TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:93314):
Spondylometaphyseal dysplasia, Kozlowski type

Associated phenotypes (HPO):
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
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:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001248
hpo_term: Short tubular bones of the hand
chpo_term: 手管状骨缩短
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001498
hpo_term: Carpal bone hypoplasia
chpo_term: 腕骨骨发育不全
id: HP:0001831
hpo_term: Short toe
chpo_term: 短趾
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002867
hpo_term: Abnormal ilium morphology
chpo_term: 髂骨形态异常
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003088
hpo_term: Premature osteoarthritis
chpo_term: 早发性关节炎
id: HP:0003170
hpo_term: Abnormal acetabulum morphology
chpo_term: 髋臼形态异常
id: HP:0003177
hpo_term: Squared iliac bones
chpo_term: 方形髂骨
id: HP:0003336
hpo_term: Abnormal enchondral ossification
chpo_term: 软骨内骨化异常
id: HP:0003510
hpo_term: Severe short stature
chpo_term: 严重的身材矮小
id: HP:0005819
hpo_term: Short middle phalanx of finger
chpo_term: 中节指骨短
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
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:0002938
hpo_term: Lumbar hyperlordosis
chpo_term: 腰椎前凸过度
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0002986
hpo_term: Radial bowing
chpo_term: 桡骨弯曲
id: HP:0003059
hpo_term: Abnormality of the radioulnar joints
chpo_term: 桡尺关节异常
id: HP:0003121
hpo_term: Limb joint contracture
chpo_term: 肢体关节挛缩
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0003185
hpo_term: Short greater sciatic notch
chpo_term: 骶髂切迹小
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0003417
hpo_term: Coronal cleft vertebrae
chpo_term: 冠状位脊柱裂
id: HP:0003907
hpo_term: Abnormal humeral metaphysis morphology
chpo_term: 肱骨干骺端形态异常
id: HP:0004558
hpo_term: Cervical platyspondyly
chpo_term: 扁平颈椎
id: HP:0008422
hpo_term: Vertebral wedging
chpo_term: 椎体楔形变
id: HP:0010228
hpo_term: Absent epiphyses of the phalanges of the hand
chpo_term: 指骨骨骺缺如
id: HP:0030289
hpo_term: Flattened femoral epiphysis
chpo_term: 扁平股骨骨骺
id: HP:0030320
hpo_term: Increased intervertebral space
chpo_term: 椎间隙增宽
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
Disease (ORPHA:93311):
Multiple epiphyseal dysplasia type 5
Polyepiphyseal dysplasia type 5
Bilateral hereditary micro-epiphyseal dysplasia
EDM5
BHMED
MED5

Associated phenotypes (HPO):
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0008828
hpo_term: Delayed proximal femoral epiphyseal ossification
chpo_term: 股骨近端骨骺骨化延迟
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001384
hpo_term: Abnormal hip joint morphology
chpo_term: 髋关节形态异常
id: HP:0002857
hpo_term: Genu valgum
chpo_term: 膝外翻
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003088
hpo_term: Premature osteoarthritis
chpo_term: 早发性关节炎
id: HP:0003502
hpo_term: Mild short stature
chpo_term: 轻度身材矮小
id: HP:0003839
hpo_term: Abnormality of upper limb epiphysis morphology
chpo_term: 上肢骨骺形态异常
id: HP:0010631
hpo_term: Abnormality of the epiphyses of the feet
chpo_term: 足骨骺异常
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0003170
hpo_term: Abnormal acetabulum morphology
chpo_term: 髋臼形态异常
id: HP:0003184
hpo_term: Decreased hip abduction
chpo_term: 髋关节外展减小
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0004268
hpo_term: Osteoarthritis of the small joints of the hand
chpo_term: 手的小关节的骨关节炎
id: HP:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0005877
hpo_term: Multiple small vertebral fractures
chpo_term: 多发性小椎体骨折
id: HP:0008419
hpo_term: Intervertebral disc degeneration
chpo_term: 椎间盘退行性变
id: HP:0008800
hpo_term: Limited hip movement
chpo_term: 髋部运动受限
id: HP:0030840
hpo_term: Ankle pain
chpo_term: 脚踝痛
id: HP:0003418
hpo_term: Back pain
chpo_term: 背部疼痛
Disease (ORPHA:100973):
Intellectual disability associated with fragile site FRAXE
FRAXE intellectual disability

