TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:201250):
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
Acromesomelic dysplasia, Hunter-Thompson type

Associated phenotypes (HPO):
id: HP:0003038
hpo_term: Fibular hypoplasia
chpo_term: 腓骨发育不良
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0003086
hpo_term: Acromesomelia
chpo_term: 肢端发育不良
id: HP:0005096
hpo_term: Distal femoral bowing
chpo_term: 股骨远端弯曲
id: HP:0008890
hpo_term: Severe short-limb dwarfism
chpo_term: 严重的短肢侏儒症
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0006011
hpo_term: Cuboidal metacarpal
chpo_term: 骰子形掌骨
id: HP:0006110
hpo_term: Shortening of all middle phalanges of the fingers
chpo_term: 所有中节指骨缩短
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0006144
hpo_term: Shortening of all proximal phalanges of the fingers
chpo_term: 近节指骨全部缩短
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006014
hpo_term: Abnormally shaped carpal bones
chpo_term: 腕骨形状异常
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0009778
hpo_term: Short thumb
chpo_term: 短拇指
id: HP:0002984
hpo_term: Hypoplasia of the radius
chpo_term: 桡骨发育不全
Disease (OMIM:612965):
46XY sex reversal 3
46,XY SEX REVERSAL 3

Associated phenotypes (HPO):
id: HP:0000808
hpo_term: Penoscrotal hypospadias
chpo_term: 阴茎阴囊型尿道下裂
id: HP:0000013
hpo_term: Hypoplasia of the uterus
chpo_term: 子宫发育不良
id: HP:0000133
hpo_term: Gonadal dysgenesis
chpo_term: 性腺发育不全
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
id: HP:0001470
hpo_term: Sex-limited expression
chpo_term: 限性表达
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
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:0008232
hpo_term: Elevated circulating follicle stimulating hormone level
chpo_term: 血液卵泡刺激素水平升高
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0030913
hpo_term: Exaggerated rugosity of the labia majora
chpo_term: 大阴唇褶皱增多
Disease (OMIM:619824):
AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
Agammaglobulinemia 8B, autosomal recessive

Associated phenotypes (HPO):
id: HP:0005479
hpo_term: Decreased circulating IgE
chpo_term: 循环IgE水平降低
id: HP:0010803
hpo_term: Everted upper lip vermilion
chpo_term: 上唇唇红外翻
id: HP:0410297
hpo_term: Partial absence of specific antibody response to tetanus vaccine
chpo_term: 对破伤风疫苗的特异性抗体应答部分缺失
id: HP:0410395
hpo_term: Increased proportion of effector memory CD8-positive, alpha-beta T cells
chpo_term: 效应记忆性CD8+的α-β T细胞比例增高
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011240
hpo_term: Prominent stem of antihelix
chpo_term: 对耳轮干突出
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0004812
hpo_term: B Acute Lymphoblastic Leukemia
chpo_term: 急性B淋巴细胞白血病
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0500266
hpo_term: Decreased proportion of CD8-positive, alpha-beta TEMRA T cells
chpo_term: CD8阳性的终末效应性α-β T细胞比例减低
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0004432
hpo_term: Agammaglobulinemia
chpo_term: 无丙种球蛋白血症
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010976
hpo_term: B lymphocytopenia
chpo_term: B淋巴细胞减少症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000322
hpo_term: Short philtrum
chpo_term: 人中短
id: HP:0001876
hpo_term: Pancytopenia
chpo_term: 全血细胞减少症
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
Disease (OMIM:617809):
GELEOPHYSIC DYSPLASIA 3
Geleophysic dysplasia 3

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
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:0001607
hpo_term: Subglottic stenosis
chpo_term: 声门下狭窄
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0002777
hpo_term: Tracheal stenosis
chpo_term: 气管狭窄
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0002996
hpo_term: Limited elbow movement
chpo_term: 肘运动受限
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
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:0006248
hpo_term: Limited wrist movement
chpo_term: 腕部运动受限
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:608097):
Periventricular heterotopia with microcephaly, autosomal recessive
PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
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: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:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0032388
hpo_term: Periventricular nodular heterotopia
chpo_term: 脑室周围结节性异位症
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0007165
hpo_term: Periventricular heterotopia
chpo_term: 脑室周围灰质异位
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
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:618284):
MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM
Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002396
hpo_term: Cogwheel rigidity
chpo_term: 齿轮样强直
id: HP:0002064
hpo_term: Spastic gait
chpo_term: 痉挛步态
id: HP:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
Disease (OMIM:615978):
IMMUNODEFICIENCY 27B
Immunodeficiency 27B

