TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:252160):
MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
Molybdenum cofactor deficiency, complementation group B

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0011935
hpo_term: Decreased urinary urate
chpo_term: 尿液中尿酸盐减少
id: HP:0011814
hpo_term: Increased urinary hypoxanthine
chpo_term: 尿次黄嘌呤增高
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:0003570
hpo_term: Molybdenum cofactor deficiency
chpo_term: 钼辅助因子缺乏
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
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:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0003447
hpo_term: Axonal loss
chpo_term: 轴突缺失
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0002179
hpo_term: Opisthotonus
chpo_term: 角弓反张
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0010934
hpo_term: Xanthinuria
chpo_term: 黄嘌呤尿症
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:0003166
hpo_term: Increased urinary taurine
chpo_term: 尿牛磺酸增加
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0011942
hpo_term: Increased urinary sulfite
chpo_term: 尿亚硫酸盐增加
id: HP:0012019
hpo_term: Lens luxation
chpo_term: 晶状体脱位
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0011096
hpo_term: Peripheral demyelination
chpo_term: 周围性脱髓鞘
id: HP:0000804
hpo_term: Xanthine nephrolithiasis
chpo_term: 肾黄嘌呤结石
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003739
hpo_term: Myoclonic spasms
chpo_term: 肌阵挛性抽搐
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0003537
hpo_term: Hypouricemia
chpo_term: 低尿酸血症
Disease (OMIM:220290):
Deafness, autosomal recessive 1A
DEAFNESS, AUTOSOMAL RECESSIVE 1A

Associated phenotypes (HPO):
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:0010984
hpo_term: Digenic inheritance
chpo_term: 双基因遗传
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:180920):
Aplasia of lacrimal and salivary glands
APLASIA OF LACRIMAL AND SALIVARY GLANDS

Associated phenotypes (HPO):
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0001092
hpo_term: Absent lacrimal punctum
chpo_term: 泪小点缺失
id: HP:0007732
hpo_term: Lacrimal gland hypoplasia
chpo_term: 泪腺发育不全
id: HP:0007656
hpo_term: Lacrimal gland aplasia
chpo_term: 泪腺发育缺陷
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:312550):
Retinal dysplasia, primary
RETINAL DYSPLASIA, PRIMARY

Associated phenotypes (HPO):
id: HP:0001493
hpo_term: Falciform retinal fold
chpo_term: 镰状视网膜皱襞
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0007973
hpo_term: Retinal dysplasia
chpo_term: 视网膜发育不良
Disease (OMIM:615962):
GLUCOCORTICOID RESISTANCE, GENERALIZED
Glucocorticoid resistance

Associated phenotypes (HPO):
id: HP:0003154
hpo_term: Increased circulating ACTH level
chpo_term: 血促肾上腺皮质激素（ACTH）水平升高
id: HP:0030088
hpo_term: Increased serum testosterone level
chpo_term: 血清睾酮水平增高
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0025380
hpo_term: Increased circulating androstenedione concentration
chpo_term: 血液雄烯二酮升高
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0200114
hpo_term: Metabolic alkalosis
chpo_term: 代谢性碱中毒
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
Disease (OMIM:125350):
FAILURE OF TOOTH ERUPTION, PRIMARY
Dental noneruption

Associated phenotypes (HPO):
id: HP:0006352
hpo_term: Failure of eruption of permanent teeth
chpo_term: 恒牙萌出失败
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0006335
hpo_term: Persistence of primary teeth
chpo_term: 乳牙存留
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619180):
MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT
Microcephaly 27, primary, autosomal dominant

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
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:0000243
hpo_term: Trigonocephaly
chpo_term: 三角头畸形
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
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:0012510
hpo_term: Extra-axial cerebrospinal fluid accumulation
chpo_term: 轴外脑脊液蓄积
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0011451
hpo_term: Primary microcephaly
chpo_term: 先天性小头畸形
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0030043
hpo_term: Hip subluxation
chpo_term: 髋关节半脱位
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0001840
hpo_term: Metatarsus adductus
chpo_term: 跖内收
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:616258):
Meckel syndrome 12
MECKEL SYNDROME 12

