TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:137867):
Madras motor neuron disease
MMND

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001621
hpo_term: Weak voice
chpo_term: 嗓音微弱
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0006801
hpo_term: Hyperactive deep tendon reflexes
chpo_term: 腱反射亢进
id: HP:0007289
hpo_term: Limb fasciculations
chpo_term: 肢体肌束颤动
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
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
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
Disease (ORPHA:75858):
MORM syndrome
Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome

Associated phenotypes (HPO):
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0007675
hpo_term: Progressive night blindness
chpo_term: 渐进性夜盲症
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
Disease (ORPHA:3253):
Zlotogora-Ogur syndrome
Cleft lip/palate-syndactyly-pili torti syndrome
Cleft lip/palate-ectodermal dysplasia syndrome
Syndactyly-ectodermal dysplasia-cleft/lip palate
CLPED1

Associated phenotypes (HPO):
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000674
hpo_term: Anodontia
chpo_term: 无牙畸形
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000968
hpo_term: Ectodermal dysplasia
chpo_term: 外胚层发育不良
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
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:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0100337
hpo_term: Bilateral cleft palate
chpo_term: 双侧腭裂
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003777
hpo_term: Pili torti
chpo_term: 卷发
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
Disease (ORPHA:75857):
6q terminal deletion syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001741
hpo_term: Phimosis
chpo_term: 包茎
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0001884
hpo_term: Talipes calcaneovalgus
chpo_term: 跟骨畸形
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0006712
hpo_term: Aplasia/Hypoplasia of the ribs
chpo_term: 肋骨发育不良/发育不全
id: HP:0007165
hpo_term: Periventricular heterotopia
chpo_term: 脑室周围灰质异位
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
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:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
Disease (ORPHA:99802):
Hemimegalencephaly
Unilateral megalencephaly

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0025373
hpo_term: Interictal EEG abnormality
chpo_term: 发作间期脑电图异常
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0000267
hpo_term: Cranial asymmetry
chpo_term: 颅骨不对称
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
id: HP:0002392
hpo_term: EEG with polyspike wave complexes
chpo_term: 脑电图，伴多棘慢复合波
id: HP:0007206
hpo_term: Hemimegalencephaly
chpo_term: 偏侧巨脑/偏侧巨脑畸形
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0011193
hpo_term: EEG with focal spikes
chpo_term: 脑电图，局灶性棘波
id: HP:0011195
hpo_term: EEG with focal sharp slow waves
chpo_term: 脑电图，局灶性尖慢波
id: HP:0011215
hpo_term: Hemihypsarrhythmia
chpo_term: 偏侧高度节律失调
id: HP:0032046
hpo_term: Focal cortical dysplasia
chpo_term: 局灶性皮质发育不良
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002133
hpo_term: Status epilepticus
chpo_term: 癫痫持续状态
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0004302
hpo_term: Functional motor deficit
chpo_term: 功能性运动障碍
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011097
hpo_term: Epileptic spasm
chpo_term: 癫痫性痉挛
id: HP:0011167
hpo_term: Focal tonic seizure
chpo_term: 局灶性强直发作
id: HP:0012246
hpo_term: Oculomotor nerve palsy
chpo_term: 动眼神经麻痹
id: HP:0012377
hpo_term: Hemianopia
chpo_term: 偏盲
id: HP:0012757
hpo_term: Abnormal neuron morphology
chpo_term: 神经元形态异常
Disease (ORPHA:99803):
Haddad syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0002251
hpo_term: Aganglionic megacolon
chpo_term: 无神经节性巨结肠
id: HP:0005957
hpo_term: Breathing dysregulation
chpo_term: 呼吸失调
id: HP:0007110
hpo_term: Central hypoventilation
chpo_term: 中枢性低通气
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: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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
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:0003005
hpo_term: Ganglioneuroma
chpo_term: 神经节瘤
id: HP:0003006
hpo_term: Neuroblastoma
chpo_term: 神经母细胞瘤
Disease (ORPHA:3255):
Filippi syndrome
Type 1 syndactyly-microcephaly-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001864
hpo_term: Clinodactyly of the 5th toe
chpo_term: 第五趾屈曲畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002451
hpo_term: Limb dystonia
chpo_term: 肢体肌张力障碍
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0010550
hpo_term: Paraplegia
chpo_term: 截瘫
id: HP:0010580
hpo_term: Enlarged epiphyses
chpo_term: 骨骺膨大
id: HP:0010624
hpo_term: Aplastic/hypoplastic toenail
chpo_term: 趾甲发育缺陷/不全
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
Disease (ORPHA:3258):
Cenani-Lenz syndrome
Syndactyly type 7
Cenani-Lenz syndactyly
Cenani syndactyly