Associated phenotypes (HPO):
id: HP:0000713
hpo_term: Agitation
chpo_term: 焦虑不安
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001609
hpo_term: Hoarse voice
chpo_term: 声音嘶哑
id: HP:0002312
hpo_term: Clumsiness
chpo_term: 笨拙
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009904
hpo_term: Prominent ear helix
chpo_term: 耳轮突出
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0100023
hpo_term: Recurrent hand flapping
chpo_term: 反复用手拍打
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0012172
hpo_term: Stereotypical body rocking
chpo_term: 刻板性身体摇摆
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
Disease (ORPHA:67041):
MPS9
Hyaluronidase deficiency
Mucopolysaccharidosis type IX
Mucopolysaccharidosis type 9
MPSIX

Associated phenotypes (HPO):
id: HP:0003170
hpo_term: Abnormal acetabulum morphology
chpo_term: 髋臼形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
Disease (ORPHA:90280):
Chilblain lupus

Associated phenotypes (HPO):
id: HP:0000962
hpo_term: Hyperkeratosis
chpo_term: 角化过度
id: HP:0000965
hpo_term: Cutis marmorata
chpo_term: 大理石样皮肤
id: HP:0000988
hpo_term: Skin rash
chpo_term: 皮疹
id: HP:0002923
hpo_term: Rheumatoid factor positive
chpo_term: 类风湿因子阳性
id: HP:0010702
hpo_term: Increased circulating antibody level
chpo_term: 循环抗体水平升高
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0025131
hpo_term: Finger swelling
chpo_term: 手指肿胀
id: HP:0025300
hpo_term: Malar rash
chpo_term: 颧部皮疹
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0030880
hpo_term: Raynaud phenomenon
chpo_term: 雷诺现象
id: HP:0030899
hpo_term: Pruritis on hand
chpo_term: 手部瘙痒
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0002099
hpo_term: Asthma
chpo_term: 哮喘
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0003493
hpo_term: Antinuclear antibody positivity
chpo_term: 抗核抗体阳性
id: HP:0003613
hpo_term: Antiphospholipid antibody positivity
chpo_term: 抗磷脂抗体阳性
id: HP:0007417
hpo_term: Discoid lupus rash
chpo_term: 盘状红斑狼疮
id: HP:0012325
hpo_term: Chronic myelomonocytic leukemia
chpo_term: 慢性粒单核细胞白血病
Disease (ORPHA:90281):
Discoid lupus erythematosus

Associated phenotypes (HPO):
id: HP:0001010
hpo_term: Hypopigmentation of the skin
chpo_term: 皮肤色素减退
id: HP:0001075
hpo_term: Atrophic scars
chpo_term: 萎缩性瘢痕
id: HP:0004552
hpo_term: Scarring alopecia of scalp
chpo_term: 头皮瘢痕性脱发
id: HP:0007502
hpo_term: Follicular hyperkeratosis
chpo_term: 克尔里病，贯穿性角化过度病
id: HP:0025474
hpo_term: Erythematous plaque
chpo_term: 红斑
id: HP:0030350
hpo_term: Erythematous papule
chpo_term: 红色丘疹
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:4000107
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0006739
hpo_term: Squamous cell carcinoma of the skin
chpo_term: 皮肤鳞状上皮细胞癌
Disease (ORPHA:67043):
Amoebic keratitis

