Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/600143 http://purl.bioontology.org/ontology/OMIM/600143
Preferred Name	CEROID LIPOFUSCINOSIS, NEURONAL, 8
Synonyms	CLN8
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CLN8
prefLabel	CEROID LIPOFUSCINOSIS, NEURONAL, 8
Gene Symbol	CLN8 EPMR
Scope Statement	Allelic disorder to Northern epilepsy (610003) [MISCELLANEOUS] Most patients lose ambulation 2 years after onset [MISCELLANEOUS] Onset age 2 to 7 years [MISCELLANEOUS] Caused by mutations in the CLN8 transmembrane ER and ERGIC protein gene (CLN8, 607837.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000403 http://purl.bioontology.org/ontology/OMIM/MTHU036363 http://purl.bioontology.org/ontology/OMIM/MTHU000136 http://purl.bioontology.org/ontology/OMIM/MTHU031279 http://purl.bioontology.org/ontology/OMIM/MTHU000310 http://purl.bioontology.org/ontology/OMIM/MTHU001319 http://purl.bioontology.org/ontology/OMIM/MTHU000394 http://purl.bioontology.org/ontology/OMIM/MTHU006585 http://purl.bioontology.org/ontology/OMIM/MTHU003850 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	8p23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	600143
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1838570
OMIM Entry Type	3
OMIM MimType Value	pound

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