Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
Synonyms	CLN4A
ID	http://purl.bioontology.org/ontology/OMIM/204300
altLabel	CLN4A
cui	C0022797
Gene Locus	15q21-q23
Gene Symbol	CLN4A CLN6
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU002752 http://purl.bioontology.org/ontology/OMIM/MTHU002764 http://purl.bioontology.org/ontology/OMIM/MTHU014513 http://purl.bioontology.org/ontology/OMIM/MTHU014517 http://purl.bioontology.org/ontology/OMIM/MTHU020860 http://purl.bioontology.org/ontology/OMIM/MTHU036363 http://purl.bioontology.org/ontology/OMIM/MTHU031654 http://purl.bioontology.org/ontology/OMIM/MTHU027658 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000310 http://purl.bioontology.org/ontology/OMIM/MTHU014518 http://purl.bioontology.org/ontology/OMIM/MTHU014516 http://purl.bioontology.org/ontology/OMIM/MTHU000940 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU000535 http://purl.bioontology.org/ontology/OMIM/MTHU014514 http://purl.bioontology.org/ontology/OMIM/MTHU020859 http://purl.bioontology.org/ontology/OMIM/MTHU020861
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	204300
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
tui	T047

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/ICD10CM/E75.4	International Classification of Diseases, Version 10 - Clinical Modification	CUI
	http://purl.bioontology.org/ontology/MESH/D009472	Medical Subject Headings	CUI