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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: OMIM:175510
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:3152525 PMID:3152526 PMID:12522257 PMID:14645423 PMID:14699510 PMID:15928335 PMID:16954519 PMID:17087936 PMID:17087943 PMID:17566086 PMID:22745105 PMID:25157968 PMID:25741868 PMID:28492532 NCBI chr14:35,527,926...35,581,130
Ensembl chr14:35,527,927...35,581,031
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      gastrointestinal system disease 4633
        Digestive System Neoplasms 1911
          Gastrointestinal Neoplasms 1771
            Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      nervous system disease 10903
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              muscular disease 1223
                muscle tissue disease 830
                  Muscle Tissue Neoplasms 139
                    musculoskeletal system benign neoplasm 81
                      connective tissue benign neoplasm 30
                        fibroma 20
                          Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal 1
paths to the root