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Pediatric Disease Annotations & Medicines



   cholesteatoma
  

Disease ID 764
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  |  50
C0271454  |  chronic suppurative otitis media  |  7
C0008925  |  cleft palate  |  3
C0015469  |  facial paralysis  |  2
C0021874  |  intracranial abscess  |  2
C0155478  |  adhesive otitis media  |  1
C0010273  |  crouzon syndrome  |  1
C0022661  |  chronic renal failure  |  1
C0024904  |  mastoiditis  |  1
C0008924  |  cleft lip  |  1
C0029456  |  osteoporosis  |  1
C0011334  |  cavities  |  1
C0018784  |  sensorineural hearing loss  |  1
C0035078  |  renal failure  |  1
C0011649  |  dermoid cyst  |  1
Curated Gene(Waiting for update.)
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
2706  |  GJB2  |  infer
10804  |  GJB6  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:174)
84245  |  MRI1  |  DISEASES
43847  |  KLK14  |  DISEASES
3861  |  KRT14  |  DISEASES
22795  |  NID2  |  DISEASES
1690  |  COCH  |  DISEASES
10278  |  EFS  |  DISEASES
5716  |  PSMD10  |  DISEASES
10857  |  PGRMC1  |  DISEASES
7076  |  TIMP1  |  DISEASES
54  |  ACP5  |  DISEASES
4313  |  MMP2  |  DISEASES
1512  |  CTSH  |  DISEASES
9333  |  TGM5  |  DISEASES
8767  |  RIPK2  |  DISEASES
23581  |  CASP14  |  DISEASES
7040  |  TGFB1  |  DISEASES
3082  |  HGF  |  DISEASES
8288  |  EPX  |  DISEASES
51056  |  LAP3  |  DISEASES
595  |  CCND1  |  DISEASES
50856  |  CLEC4A  |  DISEASES
55856  |  ACOT13  |  DISEASES
1839  |  HBEGF  |  DISEASES
9168  |  TMSB10  |  DISEASES
3554  |  IL1R1  |  DISEASES
4317  |  MMP8  |  DISEASES
63923  |  TNN  |  DISEASES
8600  |  TNFSF11  |  DISEASES
5266  |  PI3  |  DISEASES
5335  |  PLCG1  |  DISEASES
2069  |  EREG  |  DISEASES
4502  |  MT2A  |  DISEASES
3860  |  KRT13  |  DISEASES
1773  |  DNASE1  |  DISEASES
29108  |  PYCARD  |  DISEASES
968  |  CD68  |  DISEASES
1215  |  CMA1  |  DISEASES
239  |  ALOX12  |  DISEASES
3852  |  KRT5  |  DISEASES
3848  |  KRT1  |  DISEASES
3854  |  KRT6B  |  DISEASES
3958  |  LGALS3  |  DISEASES
10462  |  CLEC10A  |  DISEASES
6947  |  TCN1  |  DISEASES
3569  |  IL6  |  DISEASES
7097  |  TLR2  |  DISEASES
3685  |  ITGAV  |  DISEASES
999  |  CDH1  |  DISEASES
8503  |  PIK3R3  |  DISEASES
1  |  A1BG  |  DISEASES
3552  |  IL1A  |  DISEASES
3553  |  IL1B  |  DISEASES
9410  |  SNRNP40  |  DISEASES
3918  |  LAMC2  |  DISEASES
1475  |  CSTA  |  DISEASES
374  |  AREG  |  DISEASES
2247  |  FGF2  |  DISEASES
6774  |  STAT3  |  DISEASES
3383  |  ICAM1  |  DISEASES
11343  |  MGLL  |  DISEASES
1950  |  EGF  |  DISEASES
3700  |  ITIH4  |  DISEASES
2252  |  FGF7  |  DISEASES
7157  |  TP53  |  DISEASES
3858  |  KRT10  |  DISEASES
1513  |  CTSK  |  DISEASES
100996939  |  PYURF  |  DISEASES
1956  |  EGFR  |  DISEASES
27250  |  PDCD4  |  DISEASES
3087  |  HHEX  |  DISEASES
6317  |  SERPINB3  |  DISEASES
132  |  ADK  |  DISEASES
2063  |  NR2F6  |  DISEASES
6271  |  S100A1  |  DISEASES
3856  |  KRT8  |  DISEASES
7039  |  TGFA  |  DISEASES
9076  |  CLDN1  |  DISEASES
3313  |  HSPA9  |  DISEASES
4982  |  TNFRSF11B  |  DISEASES
1672  |  DEFB1  |  DISEASES
717  |  C2  |  DISEASES
26253  |  CLEC4E  |  DISEASES
4314  |  MMP3  |  DISEASES
124872  |  B4GALNT2  |  DISEASES
3868  |  KRT16  |  DISEASES
64581  |  CLEC7A  |  DISEASES
1673  |  DEFB4A  |  DISEASES
6699  |  SPRR1B  |  DISEASES
1473  |  CST5  |  DISEASES
160065  |  PATE1  |  DISEASES
54498  |  SMOX  |  DISEASES
3964  |  LGALS8  |  DISEASES
1163  |  CKS1B  |  DISEASES
8837  |  CFLAR  |  DISEASES
6773  |  STAT2  |  DISEASES
147912  |  SIX5  |  DISEASES
414325  |  DEFB103A  |  DISEASES
3039  |  HBA1  |  DISEASES
