TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:404443):
DNMT3A-related overgrowth syndrome
Tatton-Brown-Rahman overgrowth syndrome
Tatton-Brown-Rahman syndrome

Associated phenotypes (HPO):
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0011407
hpo_term: Proportionate tall stature
chpo_term: 成比例高身材
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001566
hpo_term: Widely-spaced maxillary central incisors
chpo_term: 上颌中切牙牙间隙增宽
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002308
hpo_term: Chiari malformation
chpo_term: 小脑扁桃体下疝畸形
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0008094
hpo_term: Widely spaced toes
chpo_term: 趾间距宽
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0100753
hpo_term: Schizophrenia
chpo_term: 精神分裂症
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001653
hpo_term: Mitral regurgitation
chpo_term: 二尖瓣反流
id: HP:0002000
hpo_term: Short columella
chpo_term: 鼻小柱短小
id: HP:0002002
hpo_term: Deep philtrum
chpo_term: 深人中沟
id: HP:0002616
hpo_term: Aortic root aneurysm
chpo_term: 主动脉根部瘤
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0005180
hpo_term: Tricuspid regurgitation
chpo_term: 三尖瓣反流
id: HP:0007302
hpo_term: Bipolar affective disorder
chpo_term: 双相情感障碍
id: HP:0011688
hpo_term: Supraventricular tachycardia with an accessory connection mediated pathway
chpo_term: 室上性心动过速伴旁路连接
id: HP:0012324
hpo_term: Myeloid leukemia
chpo_term: 髓系白血病
id: HP:0100634
hpo_term: Neuroendocrine neoplasm
chpo_term: 神经内分泌肿瘤
Disease (ORPHA:56305):
AOIII
Atelosteogenesis type 3
AO3
Atelosteogenesis type III

Associated phenotypes (HPO):
id: HP:0001248
hpo_term: Short tubular bones of the hand
chpo_term: 手管状骨缩短
id: HP:0001762
hpo_term: Talipes equinovarus
chpo_term: 马蹄内翻足
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002827
hpo_term: Hip dislocation
chpo_term: 髋关节脱位
id: HP:0002999
hpo_term: Patellar dislocation
chpo_term: 髌骨脱位
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0031095
hpo_term: Abnormal humerus morphology
chpo_term: 肱骨形态异常
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0004976
hpo_term: Knee dislocation
chpo_term: 膝关节脱位
id: HP:0006408
hpo_term: Distal tapering femur
chpo_term: 股骨远端逐渐变细
id: HP:0008417
hpo_term: Vertebral hypoplasia
chpo_term: 椎体发育不全
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0001188
hpo_term: Hand clenching
chpo_term: 攥拳手
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0002990
hpo_term: Fibular aplasia
chpo_term: 腓骨发育不良
id: HP:0003049
hpo_term: Ulnar deviation of the wrist
chpo_term: 手腕向尺侧偏斜
id: HP:0003862
hpo_term: Absent humerus
chpo_term: 肱骨缺如
id: HP:0003902
hpo_term: Epiphyseal stippling of the humerus
chpo_term: 肱骨骨骺斑点化
id: HP:0003974
hpo_term: Absent radius
chpo_term: 桡骨缺如
id: HP:0005257
hpo_term: Thoracic hypoplasia
chpo_term: 胸廓发育不全
id: HP:0005619
hpo_term: Thoracolumbar kyphosis
chpo_term: 胸腰部脊柱后凸
id: HP:0005736
hpo_term: Short tibia
chpo_term: 短胫骨
id: HP:0005905
hpo_term: Abnormal cervical curvature
chpo_term: 颈椎曲度异常
id: HP:0006384
hpo_term: Club-shaped distal femur
chpo_term: 棒状股骨远端
id: HP:0008755
hpo_term: Laryngotracheomalacia
chpo_term: 喉气管软化
Disease (ORPHA:454718):
Adie syndrome
Tonic pupil-tendon areflexia syndrome
Holmes-Adie syndrome

Associated phenotypes (HPO):
id: HP:0012074
hpo_term: Tonic pupil
chpo_term: 瞳孔强直
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0001284
hpo_term: Areflexia
chpo_term: 神经反射消失
id: HP:0007695
hpo_term: Abnormal pupillary light reflex
chpo_term: 瞳孔对光反射异常
id: HP:0009916
hpo_term: Anisocoria
chpo_term: 瞳孔不等
id: HP:0011499
hpo_term: Mydriasis
chpo_term: 瞳孔散大
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0001278
hpo_term: Orthostatic hypotension
chpo_term: 体位性低血压
id: HP:0012803
hpo_term: Anisometropia
chpo_term: 屈光参差
id: HP:0034315
hpo_term: Chronic cough
chpo_term: 慢性咳嗽
Disease (ORPHA:412066):
PRKAR1B-related neurodegenerative dementia with intermediate filaments

