TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:618512):
O'DONNELL-LURIA-RODAN SYNDROME
O'donnell-Luria-Rodan syndrome

Associated phenotypes (HPO):
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
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:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0012166
hpo_term: Skin-picking
chpo_term: 皮肤剔除
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000629
hpo_term: Periorbital fullness
chpo_term: 眶周丰满
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0100716
hpo_term: Self-injurious behavior
chpo_term: 自伤行为
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614328):
Inflammatory skin and bowel disease, neonatal, 1
INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1

Associated phenotypes (HPO):
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0033117
hpo_term: Duodenitis
chpo_term: 十二指肠炎
id: HP:0033194
hpo_term: Perioral erythema
chpo_term: 口周红斑
id: HP:0033195
hpo_term: Perianal erythema
chpo_term: 肛周红斑
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0001818
hpo_term: Paronychia
chpo_term: 甲沟炎
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0410017
hpo_term: Otitis externa
chpo_term: 外耳炎
Disease (OMIM:112270):
BONE PAIN, PERIODIC
Bone pain, periodic

Associated phenotypes (HPO):
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:175200):
Peutz-Jeghers syndrome
PEUTZ-JEGHERS SYNDROME

Associated phenotypes (HPO):
id: HP:0001034
hpo_term: Hypermelanotic macule
chpo_term: 色素沉着斑
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0002584
hpo_term: Intestinal bleeding
chpo_term: 肠道出血
id: HP:0032454
hpo_term: Labial melanotic macule
chpo_term: 唇部黑痣
id: HP:0010784
hpo_term: Uterine neoplasm
chpo_term: 子宫肿瘤
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000138
hpo_term: Ovarian cyst
chpo_term: 卵巢囊肿
id: HP:0002894
hpo_term: Neoplasm of the pancreas
chpo_term: 胰腺肿瘤
id: HP:0002576
hpo_term: Intussusception
chpo_term: 肠套叠
id: HP:0002672
hpo_term: Gastrointestinal carcinoma
chpo_term: 胃肠道癌
id: HP:0003002
hpo_term: Breast carcinoma
chpo_term: 乳腺癌
id: HP:0002035
hpo_term: Rectal prolapse
chpo_term: 直肠脱垂
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0004394
hpo_term: Multiple gastric polyps
chpo_term: 多发性胃息肉
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0001080
hpo_term: Biliary tract abnormality
chpo_term: 胆道异常
id: HP:0004390
hpo_term: Hamartomatous polyposis
chpo_term: 错构瘤性息肉病
id: HP:0031261
hpo_term: Bladder polyp
chpo_term: 膀胱息肉
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0034352
hpo_term: Bile duct polyp
chpo_term: 胆管息肉
id: HP:0032451
hpo_term: Oral melanotic macule
chpo_term: 口腔黑斑
id: HP:0001217
hpo_term: Clubbing
chpo_term: 杵状指
id: HP:0008204
hpo_term: Precocious puberty with Sertoli cell tumor
chpo_term: 性早熟伴睾丸支持细胞瘤
id: HP:0000069
hpo_term: Abnormality of the ureter
chpo_term: 输尿管异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
Disease (OMIM:620066):
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT
Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002283
hpo_term: Global brain atrophy
chpo_term: 全脑萎缩
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011577
hpo_term: Partial atrioventricular canal defect
chpo_term: 部分房室管缺损
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:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
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
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:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0005165
hpo_term: Shortened PR interval
chpo_term: PR间期缩短
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
Disease (OMIM:300633):
HYPOSPADIAS 1, X-LINKED
Hypospadias 1, X-linked

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000051
hpo_term: Perineal hypospadias
chpo_term: 会阴型尿道下裂
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
Disease (OMIM:300155):
RETINITIS PIGMENTOSA 24
Retinitis pigmentosa 24

Associated phenotypes (HPO):
id: HP:0008020
hpo_term: Cone dystrophy
chpo_term: 视锥细胞营养不良
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:615963):
Vesicoureteral reflux 8
VESICOURETERAL REFLUX 8

Associated phenotypes (HPO):
id: HP:0000010
hpo_term: Recurrent urinary tract infections
chpo_term: 复发性尿路感染
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000081
hpo_term: Duplicated collecting system
chpo_term: 集合管系统重复
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620714):
DEAFNESS, AUTOSOMAL RECESSIVE 122
Deafness, autosomal recessive 122

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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
Disease (OMIM:620072):
Diamond-Blackfan anemia 21
DIAMOND-BLACKFAN ANEMIA 21

Associated phenotypes (HPO):
id: HP:0001177
hpo_term: Preaxial hand polydactyly
chpo_term: 轴前多指
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0007687
hpo_term: Unilateral ptosis
chpo_term: 单侧上睑下垂
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0003764
hpo_term: Nevus
chpo_term: 色素痣
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0040023
hpo_term: Clinodactyly of the thumb
chpo_term: 拇指弯曲
id: HP:0000349
hpo_term: Widow's peak
chpo_term: 美人尖
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002669
hpo_term: Osteosarcoma
chpo_term: 骨肉瘤
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0001659
hpo_term: Aortic regurgitation
chpo_term: 主动脉瓣反流
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:302030):
CALVARIAL HYPEROSTOSIS
Calvarial hyperostosis

