TaoMedAI/RareMedData huggingface dataset:
Disease (ORPHA:557003):
Oculo-skeleto-dental syndrome
Oculoskeletodental syndrome

Associated phenotypes (HPO):
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0011020
hpo_term: Abnormality of mucopolysaccharide metabolism
chpo_term: 粘多糖代谢异常
id: HP:0012758
hpo_term: Neurodevelopmental delay
chpo_term: 神经发育延迟
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000677
hpo_term: Oligodontia
chpo_term: 少牙畸形
id: HP:0000691
hpo_term: Microdontia
chpo_term: 小牙畸形
id: HP:0002300
hpo_term: Mutism
chpo_term: 缄默症
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:0002901
hpo_term: Hypocalcemia
chpo_term: 低钙血症
id: HP:0002942
hpo_term: Thoracic kyphosis
chpo_term: 胸椎后凸
id: HP:0003090
hpo_term: Hypoplasia of the capital femoral epiphysis
chpo_term: 股骨近端骨骺发育不全
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0006297
hpo_term: Enamel hypoplasia
chpo_term: 牙釉质发育不全
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0007042
hpo_term: Focal white matter lesions
chpo_term: 局灶性脑白质病变
id: HP:0009237
hpo_term: Short 5th finger
chpo_term: 第五指发育不全或不发育
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
id: HP:0010663
hpo_term: Abnormality of thalamus morphology
chpo_term: 丘脑形态异常
id: HP:0010761
hpo_term: Broad columella
chpo_term: 宽鼻小柱
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0000121
hpo_term: Nephrocalcinosis
chpo_term: 肾钙质沉着症
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000501
hpo_term: Glaucoma
chpo_term: 青光眼
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000599
hpo_term: Abnormality of the frontal hairline
chpo_term: 前额发际线异常
id: HP:0001297
hpo_term: Stroke
chpo_term: 卒中
id: HP:0001328
hpo_term: Specific learning disability
chpo_term: 特定的学习障碍
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
Disease (ORPHA:2512):
Microcephalia vera
MCPH
Microcephaly vera
Autosomal recessive primary microcephaly
True microcephaly

Associated phenotypes (HPO):
id: HP:0000219
hpo_term: Thin upper lip vermilion
chpo_term: 薄上唇红
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000340
hpo_term: Sloping forehead
chpo_term: 额头倾斜
id: HP:0000582
hpo_term: Upslanted palpebral fissure
chpo_term: 睑裂上斜
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0002282
hpo_term: Gray matter heterotopia
chpo_term: 脑灰质异位
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0000076
hpo_term: Vesicoureteral reflux
chpo_term: 膀胱输尿管返流
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0001302
hpo_term: Pachygyria
chpo_term: 巨脑回
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0003103
hpo_term: Abnormal cortical bone morphology
chpo_term: 皮质骨形态异常
id: HP:0007333
hpo_term: Hypoplasia of the frontal lobes
chpo_term: 额叶发育不良
Disease (ORPHA:500166):
SIN3-related intellectual disability syndrome due to a point mutation

Associated phenotypes (HPO):
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0001999
hpo_term: Abnormal facial shape
chpo_term: 面部形状异常
id: HP:0410263
hpo_term: Brain imaging abnormality
chpo_term: 脑成像异常
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000729
hpo_term: Autistic behavior
chpo_term: 自闭症行为
id: HP:0000924
hpo_term: Abnormality of the skeletal system
chpo_term: 骨骼系统异常
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0032059
hpo_term: Mild malformation of cortical development
chpo_term: 皮质发育轻度畸形
id: HP:0040195
hpo_term: Decreased head circumference
chpo_term: 头围减小
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000722
hpo_term: Obsessive-compulsive behavior
chpo_term: 强迫行为
id: HP:0000736
hpo_term: Short attention span
chpo_term: 注意力短暂
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001808
hpo_term: Fragile nails
chpo_term: 脆甲
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002500
hpo_term: Abnormal cerebral white matter morphology
chpo_term: 脑白质形态异常
id: HP:0002750
hpo_term: Delayed skeletal maturation
chpo_term: 骨成熟延迟
id: HP:0006989
hpo_term: Dysplastic corpus callosum
chpo_term: 胼胝体发育异常
id: HP:0030084
hpo_term: Clinodactyly
chpo_term: 指（趾）内弯
Disease (ORPHA:293707):
BMRS, MKB type
X-linked Ohdo syndrome
BMRS, Maat-Kievit-Brunner type
Blepharophimosis-intellectual disability syndrome, MKB type
Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type

