Cigarette Smoke Exposure Ontology

Last uploaded: July 10, 2014

Preferred Name	Mucolipidosis Type IV
Synonyms
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucolipidosis_Type_IV
DEFINITION	An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities.
isDefinedBy	An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities.
label	Mucolipidosis Type IV
prefixIRI	Thesaurus:Mucolipidosis_Type_IV
prefLabel	Mucolipidosis Type IV
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucolipidosis

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0080490	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0009653	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009653	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0080490	DOID	LOOM
http://purl.bioontology.org/ontology/RCD/X40VB	RCD	LOOM
http://identifiers.org/omim/252650	REXO	LOOM
http://identifiers.org/omim/252650	GEXO	LOOM
http://identifiers.org/omim/252650	RETO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/725296006	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/DOID_0080490	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080490	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080490	FNS-H	LOOM
http://purl.obolibrary.org/obo/NCIT_C84896	BERO	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/untitled-ontology-14#IRD_6_71	HAMIDEHSGH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84896	NCIT	LOOM
http://purl.obolibrary.org/obo/OMIM_252650	CCO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072930	MEDDRA	LOOM
http://purl.obolibrary.org/obo/MONDO_0009653	DOVES	LOOM
http://www.orpha.net/ORDO/Orphanet_578	ORDO	LOOM