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 53 73
Hidrotic Ectodermal Dysplasia, Sensorineural Hearing Loss and Contracture of the Fifth Fingers 53
Mikaelian Syndrome 53

Classifications:



External Ids:

UMLS 73 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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