TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:148350):
KERATODERMA, PALMOPLANTAR, WITH DEAFNESS
Keratoderma, palmoplantar, with deafness

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616063):
POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE
Porokeratosis 8, disseminated superficial Actinic type

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200044
hpo_term: Porokeratosis
chpo_term: 汗孔角化病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619350):
VISCERAL MYOPATHY 2
Visceral myopathy 2

Associated phenotypes (HPO):
id: HP:0002036
hpo_term: Hiatus hernia
chpo_term: 裂孔疝
id: HP:0000021
hpo_term: Megacystis
chpo_term: 巨膀胱症
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0030996
hpo_term: Megaduodenum
chpo_term: 巨十二指肠
id: HP:0031857
hpo_term: Ineffective esophageal peristalsis
chpo_term: 无效食道蠕动
id: HP:0005214
hpo_term: Intestinal obstruction
chpo_term: 肠梗阻
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:0002035
hpo_term: Rectal prolapse
chpo_term: 直肠脱垂
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0002580
hpo_term: Volvulus
chpo_term: 肠扭转
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0100580
hpo_term: Barrett esophagus
chpo_term: Barrett食管
id: HP:0100633
hpo_term: Esophagitis
chpo_term: 食管炎
id: HP:0033165
hpo_term: Necrotizing enterocolitis
chpo_term: 坏死性小肠结肠炎
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
Disease (OMIM:605779):
Nail disorder, nonsyndromic congenital, 7
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 7

Associated phenotypes (HPO):
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0030803
hpo_term: Platonychia
chpo_term: 扁平甲
id: HP:0001598
hpo_term: Concave nail
chpo_term: 反甲
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614674):
PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT
Periodic fever, menstrual cycle-dependent

Associated phenotypes (HPO):
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0200067
hpo_term: Recurrent spontaneous abortion
chpo_term: 复发性自然流产
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
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
Disease (OMIM:105250):
AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1
Amyloidosis, primary localized cutaneous, 1

Associated phenotypes (HPO):
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0012309
hpo_term: Cutaneous amyloidosis
chpo_term: 皮肤淀粉样变
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612563):
DIAMOND-BLACKFAN ANEMIA 8
Diamond-Blackfan anemia 8

Associated phenotypes (HPO):
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0005518
hpo_term: Increased mean corpuscular volume
chpo_term: 平均红细胞体积增加
id: HP:0001972
hpo_term: Macrocytic anemia
chpo_term: 大细胞性贫血
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
Disease (OMIM:616705):
DEAFNESS, AUTOSOMAL RECESSIVE 97
Deafness, autosomal recessive 97

Associated phenotypes (HPO):
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
Disease (OMIM:619436):
CILIARY DYSKINESIA, PRIMARY, 46
Ciliary dyskinesia, primary, 46

Associated phenotypes (HPO):
id: HP:0012265
hpo_term: Ciliary dyskinesia
chpo_term: 纤毛运动异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0032341
hpo_term: Reduced forced vital capacity
chpo_term: 用力肺活量降低
id: HP:0032342
hpo_term: Reduced forced expiratory volume in one second
chpo_term: 每秒用力呼气量减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
Disease (OMIM:618728):
SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003850
hpo_term: Upper-limb metaphyseal irregularity
chpo_term: 上肢干骺端不规则
id: HP:0003051
hpo_term: Enlarged metaphyses
chpo_term: 干骺端膨大
id: HP:0006361
hpo_term: Irregular femoral epiphysis
chpo_term: 股骨骨骺不规则
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0030291
hpo_term: Lower-limb metaphyseal irregularity
chpo_term: 下肢干骺端不规则
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610374):
DIABETES MELLITUS, TRANSIENT NEONATAL, 2
Diabetes mellitus, transient neonatal 2

Associated phenotypes (HPO):
id: HP:0008255
hpo_term: Transient neonatal diabetes mellitus
chpo_term: 新生儿短暂性糖尿病
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619422):
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31
Spinocerebellar ataxia, autosomal recessive 31

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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: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:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0004619
hpo_term: Lumbar kyphoscoliosis
chpo_term: 腰椎后侧凸
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0003763
hpo_term: Bruxism
chpo_term: 磨牙症
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
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:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0001761
hpo_term: Pes cavus
chpo_term: 高弓足
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0034007
hpo_term: Posterior atrophy of corpus callosum
chpo_term: 胼胝体后部萎缩
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
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:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0000742
hpo_term: Self-mutilation
chpo_term: 自残
Disease (OMIM:212780):
Cenani-Lenz syndactyly syndrome
CENANI-LENZ SYNDACTYLY SYNDROME

