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
Term relations
Equivalent to:
- hearing loss disorder and has characteristic some has an isolated presentation and has characteristic some inherited
Subclass of:
- hearing loss disorder
- inherited auditory system disease
- has characteristic some rare
- has characteristic some has an isolated presentation
Related from: