TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:67048):
MGA4
3-methylglutaconic aciduria type 4

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000518
hpo_term: Cataract
chpo_term: 白内障
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:0001252
hpo_term: Hypotonia
chpo_term: 肌张力减退
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001410
hpo_term: Decreased liver function
chpo_term: 肝功能下降
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001638
hpo_term: Cardiomyopathy
chpo_term: 心肌病
id: HP:0001873
hpo_term: Thrombocytopenia
chpo_term: 血小板减少症
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002195
hpo_term: Dysgenesis of the cerebellar vermis
chpo_term: 小脑蚓部发育不全
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003535
hpo_term: 3-Methylglutaconic aciduria
chpo_term: 3-甲基戊烯二酸尿症
id: HP:0007730
hpo_term: Iris hypopigmentation
chpo_term: 虹膜色素减退
Disease (ORPHA:163654):
Tattoo dysplasia
SED-BDS
Spondyloepiphyseal dysplasia, Cantu type
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000154
hpo_term: Wide mouth
chpo_term: 宽嘴
id: HP:0000174
hpo_term: Abnormal palate morphology
chpo_term: 腭形态异常
id: HP:0000179
hpo_term: Thick lower lip vermilion
chpo_term: 厚下红唇
id: HP:0000215
hpo_term: Thick upper lip vermilion
chpo_term: 厚上红唇
id: HP:0000306
hpo_term: Abnormality of the chin
chpo_term: 下巴异常
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
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:0000475
hpo_term: Broad neck
chpo_term: 宽颈
id: HP:0000574
hpo_term: Thick eyebrow
chpo_term: 眉毛浓密
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0001608
hpo_term: Abnormality of the voice
chpo_term: 声音异常
id: HP:0001832
hpo_term: Abnormal metatarsal morphology
chpo_term: 跖骨形态异常
id: HP:0002162
hpo_term: Low posterior hairline
chpo_term: 后发际低
id: HP:0002164
hpo_term: Nail dysplasia
chpo_term: 甲发育不良
id: HP:0002212
hpo_term: Curly hair
chpo_term: 卷曲样发
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0002967
hpo_term: Cubitus valgus
chpo_term: 肘外翻
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004634
hpo_term: Cuboid-shaped vertebral bodies
chpo_term: 立方体形椎体
id: HP:0005069
hpo_term: Rhizo-meso-acromelic limb shortening
chpo_term: 根-干-端型肢体短缩
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0005622
hpo_term: Broad long bones
chpo_term: 长骨增宽
id: HP:0006394
hpo_term: Limited pronation/supination of forearm
chpo_term: 前臂旋前或旋后受限
id: HP:0007665
hpo_term: Curly eyelashes
chpo_term: 睫毛卷翘
id: HP:0008496
hpo_term: Multiple rows of eyelashes
chpo_term: 多行睫
id: HP:0008551
hpo_term: Microtia
chpo_term: 小耳畸形
id: HP:0008839
hpo_term: Hypoplastic pelvis
chpo_term: 骨盆发育不良
id: HP:0009103
hpo_term: Aplasia/Hypoplasia involving the pelvis
chpo_term: 骨盆骨发育不良/发育不全
id: HP:0009937
hpo_term: Facial hirsutism
chpo_term: 面部多毛症
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0011829
hpo_term: Narrow philtrum
chpo_term: 人中狭窄
id: HP:0100625
hpo_term: Enlarged thorax
chpo_term: 胸廓扩张
Disease (ORPHA:247798):
MUTYH-related attenuated FAP
MUTYH-related attenuated familial adenomatous polyposis
MUTYH-related polyposis
MUTYH-related attenuated familial polyposis coli
MUTYH-related AFAP

Associated phenotypes (HPO):
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0005227
hpo_term: Adenomatous colonic polyposis
chpo_term: 腺瘤性结肠息肉病
id: HP:0030255
hpo_term: Large intestinal polyposis
chpo_term: 大肠息肉病
id: HP:0040276
hpo_term: Adenocarcinoma of the colon
chpo_term: 结肠腺癌
id: HP:0100896
hpo_term: Rectal polyposis
chpo_term: 直肠息肉病
id: HP:0007649
hpo_term: Congenital hypertrophy of retinal pigment epithelium
chpo_term: 先天性视网膜色素上皮肥大
id: HP:0100245
hpo_term: Desmoid tumors
chpo_term: 硬性纤维瘤
Disease (ORPHA:1114):
Aplasia cutis congenita

