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adult neuronal ceroid lipofuscinosis

^ http://purl.obolibrary.org/obo/MONDO_0019260

A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. [ Orphanet:79262 ]

Term info

database cross reference
  • SCTID:62009002 (MONDO:equivalentTo)
  • UMLS:C0022797 (Orphanet:79262/e)
  • UMLS:CN205864 (MONDO:equivalentTo)
  • Orphanet:79262 (MONDO:equivalentTo)
  • GARD:0010973 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
ANCL [ Orphanet:79262 ]

definition

A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration.

exactMatch

http://identifiers.org/snomedct/62009002, http://linkedlifedata.com/resource/umls/id/CN205864, http://purl.obolibrary.org/obo/Orphanet_79262, http://linkedlifedata.com/resource/umls/id/C0022797

has exact synonym

adult neuronal ceroid lipofuscinosis, Kufs disease, neuronal ceroid lipofuscinosis of adults, ANCL, adult NCL

has related synonym

Kuf's disease, neuronal ceroid lipofuscinosis 4, CLN4 disease, adult autosomal dominant

id

MONDO:0019260

seeAlso

https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis