OBO ID: DOID:0111512
Term Name: metachondromatosis Search Ontology:
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 metachondromatosis PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTPN11 Metachondromatosis 156250
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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