TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:272):
Congenital muscular dystrophy, Fukuyama type
Fukuyama congenital muscular dystrophy
FKTN-related congenital muscular dystrophy
FCMD

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0007260
hpo_term: Type II lissencephaly
chpo_term: Ⅱ型无脑回畸形
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:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0030046
hpo_term: Hypoglycosylation of alpha-dystroglycan
chpo_term: α-抗肌萎缩蛋白聚糖糖基化不良
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:275):
SCID due to ARTEMIS deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
SCID due to DCLRE1C deficiency
Severe combined immunodeficiency due to ARTEMIS deficiency
Severe combined immunodeficiency, Athabascan type
Severe combined immunodeficiency, Athabaskan type
SCID, Athabascan type
SCID, Athabaskan type

Associated phenotypes (HPO):
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0005390
hpo_term: Recurrent opportunistic infections
chpo_term: 反复机会性感染
id: HP:0200043
hpo_term: Verrucae
chpo_term: 疣
id: HP:0200117
hpo_term: Recurrent upper and lower respiratory tract infections
chpo_term: 上下呼吸道反复感染
id: HP:0000388
hpo_term: Otitis media
chpo_term: 中耳炎
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001045
hpo_term: Vitiligo
chpo_term: 白癜风
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0005681
hpo_term: Juvenile rheumatoid arthritis
chpo_term: 幼年类风湿关节炎
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0011107
hpo_term: Recurrent aphthous stomatitis
chpo_term: 复发性口疮性口炎
id: HP:0011274
hpo_term: Recurrent mycobacterial infections
chpo_term: 反复分枝杆菌感染
id: HP:0031123
hpo_term: Recurrent gastroenteritis
chpo_term: 复发性肠胃炎
id: HP:0045080
hpo_term: Decreased proportion of CD3-positive T cells
chpo_term: CD3+T细胞比例减低
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
Disease (ORPHA:274):
Giant platelet syndrome
Bernard-Soulier syndrome
Hemorrhagiparous thrombocytic dystrophy

Associated phenotypes (HPO):
id: HP:0011871
hpo_term: Impaired ristocetin-induced platelet aggregation
chpo_term: 瑞斯托菌素诱导的血小板聚集受损
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001902
hpo_term: Giant platelets
chpo_term: 巨血小板
id: HP:0011879
hpo_term: Decreased platelet glycoprotein Ib-IX-V
chpo_term: 血小板糖蛋白Ib-IX-V减少
id: HP:0040185
hpo_term: Macrothrombocytopenia
chpo_term: 巨血小板减少症
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0000967
hpo_term: Petechiae
chpo_term: 瘀点
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0004406
hpo_term: Spontaneous, recurrent epistaxis
chpo_term: 复发性自发鼻衄
id: HP:0006298
hpo_term: Prolonged bleeding after dental extraction
chpo_term: 拔牙后出血时间延长
id: HP:0007420
hpo_term: Spontaneous hematomas
chpo_term: 自发性血肿
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血
id: HP:0004846
hpo_term: Prolonged bleeding after surgery
chpo_term: 手术后出血时间延长
id: HP:0012143
hpo_term: Abnormal megakaryocyte morphology
chpo_term: 巨核细胞形态异常
id: HP:0012587
hpo_term: Macroscopic hematuria
chpo_term: 肉眼血尿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0008738
hpo_term: Partially duplicated kidney
chpo_term: 部分性重复肾
Disease (ORPHA:270):
OPMD
Oculopharyngeal muscular dystrophy

Associated phenotypes (HPO):
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003200
hpo_term: Ragged-red muscle fibers
chpo_term: 破碎红纤维
id: HP:0003302
hpo_term: Spondylolisthesis
chpo_term: 脊椎滑脱症
id: HP:0003805
hpo_term: Rimmed vacuoles
chpo_term: 镶边空泡
id: HP:0004303
hpo_term: Abnormal muscle fiber morphology
chpo_term: 肌纤维形态异常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0000183
hpo_term: Difficulty in tongue movements
chpo_term: 舌活动困难
id: HP:0001618
hpo_term: Dysphonia
chpo_term: 发音困难
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0012531
hpo_term: Pain
chpo_term: 疼痛
id: HP:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0032342
hpo_term: Reduced forced expiratory volume in one second
chpo_term: 每秒用力呼气量减少
id: HP:0034045
hpo_term: Angulated muscle fibers
chpo_term: 成角的肌纤维
id: HP:0100304
hpo_term: Muscle fiber intranuclear inclusion bodies
chpo_term: 肌纤维核内包涵体
id: HP:6001011
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
Disease (ORPHA:1522):
Craniometaphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0004493
hpo_term: Craniofacial hyperostosis
chpo_term: 颅面骨骨质增生
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
Disease (ORPHA:1521):
Craniofrontonasal dysplasia-Poland anomaly syndrome
Webster-Deming syndrome