Associated phenotypes (HPO):
id: HP:0005661
hpo_term: Salmonella osteomyelitis
chpo_term: 沙门氏菌骨髓炎
id: HP:0011275
hpo_term: Recurrent mycobacterium avium complex infections
chpo_term: 反复鸟分枝杆菌复合菌感染
id: HP:0011274
hpo_term: Recurrent mycobacterial infections
chpo_term: 反复分枝杆菌感染
id: HP:0008940
hpo_term: Generalized lymphadenopathy
chpo_term: 全身性淋巴结肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
Disease (OMIM:616281):
Neurodevelopmental disorder with microcephaly and spastic paraplegia
NEURODEVELOPMENTAL DISORDER WITH SPASTIC PARAPLEGIA AND MICROCEPHALY

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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: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:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
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:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
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:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
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:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
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:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:245348):
PYRUVATE DEHYDROGENASE E2 DEFICIENCY
Pyruvate dehydrogenase E2 deficiency

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0002268
hpo_term: Paroxysmal dystonia
chpo_term: 阵发性肌张力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
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:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0007325
hpo_term: Generalized dystonia
chpo_term: 全面性肌张力障碍
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:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
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:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0032988
hpo_term: Persistent head lag
chpo_term: 持续性头滞后
id: HP:0002928
hpo_term: Decreased activity of the pyruvate dehydrogenase complex
chpo_term: 丙酮酸脱氢酶（PDH）复合物活性降低
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
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:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0006961
hpo_term: Jerky head movements
chpo_term: 抽动样头部运动
Disease (OMIM:614496):
PSEUDOHYPOALDOSTERONISM, TYPE IIE
Pseudohypoaldosteronism, type IIE

Associated phenotypes (HPO):
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0008242
hpo_term: Pseudohypoaldosteronism
chpo_term: 假性醛固酮减少症
id: HP:0004918
hpo_term: Hyperchloremic metabolic acidosis
chpo_term: 高氯性代谢性酸中毒
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0011423
hpo_term: Hyperchloremia
chpo_term: 高氯血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
Disease (OMIM:133500):
EXCHONDROSIS OF PINNA, POSTERIOR
Exchondrosis of pinna, posterior

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
Disease (OMIM:612781):
Growth hormone deficiency, isolated, type IB
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB

Associated phenotypes (HPO):
id: HP:0031878
hpo_term: Acromicria
chpo_term: 肢端过小症
id: HP:0000054
hpo_term: Micropenis
chpo_term: 小阴茎
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0034323
hpo_term: Reduced circulating growth hormone concentration
chpo_term: 循环生长激素水平降低
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
Disease (OMIM:300600):
Aland island eye disease
ALAND ISLAND EYE DISEASE

Associated phenotypes (HPO):
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0005592
hpo_term: Giant melanosomes in melanocytes
chpo_term: 黑素细胞中巨大黑素小体
id: HP:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0011522
hpo_term: Protanopia
chpo_term: 红色盲
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
Disease (OMIM:617821):
Ehlers-Danlos syndrome, arthrochalasia type, 2
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2

