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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
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Accession:DOID:869 term browser browse the term
Definition:A non-neoplastic mass of keratin-producing squamous EPITHELIUM, frequently occurring in the MENINGES; bones of the skull, and most commonly in the MIDDLE EAR and MASTOID region. Cholesteatoma can be congenital or acquired. Cholesteatoma is not a tumor nor is it associated with high CHOLESTEROL.
Synonyms:exact_synonym: cholesteatomas
 primary_id: MESH:D002781
 xref: 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 chr14:18,577,620...18,591,395
Ensembl chr14:18,576,355...18,591,394
JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:fibroblast: RGD PMID:15267172 RGD:8547969 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:1384343 RGD:7401205 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1b interleukin 1 beta ISO RGD PMID:1384343, PMID:8725537 RGD:7401205, RGD:7401208 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO RGD PMID:19484988 RGD:8657059 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO RGD PMID:19484988 RGD:8657059 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Stat4 signal transducer and activator of transcription 4 ISO RGD PMID:24321752 RGD:8661722 NCBI chr 9:54,340,649...54,457,753
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Tlr2 toll-like receptor 2 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr4 toll-like receptor 4 ISO mRNA,protein:increased expression:mucosa: RGD PMID:22883581 RGD:7800662 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:external acoustic meatus: RGD PMID:15267172 RGD:8547969 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:11078065 RGD:8547968 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:auditory canal, epidermis (human) RGD PMID:12838021 RGD:8694474 NCBI chr 6:96,810,868...96,856,303
Ensembl chr 6:96,810,907...96,856,052
JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:8562031 RGD:8547586 NCBI chr 8:22,035,287...22,047,049
Ensembl chr 8:22,035,256...22,047,059
JBrowse link
G Il1a interleukin 1 alpha ISO RGD PMID:12768791, PMID:7503375 RGD:7794712, RGD:11059515 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
JBrowse link
G Il1r1 interleukin 1 receptor type 1 ISO protein:decreased expression:skin RGD PMID:8737779 RGD:8662931 NCBI chr 9:46,962,291...47,038,139
Ensembl chr 9:46,962,288...47,036,670
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:8737779 RGD:8662931 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression:skin RGD PMID:12768791 RGD:7794712 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:15620146 RGD:8547870 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 chr 1:220,992,770...221,003,249
Ensembl chr 1:220,992,770...221,003,249
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 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
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 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tnf tumor necrosis factor ISO associated with Otitis Media;protein:increased expression:ear: RGD PMID:21311206 RGD:7364848 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tp53 tumor protein p53 ISO protein:increased expression:tympanic membrane,skin: RGD PMID:9455944 RGD:8547787 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:altered expression:mucosa of the middle ear: RGD PMID:11078065 RGD:8547968 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      skin disease 2765
        keratosis 187
          cholesteatoma 21
            Congenital Cholesteatoma 1
            cholesteatoma of external ear 0
            cholesteatoma of middle ear + 17
            hereditary papulotranslucent acrokeratoderma 0
            maxillary sinus cholesteatoma 0
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            keratosis 187
              cholesteatoma 21
                Congenital Cholesteatoma 1
                cholesteatoma of external ear 0
                cholesteatoma of middle ear + 17
                hereditary papulotranslucent acrokeratoderma 0
                maxillary sinus cholesteatoma 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.