COL1A2-related Ehlers-Danlos syndrome

Findings

No curated finding names COL1A2-related Ehlers-Danlos syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• Ehlers-Danlos syndrome

Narrower terms (3)

• combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2
• Ehlers-Danlos syndrome, arthrochalasia type, 2
• Ehlers-Danlos syndrome, cardiac valvular type