Disease (OMIM:123000):
Craniometaphyseal dysplasia
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT

Associated phenotypes (HPO):
id: HP:0031428
hpo_term: Increased circulating osteocalcin level
chpo_term: 循环骨钙素水平升高
id: HP:0005017
hpo_term: Polyarticular chondrocalcinosis
chpo_term: 多关节软骨钙质沉着病
id: HP:0000365
hpo_term: Hearing impairment
chpo_term: 听力障碍
id: HP:0004322
hpo_term: Short stature
chpo_term: 身材矮小
id: HP:0003155
hpo_term: Elevated circulating alkaline phosphatase concentration
chpo_term: 碱性磷酸酶升高
id: HP:0000680
hpo_term: Delayed eruption of primary teeth
chpo_term: 乳牙萌出延迟
id: HP:0003593
hpo_term: Infantile onset
chpo_term: 婴儿期发病
id: HP:0000360
hpo_term: Tinnitus
chpo_term: 耳鸣
id: HP:0005450
hpo_term: Calvarial osteosclerosis
chpo_term: 颅骨硬化
id: HP:0003072
hpo_term: Hypercalcemia
chpo_term: 高钙血症
id: HP:0000639
hpo_term: Nystagmus
chpo_term: 眼球震颤
id: HP:0011463
hpo_term: Childhood onset
chpo_term: 儿童期发病
id: HP:0011386
hpo_term: Narrow internal auditory canal
chpo_term: 内听道狭窄
id: HP:0000316
hpo_term: Hypertelorism
chpo_term: 眼距过宽
id: HP:0000678
hpo_term: Dental crowding
chpo_term: 牙列拥挤
id: HP:0000238
hpo_term: Hydrocephalus
chpo_term: 脑积水
id: HP:0004437
hpo_term: Cranial hyperostosis
chpo_term: 颅骨骨质增生
id: HP:0000358
hpo_term: Posteriorly rotated ears
chpo_term: 后旋耳
id: HP:0000692
hpo_term: Tooth malposition
chpo_term: 牙列不齐
id: HP:0000452
hpo_term: Choanal stenosis
chpo_term: 鼻后孔狭窄
id: HP:0011968
hpo_term: Feeding difficulties
chpo_term: 喂养困难
id: HP:0000925
hpo_term: Abnormality of the vertebral column
chpo_term: 脊柱异常
id: HP:0006384
hpo_term: Club-shaped distal femur
chpo_term: 棒状股骨远端
id: HP:0025405
hpo_term: Visual fixation instability
chpo_term: 固视不稳定
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:0004407
hpo_term: Bony paranasal bossing
chpo_term: 骨性鼻翼突起
id: HP:0000006
hpo_term: Autosomal dominant inheritance
chpo_term: 常染色体显性遗传
id: HP:0002148
hpo_term: Hypophosphatemia
chpo_term: 低磷血症
id: HP:0000369
hpo_term: Low-set ears
chpo_term: 低位耳
id: HP:0003015
hpo_term: Flared metaphysis
chpo_term: 喇叭状干骺端
id: HP:0003577
hpo_term: Congenital onset
chpo_term: 先天发病
id: HP:0010628
hpo_term: Facial palsy
chpo_term: 面部神经麻痹
id: HP:0003016
hpo_term: Metaphyseal widening
chpo_term: 干骺端增宽
id: HP:0002684
hpo_term: Thickened calvaria
chpo_term: 颅骨过厚
id: HP:0009085
hpo_term: Alveolar ridge overgrowth
chpo_term: 牙槽嵴增生
id: HP:0012370
hpo_term: Prominence of the zygomatic bone
chpo_term: 颧骨突出
id: HP:0005906
hpo_term: Delayed pneumatization of the mastoid process
chpo_term: 乳突气腔形成延迟
id: HP:0000337
hpo_term: Broad forehead
chpo_term: 宽前额
id: HP:0001742
hpo_term: Nasal congestion
chpo_term: 鼻塞
id: HP:0000696
hpo_term: Delayed eruption of permanent teeth
chpo_term: 恒牙萌出延迟
id: HP:0000212
hpo_term: Gingival overgrowth
chpo_term: 牙龈增生
id: HP:0000256
hpo_term: Macrocephaly
chpo_term: 巨头畸形
id: HP:0000410
hpo_term: Mixed hearing impairment
chpo_term: 混合性听力损失
id: HP:0002753
hpo_term: Thin bony cortex
chpo_term: 骨皮质薄
id: HP:0004975
hpo_term: Erlenmeyer flask deformity of the femurs
chpo_term: 股骨锥形瓶状变形
id: HP:0000577
hpo_term: Exotropia
chpo_term: 外斜视
id: HP:6001071
id: HP:0002677
hpo_term: Small foramen magnum
chpo_term: 枕大孔狭窄
id: HP:0005645
hpo_term: Intervertebral disk calcification
chpo_term: 椎间盘钙化
id: HP:0003621
hpo_term: Juvenile onset
chpo_term: 青少年期发病
id: HP:0002694
hpo_term: Sclerosis of skull base
chpo_term: 颅底硬化
id: HP:0000431
hpo_term: Wide nasal bridge
chpo_term: 宽鼻梁
id: HP:0000276
hpo_term: Long face
chpo_term: 长脸
id: HP:0011225
hpo_term: Epiblepharon
chpo_term: 睑赘皮
id: HP:0000506
hpo_term: Telecanthus
chpo_term: 内眦距过宽
id: HP:0000426
hpo_term: Prominent nasal bridge
chpo_term: 鼻梁突出
id: HP:0000867
hpo_term: Secondary hyperparathyroidism
chpo_term: 继发性甲状旁腺功能亢进症
id: HP:0002007
hpo_term: Frontal bossing
chpo_term: 前额突出
id: HP:0000303
hpo_term: Mandibular prognathia
chpo_term: 下颌前突
id: HP:0002644
hpo_term: Abnormal pelvic girdle bone morphology
chpo_term: 骨盆带骨形态异常