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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 IXB
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Accession:DOID:0111041 term browser browse the term
Definition:A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. (DO)
Synonyms:exact_synonym: GSD IXB;   GSD due to liver and muscle phosphorylase kinase deficiency;   GSD type 9B;   GSD type IXb;   GSD9B;   glycogen storage disease type 9B;   glycogen storage disease type IXb;   glycogenosis due to liver and muscle phosphorylase kinase deficiency;   glycogenosis of liver and muscle, autosomal recessive;   glycogenosis type 9B;   glycogenosis type IXb;   phosphorylase kinase deficiency of liver and muscle, autosomal recessive
 broad_synonym: PHKB-related condition
 xref: MESH:C563008;   MIM:261750;   MONDO:0009868;   ORDO:79240


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glycogen storage disease IXB term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc12 ATP binding cassette subfamily C member 12 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:20,549,298...20,621,991
Ensembl chr19:36,722,575...36,793,993 		JBrowse link
G C19h16orf87 similar to human chromosome 16 open reading frame 87 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,626,390...21,653,869
Ensembl chr19:37,799,799...37,827,452 		JBrowse link
G Dnaja2 DnaJ heat shock protein family (Hsp40) member A2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,671,019...37,689,163
Ensembl chr19:37,670,945...37,690,120 		JBrowse link
G Gpt2 glutamic--pyruvic transaminase 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,700,023...37,734,551
Ensembl chr19:37,691,901...37,733,917 		JBrowse link
G Itfg1 integrin alpha FG-GAP repeat containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,210,697...21,331,285
Ensembl chr19:37,383,922...37,504,517 		JBrowse link
G Mylk3 myosin light chain kinase 3 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,685,085...21,743,587
Ensembl chr19:37,865,141...37,915,827 		JBrowse link
G Neto2 neuropilin and tolloid like 2 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,517,518...37,588,961
Ensembl chr19:37,517,587...37,591,413 		JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:37,931,090...37,938,856 		JBrowse link
G Phkb phosphorylase kinase regulatory subunit beta ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:261750
ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHKB-related condition | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE 		OMIM
CTD
MouseDO
ClinVar		 PMID:9215682 PMID:9326319 PMID:9402963 PMID:9536098 PMID:12825073 More... NCBI chr19:21,013,719...21,210,671
Ensembl chr19:37,186,042...37,383,877 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Glycogen storage disease IXb ClinVar PMID:28492532 NCBI chr19:37,938,989...37,974,887
Ensembl chr19:37,938,720...37,974,886 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      endocrine system disease 7008
        liver disease 2964
          glycogen storage disease IX 29
            glycogen storage disease IXB 10
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            carbohydrate metabolic disorder 3440
              glycogen metabolism disorder 304
                glycogen storage disease 304
                  glycogen storage disease IX 29
                    glycogen storage disease IXB 10
paths to the root