Ehlers-Danlos syndrome, classic type, 1

Definition

Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene.

Also known as EDS I, EDSCL1, Ehlers-Danlos syndrome, classic type, 1, Ehlers-Danlos syndrome, type I — per MONDO

Also identified as

• DOID 14720 per MONDO
• MESH C536194 per MONDO
• NCIT C125696 per MONDO
• OMIM 130000 per MONDO
• Orphanet 90309 per MONDO
• SCTID 83470009 per MONDO
• UMLS C0268335 per MONDO