Associated phenotypes (HPO):
id: HP:0000726
hpo_term: Dementia
chpo_term: 痴呆
id: HP:0000719
hpo_term: Inappropriate behavior
chpo_term: 不适宜行为
id: HP:0002145
hpo_term: Frontotemporal dementia
chpo_term: 额颞叶痴呆
id: HP:0002333
hpo_term: Motor deterioration
chpo_term: 运动功能减退
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0012757
hpo_term: Abnormal neuron morphology
chpo_term: 神经元形态异常
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0000739
hpo_term: Anxiety
chpo_term: 焦虑
id: HP:0000741
hpo_term: Apathy
chpo_term: 情感淡漠
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002067
hpo_term: Bradykinesia
chpo_term: 运动迟缓
id: HP:0002172
hpo_term: Postural instability
chpo_term: 姿势不稳
id: HP:0002362
hpo_term: Shuffling gait
chpo_term: 曳行步态
id: HP:0002463
hpo_term: Language impairment
chpo_term: 语言障碍
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0002527
hpo_term: Falls
chpo_term: 跌倒
id: HP:0003552
hpo_term: Muscle stiffness
chpo_term: 肌肉僵硬
id: HP:0007311
hpo_term: Short stepped shuffling gait
chpo_term: 小碎步步态
id: HP:0010794
hpo_term: Impaired visuospatial constructive cognition
chpo_term: 视空间结构认知障碍
id: HP:0030216
hpo_term: Inertia
chpo_term: 惰性
id: HP:0006892
hpo_term: Frontotemporal cerebral atrophy
chpo_term: 额颞叶萎缩
id: HP:0002503
hpo_term: Spinocerebellar tract degeneration
chpo_term: 脊髓小脑束变性
id: HP:0007373
hpo_term: Motor neuron atrophy
chpo_term: 运动神经元萎缩
Disease (ORPHA:412069):
Xia-Gibbs syndrome
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

Associated phenotypes (HPO):
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
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:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
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:0001273
hpo_term: Abnormal corpus callosum morphology
chpo_term: 胼胝体形态异常
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0002474
hpo_term: Expressive language delay
chpo_term: 语言表达延迟
id: HP:0002781
hpo_term: Upper airway obstruction
chpo_term: 上气道阻塞
id: HP:0002870
hpo_term: Obstructive sleep apnea
chpo_term: 阻塞性睡眠呼吸暂停
id: HP:0011477
hpo_term: Upbeat nystagmus
chpo_term: 上跳性眼球震颤
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012443
hpo_term: Abnormality of brain morphology
chpo_term: 脑形态学异常
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0000385
hpo_term: Small earlobe
chpo_term: 小耳垂
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000490
hpo_term: Deeply set eye
chpo_term: 眼睛深陷
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000565
hpo_term: Esotropia
chpo_term: 内斜视
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0001363
hpo_term: Craniosynostosis
chpo_term: 颅缝早闭
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002779
hpo_term: Tracheomalacia
chpo_term: 气管软化
id: HP:0004887
hpo_term: Respiratory failure requiring assisted ventilation
chpo_term: 呼吸衰竭，需要辅助通气
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006951
hpo_term: Retrocerebellar cyst
chpo_term: Retrocerebellar囊肿
id: HP:0009909
hpo_term: Uplifted earlobe
chpo_term: 耳垂方向异常
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0025267
hpo_term: Snoring
chpo_term: 打鼾
id: HP:0025573
hpo_term: Mild myopia
chpo_term: 轻度近视
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
Disease (ORPHA:1873):
Cone rod dystrophy-amelogenesis imperfecta syndrome
Jalili syndrome

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000682
hpo_term: Abnormal dental enamel morphology
chpo_term: 牙釉质形态异常
id: HP:0000705
hpo_term: Amelogenesis imperfecta
chpo_term: 牙釉质生长不全
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0011073
hpo_term: Abnormality of dental color
chpo_term: 牙齿颜色异常
Disease (ORPHA:1872):
Cone rod dystrophy

Associated phenotypes (HPO):
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0000529
hpo_term: Progressive visual loss
chpo_term: 进行性视力下降
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000603
hpo_term: Central scotoma
chpo_term: 中心暗点
id: HP:0001105
hpo_term: Retinal atrophy
chpo_term: 视网膜萎缩
id: HP:0007641
hpo_term: Dyschromatopsia
chpo_term: 色觉障碍
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:0007843
hpo_term: Attenuation of retinal blood vessels
chpo_term: 视网膜血管减少
id: HP:0030466
hpo_term: Abnormal full-field electroretinogram
chpo_term: 全视野视网膜电图异常
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0012508
hpo_term: Metamorphopsia
chpo_term: 视物变形
Disease (ORPHA:1871):
Cone dystrophy
Progressive cone dystrophy

