Disease (OMIM:248370):
Mandibuloacral dysplasia
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY

Associated phenotypes (HPO):
id: HP:0000287
hpo_term: Increased facial adipose tissue
chpo_term: 面部脂肪组织增多
id: HP:0000320
hpo_term: Bird-like facies
chpo_term: 鸟样面相
id: HP:0003077
hpo_term: Hyperlipidemia
chpo_term: 高脂血症
id: HP:0001371
hpo_term: Flexion contracture
chpo_term: 屈曲挛缩
id: HP:0003074
hpo_term: Hyperglycemia
chpo_term: 高血糖
id: HP:0001805
hpo_term: Onychogryposis
chpo_term: 厚甲
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0008897
hpo_term: Postnatal growth retardation
chpo_term: 出生后生长迟缓
id: HP:0000956
hpo_term: Acanthosis nigricans
chpo_term: 黑棘皮病
id: HP:0200021
hpo_term: Down-sloping shoulders
chpo_term: 肩下斜
id: HP:0000831
hpo_term: Insulin-resistant diabetes mellitus
chpo_term: 胰岛素抵抗性糖尿病
id: HP:0004334
hpo_term: Dermal atrophy
chpo_term: 皮肤萎缩
id: HP:0003761
hpo_term: Calcinosis
chpo_term: 钙质沉着
id: HP:0001387
hpo_term: Joint stiffness
chpo_term: 关节僵硬
id: HP:0003124
hpo_term: Hypercholesterolemia
chpo_term: 高胆固醇血症
id: HP:0002673
hpo_term: Coxa valga
chpo_term: 髋外翻
id: HP:0000293
hpo_term: Full cheeks
chpo_term: 脸颊丰满
id: HP:0040270
hpo_term: Impaired glucose tolerance
chpo_term: 葡萄糖耐量下降
id: HP:0012385
hpo_term: Camptodactyly
chpo_term: 指（趾）关节屈曲
id: HP:0000007
hpo_term: Autosomal recessive inheritance
chpo_term: 常染色体隐性遗传
id: HP:0003758
hpo_term: Reduced subcutaneous adipose tissue
chpo_term: 皮下脂肪组织减少
id: HP:0003635
hpo_term: Loss of subcutaneous adipose tissue in limbs
chpo_term: 四肢皮下脂肪组织丢失
id: HP:0000444
hpo_term: Convex nasal ridge
chpo_term: 凸鼻嵴
id: HP:0000520
hpo_term: Proptosis
chpo_term: 眼球突出
id: HP:0000685
hpo_term: Hypoplasia of teeth
chpo_term: 牙齿发育不全
id: HP:0002987
hpo_term: Elbow flexion contracture
chpo_term: 肘屈曲挛缩
id: HP:0000842
hpo_term: Hyperinsulinemia
chpo_term: 高胰岛素血症
id: HP:0001870
hpo_term: Acroosteolysis of distal phalanges (feet)
chpo_term: 远节趾骨肢端溶骨
id: HP:0009839
hpo_term: Osteolytic defects of the distal phalanges of the hand
chpo_term: 手末节指骨溶骨性缺陷
id: HP:0001596
hpo_term: Alopecia
chpo_term: 脱发
id: HP:0002240
hpo_term: Hepatomegaly
chpo_term: 肝脏肿大
id: HP:0001070
hpo_term: Mottled pigmentation
chpo_term: 斑驳病
id: HP:0000418
hpo_term: Narrow nasal ridge
chpo_term: 鼻脊狭窄
id: HP:0000938
hpo_term: Osteopenia
chpo_term: 骨质减少
id: HP:0009882
hpo_term: Short distal phalanx of finger
chpo_term: 末节指骨短
id: HP:0009125
hpo_term: Lipodystrophy
chpo_term: 脂肪营养不良
id: HP:0000218
hpo_term: High palate
chpo_term: 高腭
id: HP:0000894
hpo_term: Short clavicles
chpo_term: 短锁骨
id: HP:0001029
hpo_term: Poikiloderma
chpo_term: 皮肤异色症
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0000270
hpo_term: Delayed cranial suture closure
chpo_term: 颅缝闭合延迟
id: HP:0006480
hpo_term: Premature loss of teeth
chpo_term: 牙齿过早脱落
id: HP:0000905
hpo_term: Progressive clavicular acroosteolysis
chpo_term: 锁骨远端进行性骨吸收
id: HP:0002209
hpo_term: Sparse scalp hair
chpo_term: 脱发
id: HP:0002645
hpo_term: Wormian bones
chpo_term: 缝间骨
id: HP:0001510
hpo_term: Growth delay
chpo_term: 生长延迟
id: HP:0000347
hpo_term: Micrognathia
chpo_term: 小下颌
id: HP:0000468
hpo_term: Increased adipose tissue around the neck
chpo_term: 颈周脂肪组织增多