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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:Islet Cell Tumor Syndrome
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Accession:DOID:9004478 term browser browse the term
Synonyms:exact_synonym: Bilateral pheochromocytoma and islet cell adenoma of the pancreas;   Chromaffinoma;   Familial islet cell tumors;   Familial pheochromocytoma
 primary_id: MESH:C531777


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Islet Cell Tumor Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FNTB farnesyltransferase, CAAX box, beta ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar NCBI chr 7:89,052,451...89,131,075
Ensembl chr 7:89,052,507...89,131,072 		JBrowse link
G MAX MYC associated factor X ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:21685915 PMID:22452945 PMID:23666964 PMID:25741868 PMID:26070438 More... NCBI chr 7:89,142,966...89,168,265
Ensembl chr 7:89,142,969...89,168,201 		JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:23342407 PMID:24033266 More... NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		JBrowse link
G SDHAF2 succinate dehydrogenase complex assembly factor 2 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:28492532 NCBI chr 2:10,074,965...10,088,185
Ensembl chr 2:10,072,920...10,088,117 		JBrowse link
G SDHB succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:490809 PMID:2308387 PMID:9509062 PMID:9536098 PMID:11404820 More... NCBI chr 6:75,648,362...75,678,111
Ensembl chr 6:75,648,215...75,678,378 		JBrowse link
G SDHC succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974 PMID:17468193 PMID:19454582 PMID:22517554 PMID:22703879 More... NCBI chr 4:89,135,410...89,169,164
Ensembl chr 4:89,130,379...89,169,118 		JBrowse link
G SDHD succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 9:39,790,654...39,803,602
Ensembl chr 9:39,790,595...39,803,950 		JBrowse link
G TMEM127 transmembrane protein 127 ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:9536098 PMID:16199547 PMID:16266984 PMID:17576681 PMID:20154675 More... NCBI chr 3:46,966,858...47,017,659
Ensembl chr 3:46,966,892...46,978,810 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:7563486 PMID:7660122 PMID:7728151 PMID:7784063 PMID:7987306 More... NCBI chr13:66,334,535...66,342,401
Ensembl chr13:66,334,591...66,342,654 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15394
    syndrome 10321
      Islet Cell Tumor Syndrome 10
Path 2
Term Annotations click to browse term
  disease 15394
    disease of cellular proliferation 7397
      Neoplasms by Site 6883
        organ system cancer 5244
          nervous system cancer 931
            neuroectodermal tumor 456
              neuroendocrine tumor 209
                islet cell tumor 28
                  Islet Cell Tumor Syndrome 10
paths to the root