Associated phenotypes (HPO):
id: HP:0000505
hpo_term: Visual impairment
chpo_term: 视觉障碍
id: HP:0000512
hpo_term: Abnormal electroretinogram
chpo_term: 视网膜电图异常
id: HP:0000551
hpo_term: Color vision defect
chpo_term: 色觉缺陷
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
Disease (ORPHA:1879):
Melorheostosis with osteopoikilosis
Mixed sclerosing bone dystrophy
MSBD syndrome

Associated phenotypes (HPO):
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0001012
hpo_term: Multiple lipomas
chpo_term: 多发性脂肪瘤
id: HP:0001482
hpo_term: Subcutaneous nodule
chpo_term: 皮下结节
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0010001
hpo_term: Complete duplication of the distal phalanges of the hand
chpo_term: 末节指骨完全重复
id: HP:0010739
hpo_term: Osteopoikilosis
chpo_term: 骨斑点症
Disease (ORPHA:1878):
Limb-girdle muscular dystrophy due to TRIM32 deficiency
LGMD type 2H
Sarcotubular myopathy
LGMD due to TRIM32 deficiency
TRIM32-related LGMD R8
Limb-girdle muscular dystrophy type 2H
LGMD2H
Autosomal recessive limb-girdle muscular dystrophy type 2H
TRIM32-related limb-girdle muscular dystrophy R8

Associated phenotypes (HPO):
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0003457
hpo_term: EMG abnormality
chpo_term: 肌电图异常
id: HP:0003557
hpo_term: Increased variability in muscle fiber diameter
chpo_term: 肌纤维直径变异性增大
id: HP:0008994
hpo_term: Proximal muscle weakness in lower limbs
chpo_term: 下肢近端肌无力
Disease (ORPHA:1876):
Oculogastrointestinal muscular dystrophy
Visceral myopathy-familial external ophthalmoplegia syndrome

Associated phenotypes (HPO):
id: HP:0001633
hpo_term: Abnormal mitral valve morphology
chpo_term: 二尖瓣形态异常
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002578
hpo_term: Gastroparesis
chpo_term: 胃轻瘫
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0004389
hpo_term: Intestinal pseudo-obstruction
chpo_term: 假性肠梗阻
id: HP:0011024
hpo_term: Abnormality of the gastrointestinal tract
chpo_term: 胃肠道异常
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000544
hpo_term: External ophthalmoplegia
chpo_term: 眼外肌麻痹
id: HP:0004295
hpo_term: Abnormal gastric mucosa morphology
chpo_term: 胃黏膜形态异常
id: HP:0005203
hpo_term: Spontaneous esophageal perforation
chpo_term: 自发性食管穿孔
Disease (ORPHA:1875):
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Bassoe syndrome

Associated phenotypes (HPO):
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0000137
hpo_term: Abnormality of the ovary
chpo_term: 卵巢异常
id: HP:0000298
hpo_term: Mask-like facies
chpo_term: 面具样面容
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0003560
hpo_term: Muscular dystrophy
chpo_term: 肌营养不良
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
Disease (ORPHA:404451):
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001159
hpo_term: Syndactyly
chpo_term: 并指（趾）畸形
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:0001285
hpo_term: Spastic tetraparesis
chpo_term: 痉挛性四肢瘫
id: HP:0001332
hpo_term: Dystonia
chpo_term: 肌张力障碍
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002200
hpo_term: Pseudobulbar signs
chpo_term: 假性球麻痹症状
id: HP:0002307
hpo_term: Drooling
chpo_term: 流涎
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0003396
hpo_term: Syringomyelia
chpo_term: 脊髓空洞症
id: HP:0007030
hpo_term: Nonprogressive encephalopathy
chpo_term: 非进行性脑病
id: HP:0008780
hpo_term: Congenital bilateral hip dislocation
chpo_term: 先天性双侧髋关节脱位
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0031936
hpo_term: Delayed ability to walk
chpo_term: 学步晚
Disease (ORPHA:309031):
Pancreatic triglyceride lipase deficiency
Pancreatic triacylglycerol lipase deficiency

