TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:556955):
Pancreatic agenesis-holoprosencephaly syndrome

Associated phenotypes (HPO):
id: HP:0000857
hpo_term: Neonatal insulin-dependent diabetes mellitus
chpo_term: 新生儿胰岛素依赖性糖尿病
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0011467
hpo_term: Absent gallbladder
chpo_term: 胆囊缺失
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0030795
hpo_term: Reduced C-peptide level
chpo_term: C-肽水平降低
id: HP:0031209
hpo_term: Decreased circulating lipoprotein lipase concentration
chpo_term: 脂蛋白脂肪酶活性降低
id: HP:0100801
hpo_term: Pancreatic aplasia
chpo_term: 胰腺发育不良
id: HP:0410289
hpo_term: Hypoamylasemia
chpo_term: 低淀粉酶血症
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0000601
hpo_term: Hypotelorism
chpo_term: 眼距过窄
id: HP:0002507
hpo_term: Semilobar holoprosencephaly
chpo_term: 半脑叶前脑无裂畸形
id: HP:0006315
hpo_term: Solitary median maxillary central incisor
chpo_term: 单个上门齿
id: HP:0009658
hpo_term: Aplasia/Hypoplasia of the phalanges of the thumb
chpo_term: 拇指指骨发育不全或发育不良
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0010938
hpo_term: Abnormality of the external nose
chpo_term: 外鼻异常
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
Disease (ORPHA:2075):
Genitopalatocardiac syndrome
Gardner-Silengo-Wachtel syndrome

Associated phenotypes (HPO):
id: HP:0000037
hpo_term: Male pseudohermaphroditism
chpo_term: 男性假两性畸形
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
id: HP:0100335
hpo_term: Non-midline cleft lip
chpo_term: 非中线唇裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0008668
hpo_term: Gonadal dysgenesis, male
chpo_term: 男性性腺发育不良
id: HP:0000003
hpo_term: Multicystic kidney dysplasia
chpo_term: 多囊性肾发育不良
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001162
hpo_term: Postaxial hand polydactyly
chpo_term: 轴后多指畸形
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0005264
hpo_term: Abnormality of the gallbladder
chpo_term: 胆囊异常
id: HP:0100016
hpo_term: Abnormality of mesentery morphology
chpo_term: 肠系膜形态异常
Disease (ORPHA:261120):
Monosomy 14q11.2
Del(14)(q11.2)
14q11.2 microdeletion syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
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:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001863
hpo_term: Toe clinodactyly
chpo_term: 脚趾屈趾畸形
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002263
hpo_term: Exaggerated cupid's bow
chpo_term: 夸张的丘比特唇弓
id: HP:0002553
hpo_term: Highly arched eyebrow
chpo_term: 高拱形眉毛
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
Disease (ORPHA:2074):
Spinocerebellar ataxia-amyotrophy-hearing loss syndrome
Gemignani syndrome
Spinocerebellar ataxia-amyotrophy-deafness syndrome

Associated phenotypes (HPO):
id: HP:0000035
hpo_term: Abnormal testis morphology
chpo_term: 睾丸形态异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004374
hpo_term: Hemiplegia/hemiparesis
chpo_term: 偏瘫/轻偏瘫
id: HP:0007328
hpo_term: Impaired pain sensation
chpo_term: 痛觉障碍
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
Disease (ORPHA:2073):
Gélineau disease
Narcolepsy type 1
Narcolepsy-cataplexy
Hypocretin/orexin deficiency syndrome

