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hearing loss, autosomal recessive

Go to external page http://purl.obolibrary.org/obo/MONDO_0019588

Autosomal recessive form of nonsyndromic deafness. [ MONDO:patterns/autosomal_recessive ]

Synonyms: hearing loss, autosomal recessive

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:18644 (Orphanet:90636)
  • UMLS:C1846647 (OMIM:607197)
  • OMIMPS:220290 (MONDO:equivalentTo)
  • DOID:0050565 (MONDO:equivalentTo)
  • GARD:18117 (OMIM:607197)
  • OMIM:607197 (MONDO:equivalentTo)
  • Orphanet:90635 (OMIM:607197)
  • MESH:C564609 (MONDO:equivalentTo)
  • Orphanet:90636 (MONDO:equivalentTo)
Subsets

gard_rare, rare, prototype_pattern, nord_rare, orphanet_rare, clingen, ordo_etiological_subtype

IAO 0000233

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

exactMatch

http://identifiers.org/mesh/C564609

https://omim.org/phenotypicSeries/PS220290

http://purl.obolibrary.org/obo/DOID_0050565

https://omim.org/entry/607197

http://linkedlifedata.com/resource/umls/id/C1846647

http://www.orpha.net/ORDO/Orphanet_90636

has narrow synonym

autosomal recessive nonsyndromic genetic deafness

autosomal recessive isolated sensorineural deafness type DFNB

autosomal recessive nonsyndromic deafness

deafness, autosomal recessive

deafness, neurosensory nonsyndromic recessive, DFN

nonsyndromic genetic deafness, autosomal recessive

autosomal recessive non-syndromic sensorineural deafness type DFNB

autosomal recessive isolated neurosensory deafness type DFNB

nonsyndromic deafness, autosomal recessive

autosomal recessive non-syndromic neurosensory deafness type DFNB

id

MONDO:0019588

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0019588