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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:cholesteatoma of middle ear
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Accession:DOID:10964 term browser browse the term
Definition:A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR.
Synonyms:exact_synonym: aural cholesteatoma;   aural cholesteatomas;   cholesteatoma of middle ear and mastoid;   cholesteatoma of middle ear and/or mastoid;   cholesteatoma of the middle ear;   epidermosis of ear;   epidermosis of middle ear;   middle ear cholesteatoma;   middle ear cholesteatomas
 xref: EFO:1000678;   ICD10CM:H71;   ICD9CM:385.3;   ICD9CM:385.32;   MESH:D018424;   NCI:C3654
For additional species annotation, visit the Alliance of Genome Resources.

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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 chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:auditory canal, epidermis (human) RGD PMID:12838021 RGD:8694474 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:8562031 RGD:8547586 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:7503375 PMID:12768791 RGD:11059515 RGD:7794712 NCBI chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO protein:decreased expression:skin RGD PMID:8737779 RGD:8662931 NCBI chrNW_004936713:808,761...881,070
Ensembl chrNW_004936713:808,659...881,076 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:8737779 RGD:8662931 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		JBrowse link
G Il6 interleukin 6 ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:8652157 PMID:21311206 RGD:7364848 RGD:7829727 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:skin RGD PMID:12768791 RGD:7794712 NCBI chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chrNW_004936475:7,801,356...7,825,831
Ensembl chrNW_004936475:7,801,277...7,825,851 		JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chrNW_004936514:7,038,240...7,045,873
Ensembl chrNW_004936514:7,037,639...7,045,793 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Cholesteatoma of middle ear ClinVar PMID:8220424 PMID:27993330 NCBI chrNW_004936470:20,480,844...20,485,955
Ensembl chrNW_004936470:20,480,829...20,485,965 		JBrowse link
G Notch1 notch receptor 1 ISO ClinVar Annotator: match by term: Cholesteatoma of middle ear ClinVar PMID:25741868 PMID:27993330 PMID:28492532 NCBI chrNW_004936669:1,292,016...1,334,061
Ensembl chrNW_004936669:1,292,088...1,332,428 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO protein:increased expression:mucosa of middle ear,skin of ear canal: RGD PMID:24690988 RGD:8552995 NCBI chrNW_004936599:3,800,142...3,810,583
Ensembl chrNW_004936599:3,801,636...3,809,813 		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 chrNW_004936576:522,234...531,660
Ensembl chrNW_004936576:527,434...529,788 		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 chrNW_004936487:6,519,140...6,532,018
Ensembl chrNW_004936487:6,518,441...6,533,095 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:21311206 RGD:7364848 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Tp53 tumor protein p53 ISO protein:increased expression:tympanic membrane,skin: RGD PMID:9455944 RGD:8547787 NCBI chrNW_004936595:919,807...935,367
Ensembl chrNW_004936595:919,428...925,425 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:altered expression:mucosa of the middle ear: RGD PMID:11078065 RGD:8547968 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6287
      auditory system disease 899
        middle ear disease 101
          cholesteatoma of middle ear 18
            cholesteatoma of attic 0
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14119
      nervous system disease 12342
        Neurologic Manifestations 9048
          sensory system disease 6287
            Otorhinolaryngologic Diseases 1591
              auditory system disease 899
                middle ear disease 101
                  cholesteatoma of middle ear 18
                    cholesteatoma of attic 0
paths to the root