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ONTOLOGY REPORT - ANNOTATIONS


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
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary desmoid disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Apc APC regulator of WNT signaling pathway JBrowse link 18 27,011,710 27,106,323 RGD:7240710
RGD:8554872
G Ctnnb1 catenin beta 1 JBrowse link 8 129,601,511 129,628,378 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      hereditary desmoid disease 2
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        peripheral nervous system disease 2359
          neuropathy 2174
            neuromuscular disease 1706
              muscular disease 1120
                muscle tissue disease 758
                  Muscle Tissue Neoplasms 134
                    musculoskeletal system benign neoplasm 75
                      connective tissue benign neoplasm 29
                        fibroma 19
                          Aggressive Fibromatosis 5
                            hereditary desmoid disease 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.