Associated phenotypes (HPO):
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0007686
hpo_term: Abnormal pupillary function
chpo_term: 瞳孔功能异常
id: HP:0012452
hpo_term: Restless legs
chpo_term: 不宁腿
id: HP:0025235
hpo_term: Non-rapid eye movement parasomnia
chpo_term: 非快动眼异态睡眠
id: HP:0030014
hpo_term: Female sexual dysfunction
chpo_term: 女性性功能障碍
id: HP:0040307
hpo_term: Male sexual dysfunction
chpo_term: 男性性功能障碍
id: HP:0000711
hpo_term: Restlessness
chpo_term: 坐立不安
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000826
hpo_term: Precocious puberty
chpo_term: 性早熟
id: HP:0001279
hpo_term: Syncope
chpo_term: 晕厥
id: HP:0001350
hpo_term: Slurred speech
chpo_term: 言语不清
id: HP:0000738
hpo_term: Hallucinations
chpo_term: 幻觉
id: HP:0001262
hpo_term: Excessive daytime somnolence
chpo_term: 日间睡眠增多
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0002524
hpo_term: Cataplexy
chpo_term: 猝倒症
id: HP:0010534
hpo_term: Transient global amnesia
chpo_term: 短暂性全面性遗忘症
id: HP:0000017
hpo_term: Nocturia
chpo_term: 夜尿症
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000975
hpo_term: Hyperhidrosis
chpo_term: 多汗症
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002494
hpo_term: Abnormal rapid eye movement sleep
chpo_term: 快速眼动期睡眠异常
id: HP:0002519
hpo_term: Hypnagogic hallucinations
chpo_term: 睡前幻觉
id: HP:0006896
hpo_term: Hypnopompic hallucinations
chpo_term: 醒前幻觉
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0010535
hpo_term: Sleep apnea
chpo_term: 睡眠呼吸暂停
id: HP:0025233
hpo_term: Sleep paralysis
chpo_term: 睡眠瘫痪
id: HP:0000709
hpo_term: Psychosis
chpo_term: 精神病
Disease (ORPHA:2070):
Eosinophilic gastroenteritis
Eosinophilic gastroenterocolitis
Eosinophilic enteritis
EGE

Associated phenotypes (HPO):
id: HP:0001880
hpo_term: Eosinophilia
chpo_term: 嗜酸性粒细胞增多症
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0003193
hpo_term: Allergic rhinitis
chpo_term: 过敏性鼻炎
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001047
hpo_term: Atopic dermatitis
chpo_term: 特应性皮炎
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002243
hpo_term: Protein-losing enteropathy
chpo_term: 蛋白丢失性肠病
id: HP:0002573
hpo_term: Hematochezia
chpo_term: 便血
id: HP:0003565
hpo_term: Elevated erythrocyte sedimentation rate
chpo_term: 红细胞沉降速度升高
Disease (ORPHA:542310):
Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome

Associated phenotypes (HPO):
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0010576
hpo_term: Intracranial cystic lesion
chpo_term: 颅内囊性病变
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
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:0001268
hpo_term: Mental deterioration
chpo_term: 智能衰退
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002135
hpo_term: Basal ganglia calcification
chpo_term: 基底节钙化
id: HP:0002461
hpo_term: Dense calcifications in the cerebellar dentate nucleus
chpo_term: 小脑齿状核致密钙化
id: HP:0007229
hpo_term: Intracerebral periventricular calcifications
chpo_term: 颅内脑室周围钙化
id: HP:0007256
hpo_term: Abnormal pyramidal sign
chpo_term: 锥体束征
id: HP:0007346
hpo_term: Subcortical white matter calcifications
chpo_term: 皮质下白质钙化
id: HP:0100320
hpo_term: Rosenthal fibers
chpo_term: 罗森塔尔纤维
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
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:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001337
hpo_term: Tremor
chpo_term: 震颤
id: HP:0001342
hpo_term: Cerebral hemorrhage
chpo_term: 脑出血
id: HP:0002516
hpo_term: Increased intracranial pressure
chpo_term: 颅内压增高
id: HP:0007291
hpo_term: Posterior fossa cyst
chpo_term: 后颅窝囊肿
id: HP:0011153
hpo_term: Focal motor seizure
chpo_term: 局灶性运动性癫痫发作
id: HP:0000725
hpo_term: Psychotic episodes
chpo_term: 精神病发作
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
Disease (ORPHA:436252):
CID-MIA/early-onset IBD
Combined immunodeficiency-enteropathy spectrum
Combined immunodeficiency-multiple intestinal atresia

