COL1-Related Connective Tissue Disorder

Preferred Label : COL1-Related Connective Tissue Disorder;

NCIt synonyms : COL1A1 Associated Connective Tissue Disorder;

NCIt definition : A term that refers to a group of hereditary connective tissue disorders caused by mutations in type I procollagen genes (COL1A1 and COL1A2 genes). This category includes osteogenesis imperfecta, specific types of Ehlers-Danlos syndrome, and COL1-related overlapping disorder.;

Details

Origin ID

C75471;

UMLS CUI

C2698737;

Has associated anatomic sites
- Bone [NCIt concept]
- Connective Tissue [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Connective Tissue [NCIt concept]
disease_may_have_molecular_abnormality
- COL1A1 Gene Mutation [NCIt concept]
- COL1A2 Gene Mutation [NCIt concept]
related_to_genetic_biomarker
- COL1A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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