Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

GLYCOGEN STORAGE DISEASE XV

Synonyms

GSD15

ID

http://purl.bioontology.org/ontology/OMIM/613507

altLabel

GSD15

GYG1 DEFICIENCY

GSD XV

GLYCOGENIN DEFICIENCY

cui

C3150754

Gene Locus

3q24-q25.1

Gene Symbol

GSD15

GYG1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU036516

http://purl.bioontology.org/ontology/OMIM/MTHU034319

http://purl.bioontology.org/ontology/OMIM/MTHU034317

http://purl.bioontology.org/ontology/OMIM/MTHU034320

http://purl.bioontology.org/ontology/OMIM/MTHU034314

http://purl.bioontology.org/ontology/OMIM/MTHU031225

http://purl.bioontology.org/ontology/OMIM/MTHU034318

http://purl.bioontology.org/ontology/OMIM/MTHU034315

http://purl.bioontology.org/ontology/OMIM/MTHU034316

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

613507

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

GLYCOGEN STORAGE DISEASE XV

tui

T047

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http://purl.obolibrary.org/obo/DOID_0050579 Human Disease Ontology 123 LOOM