Associated phenotypes (HPO):
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0004471
hpo_term: Aplasia cutis congenita over the scalp vertex
chpo_term: 先天性头顶部表皮发育不全
id: HP:0007383
hpo_term: Congenital localized absence of skin
chpo_term: 先天性局部皮肤缺损
id: HP:0010301
hpo_term: Spinal dysraphism
chpo_term: 椎管闭合不全
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0003010
hpo_term: Prolonged bleeding time
chpo_term: 出血时间延长
id: HP:0004348
hpo_term: Abnormality of bone mineral density
chpo_term: 骨密度异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0010783
hpo_term: Erythema
chpo_term: 红斑
id: HP:5200061
Disease (ORPHA:2444):
Congenital cystic adenomatous malformation of the lung
Congenital pulmonary airway malformation
Congenital cystic disease of the lung
CPAM
Congenital cystic adenomatoid malformation of the lung
CCAM

Associated phenotypes (HPO):
id: HP:0001561
hpo_term: Polyhydramnios
chpo_term: 羊水过多
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0002086
hpo_term: Abnormality of the respiratory system
chpo_term: 呼吸系统异常
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002103
hpo_term: Abnormal pleura morphology
chpo_term: 胸膜异常
Disease (ORPHA:1113):
Aphalangy-syndactyly-microcephaly syndrome

Associated phenotypes (HPO):
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001804
hpo_term: Hypoplastic fingernail
chpo_term: 指甲发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0010185
hpo_term: Aplasia/Hypoplasia of the distal phalanges of the toes
chpo_term: 末节趾骨发育不良/发育不全
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0001800
hpo_term: Hypoplastic toenails
chpo_term: 趾甲发育不良
id: HP:0001802
hpo_term: Absent toenail
chpo_term: 趾甲缺损
id: HP:0001830
hpo_term: Postaxial foot polydactyly
chpo_term: 轴后多趾
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0009773
hpo_term: Symphalangism affecting the phalanges of the hand
chpo_term: 指关节融合
id: HP:0100490
hpo_term: Camptodactyly of finger
chpo_term: 手指弯曲
Disease (ORPHA:93304):
Brachyolmia type 3
Autosomal dominant brachyolmia

Associated phenotypes (HPO):
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:0002751
hpo_term: Kyphoscoliosis
chpo_term: 脊柱后侧凸
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0004570
hpo_term: Increased vertebral height
chpo_term: 椎体高度增加
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
Disease (ORPHA:1112):
Johnson-Munson syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

Associated phenotypes (HPO):
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0009767
hpo_term: Aplasia/Hypoplasia of the phalanges of the hand
chpo_term: 指骨发育不良/发育不全
id: HP:0010173
hpo_term: Aplasia/Hypoplasia of the phalanges of the toes
chpo_term: 趾骨发育不良或发育不全
id: HP:0000055
hpo_term: Abnormality of female external genitalia
chpo_term: 女性外生殖器异常
id: HP:0001555
hpo_term: Asymmetry of the thorax
chpo_term: 胸廓不对称
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0001770
hpo_term: Toe syndactyly
chpo_term: 并趾
id: HP:0001798
hpo_term: Anonychia
chpo_term: 无甲症
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常
id: HP:0003042
hpo_term: Elbow dislocation
chpo_term: 肘关节脱位
id: HP:0004320
hpo_term: Vaginal fistula
chpo_term: 阴道瘘
id: HP:0005916
hpo_term: Abnormal metacarpal morphology
chpo_term: 掌骨形态异常
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0012621
hpo_term: Persistent cloaca
chpo_term: 泄殖腔遗存
Disease (ORPHA:1110):
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

Associated phenotypes (HPO):
id: HP:0000160
hpo_term: Narrow mouth
chpo_term: 小口畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
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:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0002623
hpo_term: Overriding aorta
chpo_term: 主动脉骑跨
id: HP:0002714
hpo_term: Downturned corners of mouth
chpo_term: 嘴角下弯
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0010669
hpo_term: Hypoplasia of the zygomatic bone
chpo_term: 颧骨发育不良
id: HP:0012303
hpo_term: Abnormal aortic arch morphology
chpo_term: 主动脉弓形态异常
id: HP:0100026
hpo_term: Arteriovenous malformation
chpo_term: 动静脉畸形
Disease (ORPHA:2440):
Isolated split hand-split foot malformation
Ectrodactyly
Split hand foot malformation
SHFM

