TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:620045):
INTESTINAL DYSMOTILITY SYNDROME
Intestinal dysmotility syndrome

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0030897
hpo_term: Decreased intestinal transit time
chpo_term: 肠道通过时间缩短
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002587
hpo_term: Projectile vomiting
chpo_term: 喷射性呕吐
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0008081
hpo_term: Pes valgus
chpo_term: 足外翻
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0000289
hpo_term: Broad philtrum
chpo_term: 宽人中
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:617825):
Glucocorticoid deficiency 5
GLUCOCORTICOID DEFICIENCY 5

Associated phenotypes (HPO):
id: HP:0008163
hpo_term: Decreased circulating cortisol level
chpo_term: 血皮质醇水平降低
id: HP:0031074
hpo_term: Abnormal response to ACTH stimulation test
chpo_term: ACTH刺激试验反应异常
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
Disease (OMIM:300604):
PREMATURE OVARIAN FAILURE 2B
Premature ovarian failure 2B

Associated phenotypes (HPO):
id: HP:0008209
hpo_term: Premature ovarian insufficiency
chpo_term: 早发性卵巢功能不全
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0001419
hpo_term: X-linked recessive inheritance
chpo_term: X-连锁隐性遗传
id: HP:0034344
hpo_term: Female-limited expression
chpo_term: 女性限性表达
id: HP:0008222
hpo_term: Female infertility
chpo_term: 女性不孕症
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000786
hpo_term: Primary amenorrhea
chpo_term: 原发性闭经
Disease (OMIM:168500):
Parietal foramina
PARIETAL FORAMINA 1

Associated phenotypes (HPO):
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0002697
hpo_term: Parietal foramina
chpo_term: 顶骨孔
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0007385
hpo_term: Aplasia cutis congenita of scalp
chpo_term: 先天性头皮表皮发育不全
id: HP:0000592
hpo_term: Blue sclerae
chpo_term: 蓝巩膜
id: HP:0002084
hpo_term: Encephalocele
chpo_term: 脑膨出
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
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
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
Disease (OMIM:619808):
DEAFNESS, AUTOSOMAL DOMINANT 83
Deafness, autosomal dominant 83

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0008619
hpo_term: Bilateral sensorineural hearing impairment
chpo_term: 双侧感音神经性听觉障碍
id: HP:0003596
hpo_term: Middle age onset
chpo_term: 中年期发病
id: HP:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:125400):
DENTIN DYSPLASIA, TYPE I
Dentin dysplasia, type I, with microdontia and misshapen teeth

Associated phenotypes (HPO):
id: HP:0006350
hpo_term: Pulp obliteration
chpo_term: 牙髓腔闭塞
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0000679
hpo_term: Taurodontia
chpo_term: 牙髓腔增大
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000700
hpo_term: Periapical bone loss
chpo_term: 根尖周的骨质流失
id: HP:0006336
hpo_term: Short dental root
chpo_term: 短牙根
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
Disease (OMIM:249210):
MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME
Megacystis-microcolon-intestinal hypoperistalsis syndrome 1

Associated phenotypes (HPO):
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0010956
hpo_term: Fetal megacystis
chpo_term: 胎儿巨膀胱症
id: HP:0000072
hpo_term: Hydroureter
chpo_term: 输尿管积水
id: HP:0007430
hpo_term: Generalized edema
chpo_term: 广泛水肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
Disease (OMIM:603688):
Prostate cancer/brain cancer susceptibility
PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY

Associated phenotypes (HPO):
id: HP:0100006
hpo_term: Neoplasm of the central nervous system
chpo_term: 中枢神经系统的肿瘤
id: HP:0012125
hpo_term: Prostate cancer
chpo_term: 前列腺癌
Disease (OMIM:614492):
Pseudohypoaldosteronism, type IIC
PSEUDOHYPOALDOSTERONISM, TYPE IIC

