Term Name: metachondromatosis
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.
Ontology: Human Disease [DOID:0111512]   ( DOID:0111512 )

Relationships
is a type of: autosomal dominant disease osteochondrodysplasia