Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	MUSCULAR DYSTROPHY, BECKER TYPE
Synonyms	BECKER MUSCULAR DYSTROPHY BMD MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE
ID	http://purl.bioontology.org/ontology/OMIM/300376
altLabel	BECKER MUSCULAR DYSTROPHY BMD MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, BECKER TYPE
cui	C0917713
Gene Locus	Xp21.2
Gene Symbol	CMD3B DMD BMD
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU007172 http://purl.bioontology.org/ontology/OMIM/MTHU042230 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU036428 http://purl.bioontology.org/ontology/OMIM/MTHU007170 http://purl.bioontology.org/ontology/OMIM/MTHU028783 http://purl.bioontology.org/ontology/OMIM/MTHU042229 http://purl.bioontology.org/ontology/OMIM/MTHU007169
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300376
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MUSCULAR DYSTROPHY, BECKER TYPE
Scope Statement	Survival to advanced age [MISCELLANEOUS] Usual age of onset in the 20s and 30s [MISCELLANEOUS] Caused by mutation in the dystrophin gene (DMD, 300377.0002) [MOLECULAR BASIS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SCTSPA/387732009	SCTSPA	CUI
http://purl.bioontology.org/ontology/CSP/1849-6662	CRISP	CUI
http://purl.bioontology.org/ontology/CSP/5006-0010	CRISP	CUI
http://purl.bioontology.org/ontology/MDRGER/10059117	MDRGER	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/387732009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020388	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/F3918	RCD	CUI
http://purl.bioontology.org/ontology/MESH/D020388	MESH	CUI
http://purl.bioontology.org/ontology/RCD/Xa9Bp	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10059117	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10059117	MDRFRE	CUI