MCID: CNG091
MIFTS: 7

Congenital Ectodermal Dysplasia with Hearing Loss

Categories: Rare diseases

Aliases & Classifications for Congenital Ectodermal Dysplasia with Hearing Loss

MalaCards integrated aliases for Congenital Ectodermal Dysplasia with Hearing Loss:

Name: Congenital Ectodermal Dysplasia with Hearing Loss 54 74
Hidrotic Ectodermal Dysplasia, Sensorineural Hearing Loss and Contracture of the Fifth Fingers 54
Mikaelian Syndrome 54

Classifications:



External Ids:

UMLS 74 C2931012

Summaries for Congenital Ectodermal Dysplasia with Hearing Loss

MalaCards based summary : Congenital Ectodermal Dysplasia with Hearing Loss, also known as hidrotic ectodermal dysplasia, sensorineural hearing loss and contracture of the fifth fingers, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and ectodermal dysplasia.

Related Diseases for Congenital Ectodermal Dysplasia with Hearing Loss

Diseases related to Congenital Ectodermal Dysplasia with Hearing Loss via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
2 ectodermal dysplasia 10.1

Symptoms & Phenotypes for Congenital Ectodermal Dysplasia with Hearing Loss

Drugs & Therapeutics for Congenital Ectodermal Dysplasia with Hearing Loss

Search Clinical Trials , NIH Clinical Center for Congenital Ectodermal Dysplasia with Hearing Loss

Genetic Tests for Congenital Ectodermal Dysplasia with Hearing Loss

Anatomical Context for Congenital Ectodermal Dysplasia with Hearing Loss

Publications for Congenital Ectodermal Dysplasia with Hearing Loss

Articles related to Congenital Ectodermal Dysplasia with Hearing Loss:

# Title Authors Year
1
Congenital ectodermal dysplasia with hearing loss. ( 5422345 )
1970

Variations for Congenital Ectodermal Dysplasia with Hearing Loss

Expression for Congenital Ectodermal Dysplasia with Hearing Loss

Search GEO for disease gene expression data for Congenital Ectodermal Dysplasia with Hearing Loss.

Pathways for Congenital Ectodermal Dysplasia with Hearing Loss

GO Terms for Congenital Ectodermal Dysplasia with Hearing Loss

Sources for Congenital Ectodermal Dysplasia with Hearing Loss

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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