Associated phenotypes (HPO):
id: HP:0001187
hpo_term: Hyperextensibility of the finger joints
chpo_term: 指间关节过伸
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
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:0001030
hpo_term: Fragile skin
chpo_term: 敏感性皮肤
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
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:0032153
hpo_term: Joint subluxation
chpo_term: 关节半脱位
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0001822
hpo_term: Hallux valgus
chpo_term: 拇趾外翻
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0000015
hpo_term: Bladder diverticulum
chpo_term: 膀胱憩室
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001623
hpo_term: Breech presentation
chpo_term: 臀先露
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
Disease (OMIM:300614):
Deafness, X-linked 5
DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004454
hpo_term: Abnormal middle ear reflexes
chpo_term: 中耳反射异常
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0003390
hpo_term: Sensory axonal neuropathy
chpo_term: 感觉轴索神经病
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0034585
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001963
hpo_term: Abnormal speech discrimination
chpo_term: 言语辨别异常
Disease (OMIM:204300):
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)
CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0003584
hpo_term: Late onset
chpo_term: 老年期发病
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0002074
hpo_term: Increased neuronal autofluorescent lipopigment
chpo_term: 神经元自体荧光脂褐素增加
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0031475
hpo_term: Status epilepticus without prominent motor symptoms
chpo_term: 非惊厥性癫痫持续状态
id: HP:0002071
hpo_term: Abnormality of extrapyramidal motor function
chpo_term: 锥体外系功能障碍
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
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:0008765
hpo_term: Auditory hallucinations
chpo_term: 幻听
id: HP:0003208
hpo_term: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
chpo_term: 自体荧光脂色素存储物质的细胞内堆积指纹谱
id: HP:0003657
hpo_term: Granular osmiophilic deposits (GROD) in cells
chpo_term: 胞内嗜锇颗粒沉积
id: HP:0007359
hpo_term: Focal-onset seizure
chpo_term: 局灶性发作
id: HP:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0003226
hpo_term: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
chpo_term: 自体荧光脂色素存储物质的直线性胞内堆积
id: HP:0003205
hpo_term: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
chpo_term: 自体荧光脂色素存储物质的胞内曲线堆积
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:312210):
RADIATION SENSITIVITY OF NATURAL KILLER ACTIVITY
Radiation sensitivity of natural killer activity

Associated phenotypes (HPO):
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:614482):
CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION
Congenital cataracts, hearing loss, and neurodegeneration

Associated phenotypes (HPO):
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0010837
hpo_term: Decreased circulating ceruloplasmin concentration
chpo_term: 血清铜蓝蛋白降低
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0001344
hpo_term: Absent speech
chpo_term: 语言丧失
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0002540
hpo_term: Inability to walk
chpo_term: 行走不能
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011967
hpo_term: Decreased circulating copper concentration
chpo_term: 低铜血症
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
id: HP:0012704
hpo_term: Widened subarachnoid space
chpo_term: 蛛网膜下腔增宽
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003429
hpo_term: CNS hypomyelination
chpo_term: 中枢神经系统髓鞘形成减少
Disease (OMIM:257980):
Odontoonychodermal dysplasia
ODONTOONYCHODERMAL DYSPLASIA

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0040162
hpo_term: Orthokeratosis
chpo_term: 正角化
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0011359
hpo_term: Dry hair
chpo_term: 干性毛发
id: HP:0008391
hpo_term: Dystrophic fingernails
chpo_term: 指甲营养不良
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0010298
hpo_term: Smooth tongue
chpo_term: 光舌
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001807
hpo_term: Ridged nail
chpo_term: 甲纵嵴
id: HP:0011065
hpo_term: Conical incisor
chpo_term: 锥状切牙
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0006313
hpo_term: Widely spaced primary teeth
chpo_term: 乳牙间隙增宽
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0025493
hpo_term: Palmoplantar erythema
chpo_term: 掌跖红斑
id: HP:0025114
hpo_term: Hypergranulosis
chpo_term: 颗粒层增厚
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0006481
hpo_term: Abnormality of primary teeth
chpo_term: 乳牙异常
id: HP:0032152
hpo_term: Keratosis pilaris
chpo_term: 毛囊角化症
id: HP:0001816
hpo_term: Thin nail
chpo_term: 薄甲
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
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:0007410
hpo_term: Palmoplantar hyperhidrosis
chpo_term: 掌跖多汗症
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0007556
hpo_term: Plantar hyperkeratosis
chpo_term: 跖部角化过度
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
id: HP:0001799
hpo_term: Short nail
chpo_term: 短甲
id: HP:0006349
hpo_term: Agenesis of permanent teeth
chpo_term: 恒牙发育不全
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症