
hpo_term: Abnormality of the scrotum
chpo_term: 阴囊异常
id: HP:0000064
hpo_term: Hypoplastic labia minora
chpo_term: 小阴唇发育不良
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0003724
hpo_term: Shoulder girdle muscle atrophy
chpo_term: 肩胛带肌肉萎缩
id: HP:0005815
hpo_term: Supernumerary ribs
chpo_term: 多余肋
id: HP:0010311
hpo_term: Aplasia/Hypoplasia of the breasts
chpo_term: 乳房发育不全/不良
id: HP:0010566
hpo_term: Hamartoma
chpo_term: 错构瘤
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