COL1A1 Associated Connective Tissue Disorder

Preferred Label : COL1A1 Associated Connective Tissue Disorder;

NCIt definition : A group of connective tissue disorder caused by mutations in the COL1A1 gene mapped to chromosome 17q21. It includes the Ehlers-Danlos syndrome, osteogenesis imperfecta, and osteoporosis.;

Details

Origin ID

C75471;

UMLS CUI

C2698737;

Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
related_to_genetic_biomarker
- COL1A1 Gene [NCIt concept]

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