Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina. [ Orphanet:216 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0010739 (Orphanet-shared)
  • UMLS:C0027877 (Orphanet:216)
  • Orphanet:216 (MONDO:equivalentTo)
  • DOID:14503 (MONDO:equivalentTo)
  • ICD10:E75.4 (Orphanet:216)
  • OMIMPS:256730 (MONDO:equivalentTo)
  • NCIT:C61257 (MONDO:equivalentTo)
  • SCTID:42012007 (MONDO:equivalentTo)
Subsets

ordo_group_of_disorders

abbreviation
NCL [ Orphanet:216 ]

definition

Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

exactMatch

http://identifiers.org/mesh/D009472

http://linkedlifedata.com/resource/umls/id/C0027877

http://www.orpha.net/ORDO/Orphanet_216

http://purl.obolibrary.org/obo/DOID_14503

http://purl.obolibrary.org/obo/NCIT_C61257

http://identifiers.org/snomedct/42012007

has exact synonym

NCL

ceroid lipofuscinoses

hereditary ceroid lipofuscinosis

id

MONDO:0016295

should conform to

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