Disease (ORPHA:99646):
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
MC-HGA

Associated phenotypes (HPO):
id: HP:0012321
hpo_term: D-2-hydroxyglutaric aciduria
chpo_term: D-2-羟基戊二酸尿症
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0003025
hpo_term: Metaphyseal irregularity
chpo_term: 干骺端不规则
id: HP:0005701
hpo_term: Multiple enchondromatosis
chpo_term: 多发性内生软骨瘤
id: HP:0005868
hpo_term: Metaphyseal enchondromatosis
chpo_term: 干骺端软骨瘤病
id: HP:0011849
hpo_term: Abnormal bone ossification
chpo_term: 骨化异常
id: HP:0000926
hpo_term: Platyspondyly
chpo_term: 扁平椎
id: HP:0001367
hpo_term: Abnormal joint morphology
chpo_term: 关节形态异常
id: HP:0001508
hpo_term: Failure to thrive
chpo_term: 发育迟滞
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003021
hpo_term: Metaphyseal cupping
chpo_term: 干骺端内陷
id: HP:0003301
hpo_term: Irregular vertebral endplates
chpo_term: 椎体终板不规则
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0030294
hpo_term: Metaphyseal chondromatosis of tibia
chpo_term: 胫骨干骺端软骨瘤病
id: HP:0030295
hpo_term: Metaphyseal chondromatosis of femur
chpo_term: 股骨干骺端软骨瘤病
id: HP:0030296
hpo_term: Metaphyseal chondromatosis of radius
chpo_term: 桡骨干骺端软骨瘤病
id: HP:0030297
hpo_term: Metaphyseal chondromatosis of ulna
chpo_term: 尺骨干骺端软骨瘤病
id: HP:0000122
hpo_term: Unilateral renal agenesis
chpo_term: 单侧肾缺如
id: HP:0000233
hpo_term: Thin vermilion border
chpo_term: 下红唇薄
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000278
hpo_term: Retrognathia
chpo_term: 下颌后缩
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0000343
hpo_term: Long philtrum
chpo_term: 长人中
id: HP:0000400
hpo_term: Macrotia
chpo_term: 巨耳畸形
id: HP:0000470
hpo_term: Short neck
chpo_term: 短颈
id: HP:0000494
hpo_term: Downslanted palpebral fissures
chpo_term: 下斜睑裂
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000519
hpo_term: Developmental cataract
chpo_term: 发育性白内障
id: HP:0000666
hpo_term: Horizontal nystagmus
chpo_term: 水平眼震
id: HP:0000914
hpo_term: Shield chest
chpo_term: 盾状胸
id: HP:0000958
hpo_term: Dry skin
chpo_term: 干性皮肤
id: HP:0001048
hpo_term: Cavernous hemangioma
chpo_term: 海绵状血管瘤
id: HP:0001263
hpo_term: Global developmental delay
chpo_term: 全面发育迟缓
id: HP:0001270
hpo_term: Motor delay
chpo_term: 运动发育迟缓
id: HP:0001290
hpo_term: Generalized hypotonia
chpo_term: 全身性肌张力减低
id: HP:0001601
hpo_term: Laryngomalacia
chpo_term: 喉软骨软化
id: HP:0001684
hpo_term: Secundum atrial septal defect
chpo_term: 第二房间隔缺损
id: HP:0002033
hpo_term: Poor suck
chpo_term: 吸吮无力
id: HP:0002098
hpo_term: Respiratory distress
chpo_term: 呼吸窘迫
id: HP:0002119
hpo_term: Ventriculomegaly
chpo_term: 巨脑室
id: HP:0002453
hpo_term: Abnormal globus pallidus morphology
chpo_term: 苍白球形态异常
id: HP:0002515
hpo_term: Waddling gait
chpo_term: 蹒跚步态
id: HP:0002828
hpo_term: Multiple joint contractures
chpo_term: 多发性关节挛缩
id: HP:0002970
hpo_term: Genu varum
chpo_term: 膝内翻
id: HP:0003029
hpo_term: Enlargement of the ankles
chpo_term: 脚踝膨大
id: HP:0003796
hpo_term: Irregular iliac crest
chpo_term: 髂嵴不规则
id: HP:0004242
hpo_term: Broad carpal bones
chpo_term: 腕骨变宽
id: HP:0004626
hpo_term: Lumbar scoliosis
chpo_term: 腰椎侧凸
id: HP:0004820
hpo_term: Acute myelomonocytic leukemia
chpo_term: 急性粒单核细胞白血病
id: HP:0004948
hpo_term: Vascular tortuosity
chpo_term: 血管迂曲
id: HP:0006532
hpo_term: Recurrent pneumonia
chpo_term: 反复肺炎
id: HP:0006610
hpo_term: Wide intermamillary distance
chpo_term: 乳头间距宽
id: HP:0007033
hpo_term: Cerebellar dysplasia
chpo_term: 小脑发育不良
id: HP:0007361
hpo_term: Abnormal pons morphology
chpo_term: 桥脑形态异常
id: HP:0007375
hpo_term: Abnormal septum pellucidum morphology
chpo_term: 透明隔形态异常
id: HP:0007486
hpo_term: Cavernous hemangioma of the face
chpo_term: 面部海绵状血管瘤
id: HP:0010576
hpo_term: Intracranial cystic lesion
chpo_term: 颅内囊性病变
id: HP:0011470
hpo_term: Nasogastric tube feeding in infancy
chpo_term: 婴儿期鼻胃管饲
id: HP:0011681
hpo_term: Subarterial ventricular septal defect
chpo_term: 动脉下室间隔缺损
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0012448
hpo_term: Delayed myelination
chpo_term: 髓鞘化延迟
id: HP:0012762
hpo_term: Cerebral white matter atrophy
chpo_term: 脑白质萎缩
id: HP:0012766
hpo_term: Widened cerebral subarachnoid space
chpo_term: 脑蛛网膜下腔扩大
id: HP:0025473
hpo_term: Hyperpigmented papule
chpo_term: 色素沉着性丘疹
id: HP:0030866
hpo_term: Large knee
chpo_term: 膝关节偏大
id: HP:0100255
hpo_term: Metaphyseal dysplasia
chpo_term: 干骺端发育不良
id: HP:0100764
hpo_term: Lymphangioma
chpo_term: 淋巴管瘤
id: HP:0100806
hpo_term: Sepsis
chpo_term: 脓毒症
id: HP:0200035
hpo_term: Skin plaque
chpo_term: 皮肤斑块