Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	CEROID LIPOFUSCINOSIS, NEURONAL, 2
Synonyms	CEROID LIPOFUSCINOSIS, NEURONAL, 2, VARIABLE AGE AT ONSET
ID	http://purl.bioontology.org/ontology/OMIM/204500
altLabel	CEROID LIPOFUSCINOSIS, NEURONAL, 2, VARIABLE AGE AT ONSET NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE CLN2 LINCL JANSKY-BIELSCHOWSKY DISEASE
cui	C0022340 C1876161
Gene Locus	11p15.5
Gene Symbol	TPP1 CLN2 SCAR7
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU010612 http://purl.bioontology.org/ontology/OMIM/MTHU027659 http://purl.bioontology.org/ontology/OMIM/MTHU003850 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU014509 http://purl.bioontology.org/ontology/OMIM/MTHU014507 http://purl.bioontology.org/ontology/OMIM/MTHU014511 http://purl.bioontology.org/ontology/OMIM/MTHU036363 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU014506 http://purl.bioontology.org/ontology/OMIM/MTHU000310 http://purl.bioontology.org/ontology/OMIM/MTHU004856 http://purl.bioontology.org/ontology/OMIM/MTHU014512 http://purl.bioontology.org/ontology/OMIM/MTHU031279 http://purl.bioontology.org/ontology/OMIM/MTHU000199 http://purl.bioontology.org/ontology/OMIM/MTHU014508
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	204600
notation	204500
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	CEROID LIPOFUSCINOSIS, NEURONAL, 2
tui	T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C566857	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/C566857	Medical Subject Headings	LOOM
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