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0000086
hpo_term: Ectopic kidney
chpo_term: 异位肾
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006357
hpo_term: Premature loss of permanent teeth
chpo_term: 恒牙过早脱落
id: HP:0009701
hpo_term: Metacarpal synostosis
chpo_term: 掌骨骨性融合
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0002974
hpo_term: Radioulnar synostosis
chpo_term: 桡尺骨融合
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
Disease (OMIM:245800):
LAURENCE-MOON SYNDROME
Laurence-Moon syndrome

Associated phenotypes (HPO):
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
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:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
Disease (OMIM:260470):
Panencephalitis, subacute sclerosing
SUBACUTE SCLEROSING PANENCEPHALITIS

Associated phenotypes (HPO):
id: HP:0002383
hpo_term: Infectious encephalitis
chpo_term: 传染性脑炎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:612577):
Amyotrophic lateral sclerosis 11
AMYOTROPHIC LATERAL SCLEROSIS 11

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002483
hpo_term: Bulbar signs
chpo_term: 球部体征
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002493
hpo_term: Upper motor neuron dysfunction
chpo_term: 上运动神经元功能障碍/功能异常
id: HP:0007354
hpo_term: Amyotrophic lateral sclerosis
chpo_term: 肌萎缩侧索硬化
id: HP:0000762
hpo_term: Decreased nerve conduction velocity
chpo_term: 神经传导速度降低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:208900):
ATAXIA-TELANGIECTASIA
Ataxia-telangiectasia

Associated phenotypes (HPO):
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
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:0002783
hpo_term: Recurrent lower respiratory tract infections
chpo_term: 反复下呼吸道感染
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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
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:0000957
hpo_term: Cafe-au-lait spot
chpo_term: 牛奶咖啡斑
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000134
hpo_term: Female hypogonadism
chpo_term: 女性性腺功能减退症
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002075
hpo_term: Dysdiadochokinesis
chpo_term: 轮替运动障碍
id: HP:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0012539
hpo_term: Non-Hodgkin lymphoma
chpo_term: 非霍奇金淋巴瘤
id: HP:0012189
hpo_term: Hodgkin lymphoma
chpo_term: 霍奇金淋巴瘤
id: HP:0000524
hpo_term: Conjunctival telangiectasia
chpo_term: 结膜毛细血管扩张
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000246
hpo_term: Sinusitis
chpo_term: 鼻窦炎
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0005357
hpo_term: Defective B cell differentiation
chpo_term: B细胞分化缺陷
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001909
hpo_term: Leukemia
chpo_term: 白血病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000778
hpo_term: Hypoplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0006254
hpo_term: Elevated alpha-fetoprotein
chpo_term: α-甲胎蛋白升高
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0010975
hpo_term: Abnormal B cell count
chpo_term: B细胞数量异常
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0008348
hpo_term: Decreased circulating IgG2 level
chpo_term: 循环IgG2水平降低
id: HP:0006721
hpo_term: Acute lymphoblastic leukemia
chpo_term: 急性淋巴细胞白血病
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
id: HP:0008669
hpo_term: Abnormal spermatogenesis
chpo_term: 生精异常
Disease (OMIM:142669):
Hip dysplasia, Beukes type
BEUKES HIP DYSPLASIA

Associated phenotypes (HPO):
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
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:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008783
hpo_term: Wide proximal femoral metaphysis
chpo_term: 股骨近端干骺端增宽
id: HP:0003370
hpo_term: Flat capital femoral epiphysis
chpo_term: 股骨近端骨骺扁平
id: HP:0005041
hpo_term: Irregular capital femoral epiphysis
chpo_term: 股骨头骨骺不规则
id: HP:0003182
hpo_term: Shallow acetabular fossae
chpo_term: 髋臼窝变浅
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:229070):
Hypogonadotropic hypogonadism 24 without anosmia
HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA

