Epiphyseal Dysplasia, Multiple, 1 (EDM1)

Alias:
Edm1
Multiple Epiphyseal Dysplasia Type 1
Multiple Epiphyseal Dysplasia 1
Polyepiphyseal Dysplasia Type 1
Med1
Multiple Epiphyseal Dysplasia, Comp-Related
Multiple Epiphyseal Dysplasia Comp-Related
Dysplasia, Epiphyseal, Multiple, Type 1
Epiphyseal Dysplasia, Multiple 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Epiphyseal Dysplasia, Multiple, 1, also known as edm1, is related to epiphyseal dysplasia, multiple, 3 and multiple epiphyseal dysplasia. An important gene associated with Epiphyseal Dysplasia, Multiple, 1 is COMP (Cartilage Oligomeric Matrix Protein), and among its related pathways/superpathways are Phospholipase-C Pathway and PI3K-Akt signaling pathway. Affiliated tissues include bone and breast, and related phenotypes are gait disturbance and hip dysplasia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
18
300
47

Medical Symptom

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

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

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PMID
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IF
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