Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

Preferred Name	mucolipidosis
Synonyms
Definitions	A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.
ID	http://purl.obolibrary.org/obo/MONDO_0019248
label	mucolipidosis
prefixIRI	MONDO:0019248
prefLabel	mucolipidosis
textual definition	A group of inherited lysosomal storage diseases characterized by accumulation of lipids and carbohydrates in the tissues, resulting in mental disabilities and skeletal malformations.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0017731 http://purl.obolibrary.org/obo/MONDO_0015327

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0019248	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019248	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0019248	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_0080488	DOID	LOOM
rgo:19579	GAMUTS	LOOM
http://purl.obolibrary.org/obo/DOID_3343	CLO	LOOM
http://purl.obolibrary.org/obo/MONDO_0019248	MONDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Mucolipidosis	CSEO	LOOM
http://www.orpha.net/ORDO/Orphanet_79212	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/70528007	SNOMEDCT	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_3343	NATPRO	LOOM
http://purl.obolibrary.org/obo/DOID_0080488	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_0080488	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0080488	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0080488	FNS-H	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072939	MEDDRA	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11238	HRDO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61267	NCIT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0026697	OCHV	LOOM
http://purl.jp/bio/4/id/200906071386449504	IOBC	LOOM
http://purl.obolibrary.org/obo/NCIT_C61267	BERO	LOOM