Associated phenotypes (HPO):
id: HP:0001817
hpo_term: Absent fingernail
chpo_term: 指甲缺损
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0005048
hpo_term: Synostosis of carpal bones
chpo_term: 腕骨骨性融合
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:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0100240
hpo_term: Synostosis of joints
chpo_term: 关节骨性联接
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001849
hpo_term: Foot oligodactyly
chpo_term: 少趾畸形
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004736
hpo_term: Crossed fused renal ectopia
chpo_term: 融合肾移向一侧
id: HP:0007477
hpo_term: Abnormal dermatoglyphics
chpo_term: 皮纹异常
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
Disease (ORPHA:263508):
Congenital disorder of glycosylation type 2g
CDG-IIg
Carbohydrate deficient glycoprotein syndrome type IIg
CDG syndrome type IIg
Congenital disorder of glycosylation type IIg
CDG2G
COG1-CDG

Associated phenotypes (HPO):
id: HP:0012301
hpo_term: Type II transferrin isoform profile
chpo_term: II型转铁蛋白异构体谱
id: HP:0030282
hpo_term: Posterior rib gap
chpo_term: 肋骨后部间隙
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0007112
hpo_term: Temporal cortical atrophy
chpo_term: 颞叶皮质萎缩
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000902
hpo_term: Rib fusion
chpo_term: 肋骨融合
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0001103
hpo_term: Abnormal macular morphology
chpo_term: 黄斑形态异常
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003316
hpo_term: Butterfly vertebrae
chpo_term: 蝴蝶椎
id: HP:0004582
hpo_term: Irregularity of vertebral bodies
chpo_term: 椎体不规则
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0011995
hpo_term: Atrial septal dilatation
chpo_term: 房间隔扩张
Disease (ORPHA:263501):
Congenital disorder of glycosylation type 2j
COG4-CDG
CDG-IIj
CDG2J
CDG syndrome type IIj
Congenital disorder of glycosylation type IIj
Carbohydrate deficient glycoprotein syndrome type IIj

Associated phenotypes (HPO):
id: HP:0012347
hpo_term: Abnormal protein N-linked glycosylation
chpo_term: 蛋白质N-联糖基化异常
id: HP:0012358
hpo_term: Abnormal protein O-linked glycosylation
chpo_term: 蛋白质O-联糖基化异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002254
hpo_term: Intermittent diarrhea
chpo_term: 间歇性腹泻
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0008935
hpo_term: Generalized neonatal hypotonia
chpo_term: 全身性新生儿肌张力低下
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0011172
hpo_term: Complex febrile seizure
chpo_term: 复杂性高热惊厥
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012301
hpo_term: Type II transferrin isoform profile
chpo_term: II型转铁蛋白异构体谱
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0004798
hpo_term: Recurrent infection of the gastrointestinal tract
chpo_term: 胃肠道复发性感染
id: HP:0006583
hpo_term: Fatal liver failure in infancy
chpo_term: 婴儿期致命性肝功能衰竭
id: HP:0040187
hpo_term: Neonatal sepsis
chpo_term: 新生儿败血症
Disease (ORPHA:3240):
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome

Associated phenotypes (HPO):
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0004463
hpo_term: Absent brainstem auditory responses
chpo_term: 脑干听觉反应消失
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0007346
hpo_term: Subcortical white matter calcifications
chpo_term: 皮质下白质钙化
id: HP:0008568
hpo_term: Vestibular areflexia
chpo_term: 前庭反射消失
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化