TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:619311):
Hiatt-Neu-Cooper neurodevelopmental syndrome
HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME

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: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:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0004691
hpo_term: 2-3 toe syndactyly
chpo_term: 第二、三脚趾并趾
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
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: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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:270150):
SJOGREN SYNDROME
Sjogren syndrome

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0001370
hpo_term: Rheumatoid arthritis
chpo_term: 类风湿关节炎
id: HP:0001939
hpo_term: Abnormality of metabolism/homeostasis
chpo_term: 代谢紊乱/稳态失衡
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0000217
hpo_term: Xerostomia
chpo_term: 口腔干燥
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:612244):
Inflammatory bowel disease 13
INFLAMMATORY BOWEL DISEASE 13

Associated phenotypes (HPO):
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
Disease (OMIM:614153):
SPINOCEREBELLAR ATAXIA 36
Spinocerebellar ataxia 36

Associated phenotypes (HPO):
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:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
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:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000514
hpo_term: Slow saccadic eye movements
chpo_term: 慢扫视眼球运动
id: HP:0001308
hpo_term: Tongue fasciculations
chpo_term: 舌肌束震颤
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000511
hpo_term: Vertical supranuclear gaze palsy
chpo_term: 垂直性核上性凝视麻痹
id: HP:0002311
hpo_term: Incoordination
chpo_term: 不协调
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0003445
hpo_term: EMG: neuropathic changes
chpo_term: 肌电图：神经源性变化
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0003487
hpo_term: Babinski sign
chpo_term: 巴彬斯基征
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002070
hpo_term: Limb ataxia
chpo_term: 肢体共济失调
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0007772
hpo_term: Impaired smooth pursuit
chpo_term: 平滑追视障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:616744):
Autoinflammatory syndrome, familial, Behcet-like
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0005764
hpo_term: Polyarticular arthritis
chpo_term: 多发性关节炎
id: HP:0000155
hpo_term: Oral ulcer
chpo_term: 口腔溃疡
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0025343
hpo_term: Lupus anticoagulant
chpo_term: 狼疮抗凝剂
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0032024
hpo_term: Ileal ulcer
chpo_term: 回肠溃疡
id: HP:0002072
hpo_term: Chorea
chpo_term: 舞蹈样运动
id: HP:0012122
hpo_term: Anterior uveitis
chpo_term: 前葡萄膜炎
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003249
hpo_term: Genital ulcers
chpo_term: 生殖器溃疡
Disease (OMIM:619477):
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 3, DIGENIC
Facioscapulohumeral muscular dystrophy 3, digenic

Associated phenotypes (HPO):
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0034045
hpo_term: Angulated muscle fibers
chpo_term: 成角的肌纤维
id: HP:0003551
hpo_term: Difficulty climbing stairs
chpo_term: 爬楼梯困难
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:0010984
hpo_term: Digenic inheritance
chpo_term: 双基因遗传
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0030319
hpo_term: Weakness of facial musculature
chpo_term: 面部肌肉无力
id: HP:0003701
hpo_term: Proximal muscle weakness
chpo_term: 近端肌肉无力
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0011951
hpo_term: Aspiration pneumonia
chpo_term: 吸入性肺炎
id: HP:0000467
hpo_term: Neck muscle weakness
chpo_term: 颈肌无力
Disease (OMIM:601238):
Cerebellar ataxia, Cayman type
CEREBELLAR ATAXIA, CAYMAN TYPE

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0002136
hpo_term: Broad-based gait
chpo_term: 宽基步态
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002078
hpo_term: Truncal ataxia
chpo_term: 躯干性共济失调
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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:0002080
hpo_term: Intention tremor
chpo_term: 意向性震颤
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000338
hpo_term: Hypomimic face
chpo_term: 面具样面容
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000479
hpo_term: Abnormal retinal morphology
chpo_term: 视网膜形态异常
Disease (OMIM:254780):
Myoclonic epilepsy of Lafora
MYOCLONIC EPILEPSY OF LAFORA

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002344
hpo_term: Progressive neurologic deterioration
chpo_term: 进行性神经功能恶化
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0002367
hpo_term: Visual hallucinations
chpo_term: 幻视
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002186
hpo_term: Apraxia
chpo_term: 失用
id: HP:0002121
hpo_term: Generalized non-motor (absence) seizure
chpo_term: 失神发作
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
id: HP:0100318
hpo_term: Lafora bodies
chpo_term: 小体
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0011165
hpo_term: Focal sensory seizure with visual features
chpo_term: 伴有视觉特征的局灶性感觉发作
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007334
hpo_term: Bilateral tonic-clonic seizure with focal onset
chpo_term: 双侧强直阵挛发作
id: HP:0001336
hpo_term: Myoclonus
chpo_term: 肌阵挛
id: HP:0003678
hpo_term: Rapidly progressive
chpo_term: 快速进展
Disease (OMIM:271500):
Splenoportal vascular anomalies
SPLENOPORTAL VASCULAR ANOMALIES