Associated phenotypes (HPO):
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003199
hpo_term: Decreased muscle mass
chpo_term: 肌量减少
id: HP:0011969
hpo_term: Elevated circulating luteinizing hormone level
chpo_term: 血液黄体生成素水平升高
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0030341
hpo_term: Decreased circulating follicle stimulating hormone concentration
chpo_term: 循环卵泡刺激素浓度降低
id: HP:0000789
hpo_term: Infertility
chpo_term: 不孕症/不育症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004408
hpo_term: Abnormality of the sense of smell
chpo_term: 嗅觉异常
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
id: HP:0000027
hpo_term: Azoospermia
chpo_term: 无精症
Disease (OMIM:106995):
Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges
ANONYCHIA-ONYCHODYSTROPHY WITH HYPOPLASIA OR ABSENCE OF DISTAL PHALANGES

Associated phenotypes (HPO):
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0005793
hpo_term: Shortening of all distal phalanges of the toes
chpo_term: 全部脚趾远节趾骨缩短
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009943
hpo_term: Complete duplication of thumb phalanx
chpo_term: 拇指指骨完全重复
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0006118
hpo_term: Shortening of all distal phalanges of the fingers
chpo_term: 手指的所有远端指骨缩短
Disease (OMIM:611718):
HYPOMAGNESEMIA 4, RENAL
Hypomagnesemia 4, renal

Associated phenotypes (HPO):
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002917
hpo_term: Hypomagnesemia
chpo_term: 低镁血症
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:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:108760):
ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTIVE DEAFNESS
Atresia of external auditory canal and conduction deafness

Associated phenotypes (HPO):
id: HP:0005906
hpo_term: Delayed pneumatization of the mastoid process
chpo_term: 乳突气腔形成延迟
id: HP:0008773
hpo_term: Aplasia/Hypoplasia of the middle ear
chpo_term: 中耳发育缺陷/不全
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000402
hpo_term: Stenosis of the external auditory canal
chpo_term: 外耳道狭窄
id: HP:0000413
hpo_term: Atresia of the external auditory canal
chpo_term: 外耳道闭锁
Disease (OMIM:614890):
Immunodeficiency 29
IMMUNODEFICIENCY 29

Associated phenotypes (HPO):
id: HP:0020086
hpo_term: BCGitis
chpo_term: 接种卡介苗后局部或周边感染
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:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
Disease (OMIM:607152):
Spastic paraplegia 19, autosomal dominant
SPASTIC PARAPLEGIA 19, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0000012
hpo_term: Urinary urgency
chpo_term: 尿急
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002061
hpo_term: Lower limb spasticity
chpo_term: 下肢痉挛
id: HP:0011449
hpo_term: Knee clonus
chpo_term: 膝阵挛
id: HP:0011448
hpo_term: Ankle clonus
chpo_term: 踝阵挛
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0002839
hpo_term: Urinary bladder sphincter dysfunction
chpo_term: 膀胱括约肌功能障碍
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:617341):
Cerebroretinal microangiopathy with calcifications and cysts 2
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002040
hpo_term: Esophageal varix
chpo_term: 食管静脉曲张
id: HP:0031545
hpo_term: Abnormally low T cell receptor excision circle level
chpo_term: T细胞受体重排删除环水平减低
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0033044
hpo_term: Motor regression
chpo_term: 运动倒退
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007763
hpo_term: Retinal telangiectasia
chpo_term: 视网膜毛细血管扩张
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002216
hpo_term: Premature graying of hair
chpo_term: 少白头
id: HP:0005528
hpo_term: Bone marrow hypocellularity
chpo_term: 骨髓细胞减少
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
Disease (OMIM:616739):
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51
Mental retardation, autosomal recessive 51

Associated phenotypes (HPO):
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: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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
Disease (OMIM:607634):
Osteopetrosis, autosomal dominant 1
OSTEOPETROSIS, AUTOSOMAL DOMINANT 1

Associated phenotypes (HPO):
id: HP:0003148
hpo_term: Elevated serum acid phosphatase
chpo_term: 血清酸性磷酸酶升高
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0005450
hpo_term: Calvarial osteosclerosis
chpo_term: 颅骨硬化
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0011002
hpo_term: Osteopetrosis
chpo_term: 骨硬化
id: HP:0000935
hpo_term: Thickened cortex of long bones
chpo_term: 长骨骨皮质增厚
id: HP:0100789
hpo_term: Torus palatinus
chpo_term: 腭隆凸
id: HP:0200025
hpo_term: Mandibular pain
chpo_term: 下颌疼痛
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
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:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0005789
hpo_term: Generalized osteosclerosis
chpo_term: 周身性骨硬化