Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene. [ MONDO:design_pattern ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0111042 (MONDO:equivalentTo)
  • ICD10:E74.0 (MONDO:subClassOf)
  • MESH:C564421 (MONDO:equivalentTo)
  • MESH:D006015 (MONDO:obsoleteEquivalent)
  • UMLS:C0017927 (MONDO:equivalentTo)
  • EFO:1000952 (MONDO:equivalentTo)
  • OMIM:306000 (https://www.ncbi.nlm.nih.gov/books/NBK55061/)
  • SCTID:41527003 (MONDO:equivalentTo)
  • MedDRA:10053242 (EFO:1000952)
  • GARD:0006538 (MONDO:obsoleteEquivalent)
  • DOID:2751 (MONDO:obsoleteEquivalent)
Subsets

gard_rare

abbreviation
GSD9A1 [ https://omim.org/entry/306000 MONDO:Lexical ]

abbreviation
PYKL [ GARD:0006538 ]

abbreviation
GSD9A [ DOID:0111042 ]

closeMatch

http://identifiers.org/snomedct/297255007

http://linkedlifedata.com/resource/umls/id/C1844412

http://linkedlifedata.com/resource/umls/id/C1418533

http://identifiers.org/meddra/10053242

http://linkedlifedata.com/resource/umls/id/C2748941

conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene.

exactMatch

http://linkedlifedata.com/resource/umls/id/C0017927

http://purl.obolibrary.org/obo/DOID_2751

http://purl.obolibrary.org/obo/DOID_0111042

http://identifiers.org/mesh/D006015

http://identifiers.org/omim/306000

http://identifiers.org/snomedct/41527003

http://identifiers.org/mesh/C564421

has exact synonym

glycogen storage disease type VIII

glycogen storage disease type IXa

GSD type IXa

glycogenosis type IXa

PHKA2-related glycogen storage disease type IX

hepatic glycogen phosphorylase kinase deficiency

GSD9A

glycogenosis type 9A

GSD type 9A

glycogen storage disease type 9A

glycogenosis type VIII

PHKA2 glycogen storage disease

glycogen storage disease caused by mutation in PHKA2

glycogen storage disease VIII

has related synonym

glycogen storage disease IXa2

GSD9A1

glycogen storage disease IXa1

liver glycogenosis, X-linked, type 1

liver glycogenosis, X-linked, type 2

glycogen storage disease VIII, formerly

GSD VIII, formerly

hepatic phosphorylase kinase deficiency

GSD IXa2

PYKL

glycogen storage disease 8

phosphorylase kinase deficiency of liver

GSD VIII

glycogenosis type 8

id

MONDO:0010598

seeAlso

https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8