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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:Muir-Torre syndrome
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Accession:DOID:0050465 term browser browse the term
Definition:A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. (DO)
Synonyms:exact_synonym: CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS;   MRTES;   Muir-Torré syndrome
 primary_id: MESH:D055653
 alt_id: OMIM:158320
 xref: GARD:6821;   NCI:C84905;   ORDO:587
For additional species annotation, visit the Alliance of Genome Resources.



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Muir-Torre syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fhit fragile histidine triad diadenosine triphosphatase ISS OMIM:158320 MouseDO NCBI chr15:13,935,029...15,442,620
Ensembl chr15:13,934,995...15,442,340
JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome OMIM
ClinVar
PMID:1756143 PMID:4063166 PMID:7705822 PMID:7728749 PMID:8145827 More... NCBI chr 8:111,196,468...111,233,721
Ensembl chr 8:111,196,468...111,233,617
JBrowse link
G Msh2 mutS homolog 2 ISO ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome OMIM
ClinVar
PMID:7585065 PMID:7713503 PMID:8566964 PMID:8592341 PMID:9002677 More... NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    sensory system disease 6520
      skin disease 3877
        Genetic Skin Diseases 1583
          Muir-Torre syndrome 3
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      gastrointestinal system disease 6656
        Digestive System Neoplasms 3792
          Gastrointestinal Neoplasms 3668
            Intestinal Neoplasms 1761
              Colorectal Neoplasms 1742
                Lynch syndrome 56
                  hereditary nonpolyposis colorectal cancer type 2 4
                    Muir-Torre syndrome 3
paths to the root