Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


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 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:16, PMID:1522200, PMID:4063166, PMID:5713769, PMID:7705822, PMID:8198129, PMID:8751876, PMID:8880570, PMID:9377556, PMID:9526167, PMID:9697702, PMID:9777949, PMID:10037723, PMID:10348818, PMID:10422993, PMID:10612827, PMID:10713887, PMID:10861474, PMID:10995807, PMID:11139242, PMID:11208710, PMID:11427529, PMID:11585727, PMID:11726306, PMID:11748856, PMID:11839723, PMID:11920458, PMID:11920650, PMID:12037578, PMID:12095971, PMID:12362047, PMID:12624141, PMID:12658575, PMID:12810663, PMID:12874865, PMID:14635101, PMID:14762794, PMID:15139004, PMID:15173238, PMID:15184898, PMID:15222003, PMID:15254659, PMID:15340264, PMID:15345113, PMID:15475387, PMID:15520370, PMID:15613555, PMID:15713769, PMID:15845562, PMID:15849733, PMID:15864295, PMID:15870828, PMID:15991306, PMID:15996210, PMID:16083711, PMID:16142001, PMID:16181381, PMID:16203774, PMID:16206289, PMID:16216036, PMID:16288214, PMID:16341550, PMID:16395668, PMID:16451135, PMID:16724012, PMID:16995940, PMID:17054581, PMID:17074586, PMID:17117178, PMID:17192056, PMID:17210669, PMID:17250665, PMID:17312306, PMID:17453009, PMID:17473388, PMID:17505997, PMID:17510385, PMID:17594722, PMID:18033691, PMID:18069769, PMID:18094436, PMID:18307539, PMID:18383312, PMID:18389388, PMID:18561205, PMID:18566915, PMID:18726168, PMID:18809606, PMID:19116412, PMID:19224586, PMID:19250818, PMID:19267393, PMID:19419416, PMID:19669161, PMID:19690142, PMID:19697156, PMID:20373145, PMID:20533529, PMID:20858721, PMID:21034533, PMID:21120944, PMID:21404117, PMID:21475916, PMID:21636617, PMID:21642682, PMID:21681552, PMID:22086678, PMID:22136435, PMID:22252508, PMID:22290698, PMID:22703879, PMID:22736432, PMID:22753075, PMID:22776989, PMID:22875147, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23354017, PMID:23403630, PMID:23523604, PMID:23729658, PMID:23760103, PMID:24032978, PMID:24033266, PMID:24090359, PMID:24344984, PMID:24362816, PMID:24440087, PMID:24549055, PMID:24728327, PMID:24933000, PMID:25115387, PMID:25133505, PMID:25142776, PMID:25157968, PMID:25186627, PMID:25430799, PMID:25477341, PMID:25503501, PMID:25525159, PMID:25559809, PMID:25579085, PMID:25741868, PMID:25823662, PMID:25871621, PMID:25980754, PMID:26053027, PMID:26332594, PMID:26333163, PMID:26437257, PMID:26467025, PMID:26485756, PMID:26580448, PMID:26681312, PMID:26817999, PMID:26845104, PMID:26898890, PMID:26976419, PMID:27064304, PMID:27121310, PMID:27152634, PMID:27498913, PMID:27601186, PMID:27629256, PMID:27732944, PMID:27831900, PMID:27978560, PMID:28135145, PMID:28466842, PMID:28492532, PMID:28724667, PMID:28767289, PMID:28822769, PMID:28874130, PMID:29288294, PMID:29360550, PMID:29419868, PMID:29520894, PMID:29596542, PMID:29887214, PMID:30093976, PMID:30720243, PMID:30998989, PMID:31391288, PMID:31784484, PMID:32566746 