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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 IXd
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Accession:DOID:0111040 term browser browse the term
Definition:A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. (DO)
Synonyms:exact_synonym: GSD IXD;   GSD due to muscle phosphorylase kinase deficiency;   GSD type 9D;   GSD type 9E;   GSD type IXd;   GSD type IXe;   GSD9D;   Muscle Phosphorylase Kinase Deficiency;   X-linked muscke glycogenosis;   X-linked muscle glycogenosis;   glycogen storage disease due to muscle phosphorylase kinase deficiency;   glycogen storage disease type 9D;   glycogen storage disease type 9E;   glycogen storage disease type IXd;   glycogen storage disease type IXe;   glycogenosis due to muscle phosphorylase kinase deficiency;   glycogenosis type 9D;   glycogenosis type 9E;   glycogenosis type IXd;   glycogenosis type IXe
 primary_id: MESH:C564485
 alt_id: OMIM:300559
 xref: ORDO:715
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease IXd term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by OMIM:300559
ClinVar Annotator: match by term: GSD IXd
ClinVar Annotator: match by term: Glycogen storage disease IXd
OMIM
ClinVar
PMID:2252364 PMID:7874115 PMID:8145916 PMID:9536098 PMID:9731190 More... NCBI chr  X:67,601,302...67,738,504
Ensembl chr  X:67,601,302...67,738,455
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Pathologic Processes 6699
        Growth Disorders 782
          glycogen storage disease IX 4
            glycogen storage disease IXd 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          inherited metabolic disorder 2619
            carbohydrate metabolic disorder 527
              glycogen metabolism disorder 109
                glycogen storage disease 109
                  glycogen storage disease IX 4
                    glycogen storage disease IXd 1
paths to the root