TaoMedAI/RareMedData huggingface dataset:
Disease (OMIM:615704):
POIKILODERMA, HEREDITARY FIBROSING, WITH TENDON CONTRACTURES, MYOPATHY, AND PULMONARY FIBROSIS
Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis

Associated phenotypes (HPO):
id: HP:0003202
hpo_term: Skeletal muscle atrophy
chpo_term: 骨骼肌萎缩
id: HP:0003236
hpo_term: Elevated circulating creatine kinase concentration
chpo_term: 血清肌酸磷酸激酶升高
id: HP:0001055
hpo_term: Erysipelas
chpo_term: 丹毒
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:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0045075
hpo_term: Sparse eyebrow
chpo_term: 疏眉
id: HP:0002091
hpo_term: Restrictive ventilatory defect
chpo_term: 限制性通气功能障碍
id: HP:0034392
hpo_term: Joint contracture
chpo_term: 关节挛缩
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0000823
hpo_term: Delayed puberty
chpo_term: 青春期发育延迟
id: HP:0000966
hpo_term: Hypohidrosis
chpo_term: 少汗症
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0000653
hpo_term: Sparse eyelashes
chpo_term: 睫毛稀疏
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:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0002522
hpo_term: Areflexia of lower limbs
chpo_term: 下肢反射消失
Disease (OMIM:608033):
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
Encephalopathy, acute, infection-induced, susceptibility to, 3

Associated phenotypes (HPO):
id: HP:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002510
hpo_term: Spastic tetraplegia
chpo_term: 痉挛性四肢瘫
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0002171
hpo_term: Gliosis
chpo_term: 胶质细胞增生
id: HP:0002181
hpo_term: Cerebral edema
chpo_term: 脑水肿
id: HP:0002090
hpo_term: Pneumonia
chpo_term: 肺炎
id: HP:0003829
hpo_term: Typified by incomplete penetrance
chpo_term: 具有不完全外显的特征
id: HP:0002715
hpo_term: Abnormality of the immune system
chpo_term: 免疫系统异常
id: HP:0002922
hpo_term: Increased CSF protein
chpo_term: 脑脊液蛋白升高
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0001259
hpo_term: Coma
chpo_term: 昏迷
Disease (OMIM:617113):
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43
Epileptic encephalopathy, early infantile, 43

Associated phenotypes (HPO):
id: HP:0002069
hpo_term: Bilateral tonic-clonic seizure
chpo_term: 双侧强直- 阵挛发作
id: HP:0002521
hpo_term: Hypsarrhythmia
chpo_term: 高度失律
id: HP:0010819
hpo_term: Atonic seizure
chpo_term: 失张力癫痫发作
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002360
hpo_term: Sleep disturbance
chpo_term: 睡眠障碍
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0001251
hpo_term: Ataxia
chpo_term: 共济失调
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0032794
hpo_term: Myoclonic seizure
chpo_term: 肌阵挛发作
id: HP:0100660
hpo_term: Dyskinesia
chpo_term: 运动障碍
id: HP:0012469
hpo_term: Infantile spasms
chpo_term: 婴儿痉挛
id: HP:0100710
hpo_term: Impulsivity
chpo_term: 冲动
id: HP:0007270
hpo_term: Atypical absence seizure
chpo_term: 非典型失神发作
id: HP:0200134
hpo_term: Epileptic encephalopathy
chpo_term: 癫痫性脑病
id: HP:0000752
hpo_term: Hyperactivity
chpo_term: 多动症
id: HP:0007018
hpo_term: Attention deficit hyperactivity disorder
chpo_term: 注意力缺陷多动障碍
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
Disease (OMIM:618220):
RETINITIS PIGMENTOSA 84
Retinitis pigmentosa 84

