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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:glycogen storage disease IXa
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Accession:DOID:0111042 term browser browse the term
Definition:A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: GSD IXA2;   GSD type 9A;   GSD type IXa;   GSD9A;   GSD9A1;   GSD9A2;   XLG1;   XLG2;   glycogen storage disease IXA2;   glycogen storage disease IXa1;   glycogen storage disease type 9A;   glycogen storage disease type IXA1;   glycogen storage disease type IXA2;   glycogen storage disease type IXa;   glycogenosis type 9A;   glycogenosis type IXa;   liver glycogenosis, X-linked, type I;   liver glycogenosis, X-linked, type II
 related_synonym: GSD VIII (formerly);   GSD8 (formerly);   glycogen storage disease VIII (formerly)
 primary_id: OMIM:306000
 alt_id: MESH:C564421;   MESH:C567579
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease IXa term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka2 phosphorylase kinase regulatory subunit alpha 2 ISO
IAGP
ClinVar Annotator: match by OMIM:306000
ClinVar Annotator: match by term: Glycogen storage disease IXa2
ClinVar Annotator: match by term: GSD VIII
ClinVar Annotator: match by term: Glycogen storage disease type IXa1
DNA:mutations:multiple
DNA:missense mutations:multiple
OMIM
ClinVar
PMID:2303074 PMID:5306139 PMID:7711737 PMID:7847371 PMID:7959740 PMID:8733133 PMID:8733134 PMID:9536098 PMID:9600238 PMID:9835437 PMID:9870210 PMID:10330341 PMID:11286390 PMID:12862311 PMID:16199547 PMID:17576681 PMID:17689125 PMID:21634085 PMID:21646031 PMID:21857251 PMID:21911307 PMID:22899091 PMID:23578772 PMID:24055370 PMID:25070466 PMID:25266922 PMID:25741868 PMID:25741869 PMID:26157701 PMID:26944031 PMID:27103379 PMID:28166811 PMID:28468868 PMID:28492532 PMID:28600779 PMID:28627441 PMID:30659246 PMID:31508908, PMID:28283841, PMID:8733134, PMID:28627441 RGD:26884353, RGD:26884354, RGD:26884355 NCBI chr  X:35,970,650...36,926,616 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    Pathological Conditions, Signs and Symptoms 10222
      Pathologic Processes 6694
        Growth Disorders 786
          glycogen storage disease IX 4
            glycogen storage disease IXa 1
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          inherited metabolic disorder 2615
            carbohydrate metabolic disorder 525
              glycogen metabolism disorder 108
                glycogen storage disease 108
                  glycogen storage disease IX 4
                    glycogen storage disease IXa 1
paths to the root