Associated phenotypes (HPO):
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000325
hpo_term: Triangular face
chpo_term: 三角脸
id: HP:0000414
hpo_term: Bulbous nose
chpo_term: 蒜头鼻
id: HP:0000448
hpo_term: Prominent nose
chpo_term: 鼻前突
id: HP:0000581
hpo_term: Blepharophimosis
chpo_term: 眼睑裂狭小
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0008947
hpo_term: Infantile muscular hypotonia
chpo_term: 婴儿型肌张力减退
id: HP:0009928
hpo_term: Thick nasal alae
chpo_term: 鼻翼增厚
Disease (ORPHA:529808):
Chronic bilirubin encephalopathy
BIND
CBE
KSD
Kernicterus spectrum disorder
Bilirubin-induced neurological dysfunction

Associated phenotypes (HPO):
id: HP:0002480
hpo_term: Hepatic encephalopathy
chpo_term: 肝性脑病
id: HP:0003265
hpo_term: Neonatal hyperbilirubinemia
chpo_term: 新生儿高胆红素血症
id: HP:0006579
hpo_term: Prolonged neonatal jaundice
chpo_term: 新生儿黄疸期延长
id: HP:0006958
hpo_term: Abnormal auditory evoked potentials
chpo_term: 听觉诱发电位异常
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000502
hpo_term: Abnormal conjunctiva morphology
chpo_term: 结膜形态异常
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:0001276
hpo_term: Hypertonia
chpo_term: 肌张力增高
id: HP:0001343
hpo_term: Kernicterus
chpo_term: 核黄疸
id: HP:0001878
hpo_term: Hemolytic anemia
chpo_term: 溶血性贫血
id: HP:0001945
hpo_term: Fever
chpo_term: 发热
id: HP:0002871
hpo_term: Central apnea
chpo_term: 中枢性呼吸暂停
id: HP:0003073
hpo_term: Hypoalbuminemia
chpo_term: 低蛋白血症
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012696
hpo_term: Abnormal thalamic MRI signal intensity
chpo_term: 丘脑核磁共振信号强度异常
id: HP:0032106
hpo_term: Conjunctival icterus
chpo_term: 结膜黄疸
id: HP:0100021
hpo_term: Cerebral palsy
chpo_term: 脑瘫
id: HP:0003228
hpo_term: Hypernatremia
chpo_term: 高钠血症
id: HP:0025518
hpo_term: Visual gaze preference
chpo_term: 视觉凝视偏好
id: HP:0040187
hpo_term: Neonatal sepsis
chpo_term: 新生儿败血症
Disease (ORPHA:2502):
Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

Associated phenotypes (HPO):
id: HP:0000405
hpo_term: Conductive hearing impairment
chpo_term: 传导性听力障碍
id: HP:0001256
hpo_term: Intellectual disability, mild
chpo_term: 轻度智力障碍
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0000403
hpo_term: Recurrent otitis media
chpo_term: 反复发作型中耳炎
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0001769
hpo_term: Broad foot
chpo_term: 宽足
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0001964
hpo_term: Aplasia/Hypoplasia of metatarsal bones
chpo_term: 跖骨发育不良/发育不全
id: HP:0002868
hpo_term: Narrow iliac wing
chpo_term: 髂骨翼狭窄
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0002979
hpo_term: Bowing of the legs
chpo_term: 腿弯曲
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003026
hpo_term: Short long bone
chpo_term: 长骨短
id: HP:0003085
hpo_term: Long fibula
chpo_term: 长腓骨
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0006009
hpo_term: Broad phalanx
chpo_term: 指（趾）骨增宽
id: HP:0006413
hpo_term: Broad tibial metaphyses
chpo_term: 胫骨干骺端变宽
id: HP:0006417
hpo_term: Broad femoral metaphyses
chpo_term: 股骨干骺端变宽
id: HP:0008110
hpo_term: Equinovarus deformity
chpo_term: 马蹄内翻变形
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0009760
hpo_term: Antecubital pterygium
chpo_term: 肘前翼状胬肉
id: HP:0100864
hpo_term: Short femoral neck
chpo_term: 股骨颈短
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000540
hpo_term: Hypermetropia
chpo_term: 远视
Disease (ORPHA:139466):
Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
SERKAL syndrome

