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ONTOLOGY REPORT - ANNOTATIONS


Term:Carney-Stratakis syndrome
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Accession:DOID:0080533 term browser browse the term
Definition:A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. (DO)
Synonyms:exact_synonym: GIST;   Paraganglioma and Gastric Stromal Sarcoma;   Paraganglioma and Gastrointestinal Stromal Tumor
 primary_id: MESH:C564650
 alt_id: DOID:9004181;   OMIM:606864;   RDO:0013535
 xref: GARD:10643;   ORDO:97286
For additional species annotation, visit the Alliance of Genome Resources.


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Carney-Stratakis syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sdhb succinate dehydrogenase complex iron sulfur subunit B JBrowse link 5 159,484,378 159,505,063 RGD:7240710
RGD:8554872
G Sdhc succinate dehydrogenase complex subunit C JBrowse link 13 89,498,047 89,518,979 RGD:7240710
RGD:8554872
G Sdhd succinate dehydrogenase complex subunit D JBrowse link 8 55,028,125 55,037,604 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      Carney-Stratakis syndrome 3
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal dominant disease 2076
                paraganglioma 41
                  Carney-Stratakis syndrome 3
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.