Associated phenotypes (HPO):
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0008242
hpo_term: Pseudohypoaldosteronism
chpo_term: 假性醛固酮减少症
id: HP:0004918
hpo_term: Hyperchloremic metabolic acidosis
chpo_term: 高氯性代谢性酸中毒
id: HP:0032066
hpo_term: Decreased serum bicarbonate concentration
chpo_term: 血清碳酸氢盐浓度降低
id: HP:0003351
hpo_term: Decreased circulating renin level
chpo_term: 血肾素水平降低
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0011423
hpo_term: Hyperchloremia
chpo_term: 高氯血症
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
Disease (OMIM:200610):
ACHONDROGENESIS, TYPE II
Achondrogenesis, type II

Associated phenotypes (HPO):
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0001552
hpo_term: Barrel-shaped chest
chpo_term: 桶状胸
id: HP:6000653
id: HP:0001090
hpo_term: Abnormally large globe
chpo_term: 大眼球
id: HP:0003826
hpo_term: Stillbirth
chpo_term: 死胎
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0001248
hpo_term: Short tubular bones of the hand
chpo_term: 手管状骨缩短
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003521
hpo_term: Disproportionate short-trunk short stature
chpo_term: 不成比例的短躯干性矮小
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0005622
hpo_term: Broad long bones
chpo_term: 长骨增宽
id: HP:6000866
id: HP:6000867
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0034198
hpo_term: Second trimester onset
chpo_term: 孕中期起病
id: HP:0000308
hpo_term: Microretrognathia
chpo_term: 下颌小且后移
id: HP:0000888
hpo_term: Horizontal ribs
chpo_term: 横位肋骨
id: HP:0001538
hpo_term: Protuberant abdomen
chpo_term: 腹部隆凸
id: HP:0004605
hpo_term: Absent vertebral body mineralization
chpo_term: 椎体矿化缺如
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002866
hpo_term: Hypoplastic iliac wing
chpo_term: 髂翼发育不全
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:615954):
ACTH-independent macronodular adrenal hyperplasia 2
ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2

Associated phenotypes (HPO):
id: HP:0004324
hpo_term: Increased body weight
chpo_term: 体重增加
id: HP:0001442
hpo_term: Somatic mosaicism
chpo_term: 体细胞嵌合
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0012743
hpo_term: Abdominal obesity
chpo_term: 腹型肥胖
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0008231
hpo_term: Macronodular adrenal hyperplasia
chpo_term: 大结节性肾上腺皮质增生症
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0012030
hpo_term: Increased urinary cortisol level
chpo_term: 尿皮质醇水平增高
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002920
hpo_term: Decreased circulating ACTH level
chpo_term: 血促肾上腺皮质激素水平降低
id: HP:0003118
hpo_term: Increased circulating cortisol level
chpo_term: 血皮质醇水平增加
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:309620):
Mental retardation, skeletal dysplasia, and abducens palsy
MENTAL RETARDATION, SKELETAL DYSPLASIA, AND ABDUCENS PALSY

Associated phenotypes (HPO):
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005487
hpo_term: Prominent metopic ridge
chpo_term: 额嵴突出
id: HP:0002949
hpo_term: Fused cervical vertebrae
chpo_term: 颈椎融合
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0001417
hpo_term: X-linked inheritance
chpo_term: X-连锁遗传
id: HP:0008467
hpo_term: Thoracic hemivertebrae
chpo_term: 胸椎半椎体
id: HP:0006897
hpo_term: Abducens palsy
chpo_term: 外展神经麻痹
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001952
hpo_term: Glucose intolerance
chpo_term: 糖耐量异常
Disease (OMIM:159050):
Muscular dystrophy, pseudohypertrophic, with internalized capillaries
MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC, WITH INTERNALIZED CAPILLARIES

Associated phenotypes (HPO):
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0030230
hpo_term: Central core regions in muscle fibers
chpo_term: 肌肉纤维的中央核区域
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:618243):
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 22
Mitochondrial complex I deficiency, nuclear type 22