Associated phenotypes (HPO):
id: HP:0012165
hpo_term: Oligodactyly
chpo_term: 少指（趾）畸形
id: HP:0001839
hpo_term: Split foot
chpo_term: 脚劈裂
id: HP:0004058
hpo_term: Hand monodactyly
chpo_term: 独指手
id: HP:0006101
hpo_term: Finger syndactyly
chpo_term: 手指并指
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000526
hpo_term: Aniridia
chpo_term: 无虹膜
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0004050
hpo_term: Absent hand
chpo_term: 手缺如
Disease (ORPHA:93308):
Polyepiphyseal dysplasia type 1
Multiple epiphyseal dysplasia type 1
MED1
EDM1

Associated phenotypes (HPO):
id: HP:0001288
hpo_term: Gait disturbance
chpo_term: 步态不稳
id: HP:0001385
hpo_term: Hip dysplasia
chpo_term: 髋关节发育不良
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003365
hpo_term: Arthralgia of the hip
chpo_term: 髋关节痛
id: HP:0030839
hpo_term: Knee pain
chpo_term: 膝痛
id: HP:0030973
hpo_term: Postexertional symptom exacerbation
chpo_term: 活动后症状加重
id: HP:0001376
hpo_term: Limitation of joint mobility
chpo_term: 关节活动受限
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002663
hpo_term: Delayed epiphyseal ossification
chpo_term: 骨骺骨化延迟
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0003170
hpo_term: Abnormal acetabulum morphology
chpo_term: 髋臼形态异常
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0006094
hpo_term: Finger joint hypermobility
chpo_term: 指关节活动过度
id: HP:0030840
hpo_term: Ankle pain
chpo_term: 脚踝痛
id: HP:0045086
hpo_term: Knee joint hypermobility
chpo_term: 膝关节过度伸展
id: HP:0002812
hpo_term: Coxa vara
chpo_term: 髋内翻
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:0005743
hpo_term: Avascular necrosis of the capital femoral epiphysis
chpo_term: 股骨头骨骺缺血性坏死
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
Disease (ORPHA:93302):
Brachyolmia type 2
Brachyolmia, Maroteaux type

Associated phenotypes (HPO):
id: HP:0000767
hpo_term: Pectus excavatum
chpo_term: 漏斗胸
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003312
hpo_term: Abnormal form of the vertebral bodies
chpo_term: 椎体形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0010306
hpo_term: Short thorax
chpo_term: 胸部短小
id: HP:0010653
hpo_term: Abnormality of the falx cerebri
chpo_term: 大脑镰异常
Disease (ORPHA:1118):
Fibular aplasia-ectrodactyly syndrome

Associated phenotypes (HPO):
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001171
hpo_term: Split hand
chpo_term: 手劈裂
id: HP:0006492
hpo_term: Aplasia/Hypoplasia of the fibula
chpo_term: 腓骨发育不良/发育不全
id: HP:0040071
hpo_term: Abnormal morphology of ulna
chpo_term: 尺骨形态异常
Disease (ORPHA:1117):
Gershoni-Baruch-Leibo syndrome
Aplasia cutis-myopia syndrome

Associated phenotypes (HPO):
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001057
hpo_term: Aplasia cutis congenita
chpo_term: 先天性表皮发育不全
id: HP:0001287
hpo_term: Meningitis
chpo_term: 脑膜炎
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0006934
hpo_term: Congenital nystagmus
chpo_term: 先天性眼球震颤
id: HP:0007703
hpo_term: Abnormality of retinal pigmentation
chpo_term: 视网膜色素异常
id: HP:0011003
hpo_term: High myopia
chpo_term: 高度近视
id: HP:0012639
hpo_term: Abnormal nervous system morphology
chpo_term: 神经系统形态异常
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
Disease (ORPHA:1116):
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Bronspiegel-Zelnick syndrome

