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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:Carney Triad
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Accession:DOID:9007167 term browser browse the term
Synonyms:exact_synonym: Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma
 primary_id: MESH:C565803
 alt_id: OMIM:604287
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Carney Triad term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdha succinate dehydrogenase complex flavoprotein subunit A ISO ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA ClinVar PMID:20484225 PMID:21505157 PMID:21752896 PMID:22955521 PMID:22974104 PMID:23174939 PMID:23252569 PMID:23612575 PMID:23666964 PMID:23730622 PMID:24781757 PMID:25494863 PMID:25741868 PMID:26113600 PMID:26173966 PMID:26259135 PMID:26269449 PMID:26490314 PMID:27895137 PMID:28384794 PMID:28492532 PMID:28500238 PMID:28819017 PMID:29872718 PMID:30068732 NCBI chr 1:28,935,965...28,960,936 JBrowse link
G Sdhb succinate dehydrogenase complex iron sulfur subunit B ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:15987702 PMID:16288654 PMID:16317055 PMID:16912137 PMID:16916404 PMID:17200167 PMID:17667967 PMID:17884808 PMID:19001511 PMID:19215943 PMID:19802898 PMID:21820839 PMID:23282968 PMID:24033266 PMID:25371406 PMID:25683602 PMID:25741868 PMID:25972245 PMID:26173966 PMID:26467025 PMID:26916530 PMID:28070496 PMID:28152038 PMID:28349240 PMID:28374168 PMID:28492532 PMID:28738844 PMID:28873162 PMID:29386252 NCBI chr 5:153,264,906...153,285,570 JBrowse link
G Sdhc succinate dehydrogenase complex subunit C ISO ClinVar Annotator: match by term: Carney triad ClinVar PMID:9536098 PMID:12658451 PMID:17576681 PMID:17667967 PMID:17804857 PMID:19351833 PMID:21173220 PMID:21822798 PMID:24402737 PMID:26173966 PMID:28492532 NCBI chr13:83,544,652...83,565,560 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    disease of cellular proliferation 6949
      benign neoplasm 1930
        cell type benign neoplasm 1741
          chondroma 16
            Carney Triad 3
Path 2
Term Annotations click to browse term
  disease 17160
    disease of anatomical entity 16500
      nervous system disease 12095
        peripheral nervous system disease 2529
          neuropathy 2327
            neuromuscular disease 1833
              muscular disease 1232
                muscle tissue disease 823
                  Muscle Tissue Neoplasms 139
                    musculoskeletal system benign neoplasm 81
                      muscle benign neoplasm 55
                        smooth muscle tumor 17
                          smooth muscle cancer 16
                            leiomyosarcoma 16
                              Carney Triad 3
paths to the root