TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:613718):
DEAFNESS, AUTOSOMAL RECESSIVE 74
Deafness, autosomal recessive 74

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
Disease (OMIM:614077):
Hermansky-Pudlak syndrome 8
HERMANSKY-PUDLAK SYNDROME 8

Associated phenotypes (HPO):
id: HP:0030139
hpo_term: Excessive bleeding after a venipuncture
chpo_term: 静脉穿刺后出血过多
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000483
hpo_term: Astigmatism
chpo_term: 散光
id: HP:0030138
hpo_term: Excessive bleeding from superficial cuts
chpo_term: 表皮伤口出血过多
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0031729
hpo_term: Moderate hypermetropia
chpo_term: 中度远视
id: HP:0012805
hpo_term: Iris transillumination defect
chpo_term: 虹膜透光缺陷
id: HP:0500041
hpo_term: Myopic astigmatism
chpo_term: 近视散光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0008499
hpo_term: High hypermetropia
chpo_term: 高度远视
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0001107
hpo_term: Ocular albinism
chpo_term: 眼白化病
id: HP:0002218
hpo_term: Silver-gray hair
chpo_term: 银灰色毛发
id: HP:0000978
hpo_term: Bruising susceptibility
chpo_term: 瘀斑易感性
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0000132
hpo_term: Menorrhagia
chpo_term: 月经过多症
id: HP:0001022
hpo_term: Albinism
chpo_term: 白化病
id: HP:0003540
hpo_term: Impaired platelet aggregation
chpo_term: 血小板聚集障碍
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012043
hpo_term: Pendular nystagmus
chpo_term: 钟摆样眼球震颤
id: HP:0007750
hpo_term: Hypoplasia of the fovea
chpo_term: 黄斑中心凹发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0007513
hpo_term: Generalized hypopigmentation
chpo_term: 泛发性色素减退
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000225
hpo_term: Gingival bleeding
chpo_term: 牙龈出血
Disease (OMIM:160750):
MYOSITIS

Associated phenotypes (HPO):
id: HP:0100614
hpo_term: Myositis
chpo_term: 肌炎
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607584):
SPASTIC PARAPLEGIA 24, AUTOSOMAL RECESSIVE
Spastic paraplegia 24, autosomal recessive

Associated phenotypes (HPO):
id: HP:0002169
hpo_term: Clonus
chpo_term: 阵挛
id: HP:0003698
hpo_term: Difficulty standing
chpo_term: 站立困难
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:0030051
hpo_term: Tip-toe gait
chpo_term: 脚尖步
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:606842):
CARDIONEUROMYOPATHY WITH HYALINE MASSES AND NEMALINE RODS
Cardioneuromyopathy with hyaline masses and nemaline rods

Associated phenotypes (HPO):
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0005986
hpo_term: Limitation of neck motion
chpo_term: 颈部活动受限
id: HP:0004575
hpo_term: Fusion of midcervical facet joints
chpo_term: 中段颈关节面融合
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0004571
hpo_term: Widening of cervical spinal canal
chpo_term: 颈椎椎管增宽
id: HP:0002094
hpo_term: Dyspnea
chpo_term: 呼吸困难
id: HP:0003690
hpo_term: Limb muscle weakness
chpo_term: 四肢肌肉无力
id: HP:0005185
hpo_term: Global systolic dysfunction
chpo_term: 心脏收缩功能障碍
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0008483
hpo_term: Cervical vertebral bodies with decreased anteroposterior diameter
chpo_term: 颈椎椎体前后径减少
id: HP:0002936
hpo_term: Distal sensory impairment
chpo_term: 远端感觉障碍
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0003798
hpo_term: Nemaline bodies
chpo_term: 杆状体
Disease (OMIM:616489):
Silver-Russell syndrome 3
SILVER-RUSSELL SYNDROME 3

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0004482
hpo_term: Relative macrocephaly
chpo_term: 相对大头畸形
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012741
hpo_term: Unilateral cryptorchidism
chpo_term: 单侧隐睾
id: HP:0009760
hpo_term: Antecubital pterygium
chpo_term: 肘前翼状胬肉
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
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:0000808
hpo_term: Penoscrotal hypospadias
chpo_term: 阴茎阴囊型尿道下裂
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0034391
hpo_term: Elbow contracture
chpo_term: 肘部挛缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:605387):
Cataract 31, multiple types
CATARACT 31, MULTIPLE TYPES

Associated phenotypes (HPO):
id: HP:0100018
hpo_term: Nuclear cataract
chpo_term: 核性白内障
id: HP:0010923
hpo_term: Anterior subcapsular cataract
chpo_term: 前囊下白内障
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:257150):
Neutrophil actin dysfunction
NEUTROPHIL ACTIN DYSFUNCTION

