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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 IV
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Accession:DOID:2750 term browser browse the term
Definition:A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. (DO)
Synonyms:exact_synonym: Andersen Disease;   Andersen's Disease;   Andersens Disease;   Brancher Deficiency;   Brancher deficiencies;   GBE1 deficiencies;   GBE1 deficiency;   GSD IV;   GSD due to glycogen branching enzyme deficiency;   GSD4;   Glycogen Branching Enzyme Deficiency;   Glycogen storage disease 4;   amylopectinoses;   amylopectinosis;   brancher deficiency glycogenosis;   branching-transferase deficiency glycogenosis;   deficiency of 1,4-alpha-glucan branching enzyme;   glycogen storage disease due to glycogen branching enzyme deficiency;   glycogen storage disease type 4;   glycogen storage disease type IV;   glycogenoses type IV;   glycogenosis 4;   glycogenosis IV;   glycogenosis type IV
 broad_synonym: GBE1-RELATED DISORDER;   GBE1-RELATED DISORDERS
 primary_id: MESH:D006011
 alt_id: MIM:232500
 xref: GARD:2520;   NCI:C84737;   ORDO:367
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
glycogen storage disease IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa alpha glucosidase treatment ISO ClinVar Annotator: match by term: Glycogen storage disease, type IV ClinVar
RGD		 PMID:2510307 PMID:7668832 PMID:7717400 PMID:7881425 PMID:8558570 More... RGD:25671409 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO
ISS		 DNA:deletion,DNA:point mutations:Y329S,L224P,R515C,F257L,R524X
ClinVar Annotator: match by term: GBE1-related disorder | ClinVar Annotator: match by term: Glycogen storage disease, type IV
OMIM:232500
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8059607 PMID:8247964 PMID:8613547 PMID:9536098 PMID:9851430 More... RGD:1601279 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:30792690 NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Glycogen storage disease, type IV ClinVar NCBI chr 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005 		JBrowse link
Familial Cirrhosis with Deposition of Abnormal Glycogen term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen ClinVar PMID:2510307 PMID:7668832 PMID:7717400 PMID:7881425 PMID:8558570 More... NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836 		JBrowse link
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen ClinVar PMID:8059607 PMID:8247964 PMID:8613547 PMID:9536098 PMID:9851430 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
GSD IV, Classic Hepatic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: GSD IV, CLASSIC HEPATIC ClinVar PMID:8059607 PMID:8247964 PMID:8613547 PMID:9536098 PMID:9851430 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
GSD IV, combined hepatic and myopathic term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: Glycogen storage disease IV, combined hepatic and myopathic ClinVar PMID:10545044 PMID:10762170 PMID:12874416 PMID:15452297 PMID:20301758 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
GSD IV, Neuromuscular Form, Childhood term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CHILDHOOD ClinVar PMID:8613547 PMID:15452297 PMID:20058079 PMID:25741868 PMID:26166723 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
GSD IV, Neuromuscular Form, Congenital term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO ClinVar Annotator: match by term: GSD IV, NEUROMUSCULAR FORM, CONGENITAL ClinVar PMID:8059607 PMID:8613547 PMID:9536098 PMID:15019703 PMID:15452297 More... NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
GSD IV, Neuromuscular Form, Fatal Perinatal term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gbe1 1,4-alpha-glucan branching enzyme 1 ISO DNA:missense mutations, nonsense mutation, splice site mutation:exons, intron: multiple
ClinVar Annotator: match by term: Gsd IV, neuromuscular form, fatal perinatal		 ClinVar
RGD		 PMID:8247964 PMID:10384399 PMID:15452297 PMID:16199547 PMID:20058079 More... RGD:18337290 NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          monogenic disease 10876
            autosomal genetic disease 10360
              autosomal recessive disease 6959
                glycogen storage disease IV 4
                  Familial Cirrhosis with Deposition of Abnormal Glycogen 2
                  GSD IV, Classic Hepatic 1
                  GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy 0
                  GSD IV, Neuromuscular Form, Childhood 1
                  GSD IV, Neuromuscular Form, Congenital 1
                  GSD IV, Neuromuscular Form, Fatal Perinatal 1
                  GSD IV, Nonprogressive Hepatic 0
                  GSD IV, combined hepatic and myopathic 1
Path 2
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          inherited metabolic disorder 6608
            carbohydrate metabolic disorder 3411
              glycogen metabolism disorder 302
                glycogen storage disease 302
                  glycogen storage disease IV 4
                    Familial Cirrhosis with Deposition of Abnormal Glycogen 2
                    GSD IV, Classic Hepatic 1
                    GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy 0
                    GSD IV, Neuromuscular Form, Childhood 1
                    GSD IV, Neuromuscular Form, Congenital 1
                    GSD IV, Neuromuscular Form, Fatal Perinatal 1
                    GSD IV, Nonprogressive Hepatic 0
                    GSD IV, combined hepatic and myopathic 1
paths to the root