Associated phenotypes (HPO):
id: HP:0007737
hpo_term: Bone spicule pigmentation of the retina
chpo_term: 骨针样视网膜色素沉着
id: HP:0000662
hpo_term: Nyctalopia
chpo_term: 夜盲症
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
id: HP:0030553
hpo_term: Visual acuity no light perception
chpo_term: 视力无光感
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0007401
hpo_term: Macular atrophy
chpo_term: 黄斑萎缩
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:0001116
hpo_term: Macular coloboma
chpo_term: 黄斑缺损
Disease (OMIM:616219):
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5
Fibrosis of extraocular muscles, congenital, 5

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0009921
hpo_term: Duane anomaly
chpo_term: Duane 异常
Disease (OMIM:192430):
Velocardiofacial syndrome
VELOCARDIOFACIAL SYNDROME

Associated phenotypes (HPO):
id: HP:0001155
hpo_term: Abnormality of the hand
chpo_term: 手异常
id: HP:0000220
hpo_term: Velopharyngeal insufficiency
chpo_term: 腭咽机能不全
id: HP:0006549
hpo_term: Unilateral primary pulmonary dysgenesis
chpo_term: 单侧原发性肺动脉发育不良
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0011611
hpo_term: Interrupted aortic arch
chpo_term: 主动脉弓断离
id: HP:0011999
hpo_term: Paranoia
chpo_term: 偏执狂
id: HP:0012841
hpo_term: Retinal vascular tortuosity
chpo_term: 视网膜血管迂曲
id: HP:0002719
hpo_term: Recurrent infections
chpo_term: 反复感染
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0000718
hpo_term: Aggressive behavior
chpo_term: 攻击性行为
id: HP:0000712
hpo_term: Emotional lability
chpo_term: 情绪不稳
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0004935
hpo_term: Pulmonary artery atresia
chpo_term: 肺动脉闭锁
id: HP:0000598
hpo_term: Abnormality of the ear
chpo_term: 耳部异常
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000176
hpo_term: Submucous cleft hard palate
chpo_term: 黏膜下硬裂腭
id: HP:0000175
hpo_term: Cleft palate
chpo_term: 腭裂
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0000430
hpo_term: Underdeveloped nasal alae
chpo_term: 鼻翼发育不全
id: HP:0000194
hpo_term: Open mouth
chpo_term: 闭口不能
id: HP:0045025
hpo_term: Narrow palpebral fissure
chpo_term: 小睑裂
id: HP:0011840
hpo_term: Abnormality of T cell physiology
chpo_term: T细胞生理功能异常
id: HP:0000829
hpo_term: Hypoparathyroidism
chpo_term: 甲状旁腺功能减退症
id: HP:0011590
hpo_term: Double aortic arch
chpo_term: 双主动脉弓
id: HP:0000627
hpo_term: Posterior embryotoxon
chpo_term: 后胚胎环
id: HP:0002627
hpo_term: Right aortic arch with mirror image branching
chpo_term: 右位主动脉弓伴镜像分支
id: HP:0001636
hpo_term: Tetralogy of Fallot
chpo_term: 法洛四联症
id: HP:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0000201
hpo_term: Pierre-Robin sequence
chpo_term: 皮埃尔 - 罗宾序列征
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:0001611
hpo_term: Nasal speech
chpo_term: 鼻音
Disease (OMIM:608027):
PONTOCEREBELLAR HYPOPLASIA, TYPE 3
Pontocerebellar hypoplasia, type 3

Associated phenotypes (HPO):
id: HP:0004325
hpo_term: Decreased body weight
chpo_term: 体重下降
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003676
hpo_term: Progressive
chpo_term: 进行性/渐进性
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0002365
hpo_term: Hypoplasia of the brainstem
chpo_term: 脑干发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001272
hpo_term: Cerebellar atrophy
chpo_term: 小脑萎缩
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0012110
hpo_term: Hypoplasia of the pons
chpo_term: 脑桥发育不良
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0008936
hpo_term: Axial hypotonia
chpo_term: 轴向张力减退
id: HP:0000253
hpo_term: Progressive microcephaly
chpo_term: 渐进性小头畸形
id: HP:0002059
hpo_term: Cerebral atrophy
chpo_term: 脑萎缩
id: HP:0001321
hpo_term: Cerebellar hypoplasia
chpo_term: 小脑发育不全
id: HP:0002079
hpo_term: Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育不良
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0034295
hpo_term: Reduced cerebral white matter volume
chpo_term: 脑白质容积减少
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002705
hpo_term: High, narrow palate
chpo_term: 腭高而窄
id: HP:0001319
hpo_term: Neonatal hypotonia
chpo_term: 新生儿肌张力减退
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
Disease (OMIM:617107):
Thauvin-Robinet-Faivre syndrome
THAUVIN-ROBINET-FAIVRE SYNDROME

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001176
hpo_term: Large hands
chpo_term: 巨手
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0410255
hpo_term: Transient neutropenia
chpo_term: 一过性中性粒细胞减少
id: HP:0030037
hpo_term: Bifid ureter
chpo_term: 分叉型输尿管
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000480
hpo_term: Retinal coloboma
chpo_term: 视网膜缺损
id: HP:0010741
hpo_term: Pedal edema
chpo_term: 下肢水肿
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0012471
hpo_term: Thick vermilion border
chpo_term: 厚红唇缘
id: HP:0002619
hpo_term: Varicose veins
chpo_term: 静脉曲张
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0001548
hpo_term: Overgrowth
chpo_term: 过度生长
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0000637
hpo_term: Long palpebral fissure
chpo_term: 睑裂增宽
id: HP:0000158
hpo_term: Macroglossia
chpo_term: 巨舌症
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0001763
hpo_term: Pes planus
chpo_term: 扁平足
id: HP:0000311
hpo_term: Round face
chpo_term: 圆脸
id: HP:0004712
hpo_term: Renal malrotation
chpo_term: 肾旋转不良
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000098
hpo_term: Tall stature
chpo_term: 高身材
id: HP:0001520
hpo_term: Large for gestational age
chpo_term: 大于胎龄儿
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:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000107
hpo_term: Renal cyst
chpo_term: 肾囊肿
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001833
hpo_term: Long foot
chpo_term: 长足
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0002667
hpo_term: Nephroblastoma
chpo_term: 肾母细胞瘤
id: HP:0000589
hpo_term: Coloboma
chpo_term: 眼球缺损
id: HP:0001634
hpo_term: Mitral valve prolapse
chpo_term: 二尖瓣脱垂
Disease (OMIM:184252):
Spondylometaphyseal dysplasia, Kozlowski type
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

Associated phenotypes (HPO):
id: HP:0003037
hpo_term: Enlarged joints
chpo_term: 关节膨大
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0001498
hpo_term: Carpal bone hypoplasia
chpo_term: 腕骨骨发育不全
id: HP:0003311
hpo_term: Hypoplasia of the odontoid process
chpo_term: 齿状突发育不全
id: HP:0003375
hpo_term: Narrow greater sciatic notch
chpo_term: 坐骨大切迹变窄
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0006375
hpo_term: Dumbbell-shaped femur
chpo_term: 哑铃状股骨
id: HP:0001547
hpo_term: Abnormal rib cage morphology
chpo_term: 胸廓形态异常
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0008833
hpo_term: Irregular acetabular roof
chpo_term: 不规则髋臼顶
id: HP:0002657
hpo_term: Spondylometaphyseal dysplasia
chpo_term: 脊椎干骺端发育不良
id: HP:0001760
hpo_term: Abnormal foot morphology
chpo_term: 足部形态异常
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:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0005042
hpo_term: Irregular, rachitic-like metaphyses
chpo_term: 不规则佝偻病样干骺端
id: HP:0005041
hpo_term: Irregular capital femoral epiphysis
chpo_term: 股骨头骨骺不规则
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0003180
hpo_term: Flat acetabular roof
chpo_term: 扁平髋臼顶
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002869
hpo_term: Flared iliac wing
chpo_term: 喇叭状髂骨翼
id: HP:0000348
hpo_term: High forehead
chpo_term: 额头高
id: HP:0002826
hpo_term: Halberd-shaped pelvis
chpo_term: 戟形骨盆
id: HP:0000768
hpo_term: Pectus carinatum
chpo_term: 鸡胸
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0001216
hpo_term: Delayed ossification of carpal bones
chpo_term: 腕骨骨化延迟
Disease (OMIM:618234):
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11
Mitochondrial complex I deficiency, nuclear type 11

