TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:399086):
Distal myopathy type 3
HNRNPA1-related adult-onset distal myopathy
Finnish upper limb-onset distal myopathy
MPD3

Associated phenotypes (HPO):
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0008180
hpo_term: Mildly elevated creatine kinase
chpo_term: 肌酸磷酸激酶轻度升高
id: HP:0008954
hpo_term: Intrinsic hand muscle atrophy
chpo_term: 手部内在肌萎缩
id: HP:0009005
hpo_term: Weakness of the intrinsic hand muscles
chpo_term: 手内在肌无力
id: HP:0009031
hpo_term: Amyotrophy of ankle musculature
chpo_term: 踝部肌肉萎缩
id: HP:0009063
hpo_term: Progressive distal muscle weakness
chpo_term: 进行性远端肌无力
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0009073
hpo_term: Progressive proximal muscle weakness
chpo_term: 进行性近端肌无力
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
Disease (ORPHA:2801):
Juvenile Paget disease
Familial osteoectasia
JPG
Hereditary hyperphosphatasia
Hyperostosis corticalis deformans juvenilis

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004437
hpo_term: Cranial hyperostosis
chpo_term: 颅骨骨质增生
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0100670
hpo_term: Coarse metaphyseal trabecularization
chpo_term: 干骺端小梁增粗
Disease (ORPHA:2802):
Pagon-Bird-Detter syndrome
X-linked sideroblastic anemia with ataxia
X-linked sideroblastic anemia and spinocerebellar ataxia
XLSA-A

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0012187
hpo_term: Increased erythrocyte protoporphyrin concentration
chpo_term: 红细胞原卟啉浓度增高
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001924
hpo_term: Sideroblastic anemia
chpo_term: 铁粒幼细胞性贫血
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0011273
hpo_term: Anisocytosis
chpo_term: 红细胞大小不均
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0004447
hpo_term: Poikilocytosis
chpo_term: 异形性红细胞
id: HP:0020081
hpo_term: Pappenheimer bodies
chpo_term: 帕彭海默小体
id: HP:0034499
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001992
hpo_term: Organic aciduria
chpo_term: 有机酸尿症
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
Disease (ORPHA:2804):
W syndrome
Pallister-W syndrome

Associated phenotypes (HPO):
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
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:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001137
hpo_term: Alternating esotropia
chpo_term: 交替性内斜视
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:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006293
hpo_term: Agenesis of maxillary central incisor
chpo_term: 上颌中切牙发育不全
id: HP:0010809
hpo_term: Broad uvula
chpo_term: 宽悬雍垂
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0100037
hpo_term: Abnormality of the scalp hair
chpo_term: 头皮毛发异常
id: HP:0100268
hpo_term: Upper lip pit
chpo_term: 上唇点凹
Disease (ORPHA:2806):
Van Bogaert disease
SSPE
Subacute inclusion body encephalitis
Dawson encephalitis
Subacute sclerosing panencephalitis
Subacute sclerosing leukoencephalitis
Van Bogaert encephalitis

Associated phenotypes (HPO):
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0010856
hpo_term: EEG with periodic complexes
chpo_term: 脑电图，周期复合波
id: HP:0010856
hpo_term: EEG with periodic complexes
chpo_term: 脑电图，周期复合波
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:0012424
hpo_term: Chorioretinitis
chpo_term: 脉络膜视网膜炎
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012672
hpo_term: Akinetic mutism
chpo_term: 运动不能缄默症
id: HP:0030891
hpo_term: Periventricular white matter hyperintensities
chpo_term: 脑室旁白质高信号
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
id: HP:0430088
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000573
hpo_term: Retinal hemorrhage
chpo_term: 视网膜出血
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0012708
hpo_term: Reduced brain N-acetyl aspartate level by MRS
chpo_term: 通过MRS发现N-乙酰天门冬氨酸水平降低
id: HP:0012709
hpo_term: Abnormal brain choline/creatine ratio by MRS
chpo_term: 磁共振脑胆碱/肌酐比值异常
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:6000397
Disease (ORPHA:219):
LGMD due to delta-sarcoglycan deficiency
Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2F
LGMD2F
LGMD type 2F
Delta-sarcoglycan-related LGMD R6
Delta-sarcoglycanopathy
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Limb-girdle muscular dystrophy type 2F

