TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:2571):
Woods-Black-Norbury syndrome
X-linked immunoneurologic disorder

Associated phenotypes (HPO):
id: HP:0000009
hpo_term: Functional abnormality of the bladder
chpo_term: 膀胱功能异常
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0008348
hpo_term: Decreased circulating IgG2 level
chpo_term: 循环IgG2水平降低
id: HP:0012638
hpo_term: Abnormal nervous system physiology
chpo_term: 神经系统生理功能异常
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
Disease (ORPHA:2572):
Spastic ataxia-ocular anomalies syndrome
Spastic ataxia-corneal dystrophy syndrome
Mousa-Al Din-Al Nassar syndrome
Bedouin spastic ataxia syndrome

Associated phenotypes (HPO):
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
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:0001131
hpo_term: Corneal dystrophy
chpo_term: 角膜营养不良
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002497
hpo_term: Spastic ataxia
chpo_term: 痉挛性共济失调
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
Disease (ORPHA:2573):
Idiopathic Moyamoya disease
Moyamoya disease

Associated phenotypes (HPO):
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
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:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0100659
hpo_term: Abnormal cerebral vascular morphology
chpo_term: 脑血管形态异常
Disease (ORPHA:2574):
Alopecia-epilepsy-intellectual disability syndrome, Moynahan type
Moynahan syndrome

Associated phenotypes (HPO):
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
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:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
Disease (ORPHA:36412):
Anti-C1q vasculitis
Mac Duffie syndrome
Hypocomplementemic urticarial vasculitis
Mac Duffie hypocomplementemic urticarial vasculitis
McDuffie syndrome
McDuffie hypocomplementemic urticarial vasculitis

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000554
hpo_term: Uveitis
chpo_term: 葡萄膜炎
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
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:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001654
hpo_term: Abnormal heart valve morphology
chpo_term: 心脏瓣膜形态异常
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0004431
hpo_term: Complement deficiency
chpo_term: 补体缺陷
id: HP:0006536
hpo_term: Airway obstruction
chpo_term: 气道阻塞
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0011944
hpo_term: Small vessel vasculitis
chpo_term: 小血管炎
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100326
hpo_term: Immunologic hypersensitivity
chpo_term: 免疫过敏
id: HP:0100533
hpo_term: Inflammatory abnormality of the eye
chpo_term: 眼睛的炎性异常
id: HP:0100534
hpo_term: Episcleritis
chpo_term: 巩膜外层炎
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:2575):
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
Lubani-Al Saleh-Teebi 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:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
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:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000807
hpo_term: Glandular hypospadias
chpo_term: 阴茎头型尿道下裂
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001877
hpo_term: Abnormal erythrocyte morphology
chpo_term: 红细胞形态异常
id: HP:0001889
hpo_term: Megaloblastic anemia
chpo_term: 巨幼细胞性贫血
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0004826
hpo_term: Folate-unresponsive megaloblastic anemia
chpo_term: 叶酸无反应型巨幼细胞性贫血
id: HP:0005263
hpo_term: Gastritis
chpo_term: 胃炎
Disease (ORPHA:2576):
MUL
Mulibrey growth disorder
Mulibrey nanism
Muscle-liver-brain-eye nanism

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002680
hpo_term: J-shaped sella turcica
chpo_term: J形蝶鞍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
Disease (ORPHA:95613):
Pituitary apoplexy
Pituitary tumor apoplexy