Associated phenotypes (HPO):
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0004112
hpo_term: Midline nasal groove
chpo_term: 鼻中线浅沟
id: HP:0009116
hpo_term: Aplasia/Hypoplasia involving bones of the skull
chpo_term: 颅骨发育不良/发育不全
id: HP:0000136
hpo_term: Bifid uterus
chpo_term: 双角子宫
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000200
hpo_term: Short lingual frenulum
chpo_term: 舌系带过短
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001464
hpo_term: Aplasia/Hypoplasia involving the shoulder musculature
chpo_term: 肩部肌肉发育不良/发育不全
id: HP:0001540
hpo_term: Diastasis recti
chpo_term: 腹直肌分离
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0006008
hpo_term: Unilateral brachydactyly
chpo_term: 单侧短指（趾）
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0009930
hpo_term: Asymmetry of the nares
chpo_term: 鼻孔不对称
id: HP:0011959
hpo_term: Unilateral hypoplasia of pectoralis major muscle
chpo_term: 单侧胸大肌发育不全
id: HP:0012243
hpo_term: Abnormal reproductive system morphology
chpo_term: 生殖系统形态异常
id: HP:0030867
hpo_term: Vertical orbital dystopia
chpo_term: 垂直眼窝易位
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
Disease (ORPHA:2855):
XX gonadal dysgenesis-deafness syndrome
XX gonadal dysgenesis-hearing loss syndrome
Perrault syndrome

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0010464
hpo_term: Streak ovary
chpo_term: 条索状卵巢
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0000869
hpo_term: Secondary amenorrhea
chpo_term: 继发性闭经
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
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:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001519
hpo_term: Disproportionate tall stature
chpo_term: 不成比例的高身材
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
Disease (ORPHA:2856):
PMDS
Persistent Müllerian duct syndrome
Persistent Müllerian derivatives

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
Disease (ORPHA:1520):
CFNS
CFND
Craniofrontonasal dysplasia
Craniofrontonasal syndrome

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
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:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000474
hpo_term: Thickened nuchal skin fold
chpo_term: 颈部皮肤皱襞增厚
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000889
hpo_term: Abnormal clavicle morphology
chpo_term: 锁骨形态异常
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002224
hpo_term: Woolly hair
chpo_term: 羊毛状发
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004122
hpo_term: Midline defect of the nose
chpo_term: 鼻中线缺陷
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0006585
hpo_term: Congenital pseudoarthrosis of the clavicle
chpo_term: 先天性锁骨假关节
id: HP:0006709
hpo_term: Aplasia/Hypoplasia of the nipples
chpo_term: 乳头发育不全/不良
id: HP:0008402
hpo_term: Ridged fingernail
chpo_term: 指甲纵嵴
id: HP:0010059
hpo_term: Broad hallux phalanx
chpo_term: 拇趾骨变宽
id: HP:0010719
hpo_term: Abnormality of hair texture
chpo_term: 发质异常
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
Disease (ORPHA:1529):
Craniofacial-hearing loss-hand syndrome
Sommer-Young-Wee-Frye syndrome
Craniofacial-deafness-hand syndrome
CDHS

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000564
hpo_term: Lacrimal duct atresia
chpo_term: 泪道闭锁
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0003019
hpo_term: Abnormality of the wrist
chpo_term: 手腕异常
id: HP:0003049
hpo_term: Ulnar deviation of the wrist
chpo_term: 手腕向尺侧偏斜
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0009465
hpo_term: Ulnar deviation of finger
chpo_term: 手指尺侧偏斜
id: HP:0009924
hpo_term: Aplasia/Hypoplasia involving the nose
chpo_term: 鼻发育不全／未发育
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:1528):
Craniotelencephalic dysplasia

Associated phenotypes (HPO):
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002139
hpo_term: Arrhinencephaly
chpo_term: 无鼻无脑畸形
id: HP:0007330
hpo_term: Frontal encephalocele
chpo_term: 额叶脑膨出
id: HP:0100842
hpo_term: Septo-optic dysplasia
chpo_term: 透明隔-视神经发育不良
Disease (ORPHA:1527):
Craniosynostosis, Philadelphia type

