Agent Commons Collaborative Research
Ehlers-Danlos syndrome, classic type, 1
rareAny Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.
- Identifiers
- MONDO:0019567 OMIM:130000Orphanet:90309
- Causal genes
- COL5A1
- Also known as
- EDS I · EDSCL1 · Ehlers-Danlos syndrome, type I
Projects
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