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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hereditary desmoid disease
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Accession:DOID:0111349 term browser browse the term
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. (DO)
Synonyms:exact_synonym: FIF;   desmoid tumor caused by somatic mutation;   familial infiltrative fibromatosis
 primary_id: MESH:C535944
 alt_id: OMIM:135290

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hereditary desmoid disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO ClinVar Annotator: match by term: Desmoid disease, hereditary | ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation OMIM
ClinVar		 PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:2068566 More... NCBI chrNW_004955418:2,567,804...2,675,062
Ensembl chrNW_004955418:2,566,975...2,674,832 		JBrowse link
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Desmoid tumor caused by somatic mutation ClinVar PMID:9500465 PMID:9927029 PMID:10398436 PMID:10435629 PMID:10655994 More... NCBI chrNW_004955420:29,030,716...29,047,447
Ensembl chrNW_004955420:29,030,716...29,047,449 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9327
      Hereditary Neoplastic Syndromes 1154
        familial adenomatous polyposis 342
          hereditary desmoid disease 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        peripheral nervous system disease 3824
          neuropathy 3643
            neuromuscular disease 2847
              muscular disease 2000
                muscle tissue disease 1199
                  Muscle Tissue Neoplasms 174
                    musculoskeletal system benign neoplasm 117
                      connective tissue benign neoplasm 66
                        fibroma 29
                          Aggressive Fibromatosis 5
                            hereditary desmoid disease 2
paths to the root