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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



show annotations for term's descendants           Sort by:
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 chr 3:59,747,277...61,251,452
Ensembl chr 3:59,747,277...61,251,459
JBrowse link
G MLH1 mutL homolog 1 IAGP
EXP
ClinVar Annotator: match by term: Muir-Torré syndrome
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:2414824 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8571956 More... NCBI chr 3:36,993,466...37,050,846
Ensembl chr 3:36,993,226...37,050,896
JBrowse link
G MSH2 mutS homolog 2 IAGP
EXP
ClinVar Annotator: match by term: Muir-Torré syndrome
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:6096739 PMID:7585065 PMID:7713503 PMID:8566964 PMID:8592341 More... NCBI chr 2:47,403,067...47,709,830
Ensembl chr 2:47,403,067...47,663,146
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 40760
    sensory system disease 9679
      skin disease 4862
        Genetic Skin Diseases 2461
          Muir-Torre syndrome 3
Path 2
Term Annotations click to browse term
  disease 40760
    disease of anatomical entity 32068
      nervous system disease 25939
        Neurologic Manifestations 15118
          sensory system disease 9679
            skin disease 4862
              Skin Neoplasms 479
                skin benign neoplasm 229
                  sebaceous gland neoplasm 5
                    Muir-Torre syndrome 3
paths to the root