Associated phenotypes (HPO):
id: HP:0000104
hpo_term: Renal agenesis
chpo_term: 肾缺如
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001562
hpo_term: Oligohydramnios
chpo_term: 羊水过少
id: HP:0002089
hpo_term: Pulmonary hypoplasia
chpo_term: 肺发育不良
id: HP:0012245
hpo_term: Sex reversal
chpo_term: 性反转
id: HP:0000036
hpo_term: Abnormal penis morphology
chpo_term: 阴茎形态异常
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000202
hpo_term: Oral cleft
chpo_term: 口裂
id: HP:0000776
hpo_term: Congenital diaphragmatic hernia
chpo_term: 先天性膈疝
id: HP:0000834
hpo_term: Abnormality of the adrenal glands
chpo_term: 肾上腺异常
id: HP:0001629
hpo_term: Ventricular septal defect
chpo_term: 室间隔缺损
id: HP:0001642
hpo_term: Pulmonic stenosis
chpo_term: 肺动脉狭窄
id: HP:0004794
hpo_term: Malrotation of small bowel
chpo_term: 小肠旋转不良
id: HP:0005343
hpo_term: Hypoplasia of the bladder
chpo_term: 膀胱发育不良
id: HP:0030680
hpo_term: Abnormality of cardiovascular system morphology
chpo_term: 心血管系统形态异常
Disease (ORPHA:2505):
Circumferential skin creases, Kunze type
Multiple benign circumferential skin creases on limbs
Congenital circumferential skin folds
Kunze-Riehm syndrome
CCSF

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000045
hpo_term: Abnormality of the scrotum
chpo_term: 阴囊异常
id: HP:0000046
hpo_term: Small scrotum
chpo_term: 小阴囊
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
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:0000271
hpo_term: Abnormality of the face
chpo_term: 脸部异常
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000482
hpo_term: Microcornea
chpo_term: 小角膜
id: HP:0000488
hpo_term: Retinopathy
chpo_term: 视网膜病变
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000969
hpo_term: Edema
chpo_term: 水肿
id: HP:0001072
hpo_term: Thickened skin
chpo_term: 皮肤增厚
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:0001537
hpo_term: Umbilical hernia
chpo_term: 脐疝
id: HP:0001635
hpo_term: Congestive heart failure
chpo_term: 充血性心力衰竭
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0003011
hpo_term: Abnormality of the musculature
chpo_term: 肌肉组织异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0006768
hpo_term: Localized neuroblastoma
chpo_term: 局灶神经母细胞瘤
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0007522
hpo_term: Increased number of skin folds
chpo_term: 皮肤皱褶增多
id: HP:0000377
hpo_term: Abnormal pinna morphology
chpo_term: 耳廓形态异常
id: HP:0100559
hpo_term: Lower limb asymmetry
chpo_term: 下肢不对称
id: HP:0100560
hpo_term: Upper limb asymmetry
chpo_term: 上肢不对称
Disease (ORPHA:95626):
Acquired CDI
Acquired neurogenic diabetes insipidus
Acquired arginine vasopressin deficiency

Associated phenotypes (HPO):
id: HP:0000873
hpo_term: Diabetes insipidus
chpo_term: 尿崩症
id: HP:0001824
hpo_term: Weight loss
chpo_term: 体重减轻
id: HP:0001959
hpo_term: Polydipsia
chpo_term: 烦渴
id: HP:0100515
hpo_term: Pollakisuria
chpo_term: 尿频
Disease (ORPHA:2508):
Proud-Levine-Carpenter syndrome
Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome
ACC-abnormal genitalia syndrome
Proud syndrome
Corpus callosum agenesis-abnormal genitalia syndrome

