TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614280):
Epilepsy, juvenile myoclonic, susceptibility to, 9
EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 9

Associated phenotypes (HPO):
id: HP:0002373
hpo_term: Febrile seizure (within the age range of 3 months to 6 years)
chpo_term: 高热惊厥(年龄在3个月至6岁之间)
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:604093):
Keratosis pilaris atrophicans
KERATOSIS PILARIS ATROPHICANS

Associated phenotypes (HPO):
id: HP:0009926
hpo_term: Epiphora
chpo_term: 泪液分泌增加
id: HP:0000561
hpo_term: Absent eyelashes
chpo_term: 睫毛缺失
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0031285
hpo_term: Abnormal perifollicular morphology
chpo_term: 毛囊周围形态异常
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025249
hpo_term: Comedo
chpo_term: 粉刺
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:188580):
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
Thyrotoxic periodic paralysis, susceptibility to, 1

Associated phenotypes (HPO):
id: HP:0003201
hpo_term: Rhabdomyolysis
chpo_term: 横纹肌溶解症
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0001649
hpo_term: Tachycardia
chpo_term: 心动过速
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0003768
hpo_term: Periodic paralysis
chpo_term: 周期性麻痹
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:116800):
CATARACT 5, MULTIPLE TYPES
Cataract, lamellar

Associated phenotypes (HPO):
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0001134
hpo_term: Anterior polar cataract
chpo_term: 前极白内障
id: HP:0010693
hpo_term: Pulverulent cataract
chpo_term: 粉状白内障
id: HP:0007971
hpo_term: Lamellar cataract
chpo_term: 板层白内障
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0010920
hpo_term: Zonular cataract
chpo_term: 带状白内障
Disease (OMIM:212360):
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 2
Palmoplantar keratoderma and congenital alopecia 2

Associated phenotypes (HPO):
id: HP:0007418
hpo_term: Alopecia totalis
chpo_term: 全秃
id: HP:0001041
hpo_term: Facial erythema
chpo_term: 面部红斑
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
id: HP:0011838
hpo_term: Sclerodactyly
chpo_term: 指硬皮病
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0009775
hpo_term: Amniotic constriction ring
chpo_term: 羊膜带狭窄环
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:600593):
Craniosynostosis, Adelaide type
CRANIOSYNOSTOSIS, ADELAIDE TYPE

Associated phenotypes (HPO):
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0005776
hpo_term: Carpal bone malsegmentation
chpo_term: 腕骨分节异常
id: HP:0010164
hpo_term: Cone-shaped epiphyses of the toes
chpo_term: 跖骨锥形骨骺
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0006110
hpo_term: Shortening of all middle phalanges of the fingers
chpo_term: 所有中节指骨缩短
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0006118
hpo_term: Shortening of all distal phalanges of the fingers
chpo_term: 手指的所有远端指骨缩短
Disease (OMIM:119500):
POPLITEAL PTERYGIUM SYNDROME
Popliteal pterygium syndrome

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0008726
hpo_term: Hypoplasia of the vagina
chpo_term: 阴道发育不良
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0000196
hpo_term: Lower lip pit
chpo_term: 下唇凹陷
id: HP:0010554
hpo_term: Cutaneous finger syndactyly
chpo_term: 手指皮肤性并指
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0009754
hpo_term: Fibrous syngnathia
chpo_term: 纤维性牙槽嵴融合
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000059
hpo_term: Hypoplastic labia majora
chpo_term: 大阴唇发育不良
id: HP:0009757
hpo_term: Intercrural pterygium
chpo_term: 腹股沟翼状胬肉
id: HP:0009756
hpo_term: Popliteal pterygium
chpo_term: 腘窝翼状胬肉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0009758
hpo_term: Pyramidal skinfold extending from the base to the top of the nails
chpo_term: 甲近端向远端锥形分布的皮褶
Disease (OMIM:617004):
POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
Polycystic liver disease 2

Associated phenotypes (HPO):
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:601666):
Diabetes mellitus, insulin-dependent, 15
TYPE 1 DIABETES MELLITUS 15

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (OMIM:227330):
Faciodigitogenital syndrome, autosomal recessive
FACIODIGITOGENITAL SYNDROME, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001547
hpo_term: Abnormal rib cage morphology
chpo_term: 胸廓形态异常
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000472
hpo_term: Long neck
chpo_term: 长颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0002948
hpo_term: Vertebral fusion
chpo_term: 椎体融合
id: HP:0100515
hpo_term: Pollakisuria
chpo_term: 尿频
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0005639
hpo_term: Hyperextensible hand joints
chpo_term: 手关节背伸过度
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000049
hpo_term: Shawl scrotum
chpo_term: 披肩状阴囊
Disease (OMIM:226990):
IMMUNODEFICIENCY 32B
Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive

Associated phenotypes (HPO):
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0003203
hpo_term: Impaired oxidative burst
chpo_term: 四氮唑蓝（NBT）还原试验阴性
id: HP:0410242
hpo_term: Abnormal circulating IgG level
chpo_term: 血液IgG异常
id: HP:0020086
hpo_term: BCGitis
chpo_term: 接种卡介苗后局部或周边感染
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0012312
hpo_term: Monocytopenia
chpo_term: 单核细胞减少症
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0012138
hpo_term: Granulocytic hyperplasia
chpo_term: 粒细胞增生
id: HP:0011897
hpo_term: Neutrophilia
chpo_term: 中性粒细胞增多症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:300943):
Pituitary adenoma 2, GH-secreting
PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING

Associated phenotypes (HPO):
id: HP:0002893
hpo_term: Pituitary adenoma
chpo_term: 垂体腺瘤
id: HP:0000845
hpo_term: Elevated circulating growth hormone concentration
chpo_term: 生长激素水平升高
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:618451):
NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001935
hpo_term: Microcytic anemia
chpo_term: 小细胞性贫血
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001931
hpo_term: Hypochromic anemia
chpo_term: 低色素性贫血
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:617762):
LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
Leukodystrophy, progressive, early childhood-onset

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0007281
hpo_term: Developmental stagnation
chpo_term: 发育停滞
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000011
hpo_term: Neurogenic bladder
chpo_term: 神经源性膀胱功能障碍
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0034353
hpo_term: Appendicular spasticity
chpo_term: 四肢痉挛
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:263200):
Polycystic kidney disease 4 with or without polycystic liver disease
POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0005576
hpo_term: Tubulointerstitial fibrosis
chpo_term: 肾小管间质纤维化
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0004719
hpo_term: Hyperechogenic kidneys
chpo_term: 肾脏回声增强
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0001405
hpo_term: Periportal fibrosis
chpo_term: 门静脉周围纤维化
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0000113
hpo_term: Polycystic kidney dysplasia
chpo_term: 多囊肾性发育不良
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0008659
hpo_term: Multiple small medullary renal cysts
chpo_term: 多发性肾髓质小囊肿
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0005564
hpo_term: Absence of renal corticomedullary differentiation
chpo_term: 肾皮髓质分界消失
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
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:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0002009
hpo_term: Potter facies
chpo_term: 波特面容
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0002248
hpo_term: Hematemesis
chpo_term: 呕血
Disease (OMIM:616468):
Exudative vitreoretinopathy 6
EXUDATIVE VITREORETINOPATHY 6

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0007917
hpo_term: Tractional retinal detachment
chpo_term: 牵拉性视网膜脱离
id: HP:0001493
hpo_term: Falciform retinal fold
chpo_term: 镰状视网膜皱襞
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0011530
hpo_term: Retinal hole
chpo_term: 视网膜裂孔
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007791
hpo_term: Patchy atrophy of the retinal pigment epithelium
chpo_term: 视网膜色素上皮斑状萎缩
id: HP:0100019
hpo_term: Cortical cataract
chpo_term: 皮质性白内障
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0030490
hpo_term: Exudative vitreoretinopathy
chpo_term: 渗出性玻璃体视网膜病变
id: HP:0001489
hpo_term: Posterior vitreous detachment
chpo_term: 玻璃体后部脱离
id: HP:0001147
hpo_term: Retinal exudate
chpo_term: 视网膜渗出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:611307):
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 12
Muscular dystrophy, limb-girdle, type 2L

Associated phenotypes (HPO):
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0009050
hpo_term: Quadriceps muscle atrophy
chpo_term: 股四头肌肌肉萎缩
id: HP:0009025
hpo_term: Increased connective tissue
chpo_term: 结缔组织增多
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0003749
hpo_term: Pelvic girdle muscle weakness
chpo_term: 骨盆带肌无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003458
hpo_term: EMG: myopathic abnormalities
chpo_term: EMG:肌病样异常
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
Disease (OMIM:300957):
MENTAL RETARDATION, X-LINKED 12
Mental retardation, X-linked 12/35

Associated phenotypes (HPO):
id: HP:0002487
hpo_term: Hyperkinetic movements
chpo_term: 运动过多
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0030260
hpo_term: Microphallus
chpo_term: 阴茎过小
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0031418
hpo_term: Increased body mass index
chpo_term: 体重指数增加
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0001956
hpo_term: Truncal obesity
chpo_term: 躯干性肥胖
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002269
hpo_term: Abnormality of neuronal migration
chpo_term: 神经细胞迁移异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:619983):
Developmental and epileptic encephalopathy 105 with hypopituitarism
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0010845
hpo_term: EEG with generalized slow activity
chpo_term: 脑电图，广泛性慢活动
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0011195
hpo_term: EEG with focal sharp slow waves
chpo_term: 脑电图，局灶性尖慢波
id: HP:0032792
hpo_term: Tonic seizure
chpo_term: 强直发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008245
hpo_term: Pituitary hypothyroidism
chpo_term: 垂体性甲状腺功能减退症
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:610019):
Cataract, autosomal recessive congenital 2
CATARACT 18

Associated phenotypes (HPO):
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传