Associated phenotypes (HPO):
id: HP:0000481
hpo_term: Abnormal cornea morphology
chpo_term: 角膜形态异常
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0007856
hpo_term: Punctate opacification of the cornea
chpo_term: 角膜的点状混浊
id: HP:0011495
hpo_term: Abnormal corneal epithelium morphology
chpo_term: 角膜上皮形态异常
id: HP:0200026
hpo_term: Ocular pain
chpo_term: 眼痛
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0001089
hpo_term: Iris atrophy
chpo_term: 虹膜萎缩
id: HP:0004329
hpo_term: Abnormal posterior eye segment morphology
chpo_term: 眼后段形态异常
id: HP:0012122
hpo_term: Anterior uveitis
chpo_term: 前葡萄膜炎
id: HP:0012155
hpo_term: Decreased corneal sensation
chpo_term: 角膜感觉减退
id: HP:0100532
hpo_term: Scleritis
chpo_term: 巩膜炎
id: HP:0100583
hpo_term: Corneal perforation
chpo_term: 角膜穿孔
id: HP:0000593
hpo_term: Abnormal anterior chamber morphology
chpo_term: 前房形态异常
id: HP:0012040
hpo_term: Corneal stromal edema
chpo_term: 角膜基质水肿
id: HP:0012804
hpo_term: Corneal ulceration
chpo_term: 角膜溃疡
Disease (ORPHA:67042):
LORD
Autosomal dominant late-onset retinal degeneration
Late-onset retinal degeneration

Associated phenotypes (HPO):
id: HP:0030534
hpo_term: Abnormal best corrected visual acuity test
chpo_term: 最佳矫正视力测试异常
id: HP:0000533
hpo_term: Chorioretinal atrophy
chpo_term: 脉络膜视网膜萎缩
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000608
hpo_term: Macular degeneration
chpo_term: 黄斑变性
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0001141
hpo_term: Severely reduced visual acuity
chpo_term: 视力严重下降
id: HP:0007791
hpo_term: Patchy atrophy of the retinal pigment epithelium
chpo_term: 视网膜色素上皮斑状萎缩
id: HP:0011506
hpo_term: Choroidal neovascularization
chpo_term: 脉络膜新生血管
id: HP:0011510
hpo_term: Drusen
chpo_term: 玻璃膜疣
id: HP:0031530
hpo_term: Multifocal subretinal deposits
chpo_term: 多灶性视网膜下沉积物
id: HP:0000552
hpo_term: Tritanomaly
chpo_term: 蓝色弱
id: HP:0000613
hpo_term: Photophobia
chpo_term: 畏光
id: HP:0000642
hpo_term: Red-green dyschromatopsia
chpo_term: 红绿色觉障碍
id: HP:0001089
hpo_term: Iris atrophy
chpo_term: 虹膜萎缩
id: HP:0001099
hpo_term: Fundus atrophy
chpo_term: 眼底萎缩
id: HP:0004328
hpo_term: Abnormal anterior eye segment morphology
chpo_term: 眼前段形态异常
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
id: HP:0012628
hpo_term: Abnormal suspensory ligament of lens morphology
chpo_term: 晶状体悬韧带形态异常
id: HP:0012805
hpo_term: Iris transillumination defect
chpo_term: 虹膜透光缺陷
id: HP:0500087
hpo_term: Peripapillary atrophy
chpo_term: 视乳头周围萎缩
id: HP:0007906
hpo_term: Ocular hypertension
chpo_term: 眼压升高
id: HP:0100014
hpo_term: Epiretinal membrane
chpo_term: 视网膜前膜
Disease (ORPHA:163649):
Spondyloepiphyseal dysplasia, Nishimura type
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000260
hpo_term: Wide anterior fontanel
chpo_term: 前囟增宽
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001238
hpo_term: Slender finger
chpo_term: 手指细长
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0002693
hpo_term: Abnormality of the skull base
chpo_term: 颅底异常
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0003071
hpo_term: Flattened epiphysis
chpo_term: 扁平骨骺
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0003196
hpo_term: Short nose
chpo_term: 短鼻
id: HP:0003300
hpo_term: Ovoid vertebral bodies
chpo_term: 卵形椎体
id: HP:0003366
hpo_term: Abnormal femoral neck/head morphology
chpo_term: 股骨颈/头形态异常
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006454
hpo_term: Delayed patellar ossification
chpo_term: 髌骨骨化延迟
id: HP:0008783
hpo_term: Wide proximal femoral metaphysis
chpo_term: 股骨近端干骺端增宽
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0011326
hpo_term: Anterior plagiocephaly
chpo_term: 前斜头畸形
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0007894
hpo_term: Hypopigmentation of the fundus
chpo_term: 眼底的色素沉着不足
id: HP:0011329
hpo_term: Abnormality of cranial sutures
chpo_term: 颅缝异常
id: HP:0100558
hpo_term: Hemiatrophy of upper limb
chpo_term: 上肢偏侧萎缩
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000541
hpo_term: Retinal detachment
chpo_term: 视网膜脱离
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0002879
hpo_term: Anisospondyly
chpo_term: 椎体大小不等
id: HP:0009811
hpo_term: Abnormality of the elbow
chpo_term: 肘部异常
id: HP:0010471
hpo_term: Oligosacchariduria
chpo_term: 寡糖尿症
Disease (ORPHA:439167):
Placental insufficiency
Uteroplacental vascular insufficiency

