TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:229600):
FRUCTOSE INTOLERANCE, HEREDITARY
Fructose intolerance, hereditary

Associated phenotypes (HPO):
id: HP:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0005973
hpo_term: Fructose intolerance
chpo_term: 果糖不耐受
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003076
hpo_term: Glycosuria
chpo_term: 糖尿
id: HP:0034830
id: HP:0008273
hpo_term: Transient aminoaciduria
chpo_term: 短暂性氨基酸尿
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0003109
hpo_term: Hyperphosphaturia
chpo_term: 高磷酸盐尿症
id: HP:0002018
hpo_term: Nausea
chpo_term: 恶心
id: HP:0003646
hpo_term: Bicarbonaturia
chpo_term: 尿重碳酸氢盐增多
id: HP:0000114
hpo_term: Proximal tubulopathy
chpo_term: 近端肾小管病
id: HP:0002239
hpo_term: Gastrointestinal hemorrhage
chpo_term: 胃肠道出血
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003149
hpo_term: Hyperuricosuria
chpo_term: 高尿酸尿症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0004395
hpo_term: Malnutrition
chpo_term: 营养不良
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002049
hpo_term: Proximal renal tubular acidosis
chpo_term: 近端肾小管酸中毒
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
Disease (OMIM:172870):
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY
Pigmented paravenous chorioretinal atrophy

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0007903
hpo_term: Paravenous chorioretinal atrophy
chpo_term: 静脉旁脉络膜视网膜萎缩
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0007773
hpo_term: Vitreoretinopathy
chpo_term: 玻璃体视网膜病
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:612475):
CHROMOSOME 1q21.1 DUPLICATION SYNDROME
Chromosome 1q21.1 duplication syndrome

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000002
hpo_term: Abnormality of body height
chpo_term: 身高异常
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:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:148520):
Keratosis palmaris et plantaris with clinodactyly
KERATOSIS PALMARIS ET PLANTARIS WITH CLINODACTYLY

Associated phenotypes (HPO):
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:157400):
Milia, multiple eruptive
MILIA, MULTIPLE ERUPTIVE

Associated phenotypes (HPO):
id: HP:0001056
hpo_term: Milia
chpo_term: 粟丘疹
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:607078):
EPIPHYSEAL DYSPLASIA, MULTIPLE, 5
Epiphyseal dysplasia, multiple, 5

Associated phenotypes (HPO):
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0003088
hpo_term: Premature osteoarthritis
chpo_term: 早发性关节炎
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0030838
hpo_term: Hip pain
chpo_term: 髋痛
id: HP:0010585
hpo_term: Small epiphyses
chpo_term: 小骨骺
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0010582
hpo_term: Irregular epiphyses
chpo_term: 不规则骨骺
id: HP:0008103
hpo_term: Delayed tarsal ossification
chpo_term: 跗骨骨化延迟
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002656
hpo_term: Epiphyseal dysplasia
chpo_term: 骨骺发育不良
id: HP:0002654
hpo_term: Multiple epiphyseal dysplasia
chpo_term: 多发性骨骺发育不良
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:610504):
PRETERM PREMATURE RUPTURE OF THE MEMBRANES
Preterm premature rupture of the membranes

Associated phenotypes (HPO):
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0010982
hpo_term: Polygenic inheritance
chpo_term: 多基因遗传
id: HP:0001788
hpo_term: Premature rupture of membranes
chpo_term: 胎膜早破
Disease (OMIM:618158):
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY

Associated phenotypes (HPO):
id: HP:0002465
hpo_term: Poor speech
chpo_term: 少言寡语
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0002066
hpo_term: Gait ataxia
chpo_term: 共济失调步态
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002020
hpo_term: Gastroesophageal reflux
chpo_term: 胃食管反流
id: HP:0030891
hpo_term: Periventricular white matter hyperintensities
chpo_term: 脑室旁白质高信号
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0010863
hpo_term: Receptive language delay
chpo_term: 接受性语言发育迟缓
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0005490
hpo_term: Postnatal macrocephaly
chpo_term: 出生后巨头畸形
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0001988
hpo_term: Recurrent hypoglycemia
chpo_term: 反复发作性低血糖
id: HP:0020045
hpo_term: Esodeviation
chpo_term: 内斜视
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0002317
hpo_term: Unsteady gait
chpo_term: 步态不稳
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:609055):
Ceroid lipofuscinosis, neuronal, 9
CEROID LIPOFUSCINOSIS, NEURONAL, 9

Associated phenotypes (HPO):
id: HP:0002168
hpo_term: Scanning speech
chpo_term: 断续言语
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0002063
hpo_term: Rigidity
chpo_term: 强直
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0002361
hpo_term: Psychomotor deterioration
chpo_term: 精神运动性恶化
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0003819
hpo_term: Death in childhood
chpo_term: 儿童期死亡
id: HP:0001922
hpo_term: Vacuolated lymphocytes
chpo_term: 空泡淋巴细胞
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP: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:0002505
hpo_term: Loss of ambulation
chpo_term: 丧失行走能力
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000654
hpo_term: Decreased light- and dark-adapted electroretinogram amplitude
chpo_term: 光和暗适应视网膜电图振幅降低
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
Disease (OMIM:153100):
Lymphatic malformation 1
LYMPHATIC MALFORMATION 1

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000034
hpo_term: Hydrocele testis
chpo_term: 睾丸鞘膜积液
id: HP:0003550
hpo_term: Predominantly lower limb lymphedema
chpo_term: 主要累及下肢的淋巴水肿
id: HP:0001790
hpo_term: Nonimmune hydrops fetalis
chpo_term: 非免疫性胎儿水肿
id: HP:0032344
hpo_term: Upslanting toenail
chpo_term: 脚趾甲反甲
id: HP:0012227
hpo_term: Urethral stricture
chpo_term: 尿道狭窄
id: HP:0012740
hpo_term: Papilloma
chpo_term: 乳头状瘤
id: HP:0100658
hpo_term: Cellulitis
chpo_term: 蜂窝织炎
id: HP:0003759
hpo_term: Hypoplasia of lymphatic vessels
chpo_term: 淋巴管发育不全
id: HP:0001015
hpo_term: Prominent superficial veins
chpo_term: 浅表静脉隆凸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0007448
hpo_term: Hyperkeratosis over edematous areas
chpo_term: 水肿伴角化过度
id: HP:0001028
hpo_term: Hemangioma
chpo_term: 血管瘤
Disease (OMIM:604571):
Bare lymphocyte syndrome, type I
BARE LYMPHOCYTE SYNDROME, TYPE I

Associated phenotypes (HPO):
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0002097
hpo_term: Emphysema
chpo_term: 气肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0100582
hpo_term: Nasal polyposis
chpo_term: 鼻息肉
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0011109
hpo_term: Chronic sinusitis
chpo_term: 慢性鼻窦炎
id: HP:0000389
hpo_term: Chronic otitis media
chpo_term: 慢性中耳炎
id: HP:0011950
hpo_term: Bronchiolitis
chpo_term: 细支气管炎
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (OMIM:247640):
LYMPHOBLASTIC LEUKEMIA, ACUTE, WITH LYMPHOMATOUS FEATURES
Lymphoblastic leukemia, acute, with lymphomatous features

Associated phenotypes (HPO):
id: HP:0006727
hpo_term: T-cell acute lymphoblastic leukemias
chpo_term: T细胞急性淋巴细胞白血病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0006721
hpo_term: Acute lymphoblastic leukemia
chpo_term: 急性淋巴细胞白血病
id: HP:0002665
hpo_term: Lymphoma
chpo_term: 淋巴瘤
Disease (OMIM:617280):
ATRIAL FIBRILLATION, FAMILIAL, 18
Atrial fibrillation, familial, 18

