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RGD uses the Human Disease Ontology (DO, 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
For additional species annotation, visit the Alliance of Genome Resources.

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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 OMIM:135290
PMID:1316610 PMID:1324223 PMID:1338764 PMID:1944466 PMID:8162022 PMID:8187091 PMID:8381579 PMID:8381580 PMID:8730280 PMID:8844222 PMID:8940264 PMID:8990002 PMID:9342373 PMID:9664575 PMID:9824584 PMID:9950360 PMID:10077730 PMID:10083733 PMID:10094547 PMID:10470088 PMID:10713886 PMID:10768871 PMID:10782927 PMID:11748858 PMID:11933206 PMID:12007223 PMID:12034871 PMID:12173026 PMID:12357334 PMID:12901799 PMID:15024739 PMID:15108286 PMID:15108288 PMID:15300853 PMID:15311282 PMID:15459959 PMID:15857185 PMID:15951963 PMID:16088911 PMID:16134147 PMID:16292097 PMID:16317745 PMID:16461775 PMID:17293347 PMID:17411426 PMID:17489848 PMID:17785554 PMID:17963004 PMID:18199528 PMID:18433509 PMID:19029688 PMID:19444466 PMID:19531215 PMID:19793053 PMID:20223039 PMID:20301519 PMID:20649969 PMID:20685668 PMID:20924072 PMID:21110124 PMID:21859464 PMID:21901162 PMID:22135120 PMID:22431159 PMID:22703879 PMID:23159591 PMID:23970361 PMID:24033266 PMID:24123366 PMID:24448499 PMID:24573554 PMID:24599579 PMID:24728327 PMID:24735542 PMID:25186627 PMID:25203624 PMID:25479140 PMID:25525159 PMID:25590978 PMID:25637381 PMID:25741868 PMID:25801821 PMID:25925381 PMID:25980754 PMID:25992589 PMID:26138249 PMID:26300997 PMID:26320869 PMID:26446593 PMID:26467025 PMID:26493165 PMID:26580448 PMID:26613750 PMID:26681312 PMID:26845104 PMID:26976419 PMID:27081525 PMID:27150160 PMID:27153395 PMID:27600092 PMID:27878467 PMID:27978560 PMID:28135145 PMID:28492532 PMID:28608266 PMID:28873162 PMID:29122597 PMID:29641532 PMID:29684080 PMID:29915797 PMID:29945567 PMID:30267214 PMID:30374176 PMID:30613976 PMID:30897307 PMID:31054147 PMID:31428572 NCBI chr18:27,011,710...27,106,323
Ensembl chr18:27,047,382...27,105,531
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 PMID:26619011 PMID:26822237 NCBI chr 8:129,601,511...129,628,378
Ensembl chr 8:129,617,812...129,627,372
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      hereditary desmoid disease 2
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        peripheral nervous system disease 2431
          neuropathy 2235
            neuromuscular disease 1779
              muscular disease 1190
                muscle tissue disease 813
                  Muscle Tissue Neoplasms 139
                    musculoskeletal system benign neoplasm 81
                      connective tissue benign neoplasm 29
                        fibroma 19
                          Aggressive Fibromatosis 5
                            hereditary desmoid disease 2
paths to the root