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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 IXC
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Accession:DOID:0111043 term browser browse the term
Definition:A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. (DO)
Synonyms:exact_synonym: GSD IXC;   GSD type 9C;   GSD type IXc;   GSD9C;   glycogen storage disease type 9C;   glycogen storage disease type IXc;   glycogenosis type 9C;   glycogenosis type IXc
 primary_id: MESH:C567809
 alt_id: MIM:613027


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glycogen storage disease IXC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130058864 ATAC-STARR-seq lymphoblastoid silent region 7391 IAGP ClinVar Annotator: match by term: Glycogen storage disease IXc ClinVar NCBI chr16:30,748,172...30,748,471 JBrowse link
G PHKG2 phosphorylase kinase catalytic subunit gamma 2 IAGP
EXP		 ClinVar Annotator: match by term: Glycogen storage disease IXc
ClinVar Annotator: match by term: GSD IXc | ClinVar Annotator: match by term: Glycogen storage disease IXc
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glycogen storage disease type IXc		 ClinVar
OMIM
CTD		 PMID:2558039 PMID:6962066 PMID:7562285 PMID:8896567 PMID:9384616 More... NCBI chr16:30,748,425...30,761,176
Ensembl chr16:30,748,293...30,761,176 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35758
    Pathological Conditions, Signs and Symptoms 21555
      Pathologic Processes 13202
        Growth Disorders 1318
          glycogen storage disease IX 35
            glycogen storage disease IXC 2
Path 2
Term Annotations click to browse term
  disease 35758
    Developmental Disease 28592
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24619
        genetic disease 23873
          inherited metabolic disorder 7935
            carbohydrate metabolic disorder 3674
              glycogen metabolism disorder 306
                glycogen storage disease 306
                  glycogen storage disease IX 35
                    glycogen storage disease IXC 2
paths to the root