Experimental Factor Ontology

Last uploaded: May 15, 2024
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Preferred Name

obsolete Duchenne and Becker muscular dystrophy
Synonyms

severe dystrophinopathy, Duchenne and Becker type
Definitions

OBSOLETE. Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
ID

http://purl.obolibrary.org/obo/MONDO_0016899
Obsolete

true
database_cross_reference

UMLS:C3542021

Orphanet:262

GARD:18686
definition

OBSOLETE. Duchenne and Becker muscular dystrophies (DMD and BMD) are neuromuscular diseases characterized by progressive muscle wasting and weakness due to degeneration of skeletal, smooth and cardiac muscle.
deprecated

true
exactMatch

http://linkedlifedata.com/resource/umls/id/C3542021

http://purl.obolibrary.org/obo/Orphanet_262
has_exact_synonym

severe dystrophinopathy, Duchenne and Becker type
IAO_0000231

http://purl.obolibrary.org/obo/OMO_0001000
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/6740

https://github.com/monarch-initiative/mondo/issues/6877

https://github.com/monarch-initiative/mondo/issues/6751

https://github.com/monarch-initiative/mondo/issues/5114

https://github.com/monarch-initiative/mondo/issues/6752
id

MONDO:0016899
in_subset

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

http://purl.obolibrary.org/obo/mondo#otar

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

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders
label

obsolete Duchenne and Becker muscular dystrophy
notation

MONDO:0016899
prefLabel

obsolete Duchenne and Becker muscular dystrophy
term replaced by

http://www.ebi.ac.uk/efo/EFO_0700060
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