Experimental Factor Ontology - adult neuronal ceroid lipofuscinosis - Classes | NCBO BioPortal

Experimental Factor Ontology

Last uploaded: November 18, 2024

Preferred Name	adult neuronal ceroid lipofuscinosis
Synonyms	CLN4 disease, adult autosomal dominant neuronal ceroid lipofuscinosis 4 Kuf's disease adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis of adults Kufs disease ANCL adult NCL
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.
ID	http://purl.obolibrary.org/obo/MONDO_0019260
curated_content_resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0019260
database_cross_reference	Orphanet:79262 MEDGEN:7230 NANDO:2201244 SCTID:62009002 NANDO:1200155 icd11.foundation:1460031344 UMLS:C0022797 GARD:10973 NORD:1341
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://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
has_exact_synonym	adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis of adults Kufs disease ANCL adult NCL
has_related_synonym	CLN4 disease, adult autosomal dominant neuronal ceroid lipofuscinosis 4 Kuf's disease
id	MONDO:0019260
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare
label	adult neuronal ceroid lipofuscinosis
notation	MONDO:0019260
preferred label	adult neuronal ceroid lipofuscinosis
prefLabel	adult neuronal ceroid lipofuscinosis
see also	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
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0020074

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0019260	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019260	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019260	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019260	MONDO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10083868	MEDDRA	LOOM
http://nanbyodata.jp/ontology/NANDO_2201244	NANDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/62009002	SNOMEDCT	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11288	HRDO	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-77150	SNMI	LOOM
http://nanbyodata.jp/ontology/NANDO_1200155	NANDO	LOOM
http://purl.bioontology.org/ontology/RCD/F1011	RCD	LOOM
http://purl.obolibrary.org/obo/MONDO_0019260	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0019260	DOVES	LOOM