TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614114):
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
Mosaic variegated aneuploidy syndrome 2

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002101
hpo_term: Abnormal lung lobation
chpo_term: 肺分叶异常
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012745
hpo_term: Short palpebral fissure
chpo_term: 短睑裂
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0032569
hpo_term: Temporal bossing
chpo_term: 颞部肿块
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0008846
hpo_term: Severe intrauterine growth retardation
chpo_term: 严重的胎儿宫内发育迟缓
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0200040
hpo_term: Epidermoid cyst
chpo_term: 表皮样囊肿
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001682
hpo_term: Subvalvular aortic stenosis
chpo_term: 主动脉瓣下狭窄
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0100830
hpo_term: Round ear
chpo_term: 圆耳
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
Disease (OMIM:276200):
T-SUBSTANCE ANOMALY

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:604307):
CATARACT 2, MULTIPLE TYPES
Cataract 2, multiple types

Associated phenotypes (HPO):
id: HP:0010926
hpo_term: Aculeiform cataract
chpo_term: 皮刺状白内障
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0010698
hpo_term: Nuclear pulverulent cataract
chpo_term: 核性粉尘状白内障
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:605019):
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
Hypobetalipoproteinemia, familial, 2

Associated phenotypes (HPO):
id: HP:0003563
hpo_term: Decreased LDL cholesterol concentration
chpo_term: 低β-脂蛋白血症
id: HP:0012153
hpo_term: Hypotriglyceridemia
chpo_term: 低甘油三酯血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:605021):
Myoclonic epilepsy, familial infantile
MYOCLONIC EPILEPSY, FAMILIAL INFANTILE

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
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:0031629
hpo_term: Impaired tandem gait
chpo_term: 踵趾步态
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0010546
hpo_term: Muscle fibrillation
chpo_term: 肌纤维颤动
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:125800):
Diabetes insipidus, nephrogenic, 2
DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL

Associated phenotypes (HPO):
id: HP:0000021
hpo_term: Megacystis
chpo_term: 巨膀胱症
id: HP:0009806
hpo_term: Nephrogenic diabetes insipidus
chpo_term: 肾性尿崩症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0001955
hpo_term: Unexplained fevers
chpo_term: 不明原因的发热
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001986
hpo_term: Hypertonic dehydration
chpo_term: 高渗性脱水
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:613643):
PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
Parkinson disease 5, susceptibility to

Associated phenotypes (HPO):
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002548
hpo_term: Parkinsonism with favorable response to dopaminergic medication
chpo_term: 对多巴胺能药物反应良好的帕金森
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:177820):
PSEUDO-VON WILLEBRAND DISEASE
Pseudo-Von willebrand disease

Associated phenotypes (HPO):
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004854
hpo_term: Intermittent thrombocytopenia
chpo_term: 间歇性血小板减少症
Disease (OMIM:168900):
Patella, chondromalacia of
PATELLA, CHONDROMALACIA OF

Associated phenotypes (HPO):
id: HP:0003045
hpo_term: Abnormal patella morphology
chpo_term: 髌骨形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:606528):
HOMOZYGOUS 11p15-p14 DELETION SYNDROME
Homozygous 11p15-p14 deletion syndrome

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002909
hpo_term: Generalized aminoaciduria
chpo_term: 全谱氨基酸尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0008527
hpo_term: Congenital sensorineural hearing impairment
chpo_term: 先天性感音神经性听力障碍
Disease (OMIM:617343):
HYPERPARATHYROIDISM 4
Hyperparathyroidism 4

Associated phenotypes (HPO):
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0006780
hpo_term: Parathyroid carcinoma
chpo_term: 甲状旁腺癌
id: HP:0008200
hpo_term: Primary hyperparathyroidism
chpo_term: 原发性甲状旁腺功能亢进症
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000787
hpo_term: Nephrolithiasis
chpo_term: 肾结石
Disease (OMIM:615554):
Multiple fibroadenomas of the breast
MULTIPLE FIBROADENOMAS OF THE BREAST

Associated phenotypes (HPO):
id: HP:0010619
hpo_term: Fibroadenoma of the breast
chpo_term: 乳腺纤维腺瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614892):
Immunodeficiency 31A
IMMUNODEFICIENCY 31A

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0020086
hpo_term: BCGitis
chpo_term: 接种卡介苗后局部或周边感染
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011275
hpo_term: Recurrent mycobacterium avium complex infections
chpo_term: 反复鸟分枝杆菌复合菌感染
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0012302
hpo_term: Herpes simplex encephalitis
chpo_term: 单纯疱疹病毒性脑炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:271225):
Spinal muscular atrophy, type I, with congenital bone fractures
MOVED TO 616866

Associated phenotypes (HPO):
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0002398
hpo_term: Degeneration of anterior horn cells
chpo_term: 前角细胞变性
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0007280
hpo_term: Acute infantile spinal muscular atrophy
chpo_term: 急性婴儿型脊髓性肌萎缩
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
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:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000721
hpo_term: Lack of spontaneous play
chpo_term: 自发性游戏缺乏
id: HP:0005855
hpo_term: Multiple prenatal fractures
chpo_term: 多发性产前骨折
id: HP:0003700
hpo_term: Generalized amyotrophy
chpo_term: 泛发性肌萎缩
Disease (OMIM:615540):
Deafness, autosomal recessive 76
DEAFNESS, AUTOSOMAL RECESSIVE 76

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000408
hpo_term: Progressive sensorineural hearing impairment
chpo_term: 渐进性感音神经性听力损失
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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
Disease (OMIM:614886):
PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)
Peroxisome biogenesis disorder 12A (Zellweger)

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0003455
hpo_term: Elevated circulating long chain fatty acid concentration
chpo_term: 长链脂肪酸水平升高
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0030799
hpo_term: Scaphocephaly
chpo_term: 舟状头
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
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:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0007305
hpo_term: CNS demyelination
chpo_term: 中枢神经系统脱髓鞘
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0010759
hpo_term: Prominence of the premaxilla
chpo_term: 前颌骨突出
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0009553
hpo_term: Abnormality of the hairline
chpo_term: 发际线异常
id: HP:0010461
hpo_term: Abnormality of the male genitalia
chpo_term: 男性生殖器异常
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
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:0001558
hpo_term: Decreased fetal movement
chpo_term: 胎动减少
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000267
hpo_term: Cranial asymmetry
chpo_term: 颅骨不对称
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000124
hpo_term: Renal tubular dysfunction
chpo_term: 肾小管功能障碍
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0001612
hpo_term: Weak cry
chpo_term: 哭声微弱
Disease (OMIM:611726):
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions

Associated phenotypes (HPO):
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
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:0032667
hpo_term: Myoclonic status epilepticus
chpo_term: 肌阵挛癫痫持续状态
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003208
hpo_term: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
chpo_term: 自体荧光脂色素存储物质的细胞内堆积指纹谱
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:245180):
KIFAFA SEIZURE DISORDER
Kifafa seizure disorder

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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
id: HP:0006932
hpo_term: Transient psychotic episodes
chpo_term: 短暂性精神病性发作
Disease (OMIM:618702):
SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES
Short stature and microcephaly with genital anomalies

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0005832
hpo_term: Dysharmonic delayed bone age
chpo_term: 发育障碍性骨龄延迟
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0025515
hpo_term: Delayed thelarche
chpo_term: 乳房发育延迟
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:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0001741
hpo_term: Phimosis
chpo_term: 包茎
Disease (OMIM:611040):
MICROPHTHALMIA, ISOLATED 5
Microphthalmia, isolated 5

Associated phenotypes (HPO):
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:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0012426
hpo_term: Optic disc drusen
chpo_term: 视盘玻璃疣
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0030823
hpo_term: Scleral thickening
chpo_term: 巩膜增厚
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0012152
hpo_term: Foveoschisis
chpo_term: 黄斑劈裂
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0008323
hpo_term: Abnormal light- and dark-adapted electroretinogram
chpo_term: 异常的明暗适应视网膜电流图
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
Disease (OMIM:615226):
Polydactyly, postaxial, type A6
POLYDACTYLY, POSTAXIAL, TYPE A6

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0009374
hpo_term: Broad phalanges of the 5th finger
chpo_term: 第五指指骨变宽
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0000971
hpo_term: Abnormal sweat gland morphology
chpo_term: 汗腺异常
Disease (OMIM:261750):
GLYCOGEN STORAGE DISEASE IXb
Glycogen storage disease type IXb

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:6000333
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0009051
hpo_term: Increased muscle glycogen content
chpo_term: 肌糖原含量增加
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0006568
hpo_term: Increased hepatic glycogen content
chpo_term: 肝糖原含量增高
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
Disease (OMIM:613657):
D-2-hydroxyglutaric aciduria 2
D-2-HYDROXYGLUTARIC ACIDURIA 2

Associated phenotypes (HPO):
id: HP:0040146
hpo_term: D-2-hydroxyglutaric acidemia
chpo_term: D-2-羟基戊二酸血症
id: HP:0012321
hpo_term: D-2-hydroxyglutaric aciduria
chpo_term: D-2-羟基戊二酸尿症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:600165):
Nanophthalmos 1
NANOPHTHALMOS 1

Associated phenotypes (HPO):
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:193230):
VITREORETINAL DEGENERATION, SNOWFLAKE TYPE
Snowflake vitreoretinal degeneration

Associated phenotypes (HPO):
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0030663
hpo_term: Optically empty vitreous
chpo_term: 光空型玻璃体
id: HP:0011533
hpo_term: Snowflake vitreoretinal degeneration
chpo_term: 雪花型玻璃体视网膜变性
id: HP:0032027
hpo_term: Retinal dots
chpo_term: 点状视网膜病变
id: HP:0012038
hpo_term: Corneal guttata
chpo_term: 角膜液滴样病变
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616707):
DEAFNESS, AUTOSOMAL DOMINANT 68
Deafness, autosomal dominant 68

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:264600):
PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS
Pseudovaginal perineoscrotal hypospadias

Associated phenotypes (HPO):
id: HP:0000033
hpo_term: Ambiguous genitalia, male
chpo_term: 男性外阴性别不明
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0032382
hpo_term: Uniparental disomy
chpo_term: 单亲二体
id: HP:0000051
hpo_term: Perineal hypospadias
chpo_term: 会阴型尿道下裂
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000048
hpo_term: Bifid scrotum
chpo_term: 阴囊对裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
Disease (OMIM:108010):
ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
Arteriovenous malformation of the brain, somatic

Associated phenotypes (HPO):
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0002408
hpo_term: Cerebral arteriovenous malformation
chpo_term: 脑动静脉畸形