Associated phenotypes (HPO):
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
Disease (ORPHA:2850):
Perniola-Krajewska-Carnevale syndrome
Alopecia-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000815
hpo_term: Hypergonadotropic hypogonadism
chpo_term: 高促性腺激素性性腺功能减退症
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
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:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005105
hpo_term: Abnormal nasal morphology
chpo_term: 鼻形态异常
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0011842
hpo_term: Abnormal skeletal morphology
chpo_term: 骨骼形态异常
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0200012
hpo_term: Short corpus callosum
chpo_term: 短胼胝体
Disease (ORPHA:269):
FSH dystrophy
Landouzy-Dejerine myopathy
Facioscapulohumeral dystrophy
Landouzy-Dejerine dystrophy
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
FSHD

Associated phenotypes (HPO):
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0012037
hpo_term: Pectoralis amyotrophy
chpo_term: 胸肌萎缩
id: HP:0012532
hpo_term: Chronic pain
chpo_term: 慢性疼痛
id: HP:0030002
hpo_term: Nocturnal lagophthalmos
chpo_term: 睡眠时睑闭合不全
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0030664
hpo_term: Beevor's sign
chpo_term: Beevor's征
id: HP:0100595
hpo_term: Camptocormia
chpo_term: 驼背
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0005115
hpo_term: Supraventricular arrhythmia
chpo_term: 室上性心律失常
id: HP:0007898
hpo_term: Exudative retinopathy
chpo_term: 渗出性视网膜病变
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003325
hpo_term: Limb-girdle muscle weakness
chpo_term: 肢带肌无力
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:0004673
hpo_term: Decreased facial expression
chpo_term: 面部表情减少
id: HP:0006587
hpo_term: Straight clavicles
chpo_term: 锁骨平直
id: HP:0008046
hpo_term: Abnormal retinal vascular morphology
chpo_term: 视网膜脉管形态异常
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0009023
hpo_term: Abdominal wall muscle weakness
chpo_term: 腹壁肌无力
Disease (ORPHA:1525):
Cranio-osteoarthropathy
Reginato-Schiapachasse syndrome
Currarino idiopathic osteoarthropathy
Currarino disease

Associated phenotypes (HPO):
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0000929
hpo_term: Abnormal skull morphology
chpo_term: 颅骨形态异常
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001070
hpo_term: Mottled pigmentation
chpo_term: 斑驳病
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001386
hpo_term: Joint swelling
chpo_term: 关节肿胀
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0002815
hpo_term: Abnormality of the knee
chpo_term: 膝关节异常
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0002992
hpo_term: Abnormality of tibia morphology
chpo_term: 胫骨形态异常
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0004097
hpo_term: Deviation of finger
chpo_term: 手指偏离
id: HP:0100760
hpo_term: Clubbing of toes
chpo_term: 杵状趾
Disease (ORPHA:268):
LGMD2B
LGMD type 2B
Dysferlin-related limb-girdle muscular dystrophy R2
Limb-girdle muscular dystrophy type 2B
LGMD due to dysferlin deficiency
Dysferlin-related LGMD R2
Autosomal recessive limb-girdle muscular dystrophy type 2B
Limb-girdle muscular dystrophy due to dysferlin deficiency

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003115
hpo_term: Abnormal EKG
chpo_term: 异常心电图
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003722
hpo_term: Neck flexor weakness
chpo_term: 颈屈肌无力
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0008997
hpo_term: Proximal muscle weakness in upper limbs
chpo_term: 上肢近端肌无力
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
id: HP:0011712
hpo_term: Right bundle branch block
chpo_term: 右束支传导阻滞
id: HP:0012664
hpo_term: Reduced left ventricular ejection fraction
chpo_term: 左心室射血分数降低
id: HP:0100748
hpo_term: Muscular edema
chpo_term: 肌肉水肿
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0005085
hpo_term: Limited knee flexion/extension
chpo_term: 膝关节屈伸受限
id: HP:0008800
hpo_term: Limited hip movement
chpo_term: 髋部运动受限
id: HP:0008959
hpo_term: Distal upper limb muscle weakness
chpo_term: 上肢远端肌无力
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0045054
hpo_term: Brachial plexus neuropathy
chpo_term: 臂丛神经病变
id: HP:0100515
hpo_term: Pollakisuria
chpo_term: 尿频