Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/601003 http://purl.bioontology.org/ontology/OMIM/601003
Preferred Name	BRODY DISEASE
Synonyms	BROD BRODY MYOPATHY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BROD BRODY MYOPATHY
prefLabel	BRODY DISEASE
Gene Symbol	SERCA1 ATP2A1
Scope Statement	Caused by mutation in the ATPase, Ca(2+)-transporting, fast-twitch 1 gene (ATP2A1, 108730.0001) [MOLECULAR BASIS] Onset in the first decade [MISCELLANEOUS] Variable severity [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU074812 http://purl.bioontology.org/ontology/OMIM/MTHU074814 http://purl.bioontology.org/ontology/OMIM/MTHU002773 http://purl.bioontology.org/ontology/OMIM/MTHU074811 http://purl.bioontology.org/ontology/OMIM/MTHU074813 http://purl.bioontology.org/ontology/OMIM/MTHU074817 http://purl.bioontology.org/ontology/OMIM/MTHU074810 http://purl.bioontology.org/ontology/OMIM/MTHU074818 http://purl.bioontology.org/ontology/OMIM/MTHU002772 http://purl.bioontology.org/ontology/OMIM/MTHU074816 http://purl.bioontology.org/ontology/OMIM/MTHU004173 http://purl.bioontology.org/ontology/OMIM/MTHU000798 http://purl.bioontology.org/ontology/OMIM/MTHU074815 See more See less
tui	T047
Gene Locus	16p12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	601003
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1832918
OMIM Entry Type	3
OMIM MimType Value	pound

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