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metachondromatosis
Summary
- Synonym
-
- METCDS
- Definition
- An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13.
- Super Class
- autosomal dominant disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0111512
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P16444 | Dipeptidase 1 | |
| Q16394 | Exostosin-1 | |
| Q93063 | Exostosin-2 |
