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;

UMLS CUI

C0432214;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Namaqualand hip dysplasia (disorder) [SNOMED CT concept]
- Osteoarthritis with mild chondrodysplasia [OMIM Phenotype]
- osteoarthritis with mild chondrodysplasia [MeSH Supplementary Concept]
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 :

recommendations
documents concerning education
documents for patients