TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:616390):
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE
Trichothiodystrophy 2, photosensitive

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000992
hpo_term: Cutaneous photosensitivity
chpo_term: 光感性皮肤
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000690
hpo_term: Agenesis of maxillary lateral incisor
chpo_term: 上颌侧切牙发育不全
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002208
hpo_term: Coarse hair
chpo_term: 毛发粗糙
id: HP:0045055
hpo_term: Tiger tail banding
chpo_term: 老虎尾巴带
id: HP:0007479
hpo_term: Congenital nonbullous ichthyosiform erythroderma
chpo_term: 鱼鳞病样红皮病(大疱型)、大疱性鱼鳞病样角化过度症、显性遗传性先天性鱼鳞病、表皮松解性角化过度鱼鳞病
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618395):
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3
Spondyloepimetaphyseal dysplasia with joint laxity, type 3

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001498
hpo_term: Carpal bone hypoplasia
chpo_term: 腕骨骨发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0012095
hpo_term: Multiple joint dislocation
chpo_term: 多关节脱位
id: HP:0008450
hpo_term: Narrow vertebral interpedicular distance
chpo_term: 椎弓根间隙变窄
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0004976
hpo_term: Knee dislocation
chpo_term: 膝关节脱位
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0002651
hpo_term: Spondyloepimetaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0003022
hpo_term: Hypoplasia of the ulna
chpo_term: 尺骨发育不良
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000268
hpo_term: Dolichocephaly
chpo_term: 长头畸形
id: HP:0000883
hpo_term: Thin ribs
chpo_term: 瘦小肋骨
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
Disease (OMIM:243600):
Jejunal atresia
JEJUNAL ATRESIA

Associated phenotypes (HPO):
id: HP:0005235
hpo_term: Jejunal atresia
chpo_term: 空肠闭锁
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
Disease (OMIM:619935):
Immunodeficiency 106, susceptibility to viral infections
IMMUNODEFICIENCY 106, SUSCEPTIBILITY TO VIRAL INFECTIONS

Associated phenotypes (HPO):
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0020088
hpo_term: Post-vaccination measles
chpo_term: 接种麻疹减毒活疫苗后感染
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0034310
hpo_term: Post-vaccination yellow fever
chpo_term: 接种疫苗后黄热病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:134430):
Factor VII and factor VIII, combined deficiency of
FACTOR VII AND FACTOR VIII, COMBINED DEFICIENCY OF

Associated phenotypes (HPO):
id: HP:0003125
hpo_term: Reduced factor VIII activity
chpo_term: 凝血因子VIII活性减低
id: HP:0002584
hpo_term: Intestinal bleeding
chpo_term: 肠道出血
id: HP:0008169
hpo_term: Reduced factor VII activity
chpo_term: 凝血因子VII活性减低
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:105835):
ANGEL-SHAPED PHALANGOEPIPHYSEAL DYSPLASIA
Angel-Shaped phalangoepiphyseal dysplasia

Associated phenotypes (HPO):
id: HP:0001187
hpo_term: Hyperextensibility of the finger joints
chpo_term: 指间关节过伸
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003088
hpo_term: Premature osteoarthritis
chpo_term: 早发性关节炎
id: HP:0008843
hpo_term: Hip osteoarthritis
chpo_term: 髋关节骨关节炎
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
id: HP:0009193
hpo_term: Pseudoepiphyses of the metacarpals
chpo_term: 掌骨假骨骺
Disease (OMIM:143860):
HYPERCHLORHIDROSIS, ISOLATED
Hyperchlorhidrosis, isolated

Associated phenotypes (HPO):
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0004906
hpo_term: Hypernatremic dehydration
chpo_term: 高钠脱水
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002902
hpo_term: Hyponatremia
chpo_term: 低钠血症
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0012236
hpo_term: Elevated sweat chloride
chpo_term: 汗液氯化物浓度升高
Disease (OMIM:174000):
TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2
Tubulointerstitial kidney disease, autosomal dominant, 2

