MCID: ISL023
MIFTS: 6

Isolated Congenital Auditory Ossicle Malformation

Categories: Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Isolated Congenital Auditory Ossicle Malformation

MalaCards integrated aliases for Isolated Congenital Auditory Ossicle Malformation:

Name: Isolated Congenital Auditory Ossicle Malformation 58
Congenital Auditory Ossicle Malformation Without External Ear Abnormality 58

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q16.3
Orphanet 58 ORPHA162526

Summaries for Isolated Congenital Auditory Ossicle Malformation

MalaCards based summary : Isolated Congenital Auditory Ossicle Malformation, also known as congenital auditory ossicle malformation without external ear abnormality, is related to cholesteatoma of middle ear. Affiliated tissues include eye.

Related Diseases for Isolated Congenital Auditory Ossicle Malformation

Diseases related to Isolated Congenital Auditory Ossicle Malformation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cholesteatoma of middle ear 10.4

Symptoms & Phenotypes for Isolated Congenital Auditory Ossicle Malformation

Drugs & Therapeutics for Isolated Congenital Auditory Ossicle Malformation

Search Clinical Trials , NIH Clinical Center for Isolated Congenital Auditory Ossicle Malformation

Genetic Tests for Isolated Congenital Auditory Ossicle Malformation

Anatomical Context for Isolated Congenital Auditory Ossicle Malformation

MalaCards organs/tissues related to Isolated Congenital Auditory Ossicle Malformation:

40
Eye

Publications for Isolated Congenital Auditory Ossicle Malformation

Articles related to Isolated Congenital Auditory Ossicle Malformation:

# Title Authors PMID Year
1
[Congenital auditory ossicle malformation without external ear abnormality]. 61
12708034 2003

Variations for Isolated Congenital Auditory Ossicle Malformation

Expression for Isolated Congenital Auditory Ossicle Malformation

Search GEO for disease gene expression data for Isolated Congenital Auditory Ossicle Malformation.

Pathways for Isolated Congenital Auditory Ossicle Malformation

GO Terms for Isolated Congenital Auditory Ossicle Malformation

Sources for Isolated Congenital Auditory Ossicle Malformation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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