Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/613507 http://purl.bioontology.org/ontology/OMIM/613507
Preferred Name	GLYCOGEN STORAGE DISEASE XV
Synonyms	GSD15 GLYCOGENIN DEFICIENCY GSD XV
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GSD15 GLYCOGENIN DEFICIENCY GSD XV
prefLabel	GLYCOGEN STORAGE DISEASE XV
Gene Symbol	GSD15 GYG1
Scope Statement	Caused by the glycogenin 1 gene (GYG1, 603942.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU034317 http://purl.bioontology.org/ontology/OMIM/MTHU031225 http://purl.bioontology.org/ontology/OMIM/MTHU034315 http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU034314 http://purl.bioontology.org/ontology/OMIM/MTHU034316 http://purl.bioontology.org/ontology/OMIM/MTHU034319 http://purl.bioontology.org/ontology/OMIM/MTHU036516 http://purl.bioontology.org/ontology/OMIM/MTHU034318 See more See less
tui	T047
Gene Locus	3q24-q25.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	613507
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3150754
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display