JSON

prelingual non-syndromic genetic hearing loss

Go to external page http://purl.obolibrary.org/obo/MONDO_0016297

A rare, genetically highly heterogeneous otorhinolaryngologic disease, resulting from inner and/or middle ear or hearing nerve anomalies, typically characterized by bilateral, severe to profound hearing loss (mean sensorineural hearing impairment of 60 dB or more for 500-, 1,000-, and 2,000-Hz frequency tones in the better ear) which occurs before the onset of speech development and is not associated with visible external ear abnormalities or any other medical problems. It is usually nonprogressive and impedes oral language acquisition. [ https://orcid.org/0000-0001-5208-3432 Orphanet:216445 ]

Synonyms: prelingual non-syndromic genetic hearing loss

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4706679 (MONDO:equivalentTo)
  • SCTID:764098007 (MONDO:equivalentTo)
  • MEDGEN:1647959 (MONDO:equivalentTo)
  • Orphanet:216445 (MONDO:equivalentObsolete)
Subsets

gard_rare, rare

IAO 0000233

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

exactMatch

http://linkedlifedata.com/resource/umls/id/C4706679

http://identifiers.org/medgen/1647959

http://identifiers.org/snomedct/764098007

has narrow synonym

prelingual non-syndromic genetic deafness

isolated prelingual genetic deafness

id

MONDO:0016297

Term relations