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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

MIM:228550

NCI:C176943

UMLS_CUI:C4551572

SKOS

exactMatch UMLS_CUI:C4551572

exactMatch NCI:C176943

exactMatch MIM:228550

Subsets

NCIthesaurus

Parent Relationships

is_a infantile myofibromatosis

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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