Associated phenotypes (HPO):
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
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:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0032653
hpo_term: Elevated lactate:pyruvate ratio
chpo_term: 乳酸/丙酮酸比例升高
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0011923
hpo_term: Decreased activity of mitochondrial complex I
chpo_term: 线粒体复合物I活性降低
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:615767):
Immunodeficiency, common variable, 11
IMMUNODEFICIENCY, COMMON VARIABLE, 11

Associated phenotypes (HPO):
id: HP:0002037
hpo_term: Inflammation of the large intestine
chpo_term: 大肠炎症
id: HP:0003212
hpo_term: Increased circulating IgE level
chpo_term: 循环IgE升高
id: HP:0100280
hpo_term: Crohn's disease
chpo_term: 克罗恩氏病
id: HP:0030388
hpo_term: Decreased proportion of class-switched memory B cells
chpo_term: 类别转换型记忆性 B 细胞比例减低
id: HP:0011839
hpo_term: Abnormal T cell count
chpo_term: T细胞数量异常
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0100759
hpo_term: Clubbing of fingers
chpo_term: 杵状指
id: HP:0033343
hpo_term: Mucoid diarrhea
chpo_term: 黏液状腹泻
id: HP:0032154
hpo_term: Aphthous ulcer
chpo_term: 口疮性溃疡
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:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
Disease (OMIM:114150):
CAMPTOBRACHYDACTYLY

Associated phenotypes (HPO):
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001161
hpo_term: Hand polydactyly
chpo_term: 多指
id: HP:0000020
hpo_term: Urinary incontinence
chpo_term: 尿失禁
id: HP:0001153
hpo_term: Septate vagina
chpo_term: 阴道纵膈
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0005879
hpo_term: Congenital finger flexion contractures
chpo_term: 先天性手指屈曲挛缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
Disease (OMIM:278740):
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E
Xeroderma pigmentosum, complementation group E

Associated phenotypes (HPO):
id: HP:0002861
hpo_term: Melanoma
chpo_term: 黑色素瘤
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0003079
hpo_term: Defective DNA repair after ultraviolet radiation damage
chpo_term: 紫外线辐射后DNA损伤修复缺陷
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0000491
hpo_term: Keratitis
chpo_term: 角膜炎
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0000509
hpo_term: Conjunctivitis
chpo_term: 结膜炎
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001009
hpo_term: Telangiectasia
chpo_term: 毛细血管扩张
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0000621
hpo_term: Entropion
chpo_term: 眼睑内翻
Disease (OMIM:613470):
Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

Associated phenotypes (HPO):
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0010871
hpo_term: Sensory ataxia
chpo_term: 感觉性共济失调
id: HP:0001082
hpo_term: Cholecystitis
chpo_term: 胆囊炎
id: HP:0011993
hpo_term: Impaired neutrophil bactericidal activity
chpo_term: 中性粒细胞杀菌活性降低
id: HP:0011981
hpo_term: Pigment gallstones
chpo_term: 色素性胆结石
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003568
hpo_term: Decreased glucosephosphate isomerase level
chpo_term: 葡萄糖磷酸异构酶活性降低
id: HP:0001930
hpo_term: Nonspherocytic hemolytic anemia
chpo_term: 非球形红细胞性溶血性贫血
id: HP:0005525
hpo_term: Spontaneous hemolytic crises
chpo_term: 自发性溶血危象
Disease (OMIM:609428):
TUKEL SYNDROME
Tukel syndrome

Associated phenotypes (HPO):
id: HP:0007936
hpo_term: Restrictive external ophthalmoplegia
chpo_term: 限制性眼外肌麻痹
id: HP:0001491
hpo_term: Congenital fibrosis of extraocular muscles
chpo_term: 先天性眼外肌纤维化
id: HP:0004231
hpo_term: Carpal bone aplasia
chpo_term: 腕骨发育不全
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0006210
hpo_term: Postaxial oligodactyly
chpo_term: 轴后少指（趾）
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
id: HP:0007831
hpo_term: Nonprogressive restrictive external ophthalmoplegia
chpo_term: 非进行性限制性眼外肌麻痹
id: HP:0009702
hpo_term: Carpal synostosis
chpo_term: 腕骨骨性融合
id: HP:0001477
hpo_term: Compensatory chin elevation
chpo_term: 代偿性下巴抬高
Disease (OMIM:167800):
Pancreatitis, hereditary
PANCREATITIS, HEREDITARY

