TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:300495):
AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
Autism, susceptibility to, X-linked 2

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002332
hpo_term: Lack of peer relationships
chpo_term: 同伴关系缺乏
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003144
hpo_term: Increased serum serotonin
chpo_term: 血清5-羟色胺（血清素）水平升高
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000723
hpo_term: Restrictive behavior
chpo_term: 限制性行为
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0000733
hpo_term: Motor stereotypy
chpo_term: 运动刻板
id: HP:0000758
hpo_term: Abnormal nonverbal communicative behavior
chpo_term: 非言语交际行为异常
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000732
hpo_term: Inflexible adherence to routines or rituals
chpo_term: 恪守程序或习惯
id: HP:0000721
hpo_term: Lack of spontaneous play
chpo_term: 自发性游戏缺乏
Disease (OMIM:600138):
Retinitis pigmentosa 11
RETINITIS PIGMENTOSA 11

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
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:0030629
hpo_term: Perifoveal ring of hyperautofluorescence
chpo_term: 中央凹周边强自动荧光环
id: HP:0040049
hpo_term: Macular edema
chpo_term: 黄斑水肿
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607131):
Al-Gazali-Bakalinova syndrome
AL-GAZALI-BAKALINOVA SYNDROME

Associated phenotypes (HPO):
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0002654
hpo_term: Multiple epiphyseal dysplasia
chpo_term: 多发性骨骺发育不良
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
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:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000207
hpo_term: Triangular mouth
chpo_term: 三角嘴
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:618011):
HYPEREKPLEXIA 4
Hyperekplexia 4

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0005684
hpo_term: Distal arthrogryposis
chpo_term: 远端关节挛缩
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
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:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0012071
hpo_term: Abnormal circulating acetylcarnitine concentration
chpo_term: 乙酰肉碱代谢异常
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:600886):
HYPERFERRITINEMIA WITH OR WITHOUT CATARACT
Hyperferritinemia with or without cataract

Associated phenotypes (HPO):
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0040135
hpo_term: Abnormal transferrin saturation
chpo_term: 运铁蛋白饱和度异常
id: HP:0012464
hpo_term: Decreased transferrin saturation
chpo_term: 转铁蛋白饱和度降低
id: HP:0010923
hpo_term: Anterior subcapsular cataract
chpo_term: 前囊下白内障
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0010693
hpo_term: Pulverulent cataract
chpo_term: 粉状白内障
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0040130
hpo_term: Abnormal serum iron concentration
chpo_term: 血清铁异常
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:605726):
SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 2
Spinal muscular atrophy, distal, autosomal recessive, 2

Associated phenotypes (HPO):
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0003431
hpo_term: Decreased motor nerve conduction velocity
chpo_term: 运动神经传导速度降低
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0003693
hpo_term: Distal amyotrophy
chpo_term: 远端肌肉萎缩
id: HP:0002460
hpo_term: Distal muscle weakness
chpo_term: 远端肌无力
id: HP:0034337
hpo_term: Claw hand deformity
chpo_term: 爪形手畸形
id: HP:0007083
hpo_term: Hyperactive patellar reflex
chpo_term: 膝腱反射亢进
id: HP:0033383
hpo_term: Decreased compound muscle action potential amplitude
chpo_term: 复合肌肉动作电位波幅降低
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007269
hpo_term: Spinal muscular atrophy
chpo_term: 脊肌萎缩
id: HP:0003438
hpo_term: Absent Achilles reflex
chpo_term: 跟腱反射缺如
id: HP:0001765
hpo_term: Hammertoe
chpo_term: 槌状趾
Disease (OMIM:613144):
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 3
Choroidal dystrophy, central areolar 3

Associated phenotypes (HPO):
id: HP:0011510
hpo_term: Drusen
chpo_term: 玻璃膜疣
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
Disease (OMIM:271250):
Spinocerebellar ataxia, autosomal recessive 3
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0005102
hpo_term: Cochlear degeneration
chpo_term: 耳蜗退行性变
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:613150):
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2

Associated phenotypes (HPO):
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0009917
hpo_term: Persistent pupillary membrane
chpo_term: 瞳孔膜存留
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0006829
hpo_term: Severe muscular hypotonia
chpo_term: 严重的肌张力减退
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0007260
hpo_term: Type II lissencephaly
chpo_term: Ⅱ型无脑回畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000659
hpo_term: Peters anomaly
chpo_term: Peters 综合征
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0003306
hpo_term: Spinal rigidity
chpo_term: 脊柱强直
id: HP:0002951
hpo_term: Partial absence of cerebellar vermis
chpo_term: 小脑蚓部部分缺如
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002350
hpo_term: Cerebellar cyst
chpo_term: 小脑囊肿
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0002803
hpo_term: Congenital contracture
chpo_term: 先天性挛缩
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:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
Disease (OMIM:617336):
Nemaline myopathy 11, autosomal recessive
NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0002792
hpo_term: Reduced vital capacity
chpo_term: 肺活量减少
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0003391
hpo_term: Gowers sign
chpo_term: 高尔斯征
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003803
hpo_term: Type 1 muscle fiber predominance
chpo_term: 1型肌纤维优势
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
Disease (OMIM:618005):
Congenital disorder of glycosylation with defective fucosylation 1
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:616028):
Adams-Oliver syndrome 5
ADAMS-OLIVER SYNDROME 5