Associated phenotypes (HPO):
id: HP:0004732
hpo_term: Impaired renal uric acid clearance
chpo_term: 肾尿酸廓清障碍
id: HP:0003774
hpo_term: Stage 5 chronic kidney disease
chpo_term: 慢性肾病5期
id: HP:0002048
hpo_term: Renal cortical atrophy
chpo_term: 肾皮质萎缩
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0005576
hpo_term: Tubulointerstitial fibrosis
chpo_term: 肾小管间质纤维化
id: HP:0001970
hpo_term: Tubulointerstitial nephritis
chpo_term: 肾小管间质性肾炎
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0003581
hpo_term: Adult onset
chpo_term: 成年期发病
id: HP:0000096
hpo_term: Glomerular sclerosis
chpo_term: 肾小球硬化
id: HP:0005583
hpo_term: Tubular basement membrane disintegration
chpo_term: 肾小管基底膜解体
id: HP:0000092
hpo_term: Renal tubular atrophy
chpo_term: 肾小管萎缩
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0001903
hpo_term: Anemia
chpo_term: 贫血
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002615
hpo_term: Hypotension
chpo_term: 低血压
id: HP:0000108
hpo_term: Renal corticomedullary cysts
chpo_term: 肾皮髓质交界处囊肿
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0003259
hpo_term: Elevated circulating creatinine concentration
chpo_term: 血清肌酐水平升高
id: HP:0001997
hpo_term: Gout
chpo_term: 痛风
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
Disease (OMIM:255710):
MYOTONIA WITH SKELETAL ABNORMALITIES AND MENTAL RETARDATION
Myotonia with skeletal abnormalities and mental retardation

Associated phenotypes (HPO):
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001591
hpo_term: Bell-shaped thorax
chpo_term: 钟形胸
id: HP:0006361
hpo_term: Irregular femoral epiphysis
chpo_term: 股骨骨骺不规则
id: HP:0008422
hpo_term: Vertebral wedging
chpo_term: 椎体楔形变
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003725
hpo_term: Firm muscles
chpo_term: 肌肉坚硬
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
Disease (OMIM:619921):
DYSTONIA 35, CHILDHOOD-ONSET
Dystonia 35, childhood-onset

Associated phenotypes (HPO):
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618381):
FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0000341
hpo_term: Narrow forehead
chpo_term: 额头狭窄
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010803
hpo_term: Everted upper lip vermilion
chpo_term: 上唇唇红外翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002266
hpo_term: Focal clonic seizure
chpo_term: 局灶性阵挛性发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0010862
hpo_term: Delayed fine motor development
chpo_term: 精细动作发育迟缓
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:0000998
hpo_term: Hypertrichosis
chpo_term: 多毛症
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0000297
hpo_term: Facial hypotonia
chpo_term: 面部肌张力低下
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
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:0002194
hpo_term: Delayed gross motor development
chpo_term: 粗大运动发育迟缓
id: HP:0011228
hpo_term: Horizontal eyebrow
chpo_term: 横眉
id: HP:0000609
hpo_term: Optic nerve hypoplasia
chpo_term: 视神经发育不全
id: HP:0100874
hpo_term: Thick hair
chpo_term: 浓发
id: HP:0000527
hpo_term: Long eyelashes
chpo_term: 长睫毛
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000664
hpo_term: Synophrys
chpo_term: 连眉
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
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:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
Disease (OMIM:170500):
Hyperkalemic periodic paralysis
HYPERKALEMIC PERIODIC PARALYSIS

Associated phenotypes (HPO):
id: HP:0003752
hpo_term: Episodic flaccid weakness
chpo_term: 发作性弛缓无力
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0002153
hpo_term: Hyperkalemia
chpo_term: 高钾血症
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:6000833
id: HP:0007215
hpo_term: Periodic hyperkalemic paralysis
chpo_term: 高钾性周期性麻痹
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:614034):
Heme oxygenase-1 deficiency
HEME OXYGENASE 1 DEFICIENCY

Associated phenotypes (HPO):
id: HP:0031956
hpo_term: Elevated circulating aspartate aminotransferase concentration
chpo_term: 血清天冬氨酸转氨酶升高
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0001894
hpo_term: Thrombocytosis
chpo_term: 血小板增多症
id: HP:0030783
hpo_term: Increased circulating interleukin 6 concentration
chpo_term: 循环白细胞介素6水平升高
id: HP:0000790
hpo_term: Hematuria
chpo_term: 血尿
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0025289
hpo_term: Cervical lymphadenopathy
chpo_term: 颈部淋巴结病变
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0025420
hpo_term: Diffuse alveolar hemorrhage
chpo_term: 弥漫性肺泡出血
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0003281
hpo_term: Increased circulating ferritin concentration
chpo_term: 血清铁蛋白升高
id: HP:0031964
hpo_term: Elevated circulating alanine aminotransferase concentration
chpo_term: 血清丙氨酸转氨酶升高
id: HP:0011227
hpo_term: Elevated circulating C-reactive protein concentration
chpo_term: C-反应蛋白水平升高
id: HP:0012375
hpo_term: Chemosis
chpo_term: 球结膜水肿
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002716
hpo_term: Lymphadenopathy
chpo_term: 淋巴结肿大
id: HP:0025435
hpo_term: Increased circulating lactate dehydrogenase concentration
chpo_term: 乳酸脱氢酶活性增高
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000421
hpo_term: Epistaxis
chpo_term: 鼻衄
id: HP:0004844
hpo_term: Coombs-positive hemolytic anemia
chpo_term: Coombs试验阳性溶血性贫血
Disease (OMIM:269200):
AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE II
Autoimmune polyendocrine syndrome, type II

