Orphanet Rare Disease Ontology

Last uploaded: December 4, 2024

Id	http://www.orpha.net/ORDO/Orphanet_261 http://www.orpha.net/ORDO/Orphanet_261
Preferred Name	Emery-Dreifuss muscular dystrophy
Definitions	A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
Synonyms	EDMD
Type	http://www.w3.org/2002/07/owl#Class

definition_citation	Orphanet
definition	A neuromuscular disease that is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy.
label	Emery-Dreifuss muscular dystrophy
prefLabel	Emery-Dreifuss muscular dystrophy
hasDbXref	ICD-10:G71.0 OMIM:310300 OMIM:612998 OMIM:612999 OMIM:614302 ICD-11:8C70.2 OMIM:616516 OMIM:300696 UMLS:C0410189 OMIM:181350 MeSH:D020389 MedDRA:10081544 See more See less
notation	ORPHA:261
alternative_term	EDMD
present_in	Europe AND has_point_prevalence_average_value : 0.3 AND has_point_prevalence_range : 1-9 / 1 000 000
part_of	http://www.orpha.net/ORDO/Orphanet_206644 http://www.orpha.net/ORDO/Orphanet_217610 http://www.orpha.net/ORDO/Orphanet_611314
prefixIRI	ORDO:Orphanet_261
expertlink	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=261
subClassOf	http://www.orpha.net/ORDO/Orphanet_377788 http://www.orpha.net/ORDO/Orphanet_557493
type	http://www.w3.org/2002/07/owl#Class
has_inheritance	Autosomal recessive X-linked recessive Autosomal dominant
has_age_of_onset	Childhood
treeView	http://www.orpha.net/ORDO/Orphanet_206644 http://www.orpha.net/ORDO/Orphanet_217610 http://www.orpha.net/ORDO/Orphanet_611314

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