Associated phenotypes (HPO):
id: HP:0000023
hpo_term: Inguinal hernia
chpo_term: 腹股沟疝
id: HP:0000047
hpo_term: Hypospadias
chpo_term: 尿道下裂
id: HP:0000110
hpo_term: Renal dysplasia
chpo_term: 肾发育不良
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000280
hpo_term: Coarse facial features
chpo_term: 面容粗糙
id: HP:0000411
hpo_term: Protruding ear
chpo_term: 招风耳
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0001250
hpo_term: Seizure
chpo_term: 癫痫发作
id: HP:0001257
hpo_term: Spasticity
chpo_term: 痉挛
id: HP:0001274
hpo_term: Agenesis of corpus callosum
chpo_term: 胼胝体发育不全
id: HP:0002120
hpo_term: Cerebral cortical atrophy
chpo_term: 大脑皮层萎缩
id: HP:0002230
hpo_term: Generalized hirsutism
chpo_term: 全身性多毛症
id: HP:0002445
hpo_term: Tetraplegia
chpo_term: 四肢瘫
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0003272
hpo_term: Abnormal hip bone morphology
chpo_term: 髋骨形态异常
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0008678
hpo_term: Renal hypoplasia/aplasia
chpo_term: 肾发育不良/不全
id: HP:0010720
hpo_term: Abnormal hair pattern
chpo_term: 毛发分布异常
id: HP:0010864
hpo_term: Intellectual disability, severe
chpo_term: 重度智力障碍
id: HP:0011344
hpo_term: Severe global developmental delay
chpo_term: 严重的全面性发育迟缓
Disease (ORPHA:276399):
Familial multinodular goiter syndrome
Familial MNG
FMNG
Familial multinodular goiter

Associated phenotypes (HPO):
id: HP:0005987
hpo_term: Multinodular goiter
chpo_term: 多结节性甲状腺肿
id: HP:0002671
hpo_term: Basal cell carcinoma
chpo_term: 基底细胞癌
id: HP:0005584
hpo_term: Renal cell carcinoma
chpo_term: 肾细胞癌
id: HP:0100528
hpo_term: Pleuropulmonary blastoma
chpo_term: 胸膜肺母细胞瘤
id: HP:0100615
hpo_term: Ovarian neoplasm
chpo_term: 卵巢肿瘤
id: HP:0100617
hpo_term: Testicular seminoma
chpo_term: 睾丸精原细胞瘤
id: HP:0100619
hpo_term: Sertoli cell neoplasm
chpo_term: 睾丸支持细胞瘤
id: HP:0200063
hpo_term: Colorectal polyposis
chpo_term: 结直肠息肉病
id: HP:0002890
hpo_term: Thyroid carcinoma
chpo_term: 甲状腺癌
id: HP:0006779
hpo_term: Alveolar rhabdomyosarcoma
chpo_term: 腺泡型横纹肌肉瘤
id: HP:0007129
hpo_term: Cerebellar medulloblastoma
chpo_term: 小脑髓母细胞瘤
id: HP:0030071
hpo_term: Medulloepithelioma
chpo_term: 髓上皮瘤
id: HP:0030434
hpo_term: Pilomatrixoma
chpo_term: 毛母质瘤
id: HP:0000836
hpo_term: Hyperthyroidism
chpo_term: 甲状腺功能亢进症
Disease (ORPHA:2500):
Acrogeria, Gottron type
Acrogeria
Gottron syndrome
Acrometageria

Associated phenotypes (HPO):
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000951
hpo_term: Abnormality of the skin
chpo_term: 皮肤异常
id: HP:0000963
hpo_term: Thin skin
chpo_term: 皮肤变薄
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0001773
hpo_term: Short foot
chpo_term: 短足
id: HP:0002213
hpo_term: Fine hair
chpo_term: 绒毛
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0002652
hpo_term: Skeletal dysplasia
chpo_term: 骨骼发育不良
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0001382
hpo_term: Joint hypermobility
chpo_term: 关节过度活动
id: HP:0007392
hpo_term: Excessive wrinkled skin
chpo_term: 皮肤皱褶过多
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0007495
hpo_term: Prematurely aged appearance
chpo_term: 早衰面容
id: HP:0008065
hpo_term: Aplasia/Hypoplasia of the skin
chpo_term: 皮肤发育缺陷/不全
id: HP:0100578
hpo_term: Lipoatrophy
chpo_term: 脂肪萎缩
id: HP:0100585
hpo_term: Telangiectasia of the skin
chpo_term: 皮肤毛细血管扩张
id: HP:0200042
hpo_term: Skin ulcer
chpo_term: 皮肤溃疡
id: HP:0200055
hpo_term: Small hand
chpo_term: 小手
Disease (ORPHA:2501):
Metaphyseal chondrodysplasia, Spahr type

