hereditary desmoid disease

Term ID

DOID:0111349

Synonyms

• familial infiltrative fibromatosis
• FIF

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

References

• MESH:C535944
• OMIM:135290
• UMLS_CUI:C1851124

Ontology

Human Disease   ( DOID:0111349 )