Mondo Disease Ontology - adult neuronal ceroid lipofuscinosis - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0019260 http://purl.obolibrary.org/obo/MONDO_0019260
Preferred Name	adult neuronal ceroid lipofuscinosis
Definitions	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.
Synonyms	neuronal ceroid lipofuscinosis 4 CLN4 disease, adult autosomal dominant Kuf's disease Kufs disease ANCL adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis of adults adult NCL
Type	http://www.w3.org/2002/07/owl#Class

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.
label	adult neuronal ceroid lipofuscinosis
prefLabel	adult neuronal ceroid lipofuscinosis
database_cross_reference	SCTID:62009002 NANDO:1200155 icd11.foundation:1460031344 NORD:1341 MEDGEN:7230 GARD:10973 NANDO:2201244 UMLS:C0022797 Orphanet:79262 See more See less
notation	MONDO:0019260
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
has_related_synonym	neuronal ceroid lipofuscinosis 4 CLN4 disease, adult autosomal dominant Kuf's disease
id	MONDO:0019260
excluded subClassOf	http://purl.obolibrary.org/obo/MONDO_0020074
skos_exactMatch	http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1460031344 http://linkedlifedata.com/resource/umls/id/C0022797 http://identifiers.org/snomedct/62009002 http://identifiers.org/medgen/7230
seeAlso	https://rarediseases.info.nih.gov/diseases/10973/adult-neuronal-ceroid-lipofuscinosis
subClassOf	http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0016295
curated content resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0019260
terms_conformsTo	http://purl.obolibrary.org/obo/mondo/patterns/adult.yaml
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	Kufs disease ANCL adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis of adults adult NCL
treeView	http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0016295

Subscribe to notes emails

Delete	Subject	Author	Type	Created
No notes to display