TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:619176):
Oocyte maturation defect 10
OOCYTE MATURATION DEFECT 10

Associated phenotypes (HPO):
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0033712
hpo_term: Repeated implantation failure
chpo_term: 反复种植失败
id: HP:4000008
hpo_term: Formation of multiple pronuclei during fertilization
chpo_term: 受精过程中多原核的形成
Disease (OMIM:606056):
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb
Congenital disorder of glycosylation, type IIB

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:6000576
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0007108
hpo_term: Demyelinating peripheral neuropathy
chpo_term: 脱髓鞘性周围神经病
id: HP:0001188
hpo_term: Hand clenching
chpo_term: 攥拳手
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0012815
hpo_term: Hypoplastic female external genitalia
chpo_term: 女性外生殖器发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010851
hpo_term: EEG with burst suppression
chpo_term: EEG伴爆发抑制
id: HP:0010557
hpo_term: Overlapping fingers
chpo_term: 指交叠
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:615994):
BARDET-BIEDL SYNDROME 17
Bardet-Biedl syndrome 17

Associated phenotypes (HPO):
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000458
hpo_term: Anosmia
chpo_term: 嗅觉丧失
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0006159
hpo_term: Mesoaxial hand polydactyly
chpo_term: 中轴多指畸形
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0100260
hpo_term: Mesoaxial polydactyly
chpo_term: 中轴多指（趾）
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0004409
hpo_term: Hyposmia
chpo_term: 嗅觉减退
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000548
hpo_term: Cone/cone-rod dystrophy
chpo_term: 锥杆细胞营养不良
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0004689
hpo_term: Short fourth metatarsal
chpo_term: 第四跖骨短
Disease (OMIM:224000):
DYSAUTONOMIA-LIKE DISORDER
Dysautonomia-Like disorder

Associated phenotypes (HPO):
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:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:193000):
VESICOURETERAL REFLUX 1
Vesicoureteral reflux 1

Associated phenotypes (HPO):
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620085):
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2
HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0010913
hpo_term: Hyperisoleucinemia
chpo_term: 高异亮氨酸血症
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010911
hpo_term: Hyperleucinemia
chpo_term: 高亮氨酸血症
id: HP:0010910
hpo_term: Hypervalinemia
chpo_term: 高缬氨酸血症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003138
hpo_term: Increased blood urea nitrogen
chpo_term: 血液尿素氮升高
Disease (OMIM:617629):
Schizophrenia 19
SCHIZOPHRENIA 19

Associated phenotypes (HPO):
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:608709):
Lipodystrophy, partial, acquired, susceptibility to
LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000793
hpo_term: Membranoproliferative glomerulonephritis
chpo_term: 膜增生性肾小球肾炎
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0005421
hpo_term: Decreased serum complement C3
chpo_term: 血清补体C3减少
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0009056
hpo_term: Loss of subcutaneous adipose tissue from upper limbs
chpo_term: 上肢皮下脂肪组织丢失
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0009002
hpo_term: Loss of truncal subcutaneous adipose tissue
chpo_term: 躯干部皮下脂肪组织丢失
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
id: HP:0009019
hpo_term: Progressive loss of facial adipose tissue
chpo_term: 进行性面部脂肪组织丢失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
Disease (OMIM:117300):
Dementia, familial danish
CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2

Associated phenotypes (HPO):
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0011970
hpo_term: Cerebral amyloid angiopathy
chpo_term: 脑淀粉样血管病
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002185
hpo_term: Neurofibrillary tangles
chpo_term: 神经原纤维缠结
id: HP:0001115
hpo_term: Posterior polar cataract
chpo_term: 后极性白内障
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612989):
OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY
Optic atrophy 7 with or without auditory neuropathy

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
Disease (OMIM:615980):
Lipodystrophy, familial partial, type 6
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
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:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0012743
hpo_term: Abdominal obesity
chpo_term: 腹型肥胖
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003119
hpo_term: Abnormal circulating lipid concentration
chpo_term: 脂代谢异常
Disease (OMIM:613329):
PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY
Plasminogen activator inhibitor-1 deficiency

Associated phenotypes (HPO):
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:113600):
BRANCHIAL CLEFT ANOMALIES
Branchial cleft anomaliesbranchial cysts, included

Associated phenotypes (HPO):
id: HP:0000464
hpo_term: Abnormality of the neck
chpo_term: 颈部异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615758):
Immunodeficiency 22
IMMUNODEFICIENCY 22

