[NTR/gene] COL1A2-related Ehlers-Danlos syndrome

[RyanFWebb]

Preferred gene-related syndrome label
COL1A2-related Ehlers-Danlos syndrome

Synonyms

Parent term (use OLS, or your favorite ontology browser)
skeletal dysplasia

Definition
Ehlers-Danlos syndrome, arthrochalasia type or combined osteogenesis and Ehlers-Danlos syndrome caused by any variant in the COL1A2 gene.

**Definition source (Please give PubMed ID, if applicable, in format PMID:#######)
On behalf of ClinGen's Skeletal Disorders Gene Curation Expert Panel.

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?
Ehlers-Danlos syndrome, arthrochalasis type (MONDO:0007525)
combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (MONDO:0030855)

Your nano-attribution (ORCID) or URL for a working group
ClinGen's Skeletal Disorders Gene Curation Expert Panel