TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:250620):
3-hydroxyisobutryl-CoA hydrolase deficiency
3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0003355
hpo_term: Aminoaciduria
chpo_term: 氨基酸尿
id: HP:0001310
hpo_term: Dysmetria
chpo_term: 辨距不良
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:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:6000215
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
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:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0002599
hpo_term: Head titubation
chpo_term: 点头
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
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:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:619799):
Spermatogenic failure 66
SPERMATOGENIC FAILURE 66

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012205
hpo_term: Globozoospermia
chpo_term: 圆头精子症
Disease (OMIM:619941):
Carey-Fineman-Ziter syndrome 2
CAREY-FINEMAN-ZITER SYNDROME 2

Associated phenotypes (HPO):
id: HP:0000220
hpo_term: Velopharyngeal insufficiency
chpo_term: 腭咽机能不全
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000419
hpo_term: Abnormality of the nasal septum
chpo_term: 鼻中隔异常
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0003327
hpo_term: Axial muscle weakness
chpo_term: 中轴肌无力
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0011805
hpo_term: Abnormal skeletal muscle morphology
chpo_term: 骨骼肌形态异常
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0030822
hpo_term: Hooded upper eyelid
chpo_term: 上眼睑悬垂
id: HP:0011094
hpo_term: Increased overbite
chpo_term: 过咬合
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:207750):
APOLIPOPROTEIN C-II DEFICIENCY
Apolipoprotein C-II deficiency

Associated phenotypes (HPO):
id: HP:0000660
hpo_term: Lipemia retinalis
chpo_term: 视网膜脂血症
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0001013
hpo_term: Eruptive xanthomas
chpo_term: 发疹性黄瘤
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0033983
hpo_term: Decreased circulating apolipoprotein C-II concentration
chpo_term: 循环载脂蛋白C-II浓度降低
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0012238
hpo_term: Increased circulating chylomicron concentration
chpo_term: 高乳糜微粒血症
Disease (OMIM:251270):
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1
Microcephaly and chorioretinopathy, autosomal recessive, 1

Associated phenotypes (HPO):
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001000
hpo_term: Abnormality of skin pigmentation
chpo_term: 皮肤着色异常
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
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:0008052
hpo_term: Retinal fold
chpo_term: 视网膜皱襞
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
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:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0007731
hpo_term: Chorioretinal dysplasia
chpo_term: 脉络膜视网膜发育不良
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
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:0000556
hpo_term: Retinal dystrophy
chpo_term: 视网膜营养不良
id: HP:0009879
hpo_term: Simplified gyral pattern
chpo_term: 简化脑回模式
Disease (OMIM:601868):
DEAFNESS, AUTOSOMAL DOMINANT 13
Deafness, autosomal dominant nonsyndromic sensorineural 13

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610965):
XFE progeroid syndrome
XFE PROGEROID SYNDROME

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0003079
hpo_term: Defective DNA repair after ultraviolet radiation damage
chpo_term: 紫外线辐射后DNA损伤修复缺陷
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0007485
hpo_term: Absence of subcutaneous fat
chpo_term: 皮下脂肪缺如
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000559
hpo_term: Corneal scarring
chpo_term: 角膜瘢痕
id: HP:0001620
hpo_term: High pitched voice
chpo_term: 高音调的声音
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000275
hpo_term: Narrow face
chpo_term: 脸狭窄
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:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0002370
hpo_term: Poor coordination
chpo_term: 协调能力下降
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0011421
hpo_term: Death in adolescence
chpo_term: 青春期死亡
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
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:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
Disease (OMIM:200995):
ACROCEPHALOPOLYDACTYLOUS DYSPLASIA
Acrocephalopolydactylous dysplasia

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000263
hpo_term: Oxycephaly
chpo_term: 锥形头
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0005210
hpo_term: Hypoplastic colon
chpo_term: 结肠发育不良
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001748
hpo_term: Polysplenia
chpo_term: 多脾
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0004790
hpo_term: Hypoplasia of the small intestine
chpo_term: 小肠发育不良
id: HP:0100732
hpo_term: Pancreatic fibrosis
chpo_term: 胰腺纤维化
id: HP:0000800
hpo_term: Cystic renal dysplasia
chpo_term: 囊性肾发育不良
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0006544
hpo_term: Extrapulmonary sequestrum
chpo_term: 肺外型肺隔离
id: HP:0000105
hpo_term: Enlarged kidney
chpo_term: 肾脏肿大
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:615809):
PONTOCEREBELLAR HYPOPLASIA, TYPE 9
Pontocerebellar hypoplasia, type 9