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0005201
hpo_term: Anomalous splenoportal venous system
chpo_term: 异常脾门静脉系统
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0007111
hpo_term: Chronic hepatic encephalopathy
chpo_term: 慢性肝性脑病
id: HP:0001987
hpo_term: Hyperammonemia
chpo_term: 高氨血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
Disease (OMIM:618999):
AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA
Autoinflammation, immune dysregulation, and eosinophilia

Associated phenotypes (HPO):
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0031813
hpo_term: Colonic eosinophilia
chpo_term: 结肠嗜酸性粒细胞增多
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000100
hpo_term: Nephrotic syndrome
chpo_term: 肾病综合征
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0012578
hpo_term: Membranous nephropathy
chpo_term: 膜性肾病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0032021
hpo_term: Eosinophilic liver infiltration
chpo_term: 嗜酸性粒细胞肝脏浸润
id: HP:0500093
hpo_term: Food allergy
chpo_term: 食物过敏
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001407
hpo_term: Hepatic cysts
chpo_term: 肝囊肿
id: HP:0004429
hpo_term: Recurrent viral infections
chpo_term: 反复病毒感染
id: HP:0001433
hpo_term: Hepatosplenomegaly
chpo_term: 肝脾肿大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618741):
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
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:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
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:0008872
hpo_term: Feeding difficulties in infancy
chpo_term: 婴儿期喂养困难
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:607107):
Nasopharyngeal carcinoma
NASOPHARYNGEAL CARCINOMA

Associated phenotypes (HPO):
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
id: HP:0100630
hpo_term: Neoplasia of the nasopharynx
chpo_term: 鼻咽部肿瘤
Disease (OMIM:600668):
Chondrocalcinosis 1
CHONDROCALCINOSIS 1

Associated phenotypes (HPO):
id: HP:0000934
hpo_term: Chondrocalcinosis
chpo_term: 软骨钙质沉着症
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:275000):
GRAVES DISEASE, SUSCEPTIBILITY TO, 1
Graves disease

Associated phenotypes (HPO):
id: HP:0002591
hpo_term: Polyphagia
chpo_term: 多食
id: HP:0200028
hpo_term: Pretibial myxedema
chpo_term: 胫前粘液性水肿
id: HP:0011788
hpo_term: Increased circulating free T3
chpo_term: 血液游离T3升高
id: HP:0000737
hpo_term: Irritability
chpo_term: 易激惹
id: HP:0033077
hpo_term: Increased circulating free T4 concentration
chpo_term: 循环游离T4水平升高
id: HP:0031098
hpo_term: Decreased thyroid-stimulating hormone level
chpo_term: 促甲状腺激素水平降低
id: HP:0100647
hpo_term: Graves disease
chpo_term: Graves病
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0001438
hpo_term: Abnormal abdomen morphology
chpo_term: 腹部形态结构异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000853
hpo_term: Goiter
chpo_term: 甲状腺肿
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
Disease (OMIM:619339):
BARTSOCAS-PAPAS SYNDROME 2
Popliteal pterygium syndrome, Bartsocas-Papas type 2

Associated phenotypes (HPO):
id: HP:0000396
hpo_term: Overfolded helix
chpo_term: 耳轮过度卷曲
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0005650
hpo_term: 2-5 finger cutaneous syndactyly
chpo_term: 第二-五指皮肤性并指
id: HP:0000191
hpo_term: Accessory oral frenulum
chpo_term: 额外口腔系带
id: HP:0001060
hpo_term: Axillary pterygium
chpo_term: 腋窝翼状赘肉
id: HP:0100336
hpo_term: Bilateral cleft lip
chpo_term: 双侧唇裂
id: HP:0100337
hpo_term: Bilateral cleft palate
chpo_term: 双侧腭裂
id: HP:0009760
hpo_term: Antecubital pterygium
chpo_term: 肘前翼状胬肉
id: HP:0005807
hpo_term: Absent distal phalanges
chpo_term: 远节指骨缺失
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:0009755
hpo_term: Ankyloblepharon
chpo_term: 睑缘粘连
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
id: HP:0009756
hpo_term: Popliteal pterygium
chpo_term: 腘窝翼状胬肉
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:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
Disease (OMIM:615503):
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
Short rib-polydactyly syndrome, type VI

Associated phenotypes (HPO):
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
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:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0010454
hpo_term: Acetabular spurs
chpo_term: 髋臼骨刺
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0100732
hpo_term: Pancreatic fibrosis
chpo_term: 胰腺纤维化
id: HP:0100259
hpo_term: Postaxial polydactyly
chpo_term: 轴后多指（趾）
id: HP:0100258
hpo_term: Preaxial polydactyly
chpo_term: 轴前多指（趾）
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000895
hpo_term: Lateral clavicle hook
chpo_term: 锁骨外侧钩
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0006644
hpo_term: Thoracic dysplasia
chpo_term: 胸廓发育不良
Disease (OMIM:613172):
CARDIOMYOPATHY, DILATED, 1DD
Cardiomyopathy, dilated, 1DD

