Digital medicine Outcomes Value Set (DOVeS) Ontology

Last uploaded: December 13, 2023
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Preferred Name

Emery-Dreifuss muscular dystrophy
Synonyms

scapuloperoneal syndrome, X-linked (formerly)

Humeroperoneal neuromuscular disease, (formerly)

EDMD

Emery-Dreifuss muscular dystrophy
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
altLabel

scapuloperoneal syndrome, X-linked (formerly)

Humeroperoneal neuromuscular disease, (formerly)

EDMD

Emery-Dreifuss muscular dystrophy
definition

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
has_exact_synonym

EDMD

Emery-Dreifuss muscular dystrophy
has_related_synonym

scapuloperoneal syndrome, X-linked (formerly)

Humeroperoneal neuromuscular disease, (formerly)
label

Emery-Dreifuss muscular dystrophy
prefixIRI

MONDO:0016830
prefLabel

Emery-Dreifuss muscular dystrophy
textual definition

Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
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 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0016830 EFO 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0016830 EFO 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