TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:210600):
SECKEL SYNDROME 1
Seckel syndrome 1

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0007048
hpo_term: Large basal ganglia
chpo_term: 基底节增大
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0006434
hpo_term: Hypoplasia of proximal radius
chpo_term: 近端桡骨发育低下
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000237
hpo_term: Small anterior fontanelle
chpo_term: 小前囟
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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: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:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0006143
hpo_term: Abnormal finger flexion creases
chpo_term: 手指屈曲褶痕异常
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: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:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001592
hpo_term: Selective tooth agenesis
chpo_term: 选择性牙齿发育不全
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0001320
hpo_term: Cerebellar vermis hypoplasia
chpo_term: 小脑蚓部发育不全
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0010583
hpo_term: Ivory epiphyses
chpo_term: 象牙化骨骺
id: HP:0006442
hpo_term: Hypoplasia of proximal fibula
chpo_term: 腓骨近端发育不良
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
Disease (OMIM:614691):
Cataract, autosomal recessive congenital 5
CATARACT 38

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:620534):
Neutropenia, severe congenital, 10, autosomal recessive
NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0033150
hpo_term: Anorectal abscess
chpo_term: 肛门直肠脓肿
id: HP:0012311
hpo_term: Monocytosis
chpo_term: 单核细胞增多症
id: HP:0033607
hpo_term: Bone marrow arrest at the promyelocytic stage
chpo_term: 早幼粒细胞阶段的骨髓停滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
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:0012136
hpo_term: Dysplastic granulopoesis
chpo_term: 粒细胞生成异常
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:618915):
DEAFNESS, AUTOSOMAL DOMINANT 77
Deafness, autosomal dominant 77

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:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0011390
hpo_term: Morphological abnormality of the inner ear
chpo_term: 内耳形态异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616938):
COFFIN-SIRIS SYNDROME 5
Coffin-Siris syndrome 5

Associated phenotypes (HPO):
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:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
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:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
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:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
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:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
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:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:214300):
KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE
Klippel-Feil syndrome, autosomal recessive

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000912
hpo_term: Sprengel anomaly
chpo_term: 先天性肩胛骨向上移位（Sprengel畸形）
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000466
hpo_term: Limited neck range of motion
chpo_term: 颈部运动范围受限
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0004602
hpo_term: Cervical C2/C3 vertebral fusion
chpo_term: 颈C2/C3椎体融合
Disease (OMIM:259200):
Blount disease, adolescent
BLOUNT DISEASE, ADOLESCENT

Associated phenotypes (HPO):
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0010886
hpo_term: Osteochondritis dissecans
chpo_term: 剥脱性骨软骨炎
Disease (OMIM:613854):
Congenital heart defects, multiple types, 6
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6

Associated phenotypes (HPO):
id: HP:0005304
hpo_term: Hypoplastic pulmonary veins
chpo_term: 肺静脉发育不全
id: HP:0001674
hpo_term: Complete atrioventricular canal defect
chpo_term: 完全性房室通道缺损
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0001750
hpo_term: Single ventricle
chpo_term: 单心室
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0005160
hpo_term: Total anomalous pulmonary venous return
chpo_term: 完全性肺静脉回流异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001719
hpo_term: Double outlet right ventricle
chpo_term: 右室双出口
id: HP:0012020
hpo_term: Right aortic arch
chpo_term: 右位主动脉弓
id: HP:0001669
hpo_term: Transposition of the great arteries
chpo_term: 大动脉转位
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
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:0032092
hpo_term: Left ventricular outflow tract obstruction
chpo_term: 左心室流出道梗阻
Disease (OMIM:127000):
Kenny-caffey syndrome, type 2
KENNY-CAFFEY SYNDROME, TYPE 2

Associated phenotypes (HPO):
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
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:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0001085
hpo_term: Papilledema
chpo_term: 视乳头水肿
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0100253
hpo_term: Abnormality of the medullary cavity of the long bones
chpo_term: 长骨髓腔异常
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000935
hpo_term: Thickened cortex of long bones
chpo_term: 长骨骨皮质增厚
id: HP:0008285
hpo_term: Transient hypophosphatemia
chpo_term: 短暂性低磷血症
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0007862
hpo_term: Retinal calcification
chpo_term: 视网膜钙化
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618901):
46,XX SEX REVERSAL 5
46,XX sex reversal 5

Associated phenotypes (HPO):
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0009112
hpo_term: Aplasia of the left hemidiaphragm
chpo_term: 左侧膈肌发育不良
id: HP:0100779
hpo_term: Urogenital sinus anomaly
chpo_term: 泌尿生殖窦异常
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607821):
DEAFNESS, AUTOSOMAL RECESSIVE 37
Deafness, autosomal recessive 37

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001751
hpo_term: Vestibular dysfunction
chpo_term: 前庭功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007642
hpo_term: Congenital stationary night blindness
chpo_term: 先天性静止性夜盲症
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:620246):
Congenital myopathy 18 due to dihydropyridine receptor defect
CONGENITAL MYOPATHY 18

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:0003687
hpo_term: Centrally nucleated skeletal muscle fibers
chpo_term: 中央成核的骨骼肌纤维
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0012548
hpo_term: Fatty replacement of skeletal muscle
chpo_term: 骨骼肌脂肪浸润
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0100297
hpo_term: Increased endomysial connective tissue
chpo_term: 肌内膜结缔组织增加
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
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:310600):
Norrie disease
NORRIE DISEASE

Associated phenotypes (HPO):
id: HP:0000594
hpo_term: Shallow anterior chamber
chpo_term: 浅前房
id: HP:0007759
hpo_term: Opacification of the corneal stroma
chpo_term: 角膜基质的混浊
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
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:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0008052
hpo_term: Retinal fold
chpo_term: 视网膜皱襞
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0006887
hpo_term: Intellectual disability, progressive
chpo_term: 进行性智力障碍
id: HP:0000555
hpo_term: Leukocoria
chpo_term: 白瞳症
Disease (OMIM:137575):
GIGANTIFORM CEMENTOMA, FAMILIAL
Gigantiform cementoma, familial

Associated phenotypes (HPO):
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0001571
hpo_term: Multiple impacted teeth
chpo_term: 多个阻生齿
id: HP:0012328
hpo_term: Cementoma
chpo_term: 牙骨质瘤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:123500):
Crouzon syndrome
CROUZON SYNDROME

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0004443
hpo_term: Lambdoidal craniosynostosis
chpo_term: 人字缝早闭
id: HP:0004442
hpo_term: Sagittal craniosynostosis
chpo_term: 矢状缝早闭
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0004440
hpo_term: Coronal craniosynostosis
chpo_term: 冠状缝早闭
id: HP:0100621
hpo_term: Dysgerminoma
chpo_term: 无性细胞瘤
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0004439
hpo_term: Craniofacial dysostosis
chpo_term: 颅面骨发育不全
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004411
hpo_term: Deviated nasal septum
chpo_term: 鼻中隔偏曲
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0003319
hpo_term: Abnormality of the cervical spine
chpo_term: 颈椎异常
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000586
hpo_term: Shallow orbits
chpo_term: 浅眼眶
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
Disease (OMIM:314300):
TORTICOLLIS, KELOIDS, CRYPTORCHIDISM, AND RENAL DYSPLASIA
Torticollis, keloids, cryptorchidism, and renal dysplasia

Associated phenotypes (HPO):
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000473
hpo_term: Torticollis
chpo_term: 斜颈
id: HP:0012330
hpo_term: Pyelonephritis
chpo_term: 肾盂肾炎
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0008717
hpo_term: Unilateral renal atrophy
chpo_term: 单侧肾萎缩
id: HP:0010562
hpo_term: Keloids
chpo_term: 瘢痕疙瘩
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
Disease (OMIM:151800):
Lipomatosis, multiple symmetric, with or without peripheral neuropathy
LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY

Associated phenotypes (HPO):
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0003323
hpo_term: Progressive muscle weakness
chpo_term: 进行性肌无力
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
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:618097):
MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2
Microcephaly, growth restriction, and increased sister chromatid exchange 2

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0030674
hpo_term: Antenatal onset
chpo_term: 出生前发病
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0010998
hpo_term: Increased susceptibility to spontaneous sister chromatid exchange
chpo_term: 姐妹染色单体自发性交换的易发性增高
id: HP:0009141
hpo_term: Depletion of mitochondrial DNA in muscle tissue
chpo_term: 肌肉组织中线粒体DNA消耗
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:619389):
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29
Spinocerebellar ataxia, autosomal recessive 29

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0007814
hpo_term: Retinal pigment epithelial mottling
chpo_term: 视网膜色素上皮斑驳
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: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: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:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002454
hpo_term: Eye of the tiger anomaly of globus pallidus
chpo_term: 苍白球虎眼征
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0012678
hpo_term: Iron accumulation in substantia nigra
chpo_term: 黑质铁累积
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
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