| Metadata | |
|---|---|
| ID | DOID:0070666 |
| Name | infantile myofibromatosis 1 |
| Definition | An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the PDGFRB gene on chromosome 5q32. https://pmc.ncbi.nlm.nih.gov/articles/PMC3675260/, https://pmc.ncbi.nlm.nih.gov/articles/PMC3675240/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C4551572 exactMatch NCI:C176943 exactMatch MIM:228550 |
| Subsets |
NCIthesaurus |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |