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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:sebaceous gland neoplasm
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Accession:DOID:5759 term browser browse the term
Definition:New abnormal growth of tissue in the SEBACEOUS GLANDS.
Synonyms:exact_synonym: Sebaceous neoplasm;   sebaceous gland neoplasms
 primary_id: MESH:D012626;   RDO:0006549
 xref: NCI:C3363
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
sebaceous gland neoplasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A IEP RGD PMID:12354803 RGD:8662839 NCBI chr 6:36,676,463...36,687,332
Ensembl chr 6:36,676,460...36,687,339
Ensembl chr 6:36,676,460...36,687,339
JBrowse link
G LEF1 lymphoid enhancer binding factor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 4:108,047,548...108,168,932
Ensembl chr 4:108,047,545...108,168,956
JBrowse link
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 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 3:36,993,487...37,050,846
Ensembl chr 3:36,993,350...37,050,846
Ensembl chr 3:36,993,350...37,050,846
JBrowse link
G MSH2 mutS homolog 2 IAGP ClinVar Annotator: match by term: Muir-Torré syndrome
ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas
ClinVar
OMIM
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 2:47,403,067...47,634,501
Ensembl chr 2:47,403,067...47,663,146
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 18864
    sensory system disease 5735
      skin disease 2904
        Skin Neoplasms 257
          sebaceous gland neoplasm 5
            Muir-Torre syndrome 3
            Somatic Sebaceous Tumors 0
            sebaceous adenoma 0
            sebaceous carcinoma + 0
Path 2
Term Annotations click to browse term
  disease 18864
    disease of anatomical entity 17349
      nervous system disease 13439
        sensory system disease 5735
          skin disease 2904
            Skin Neoplasms 257
              skin benign neoplasm 72
                sebaceous gland neoplasm 5
                  Muir-Torre syndrome 3
                  Somatic Sebaceous Tumors 0
                  sebaceous adenoma 0
                  sebaceous carcinoma + 0
paths to the root

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