Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities (SAMS)

Alias:
Short Stature-Auditory Canal Atresia-Mandibular Hypoplasia-Skeletal Anomalies Syndrome
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
Sams
Stature, Short, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
Sams Syndrome
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
短身高、听道闭锁、下颌发育不全和骨骼异常,又称短身高-听道闭锁-下颌发育不全-骨骼异常综合征,与脊髓动静脉畸形和融合有关。与短身高、听道闭锁、下颌发育不全和骨骼异常相关的基因是GSC(Goosecoid Homeobox)。附属组织包括骨和睾丸。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
4
3

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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