Associated phenotypes (HPO):
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0002202
hpo_term: Pleural effusion
chpo_term: 胸腔积液
id: HP:0005213
hpo_term: Pancreatic calcification
chpo_term: 胰腺钙化
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0001977
hpo_term: Abnormal thrombosis
chpo_term: 异常血栓形成
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001733
hpo_term: Pancreatitis
chpo_term: 胰腺炎
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0005206
hpo_term: Pancreatic pseudocyst
chpo_term: 胰腺假性囊肿
Disease (OMIM:618531):
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6
Erythrokeratodermia veriabilis et progressiva 6

Associated phenotypes (HPO):
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0001595
hpo_term: Abnormal hair morphology
chpo_term: 毛发形态异常
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0006482
hpo_term: Abnormality of dental morphology
chpo_term: 牙齿形态异常
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011675
hpo_term: Arrhythmia
chpo_term: 心律失常
id: HP:0000989
hpo_term: Pruritus
chpo_term: 瘙痒
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0031190
hpo_term: Superficial dermal perivascular inflammatory infiltrate
chpo_term: 真皮浅层血管周围炎性浸润
Disease (OMIM:617602):
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
Congenital heart defects and skeletal malformations syndrome

Associated phenotypes (HPO):
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002023
hpo_term: Anal atresia
chpo_term: 肛门闭锁
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010747
hpo_term: Medial flaring of the eyebrow
chpo_term: 眉中部发散扩展
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
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:0000319
hpo_term: Smooth philtrum
chpo_term: 人中扁平
id: HP:0012450
hpo_term: Chronic constipation
chpo_term: 慢性便秘
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000977
hpo_term: Soft skin
chpo_term: 皮肤柔软
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0001166
hpo_term: Arachnodactyly
chpo_term: 细长指(趾)
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0003189
hpo_term: Long nose
chpo_term: 长鼻
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000331
hpo_term: Short chin
chpo_term: 短下巴
id: HP:0002010
hpo_term: Narrow maxilla
chpo_term: 颌骨狭窄
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
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:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000307
hpo_term: Pointed chin
chpo_term: 尖下巴
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0001852
hpo_term: Sandal gap
chpo_term: 木屐足
id: HP:0006522
hpo_term: Repeated pneumothoraces
chpo_term: 反复气胸
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
Disease (OMIM:607411):
PATENT DUCTUS ARTERIOSUS 1
Patent ductus arteriosus 1

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
Disease (OMIM:613464):
Retinitis pigmentosa 51
RETINITIS PIGMENTOSA 51

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
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:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000980
hpo_term: Pallor
chpo_term: 苍白圈
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0010442
hpo_term: Polydactyly
chpo_term: 多指（趾）畸形
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0008323
hpo_term: Abnormal light- and dark-adapted electroretinogram
chpo_term: 异常的明暗适应视网膜电流图
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
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
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
Disease (OMIM:601706):
YEMENITE DEAF-BLIND HYPOPIGMENTATION SYNDROME
Yemenite deaf-blind hypopigmentation syndrome

Associated phenotypes (HPO):
id: HP:0002211
hpo_term: White forelock
chpo_term: 额发变白
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0007509
hpo_term: Patchy hypo- and hyperpigmentation
chpo_term: 斑片状色素减退和色素沉着
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0007587
hpo_term: Numerous pigmented freckles
chpo_term: 多发性雀斑
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0008625
hpo_term: Severe sensorineural hearing impairment
chpo_term: 重度感音神经性耳聋