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001971
hpo_term: Hypersplenism
chpo_term: 脾功能亢进
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0030242
hpo_term: Portal vein thrombosis
chpo_term: 门静脉血栓形成
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0030718
hpo_term: Right atrial enlargement
chpo_term: 右心房扩大
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0025107
hpo_term: Cutis marmorata telangiectatica congenita
chpo_term: 先天性毛细血管扩张性大理石样皮肤
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0001048
hpo_term: Cavernous hemangioma
chpo_term: 海绵状血管瘤
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0001667
hpo_term: Right ventricular hypertrophy
chpo_term: 右心室肥厚
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001655
hpo_term: Patent foramen ovale
chpo_term: 卵圆孔未闭
Disease (OMIM:166780):
OTOFACIOCERVICAL SYNDROME 1
Otofaciocervical syndrome

Associated phenotypes (HPO):
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
id: HP:0000472
hpo_term: Long neck
chpo_term: 长颈
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0008586
hpo_term: Hypoplasia of the cochlea
chpo_term: 耳蜗发育不全
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:131800):
Epidermolysis bullosa simplex, Weber-Cockayne type
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED

Associated phenotypes (HPO):
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007446
hpo_term: Palmoplantar blistering
chpo_term: 掌跖起泡
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0034193
hpo_term: Stratum basale cleavage
chpo_term: 基底层裂隙
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:146450):
HYPOSPADIAS 3, AUTOSOMAL
Hypospadias 3, autosomal

Associated phenotypes (HPO):
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:184705):
STEINFELD SYNDROME
Steinfeld syndrome

Associated phenotypes (HPO):
id: HP:0008718
hpo_term: Unilateral renal dysplasia
chpo_term: 单侧肾发育不良
id: HP:0009829
hpo_term: Phocomelia
chpo_term: 短肢畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0009927
hpo_term: Aplasia of the nose
chpo_term: 鼻发育不全
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0000161
hpo_term: Median cleft lip
chpo_term: 正中唇裂
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0011467
hpo_term: Absent gallbladder
chpo_term: 胆囊缺失
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0009099
hpo_term: Median cleft palate
chpo_term: 正中腭裂
id: HP:0000921
hpo_term: Missing ribs
chpo_term: 肋骨缺失
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0009601
hpo_term: Aplasia/Hypoplasia of the thumb
chpo_term: 拇指发育不全或发育不良
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
Disease (OMIM:617450):
JANSEN-DE VRIES SYNDROME
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold

Associated phenotypes (HPO):
id: HP:0001792
hpo_term: Small nail
chpo_term: 微甲
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001647
hpo_term: Bicuspid aortic valve
chpo_term: 二叶主动脉瓣
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0002697
hpo_term: Parietal foramina
chpo_term: 顶骨孔
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0025195
hpo_term: Central diaphragmatic hernia
chpo_term: 中央膈疝
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0010780
hpo_term: Hyperacusis
chpo_term: 听觉过敏
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
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
Disease (OMIM:618763):
JOUBERT SYNDROME 36
Joubert syndrome 36

Associated phenotypes (HPO):
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
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:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
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:0002419
hpo_term: Molar tooth sign on MRI
chpo_term: 磁共振磨牙征
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0006159
hpo_term: Mesoaxial hand polydactyly
chpo_term: 中轴多指畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:612528):
Diamond-Blackfan anemia 5
DIAMOND-BLACKFAN ANEMIA 5

Associated phenotypes (HPO):
id: HP:0012133
hpo_term: Erythroid hypoplasia
chpo_term: 红系发育不良
id: HP:0001882
hpo_term: Leukopenia
chpo_term: 白细胞减少症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001896
hpo_term: Reticulocytopenia
chpo_term: 网织细胞减少症
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:602722):
Distal renal tubular acidosis 3, with or without sensorineural hearing loss
RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS

Associated phenotypes (HPO):
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002150
hpo_term: Hypercalciuria
chpo_term: 高钙尿症
id: HP:0008341
hpo_term: Distal renal tubular acidosis
chpo_term: 远端肾小管性酸中毒
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001944
hpo_term: Dehydration
chpo_term: 脱水
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病