TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616266):
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
Congenital contractures of the limbs and face, hypotonia, and developmental delay

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0005272
hpo_term: Prominent nasolabial fold
chpo_term: 鼻唇沟突出
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001848
hpo_term: Calcaneovalgus deformity
chpo_term: 足外翻畸形
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0011824
hpo_term: Chin with H-shaped crease
chpo_term: 髁唇沟凹陷
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0006380
hpo_term: Knee flexion contracture
chpo_term: 膝关节屈曲挛缩
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000205
hpo_term: Pursed lips
chpo_term: 撅起的嘴唇
id: HP:0009931
hpo_term: Enlarged naris
chpo_term: 大鼻孔
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:143000):
HORNER SYNDROME, CONGENITAL
Horner syndrome, congenital

Associated phenotypes (HPO):
id: HP:0001100
hpo_term: Heterochromia iridis
chpo_term: 虹膜异色
id: HP:0006837
hpo_term: Congenital Horner syndrome
chpo_term: 先天性霍纳综合征
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0007451
hpo_term: Ipsilateral lack of facial sweating
chpo_term: 患侧面部出汗减少
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:270300):
Peeling skin syndrome 1
PEELING SKIN SYNDROME 1

Associated phenotypes (HPO):
id: HP:0034838
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0007410
hpo_term: Palmoplantar hyperhidrosis
chpo_term: 掌跖多汗症
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:614465):
JOUBERT SYNDROME 16
Joubert syndrome 16

Associated phenotypes (HPO):
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000090
hpo_term: Nephronophthisis
chpo_term: 肾结核
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:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
Disease (OMIM:609352):
EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA
Epidermolysis bullosa simplex 2E, with migratory circinate erythema

Associated phenotypes (HPO):
id: HP:0031180
hpo_term: Erythema migrans
chpo_term: 游走性红斑
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0033802
hpo_term: Intra-epidermal blistering
chpo_term: 表皮内起疱
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:126840):
DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION

Associated phenotypes (HPO):
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002588
hpo_term: Duodenal ulcer
chpo_term: 十二指肠溃疡
id: HP:0003238
hpo_term: Hyperpepsinogenemia I
chpo_term: 高胃蛋白酶原血症
id: HP:0500167
hpo_term: Hypergastrinemia
chpo_term: 高胃泌素血症
Disease (OMIM:619141):
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
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:0010546
hpo_term: Muscle fibrillation
chpo_term: 肌纤维颤动
Disease (OMIM:601068):
EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
Epilepsy, familial adult myoclonic, 1

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0001351
hpo_term: Jerk-locked premyoclonus spikes
chpo_term: 抽动锁时的肌阵挛前棘波
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003680
hpo_term: Nonprogressive
chpo_term: 非进行性
id: HP:0001340
hpo_term: Enhancement of the C-reflex
chpo_term: C-反射增强
id: HP:0010852
hpo_term: EEG with photoparoxysmal response
chpo_term: 脑电图，光阵发性反应
id: HP:0001312
hpo_term: Giant somatosensory evoked potentials
chpo_term: 巨大的体感诱发电位
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:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001326
hpo_term: EEG with irregular generalized spike and wave complexes
chpo_term: 脑电图，不规则的全面性棘慢复合波
Disease (OMIM:274600):
Pendred syndrome
PENDRED SYNDROME

Associated phenotypes (HPO):
id: HP:0025484
hpo_term: Increased circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平增高
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0002890
hpo_term: Thyroid carcinoma
chpo_term: 甲状腺癌
id: HP:0008554
hpo_term: Cochlear malformation
chpo_term: 耳蜗畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008223
hpo_term: Compensated hypothyroidism
chpo_term: 代偿性甲状腺功能减退症
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:600376):
TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2
Telangiectasia, hereditary hemorrhagic, type 2