Associated phenotypes (HPO):
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0000585
hpo_term: Band keratopathy
chpo_term: 带状角膜病
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0001096
hpo_term: Keratoconjunctivitis
chpo_term: 角膜结膜炎
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:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0001281
hpo_term: Tetany
chpo_term: 手足抽搐
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0100522
hpo_term: Thymoma
chpo_term: 胸腺瘤
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
id: HP:0033000
hpo_term: Subglottic laryngitis
chpo_term: 声门下喉炎
id: HP:0002728
hpo_term: Chronic mucocutaneous candidiasis
chpo_term: 慢性皮肤粘膜念珠菌病
id: HP:0001746
hpo_term: Asplenia
chpo_term: 无脾
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0001426
hpo_term: Multifactorial inheritance
chpo_term: 多因素遗传
id: HP:0200123
hpo_term: Chronic hepatitis
chpo_term: 慢性肝炎
id: HP:0005978
hpo_term: Type II diabetes mellitus
chpo_term: 2型糖尿病
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0008207
hpo_term: Primary adrenal insufficiency
chpo_term: 原发性肾上腺功能不全
Disease (OMIM:613983):
Retinitis pigmentosa 60
RETINITIS PIGMENTOSA 60

Associated phenotypes (HPO):
id: HP:0001133
hpo_term: Constriction of peripheral visual field
chpo_term: 周边性视野狭窄
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:0011462
hpo_term: Young adult onset
chpo_term: 青年发病
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:0007994
hpo_term: Peripheral visual field loss
chpo_term: 周边视野缺失
id: HP:0000510
hpo_term: Rod-cone dystrophy
chpo_term: 杆锥体营养不良
id: HP:0007787
hpo_term: Posterior subcapsular cataract
chpo_term: 后囊下白内障
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0007722
hpo_term: Retinal pigment epithelial atrophy
chpo_term: 视网膜色素上皮萎缩
id: HP:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
Disease (OMIM:619510):
IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
Immunodeficiency 85 and autoimmunity

Associated phenotypes (HPO):
id: HP:0002850
hpo_term: Decreased circulating total IgM
chpo_term: 循环总IgM下降
id: HP:0005403
hpo_term: T lymphocytopenia
chpo_term: T淋巴细胞减少症
id: HP:0005479
hpo_term: Decreased circulating IgE
chpo_term: 循环IgE水平降低
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0001531
hpo_term: Failure to thrive in infancy
chpo_term: 婴儿期生长障碍
id: HP:0020072
hpo_term: Persistent EBV viremia
chpo_term: 持续性EBV病毒血症
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0030374
hpo_term: Decreased proportion of memory B cells
chpo_term: 记忆性B细胞比例减低
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0033454
hpo_term: Tube feeding
chpo_term: 管饲
id: HP:0032218
hpo_term: Decreased proportion of CD4-positive T cells
chpo_term: CD4+T细胞比例减低
id: HP:0040313
hpo_term: Oligoarthritis
chpo_term: 寡关节炎
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0000964
hpo_term: Eczema
chpo_term: 湿疹
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
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:0002206
hpo_term: Pulmonary fibrosis
chpo_term: 肺纤维化
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002720
hpo_term: Decreased circulating IgA level
chpo_term: 循环IgA下降
id: HP:0002028
hpo_term: Chronic diarrhea
chpo_term: 慢性腹泻
id: HP:0004315
hpo_term: Decreased circulating IgG level
chpo_term: 循环IgG水平降低
id: HP:0040218
hpo_term: Reduced natural killer cell count
chpo_term: 自然杀伤细胞数量减少
Disease (OMIM:224300):
DYSOSTEOSCLEROSIS