Associated phenotypes (HPO):
id: HP:0100767
hpo_term: Abnormal placenta morphology
chpo_term: 胎盘异常
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0003508
hpo_term: Proportionate short stature
chpo_term: 成比例身材矮小
id: HP:0006266
hpo_term: Small placenta
chpo_term: 小胎盘
id: HP:0011403
hpo_term: Abnormal umbilical cord blood vessel morphology
chpo_term: 脐带血管形态异常
id: HP:0012418
hpo_term: Hypoxemia
chpo_term: 低氧血症
id: HP:0000717
hpo_term: Autism
chpo_term: 孤独症
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0002725
hpo_term: Systemic lupus erythematosus
chpo_term: 系统性红斑狼疮
id: HP:0003613
hpo_term: Antiphospholipid antibody positivity
chpo_term: 抗磷脂抗体阳性
id: HP:0012759
hpo_term: Neurodevelopmental abnormality
chpo_term: 神经发育异常
id: HP:0000855
hpo_term: Insulin resistance
chpo_term: 胰岛素抵抗
id: HP:0001627
hpo_term: Abnormal heart morphology
chpo_term: 心脏形态异常
id: HP:0002088
hpo_term: Abnormal lung morphology
chpo_term: 肺部形态异常
id: HP:0005268
hpo_term: Miscarriage
chpo_term: 流产
id: HP:0008071
hpo_term: Maternal hypertension
chpo_term: 妊娠期高血压疾病
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0100601
hpo_term: Eclampsia
chpo_term: 子痫
id: HP:0100602
hpo_term: Preeclampsia
chpo_term: 先兆子痫
Disease (ORPHA:363523):
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Shaheen syndrome

Associated phenotypes (HPO):
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001954
hpo_term: Recurrent fever
chpo_term: 阵发性发热
id: HP:0002205
hpo_term: Recurrent respiratory infections
chpo_term: 反复呼吸道感染
id: HP:0005338
hpo_term: Sparse lateral eyebrow
chpo_term: 眉尖稀疏
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0012434
hpo_term: Delayed social development
chpo_term: 社交发育迟缓
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0005484
hpo_term: Secondary microcephaly
chpo_term: 继发性小头畸形
id: HP:0012115
hpo_term: Hepatitis
chpo_term: 肝炎
id: HP:0040196
hpo_term: Mild microcephaly
chpo_term: 轻度小头畸形
id: HP:0003160
hpo_term: Abnormal isoelectric focusing of serum transferrin
chpo_term: 血清转铁蛋白的等电位聚焦异常
Disease (ORPHA:67045):
X-linked intellectual disability with isolated growth hormone deficiency
MRGH

