neuronal ceroid lipofuscinosis
http://purl.obolibrary.org/obo/MONDO_0016295
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 ]
Term info
- Orphanet:216 (MONDO:equivalentTo)
- ICD10CM:E75.4 (Orphanet:216/specific)
- OMIMPS:256730 (MONDO:equivalentTo)
- DOID:14503 (MONDO:equivalentTo)
- GARD:0010739 (MONDO:equivalentTo)
- UMLS:C0027877 (Orphanet:216/e)
- SCTID:42012007 (MONDO:equivalentTo)
- NCIT:C61257 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
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.
http://purl.obolibrary.org/obo/Orphanet_216, http://linkedlifedata.com/resource/umls/id/C0027877, http://purl.bioontology.org/ontology/ICD10CM/E75.4, http://purl.obolibrary.org/obo/DOID_14503, http://identifiers.org/snomedct/42012007, http://purl.obolibrary.org/obo/NCIT_C61257, https://omim.org/phenotypicSeries/PS256730
ceroid lipofuscinoses, NCL, neuronal ceroid lipofuscinosis, hereditary ceroid lipofuscinosis
MONDO:0016295