Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023

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Preferred Name	Laurence-Moon syndrome
Synonyms	Laurence-Moon syndrome LMS Laurence-MOON syndrome LNMS Laurence-Moon-Biedl syndrome
Definitions	A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
ID	http://purl.obolibrary.org/obo/MONDO_0009514
has_exact_synonym	Laurence-Moon syndrome LMS
has_related_synonym	Laurence-MOON syndrome LNMS Laurence-Moon-Biedl syndrome
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5588
label	Laurence-Moon syndrome
prefixIRI	MONDO:0009514
prefLabel	Laurence-Moon syndrome
seeAlso	https://rarediseases.info.nih.gov/diseases/12635/laurence-moon-syndrome
textual definition	A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
subClassOf	http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0015327 http://purl.obolibrary.org/obo/MONDO_0020240 http://purl.obolibrary.org/obo/MONDO_0015770 http://purl.obolibrary.org/obo/MONDO_0006025 http://purl.obolibrary.org/obo/MONDO_0002320

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0009514	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009514	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009514	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009514	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_1930	DOID	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.509	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_531	HRDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.617.500	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D007849	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/D007849	MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_2377	ORDO	LOOM
http://purl.obolibrary.org/obo/DOID_1930	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_1930	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_1930	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_1930	FNS-H	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038267	PMAPP-PMO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0023138	OCHV	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_6_4_22	HAMIDEHSGH	LOOM
http://purl.obolibrary.org/obo/NCIT_C34760	BERO	LOOM
http://purl.obolibrary.org/obo/OMIT_0008946	OMIT	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#7250	OCHV	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34760	NCIT	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_1930	NATPRO	LOOM
http://purl.bioontology.org/ontology/RCD/X00e1	RCD	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q87.84	ICD10CM	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/232059000	SNOMEDCT	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10056710	MEDDRA	LOOM
http://id.nlm.nih.gov/mesh/D007849	MDM	LOOM
http://purl.jp/bio/4/id/200906051501978183	IOBC	LOOM
http://purl.bioontology.org/ontology/OMIM/245800	OMIM	LOOM
http://www.gamuts.net/entity#Laurence_Moon_syndrome	GAMUTS	LOOM