autosomal dominant nonsyndromic hearing loss

Go to external page http://purl.obolibrary.org/obo/MONDO_0019587


Autosomal dominant form of nonsyndromic deafness. [ MONDO:patterns/autosomal_dominant ]

Synonyms: autosomal dominant non-syndromic sensorineural hearing loss type DFNA autosomal dominant isolated neurosensory hearing loss type DFNA autosomal dominant non-syndromic neurosensory hearing loss type DFNA autosomal dominant isolated sensorineural hearing loss type DFNA autosomal dominant nonsyndromic hearing impairment autosomal dominant nonsyndromic hearing loss

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050564 (MONDO:equivalentTo)
  • MEDGEN:1843285 (MONDO:equivalentTo)
  • UMLS:C5779548 (MONDO:equivalentTo)
  • Orphanet:90635 (MONDO:equivalentTo)
  • GARD:16791 (MONDO:GARD)
  • OMIMPS:124900 (MONDO:equivalentTo)
Subsets

gard_rare, otar, rare, ordo_subtype_of_a_disorder, nord_rare, clingen, ordo_etiological_subtype

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/551

exactMatch

https://omim.org/phenotypicSeries/PS124900

http://www.orpha.net/ORDO/Orphanet_90635

http://purl.obolibrary.org/obo/DOID_0050564

http://identifiers.org/medgen/1843285

http://linkedlifedata.com/resource/umls/id/C5779548

has broad synonym

autosomal dominant deafness

has narrow synonym

nonsyndromic deafness, autosomal dominant

deafness, autosomal dominant

autosomal dominant isolated neurosensory deafness type DFNA

autosomal dominant isolated sensorineural deafness type DFNA

autosomal dominant nonsyndromic genetic deafness

autosomal dominant isolated deafness

nonsyndromic genetic deafness, autosomal dominant

autosomal dominant nonsyndromic deafness

autosomal dominant nonsyndromic hearing loss and deafness

autosomal dominant non-syndromic sensorineural deafness type DFNA

autosomal dominant non-syndromic neurosensory deafness type DFNA

id

MONDO:0019587