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0010958
hpo_term: Bilateral renal agenesis
chpo_term: 双肾缺如
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0032464
hpo_term: Ureteral hypoplasia
chpo_term: 输尿管发育不良
id: HP:0009760
hpo_term: Antecubital pterygium
chpo_term: 肘前翼状胬肉
id: HP:0001838
hpo_term: Rocker bottom foot
chpo_term: 摇椅足
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006872
hpo_term: Cerebral hypoplasia
chpo_term: 脑发育不全
id: HP:0002139
hpo_term: Arrhinencephaly
chpo_term: 无鼻无脑畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002335
hpo_term: Agenesis of cerebellar vermis
chpo_term: 小脑蚓部发育不全
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:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
Disease (OMIM:610629):
DIAMOND-BLACKFAN ANEMIA 3
Diamond-Blackfan anemia 3

Associated phenotypes (HPO):
id: HP:0011904
hpo_term: Persistence of hemoglobin F
chpo_term: 胎儿血红蛋白F持续存在
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0001896
hpo_term: Reticulocytopenia
chpo_term: 网织细胞减少症
id: HP:0030270
hpo_term: Elevated red cell adenosine deaminase level
chpo_term: 红细胞腺苷脱氨酶活性增高
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0000465
hpo_term: Webbed neck
chpo_term: 蹼颈
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617146):
Arthrogryposis, distal, with impaired proprioception and touch
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0002058
hpo_term: Myopathic facies
chpo_term: 肌病性面容
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003484
hpo_term: Upper limb muscle weakness
chpo_term: 上肢肌无力
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:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0007010
hpo_term: Poor fine motor coordination
chpo_term: 精细动作协调差
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
Disease (OMIM:618275):
Hypotrichosis 14
HYPOTRICHOSIS 14

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002221
hpo_term: Absent axillary hair
chpo_term: 腋毛稀疏
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0010764
hpo_term: Short eyelashes
chpo_term: 短睫
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0002225
hpo_term: Sparse pubic hair
chpo_term: 阴毛稀疏
Disease (OMIM:613320):
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type
SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE

Associated phenotypes (HPO):
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004565
hpo_term: Severe platyspondyly
chpo_term: 重度扁平椎
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0003177
hpo_term: Squared iliac bones
chpo_term: 方形髂骨
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003175
hpo_term: Hypoplastic ischia
chpo_term: 坐骨发育不全
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008455
hpo_term: Dysplastic sacrum
chpo_term: 骶骨发育不良
id: HP:0000239
hpo_term: Large fontanelles
chpo_term: 大囟门
id: HP:0002617
hpo_term: Vascular dilatation
chpo_term: 血管扩张
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0002657
hpo_term: Spondylometaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0001640
hpo_term: Cardiomegaly
chpo_term: 心脏扩大
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0002092
hpo_term: Pulmonary arterial hypertension
chpo_term: 肺动脉高压
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006387
hpo_term: Wide distal femoral metaphysis
chpo_term: 股骨远端干骺端增宽
id: HP:0008786
hpo_term: Iliac crest serration
chpo_term: 髂嵴锯齿状缘
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:615989):
Bardet-Biedl syndrome 12
BARDET-BIEDL SYNDROME 12