Associated phenotypes (HPO):
id: HP:0000824
hpo_term: Decreased response to growth hormone stimulation test
chpo_term: 生长激素刺激试验反应降低
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0030353
hpo_term: Decreased serum insulin-like growth factor 1
chpo_term: 血清胰岛素样生长因子-1（IGF1）水平降低
id: HP:0000570
hpo_term: Abnormal saccadic eye movements
chpo_term: 眼球扫视运动异常
id: HP:0000657
hpo_term: Oculomotor apraxia
chpo_term: 眼球运动失用
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0007979
hpo_term: Gaze-evoked horizontal nystagmus
chpo_term: 凝视诱发水平眼震
id: HP:0010627
hpo_term: Anterior pituitary hypoplasia
chpo_term: 垂体前叶发育不全
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0011755
hpo_term: Ectopic posterior pituitary
chpo_term: 垂体后叶异位
id: HP:0012447
hpo_term: Abnormal myelination
chpo_term: 髓鞘异常
id: HP:0040010
hpo_term: Small posterior fossa
chpo_term: 后颅窝小
Disease (ORPHA:67044):
Congenital dyserythropoietic anemia with thombocytopenia
Thrombocytopenia with congenital dyserythropoietic anemia
XDAT
X-linked congenital dyserythropoietic anemia with thrombocytopenia

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0001931
hpo_term: Hypochromic anemia
chpo_term: 低色素性贫血
id: HP:0004447
hpo_term: Poikilocytosis
chpo_term: 异形性红细胞
id: HP:0010972
hpo_term: Anemia of inadequate production
chpo_term: 红细胞 生成不足性贫血
id: HP:0011273
hpo_term: Anisocytosis
chpo_term: 红细胞大小不均
id: HP:0012143
hpo_term: Abnormal megakaryocyte morphology
chpo_term: 巨核细胞形态异常
id: HP:0012145
hpo_term: Abnormality of multiple cell lineages in the bone marrow
chpo_term: 骨髓中多系细胞异常
id: HP:0040185
hpo_term: Macrothrombocytopenia
chpo_term: 巨血小板减少症
id: HP:0045040
hpo_term: Abnormal lactate dehydrogenase level
chpo_term: 乳酸脱氢酶活性异常
Disease (ORPHA:67047):
Costeff optic atrophy syndrome
MGA3
Autosomal recessive optic atrophy type 3
Infantile optic atrophy with chorea and spastic paraplegia
Costeff syndrome
3-methylglutaconic aciduria type 3
Autosomal recessive optic atrophy plus syndrome

Associated phenotypes (HPO):
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:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001266
hpo_term: Choreoathetosis
chpo_term: 舞蹈手足徐动
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0002313
hpo_term: Spastic paraparesis
chpo_term: 痉挛性双下肢瘫
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (ORPHA:140989):
Primary angiitis of the central nervous system
Primary vasculitis of the central nervous system
Isolated angiitis of the central nervous system
PACNS
Primary central nervous system vasculitis
PCNSV