Associated phenotypes (HPO):
id: HP:0001738
hpo_term: Exocrine pancreatic insufficiency
chpo_term: 胰腺外分泌功能不全
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002570
hpo_term: Steatorrhea
chpo_term: 脂肪泻
id: HP:0003270
hpo_term: Abdominal distention
chpo_term: 腹胀
id: HP:0004905
hpo_term: Low levels of vitamin A
chpo_term: 维生素A缺乏症
id: HP:0011892
hpo_term: Low levels of vitamin K
chpo_term: 维生素K缺乏症
id: HP:0012378
hpo_term: Fatigue
chpo_term: 疲乏
id: HP:0100512
hpo_term: Low levels of vitamin D
chpo_term: 维生素D缺乏症
id: HP:0100513
hpo_term: Low levels of vitamin E
chpo_term: 维生素E缺乏症
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001097
hpo_term: Keratoconjunctivitis sicca
chpo_term: 干燥性角结膜炎
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001891
hpo_term: Iron deficiency anemia
chpo_term: 缺铁性贫血
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002748
hpo_term: Rickets
chpo_term: 佝偻病
id: HP:0002749
hpo_term: Osteomalacia
chpo_term: 软骨病。
id: HP:0012047
hpo_term: Hemeralopia
chpo_term: 昼盲
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0002583
hpo_term: Colitis
chpo_term: 结肠炎
Disease (ORPHA:1861):
Thoracic dysplasia-hydrocephalus syndrome

Associated phenotypes (HPO):
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000457
hpo_term: Depressed nasal ridge
chpo_term: 鼻嵴凹陷
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
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: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:0001334
hpo_term: Communicating hydrocephalus
chpo_term: 交通性脑积水
id: HP:0002878
hpo_term: Respiratory failure
chpo_term: 呼吸衰竭
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009826
hpo_term: Limb undergrowth
chpo_term: 肢体发育不良
Disease (ORPHA:1860):
Thanatophoric dwarfism type 1
TD1
Thanatophoric dysplasia type 1

Associated phenotypes (HPO):
id: HP:0000077
hpo_term: Abnormality of the kidney
chpo_term: 肾脏异常
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
id: HP:0000946
hpo_term: Hypoplastic ilia
chpo_term: 髂骨发育不全
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001582
hpo_term: Redundant skin
chpo_term: 赘肉
id: HP:0001631
hpo_term: Atrial septal defect
chpo_term: 房间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002187
hpo_term: Intellectual disability, profound
chpo_term: 极重度智力障碍
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0002676
hpo_term: Cloverleaf skull
chpo_term: 分叶状颅
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0002980
hpo_term: Femoral bowing
chpo_term: 股骨弯曲
id: HP:0002983
hpo_term: Micromelia
chpo_term: 短肢
id: HP:0003097
hpo_term: Short femur
chpo_term: 短股骨
id: HP:0003185
hpo_term: Short greater sciatic notch
chpo_term: 骶髂切迹小
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0006703
hpo_term: Aplasia/Hypoplasia of the lungs
chpo_term: 肺发育缺陷/不全
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0008909
hpo_term: Lethal short-limbed short stature
chpo_term: 致死性短肢型矮小
id: HP:0010880
hpo_term: Increased nuchal translucency
chpo_term: 颈部透明层厚度增加
id: HP:0012368
hpo_term: Flat face
chpo_term: 扁平脸
id: HP:0100781
hpo_term: Abnormal sacroiliac joint morphology
chpo_term: 骶髂关节形态异常
Disease (ORPHA:1867):
Hereditary bullous dystrophy, macular type

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000953
hpo_term: Hyperpigmentation of the skin
chpo_term: 皮肤色素沉着
id: HP:0001063
hpo_term: Acrocyanosis
chpo_term: 手足发绀
id: HP:0001182
hpo_term: Tapered finger
chpo_term: 锥形指
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0005590
hpo_term: Spotty hypopigmentation
chpo_term: 点滴状色素减退
id: HP:0007957
hpo_term: Corneal opacity
chpo_term: 角膜混浊
id: HP:0008066
hpo_term: Abnormal blistering of the skin
chpo_term: 皮肤的异常起疱
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0009381
hpo_term: Short finger
chpo_term: 短指畸形
id: HP:0011361
hpo_term: Congenital abnormal hair pattern
chpo_term: 先天性毛发分布异常
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000262
hpo_term: Turricephaly
chpo_term: 尖头畸形
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0003241
hpo_term: External genital hypoplasia
chpo_term: 外生殖器发育不良
id: HP:0008734
hpo_term: Decreased testicular size
chpo_term: 睾丸体积过小
id: HP:0030148
hpo_term: Heart murmur
chpo_term: 心脏杂音
id: HP:0500262
hpo_term: Atrichia
chpo_term: 无毛症