DFNA18
MCID: DFN149
MIFTS: 19
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Deafness, Autosomal Dominant 18 (DFNA18)
Categories:
Blood diseases, Cardiovascular diseases, Ear diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Deafness, Autosomal Dominant 18:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
onset in first decade of life affecting first higher frequencies, then middle to lower frequencies with age based on one 4-generation german family (last curated august 2015) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Ear diseases Blood diseases Neuronal diseases Cardiovascular diseases
ICD10:
33
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Disease Ontology
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12
An autosomal dominant nonsyndromic deafness that has material basis in variation in the chromosome region 3q22.
MalaCards based summary : Deafness, Autosomal Dominant 18, also known as autosomal dominant nonsyndromic deafness 18, is related to autosomal dominant nonsyndromic deafness and branchiootic syndrome 1. An important gene associated with Deafness, Autosomal Dominant 18 is DFNA18 (Deafness, Autosomal Dominant 18). Related phenotype is progressive hearing impairment. |
Human phenotypes related to Deafness, Autosomal Dominant 18:32
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Articles related to Deafness, Autosomal Dominant 18:
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Search
GEO
for disease gene expression data for Deafness, Autosomal Dominant 18.
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