metachondromatosis

Term ID

DOID:0111512

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/20577567

References

• GARD:3560
• MESH:C562938
• OMIM:156250
• ORDO:2499
• SNOMEDCT_US_2023_03_01:205481009
• UMLS_CUI:C0410530

Ontology

Human Disease   ( DOID:0111512 )