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000188
hpo_term: Short upper lip
chpo_term: 上唇短小
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
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:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0006970
hpo_term: Periventricular leukomalacia
chpo_term: 脑室周围白质软化
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
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:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
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:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0025405
hpo_term: Visual fixation instability
chpo_term: 固视不稳定
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:0001257
hpo_term: Spasticity
chpo_term: 痉挛
Disease (OMIM:618493):
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0002045
hpo_term: Hypothermia
chpo_term: 低体温
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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: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:0003273
hpo_term: Hip contracture
chpo_term: 髋关节挛缩
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0011185
hpo_term: EEG with focal epileptiform discharges
chpo_term: 脑电图局灶性癫痫样放电
id: HP:0006094
hpo_term: Finger joint hypermobility
chpo_term: 指关节活动过度
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
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:0000496
hpo_term: Abnormality of eye movement
chpo_term: 眼球运动异常
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0002791
hpo_term: Hypoventilation
chpo_term: 通气不足
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011203
hpo_term: EEG with abnormally slow frequencies
chpo_term: 伴异常缓慢频率的脑电图
id: HP:0004370
hpo_term: Abnormality of temperature regulation
chpo_term: 体温调节异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0000646
hpo_term: Amblyopia
chpo_term: 弱视
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:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:619955):
DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
Dworschak-Punetha neurodevelopmental syndrome

Associated phenotypes (HPO):
id: HP:0003477
hpo_term: Peripheral axonal neuropathy
chpo_term: 轴索性周围神经病
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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: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:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0007766
hpo_term: Optic disc hypoplasia
chpo_term: 视盘发育不良
id: HP:0009748
hpo_term: Large earlobe
chpo_term: 大耳垂
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0030048
hpo_term: Colpocephaly
chpo_term: 枕角扩大畸形
id: HP:0002395
hpo_term: Lower limb hyperreflexia
chpo_term: 下肢腱反射亢进
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012583
hpo_term: Unilateral renal hypoplasia
chpo_term: 单侧肾发育不良
id: HP:0012520
hpo_term: Dilation of Virchow-Robin spaces
chpo_term: 血管周围间隙扩大
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
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:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
Disease (OMIM:620483):
VARIEGATE PORPHYRIA, CHILDHOOD-ONSET
Variegate porphyria, childhood-onset

Associated phenotypes (HPO):
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002384
hpo_term: Focal impaired awareness seizure
chpo_term: 知觉受损的局灶性发作
id: HP:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
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:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012187
hpo_term: Increased erythrocyte protoporphyrin concentration
chpo_term: 红细胞原卟啉浓度增高
id: HP:0034283
hpo_term: Increased fecal protoporphyrin concentration
chpo_term: 粪原卟啉升高
id: HP:0100699
hpo_term: Scarring
chpo_term: 瘢痕形成
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000763
hpo_term: Sensory neuropathy
chpo_term: 感觉神经病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0200041
hpo_term: Skin erosion
chpo_term: 皮肤糜烂
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
Disease (OMIM:619202):
SPERMATOGENIC FAILURE 52
Spermatogenic failure 52

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (OMIM:615438):
Infantile liver failure syndrome 1
INFANTILE LIVER FAILURE SYNDROME 1

Associated phenotypes (HPO):
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003256
hpo_term: Abnormality of the coagulation cascade
chpo_term: 凝血因子级联反应异常
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0010511
hpo_term: Long toe
chpo_term: 长脚趾
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP: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:0100807
hpo_term: Long fingers
chpo_term: 长手指
id: HP:0006554
hpo_term: Acute hepatic failure
chpo_term: 急性肝功能衰竭
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:188740):
TIBIA, HYPOPLASIA OR APLASIA OF, WITH POLYDACTYLY
Tibia, hypoplasia or aplasia of, with polydactyly

Associated phenotypes (HPO):
id: HP:0001199
hpo_term: Triphalangeal thumb
chpo_term: 三指节拇指
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
id: HP:0009556
hpo_term: Absent tibia
chpo_term: 胫骨缺如
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0010503
hpo_term: Fibular duplication
chpo_term: 腓骨重复
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612431):
DEAFNESS, AUTOSOMAL DOMINANT 27
Deafness, autosomal dominant 27

Associated phenotypes (HPO):
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616657):
SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY
Spastic tetraplegia, thin corpus callosum, and progressive microcephaly

Associated phenotypes (HPO):
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0002188
hpo_term: Delayed CNS myelination
chpo_term: 中枢神经系统的髓鞘化延迟
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:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033725
hpo_term: Thin corpus callosum
chpo_term: 薄胼胝体
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0006466
hpo_term: Ankle flexion contracture
chpo_term: 踝关节屈曲挛缩
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
Disease (OMIM:128290):
Ear antitragus, tag at base of
EAR ANTITRAGUS, TAG AT BASE OF

Associated phenotypes (HPO):
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传