JSON

nonsyndromic genetic hearing loss

^ http://purl.obolibrary.org/obo/MONDO_0019497


A disease characterized by hearing loss that is not part of a larger syndrome. [ MONDO:patterns/isolated ]

Term info

database cross reference
  • Orphanet:87884 (MONDO:equivalentTo)
  • GARD:0006410 (MONDO:equivalentTo)
  • UMLS:CN043648 (MONDO:equivalentTo)
  • MESH:C580334 (MONDO:equivalentTo)
  • DOID:0050563 (MONDO:equivalentTo)
  • EFO:0009076 (MONDO:equivalentTo)
Subsets

gard_rare, disease_grouping, ordo_group_of_disorders

IAO 0000233

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

definition

A disease characterized by hearing loss that is not part of a larger syndrome.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_87884, http://purl.obolibrary.org/obo/DOID_0050563, http://linkedlifedata.com/resource/umls/id/CN043648, http://identifiers.org/mesh/C580334

has broad synonym

nonsyndromic deafness, nonsyndromic hearing loss

has exact synonym

nonsyndromic hereditary hearing loss

has narrow synonym

familial deafness, isolated genetic deafness, nonsyndromic genetic deafness, non-syndromic genetic deafness

id

MONDO:0019497

seeAlso

https://rarediseases.info.nih.gov/diseases/6410/familial-deafness