Experimental Factor Ontology

Last uploaded: April 15, 2024

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Preferred Name	Becker muscular dystrophy
Synonyms	Becker's muscular dystrophy muscular dystrophy, pseudohypertrophic progressive, Becker type muscular dystrophy, Becker type muscular dystrophy pseudohypertrophic progressive, Becker type benign congenital myopathy Becker dystrophinopathy Becker muscular dystrophy benign pseudohypertrophic muscular dystrophy Becker muscular dystrophy, X-linked recessive BMD
Definitions	Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
ID	http://purl.obolibrary.org/obo/MONDO_0010311
closeMatch	http://identifiers.org/meddra/10059117
database_cross_reference	GARD:5900 NCIT:C84587 MESH:C570377 SCTID:387732009 MedDRA:10059117 UMLS:C0917713 OMIM:300376 DOID:9883 Orphanet:98895
definition	Becker muscular dystrophy (BMD) is a neuromuscular disease characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
exactMatch	http://linkedlifedata.com/resource/umls/id/C0917713 http://identifiers.org/snomedct/387732009 http://identifiers.org/mesh/C570377 http://purl.obolibrary.org/obo/DOID_9883 https://omim.org/entry/300376 http://purl.obolibrary.org/obo/Orphanet_98895 http://purl.obolibrary.org/obo/NCIT_C84587
has_exact_synonym	benign congenital myopathy Becker dystrophinopathy Becker muscular dystrophy benign pseudohypertrophic muscular dystrophy Becker muscular dystrophy, X-linked recessive BMD
has_related_synonym	Becker's muscular dystrophy muscular dystrophy, pseudohypertrophic progressive, Becker type muscular dystrophy, Becker type muscular dystrophy pseudohypertrophic progressive, Becker type
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5658
id	MONDO:0010311
in_subset	http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#gard_rare
label	Becker muscular dystrophy
notation	MONDO:0010311
preferred label	Becker muscular dystrophy
prefLabel	Becker muscular dystrophy
see also	https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy
subClassOf	http://purl.obolibrary.org/obo/MONDO_0020121

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0010311	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010311	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010311	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010311	MONDO	LOOM
http://nanbyodata.jp/ontology/NANDO_2200865	NANDO	LOOM
http://bmi.utah.edu/ontologies/hfontology/C0917713	HFO	LOOM
http://www.orpha.net/ORDO/Orphanet_98895	ORDO	LOOM
http://www.gamuts.net/entity#Becker_muscular_dystrophy	GAMUTS	LOOM
http://purl.bioontology.org/ontology/RCTV2/F391800	RCTV2	LOOM
http://purl.obolibrary.org/obo/DOID_9883	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_9883	BAO	LOOM
http://purl.obolibrary.org/obo/DOID_9883	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_9883	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_9883	MIDO	LOOM
http://purl.obolibrary.org/obo/DOID_9883	FNS-H	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/387732009	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/MONDO_0010311	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010311	DOVES	LOOM
http://purl.obolibrary.org/obo/OMIM_300376	CCO	LOOM
http://purl.bioontology.org/ontology/RCD/F3918	RCD	LOOM
http://nanbyodata.jp/ontology/NANDO_1200489	NANDO	LOOM
http://identifiers.org/omim/300376	REXO	LOOM
http://identifiers.org/omim/300376	GEXO	LOOM
http://identifiers.org/omim/300376	RETO	LOOM
http://www.co-ode.org/ontologies/galen#BeckerMuscularDystrophy	GALEN	LOOM
http://id.nlm.nih.gov/mesh/D020388	MDM	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13912	HRDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0917713	OCHV	LOOM