Associated phenotypes (HPO):
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0008948
hpo_term: Proximal upper limb amyotrophy
chpo_term: 上肢近端肌萎缩
id: HP:0008956
hpo_term: Proximal lower limb amyotrophy
chpo_term: 下肢近端肌肉萎缩
id: HP:0009055
hpo_term: Generalized limb muscle atrophy
chpo_term: 广泛性四肢肌肉萎缩
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
Disease (ORPHA:218):
Darier disease
Darier-White disease
Keratosis follicularis

Associated phenotypes (HPO):
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0008410
hpo_term: Subungual hyperkeratotic fragments
chpo_term: 甲下片状角化过度
id: HP:0045059
hpo_term: Hyperkeratotic papule
chpo_term: 角化过度性丘疹
id: HP:0200016
hpo_term: Acrokeratosis
chpo_term: 肢端角化症
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0000982
hpo_term: Palmoplantar keratoderma
chpo_term: 掌跖角化症
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0005212
hpo_term: Anal mucosal leukoplakia
chpo_term: 肛门粘膜白斑
id: HP:0010610
hpo_term: Palmar pits
chpo_term: 手掌点状隐窝
id: HP:0010612
hpo_term: Plantar pits
chpo_term: 跖部隐窝
id: HP:0031288
hpo_term: Cobblestone-like hyperkeratosis
chpo_term: 鹅卵石样角化过度
id: HP:6001074
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
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:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0011859
hpo_term: Punctate keratitis
chpo_term: 点状角膜炎
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
Disease (ORPHA:168984):
CLAPO syndrome

Associated phenotypes (HPO):
id: HP:0005306
hpo_term: Capillary hemangioma
chpo_term: 毛细血管瘤
id: HP:0031487
hpo_term: Capillary malformation of the lip
chpo_term: 唇部毛细血管畸形
id: HP:0001052
hpo_term: Nevus flammeus
chpo_term: 鲜红斑痣
id: HP:0001528
hpo_term: Hemihypertrophy
chpo_term: 偏身肥大
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0100764
hpo_term: Lymphangioma
chpo_term: 淋巴管瘤
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0004099
hpo_term: Macrodactyly
chpo_term: 巨指
id: HP:0012721
hpo_term: Venous malformation
chpo_term: 静脉畸形
id: HP:0100553
hpo_term: Hemihypertrophy of lower limb
chpo_term: 下肢偏身肥大
id: HP:0100554
hpo_term: Hemihypertrophy of upper limb
chpo_term: 上肢偏身肥大
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0003005
hpo_term: Ganglioneuroma
chpo_term: 神经节瘤
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:280229):
Pelizaeus-Merzbacher disease in female carriers

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
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:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0007413
hpo_term: Nevus flammeus of the forehead
chpo_term: 前额鲜红斑痣
id: HP:0010936
hpo_term: Abnormality of the lower urinary tract
chpo_term: 下尿路异常
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0011343
hpo_term: Moderate global developmental delay
chpo_term: 中度全面发育延迟
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0030784
hpo_term: Anomic aphasia
chpo_term: 命名性失语症
id: HP:0030890
hpo_term: Hyperintensity of cerebral white matter on MRI
chpo_term: MRI脑白质高信号
id: HP:0032044
hpo_term: Decreased vigilance
chpo_term: 警觉性降低
id: HP:0032588
hpo_term: Hand apraxia
chpo_term: 手失用症
Disease (ORPHA:215):
Congenital essential nyctalopia
Congenital stationary night blindness

Associated phenotypes (HPO):
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0030469
hpo_term: Abnormal dark-adapted electroretinogram
chpo_term: 暗适应视网膜电图异常
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0030638
hpo_term: Congenital stationary night blindness with normal fundus
chpo_term: 先天性静止性夜盲伴眼底正常
id: HP:0030639
hpo_term: Congenital stationary night blindness with abnormal fundus
chpo_term: 先天性静止性夜盲伴眼底异常
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0007984
hpo_term: Electronegative electroretinogram
chpo_term: 视网膜电流图负波形
id: HP:0030483
hpo_term: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
chpo_term: 暗适应暗淡闪光视网膜电图振幅降低
id: HP:0031705
hpo_term: Compensatory head posture
chpo_term: 代偿性头部姿势
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0030329
hpo_term: Retinal thinning
chpo_term: 视网膜变薄
Disease (ORPHA:214):
Cystinuria
Cystinuria-lysinuria syndrome

