MCID: DFN342
MIFTS: 7

Deafness with Anhidrotic Ectodermal Dysplasia

Categories: Ear diseases

Aliases & Classifications for Deafness with Anhidrotic Ectodermal Dysplasia

MalaCards integrated aliases for Deafness with Anhidrotic Ectodermal Dysplasia:

Name: Deafness with Anhidrotic Ectodermal Dysplasia 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
deafness with anhidrotic ectodermal dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 125050
MedGen 43 C1852279
SNOMED-CT via HPO 70 263681008 7731005

Summaries for Deafness with Anhidrotic Ectodermal Dysplasia

MalaCards based summary : Deafness with Anhidrotic Ectodermal Dysplasia Related phenotypes are progressive hearing impairment and anhidrotic ectodermal dysplasia

Description from OMIM: 125050

Related Diseases for Deafness with Anhidrotic Ectodermal Dysplasia

Symptoms & Phenotypes for Deafness with Anhidrotic Ectodermal Dysplasia

Human phenotypes related to Deafness with Anhidrotic Ectodermal Dysplasia:

33
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 33 HP:0001730
2 anhidrotic ectodermal dysplasia 33 HP:0007476

Symptoms via clinical synopsis from OMIM:

58
Ears:
progressive hearing loss

Skin:
anhidrotic ectodermal dysplasia

Clinical features from OMIM:

125050

Drugs & Therapeutics for Deafness with Anhidrotic Ectodermal Dysplasia

Search Clinical Trials , NIH Clinical Center for Deafness with Anhidrotic Ectodermal Dysplasia

Genetic Tests for Deafness with Anhidrotic Ectodermal Dysplasia

Anatomical Context for Deafness with Anhidrotic Ectodermal Dysplasia

Publications for Deafness with Anhidrotic Ectodermal Dysplasia

Variations for Deafness with Anhidrotic Ectodermal Dysplasia

Expression for Deafness with Anhidrotic Ectodermal Dysplasia

Search GEO for disease gene expression data for Deafness with Anhidrotic Ectodermal Dysplasia.

Pathways for Deafness with Anhidrotic Ectodermal Dysplasia

GO Terms for Deafness with Anhidrotic Ectodermal Dysplasia

Sources for Deafness with Anhidrotic Ectodermal Dysplasia

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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