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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: EFO:1001172;   NCI:C3363
For additional species annotation, visit the Alliance of Genome Resources.


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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 ISO RGD PMID:12354803 RGD:8662839 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Lef1 lymphoid enhancer binding factor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16565724 NCBI chr 2:219,666,549...219,779,815
Ensembl chr 2:219,666,592...219,779,794 		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 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2414824 PMID:4063166 PMID:7705822 PMID:8198129 PMID:8571956 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6096739 PMID:7585065 PMID:7713503 PMID:8566964 PMID:8592341 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 18976
    sensory system disease 7022
      skin disease 4047
        sebaceous gland disease 23
          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 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            skin disease 4047
              Skin Neoplasms 509
                skin benign neoplasm 195
                  sebaceous gland neoplasm 5
                    Muir-Torre syndrome 3
                    Somatic Sebaceous Tumors 0
                    sebaceous adenoma 0
                    sebaceous carcinoma + 0
paths to the root