/Ehlers-Danlos syndrome, classic type, 2

Ehlers-Danlos syndrome, classic type, 2

Rare Disease

MONDO:0019568

Also Known As

EDS IIEDSCL2Ehlers-Danlos syndrome, classic type, 2EDS II, formerlyEhlers Danlos syndrome, mild Classic typeEhlers Danlos syndrome, mild Classic type, formerlyEhlers Danlos syndrome, mitis typeEhlers Danlos syndrome, mitis type, formerlyEhlers-Danlos syndrome, type IiEhlers-Danlos syndrome, type Ii, formerly

Definition

Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene.

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Comprehensive, easy-to-understand information about this condition

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Associated Genes

COL5A2 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:130010 ↗

Orphanet

Orphanet:90318 ↗

Related Diseases

Ehlers-Danlos syndrome, classic type, 1

MONDO:0019567

Rare

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