Associated phenotypes (HPO):
id: HP:0030521
hpo_term: Bitemporal hemianopia
chpo_term: 双颞侧偏盲
id: HP:0030907
hpo_term: Thunderclap headache
chpo_term: 霹雳性头痛
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0000802
hpo_term: Impotence
chpo_term: 阳痿
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:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0006824
hpo_term: Cranial nerve paralysis
chpo_term: 颅神经麻痹
id: HP:0008202
hpo_term: Reduced circulating prolactin concentration
chpo_term: 泌乳素水平下降
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0011748
hpo_term: Adrenocorticotropic hormone deficiency
chpo_term: 促肾上腺皮质激素不足
id: HP:0030591
hpo_term: Abnormal kinetic perimetry test
chpo_term: 动态视野检查异常
id: HP:0030595
hpo_term: Abnormal static automated perimetry test
chpo_term: 自动静态视野检查异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0000870
hpo_term: Increased circulating prolactin concentration
chpo_term: 泌乳素水平升高
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002921
hpo_term: Abnormality of the cerebrospinal fluid
chpo_term: 脑脊液异常
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0040075
hpo_term: Hypopituitarism
chpo_term: 垂体功能减退
id: HP:0100829
hpo_term: Galactorrhea
chpo_term: 溢乳
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0000863
hpo_term: Central diabetes insipidus
chpo_term: 中枢性尿崩症
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0001289
hpo_term: Confusion
chpo_term: 意识模糊
id: HP:0001895
hpo_term: Normochromic anemia
chpo_term: 正色素性贫血
id: HP:0002339
hpo_term: Abnormal caudate nucleus morphology
chpo_term: 尾状核形态异常
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0100661
hpo_term: Trigeminal neuralgia
chpo_term: 三叉神经痛
Disease (ORPHA:1248):
Binder syndrome
Maxillonasal dysostosis
Maxillonasal dysplasia

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0001065
hpo_term: Striae distensae
chpo_term: 萎缩纹
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0004609
hpo_term: Patchy distortion of vertebrae
chpo_term: 脊椎斑驳状变形
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005288
hpo_term: Abnormality of the nares
chpo_term: 鼻孔异常
id: HP:0008428
hpo_term: Vertebral clefting
chpo_term: 椎体裂
id: HP:0009804
hpo_term: Tooth agenesis
chpo_term: 牙齿发育不全
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010185
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the toes
chpo_term: 末节趾骨发育不良/发育不全
id: HP:0010807
hpo_term: Open bite
chpo_term: 开牙合
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0011892
hpo_term: Low levels of vitamin K
chpo_term: 维生素K缺乏症
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
Disease (ORPHA:2578):
Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
Atypical MRKH syndrome
MRKH syndrome type 2
MURCS association
Mayer-Rokitansky-Küster-Hauser syndrome type 2

Associated phenotypes (HPO):
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000772
hpo_term: Abnormal rib morphology
chpo_term: 肋骨形态异常
id: HP:0000813
hpo_term: Bicornuate uterus
chpo_term: 双角子宫
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008684
hpo_term: Aplasia/hypoplasia of the uterus
chpo_term: 子宫发育不全/发育不良
Disease (ORPHA:83629):
H-SMD
Hypomyelination-spondyloepimetaphyseal dysplasia syndrome
Leukoencephalopathy-SEMD syndrome
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Leukoencephalopathy-metaphyseal chondrodysplasia syndrome

Associated phenotypes (HPO):
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0005871
hpo_term: Metaphyseal chondrodysplasia
chpo_term: 干骺端软骨发育不良
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000587
hpo_term: Abnormality of the optic nerve
chpo_term: 视神经异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002062
hpo_term: Morphological abnormality of the pyramidal tract
chpo_term: 锥体束的形态异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003020
hpo_term: Enlargement of the wrists
chpo_term: 手腕膨大
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0012747
hpo_term: Abnormal brainstem MRI signal intensity
chpo_term: 脑干核磁共振信号强度异常
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0030866
hpo_term: Large knee
chpo_term: 膝关节偏大
id: HP:0100707
hpo_term: Abnormal astrocyte morphology
chpo_term: 星形胶质细胞形态异常
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
Disease (ORPHA:83628):
Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome
PELVIS syndrome
Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome
SACRAL syndrome
LUMBAR syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000075
hpo_term: Renal duplication
chpo_term: 肾重复
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0000136
hpo_term: Bifid uterus
chpo_term: 双角子宫
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002414
hpo_term: Spina bifida
chpo_term: 脊柱裂
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0002836
hpo_term: Bladder exstrophy
chpo_term: 膀胱外翻
id: HP:0004397
hpo_term: Ectopic anus
chpo_term: 肛门异位
id: HP:0010609
hpo_term: Skin tags
chpo_term: 皮赘
Disease (ORPHA:401901):
Huntington disease phenocopy due to C9ORF72 expansions
C9ORF72-related Huntington disease-like syndrome
Huntington disease-like syndrome due to C9ORF72 expansions
C9ORF72-related Huntington disease phenocopy