Associated phenotypes (HPO):
id: HP:0000545
hpo_term: Myopia
chpo_term: 近视
id: HP:0000567
hpo_term: Chorioretinal coloboma
chpo_term: 脉络膜视网膜缺损
id: HP:0001004
hpo_term: Lymphedema
chpo_term: 淋巴水肿
id: HP:0001362
hpo_term: Calvarial skull defect
chpo_term: 颅骨缺损
id: HP:0001888
hpo_term: Lymphopenia
chpo_term: 淋巴细胞减少症
id: HP:0001892
hpo_term: Abnormal bleeding
chpo_term: 异常出血
id: HP:0001928
hpo_term: Abnormality of coagulation
chpo_term: 凝血异常
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0003075
hpo_term: Hypoproteinemia
chpo_term: 低蛋白血症
id: HP:0004209
hpo_term: Clinodactyly of the 5th finger
chpo_term: 第五指屈指畸形
id: HP:0004313
hpo_term: Decreased circulating antibody level
chpo_term: 循环抗体水平降低
id: HP:0007598
hpo_term: Bilateral single transverse palmar creases
chpo_term: 双侧单掌横折痕
id: HP:0011362
hpo_term: Abnormal hair quantity
chpo_term: 毛发数量异常
Disease (ORPHA:77299):
Syndromic microphthalmia type 10
Microphthalmia-brain atrophy syndrome
MOBA syndrome
MCOPS10

Associated phenotypes (HPO):
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0007633
hpo_term: Bilateral microphthalmos
chpo_term: 双侧小眼畸形
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002376
hpo_term: Developmental regression
chpo_term: 发育倒退
id: HP:0002506
hpo_term: Diffuse cerebral atrophy
chpo_term: 弥漫性脑萎缩
id: HP:0006956
hpo_term: Lateral ventricle dilatation
chpo_term: 侧脑室扩张
id: HP:0007162
hpo_term: Diffuse demyelination of the cerebral white matter
chpo_term: 脑白质弥漫性脱髓鞘
id: HP:0007366
hpo_term: Atrophy/Degeneration affecting the brainstem
chpo_term: 影响脑干的萎缩/退化
id: HP:0007371
hpo_term: Corpus callosum atrophy
chpo_term: 胼胝体萎缩
id: HP:0030215
hpo_term: Inappropriate crying
chpo_term: 不合时宜的哭泣
id: HP:0031165
hpo_term: Multifocal seizures
chpo_term: 多灶性癫痫发作
id: HP:0002123
hpo_term: Generalized myoclonic seizure
chpo_term: 全面性肌阵挛发作
id: HP:0002197
hpo_term: Generalized-onset seizure
chpo_term: 全面性发作
id: HP:0006855
hpo_term: Cerebellar vermis atrophy
chpo_term: 小脑蚓部萎缩
id: HP:0007361
hpo_term: Abnormal pons morphology
chpo_term: 桥脑形态异常
id: HP:0011174
hpo_term: Focal hyperkinetic seizure
chpo_term: 局灶性过度运动发作
id: HP:0031358
hpo_term: Vegetative state
chpo_term: 植物状态
id: HP:0100703
hpo_term: Tongue thrusting
chpo_term: 吐舌习惯
Disease (ORPHA:77298):
Syndromic microphthalmia type 3
Anophthalmia/microphthalmia-esophageal atresia syndrome
MCOPS3

Associated phenotypes (HPO):
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000528
hpo_term: Anophthalmia
chpo_term: 无眼畸形
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000572
hpo_term: Visual loss
chpo_term: 视力丧失
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000647
hpo_term: Sclerocornea
chpo_term: 角膜巩膜化
id: HP:0000878
hpo_term: 11 pairs of ribs
chpo_term: 11对肋骨
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001360
hpo_term: Holoprosencephaly
chpo_term: 前脑无裂畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001643
hpo_term: Patent ductus arteriosus
chpo_term: 动脉导管未闭
id: HP:0002032
hpo_term: Esophageal atresia
chpo_term: 食管闭锁
id: HP:0002575
hpo_term: Tracheoesophageal fistula
chpo_term: 气管食管瘘
id: HP:0002937
hpo_term: Hemivertebrae
chpo_term: 半椎体
id: HP:0003468
hpo_term: Abnormal vertebral morphology
chpo_term: 椎骨形态异常
id: HP:0008736
hpo_term: Hypoplasia of penis
chpo_term: 阴茎发育不良
Disease (ORPHA:77297):
Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
Majeed syndrome

