Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Becker muscular dystrophy

Synonyms

Becker dystrophinopathy

Definitions

A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

ID

http://www.orpha.net/ORDO/Orphanet_98895

alternative_term

Becker dystrophinopathy

BMD

definition

A rare, genetic muscular dystrophy characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=98895

has_age_of_onset

Adolescent

Adult

Childhood

Elderly

has_inheritance

X-linked recessive

hasDbXref

ICD-10:G71.0

ICD-11:8C70.0

OMIM:159050

OMIM:300376

MedDRA:10059117

UMLS:C0917713

label

Becker muscular dystrophy

notation

ORPHA:98895

part_of

http://www.orpha.net/ORDO/Orphanet_262

http://www.orpha.net/ORDO/Orphanet_207085

prefixIRI

ORDO:Orphanet_98895

prefLabel

Becker muscular dystrophy

present_in

South Africa AND has_point_prevalence_average_value : 0.07 AND has_point_prevalence_range : <1 / 1 000 000

Ireland AND has_point_prevalence_average_value : 1.59 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_point_prevalence_average_value : 2.0 AND has_point_prevalence_range : 1-9 / 100 000

Worldwide AND has_point_prevalence_average_value : 1.53 AND has_point_prevalence_range : 1-9 / 100 000

Japan AND has_point_prevalence_average_value : 0.91 AND has_point_prevalence_range : 1-9 / 1 000 000

United States AND has_birth_prevalence_average_value : 2.5 AND has_birth_prevalence_range : 1-9 / 100 000

Italy AND has_point_prevalence_average_value : 2.47 AND has_point_prevalence_range : 1-9 / 100 000

United Kingdom AND has_point_prevalence_average_value : 3.64 AND has_point_prevalence_range : 1-9 / 100 000

Puerto rico AND has_point_prevalence_average_value : 1.42 AND has_point_prevalence_range : 1-9 / 100 000

Europe AND has_birth_prevalence_average_value : 2.2 AND has_birth_prevalence_range : 1-9 / 100 000

Egypt AND has_point_prevalence_average_value : 3.94 AND has_point_prevalence_range : 1-9 / 100 000

United States AND has_point_prevalence_average_value : 2.4 AND has_point_prevalence_range : 1-9 / 100 000

United Kingdom AND has_birth_prevalence_average_value : 2.7 AND has_birth_prevalence_range : 1-9 / 100 000

treeView

http://www.orpha.net/ORDO/Orphanet_262

http://www.orpha.net/ORDO/Orphanet_207085

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_98895 EFO 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.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 EFO 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
http://www.gamuts.net/entity#Becker_muscular_dystrophy GAMUTS REST