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adult neuronal ceroid lipofuscinosis

Go to external page http://purl.obolibrary.org/obo/MONDO_0019260

Adult neuronal ceroid lipofuscinoses (ANCLs) are 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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C0022797 (Orphanet:79262)
  • ICD10:E75.4 (Orphanet:79262)
  • SCTID:62009002 (MONDO:equivalentTo)
  • Orphanet:79262 (MONDO:equivalentTo)
  • GARD:0010973 (MONDO:equivalentTo)
  • UMLS:CN205864 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
ANCL [ Orphanet:79262 ]

conformsTo

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

definition

Adult neuronal ceroid lipofuscinoses (ANCLs) are 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://identifiers.org/mesh/C537950

http://linkedlifedata.com/resource/umls/id/C0022797

http://linkedlifedata.com/resource/umls/id/C2931675

http://www.orpha.net/ORDO/Orphanet_79262

has exact synonym

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