Osteoarthritis with Mild Chondrodysplasia

Preferred Label : Osteoarthritis with Mild Chondrodysplasia;

NCIt synonyms : OSCDP;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by osteoarthritis and mild chondrodysplasia.;

Details

Origin ID

C202115;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- COL2A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

All resources
or only the major
or use the search engine

recommendations
documents concerning education
documents for patients