Disease (OMIM:101800):
Acrodysostosis 1, with or without hormone resistance
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE

Associated phenotypes (HPO):
id: HP:0000286
hpo_term: Epicanthus
chpo_term: 内眦赘皮
id: HP:0000684
hpo_term: Delayed eruption of teeth
chpo_term: 牙齿萌出延迟
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0000486
hpo_term: Strabismus
chpo_term: 斜视
id: HP:0001530
hpo_term: Mild postnatal growth retardation
chpo_term: 轻度产后发育迟缓
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:0010049
hpo_term: Short metacarpal
chpo_term: 掌骨短
id: HP:0008450
hpo_term: Narrow vertebral interpedicular distance
chpo_term: 椎弓根间隙变窄
id: HP:0011342
hpo_term: Mild global developmental delay
chpo_term: 轻度全面发育延迟
id: HP:0000635
hpo_term: Blue irides
chpo_term: 蓝色虹膜
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0001847
hpo_term: Long hallux
chpo_term: 长拇趾
id: HP:0001169
hpo_term: Broad palm
chpo_term: 宽掌
id: HP:0001249
hpo_term: Intellectual disability
chpo_term: 智力障碍
id: HP:0000995
hpo_term: Melanocytic nevus
chpo_term: 黑素细胞痣
id: HP:0003165
hpo_term: Elevated circulating parathyroid hormone level
chpo_term: 血甲状旁腺激素水平升高
id: HP:0011800
hpo_term: Midface retrusion
chpo_term: 面中部后缩
id: HP:0004490
hpo_term: Calvarial hyperostosis
chpo_term: 颅骨骨质增生
id: HP:0003083
hpo_term: Dislocated radial head
chpo_term: 桡骨头脱位
id: HP:0033579
hpo_term: Decreased growth hormone responses to growth hormone-releasing hormone challenge
chpo_term: 生长激素释放激素激发后生长激素分泌不足
id: HP:0002905
hpo_term: Hyperphosphatemia
chpo_term: 高磷血症
id: HP:0000327
hpo_term: Hypoplasia of the maxilla
chpo_term: 上颌骨发育不全
id: HP:0000689
hpo_term: Dental malocclusion
chpo_term: 牙齿错位咬合
id: HP:0000648
hpo_term: Optic atrophy
chpo_term: 视神经萎缩
id: HP:0005616
hpo_term: Accelerated skeletal maturation
chpo_term: 骨骼成熟加速
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0000248
hpo_term: Brachycephaly
chpo_term: 短头畸形
id: HP:0000463
hpo_term: Anteverted nares
chpo_term: 鼻孔前翻
id: HP:0001156
hpo_term: Brachydactyly
chpo_term: 短指（趾）
id: HP:0010743
hpo_term: Short metatarsal
chpo_term: 短跖骨
id: HP:0000858
hpo_term: Irregular menstruation
chpo_term: 月经不调
id: HP:0010230
hpo_term: Cone-shaped epiphyses of the phalanges of the hand
chpo_term: 指骨锥形骨骺
id: HP:0008873
hpo_term: Disproportionate short-limb short stature
chpo_term: 不相称的短肢矮小
id: HP:0008479
hpo_term: Hypoplastic vertebral bodies
chpo_term: 椎体发育不良
id: HP:0003528
hpo_term: Elevated calcitonin
chpo_term: 降钙素升高
id: HP:0000455
hpo_term: Broad nasal tip
chpo_term: 宽鼻尖
id: HP:0000851
hpo_term: Congenital hypothyroidism
chpo_term: 先天性甲状腺功能减退症
id: HP:0000135
hpo_term: Hypogonadism
chpo_term: 性腺功能减退症
id: HP:0009803
hpo_term: Short phalanx of finger
chpo_term: 指骨短
id: HP:0002650
hpo_term: Scoliosis
chpo_term: 脊柱侧弯
id: HP:0004279
hpo_term: Short palm
chpo_term: 短掌
id: HP:0005280
hpo_term: Depressed nasal bridge
chpo_term: 鼻梁塌陷
id: HP:0010655
hpo_term: Epiphyseal stippling
chpo_term: 骨骺点状钙化
id: HP:0001518
hpo_term: Small for gestational age
chpo_term: 小于胎龄儿
id: HP:0000668
hpo_term: Hypodontia
chpo_term: 缺牙症
id: HP:0002925
hpo_term: Elevated circulating thyroid-stimulating hormone concentration
chpo_term: 血液促甲状腺激素增多
id: HP:0001511
hpo_term: Intrauterine growth retardation
chpo_term: 胎儿宫内发育迟缓
id: HP:0003416
hpo_term: Spinal canal stenosis
chpo_term: 椎管狭窄
id: HP:0000028
hpo_term: Cryptorchidism
chpo_term: 隐睾
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0005756
hpo_term: Neonatal epiphyseal stippling
chpo_term: 新生儿骨骺点状钙化