Associated phenotypes (HPO):
id: HP:0000164
hpo_term: Abnormality of the dentition
chpo_term: 牙列异常
id: HP:0000670
hpo_term: Carious teeth
chpo_term: 龋齿
id: HP:0000944
hpo_term: Abnormal metaphysis morphology
chpo_term: 干骺端形态异常
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: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:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003307
hpo_term: Hyperlordosis
chpo_term: 脊柱前凸过度
id: HP:0003498
hpo_term: Disproportionate short stature
chpo_term: 不成比例的身材矮小
id: HP:0004349
hpo_term: Reduced bone mineral density
chpo_term: 骨密度降低
id: HP:0005871
hpo_term: Metaphyseal chondrodysplasia
chpo_term: 干骺端软骨发育不良
id: HP:0005930
hpo_term: Abnormal epiphysis morphology
chpo_term: 骨骺形态异常
id: HP:0006385
hpo_term: Short lower limbs
chpo_term: 下肢短
id: HP:0006409
hpo_term: Progressive leg bowing
chpo_term: 渐进式腿部弯曲
id: HP:0006487
hpo_term: Bowing of the long bones
chpo_term: 长骨弯曲
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
Disease (ORPHA:2609):
Isolated NADH-ubiquinone reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-CoQ reductase deficiency
Isolated complex I deficiency
Isolated mitochondrial respiratory chain complex I deficiency

Associated phenotypes (HPO):
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:0000114
hpo_term: Proximal tubulopathy
chpo_term: 近端肾小管病
id: HP:0000407
hpo_term: Sensorineural hearing impairment
chpo_term: 感音神经性耳聋
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0000508
hpo_term: Ptosis
chpo_term: 上睑下垂
id: HP:0000543
hpo_term: Optic disc pallor
chpo_term: 视盘苍白
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0000817
hpo_term: Poor eye contact
chpo_term: 眼神躲避
id: HP:0001138
hpo_term: Optic neuropathy
chpo_term: 视神经病变
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:0001254
hpo_term: Lethargy
chpo_term: 昏睡
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001298
hpo_term: Encephalopathy
chpo_term: 脑病
id: HP:0001324
hpo_term: Muscle weakness
chpo_term: 肌无力
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0001639
hpo_term: Hypertrophic cardiomyopathy
chpo_term: 肥厚型心肌病
id: HP:0001943
hpo_term: Hypoglycemia
chpo_term: 低血糖
id: HP:0002013
hpo_term: Vomiting
chpo_term: 呕吐
id: HP:0002093
hpo_term: Respiratory insufficiency
chpo_term: 呼吸功能不全
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002352
hpo_term: Leukoencephalopathy
chpo_term: 白质脑病
id: HP:0002415
hpo_term: Leukodystrophy
chpo_term: 脑白质营养不良
id: HP:0002421
hpo_term: Poor head control
chpo_term: 头部控制能力弱
id: HP:0002490
hpo_term: Increased CSF lactate
chpo_term: 脑脊液乳酸升高
id: HP:0003128
hpo_term: Lactic acidosis
chpo_term: 乳酸酸中毒
id: HP:0003542
hpo_term: Increased serum pyruvate
chpo_term: 血清丙酮酸增高
id: HP:0003737
hpo_term: Mitochondrial myopathy
chpo_term: 线粒体肌病
id: HP:0007704
hpo_term: Paroxysmal involuntary eye movements
chpo_term: 阵发性不自主眼球运动
id: HP:0008316
hpo_term: Abnormal mitochondria in muscle tissue
chpo_term: 肌肉组织中线粒体异常
id: HP:0012748
hpo_term: Focal T2 hyperintense brainstem lesion
chpo_term: 脑干局灶性T2高信号病变
id: HP:0000252
hpo_term: Microcephaly
chpo_term: 小头畸形
id: HP:0000618
hpo_term: Blindness
chpo_term: 失明
id: HP:0000819
hpo_term: Diabetes mellitus
chpo_term: 糖尿病
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0025116
hpo_term: Fetal distress
chpo_term: 胎儿窘迫
Disease (ORPHA:567983):
Parenteral nutrition-associated cholestasis
PNAC

