Growth Hormone Deficiency, Isolated Partial (GHDP)

Alias:
Short Stature Due to Growth Hormone Secretagogue Receptor Deficiency
Ghdp
Hormone, Growth, Deficiency, Isolated Partial
Short Stature Due to Partial Ghr Deficiency
Short Stature Due to Ghsr Deficiency
Short Stature, Idiopathic, Autosomal
Ghrelin Receptor Deficiency
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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
生长激素缺乏症,孤立部分,也称为生长激素激动受体缺乏症引起的矮小,与生长激素不敏感、部分和家族性高胆固醇血症有关。与生长激素缺乏症,孤立部分有关的重要基因是GHSR(生长激素激动受体)。附属组织包括垂体和骨骼,相关表型为延迟骨骼成熟和矮小。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
新生儿
<1/1000000
2
30
8

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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