Mondo Disease Ontology

Last uploaded: December 3, 2024
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

database_cross_reference

GARD:5900

MEDGEN:182959

NCIT:C84587

MESH:C570377

SCTID:387732009

icd11.foundation:690532643

MedDRA:10059117

UMLS:C0917713

NANDO:1200489

OMIM:300376

DOID:9883

Orphanet:98895

NANDO:2200865

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.

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/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare

label

Becker muscular dystrophy

notation

MONDO:0010311

prefLabel

Becker muscular dystrophy

seeAlso

https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy

skos_closeMatch

http://identifiers.org/meddra/10059117

skos_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://identifiers.org/medgen/182959

http://purl.obolibrary.org/obo/Orphanet_98895

http://purl.obolibrary.org/obo/NCIT_C84587

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/690532643

treeView

http://purl.obolibrary.org/obo/MONDO_0020121

subClassOf

http://purl.obolibrary.org/obo/MONDO_0020121

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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0010311 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010311 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0010311 EFO SAME_URI
http://purl.obolibrary.org/obo/DOID_9883 DOID LOOM
http://nanbyodata.jp/ontology/NANDO_2200865 NANDO LOOM
rgo:23220 GAMUTS LOOM
http://bmi.utah.edu/ontologies/hfontology/C0917713 HFO LOOM
http://www.orpha.net/ORDO/Orphanet_98895 ORDO LOOM
http://purl.bioontology.org/ontology/RCTV2/F391800 RCTV2 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 DDSS 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010311 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0010311 EFO 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