autosomal dominant nonsyndromic deafness 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0007424


Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
abbreviation
LFHL1 [ DOID:0110541 ]

abbreviation
DFNA1 [ MONDO:Lexical https://omim.org/entry/124900 DOID:0110541 ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1852282

http://identifiers.org/mesh/C565121

http://identifiers.org/omim/124900

http://purl.obolibrary.org/obo/DOID_0110541

has exact synonym

DFNA1

Konigsmark syndrome

hereditary low frequency hearing loss 1

autosomal dominant deafness 1

deafness, autosomal dominant type 1

autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1

LFHL1

autosomal dominant nonsyndromic deafness type 1

DIAPH1 autosomal dominant nonsyndromic deafness

has related synonym

deafness, autosomal dominant 1

hereditary Low frequency hearing loss

deafness, autosomal dominant 1, with or without thrombocytopenia

deafness, progressive Low tone

id

MONDO:0007424