Associated phenotypes (HPO):
id: HP:0000719
hpo_term: Inappropriate behavior
chpo_term: 不适宜行为
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (ORPHA:83620):
Enteric anendocrinosis
Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Associated phenotypes (HPO):
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0004918
hpo_term: Hyperchloremic metabolic acidosis
chpo_term: 高氯性代谢性酸中毒
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0002611
hpo_term: Cholestatic liver disease
chpo_term: 胆汁淤积性肝病
id: HP:0025354
hpo_term: Abnormal cellular phenotype
chpo_term: 细胞表型异常
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:1236):
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Associated phenotypes (HPO):
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
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:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
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:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000384
hpo_term: Preauricular skin tag
chpo_term: 耳前皮赘
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000765
hpo_term: Abnormal thorax morphology
chpo_term: 胸廓形态异常
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002006
hpo_term: Facial cleft
chpo_term: 面裂
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002558
hpo_term: Supernumerary nipple
chpo_term: 多乳头
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP: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:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0010751
hpo_term: Dimple chin
chpo_term: 下巴浅凹
id: HP:0011304
hpo_term: Broad thumb
chpo_term: 拇指变宽
id: HP:0100022
hpo_term: Abnormality of movement
chpo_term: 运动异常
id: HP:0100267
hpo_term: Lip pit
chpo_term: 唇点凹
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0100720
hpo_term: Hypoplasia of the ear cartilage
chpo_term: 耳软骨发育不全
Disease (ORPHA:139402):
DRESS syndrome
Drug reaction with eosinophilia and systemic symptoms
Drug rash with eosinophilia and systemic symptoms

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001695
hpo_term: Cardiac arrest
chpo_term: 心脏骤停
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0006515
hpo_term: Interstitial pneumonitis
chpo_term: 间质性肺炎
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0012733
hpo_term: Macule
chpo_term: 斑疹
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0012819
hpo_term: Myocarditis
chpo_term: 心肌炎
id: HP:0030249
hpo_term: Enanthema
chpo_term: 粘膜疹
id: HP:0100326
hpo_term: Immunologic hypersensitivity
chpo_term: 免疫过敏
id: HP:0100646
hpo_term: Thyroiditis
chpo_term: 甲状腺炎
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0100827
hpo_term: Lymphocytosis
chpo_term: 淋巴细胞增多症
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
Disease (ORPHA:1234):
Autosomal recessive popliteal pterygium syndrome
Lethal popliteal pterygium syndrome
Bartsocas-Papas syndrome

Associated phenotypes (HPO):
id: HP:0000050
hpo_term: Hypoplastic male external genitalia
chpo_term: 男性外生殖器发育不良
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0009756
hpo_term: Popliteal pterygium
chpo_term: 腘窝翼状胬肉
id: HP:0010185
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the toes
chpo_term: 末节趾骨发育不良/发育不全
id: HP:0100240
hpo_term: Synostosis of joints
chpo_term: 关节骨性联接
id: HP:0100840
hpo_term: Aplasia/Hypoplasia of the eyebrow
chpo_term: 眉毛发育不全
id: HP:0200102
hpo_term: Sparse or absent eyelashes
chpo_term: 睫毛稀疏/无睫毛
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000625
hpo_term: Eyelid coloboma
chpo_term: 眼睑缺损
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0009777
hpo_term: Absent thumb
chpo_term: 拇指缺如
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:139406):
Encephalopathy due to prosaposin deficiency
Combined prosaposin deficiency

Associated phenotypes (HPO):
id: HP:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大