Associated phenotypes (HPO):
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0003131
hpo_term: Cystinuria
chpo_term: 胱氨酸尿症
id: HP:0004337
hpo_term: Abnormality of amino acid metabolism
chpo_term: 氨基酸代谢异常
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0012088
hpo_term: Abnormal urinary odor
chpo_term: 尿味异常
id: HP:0012405
hpo_term: Hypocitraturia
chpo_term: 低枸橼酸尿
id: HP:0030157
hpo_term: Flank pain
chpo_term: 侧腹疼痛
id: HP:0033067
hpo_term: Cystine crystalluria
chpo_term: 胱氨酸结晶尿
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0003149
hpo_term: Hyperuricosuria
chpo_term: 高尿酸尿症
Disease (ORPHA:217):
Isolated Dandy-Walker malformation

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
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:0002691
hpo_term: Platybasia
chpo_term: 颅底扁平症
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002198
hpo_term: Dilated fourth ventricle
chpo_term: 第四脑室扩张
id: HP:0005445
hpo_term: Enlarged posterior fossa
chpo_term: 后颅窝增宽
id: HP:0006817
hpo_term: Aplasia/Hypoplasia of the cerebellar vermis
chpo_term: 小脑蚓部发育缺陷/发育不全
id: HP:0010952
hpo_term: Mild fetal ventriculomegaly
chpo_term: 轻度胎儿脑室扩大
id: HP:0011427
hpo_term: Enlarged fetal cisterna magna
chpo_term: 胎儿小脑延髓池扩大
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
Disease (ORPHA:257):
EBS with muscular dystrophy
Limb-girdle muscular dystrophy with epidermolysis bullosa simplex
EBS-MD
Epidermolysis bullosa simplex with muscular dystrophy

Associated phenotypes (HPO):
id: HP:0000597
hpo_term: Ophthalmoparesis
chpo_term: 眼肌瘫痪
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0001812
hpo_term: Hyperconvex fingernails
chpo_term: 指甲异常凸起
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0010529
hpo_term: Echolalia
chpo_term: 模仿性言语
id: HP:0010547
hpo_term: Muscle flaccidity
chpo_term: 肌无力
id: HP:0012246
hpo_term: Oculomotor nerve palsy
chpo_term: 动眼神经麻痹
id: HP:0200037
hpo_term: Skin vesicle
chpo_term: 表皮水疱
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0003473
hpo_term: Fatigable weakness
chpo_term: 疲劳性肌无力
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:256):
EOTD
Early-onset isolated dystonia
Oppenheim dystonia
Early-onset generalized limb-onset dystonia
Early-onset primary dystonia
Early-onset torsion dystonia
Early-onset generalized torsion dystonia
Dystonia musculorum deformans
Idiopathic torsion dystonia

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
Disease (ORPHA:300373):
X-linked acrogigantism
Hereditary infantile gigantism
Infantile gigantism due to pituitary hyperplasia
Hereditary pituitary hyperplasia
Familial infantile gigantism
X-LAG

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0012503
hpo_term: Abnormality of the pituitary gland
chpo_term: 垂体异常
id: HP:0030269
hpo_term: Increased circulating insulin-like growth factor 1 concentration
chpo_term: 循环胰岛素样因子1水平升高
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0004924
hpo_term: Abnormal oral glucose tolerance
chpo_term: 口服葡萄糖耐量异常
id: HP:0008283
hpo_term: Fasting hyperinsulinemia
chpo_term: 空腹高胰岛素血症
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0025163
hpo_term: Abnormality of optic chiasm morphology
chpo_term: 视交叉形态异常
id: HP:0025267
hpo_term: Snoring
chpo_term: 打鼾
id: HP:0031098
hpo_term: Decreased thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平降低
id: HP:0031418
hpo_term: Increased body mass index
chpo_term: 体重指数增加
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000699
hpo_term: Diastema
chpo_term: 牙间隙
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001123
hpo_term: Visual field defect
chpo_term: 视野缺损
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001626
hpo_term: Abnormality of the cardiovascular system
chpo_term: 心血管系统的任何异常。
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0012505
hpo_term: Enlarged pituitary gland
chpo_term: 垂体增大
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (ORPHA:248):
Autosomal recessive anhidrotic ectodermal dysplasia
Autosomal recessive hypohidrotic ectodermal dysplasia
AR-HED

Associated phenotypes (HPO):
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0008388
hpo_term: Abnormal toenail morphology
chpo_term: 趾甲形态异常
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常