Associated phenotypes (HPO):
id: HP:0025169
hpo_term: Left ventricular systolic dysfunction
chpo_term: 左心室收缩功能障碍
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001645
hpo_term: Sudden cardiac death
chpo_term: 心脏性猝死
id: HP:0001644
hpo_term: Dilated cardiomyopathy
chpo_term: 扩张型心肌病
Disease (OMIM:612278):
Inflammatory bowel disease 19
INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 19

Associated phenotypes (HPO):
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
Disease (OMIM:615517):
Hemochromatosis, type 5
HEMOCHROMATOSIS, TYPE 5

Associated phenotypes (HPO):
id: HP:0012463
hpo_term: Elevated transferrin saturation
chpo_term: 转铁蛋白饱和度升高
id: HP:0010836
hpo_term: Abnormal circulating copper concentration
chpo_term: 铜稳态平衡异常
id: HP:0012465
hpo_term: Elevated hepatic iron concentration
chpo_term: 肝内铁浓度升高
id: HP:0003452
hpo_term: Increased serum iron
chpo_term: 血清铁离子增高
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0032385
hpo_term: Abnormal circulating transferrin concentration
chpo_term: 血液转铁蛋白水平异常
id: HP:0033144
hpo_term: Abnormal circulating ceruloplasmin concentration
chpo_term: 循环铜蓝蛋白浓度异常
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614609):
COFFIN-SIRIS SYNDROME 4
Coffin-Siris syndrome 4

Associated phenotypes (HPO):
id: HP:0010803
hpo_term: Everted upper lip vermilion
chpo_term: 上唇唇红外翻
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
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: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: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:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0100368
hpo_term: Short phalanx of the 5th toe
chpo_term: 第五趾趾骨短
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0011560
hpo_term: Mitral atresia
chpo_term: 二尖瓣闭锁
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
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:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0006237
hpo_term: Prominent interphalangeal joints
chpo_term: 指（趾）间关节突出
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
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:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
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: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:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
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:0000446
hpo_term: Narrow nasal bridge
chpo_term: 鼻梁狭窄
id: HP:0000445
hpo_term: Wide nose
chpo_term: 宽鼻
Disease (OMIM:608220):
SPASTIC PARAPLEGIA 25, AUTOSOMAL RECESSIVE
Spastic paraplegia 25, autosomal recessive

Associated phenotypes (HPO):
id: HP:0002176
hpo_term: Spinal cord compression
chpo_term: 脊髓受压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
id: HP:0001258
hpo_term: Spastic paraplegia
chpo_term: 痉挛性截瘫
id: HP:0030833
hpo_term: Neck pain
chpo_term: 颈痛
Disease (OMIM:306950):
DIAPHRAGMATIC HERNIA 5, X-LINKED
Hernia, anterior diaphragmatic

Associated phenotypes (HPO):
id: HP:0003811
hpo_term: Neonatal death
chpo_term: 新生儿期夭折
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
Disease (OMIM:617300):
Lymphatic malformation 7
LYMPHATIC MALFORMATION 7

Associated phenotypes (HPO):
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0000282
hpo_term: Facial edema
chpo_term: 面部水肿
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0010310
hpo_term: Chylothorax
chpo_term: 乳糜胸
id: HP:0100598
hpo_term: Pulmonary edema
chpo_term: 肺水肿
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0001698
hpo_term: Pericardial effusion
chpo_term: 心包积液
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:146300):
HYPOPHOSPHATASIA, ADULT
Hypophosphatasia, adult

Associated phenotypes (HPO):
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0003282
hpo_term: Low alkaline phosphatase
chpo_term: 低碱性磷酸酶
id: HP:0003040
hpo_term: Arthropathy
chpo_term: 关节病
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0000934
hpo_term: Chondrocalcinosis
chpo_term: 软骨钙质沉着症
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0006323
hpo_term: Premature loss of primary teeth
chpo_term: 乳牙过早脱落
id: HP:0006357
hpo_term: Premature loss of permanent teeth
chpo_term: 恒牙过早脱落
id: HP:0003239
hpo_term: Phosphoethanolaminuria
chpo_term: 磷酸乙醇胺尿症
id: HP:0002756
hpo_term: Pathologic fracture
chpo_term: 病理性骨折
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:611771):
Lipoprotein glomerulopathy
LIPOPROTEIN GLOMERULOPATHY

Associated phenotypes (HPO):
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
id: HP:0012574
hpo_term: Mesangial hypercellularity
chpo_term: 肾小球系膜增生
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