Online Mendelian Inheritance in Man - CEROID LIPOFUSCINOSIS, NEURONAL, 9 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609055 http://purl.bioontology.org/ontology/OMIM/609055
Preferred Name	CEROID LIPOFUSCINOSIS, NEURONAL, 9
Synonyms	CLN9
Type	http://www.w3.org/2002/07/owl#Class

altLabel	CLN9
prefLabel	CEROID LIPOFUSCINOSIS, NEURONAL, 9
Scope Statement	Similar phenotype to juvenile neuronal ceroid lipofuscinosis 3 (CLN3, 204200) [MISCELLANEOUS] One family has been reported (last curated March 2016) [MISCELLANEOUS] Onset at 4 years of age [MISCELLANEOUS] Early death [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU001334 http://purl.bioontology.org/ontology/OMIM/MTHU001337 http://purl.bioontology.org/ontology/OMIM/MTHU029840 http://purl.bioontology.org/ontology/OMIM/MTHU001346 http://purl.bioontology.org/ontology/OMIM/MTHU001335 http://purl.bioontology.org/ontology/OMIM/MTHU001336 http://purl.bioontology.org/ontology/OMIM/MTHU001344 http://purl.bioontology.org/ontology/OMIM/MTHU001339 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU001349 http://purl.bioontology.org/ontology/OMIM/MTHU001353 http://purl.bioontology.org/ontology/OMIM/MTHU001345 http://purl.bioontology.org/ontology/OMIM/MTHU000322 http://purl.bioontology.org/ontology/OMIM/MTHU001340 http://purl.bioontology.org/ontology/OMIM/MTHU001347 http://purl.bioontology.org/ontology/OMIM/MTHU001343 http://purl.bioontology.org/ontology/OMIM/MTHU000301 http://purl.bioontology.org/ontology/OMIM/MTHU000133 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU001341 http://purl.bioontology.org/ontology/OMIM/MTHU001342 http://purl.bioontology.org/ontology/OMIM/MTHU031653 http://purl.bioontology.org/ontology/OMIM/MTHU001338 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	609055
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1836841
OMIM Entry Type	5
OMIM MimType Value	perc

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