Ehlers-Danlos Syndrome, Classic Type, 2 (EDSCL2)

Alias:
Ehlers-Danlos Syndrome, Type Ii
Edscl2
Ehlers Danlos Syndrome, Mild Classic Type, Formerly
Ehlers Danlos Syndrome, Mitis Type, Formerly
Ehlers-Danlos Syndrome, Type Ii, Formerly
Ehlers-Danlos Syndrome Mild Classic Type
Ehlers-Danlos, Classic Syndrome, Type 2
Ehlers-Danlos Syndrome Classic Type 2
Ehlers-Danlos Syndrome Mitis Type
Ehlers-Danlos Syndrome Type 2
Ehlers-Danlos Syndrome 2
Eds Ii, Formerly
Eds2, Formerly
Eds Ii
Eds2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ehlers-Danlos Syndrome, Classic Type, 2, also known as ehlers-danlos syndrome, type ii, is related to nail-patella syndrome and classic ehlers-danlos syndrome. An important gene associated with Ehlers-Danlos Syndrome, Classic Type, 2 is COL5A2 (Collagen Type V Alpha 2 Chain), and among its related pathways/superpathways are Nervous system development and Integrin Pathway. Affiliated tissues include skin and lung, and related phenotypes are congenital hip dislocation and talipes equinovarus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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4
30
10

Medical Symptom

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

Gene & Mutation

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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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