Associated phenotypes (HPO):
id: HP:0004754
hpo_term: Permanent atrial fibrillation
chpo_term: 永久性心房颤动
id: HP:0001709
hpo_term: Third degree atrioventricular block
chpo_term: 三度房室传导阻滞
id: HP:0001662
hpo_term: Bradycardia
chpo_term: 心动过缓
id: HP:0011705
hpo_term: First degree atrioventricular block
chpo_term: 一度房室传导阻滞
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0001962
hpo_term: Palpitations
chpo_term: 心悸
id: HP:0004757
hpo_term: Paroxysmal atrial fibrillation
chpo_term: 阵发性房颤
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:147820):
Internal carotid artery, spontaneous dissection of
INTERNAL CAROTID ARTERY, SPONTANEOUS DISSECTION OF

Associated phenotypes (HPO):
id: HP:0004945
hpo_term: Extracranial internal carotid artery dissection
chpo_term: 颅外颈内动脉夹层
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:158900):
Facioscapulohumeral muscular dystrophy 1
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1

Associated phenotypes (HPO):
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003691
hpo_term: Scapular winging
chpo_term: 翼状肩胛
id: HP:6001102
id: HP:0012231
hpo_term: Exudative retinal detachment
chpo_term: 渗出性视网膜脱离
id: HP:0012473
hpo_term: Tongue atrophy
chpo_term: 舌萎缩
id: HP:0009023
hpo_term: Abdominal wall muscle weakness
chpo_term: 腹壁肌无力
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0008970
hpo_term: Scapulohumeral muscular dystrophy
chpo_term: 肩肱肌营养不良
id: HP:0007763
hpo_term: Retinal telangiectasia
chpo_term: 视网膜毛细血管扩张
id: HP:0003547
hpo_term: Shoulder girdle muscle weakness
chpo_term: 肩胛带肌肉无力
id: HP:0003724
hpo_term: Shoulder girdle muscle atrophy
chpo_term: 肩胛带肌肉萎缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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:6001010
id: HP:0030664
hpo_term: Beevor's sign
chpo_term: Beevor's征
id: HP:6000864
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0008981
hpo_term: Calf muscle hypertrophy
chpo_term: 小腿肌肉肥大
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003677
hpo_term: Slowly progressive
chpo_term: 缓慢进展
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
Disease (OMIM:613958):
SPERMATOGENIC FAILURE 9
Spermatogenic failure 9

Associated phenotypes (HPO):
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
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:0012205
hpo_term: Globozoospermia
chpo_term: 圆头精子症
Disease (OMIM:115800):
CATARACT 29
Cataract, crystalline coralliform

Associated phenotypes (HPO):
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:613780):
Aortic aneurysm, familial thoracic 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7

Associated phenotypes (HPO):
id: HP:0031649
hpo_term: Aortic rupture
chpo_term: 主动脉破裂
id: HP:0012499
hpo_term: Descending aortic dissection
chpo_term: 降主动脉夹层
id: HP:0004933
hpo_term: Ascending aortic dissection
chpo_term: 升主动脉夹层
id: HP:0004933
hpo_term: Ascending aortic dissection
chpo_term: 升主动脉夹层
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0004942
hpo_term: Aortic aneurysm
chpo_term: 主动脉瘤
id: HP:0001699
hpo_term: Sudden death
chpo_term: 猝死
Disease (OMIM:251750):
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000485
hpo_term: Megalocornea
chpo_term: 巨角膜
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0030961
hpo_term: Microspherophakia
chpo_term: 小球形晶状体
id: HP:0001083
hpo_term: Ectopia lentis
chpo_term: 晶状体异位
id: HP:0100693
hpo_term: Iridodonesis
chpo_term: 虹膜震颤
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000557
hpo_term: Buphthalmos
chpo_term: 爆裂眼
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0007765
hpo_term: Deep anterior chamber
chpo_term: 深前房
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
Disease (OMIM:613794):
Retinitis pigmentosa 20
RETINITIS PIGMENTOSA 20

Associated phenotypes (HPO):
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
Disease (OMIM:616834):
MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS
Microcephaly, congenital cataract, and psoriasiform dermatitis

