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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 form of LYNCH SYNDROME II associated with cutaneous SEBACEOUS GLAND NEOPLASMS. Muir-Torre syndrome is also associated with other visceral malignant diseases include colorectal, endometrial, urological, and upper gastrointestinal neoplasms.
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 chr15:15,697,292...16,862,873 JBrowse link
G Mlh1 mutL homolog 1 ISO ClinVar Annotator: match by term: Muir-Torré syndrome
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
OMIM
ClinVar
PMID:1522200 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8751876 PMID:9311737 PMID:9377556 PMID:9777949 PMID:10422993 PMID:10713887 PMID:10995807 PMID:11208710 PMID:11585727 PMID:11920650 PMID:11948175 PMID:12658575 PMID:14635101 PMID:15173238 PMID:15475387 PMID:15713769 PMID:15849733 PMID:15870828 PMID:15996210 PMID:16181381 PMID:16216036 PMID:16736289 PMID:17135187 PMID:17210669 PMID:17473388 PMID:17505997 PMID:17510385 PMID:18561205 PMID:18726168 PMID:19116412 PMID:19690142 PMID:21404117 PMID:21636617 PMID:21681552 PMID:22776989 PMID:22843852 PMID:23729658 PMID:24033266 PMID:24344984 PMID:25741868 PMID:26437257 PMID:26467025 PMID:26552419 PMID:27064304 PMID:27601186 PMID:27978560 PMID:28492532 PMID:28514183 PMID:28767289 PMID:30504929 NCBI chr 8:119,486,655...119,523,716
Ensembl chr 8:119,486,691...119,523,964
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 PMID:9217825 PMID:9288790 PMID:9718327 PMID:9739019 PMID:10080150 PMID:10323887 PMID:10375096 PMID:10397236 PMID:11151427 PMID:11291077 PMID:11601928 PMID:12132870 PMID:12362047 PMID:12624141 PMID:14994245 PMID:15235030 PMID:15655560 PMID:15849733 PMID:15872200 PMID:15942939 PMID:16216036 PMID:16451135 PMID:16636019 PMID:16736289 PMID:16830052 PMID:16996571 PMID:17250661 PMID:17312306 PMID:17473388 PMID:17569143 PMID:18270343 PMID:18289827 PMID:18772310 PMID:19419416 PMID:19731080 PMID:20007843 PMID:21598002 PMID:21642682 PMID:22034109 PMID:23990280 PMID:24344984 PMID:24362816 PMID:24415873 PMID:24474082 PMID:24549055 PMID:24851142 PMID:25093288 PMID:25110875 PMID:25117503 PMID:25194673 PMID:25430799 PMID:25525159 PMID:25741868 PMID:26437257 PMID:26467025 PMID:27606285 PMID:28449805 PMID:28492532 PMID:28874130 PMID:28944238 PMID:29489754 PMID:29889250 NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Muir-Torre syndrome 3
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                Lynch syndrome 33
                  hereditary nonpolyposis colorectal cancer type 2 4
                    Muir-Torre syndrome 3
paths to the root