Associated phenotypes (HPO):
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002342
hpo_term: Intellectual disability, moderate
chpo_term: 中度智力障碍
id: HP:0003198
hpo_term: Myopathy
chpo_term: 肌病
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0002151
hpo_term: Increased serum lactate
chpo_term: 血清乳酸增高
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000580
hpo_term: Pigmentary retinopathy
chpo_term: 色素性视网膜病
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:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0002808
hpo_term: Kyphosis
chpo_term: 脊柱后凸畸形（驼背）
id: HP:0100704
hpo_term: Cerebral visual impairment
chpo_term: 大脑皮质型视觉障碍
id: HP:0001716
hpo_term: Wolff-Parkinson-White syndrome
chpo_term: 预激综合征
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0001403
hpo_term: Macrovesicular hepatic steatosis
chpo_term: 大泡性肝脂肪变性
id: HP:0001942
hpo_term: Metabolic acidosis
chpo_term: 代谢性酸中毒
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
Disease (OMIM:615710):
MITCHELL-RILEY SYNDROME
Mitchell-Riley syndrome

Associated phenotypes (HPO):
id: HP:0002014
hpo_term: Diarrhea
chpo_term: 腹泻
id: HP:0002245
hpo_term: Meckel diverticulum
chpo_term: Meckel憩室
id: HP:0001396
hpo_term: Cholestasis
chpo_term: 胆汁淤积
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0001541
hpo_term: Ascites
chpo_term: 腹水
id: HP:0005235
hpo_term: Jejunal atresia
chpo_term: 空肠闭锁
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002594
hpo_term: Pancreatic hypoplasia
chpo_term: 胰腺发育不良
id: HP:0011467
hpo_term: Absent gallbladder
chpo_term: 胆囊缺失
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0011985
hpo_term: Acholic stools
chpo_term: 无胆色大便
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0002904
hpo_term: Hyperbilirubinemia
chpo_term: 高胆红素血症
id: HP:0001734
hpo_term: Annular pancreas
chpo_term: 环状胰
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0005912
hpo_term: Biliary atresia
chpo_term: 胆道闭锁
id: HP:0002247
hpo_term: Duodenal atresia
chpo_term: 十二指肠闭锁
id: HP:0002566
hpo_term: Intestinal malrotation
chpo_term: 肠旋转不良
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
Disease (OMIM:261500):
EOSINOPHIL PEROXIDASE DEFICIENCY
Eosinophil peroxidase deficiency

Associated phenotypes (HPO):
id: HP:0034253
hpo_term: Eosinophil nuclear hypersegmentation
chpo_term: 嗜酸性粒细胞分叶过多
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
Disease (OMIM:216950):
COMPLEMENT COMPONENT C1r/C1s DEFICIENCY
Complement component c1r deficiency

Associated phenotypes (HPO):
id: HP:0002960
hpo_term: Autoimmunity
chpo_term: 自身免疫
id: HP:0007417
hpo_term: Discoid lupus rash
chpo_term: 盘状红斑狼疮
id: HP:0000123
hpo_term: Nephritis
chpo_term: 肾炎
id: HP:0004431
hpo_term: Complement deficiency
chpo_term: 补体缺陷
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0002837
hpo_term: Recurrent bronchitis
chpo_term: 复发性支气管炎
id: HP:0001369
hpo_term: Arthritis
chpo_term: 关节炎
Disease (OMIM:617661):
VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2
Vertebral, cardiac, renal, and limb defects syndrome 2

