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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 Ia
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Accession:DOID:2749 term browser browse the term
Definition:A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21. (DO)
Synonyms:exact_synonym: GLUCOSE-6-PHOSPHATASE DEFICIENCY;   GSD IA;   GSD1A;   glycogen storage disease type 1A;   glycogen storage disease type IA;   hepatorenal form of glycogen storage disease;   hepatorenal glycogenosis
 primary_id: MESH:C538655
 alt_id: DOID:9007637;   OMIA:000418;   OMIM:232200
 xref: GARD:7864;   NCI:C162398;   ORDO:79258
For additional species annotation, visit the Alliance of Genome Resources.


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glycogen storage disease Ia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc1 glucose-6-phosphatase catalytic subunit 1 treatment ISO
ISS		 ClinVar Annotator: match by term: GSD Ia | ClinVar Annotator: match by term: Glycogen storage disease type 1A | ClinVar Annotator: match by term: Hepatorenal glycogenosis
OMIM:232200
CTD Direct Evidence: marker/mechanism
DNA:SNP:exon:727G>T (human)
human gene in a mouse model		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2172641 PMID:7525963 PMID:7573034 PMID:7623438 PMID:7655466 More... RGD:14695534, RGD:14695549, RGD:14695538 NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804 		JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Hepatorenal glycogenosis ClinVar PMID:18425781 PMID:22252923 PMID:25741868 PMID:27629047 PMID:28492532 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Mmab metabolism of cobalamin associated B ISO ClinVar Annotator: match by term: Hepatorenal form of glycogen storage disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:42,159,109...42,172,518
Ensembl chr12:42,159,089...42,172,490 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISS
ISO		 OMIM:232200 | OMIM:232220 | OMIM:232240
ClinVar Annotator: match by term: Hepatorenal glycogenosis		 MouseDO
ClinVar		 PMID:20578944 PMID:25741868 PMID:28492532 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                glycogen storage disease Ia 4
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          inherited metabolic disorder 6257
            carbohydrate metabolic disorder 3309
              glycogen metabolism disorder 265
                glycogen storage disease 265
                  glycogen storage disease I 36
                    glycogen storage disease Ia 4
paths to the root