Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	MYOPATHY, DISTAL, WITH RIMMED VACUOLES
Synonyms	DMRV
ID	http://purl.bioontology.org/ontology/OMIM/617158
altLabel	DMRV
cui	C1853926
Gene Locus	5q35
Gene Symbol	NADGP DMRV P62 PDB3 SQSTM1 FTDALS3
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU056272 http://purl.bioontology.org/ontology/OMIM/MTHU056273 http://purl.bioontology.org/ontology/OMIM/MTHU003217 http://purl.bioontology.org/ontology/OMIM/MTHU034716 http://purl.bioontology.org/ontology/OMIM/MTHU056270 http://purl.bioontology.org/ontology/OMIM/MTHU000798 http://purl.bioontology.org/ontology/OMIM/MTHU055903 http://purl.bioontology.org/ontology/OMIM/MTHU001005 http://purl.bioontology.org/ontology/OMIM/MTHU032338 http://purl.bioontology.org/ontology/OMIM/MTHU002207 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU001598 http://purl.bioontology.org/ontology/OMIM/MTHU056274 http://purl.bioontology.org/ontology/OMIM/MTHU033373 http://purl.bioontology.org/ontology/OMIM/MTHU056271 http://purl.bioontology.org/ontology/OMIM/MTHU034431 http://purl.bioontology.org/ontology/OMIM/MTHU003169 http://purl.bioontology.org/ontology/OMIM/MTHU000327 http://purl.bioontology.org/ontology/OMIM/MTHU002841
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617158
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	MYOPATHY, DISTAL, WITH RIMMED VACUOLES
tui	T047

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C536816	Medical Subject Headings	CUI