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
  • SCTID:42012007 (MONDO:equivalentTo)
  • UMLS:C0027877 (Orphanet:216/e)
  • ICD10CM:E75.4 (Orphanet:216/specific)
  • OMIMPS:256730 (MONDO:equivalentTo)
  • Orphanet:216 (MONDO:equivalentTo)
  • GARD:0010739 (MONDO:equivalentTo)
  • NCIT:C61257 (MONDO:equivalentTo)
  • DOID:14503 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
NCL [ Orphanet : 216 ]
definition
  • 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://purl.bioontology.org/ontology/ICD10CM/E75.4
  • http://purl.obolibrary.org/obo/DOID_14503
  • http://identifiers.org/snomedct/42012007
  • http://www.orpha.net/ORDO/Orphanet_216
  • https://omim.org/phenotypicSeries/PS256730
  • http://purl.obolibrary.org/obo/NCIT_C61257
  • http://linkedlifedata.com/resource/umls/id/C0027877
has exact synonym
  • neuronal ceroid lipofuscinosis
  • NCL
  • hereditary ceroid lipofuscinosis
  • ceroid lipofuscinoses
id
  • MONDO:0016295
should conform to
  • http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml