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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:pituitary adenoma 5
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Accession:DOID:0112008 term browser browse the term
Definition:A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. (DO)
Synonyms:exact_synonym: PITA5;   pituitary adenoma 5, multiple types
 primary_id: OMIM:617540

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pituitary adenoma 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIP aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:6,774,648...6,783,095
Ensembl chr 1:6,773,364...6,783,318 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:16199547 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: PITUITARY ADENOMA 5, MULTIPLE TYPES | ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types OMIM
ClinVar		 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:9,423,885...9,431,123
Ensembl chr 1:9,423,917...9,431,104 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Pituitary adenoma 5, multiple types ClinVar PMID:25741868 NCBI chr 9:59,516,012...59,538,628
Ensembl chr 9:59,516,073...59,542,242 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    disease of cellular proliferation 7181
      benign neoplasm 2103
        cell type benign neoplasm 1853
          adenoma 656
            pituitary adenoma 23
              pituitary adenoma 5 5
Path 2
Term Annotations click to browse term
  disease 15274
    disease of anatomical entity 14909
      nervous system disease 13001
        Nervous System Neoplasms 1552
          Central Nervous System Neoplasms 1386
            central nervous system cancer 751
              brain cancer 738
                supratentorial cancer 475
                  diencephalic neoplasm 38
                    hypothalamic neoplasm 38
                      Pituitary Neoplasms 36
                        pituitary gland benign neoplasm 23
                          pituitary adenoma 23
                            pituitary adenoma 5 5
paths to the root