TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:614748):
INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0005972
hpo_term: Respiratory acidosis
chpo_term: 呼吸性酸中毒
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
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:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006530
hpo_term: Abnormal pulmonary interstitial morphology
chpo_term: 肺间质形态异常
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000771
hpo_term: Gynecomastia
chpo_term: 男子女性乳房发育
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0000097
hpo_term: Focal segmental glomerulosclerosis
chpo_term: 局灶节段性肾小球硬化
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000092
hpo_term: Renal tubular atrophy
chpo_term: 肾小管萎缩
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0002643
hpo_term: Neonatal respiratory distress
chpo_term: 新生儿呼吸窘迫
Disease (OMIM:614990):
USHER SYNDROME, TYPE IK
Usher syndrome, type IK

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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:611630):
EPILEPSY, FAMILIAL TEMPORAL LOBE, 3
Epilepsy, familial temporal lobe, 3

Associated phenotypes (HPO):
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0012005
hpo_term: Deja vu aura
chpo_term: 似曾相识的感觉
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617241):
LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
Lung disease, immunodeficiency, and chromosome breakage syndrome

Associated phenotypes (HPO):
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0002972
hpo_term: Reduced delayed hypersensitivity
chpo_term: 迟发型超敏反应降低
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0011946
hpo_term: Bronchiolitis obliterans
chpo_term: 闭塞性细支气管炎
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0031402
hpo_term: Reduced antigen-specific T cell proliferation
chpo_term: 抗原特异性T细胞增殖减弱
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0011133
hpo_term: Increased sensitivity to ionizing radiation
chpo_term: 电离辐射敏感性增强
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000778
hpo_term: Hypoplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0005415
hpo_term: Decreased proportion of CD8-positive T cells
chpo_term: CD8 + T细胞数目减低
Disease (OMIM:233100):
RENAL GLUCOSURIA
Renal glucosuria

Associated phenotypes (HPO):
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0003828
hpo_term: Variable expressivity
chpo_term: 表现度差异
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0010677
hpo_term: Enuresis nocturna
chpo_term: 遗尿症
Disease (OMIM:608361):
Spondyloepiphyseal dysplasia, Kimberley type
SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE

Associated phenotypes (HPO):
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0003370
hpo_term: Flat capital femoral epiphysis
chpo_term: 股骨近端骨骺扁平
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
Disease (OMIM:619278):
MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2
Microcephaly, epilepsy, and diabetes syndrome 2

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040217
hpo_term: Elevated hemoglobin A1c
chpo_term: 糖化血红蛋白水平增高
Disease (OMIM:146255):
HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
Hypoparathyroidism, sensorineural deafness, and renal dysplasia

Associated phenotypes (HPO):
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0008718
hpo_term: Unilateral renal dysplasia
chpo_term: 单侧肾发育不良
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0003762
hpo_term: Uterus didelphys
chpo_term: 双子宫
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001153
hpo_term: Septate vagina
chpo_term: 阴道纵膈
id: HP:0000151
hpo_term: Aplasia of the uterus
chpo_term: 子宫发育不全
id: HP:0003250
hpo_term: Aplasia of the vagina
chpo_term: 阴道发育不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001281
hpo_term: Tetany
chpo_term: 手足抽搐
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0008341
hpo_term: Distal renal tubular acidosis
chpo_term: 远端肾小管性酸中毒
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000538
hpo_term: Pseudopapilledema
chpo_term: 假性视乳头水肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0002049
hpo_term: Proximal renal tubular acidosis
chpo_term: 近端肾小管酸中毒
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0004722
hpo_term: Thickened glomerular basement membrane
chpo_term: 肾小球基底膜增厚
Disease (OMIM:100200):
Abducens palsy
ABDUCENS PALSY

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0006897
hpo_term: Abducens palsy
chpo_term: 外展神经麻痹
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617255):
LISSENCEPHALY 8
Lissencephaly 8

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: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:0002085
hpo_term: Occipital encephalocele
chpo_term: 枕部脑膨出
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0006808
hpo_term: Cerebral hypomyelination
chpo_term: 脑髓鞘形成减少
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
id: HP:0031882
hpo_term: Agyria
chpo_term: 无脑回畸型
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:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0006951
hpo_term: Retrocerebellar cyst
chpo_term: Retrocerebellar囊肿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
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:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
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:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0034353
hpo_term: Appendicular spasticity
chpo_term: 四肢痉挛
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
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:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回
Disease (OMIM:184100):
Spondyloepiphyseal dysplasia tarda, autosomal dominant
SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
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:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0030838
hpo_term: Hip pain
chpo_term: 髋痛
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0003308
hpo_term: Cervical subluxation
chpo_term: 颈椎半脱位
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008922
hpo_term: Childhood-onset short-trunk short stature
chpo_term: 儿童期发病的短躯干矮小
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
id: HP:0002655
hpo_term: Spondyloepiphyseal dysplasia
chpo_term: 脊椎骨骺发育不良
Disease (OMIM:153880):
Macular edema, cystoid
MACULAR DYSTROPHY, DOMINANT CYSTOID

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0007947
hpo_term: Pericentral retinitis pigmentosa
chpo_term: 中心周围视网膜色素变性
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0011505
hpo_term: Cystoid macular edema
chpo_term: 囊样黄斑水肿
id: HP:0007754
hpo_term: Macular dystrophy
chpo_term: 黄斑营养不良
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:603546):
Spondyloepimetaphyseal dysplasia with joint laxity, type 2
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2

Associated phenotypes (HPO):
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0001374
hpo_term: Congenital hip dislocation
chpo_term: 先天性髋关节脱位
id: HP:0001498
hpo_term: Carpal bone hypoplasia
chpo_term: 腕骨骨发育不全
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:0003370
hpo_term: Flat capital femoral epiphysis
chpo_term: 股骨近端骨骺扁平
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0010301
hpo_term: Spinal dysraphism
chpo_term: 椎管闭合不全
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0100531
hpo_term: Wind-swept deformity of the knees
chpo_term: 双膝同向侧弯
id: HP:0005092
hpo_term: Streaky metaphyseal sclerosis
chpo_term: 干骺端条纹样硬化
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0012297
hpo_term: Slender proximal phalanx of finger
chpo_term: 近节指骨细长
id: HP:0012299
hpo_term: Long distal phalanx of finger
chpo_term: 末节指骨长
id: HP:0012296
hpo_term: Slender distal phalanx of finger
chpo_term: 末节指骨细长
id: HP:0008457
hpo_term: Caudal interpedicular narrowing
chpo_term: 尾骨椎弓根狭窄
id: HP:0006454
hpo_term: Delayed patellar ossification
chpo_term: 髌骨骨化延迟
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0006016
hpo_term: Delayed phalangeal epiphyseal ossification
chpo_term: 指骨骨骺骨化延迟
id: HP:0008755
hpo_term: Laryngotracheomalacia
chpo_term: 喉气管软化
id: HP:0005008
hpo_term: Large joint dislocations
chpo_term: 大关节脱位
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0003048
hpo_term: Radial head subluxation
chpo_term: 桡骨头半脱位
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0002651
hpo_term: Spondyloepimetaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0008819
hpo_term: Narrow femoral neck
chpo_term: 股骨颈狭窄
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0005121
hpo_term: Posterior scalloping of vertebral bodies
chpo_term: 椎体后方扇形
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0006127
hpo_term: Long proximal phalanx of finger
chpo_term: 近节指骨修长
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0009836
hpo_term: Broad distal phalanx of finger
chpo_term: 末节指骨变宽
Disease (OMIM:604229):
ANTERIOR SEGMENT DYSGENESIS 5
Anterior segment dysgenesis 5, multiple subtypes

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0011483
hpo_term: Anterior synechiae of the anterior chamber
chpo_term: 前房前粘连
id: HP:0000558
hpo_term: Rieger anomaly
chpo_term: Rieger综合征
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000659
hpo_term: Peters anomaly
chpo_term: Peters 综合征
id: HP:0007676
hpo_term: Hypoplasia of the iris
chpo_term: 虹膜发育不全
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:149600):
Labia minora, incomplete adhesion of
LABIA MINORA, INCOMPLETE ADHESION OF

Associated phenotypes (HPO):
id: HP:0000119
hpo_term: Abnormality of the genitourinary system
chpo_term: 泌尿生殖系统异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619091):
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0012430
hpo_term: Cerebral white matter hypoplasia
chpo_term: 脑白质发育不良
id: HP:0100702
hpo_term: Arachnoid cyst
chpo_term: 蛛网膜囊肿
id: HP:0025336
hpo_term: Delayed ability to sit
chpo_term: 独坐能力延迟
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
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:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
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:0010830
hpo_term: Impaired tactile sensation
chpo_term: 触觉障碍
id: HP:0025190
hpo_term: Bilateral tonic-clonic seizure with generalized onset
chpo_term: 双侧强直- 阵挛发作
id: HP:0009830
hpo_term: Peripheral neuropathy
chpo_term: 周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
Disease (OMIM:182940):
Neural tube defects, susceptibility to
NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO

Associated phenotypes (HPO):
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0002323
hpo_term: Anencephaly
chpo_term: 无脑畸形
id: HP:0008482
hpo_term: Asymmetry of spinal facet joints
chpo_term: 脊柱小关节不对称
id: HP:0002475
hpo_term: Myelomeningocele
chpo_term: 脊髓脊膜膨出
id: HP:0003298
hpo_term: Spina bifida occulta
chpo_term: 隐性脊柱裂
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0012032
hpo_term: Lipoma
chpo_term: 脂肪瘤
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0010305
hpo_term: Absence of the sacrum
chpo_term: 骶骨缺如
id: HP:0000960
hpo_term: Sacral dimple
chpo_term: 骶骨浅窝
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:620610):
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 21
Oocyte/zygote/embryo maturation arrest 21

Associated phenotypes (HPO):
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0033336
hpo_term: Zygotic cleavage failure
chpo_term: 合子分裂失败
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:250100):
Metachromatic leukodystrophy
METACHROMATIC LEUKODYSTROPHY

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
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:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0005609
hpo_term: Gallbladder dysfunction
chpo_term: 胆囊功能障碍
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001283
hpo_term: Bulbar palsy
chpo_term: 球麻痹
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002371
hpo_term: Loss of speech
chpo_term: 言语不能
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0034687
id: HP:0034863
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0007133
hpo_term: Progressive peripheral neuropathy
chpo_term: 进行性周围神经病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0000746
hpo_term: Delusions
chpo_term: 妄想
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
Disease (OMIM:219500):
CYSTATHIONINURIA

Associated phenotypes (HPO):
id: HP:0003153
hpo_term: Cystathioninuria
chpo_term: 胱硫醚尿症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:254400):
Mycosis fungoides
MYCOSIS FUNGOIDES

Associated phenotypes (HPO):
id: HP:0008069
hpo_term: Neoplasm of the skin
chpo_term: 皮肤肿瘤
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