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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
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
OMIM
ClinVar
PMID:1316610, PMID:1324223, PMID:1338764, PMID:1944466, PMID:8162022, PMID:8187091, PMID:8381579, PMID:8381580, PMID:8844222, PMID:8940264, PMID:8990002, PMID:9342373, PMID:9664575, 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:15459959, PMID:15857185, PMID:15951963, PMID:16088911, PMID:16134147, PMID:16292097, PMID:16317745, PMID:16461775, 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: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:27150160, PMID:27153395, PMID:27600092, PMID:27878467, PMID:27978560, PMID:28135145, PMID:28492532, PMID:28608266, PMID:28873162, PMID:29641532, PMID:29684080, PMID:29945567, PMID:30374176, 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 16096
    syndrome 6993
      hereditary desmoid disease 2
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            neuromuscular disease 1774
              muscular disease 1196
                muscle tissue disease 809
                  Muscle Tissue Neoplasms 134
                    musculoskeletal system benign neoplasm 75
                      connective tissue benign neoplasm 30
                        fibroma 20
                          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.