Associated phenotypes (HPO):
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0000750
hpo_term: Delayed speech and language development
chpo_term: 语言发育迟缓
id: HP:0008905
hpo_term: Rhizomelia
chpo_term: 肢体近端缩短
id: HP:0001883
hpo_term: Talipes
chpo_term: 畸形足
id: HP:0000089
hpo_term: Renal hypoplasia
chpo_term: 肾发育不全
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0004383
hpo_term: Hypoplastic left heart
chpo_term: 左心发育不全
id: HP:6000776
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0012622
hpo_term: Chronic kidney disease
chpo_term: 慢性肾病
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000774
hpo_term: Narrow chest
chpo_term: 窄胸
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0001545
hpo_term: Anteriorly placed anus
chpo_term: 肛门前置
Disease (OMIM:601003):
Brody myopathy
BRODY MYOPATHY

Associated phenotypes (HPO):
id: HP:0002047
hpo_term: Malignant hyperthermia
chpo_term: 恶性高热
id: HP:0002411
hpo_term: Myokymia
chpo_term: 肌纤维颤搐
id: HP:0031826
hpo_term: Abnormal reflex
chpo_term: 反射异常
id: HP:0002486
hpo_term: Myotonia
chpo_term: 肌强直
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003474
hpo_term: Somatic sensory dysfunction
chpo_term: 躯体感觉异常
id: HP:0100284
hpo_term: EMG: myotonic discharges
chpo_term: 肌电图:肌强直性放电
id: HP:0002380
hpo_term: Fasciculations
chpo_term: 肌束震颤
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0010548
hpo_term: Percussion myotonia
chpo_term: 敲击性肌强直
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0009046
hpo_term: Difficulty running
chpo_term: 跑步困难
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:0003712
hpo_term: Skeletal muscle hypertrophy
chpo_term: 骨骼肌肥大
id: HP:0008967
hpo_term: Exercise-induced muscle stiffness
chpo_term: 运动诱发的肌肉僵硬
id: HP:0003710
hpo_term: Exercise-induced muscle cramps
chpo_term: 运动引起的肌肉痉挛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0003623
hpo_term: Neonatal onset
chpo_term: 新生儿期发病
Disease (OMIM:602522):
BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
Bartter syndrome, type 4A, neonatal, with sensorineural deafness

Associated phenotypes (HPO):
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0003113
hpo_term: Hypochloremia
chpo_term: 低氯血症
id: HP:0005576
hpo_term: Tubulointerstitial fibrosis
chpo_term: 肾小管间质纤维化
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0012605
hpo_term: Hypernatriuria
chpo_term: 高钠尿症
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0000859
hpo_term: Hyperaldosteronism
chpo_term: 醛固酮增多症
id: HP:0001789
hpo_term: Hydrops fetalis
chpo_term: 胎儿水肿
id: HP:0002914
hpo_term: Hyperchloriduria
chpo_term: 高氯尿症
id: HP:0004737
hpo_term: Global glomerulosclerosis
chpo_term: 完全性肾小球硬化症
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001265
hpo_term: Hyporeflexia
chpo_term: 腱反射减弱
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001563
hpo_term: Fetal polyuria
chpo_term: 胎儿多尿
id: HP:0005565
hpo_term: Reduced renal corticomedullary differentiation
chpo_term: 肾皮髓质分界模糊
id: HP:0012213
hpo_term: Decreased glomerular filtration rate
chpo_term: 肾小球滤过率下降
id: HP:0003081
hpo_term: Increased urinary potassium
chpo_term: 尿钾增加
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0004909
hpo_term: Hypokalemic hypochloremic metabolic alkalosis
chpo_term: 低钾低氯性代谢性碱中毒
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
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:0002900
hpo_term: Hypokalemia
chpo_term: 低钾血症
id: HP:0004727
hpo_term: Impaired renal concentrating ability
chpo_term: 肾浓缩功能障碍
id: HP:0000103
hpo_term: Polyuria
chpo_term: 多尿
id: HP:0000127
hpo_term: Renal salt wasting
chpo_term: 肾源性盐流失