Associated phenotypes (HPO):
id: HP:0000952
hpo_term: Jaundice
chpo_term: 黄疸
id: HP:0001399
hpo_term: Hepatic failure
chpo_term: 肝功能衰竭
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0001622
hpo_term: Premature birth
chpo_term: 早产
id: HP:0001744
hpo_term: Splenomegaly
chpo_term: 脾肿大
id: HP:0002027
hpo_term: Abdominal pain
chpo_term: 腹痛
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0002910
hpo_term: Elevated hepatic transaminase
chpo_term: 肝脏转氨酶升高
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0004359
hpo_term: Abnormal circulating fatty-acid concentration
chpo_term: 脂肪酸代谢异常
id: HP:0006560
hpo_term: Biliary hyperplasia
chpo_term: 胆管增生
id: HP:0011113
hpo_term: Abnormality of cytokine secretion
chpo_term: 细胞因子分泌异常
id: HP:0011473
hpo_term: Villous atrophy
chpo_term: 绒毛萎缩
id: HP:0030948
hpo_term: Elevated gamma-glutamyltransferase level
chpo_term: γ-谷氨酰转移酶活性增高
id: HP:0032245
hpo_term: Abnormal metabolism
chpo_term: 新陈代谢异常
id: HP:0001081
hpo_term: Cholelithiasis
chpo_term: 胆石症
id: HP:0001394
hpo_term: Cirrhosis
chpo_term: 肝硬化
id: HP:0001395
hpo_term: Hepatic fibrosis
chpo_term: 肝纤维化
id: HP:0001397
hpo_term: Hepatic steatosis
chpo_term: 肝脂肪变性
id: HP:0001409
hpo_term: Portal hypertension
chpo_term: 门脉高压
id: HP:0002908
hpo_term: Conjugated hyperbilirubinemia
chpo_term: 高结合胆红素血症
Disease (ORPHA:2612):
Solomon syndrome
Nevus sebaceus syndrome
Organoid nevus syndrome
Linear nevus sebaceus syndrome
Nevus sebaceus of Jadassohn
Schimmelpenning syndrome

Associated phenotypes (HPO):
id: HP:0000269
hpo_term: Prominent occiput
chpo_term: 枕骨突出
id: HP:0000324
hpo_term: Facial asymmetry
chpo_term: 面部不对称
id: HP:0000478
hpo_term: Abnormality of the eye
chpo_term: 眼部异常
id: HP:0000504
hpo_term: Abnormality of vision
chpo_term: 视力异常
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000568
hpo_term: Microphthalmia
chpo_term: 小眼症
id: HP:0000612
hpo_term: Iris coloboma
chpo_term: 虹膜缺损
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0001048
hpo_term: Cavernous hemangioma
chpo_term: 海绵状血管瘤
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:0001305
hpo_term: Dandy-Walker malformation
chpo_term: 第四脑室孔闭塞综合征（Dandy-Walker畸形）
id: HP:0001315
hpo_term: Reduced tendon reflexes
chpo_term: 腱反射减低
id: HP:0001347
hpo_term: Hyperreflexia
chpo_term: 反射亢进
id: HP:0001357
hpo_term: Plagiocephaly
chpo_term: 斜头畸形
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002132
hpo_term: Porencephalic cyst
chpo_term: 脑穿通性囊肿
id: HP:0002353
hpo_term: EEG abnormality
chpo_term: 脑电图异常
id: HP:0002514
hpo_term: Cerebral calcification
chpo_term: 脑钙化
id: HP:0002816
hpo_term: Genu recurvatum
chpo_term: 膝反屈
id: HP:0003422
hpo_term: Vertebral segmentation defect
chpo_term: 椎体分节缺陷
id: HP:0004422
hpo_term: Biparietal narrowing
chpo_term: 双侧顶骨部收窄
id: HP:0007360
hpo_term: Aplasia/Hypoplasia of the cerebellum
chpo_term: 小脑发育缺陷/发育不全
id: HP:0007370
hpo_term: Aplasia/Hypoplasia of the corpus callosum
chpo_term: 胼胝体发育缺陷/发育不全
id: HP:0007400
hpo_term: Irregular hyperpigmentation
chpo_term: 不规则色素沉着
id: HP:0009720
hpo_term: Adenoma sebaceum
chpo_term: 皮脂腺腺瘤
id: HP:0100555
hpo_term: Asymmetric growth
chpo_term: 不对称生长
Disease (ORPHA:2613):
Salcedo syndrome
Nail-patella-like renal disease

Associated phenotypes (HPO):
id: HP:0000083
hpo_term: Renal insufficiency
chpo_term: 肾功能不全
id: HP:0000093
hpo_term: Proteinuria
chpo_term: 蛋白尿
id: HP:0000822
hpo_term: Hypertension
chpo_term: 高血压
id: HP:0002907
hpo_term: Microscopic hematuria
chpo_term: 镜下血尿症
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0100820
hpo_term: Glomerulopathy
chpo_term: 肾小球病