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003563
hpo_term: Decreased LDL cholesterol concentration
chpo_term: 低β-脂蛋白血症
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0003233
hpo_term: Decreased HDL cholesterol concentration
chpo_term: 低α-脂蛋白血症
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0003146
hpo_term: Hypocholesterolemia
chpo_term: 低胆固醇血症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:6001113
id: HP:6000753
id: HP:6000754
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
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:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000498
hpo_term: Blepharitis
chpo_term: 眼睑炎
id: HP:0003765
hpo_term: Psoriasiform dermatitis
chpo_term: 银屑病样皮炎
Disease (OMIM:311360):
Premature ovarian failure 1
PREMATURE OVARIAN FAILURE 1

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0000837
hpo_term: Increased circulating gonadotropin level
chpo_term: 促性腺激素水平升高
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
Disease (OMIM:617294):
Epidermolysis bullosa simplex, generalized, with scarring and hair loss
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SCARRING AND HAIR LOSS

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002231
hpo_term: Sparse body hair
chpo_term: 体毛稀疏
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0002293
hpo_term: Alopecia of scalp
chpo_term: 头皮脱发
id: HP:0008401
hpo_term: Onychogryposis of toenails
chpo_term: 趾甲弯曲
id: HP:0007447
hpo_term: Diffuse palmoplantar hyperkeratosis
chpo_term: 弥漫性掌跖角化过度
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001810
hpo_term: Dystrophic toenail
chpo_term: 趾甲营养不良
Disease (OMIM:620438):
Ciliary dyskinesia, primary, 51
CILIARY DYSKINESIA, PRIMARY, 51

Associated phenotypes (HPO):
id: HP:0002257
hpo_term: Chronic rhinitis
chpo_term: 慢性鼻炎
id: HP:0001696
hpo_term: Situs inversus totalis
chpo_term: 全内脏反位
id: HP:0002110
hpo_term: Bronchiectasis
chpo_term: 支气管扩张
id: HP:0003251
hpo_term: Male infertility
chpo_term: 男性不育
id: HP:0033036
hpo_term: Decreased nasal nitric oxide
chpo_term: 鼻腔一氧化氮减低
id: HP:0012207
hpo_term: Reduced sperm motility
chpo_term: 精子活力降低
id: HP:0031245
hpo_term: Productive cough
chpo_term: 痰咳
id: HP:0011108
hpo_term: Recurrent sinusitis
chpo_term: 复发性鼻窦炎
id: HP:0032558
hpo_term: Absent sperm flagella
chpo_term: 精子鞭毛缺失
id: HP:0032559
hpo_term: Short sperm flagella
chpo_term: 精子鞭毛短
id: HP:0033393
hpo_term: Irregularly shaped sperm tail
chpo_term: 精子尾部畸形（不规则形状的精子尾）
id: HP:0034011
hpo_term: Reduced progressive sperm motility
chpo_term: 精子前向运动减少
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:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0000798
hpo_term: Oligospermia
chpo_term: 少精症
Disease (OMIM:218350):
CRANIOFACIAL DYSSYNOSTOSIS WITH SHORT STATURE
Craniofacial dyssynostosis with short stature

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000244
hpo_term: Brachyturricephaly
chpo_term: 短尖头畸形
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0002021
hpo_term: Pyloric stenosis
chpo_term: 幽门狭窄
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:0000085
hpo_term: Horseshoe kidney
chpo_term: 马蹄肾
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0002280
hpo_term: Enlarged cisterna magna
chpo_term: 小脑延髓池扩大
id: HP:0011217
hpo_term: Abnormal shape of the occiput
chpo_term: 枕部畸形
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0003745
hpo_term: Sporadic
chpo_term: 散发的
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000357
hpo_term: Abnormal location of ears
chpo_term: 耳位异常
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000272
hpo_term: Malar flattening
chpo_term: 颧骨扁平
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0007099
hpo_term: Chiari type I malformation
chpo_term: 小脑扁桃体下疝畸形（Chiari I 型畸形）
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
Disease (OMIM:614945):
Deafness, autosomal recessive 18B
DEAFNESS, AUTOSOMAL RECESSIVE 18B

Associated phenotypes (HPO):
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: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:0001756
hpo_term: Vestibular hypofunction
chpo_term: 前庭功能减退