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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   cholesteatoma
  

Disease ID 1266
Disease cholesteatoma
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.
Synonym
cholesteatoma (disorder)
cholesteatoma (morphologic abnormality)
cholesteatoma [disease/finding]
cholesteatoma nos
cholesteatoma, nos
cholesteatoma, unspecified
cholesteatomas
epidermoid cholesteatoma
unspecified cholesteatoma
unspecified cholesteatoma (morphologic abnormality)
DOID
UMLS
C0008373
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:15)
C0029882  |  otitis media  |  43
C0271454  |  chronic suppurative otitis media  |  5
C0008925  |  cleft palate  |  3
C0021874  |  intracranial abscess  |  2
C0024904  |  mastoiditis  |  1
C0155478  |  adhesive otitis media  |  1
C0015469  |  facial paralysis  |  1
C0011649  |  dermoid cyst  |  1
C0035078  |  renal failure  |  1
C0022661  |  chronic renal failure  |  1
C0016045  |  fibromas  |  1
C0018784  |  sensorineural hearing loss  |  1
C0008924  |  cleft lip  |  1
C0011334  |  cavities  |  1
C0015469  |  facial nerve paralysis  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
2706  |  GJB2  |  CIPHER
10804  |  GJB6  |  CIPHER
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:78)
257  |  ALX3  |  1.037  |  DISEASES
650  |  BMP2  |  1.519  |  DISEASES
799  |  CALCR  |  1.721  |  DISEASES
820  |  CAMP  |  1.05  |  DISEASES
1041  |  CDSN  |  1.05  |  DISEASES
160364  |  CLEC12A  |  2.279  |  DISEASES
387837  |  CLEC12B  |  3.716  |  DISEASES
170482  |  CLEC4C  |  1.207  |  DISEASES
23601  |  CLEC5A  |  2.419  |  DISEASES
93978  |  CLEC6A  |  2.456  |  DISEASES
9244  |  CRLF1  |  2.416  |  DISEASES
1499  |  CTNNB1  |  1.063  |  DISEASES
414325  |  DEFB103A  |  1.083  |  DISEASES
55894  |  DEFB103B  |  1.083  |  DISEASES
100289462  |  DEFB4B  |  1.426  |  DISEASES
646480  |  FABP9  |  1.942  |  DISEASES
2258  |  FGF13  |  1.102  |  DISEASES
2263  |  FGFR2  |  3.139  |  DISEASES
2312  |  FLG  |  2.853  |  DISEASES
27023  |  FOXB1  |  2.868  |  DISEASES
27022  |  FOXD3  |  1.171  |  DISEASES
2706  |  GJB2  |  1.551  |  DISEASES
3039  |  HBA1  |  1.083  |  DISEASES
3091  |  HIF1A  |  1.093  |  DISEASES
3384  |  ICAM2  |  1.194  |  DISEASES
3397  |  ID1  |  2.133  |  DISEASES
3683  |  ITGAL  |  1.109  |  DISEASES
3713  |  IVL  |  3.329  |  DISEASES
102723508  |  KANTR  |  2.036  |  DISEASES
9851  |  KIAA0753  |  2.526  |  DISEASES
25818  |  KLK5  |  1.272  |  DISEASES
5650  |  KLK7  |  1.068  |  DISEASES
3875  |  KRT18  |  1.472  |  DISEASES
3880  |  KRT19  |  2.095  |  DISEASES
3851  |  KRT4  |  3.63  |  DISEASES
3909  |  LAMA3  |  1.012  |  DISEASES
4065  |  LY75  |  2.263  |  DISEASES
153562  |  MARVELD2  |  1.81  |  DISEASES
79104  |  MEG8  |  1.84  |  DISEASES
4312  |  MMP1  |  1.735  |  DISEASES
4318  |  MMP9  |  2.996  |  DISEASES
4513  |  MT-CO2  |  1.05  |  DISEASES
727897  |  MUC5B  |  1.005  |  DISEASES
100129528  |  MUC8  |  2.09  |  DISEASES
4609  |  MYC  |  1.434  |  DISEASES
54892  |  NCAPG2  |  2.661  |  DISEASES
64332  |  NFKBIZ  |  1.666  |  DISEASES
4942  |  OAT  |  1.399  |  DISEASES
126014  |  OSCAR  |  1.216  |  DISEASES