Associated phenotypes (HPO):
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002653
hpo_term: Bone pain
chpo_term: 骨痛
id: HP:0002754
hpo_term: Osteomyelitis
chpo_term: 骨髓炎
id: HP:0002829
hpo_term: Arthralgia
chpo_term: 关节疼痛
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0004326
hpo_term: Cachexia
chpo_term: 恶病质
id: HP:0004810
hpo_term: Congenital hypoplastic anemia
chpo_term: 先天性发育不良性贫血
id: HP:0004840
hpo_term: Hypochromic microcytic anemia
chpo_term: 低色素性小红细胞性贫血
id: HP:0005561
hpo_term: Abnormality of bone marrow cell morphology
chpo_term: 骨髓细胞形态异常
id: HP:0012647
hpo_term: Abnormal inflammatory response
chpo_term: 异常炎性反应
id: HP:0200034
hpo_term: Papule
chpo_term: 丘疹
id: HP:0200039
hpo_term: Pustule
chpo_term: 脓疱
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0001974
hpo_term: Leukocytosis
chpo_term: 白细胞增多症
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0003326
hpo_term: Myalgia
chpo_term: 肌痛
id: HP:0011001
hpo_term: Increased bone mineral density
chpo_term: 骨密度增加
id: HP:0100769
hpo_term: Synovitis
chpo_term: 滑膜炎
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0002024
hpo_term: Malabsorption
chpo_term: 吸收不良
id: HP:0002113
hpo_term: Pulmonary infiltrates
chpo_term: 肺浸润
id: HP:0002659
hpo_term: Increased susceptibility to fractures
chpo_term: 骨折易感性增加
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0011123
hpo_term: Inflammatory abnormality of the skin
chpo_term: 皮肤炎症反应
id: HP:0012735
hpo_term: Cough
chpo_term: 咳嗽
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病
Disease (ORPHA:77296):
Hyperostosis frontalis interna
Morgagni-Stewart-Morel syndrome

Associated phenotypes (HPO):
id: HP:0004438
hpo_term: Hyperostosis frontalis interna
chpo_term: 额骨内板增生症
id: HP:0000707
hpo_term: Abnormality of the nervous system
chpo_term: 神经系统异常
id: HP:0000708
hpo_term: Behavioral abnormality
chpo_term: 行为异常
id: HP:0000818
hpo_term: Abnormality of the endocrine system
chpo_term: 内分泌系统异常
id: HP:0001513
hpo_term: Obesity
chpo_term: 肥胖
id: HP:0002315
hpo_term: Headache
chpo_term: 头痛
id: HP:0032245
hpo_term: Abnormal metabolism
chpo_term: 新陈代谢异常
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0001007
hpo_term: Hirsutism
chpo_term: 多毛症；女性多毛症
id: HP:0002076
hpo_term: Migraine
chpo_term: 偏头痛
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0000716
hpo_term: Depression
chpo_term: 抑郁
id: HP:0000725
hpo_term: Psychotic episodes
chpo_term: 精神病发作
id: HP:0000820
hpo_term: Abnormality of the thyroid gland
chpo_term: 甲状腺异常
id: HP:0000821
hpo_term: Hypothyroidism
chpo_term: 甲状腺功能减退症
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0000939
hpo_term: Osteoporosis
chpo_term: 骨质疏松
id: HP:0001061
hpo_term: Acne
chpo_term: 痤疮
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001348
hpo_term: Brisk reflexes
chpo_term: 反射活跃
id: HP:0002149
hpo_term: Hyperuricemia
chpo_term: 高尿酸血症
id: HP:0002310
hpo_term: Orofacial dyskinesia
chpo_term: 口面运动障碍
id: HP:0002321
hpo_term: Vertigo
chpo_term: 眩晕
id: HP:0002345
hpo_term: Action tremor
chpo_term: 动作性震颤
id: HP:0002354
hpo_term: Memory impairment
chpo_term: 记忆障碍
id: HP:0002758
hpo_term: Osteoarthritis
chpo_term: 骨关节炎
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0012444
hpo_term: Brain atrophy
chpo_term: 脑萎缩
id: HP:0031589
hpo_term: Suicidal ideation
chpo_term: 自杀意念
id: HP:0100543
hpo_term: Cognitive impairment
chpo_term: 认知功能损害