Associated phenotypes (HPO):
id: HP:0005318
hpo_term: Cerebral vasculitis
chpo_term: 脑血管炎
id: HP:0001269
hpo_term: Hemiparesis
chpo_term: 轻偏瘫
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0002017
hpo_term: Nausea and vomiting
chpo_term: 恶心和呕吐
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0002326
hpo_term: Transient ischemic attack
chpo_term: 短暂性脑缺血发作
id: HP:0002381
hpo_term: Aphasia
chpo_term: 失语症
id: HP:0003470
hpo_term: Paralysis
chpo_term: 瘫痪
id: HP:0007052
hpo_term: Multifocal cerebral white matter abnormalities
chpo_term: 多灶性脑白质异常
id: HP:0007236
hpo_term: Recurrent subcortical infarcts
chpo_term: 复发性皮质下梗死
id: HP:0012229
hpo_term: CSF pleocytosis
chpo_term: 脑脊液细胞增多
id: HP:0025456
hpo_term: Abnormal CSF protein level
chpo_term: 脑脊液蛋白水平异常
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害
id: HP:0000622
hpo_term: Blurred vision
chpo_term: 视力模糊
id: HP:0000651
hpo_term: Diplopia
chpo_term: 复视
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:0001260
hpo_term: Dysarthria
chpo_term: 构音障碍
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002170
hpo_term: Intracranial hemorrhage
chpo_term: 颅内出血
id: HP:0002273
hpo_term: Tetraparesis
chpo_term: 四肢轻瘫
id: HP:0002385
hpo_term: Paraparesis
chpo_term: 下肢轻瘫
id: HP:0007663
hpo_term: Reduced visual acuity
chpo_term: 视力下降
id: HP:0010534
hpo_term: Transient global amnesia
chpo_term: 短暂性全面性遗忘症
id: HP:0030588
hpo_term: Abnormal visual field test
chpo_term: 视野检查异常
id: HP:0000538
hpo_term: Pseudopapilledema
chpo_term: 假性视乳头水肿
id: HP:0001300
hpo_term: Parkinsonism
chpo_term: 帕金森症
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0025142
hpo_term: Constitutional symptom
chpo_term: 全身性症状
id: HP:0100576
hpo_term: Amaurosis fugax
chpo_term: 一时性黑蒙
Disease (ORPHA:100974):
FRAXF syndrome

Associated phenotypes (HPO):
id: HP:0003564
hpo_term: Folate-dependent fragile site at Xq28
chpo_term: 叶酸依赖性Xq28脆性位点
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000118
hpo_term: Phenotypic abnormality
chpo_term: 表型异常
Disease (ORPHA:67046):
3MG-CoA hydratase deficiency
MGA1
3-methylglutaconyl-CoA hydratase deficiency
3-methylglutaconic aciduria type 1

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
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: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:0002073
hpo_term: Progressive cerebellar ataxia
chpo_term: 进行性小脑共济失调
id: HP:0002134
hpo_term: Abnormal basal ganglia morphology
chpo_term: 基底节形态异常
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
Disease (ORPHA:100976):
Bathing suit ichthyosis
BSI

Associated phenotypes (HPO):
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
id: HP:0008064
hpo_term: Ichthyosis
chpo_term: 鱼鳞病
id: HP:0025092
hpo_term: Epidermal acanthosis
chpo_term: 表皮棘皮症
id: HP:0040189
hpo_term: Scaling skin
chpo_term: 皮肤脱屑
id: HP:0000656
hpo_term: Ectropion
chpo_term: 睑外翻
id: HP:0001019
hpo_term: Erythroderma
chpo_term: 剥脱性皮炎
id: HP:0001036
hpo_term: Parakeratosis
chpo_term: 角化不全
id: HP:0007460
hpo_term: Autoamputation of digits
chpo_term: 手指（足趾）自发性离断
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:0010829
hpo_term: Impaired temperature sensation
chpo_term: 温度觉障碍
id: HP:0012472
hpo_term: Eclabion
chpo_term: 唇外翻
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0000972
hpo_term: Palmoplantar hyperkeratosis
chpo_term: 掌跖角化
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0008070
hpo_term: Sparse hair
chpo_term: 毛发稀疏
id: HP:0008404
hpo_term: Nail dystrophy
chpo_term: 甲营养不良
id: HP:0025524
hpo_term: Palmoplantar scaling skin
chpo_term: 掌跖鱼鳞样皮损