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:6096739, PMID:7585065, PMID:7713503, PMID:8062247, PMID:8261515, PMID:8566964, PMID:8592341, PMID:8993976, PMID:9002677, PMID:9217825, PMID:9288790, PMID:9718327, PMID:9739019, PMID:10080150, PMID:10323887, PMID:10375096, PMID:10397236, PMID:10480359, PMID:10528862, PMID:10573010, PMID:10793088, PMID:10978353, PMID:11151427, PMID:11291077, PMID:11601928, PMID:11691782, PMID:12112654, PMID:12132870, PMID:12362047, PMID:12454801, PMID:12522549, PMID:12624141, PMID:12658575, PMID:14970868, PMID:14994245, PMID:15235030, PMID:15254659, PMID:15516845, PMID:15520224, PMID:15520370, PMID:15655560, PMID:15713769, PMID:15731775, PMID:15845562, PMID:15849733, PMID:15855432, PMID:15872200, PMID:15929773, PMID:15942939, PMID:15955785, PMID:16034045, PMID:16199548, PMID:16203774, PMID:16216036, PMID:16395668, PMID:16451135, PMID:16574953, PMID:16614121, PMID:16636019, PMID:16736289, PMID:16830052, PMID:16996571, PMID:17101317, PMID:17192056, PMID:17250661, PMID:17312306, PMID:17414604, PMID:17473388, PMID:17569143, PMID:17594722, PMID:17720936, PMID:18033691, PMID:18270343, PMID:18289827, PMID:18325052, PMID:18383312, PMID:18674656, PMID:18772310, PMID:18951462, PMID:19101824, PMID:19267393, PMID:19389263, PMID:19419416, PMID:19459153, PMID:19669161, PMID:19698169, PMID:19723918, PMID:19731080, PMID:19760518, PMID:20007843, PMID:20068152, PMID:20176959, PMID:20223024, PMID:20587412, PMID:20591884, PMID:20850175, PMID:21120944, PMID:21239990, PMID:21419771, PMID:21590452, PMID:21598002, PMID:21642682, PMID:21681552, PMID:21788563, PMID:21926548, PMID:22034109, PMID:22039344, PMID:22102614, PMID:22144684, PMID:22219001, PMID:22290698, PMID:22581703, PMID:22703879, PMID:22949379, PMID:22949387, PMID:23047549, PMID:23990280, PMID:24033266, PMID:24040339, PMID:24278394, PMID:24326041, PMID:24344984, PMID:24362816, PMID:24415873, PMID:24474082, PMID:24506336, PMID:24549055, PMID:24710284, PMID:24728327, PMID:24763289, PMID:24851142, PMID:24933000, PMID:24953332, PMID:25093288, PMID:25110875, PMID:25117503, PMID:25133505, PMID:25194673, PMID:25430799, PMID:25479140, PMID:25503501, PMID:25525159, PMID:25637381, PMID:25741868, PMID:26094658, PMID:26096739, PMID:26250988, PMID:26332594, PMID:26333163, PMID:26344056, PMID:26437257, PMID:26467025, PMID:26517685, PMID:26580448, PMID:26845104, PMID:26878173, PMID:26898890, PMID:26951660, PMID:27016151, PMID:27153395, PMID:27328445, PMID:27600092, PMID:27601186, PMID:27606285, PMID:28125075, PMID:28195393, PMID:28202063, PMID:28449805, PMID:28492532, PMID:28494185, PMID:28640387, PMID:28767289, PMID:28874130, PMID:28944238, PMID:29212164, PMID:29238914, PMID:29368341, PMID:29458332, PMID:29489754, PMID:29684080, PMID:29887214, PMID:29889250, PMID:29945567, PMID:30093976, PMID:30131383, PMID:30238922, PMID:30306255, PMID:30374176, PMID:30376427, PMID:30998989, PMID:31366136, PMID:31422574 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 16108
    syndrome 6992
      Muir-Torre syndrome 3
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                Lynch syndrome 35
                  hereditary nonpolyposis colorectal cancer type 2 3
                    Muir-Torre syndrome 3
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.