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0025188
hpo_term: Retinal vasculitis
chpo_term: 视网膜血管炎
id: HP:0005479
hpo_term: Decreased circulating IgE
chpo_term: 循环IgE水平降低
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0004385
hpo_term: Protracted diarrhea
chpo_term: 迁延性腹泻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001701
hpo_term: Pericarditis
chpo_term: 心包炎
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0012490
hpo_term: Panniculitis
chpo_term: 脂膜炎
id: HP:0025615
hpo_term: Abscess
chpo_term: 脓肿
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0030005
hpo_term: Capillary leak
chpo_term: 毛细血管渗漏
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0009098
hpo_term: Chronic oral candidiasis
chpo_term: 慢性口腔念珠菌病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:147251):
INCISORS, FUSED MANDIBULAR
Incisors, fused mandibular

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:166710):
OSTEOPOROSIS

Associated phenotypes (HPO):
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:180295):
RHABDOMYOSARCOMA, EMBRYONAL, 2
Rhabdomyosarcoma, embryonal, 2

Associated phenotypes (HPO):
id: HP:0030983
hpo_term: Ovarian thecoma
chpo_term: 卵泡膜细胞瘤
id: HP:0100528
hpo_term: Pleuropulmonary blastoma
chpo_term: 胸膜肺母细胞瘤
id: HP:0025388
hpo_term: Thyroid nodule
chpo_term: 甲状腺结节
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0006743
hpo_term: Embryonal rhabdomyosarcoma
chpo_term: 胚胎横纹肌肉瘤
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0005987
hpo_term: Multinodular goiter
chpo_term: 多结节性甲状腺肿
Disease (OMIM:614877):
PEROXISOME BIOGENESIS DISORDER 8B
Peroxisome biogenesis disorder 8B

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0010571
hpo_term: Elevated levels of phytanic acid
chpo_term: 植烷酸水平升高
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0200085
hpo_term: Limb tremor
chpo_term: 肢体震颤
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012534
hpo_term: Dysesthesia
chpo_term: 感觉障碍
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0008167
hpo_term: Very long chain fatty acid accumulation
chpo_term: 极长链脂肪酸堆积
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
Disease (OMIM:162210):
NEUROFIBROMATOSIS, FAMILIAL SPINAL
Neurofibromatosis, familial spinal

Associated phenotypes (HPO):
id: HP:0001067
hpo_term: Neurofibromas
chpo_term: 神经纤维瘤
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001480
hpo_term: Freckling
chpo_term: 雀斑
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0006851
hpo_term: Symmetric spinal nerve root neurofibromas
chpo_term: 对称的脊神经根神经纤维瘤
id: HP:0009732
hpo_term: Plexiform neurofibroma
chpo_term: 丛状神经纤维瘤
id: HP:0009735
hpo_term: Spinal neurofibromas
chpo_term: 脊髓神经纤维瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0009737
hpo_term: Lisch nodules
chpo_term: Lisch结节
Disease (OMIM:600802):
Scid, autosomal recessive, T-Negative/b-Positive type
SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE

Associated phenotypes (HPO):
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0005372
hpo_term: Abnormality of B cell physiology
chpo_term: B细胞生理异常
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0033581
hpo_term: Absent peripheral lymph nodes in presence of infection
chpo_term: 感染时周围淋巴结缺失
id: HP:0031382
hpo_term: Decreased lymphocyte proliferation in response to anti-CD3
chpo_term: 淋巴细胞抗CD3应答性增殖减弱
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0002788
hpo_term: Recurrent upper respiratory tract infections
chpo_term: 复发性上呼吸道感染
id: HP:0002965
hpo_term: Cutaneous anergy
chpo_term: 皮肤失能
id: HP:0040219
hpo_term: Absent natural killer cells
chpo_term: 自然杀伤细胞缺如
id: HP:0003347
hpo_term: Impaired lymphocyte transformation with phytohemagglutinin
chpo_term: 植物血凝素淋巴细胞转化受损
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0003139
hpo_term: Panhypogammaglobulinemia
chpo_term: 全丙种球蛋白减少血症
Disease (OMIM:301041):
Wieacker-Wolff syndrome, female-restricted
WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED

Associated phenotypes (HPO):
id: HP:0001771
hpo_term: Achilles tendon contracture
chpo_term: 跟腱挛缩
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0010806
hpo_term: U-Shaped upper lip vermilion
chpo_term: U型上红唇
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
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:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0006467
hpo_term: Limited shoulder movement
chpo_term: 肩部活动受限
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0009486
hpo_term: Radial deviation of the hand
chpo_term: 手桡侧偏斜
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001989
hpo_term: Fetal akinesia sequence
chpo_term: 胎儿运动不能序列征
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高