Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/609500 http://purl.bioontology.org/ontology/OMIM/609500
Preferred Name	MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	MYOPATHY, AUTOPHAGIC VACUOLAR, INFANTILE-ONSET
Scope Statement	Overlapping pathologic features with X-linked myopathy with excessive autophagy (XMEA, 310440) [MISCELLANEOUS] Early lethality [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000735 http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU029913 http://purl.bioontology.org/ontology/OMIM/MTHU000185 http://purl.bioontology.org/ontology/OMIM/MTHU000739 http://purl.bioontology.org/ontology/OMIM/MTHU028763 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU000733 http://purl.bioontology.org/ontology/OMIM/MTHU000734 See more See less
tui	T047
MIMTYPEMEANING	Mendelian phenotype or locus, molecular basis unknown.
notation	609500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016 http://purl.bioontology.org/ontology/OMIM/MTHU000251
cui	C2931230
OMIM Entry Type	5
OMIM MimType Value	perc

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