glycogen storage disease due to phosphorylase kinase deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0018251


Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency. [ Orphanet:370 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:40191005 (MONDO:equivalentTo)
  • Orphanet:370 (MONDO:equivalentTo)
  • ICD10:E74.0 (Orphanet:370)
  • NCIT:C122662 (MONDO:equivalentTo)
  • DOID:0050594 (MONDO:equivalentTo)
  • SCTID:235908005 (MONDO:equivalentTo)
  • MESH:C580130 (MONDO:equivalentTo)
  • UMLS:C0268147 (Orphanet:370)
Subsets

ordo_group_of_disorders

definition

Glycogen storage disease (GSD) due to phosphorylase kinase deficiency is a group of inborn errors of glycogen metabolism that is clinically and genetically heterogeneous. This group comprises GSD due to liver phosphorylase kinase (PhK) deficiency, GSD due to muscle PhK deficiency and GSD due to liver and muscle PhK deficiency.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C122662

http://identifiers.org/mesh/C580130

http://identifiers.org/snomedct/40191005

http://purl.obolibrary.org/obo/DOID_0050594

http://www.orpha.net/ORDO/Orphanet_370

http://linkedlifedata.com/resource/umls/id/C0268147

http://identifiers.org/snomedct/235908005

has exact synonym

phosphorylase kinase deficiency

GSD due to phosphorylase kinase deficiency

glycogen storage disease due to PhK deficiency

glycogen storage disease type 9

GSDIX

glycogen storage disease IX

GSD IX

GSD type 9

glycogenosis type IX

gycogenosis due to PhK deficiency

GSD type IX

glycogen storage disease type IX

glycogenosis type 9

glycogenosis due to phosphorylase kinase deficiency

id

MONDO:0018251