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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
deafness with anhidrotic ectodermal dysplasia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 125050
MedGen 42 C1852279
SNOMED-CT via HPO 69 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

Symptoms via clinical synopsis from OMIM:

57
Ears:
progressive hearing loss

Skin:
anhidrotic ectodermal dysplasia


Clinical features from OMIM:

125050

Human phenotypes related to Deafness with Anhidrotic Ectodermal Dysplasia:

32
# Description HPO Frequency HPO Source Accession
1 progressive hearing impairment 32 HP:0001730
2 anhidrotic ectodermal dysplasia 32 HP:0007476

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 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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