Associated phenotypes (HPO):
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0002718
hpo_term: Recurrent bacterial infections
chpo_term: 反复细菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:606856):
Pancreatic cancer, susceptibility to, 1
PANCREATIC CANCER, SUSCEPTIBILITY TO, 1

Associated phenotypes (HPO):
id: HP:0006725
hpo_term: Pancreatic adenocarcinoma
chpo_term: 胰腺腺癌
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617783):
NEPHROTIC SYNDROME, TYPE 16
Nephrotic syndrome, type 16

Associated phenotypes (HPO):
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0012579
hpo_term: Minimal change glomerulonephritis
chpo_term: 微小病变性肾小球肾炎
Disease (OMIM:224800):
Ectodermal dysplasia and neurosensory deafness
ECTODERMAL DYSPLASIA AND NEUROSENSORY DEAFNESS

Associated phenotypes (HPO):
id: HP:0007529
hpo_term: Hidrotic ectodermal dysplasia
chpo_term: 有汗型外胚层发育不良
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0009473
hpo_term: Joint contracture of the hand
chpo_term: 手指关节痉挛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002943
hpo_term: Thoracic scoliosis
chpo_term: 胸部脊柱侧弯
Disease (OMIM:611494):
Atrial fibrillation, familial, 5
ATRIAL FIBRILLATION, FAMILIAL, 5

Associated phenotypes (HPO):
id: HP:0005110
hpo_term: Atrial fibrillation
chpo_term: 心房纤颤
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
Disease (OMIM:201470):
Acyl-Coa dehydrogenase, short-chain, deficiency of
ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
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: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:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0010695
hpo_term: Sutural cataract
chpo_term: 缝性白内障
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0003219
hpo_term: Ethylmalonic aciduria
chpo_term: 乙基丙二酸尿症
id: HP:0004911
hpo_term: Episodic metabolic acidosis
chpo_term: 阵发性代谢性酸中毒
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:256500):
Netherton syndrome
NETHERTON SYNDROME

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0032061
hpo_term: Hypereosinophilia
chpo_term: 高嗜酸性粒细胞
id: HP:0100665
hpo_term: Angioedema
chpo_term: 血管性水肿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0004779
hpo_term: Brittle scalp hair
chpo_term: 头发干枯
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0004798
hpo_term: Recurrent infection of the gastrointestinal tract
chpo_term: 胃肠道复发性感染
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0001025
hpo_term: Urticaria
chpo_term: 荨麻疹
id: HP:0002299
hpo_term: Brittle hair
chpo_term: 毛发干枯
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001581
hpo_term: Recurrent skin infections
chpo_term: 复发性皮肤感染
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
id: HP:0004906
hpo_term: Hypernatremic dehydration
chpo_term: 高钠脱水
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:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
Disease (OMIM:618498):
POLYDACTYLY, POSTAXIAL, TYPE A10
Polydactyly, postaxial, type A10

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0005696
hpo_term: Postaxial polydactyly type A
chpo_term: 轴后多指趾畸形A型
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
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
Disease (OMIM:620107):
Orofaciodigital syndrome XIX
OROFACIODIGITAL SYNDROME XIX

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0000189
hpo_term: Narrow palate
chpo_term: 上腭狭窄
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000185
hpo_term: Cleft soft palate
chpo_term: 软腭裂
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0011235
hpo_term: Additional crus of antihelix
chpo_term: 对耳轮脚增多
id: HP:0000180
hpo_term: Lobulated tongue
chpo_term: 分叶舌
id: HP:0010055
hpo_term: Broad hallux
chpo_term: 拇趾变宽
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0008577
hpo_term: Underfolded helix
chpo_term: 耳轮卷曲减少
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000378
hpo_term: Cupped ear
chpo_term: 杯状耳
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000456
hpo_term: Bifid nasal tip
chpo_term: 鼻尖裂
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000199
hpo_term: Tongue nodules
chpo_term: 舌结节
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:6000569
id: HP:0011823
hpo_term: Chin with horizontal crease
chpo_term: 髁唇沟凹陷
id: HP:0000191
hpo_term: Accessory oral frenulum
chpo_term: 额外口腔系带
id: HP:0009370
hpo_term: Type A brachydactyly
chpo_term: A型短指
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:300752):
PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED
Protoporphyria, erythropoietic, X-linked

Associated phenotypes (HPO):
id: HP:0012187
hpo_term: Increased erythrocyte protoporphyrin concentration
chpo_term: 红细胞原卟啉浓度增高
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001423
hpo_term: X-linked dominant inheritance
chpo_term: X-连锁显性遗传
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
Disease (OMIM:619786):
Epidermolysis bullosa, junctional 3B, severe
EPIDERMOLYSIS BULLOSA, JUNCTIONAL 3B, SEVERE

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001597
hpo_term: Abnormality of the nail
chpo_term: 指（趾）甲异常
id: HP:0003341
hpo_term: Lamina lucida cleavage
chpo_term: 透明层裂隙
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0100613
hpo_term: Death in early adulthood
chpo_term: 成年早期死亡
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001522
hpo_term: Death in infancy
chpo_term: 婴儿期夭折
id: HP:0200097
hpo_term: Oral mucosal blisters
chpo_term: 口腔粘膜水泡
Disease (OMIM:617973):
METHEMOGLOBINEMIA, ALPHA TYPE
Methemoglobinemia, Alpha type

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0012119
hpo_term: Methemoglobinemia
chpo_term: 高铁血红蛋白血症
id: HP:0000961
hpo_term: Cyanosis
chpo_term: 紫绀
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:178651):
PULMONIC STENOSIS AND DEAFNESS
Pulmonic stenosis and deafness

Associated phenotypes (HPO):
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001714
hpo_term: Ventricular hypertrophy
chpo_term: 心室肥厚
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:617967):
HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES
Hydrocephalus, congenital, 3, with brain anomalies

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0012642
hpo_term: Cerebellar agenesis
chpo_term: 小脑发育不全
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0005989
hpo_term: Redundant neck skin
chpo_term: 颈部皮肤增厚
id: HP:0002324
hpo_term: Hydranencephaly
chpo_term: 积水型无脑畸形
Disease (OMIM:228960):
HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY
Flaujeac factor deficiency

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0005527
hpo_term: Reduced kininogen activity
chpo_term: 激肽原活性降低
id: HP:0003645
hpo_term: Prolonged partial thromboplastin time
chpo_term: 部分凝血活酶时间延长
Disease (OMIM:615816):
Immunodeficiency 23
IMMUNODEFICIENCY 23

Associated phenotypes (HPO):
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0020072
hpo_term: Persistent EBV viremia
chpo_term: 持续性EBV病毒血症
id: HP:0002043
hpo_term: Esophageal stricture
chpo_term: 食管狭窄
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0003496
hpo_term: Increased circulating IgM level
chpo_term: 循环IgM水平升高
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0032163
hpo_term: Molluscum contagiosum
chpo_term: 接触传染性软疣
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
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:0025615
hpo_term: Abscess
chpo_term: 脓肿
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0410323
hpo_term: Drug allergy
chpo_term: 药物性过敏
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000793
hpo_term: Membranoproliferative glomerulonephritis
chpo_term: 膜增生性肾小球肾炎
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0200029
hpo_term: Vasculitis in the skin
chpo_term: 皮肤血管炎
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0011400
hpo_term: Abnormal CNS myelination
chpo_term: 中枢神经系统髓鞘异常
id: HP:0032170
hpo_term: Severe varicella zoster infection
chpo_term: 重度水痘带状疱疹感染
id: HP:0012189
hpo_term: Hodgkin lymphoma
chpo_term: 霍奇金淋巴瘤
id: HP:0040148
hpo_term: Cortical myoclonus
chpo_term: 皮质性肌阵挛
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0002726
hpo_term: Recurrent Staphylococcus aureus infections
chpo_term: 反复金黄色葡萄球菌感染
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0007499
hpo_term: Recurrent staphylococcal infections
chpo_term: 反复葡萄球菌感染
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0003237
hpo_term: Increased circulating IgG level
chpo_term: 循环IgG水平升高
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0001875
hpo_term: Neutropenia
chpo_term: 中性粒细胞减少症
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
Disease (OMIM:165600):
Orbital margin, hypoplasia of
ORBITAL MARGIN, HYPOPLASIA OF

Associated phenotypes (HPO):
id: HP:0000564
hpo_term: Lacrimal duct atresia
chpo_term: 泪道闭锁
id: HP:0000652
hpo_term: Lower eyelid coloboma
chpo_term: 下眼睑缺损
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007647
hpo_term: Congenital extraocular muscle anomaly
chpo_term: 先天性眼外肌异常
Disease (OMIM:209010):
ATHEROSCLEROSIS, PREMATURE, WITH DEAFNESS, NEPHROPATHY, DIABETES MELLITUS, PHOTOMYOCLONUS, AND DEGENERATIVE NEUROLOGIC DISEASE
Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001317
hpo_term: Abnormal cerebellum morphology
chpo_term: 小脑形态异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001327
hpo_term: Photosensitive myoclonic seizure
chpo_term: 光敏性肌阵挛发作
id: HP:0007201
hpo_term: Cerebral artery atherosclerosis
chpo_term: 脑动脉粥样硬化
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001920
hpo_term: Renal artery stenosis
chpo_term: 肾动脉狭窄
id: HP:0001677
hpo_term: Coronary artery atherosclerosis
chpo_term: 冠状动脉粥样硬化
Disease (OMIM:128700):
PREAURICULAR FISTULAE, CONGENITAL
Preauricular fistulae, congenital

Associated phenotypes (HPO):
id: HP:0004467
hpo_term: Preauricular pit
chpo_term: 耳前凹陷
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传