| Metadata | |
|---|---|
| ID | DOID:0070667 |
| Name | infantile myofibromatosis 2 |
| Definition | An infantile myofibromatosis that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. https://pmc.ncbi.nlm.nih.gov/articles/PMC3675260/ |
| Xrefs | |
| SKOS |
exactMatch NCI:C176944 exactMatch UMLS_CUI:C3809084 exactMatch MIM:615293 |
| Subsets |
NCIthesaurus |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |