Online Mendelian Inheritance in Man - MUSCULAR DYSTROPHY, DUCHENNE TYPE - Classes | NCBO OntoPortal Appliance

Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

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Preferred Name	MUSCULAR DYSTROPHY, DUCHENNE TYPE
Synonyms	MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE
ID	http://purl.bioontology.org/ontology/OMIM/310200
altLabel	MUSCULAR DYSTROPHY, PSEUDOHYPERTROPHIC PROGRESSIVE, DUCHENNE TYPE DUCHENNE MUSCULAR DYSTROPHY DMD
cui	C0013264
Gene Locus	Xp21.2
Gene Symbol	CMD3B DMD BMD
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU028937 http://purl.bioontology.org/ontology/OMIM/MTHU025498 http://purl.bioontology.org/ontology/OMIM/MTHU003721 http://purl.bioontology.org/ontology/OMIM/MTHU005753 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU000036 http://purl.bioontology.org/ontology/OMIM/MTHU036428 http://purl.bioontology.org/ontology/OMIM/MTHU007168 http://purl.bioontology.org/ontology/OMIM/MTHU020258 http://purl.bioontology.org/ontology/OMIM/MTHU007170 http://purl.bioontology.org/ontology/OMIM/MTHU007174 http://purl.bioontology.org/ontology/OMIM/MTHU007172 http://purl.bioontology.org/ontology/OMIM/MTHU028939 http://purl.bioontology.org/ontology/OMIM/MTHU000317 http://purl.bioontology.org/ontology/OMIM/MTHU000720 http://purl.bioontology.org/ontology/OMIM/MTHU028936 http://purl.bioontology.org/ontology/OMIM/MTHU028938 http://purl.bioontology.org/ontology/OMIM/MTHU025499 http://purl.bioontology.org/ontology/OMIM/MTHU007169 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU019869 http://purl.bioontology.org/ontology/OMIM/MTHU007173 http://purl.bioontology.org/ontology/OMIM/MTHU007171
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	310200
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MUSCULAR DYSTROPHY, DUCHENNE TYPE
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MEDLINEPLUS/C0013264	MedlinePlus Health Topics	CUI
	http://purl.bioontology.org/ontology/MESH/D020388	Medical Subject Headings	CUI