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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:Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal
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Accession:DOID:9008257 term browser browse the term
Synonyms:exact_synonym: GIST-plus syndrome;   GISTPS;   Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial
 primary_id: MESH:C566774
 alt_id: MIM:175510
 xref: EFO:0010279


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Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal OMIM
ClinVar		 PMID:3152525 PMID:3152526 PMID:12522257 PMID:14645423 PMID:14699510 More... NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      gastrointestinal system disease 7174
        Gastrointestinal Neoplasms 3732
          Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        peripheral nervous system disease 4263
          neuropathy 4049
            neuromuscular disease 3191
              muscular disease 2212
                muscle tissue disease 1347
                  Muscle Tissue Neoplasms 188
                    musculoskeletal system benign neoplasm 130
                      connective tissue benign neoplasm 78
                        fibroma 30
                          Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal 1
paths to the root