4312  |  MMP1  |  DISEASES
153562  |  MARVELD2  |  DISEASES
3909  |  LAMA3  |  DISEASES
55894  |  DEFB103B  |  DISEASES
64332  |  NFKBIZ  |  DISEASES
338324  |  S100A7A  |  DISEASES
5332  |  PLCB4  |  DISEASES
27445  |  PCLO  |  DISEASES
25818  |  KLK5  |  DISEASES
3091  |  HIF1A  |  DISEASES
26578  |  OSTF1  |  DISEASES
6318  |  SERPINB4  |  DISEASES
1499  |  CTNNB1  |  DISEASES
387837  |  CLEC12B  |  DISEASES
160364  |  CLEC12A  |  DISEASES
5265  |  SERPINA1  |  DISEASES
5879  |  RAC1  |  DISEASES
54892  |  NCAPG2  |  DISEASES
3683  |  ITGAL  |  DISEASES
55503  |  TRPV6  |  DISEASES
799  |  CALCR  |  DISEASES
126014  |  OSCAR  |  DISEASES
170482  |  CLEC4C  |  DISEASES
4513  |  MT-CO2  |  DISEASES
3880  |  KRT19  |  DISEASES
9851  |  KIAA0753  |  DISEASES
10090  |  UST  |  DISEASES
6278  |  S100A7  |  DISEASES
6279  |  S100A8  |  DISEASES
6280  |  S100A9  |  DISEASES
3713  |  IVL  |  DISEASES
4184  |  SMCP  |  DISEASES
2312  |  FLG  |  DISEASES
4942  |  OAT  |  DISEASES
257  |  ALX3  |  DISEASES
2258  |  FGF13  |  DISEASES
27022  |  FOXD3  |  DISEASES
4070  |  TACSTD2  |  DISEASES
5728  |  PTEN  |  DISEASES
7422  |  VEGFA  |  DISEASES
4318  |  MMP9  |  DISEASES
5456  |  POU3F4  |  DISEASES
7099  |  TLR4  |  DISEASES
3397  |  ID1  |  DISEASES
1041  |  CDSN  |  DISEASES
6520  |  SLC3A2  |  DISEASES
4609  |  MYC  |  DISEASES
650  |  BMP2  |  DISEASES
646480  |  FABP9  |  DISEASES
55858  |  TMEM165  |  DISEASES
93978  |  CLEC6A  |  DISEASES
9875  |  URB1  |  DISEASES
2706  |  GJB2  |  DISEASES
131405  |  TRIM71  |  DISEASES
3875  |  KRT18  |  DISEASES
5650  |  KLK7  |  DISEASES
9244  |  CRLF1  |  DISEASES
5744  |  PTHLH  |  DISEASES
27023  |  FOXB1  |  DISEASES
7110  |  TMF1  |  DISEASES
3384  |  ICAM2  |  DISEASES
7124  |  TNF  |  DISEASES
139728  |  PNCK  |  DISEASES
2263  |  FGFR2  |  DISEASES
100289462  |  DEFB4B  |  DISEASES
727897  |  MUC5B  |  DISEASES
83695  |  RHNO1  |  DISEASES
3851  |  KRT4  |  DISEASES
23601  |  CLEC5A  |  DISEASES
4065  |  LY75  |  DISEASES
820  |  CAMP  |  DISEASES
162514  |  TRPV3  |  DISEASES
7716  |  VEZF1  |  DISEASES
100129528  |  MUC8  |  DISEASES
102723508  |  KANTR  |  DISEASES
79104  |  MEG8  |  DISEASES
Locus(Waiting for update.)
Disease ID 764
Disease cholesteatoma
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:20)
HP:0000388  |  Otitis media  |  50
HP:0000389  |  Chronic otitis media  |  43
HP:0100246  |  Osteoma  |  4
HP:0000175  |  Palatoschisis  |  3
HP:0000718  |  Aggressive behaviour  |  2
HP:0000651  |  Diplopia  |  2
HP:0200040  |  Epidermal inclusion cyst  |  1
HP:0004439  |  Crouzon syndrome  |  1
HP:0000939  |  Osteoporosis  |  1
HP:0002006  |  Tessier facial cleft  |  1
HP:0003774  |  End-stage renal failure  |  1
HP:0009795  |  Branchial cleft fistula  |  1
HP:0003470  |  Inability to move  |  1
HP:0007209  |  Facial paresis  |  1
HP:0000365  |  Hearing impairment  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0000407  |  sensorineural hearing loss  |  1
HP:0002315  |  Headaches  |  1
HP:0000265  |  Mastoiditis  |  1
HP:0030049  |  Brain abscess  |  1
Disease ID 764
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:7)
C0271441  |  chronic otitis media  |  43
C0155509  |  labyrinthine fistula  |  3
C0021311  |  infections  |  2
C1384666  |  hearing loss  |  2
C0011334  |  cavities  |  1
C0015469  |  facial paralysis  |  1
C0339774  |  bezold's abscess  |  1
Manually Genotype(Total Text Mining 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.)
Chemical(Total Drugs:0)
(Waiting for update.)
FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)
FDA labeling changes(Total Drugs:0)
(Waiting for update.)