Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene. [ MONDO:patterns/disease_series_by_gene ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C563855 (MONDO:equivalentTo)
  • ICD10:E75.2 (Orphanet:280282)
  • UMLS:C1837355 (Orphanet:280282)
  • Orphanet:280282 (OMIM:608804)
  • OMIM:608804 (Orphanet:280282)
  • DOID:0060787 (MONDO:equivalentTo)
Subsets

ordo_clinical_subtype

abbreviation
PMLD1 [ Orphanet:280282 DOID:0060787 ]

abbreviation
HLD2 [ https://omim.org/entry/608804 DOID:0060787 MONDO:Lexical ]

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.

exactMatch

http://purl.obolibrary.org/obo/DOID_0060787

http://identifiers.org/mesh/C563855

http://linkedlifedata.com/resource/umls/id/C1837355

http://identifiers.org/omim/608804

http://www.orpha.net/ORDO/Orphanet_280282

has exact synonym

leukodystrophy, hypomyelinating, type 2

HLD2

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

PMLD1

GJC2 leukodystrophy

Pelizaeus-Merzbacher-like disease 1

leukodystrophy caused by mutation in GJC2

hypomyelinating leukodystrophy type 2

has related synonym

Pelizaeus-Merzbacher-like disease, 1

leukodystrophy, hypomyelinating, 2

id

MONDO:0012125