Associated phenotypes (HPO):
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0034975
id: HP:0004490
hpo_term: Calvarial hyperostosis
chpo_term: 颅骨骨质增生
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
Disease (OMIM:610199):
Diabetes mellitus, neonatal, with congenital hypothyroidism
DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0025484
hpo_term: Increased circulating thyroglobulin level
chpo_term: 循环甲状腺球蛋白水平增高
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0031507
hpo_term: Decreased circulating T4 concentration
chpo_term: 循环T4水平降低
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
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:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
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:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0000453
hpo_term: Choanal atresia
chpo_term: 鼻后孔闭锁
id: HP:0030423
hpo_term: Splenic cyst
chpo_term: 脾囊肿
id: HP:0025379
hpo_term: Anti-thyroid peroxidase antibody positivity
chpo_term: 抗甲状腺过氧化物酶抗体阳性
id: HP:0002594
hpo_term: Pancreatic hypoplasia
chpo_term: 胰腺发育不良
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0001087
hpo_term: Developmental glaucoma
chpo_term: 发育性青光眼
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0001737
hpo_term: Pancreatic cysts
chpo_term: 胰腺囊肿
id: HP:0002944
hpo_term: Thoracolumbar scoliosis
chpo_term: 胸腰脊柱侧弯
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:619803):
SPERMATOGENIC FAILURE 67
Spermatogenic failure 67

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012205
hpo_term: Globozoospermia
chpo_term: 圆头精子症
Disease (OMIM:243050):
Indolylacroyl glycinuria with mental retardation
INDOLYLACROYL GLYCINURIA WITH MENTAL RETARDATION

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003108
hpo_term: Hyperglycinuria
chpo_term: 高甘氨酸尿症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:612956):
VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2
Ventricular fibrillation, paroxysmal familial, 2

Associated phenotypes (HPO):
id: HP:0001663
hpo_term: Ventricular fibrillation
chpo_term: 心室纤颤
id: HP:0006682
hpo_term: Premature ventricular contraction
chpo_term: 室性期前收缩
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613490):
Alpha-1-Antitrypsin deficiency
ALPHA-1-ANTITRYPSIN DEFICIENCY

Associated phenotypes (HPO):
id: HP:0032967
hpo_term: Panacinar emphysema
chpo_term: 全小叶型肺气肿
id: HP:0030169
hpo_term: Gastric varix
chpo_term: 胃静脉曲张
id: HP:0033709
hpo_term: Increased sputum production
chpo_term: 痰液产生增加
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0032025
hpo_term: Reduced serum alpha-1-antitrypsin
chpo_term: 血清α-1-抗胰蛋白酶降低
id: HP:0030828
hpo_term: Wheezing
chpo_term: 哮鸣音
id: HP:0025708
hpo_term: Early young adult onset
chpo_term: 青年成人早期起病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006510
hpo_term: Chronic pulmonary obstruction
chpo_term: 慢性阻塞性肺疾病
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0004469
hpo_term: Chronic bronchitis
chpo_term: 慢性支气管炎
id: HP:0002105
hpo_term: Hemoptysis
chpo_term: 咯血
id: HP:0001402
hpo_term: Hepatocellular carcinoma
chpo_term: 肝细胞癌
Disease (OMIM:614499):
Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34, WITH VARIANT LISSENCEPHALY

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001355
hpo_term: Megalencephaly
chpo_term: 巨脑
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0040194
hpo_term: Increased head circumference
chpo_term: 头围增加
id: HP:0001339
hpo_term: Lissencephaly
chpo_term: 无脑回畸形
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:258470):
Ophthalmoplegic neuromuscular disorder with abnormal mitochondria
OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA

Associated phenotypes (HPO):
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0001427
hpo_term: Mitochondrial inheritance
chpo_term: 线粒体遗传
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001291
hpo_term: Abnormal cranial nerve morphology
chpo_term: 颅神经形态异常
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0008316
hpo_term: Abnormal mitochondria in muscle tissue
chpo_term: 肌肉组织中线粒体异常
Disease (OMIM:605594):
DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1

Associated phenotypes (HPO):
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0005101
hpo_term: High-frequency hearing impairment
chpo_term: 高频听力障碍
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0000703
hpo_term: Dentinogenesis imperfecta
chpo_term: 牙本质发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:230900):
GAUCHER DISEASE, TYPE II
Gaucher disease, type II

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0002100
hpo_term: Recurrent aspiration pneumonia
chpo_term: 反复吸入性肺炎
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0010307
hpo_term: Stridor
chpo_term: 喘鸣
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
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:0011950
hpo_term: Bronchiolitis
chpo_term: 细支气管炎
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:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0000211
hpo_term: Trismus
chpo_term: 张口受限
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:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0011590
hpo_term: Double aortic arch
chpo_term: 双主动脉弓
id: HP:0000602
hpo_term: Ophthalmoplegia
chpo_term: 眼肌麻痹
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0002104
hpo_term: Apnea
chpo_term: 呼吸暂停
Disease (OMIM:617190):
SHASHI-PENA SYNDROME
Shashi-Pena syndrome

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0025104
hpo_term: Capillary malformation
chpo_term: 毛细血管畸形
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0006191
hpo_term: Deep palmar crease
chpo_term: 掌褶纹深
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
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:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0002057
hpo_term: Prominent glabella
chpo_term: 眉间突出
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010952
hpo_term: Mild fetal ventriculomegaly
chpo_term: 轻度胎儿脑室扩大
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0012520
hpo_term: Dilation of Virchow-Robin spaces
chpo_term: 血管周围间隙扩大
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002509
hpo_term: Limb hypertonia
chpo_term: 肢体张力亢进
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0007413
hpo_term: Nevus flammeus of the forehead
chpo_term: 前额鲜红斑痣
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0004602
hpo_term: Cervical C2/C3 vertebral fusion
chpo_term: 颈C2/C3椎体融合