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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;   RDO:0000192
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Islet Cell Tumor Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif1b kinesin family member 1B ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:18334619, PMID:18726616 NCBI chr 5:165,994,803...166,133,497
Ensembl chr 5:165,938,576...166,133,491
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, PMID:25741868 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11230481, PMID:11351254, PMID:15277225, PMID:15281979, PMID:15320968, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18058472, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18322301, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:19826964, PMID:19906784, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21479187, PMID:21551259, PMID:21765987, PMID:21810974, PMID:21986619, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:23067224, PMID:24033266, PMID:24728327, PMID:25157968, PMID:25637381, PMID:25741868, PMID:26084817, PMID:26332594, PMID:26467025, PMID:26489027, PMID:27379493, PMID:27539324, PMID:27807060, PMID:28492532, PMID:28946813 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12364472, PMID:12618761, PMID:14500403, PMID:15328326, PMID:16314641, PMID:16317055, PMID:17102082, PMID:17200167, PMID:18362451, PMID:18840642, PMID:19454582, PMID:19802898, PMID:22835832, PMID:23083876, PMID:23175444, PMID:23282968, PMID:23512077, PMID:24033266, PMID:24102379, PMID:24659481, PMID:25298897, PMID:25741868, PMID:25972245, PMID:26642834, PMID:26719882, PMID:28374168, PMID:28492532, PMID:28503760, PMID:28973655, PMID:29386252, PMID:29951630, PMID:30352407 NCBI chr 5:159,484,378...159,505,063
Ensembl chr 5:159,484,370...159,505,064
JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:12807974, PMID:17468193, PMID:19454582, PMID:23342407, PMID:24033266, PMID:25741868 NCBI chr13:89,498,047...89,518,979
Ensembl chr13:89,498,048...89,518,939
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Chromaffinoma ClinVar PMID:10657297, PMID:11156372, PMID:11526495, PMID:12007193, PMID:12111639, PMID:12386824, PMID:12696072, PMID:14557476, PMID:15032977, PMID:15623805, PMID:18678321, PMID:21565294, PMID:21979946, PMID:22584711, PMID:22703879, PMID:23175444, PMID:23666964, PMID:24033266, PMID:24728327, PMID:24886695, PMID:25149476, PMID:25694510, PMID:25695889, PMID:25741868, PMID:26467025, PMID:27153395, PMID:27279923, PMID:28128698, PMID:28164237, PMID:28492532, PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Islet Cell Tumor Syndrome 6
Path 2
Term Annotations click to browse term
  disease 16045
    disease of cellular proliferation 5917
      cancer 4242
        organ system cancer 4067
          nervous system cancer 1608
            neuroectodermal tumor 641
              neuroendocrine tumor 470
                Pancreatic Islet Cell Tumors 31
                  Islet Cell Tumor Syndrome 6
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.