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Metadata
ID DOID:0070771
PURL http://purl.obolibrary.org/obo/DOID_0070771 Copy
Name gingival fibromatosis 1
Definition A gingival fibromatosis that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22.
https://pubmed.ncbi.nlm.nih.gov/11868160/
Xrefs

MIM:135300

UMLS_CUI:C4551558

SKOS

exactMatch MIM:135300

exactMatch UMLS_CUI:C4551558

Subsets

DO_rare_slim

Parent Relationships

is_a autosomal dominant disease

is_a gingival fibromatosis

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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