COMP wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human COMP wild-type allele is located in the vicinity of 19p13.1 and is approximately 9 kb in length. This allele, which encodes cartilage oligomeric matrix protein, is involved in cartilage structural integrity. Mutation of the gene is associated with pseudoachondroplasia and multiple epiphyseal dysplasia 1.
**Synonyms:** - Cartilage Oligomeric Matrix Protein (Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple) Gene - Cartilage Oligomeric Matrix Protein wt Allele - Cartilage Oligomeric Matrix Protein(Pseudoachondroplasia, Epiphyseal Dysplasia 1, Multiple) Gene - EDM1 - EPD1 - MED - PSACH - Pseudoachondroplasia (Epiphyseal Dysplasia 1, Multiple) Gene - THBS5
/api/v1/systems/nci_thesaurus/nodes/C131263Hierarchy Explorer
Cross-system equivalences0
No cross-system equivalences mapped for this node.