Cell Culture Ontology

Last uploaded: July 23, 2014

Preferred Name	Emery-Dreifuss muscular dystrophy
Synonyms	Humeroperoneal neuromuscular disease, (formerly) scapuloperoneal syndrome, X-linked (formerly) Emery-Dreifuss muscular dystrophy Emery Dreifuss Muscular Dystrophy EDMD
Definitions	Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
ID	http://purl.obolibrary.org/obo/MONDO_0016830
database_cross_reference	OMIMPS:310300 MEDGEN:96078 SCTID:111508004 icd11.foundation:749295636 Orphanet:261 MESH:D020389 NANDO:1200492 NANDO:2200857 UMLS:C0410189 NCIT:C84685 DOID:11726 GARD:6329 NORD:1084
definition	Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
has_exact_synonym	Emery-Dreifuss muscular dystrophy Emery Dreifuss Muscular Dystrophy EDMD
has_related_synonym	Humeroperoneal neuromuscular disease, (formerly) scapuloperoneal syndrome, X-linked (formerly)
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/5658
id	MONDO:0016830
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder
label	Emery-Dreifuss muscular dystrophy
notation	MONDO:0016830
preferred label	Emery-Dreifuss muscular dystrophy
prefLabel	Emery-Dreifuss muscular dystrophy
skos_exactMatch	http://purl.obolibrary.org/obo/DOID_11726 http://identifiers.org/snomedct/111508004 http://purl.obolibrary.org/obo/NCIT_C84685 http://identifiers.org/medgen/96078 https://omim.org/phenotypicSeries/PS310300 http://identifiers.org/mesh/D020389 http://linkedlifedata.com/resource/umls/id/C0410189 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/749295636 http://purl.obolibrary.org/obo/Orphanet_261
subClassOf	http://purl.obolibrary.org/obo/MONDO_0016106 http://purl.obolibrary.org/obo/MONDO_0016333

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0016830	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016830	EFO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016830	DOVES	SAME_URI
http://purl.obolibrary.org/obo/DOID_11726	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0016830	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_11726	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_11726	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_11726	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_11726	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_11726	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_11726	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_11726	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_11726	FNS-H	LOOM
http://www.ebi.ac.uk/efo/EFO_0000463	CLO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Emery-Dreifuss_Muscular_Dystrophy	CSEO	LOOM
http://purl.bioontology.org/ontology/RCTV2/F391A00	RCTV2	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10081544	MEDDRA	LOOM
http://nanbyodata.jp/ontology/NANDO_2200857	NANDO	LOOM
rgo:27394	GAMUTS	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_11726	NATPRO	LOOM
http://nanbyodata.jp/ontology/NANDO_1200492	NANDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C84685	BERO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/111508004	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/MONDO_0016830	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0016830	DOVES	LOOM
http://purl.bioontology.org/ontology/RCD/X708i	RCD	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84685	NCIT	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_59	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_261	ORDO	LOOM