Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:cholesteatoma
go back to main search page
Accession:DOID:869 term browser browse the term
Definition:A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. (DO)
Synonyms:exact_synonym: cholesteatomas
 primary_id: MESH:D002781
 xref: EFO:1000675;   GARD:10422;   ICD10CM:H71.9;   ICD9CM:385.30;   NCI:C2944
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
cholesteatoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ereg epiregulin ISO mRNA:increased expression:external acoustic meatus (human) RGD PMID:24256036 RGD:39457690 NCBI chr 5:91,222,476...91,241,508
Ensembl chr 5:91,222,481...91,241,505 		JBrowse link
G F13b coagulation factor XIII, beta subunit ISO ClinVar Annotator: match by term: Cholesteatoma ClinVar NCBI chr 1:139,429,285...139,451,496
Ensembl chr 1:139,429,440...139,451,490 		JBrowse link
G F5 coagulation factor V ISO ClinVar Annotator: match by term: Cholesteatoma ClinVar NCBI chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:fibroblast: RGD PMID:15267172 RGD:8547969 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:1384343 RGD:7401205 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:1384343 PMID:8725537 RGD:7401205, RGD:7401208 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19484988 RGD:8657059 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19484988 RGD:8657059 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Rabgap1l RAB GTPase activating protein 1-like ISO ClinVar Annotator: match by term: Cholesteatoma ClinVar NCBI chr 1:160,046,744...160,621,046
Ensembl chr 1:160,046,744...160,620,781 		JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:24321752 RGD:8661722 NCBI chr 1:52,026,265...52,146,348
Ensembl chr 1:52,026,307...52,146,348 		JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:external acoustic meatus: RGD PMID:15267172 RGD:8547969 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Zbtb37 zinc finger and BTB domain containing 37 ISO ClinVar Annotator: match by term: Cholesteatoma ClinVar NCBI chr 1:160,830,492...160,862,432
Ensembl chr 1:160,830,492...160,862,419 		JBrowse link
cholesteatoma of middle ear term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression: RGD PMID:23324739 RGD:8661795 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:11078065 RGD:8547968 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit ISO protein:increased expression:auditory canal, epidermis (human) RGD PMID:12838021 RGD:8694474 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:8562031 RGD:8547586 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:12768791 PMID:7503375 RGD:7794712, RGD:11059515 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1r1 interleukin 1 receptor, type I ISO protein:decreased expression:skin RGD PMID:8737779 RGD:8662931 NCBI chr 1:40,261,651...40,355,361
Ensembl chr 1:40,264,240...40,356,417 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:8737779 RGD:8662931 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il6 interleukin 6 ISO protein:increased expression:ear:
associated with Otitis Media;protein:increased expression:ear:		 RGD PMID:8652157 PMID:21311206 RGD:7829727, RGD:7364848 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO protein:increased expression:skin RGD PMID:12768791 RGD:7794712 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO protein:increased expression:skin RGD PMID:12768791 RGD:7794712 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr 8:93,553,920...93,580,049
Ensembl chr 8:93,553,919...93,580,048 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770 		JBrowse link
G Myc myelocytomatosis oncogene ISO ClinVar Annotator: match by term: Cholesteatoma of middle ear ClinVar PMID:8220424 PMID:27993330 NCBI chr15:61,857,190...61,862,210
Ensembl chr15:61,857,240...61,862,223 		JBrowse link
G Notch1 notch 1 ISO ClinVar Annotator: match by term: Cholesteatoma of middle ear ClinVar PMID:25741868 PMID:27993330 PMID:28492532 NCBI chr 2:26,347,914...26,393,834
Ensembl chr 2:26,347,915...26,406,675 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Tlr2 toll-like receptor 2 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr4 toll-like receptor 4 ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:21311206 RGD:7364848 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Trp53 transformation related protein 53 ISO protein:increased expression:tympanic membrane,skin: RGD PMID:9455944 RGD:8547787 NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:altered expression:mucosa of the middle ear: RGD PMID:11078065 RGD:8547968 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
Congenital Cholesteatoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO protein:increased expression: RGD PMID:23324739 RGD:8661795 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      skin disease 3826
        keratosis 184
          cholesteatoma 28
            Congenital Cholesteatoma 1
            cholesteatoma of external ear 0
            cholesteatoma of middle ear + 20
            hereditary papulotranslucent acrokeratoderma 0
            maxillary sinus cholesteatoma 0
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            skin disease 3826
              keratosis 184
                cholesteatoma 28
                  Congenital Cholesteatoma 1
                  cholesteatoma of external ear 0
                  cholesteatoma of middle ear + 20
                  hereditary papulotranslucent acrokeratoderma 0
                  maxillary sinus cholesteatoma 0
paths to the root