Associated phenotypes (HPO):
id: HP:0000242
hpo_term: Parietal bossing
chpo_term: 顶骨隆起
id: HP:0001474
hpo_term: Sclerotic scapulae
chpo_term: 肩胛骨硬化
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0001476
hpo_term: Delayed closure of the anterior fontanelle
chpo_term: 前囟闭合延迟
id: HP:0006429
hpo_term: Broad femoral neck
chpo_term: 股骨颈变宽
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0100923
hpo_term: Clavicular sclerosis
chpo_term: 锁骨硬化
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0011220
hpo_term: Prominent forehead
chpo_term: 前额中央突出
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0008479
hpo_term: Hypoplastic vertebral bodies
chpo_term: 椎体发育不良
id: HP:0000879
hpo_term: Short sternum
chpo_term: 短胸骨
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0006897
hpo_term: Abducens palsy
chpo_term: 外展神经麻痹
id: HP:0000773
hpo_term: Short ribs
chpo_term: 短肋
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0007209
hpo_term: Facial paralysis
chpo_term: 面瘫
id: HP:0000695
hpo_term: Natal tooth
chpo_term: 胎生牙齿
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0002694
hpo_term: Sclerosis of skull base
chpo_term: 颅底硬化
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0005089
hpo_term: Abnormal metaphyseal trabeculation
chpo_term: 干骺端小梁异常
id: HP:0030320
hpo_term: Increased intervertebral space
chpo_term: 椎间隙增宽
id: HP:0004054
hpo_term: Sclerosis of hand bone
chpo_term: 手骨硬化症
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0006383
hpo_term: Progressive bowing of long bones
chpo_term: 长骨进行性弯曲
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
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:0002868
hpo_term: Narrow iliac wing
chpo_term: 髂骨翼狭窄
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002689
hpo_term: Absent paranasal sinuses
chpo_term: 副鼻窦缺如
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000941
hpo_term: Short diaphyses
chpo_term: 短骨干
id: HP:0002688
hpo_term: Absent frontal sinuses
chpo_term: 额窦缺如
id: HP:0000885
hpo_term: Broad ribs
chpo_term: 宽肋骨
id: HP:0005019
hpo_term: Diaphyseal thickening
chpo_term: 骨干增粗
Disease (OMIM:618168):
Diarrhea 9
DIARRHEA 9

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:272620):
Tardive dyskinesia
TARDIVE DYSKINESIA

Associated phenotypes (HPO):
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0040141
hpo_term: Tardive dyskinesia
chpo_term: 迟发性运动障碍
id: HP:0031943
hpo_term: Akathisia
chpo_term: 静坐不能
Disease (OMIM:616145):
Catel-Manzke syndrome
CATEL-MANZKE SYNDROME

Associated phenotypes (HPO):
id: HP:0001651
hpo_term: Dextrocardia
chpo_term: 右位心
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0001373
hpo_term: Joint dislocation
chpo_term: 关节脱位
id: HP:0000162
hpo_term: Glossoptosis
chpo_term: 舌后坠
id: HP:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0010763
hpo_term: Low insertion of columella
chpo_term: 鼻小柱低插入
id: HP:0045074
hpo_term: Thin eyebrow
chpo_term: 细眉
id: HP:0009464
hpo_term: Ulnar deviation of the 2nd finger
chpo_term: 第二指向尺侧偏斜
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000954
hpo_term: Single transverse palmar crease
chpo_term: 单独掌横纹
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0000476
hpo_term: Cystic hygroma
chpo_term: 囊状水瘤
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001181
hpo_term: Adducted thumb
chpo_term: 拇指内收
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0009933
hpo_term: Narrow naris
chpo_term: 鼻孔狭窄
id: HP:0002623
hpo_term: Overriding aorta
chpo_term: 主动脉骑跨
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000204
hpo_term: Cleft upper lip
chpo_term: 上唇裂
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
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:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000460
hpo_term: Narrow nose
chpo_term: 鼻缩窄
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0005792
hpo_term: Short humerus
chpo_term: 肱骨短
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000579
hpo_term: Nasolacrimal duct obstruction
chpo_term: 鼻泪管阻塞
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0030368
hpo_term: Hyperphalangy of the 2nd finger
chpo_term: 第二指多指节
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0000193
hpo_term: Bifid uvula
chpo_term: 悬雍垂裂
id: HP:0001680
hpo_term: Coarctation of aorta
chpo_term: 主动脉缩窄
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
Disease (OMIM:220600):
SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE
Split-Hand/foot malformation 1 with sensorineural hearing loss

Associated phenotypes (HPO):
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出