Associated phenotypes (HPO):
id: HP:0001232
hpo_term: Nail bed telangiectasia
chpo_term: 甲床毛细血管扩张
id: HP:0006548
hpo_term: Pulmonary arteriovenous malformation
chpo_term: 肺动静脉畸形
id: HP:0001694
hpo_term: Right-to-left shunt
chpo_term: 右向左分流
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002140
hpo_term: Ischemic stroke
chpo_term: 缺血性脑卒中
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0007380
hpo_term: Facial telangiectasia
chpo_term: 面部毛细血管扩张
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0100869
hpo_term: Palmar telangiectasia
chpo_term: 手掌毛细血管扩张
id: HP:0006574
hpo_term: Hepatic arteriovenous malformation
chpo_term: 肝动静脉畸形
id: HP:0001901
hpo_term: Polycythemia
chpo_term: 红细胞增多症
id: HP:0000214
hpo_term: Lip telangiectasia
chpo_term: 唇部毛细血管扩张
id: HP:0000434
hpo_term: Nasal mucosa telangiectasia
chpo_term: 鼻粘膜毛细血管扩张
id: HP:0002138
hpo_term: Subarachnoid hemorrhage
chpo_term: 蛛网膜下腔出血
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0030049
hpo_term: Brain abscess
chpo_term: 脑脓肿
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0000471
hpo_term: Gastrointestinal angiodysplasia
chpo_term: 胃肠道血管发育不良
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002390
hpo_term: Spinal arteriovenous malformation
chpo_term: 脊髓动静脉畸形
id: HP:0002629
hpo_term: Gastrointestinal arteriovenous malformation
chpo_term: 胃肠道动静脉畸形
id: HP:0002707
hpo_term: Palate telangiectasia
chpo_term: 腭毛细血管扩张
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000228
hpo_term: Oral cavity telangiectasia
chpo_term: 口腔毛细管扩张
id: HP:0002408
hpo_term: Cerebral arteriovenous malformation
chpo_term: 脑动静脉畸形
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0000227
hpo_term: Tongue telangiectasia
chpo_term: 舌毛细血管扩张
id: HP:0030491
hpo_term: Choriocapillaris atrophy
chpo_term: 脉络膜毛细血管层萎缩
id: HP:0002604
hpo_term: Gastrointestinal telangiectasia
chpo_term: 胃肠道毛细血管扩张
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0002249
hpo_term: Melena
chpo_term: 黑便
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006107
hpo_term: Fingerpad telangiectases
chpo_term: 指垫毛细血管扩张
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血
Disease (OMIM:614303):
Edict syndrome
EDICT SYNDROME

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000563
hpo_term: Keratoconus
chpo_term: 圆锥角膜
id: HP:0001134
hpo_term: Anterior polar cataract
chpo_term: 前极白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:192315):
Vasculopathy, retinal, with cerebral leukodystrophy
VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0031987
hpo_term: Diminished ability to concentrate
chpo_term: 注意力下降
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0002518
hpo_term: Abnormal periventricular white matter morphology
chpo_term: 脑室周围白质形态异常
id: HP:0009763
hpo_term: Limb pain
chpo_term: 肢体疼痛
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001147
hpo_term: Retinal exudate
chpo_term: 视网膜渗出
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0007009
hpo_term: Central nervous system degeneration
chpo_term: 中枢神经系统变性
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0200029
hpo_term: Vasculitis in the skin
chpo_term: 皮肤血管炎
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007017
hpo_term: Progressive forgetfulness
chpo_term: 进行性健忘
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001413
hpo_term: Micronodular cirrhosis
chpo_term: 小结节性肝硬化
id: HP:0200030
hpo_term: Punctate vasculitis skin lesions
chpo_term: 表皮点状血管炎
Disease (OMIM:300803):
Mental retardation, X-linked 97
MENTAL RETARDATION, X-LINKED 97

Associated phenotypes (HPO):
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000283
hpo_term: Broad face
chpo_term: 宽脸
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:617622):
Joubert syndrome 30
JOUBERT SYNDROME 30

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
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:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
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:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0020185
hpo_term: Superior cerebellar dysplasia
chpo_term: 小脑上部发育不良
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
Disease (OMIM:618511):
Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy
NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIC, WITH OPTIC ATROPHY

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0034337
hpo_term: Claw hand deformity
chpo_term: 爪形手畸形
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:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0002403
hpo_term: Positive Romberg sign
chpo_term: 闭目难立征阳性
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
Disease (OMIM:613444):
Chromosome 16p11.2 deletion syndrome, 220kb
CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001466
hpo_term: Contiguous gene syndrome
chpo_term: 邻近基因综合征
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 (OMIM:615035):
SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
Spastic paraplegia 55, autosomal recessive

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0011399
hpo_term: Tibialis anterior muscle atrophy
chpo_term: 胫骨前肌萎缩
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
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:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0006937
hpo_term: Impaired distal tactile sensation
chpo_term: 远端触觉感觉障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003383
hpo_term: Onion bulb formation
chpo_term: 洋葱球形成
id: HP:0011449
hpo_term: Knee clonus
chpo_term: 膝阵挛
id: HP:0007210
hpo_term: Lower limb amyotrophy
chpo_term: 下肢肌萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0006886
hpo_term: Impaired distal vibration sensation
chpo_term: 远端振动觉障碍
Disease (OMIM:238350):
HYPERLEXIA

Associated phenotypes (HPO):
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
Disease (OMIM:227270):
Faciocardiomelic dysplasia, lethal
FACIOCARDIOMELIC DYSPLASIA, LETHAL

Associated phenotypes (HPO):
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000171
hpo_term: Microglossia
chpo_term: 小舌畸形
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0009486
hpo_term: Radial deviation of the hand
chpo_term: 手桡侧偏斜
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
Disease (OMIM:275250):
TONGUE, PIGMENTED FUNGIFORM PAPILLAE OF
Tongue, pigmented fungiform papillae of

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000157
hpo_term: Abnormality of the tongue
chpo_term: 舌异常
Disease (OMIM:611521):
IMMUNODEFICIENCY 35
Immunodeficiency 35

Associated phenotypes (HPO):
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0011274
hpo_term: Recurrent mycobacterial infections
chpo_term: 反复分枝杆菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002841
hpo_term: Recurrent fungal infections
chpo_term: 反复真菌感染
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