OBO ID: DOID:0111512 |
Term Name: | metachondromatosis | Search Ontology: | |
---|---|---|---|
Synonyms: |
|
||
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 ) |
OTHER metachondromatosis PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
Your Input Welcome
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if
additional information is required.
Oops. Something went wrong. Please try again later.