Visualize Submit Comment

Metadata
ID	DOID:0111349
Name	hereditary desmoid disease
Definition	A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. https://www.ncbi.nlm.nih.gov/pubmed/10782927
Xrefs	MESH:C535944 OMIM:135290 UMLS_CUI:C1851124
Synonyms	familial infiltrative fibromatosis [EXACT] FIF [EXACT]
Parent Relationships	is_a syndrome is_a autosomal genetic disease