Associated phenotypes (HPO):
id: HP:0002589
hpo_term: Gastrointestinal atresia
chpo_term: 消化道闭锁
id: HP:0004430
hpo_term: Severe combined immunodeficiency
chpo_term: 重症联合免疫缺陷
id: HP:0010766
hpo_term: Ectopic calcification
chpo_term: 异位钙化
id: HP:0011100
hpo_term: Intestinal atresia
chpo_term: 肠闭锁
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002223
hpo_term: Absent eyebrow
chpo_term: 无眉
id: HP:0002721
hpo_term: Immunodeficiency
chpo_term: 免疫缺陷
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0005229
hpo_term: Jejunoileal ulceration
chpo_term: 空回肠溃疡
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0025085
hpo_term: Bloody diarrhea
chpo_term: 便血
id: HP:0000778
hpo_term: Hypoplasia of the thymus
chpo_term: 胸腺发育不全
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0002722
hpo_term: Recurrent abscess formation
chpo_term: 反复脓肿形成
id: HP:0005224
hpo_term: Rectal abscess
chpo_term: 直肠脓肿
id: HP:0100592
hpo_term: Peritoneal abscess
chpo_term: 腹膜脓肿
id: HP:0100889
hpo_term: Abnormality of the ductus choledochus
chpo_term: 胆总管异常
id: HP:0000872
hpo_term: Hashimoto thyroiditis
chpo_term: 桥本甲状腺炎
id: HP:0001539
hpo_term: Omphalocele
chpo_term: 脐膨出
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001890
hpo_term: Autoimmune hemolytic anemia
chpo_term: 自身免疫性溶血性贫血
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0010959
hpo_term: Congenital pulmonary airway malformation
chpo_term: 先天性肺气道畸形
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0100651
hpo_term: Type I diabetes mellitus
chpo_term: 1型糖尿病
Disease (ORPHA:2078):
Geroderma osteodysplastica

Associated phenotypes (HPO):
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0000974
hpo_term: Hyperextensible skin
chpo_term: 皮肤过度伸展
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002757
hpo_term: Recurrent fractures
chpo_term: 复发性骨折
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002953
hpo_term: Vertebral compression fracture
chpo_term: 椎体压缩性骨折
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0004568
hpo_term: Beaking of vertebral bodies
chpo_term: 椎体鸟喙样改变
id: HP:0004586
hpo_term: Biconcave vertebral bodies
chpo_term: 双凹椎体
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0100790
hpo_term: Hernia
chpo_term: 疝
Disease (ORPHA:2077):
German syndrome
Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000062
hpo_term: Ambiguous genitalia
chpo_term: 外阴性别不明
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000232
hpo_term: Everted lower lip vermilion
chpo_term: 下唇唇红外翻
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000364
hpo_term: Hearing abnormality
chpo_term: 听力异常
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000534
hpo_term: Abnormal eyebrow morphology
chpo_term: 眉毛形态异常
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001671
hpo_term: Abnormal cardiac septum morphology
chpo_term: 心脏间隔异常
id: HP:0002015
hpo_term: Dysphagia
chpo_term: 吞咽困难
id: HP:0002167
hpo_term: Neurological speech impairment
chpo_term: 神经语言障碍
id: HP:0002375
hpo_term: Hypokinesia
chpo_term: 运动减少
id: HP:0002804
hpo_term: Arthrogryposis multiplex congenita
chpo_term: 先天性多发性关节挛缩
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:521411):
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Autosomal recessive axonal CMT due to copper metabolism defect

Associated phenotypes (HPO):
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0001349
hpo_term: Facial diplegia
chpo_term: 双侧面瘫
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0002166
hpo_term: Impaired vibration sensation in the lower limbs
chpo_term: 下肢振动觉障碍
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0002359
hpo_term: Frequent falls
chpo_term: 频繁跌倒
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0003376
hpo_term: Steppage gait
chpo_term: 跨阈步态
id: HP:0003444
hpo_term: EMG: chronic denervation signs
chpo_term: 肌电图:慢性失神经支配的征象
id: HP:0007178
hpo_term: Motor polyneuropathy
chpo_term: 多发性运动神经病
id: HP:0007340
hpo_term: Lower limb muscle weakness
chpo_term: 下肢肌肉无力
id: HP:0009027
hpo_term: Foot dorsiflexor weakness
chpo_term: 足背屈无力
id: HP:0009055
hpo_term: Generalized limb muscle atrophy
chpo_term: 广泛性四肢肌肉萎缩
id: HP:0010836
hpo_term: Abnormal circulating copper concentration
chpo_term: 铜稳态平衡异常
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0040081
hpo_term: Abnormal circulating creatine kinase concentration
chpo_term: 血液肌酸激酶水平异常
Disease (ORPHA:526):
Liddle syndrome
Pseudoaldosteronism

