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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

MIM:615293

NCI:C176944

UMLS_CUI:C3809084

SKOS

exactMatch NCI:C176944

exactMatch UMLS_CUI:C3809084

exactMatch MIM:615293

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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