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0031500
hpo_term: Abdominal mass
chpo_term: 腹部肿块
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000800
hpo_term: Cystic renal dysplasia
chpo_term: 囊性肾发育不良
id: HP:0030010
hpo_term: Hydrometrocolpos
chpo_term: 子宫阴道积水
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000126
hpo_term: Hydronephrosis
chpo_term: 肾积水
id: HP:0000148
hpo_term: Vaginal atresia
chpo_term: 阴道闭锁
Disease (OMIM:615751):
Hyperammonemia due to carbonic anhydrase VA deficiency
CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0033407
hpo_term: Elevated urine acetoacetic acid level
chpo_term: 尿乙酰乙酸水平升高
id: HP:0001993
hpo_term: Ketoacidosis
chpo_term: 酮症酸中毒
id: HP:0003572
hpo_term: Low plasma citrulline
chpo_term: 低血浆瓜氨酸
id: HP:0002919
hpo_term: Ketonuria
chpo_term: 酮尿
id: HP:0500163
hpo_term: Hypoornithinemia
chpo_term: 低鸟氨酸血症
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0033111
hpo_term: 3-hydroxyisovaleric aciduria
chpo_term: 3-羟基异戊酸尿
id: HP:0040155
hpo_term: Elevated urinary 3-hydroxybutyric acid
chpo_term: 尿3-羟基丁酸水平升高
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0008358
hpo_term: Hyperprolinemia
chpo_term: 高脯氨酸血症
id: HP:0003648
hpo_term: Lacticaciduria
chpo_term: 乳酸血症
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003348
hpo_term: Hyperalaninemia
chpo_term: 高丙氨酸血症
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0005961
hpo_term: Hypoargininemia
chpo_term: 低精氨酸血症
id: HP:0002572
hpo_term: Episodic vomiting
chpo_term: 阵发性呕吐
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0033213
hpo_term: Elevated urine suberic acid level
chpo_term: 尿辛二酸水平升高
id: HP:0500251
hpo_term: Abnormal urine sebacic acid concentration
chpo_term: 尿液癸二酸浓度异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003217
hpo_term: Hyperglutaminemia
chpo_term: 高谷氨酰胺血症
id: HP:0001950
hpo_term: Respiratory alkalosis
chpo_term: 呼吸性碱中毒
id: HP:0002789
hpo_term: Tachypnea
chpo_term: 呼吸过速
Disease (OMIM:114600):
Canine teeth, absence of upper permanent
CANINE TEETH, ABSENCE OF UPPER PERMANENT

Associated phenotypes (HPO):
id: HP:0012738
hpo_term: Agenesis of canine
chpo_term: 犬齿发育不全
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:190500):
Triphalangeal thumb with double phalanges
TRIPHALANGEAL THUMB WITH DOUBLE PHALANGES

Associated phenotypes (HPO):
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0009606
hpo_term: Complete duplication of distal phalanx of the thumb
chpo_term: 拇指末节指骨完全重复
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614329):
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 31
Mental retardation, autosomal recessive 31

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618513):
Leber congenital amaurosis 19
LEBER CONGENITAL AMAUROSIS 19

Associated phenotypes (HPO):
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000546
hpo_term: Retinal degeneration
chpo_term: 视网膜变性
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000654
hpo_term: Decreased light- and dark-adapted electroretinogram amplitude
chpo_term: 光和暗适应视网膜电图振幅降低
Disease (OMIM:300801):
Chromosome xp11.23-p11.22 duplication syndrome
CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0010747
hpo_term: Medial flaring of the eyebrow
chpo_term: 眉中部发散扩展
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0100962
hpo_term: Shyness
chpo_term: 害羞
id: HP:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0005709
hpo_term: 2-3 toe cutaneous syndactyly
chpo_term: 第二、三脚趾皮肤性并趾
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
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:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
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:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0006304
hpo_term: Widely-spaced incisors
chpo_term: 切牙间隙过宽
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:601042):
Dystonia 9
DYSTONIA 9

Associated phenotypes (HPO):
id: HP:0003401
hpo_term: Paresthesia
chpo_term: 感觉异常
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002131
hpo_term: Episodic ataxia
chpo_term: 发作性共济失调
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002062
hpo_term: Morphological abnormality of the pyramidal tract
chpo_term: 锥体束的形态异常
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:600348):
Band heterotopia
BAND HETEROTOPIA

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0032409
hpo_term: Subcortical band heterotopia
chpo_term: 皮层下带异位症
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0012736
hpo_term: Profound global developmental delay
chpo_term: 严重的全脑发育迟缓
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0025517
hpo_term: Hypoplastic hippocampus
chpo_term: 海马回发育不良
id: HP:0002126
hpo_term: Polymicrogyria
chpo_term: 多小脑回