Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111512 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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