26578  |  OSTF1  |  2.571  |  DISEASES
27445  |  PCLO  |  1.21  |  DISEASES
5332  |  PLCB4  |  2.238  |  DISEASES
139728  |  PNCK  |  1.208  |  DISEASES
5456  |  POU3F4  |  1.354  |  DISEASES
5728  |  PTEN  |  1.259  |  DISEASES
5744  |  PTHLH  |  1.261  |  DISEASES
5879  |  RAC1  |  1.487  |  DISEASES
83695  |  RHNO1  |  1.285  |  DISEASES
6278  |  S100A7  |  2.467  |  DISEASES
338324  |  S100A7A  |  2.838  |  DISEASES
6279  |  S100A8  |  1.216  |  DISEASES
6280  |  S100A9  |  1.418  |  DISEASES
5265  |  SERPINA1  |  1.464  |  DISEASES
6318  |  SERPINB4  |  1.358  |  DISEASES
6520  |  SLC3A2  |  2.232  |  DISEASES
4184  |  SMCP  |  1.853  |  DISEASES
4070  |  TACSTD2  |  1.036  |  DISEASES
7099  |  TLR4  |  2.075  |  DISEASES
55858  |  TMEM165  |  2.394  |  DISEASES
7110  |  TMF1  |  1.616  |  DISEASES
7124  |  TNF  |  2.691  |  DISEASES
131405  |  TRIM71  |  3.456  |  DISEASES
162514  |  TRPV3  |  1.712  |  DISEASES
55503  |  TRPV6  |  1.137  |  DISEASES
9875  |  URB1  |  3.582  |  DISEASES
10090  |  UST  |  1.666  |  DISEASES
7422  |  VEGFA  |  1.553  |  DISEASES
7716  |  VEZF1  |  2.942  |  DISEASES
Locus(Waiting for update.)
Disease ID 1266
Disease cholesteatoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:19)
HP:0000388  |  Otitis media  |  48
HP:0000389  |  Chronic otitis media  |  43
HP:0100246  |  Osteoma  |  4
HP:0000175  |  Palatoschisis  |  3
HP:0000651  |  Diplopia  |  2
HP:0003774  |  End-stage renal failure  |  1
HP:0030049  |  Brain abscess  |  1
HP:0000718  |  Aggressive behaviour  |  1
HP:0000265  |  Mastoiditis  |  1
HP:0200040  |  Epidermal inclusion cyst  |  1
HP:0000405  |  Conductive hearing loss  |  1
HP:0000365  |  Hearing impairment  |  1
HP:0000407  |  sensorineural hearing loss  |  1
HP:0004439  |  Crouzon syndrome  |  1
HP:0010628  |  Facial palsy, unilateral or bilateral  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0002315  |  Headaches  |  1
HP:0009795  |  Branchial cleft fistula  |  1
HP:0002006  |  Tessier facial cleft  |  1
Disease ID 1266
Disease cholesteatoma
Manually Symptom
UMLS  | Name(Total Manually Symptoms:22)
C2707258  |  infections
C2029884  |  hearing loss
C1550639  |  fistula
C1510420  |  cavities
C1333646  |  epidermoid carcinoma of the frontal sinus
C1263876  |  chronic ear disease
C0339774  |  bezold's abscess
C0271441  |  chronic otitis media
C0270639  |  lateral sinus thrombosis
C0270628  |  cerebellar abscess
C0238792  |  bone lesion
C0238790  |  bone destruction
C0155842  |  parapharyngeal abscess
C0155509  |  labyrinthine fistula
C0040997  |  trigeminal neuralgia
C0032285  |  pneumoniae
C0029882  |  middle ear infection
C0018777  |  conductive hearing loss
C0015469  |  facial paralysis
C0015469  |  facial palsy
C0010201  |  chronic cough
C0007137  |  squamous cell carcinoma
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:6)
C0271441  |  chronic otitis media  |  43
C0155509  |  labyrinthine fistula  |  3
C1384666  |  hearing loss  |  2
C0021311  |  infections  |  2
C0011334  |  cavities  |  1
C0339774  |  bezold's abscess  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1266
Disease cholesteatoma
Case(Waiting for update.)