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 |
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
notation |
613507 |
OMIM Entry Type |
3 |
OMIM MimType Value |
pound |
prefLabel |
GLYCOGEN STORAGE DISEASE XV |
tui |
T047 |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://purl.obolibrary.org/obo/DOID_0050579 | Human Disease Ontology 123 | LOOM |