Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. [ Orphanet:104 ]

This is just here as a test because I lose it

Term information

database cross reference
  • OMIM:535000 (Orphanet:104)
  • UMLS:C0917796 (Orphanet:104)
  • Orphanet:104 (OMIM:535000)
  • MESH:D029242 (MONDO:equivalentTo)
  • ICD10:H47.22 (DOID:705)
  • SCTID:58610003 (MONDO:equivalentTo)
  • DOID:705 (MONDO:equivalentTo)
  • GARD:0006870 (Orphanet-shared)
  • ICD10:H47.2 (Orphanet:104)
  • NCIT:C84808 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
LHON [ Orphanet:104 ]

closeMatch

http://identifiers.org/snomedct/194045006

http://identifiers.org/snomedct/230510002

definition

Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.

exactMatch

http://purl.obolibrary.org/obo/DOID_705

http://www.orpha.net/ORDO/Orphanet_104

http://identifiers.org/snomedct/58610003

http://identifiers.org/mesh/D029242

http://linkedlifedata.com/resource/umls/id/C0917796

http://purl.obolibrary.org/obo/NCIT_C84808

http://identifiers.org/omim/535000

has exact synonym

Leber's optic atrophy

Leber Hereditary optic atrophy

Leber's hereditary optic neuropathy

Leber optic atrophy

LHON

Leber hereditary optic neuropathy

has related synonym

Leber’s disease

optic atrophy, Leber type

id

MONDO:0010788