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000112
hpo_term: Nephropathy
chpo_term: 肾病
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0002019
hpo_term: Constipation
chpo_term: 便秘
id: HP:0002637
hpo_term: Cerebral ischemia
chpo_term: 脑缺血
id: HP:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
Disease (ORPHA:529):
Roch-Leri mesosomatous lipomatosis

Associated phenotypes (HPO):
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0000979
hpo_term: Purpura
chpo_term: 紫癜
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
Disease (ORPHA:528):
Lipoatrophic diabetes
Congenital generalized lipodystrophy
Berardinelli-Seip congenital lipodystrophy
Berardinelli-Seip syndrome
BSCL
CGL

Associated phenotypes (HPO):
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0008887
hpo_term: Adipose tissue loss
chpo_term: 脂肪组织丢失
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0002155
hpo_term: Hypertriglyceridemia
chpo_term: 高甘油三酯血症
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000294
hpo_term: Low anterior hairline
chpo_term: 前发际低
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000336
hpo_term: Prominent supraorbital ridges
chpo_term: 眶上嵴突出
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001015
hpo_term: Prominent superficial veins
chpo_term: 浅表静脉隆凸
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0003247
hpo_term: Overgrowth of external genitalia
chpo_term: 外生殖器过度生长
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0008665
hpo_term: Clitoral hypertrophy
chpo_term: 阴蒂肥大
id: HP:0011407
hpo_term: Proportionate tall stature
chpo_term: 成比例高身材
id: HP:0012062
hpo_term: Bone cyst
chpo_term: 骨囊肿
id: HP:0030796
hpo_term: Increased C-peptide level
chpo_term: C-肽水平增高
id: HP:0000141
hpo_term: Amenorrhea
chpo_term: 闭经
id: HP:0000147
hpo_term: Polycystic ovaries
chpo_term: 多囊卵巢
id: HP:0000876
hpo_term: Oligomenorrhea
chpo_term: 月经稀发
id: HP:0010465
hpo_term: Precocious puberty in females
chpo_term: 女性性早熟
Disease (ORPHA:523):
HLRCC
Hereditary leiomyomatosis with renal carcinoma
Hereditary leiomyomatosis and renal cell cancer
Hereditary multiple cutaneous leiomyomas
Multiple cutaneous and uterine leiomyomas
Familial leiomyomatosis cutis et uteri
Familial leiomyomatosis and renal cell cancer
Hereditary leiomyomatosis
Familial multiple cutaneous leiomyomas
Familial leiomyomatosis with renal carcinoma
Reed syndrome
MCUL

Associated phenotypes (HPO):
id: HP:0000131
hpo_term: Uterine leiomyoma
chpo_term: 子宫肌瘤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0002891
hpo_term: Uterine leiomyosarcoma
chpo_term: 子宫平滑肌肉瘤
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0006732
hpo_term: Papillary renal cell carcinoma type 2
chpo_term: Ⅱ型乳头状肾细胞癌
id: HP:0007437
hpo_term: Multiple cutaneous leiomyomas
chpo_term: 多发性皮肤平滑肌瘤
id: HP:0007620
hpo_term: Cutaneous leiomyoma
chpo_term: 皮肤平滑肌瘤
id: HP:0100580
hpo_term: Barrett esophagus
chpo_term: Barrett食管
id: HP:0100650
hpo_term: Vaginal neoplasm
chpo_term: 阴道肿瘤
id: HP:0100751
hpo_term: Esophageal neoplasm
chpo_term: 食管肿瘤
Disease (ORPHA:525):
Lichen planus follicularis
Lichen planopilaris
Lichen follicularis
LPP
Follicular lichen planus

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0001053
hpo_term: Hypopigmented skin patches
chpo_term: 皮肤色素减退斑
id: HP:0001059
hpo_term: Pterygium
chpo_term: 翼状胬肉
id: HP:0001231
hpo_term: Abnormal fingernail morphology
chpo_term: 指甲形态异常
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001806
hpo_term: Onycholysis
chpo_term: 甲分离
id: HP:0002242
hpo_term: Abnormal intestine morphology
chpo_term: 小肠形态异常
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0100649
hpo_term: Neoplasm of the oral cavity
chpo_term: 口腔肿瘤
id: HP:0100725
hpo_term: Lichenification
chpo_term: 苔藓样变
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