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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:Gaucher's disease type III
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Accession:DOID:0110959 term browser browse the term
Definition:A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in an autosomal recessive mutation of GBA on chromosome 1q22. (DO)
Synonyms:exact_synonym: GD III;   GD3;   Gaucher disease type 3;   Gaucher disease type III;   Gaucher disease, chronic neuronopathic type;   Gaucher disease, juvenile and adult, cerebral;   Gaucher disease, subacute neuronopathic form;   Gaucher disease, subacute neuronopathic type;   subacute neuronopathic Gaucher disease
 primary_id: MESH:C565554
 alt_id: OMIM:231000
 xref: ORDO:77261
For additional species annotation, visit the Alliance of Genome Resources.



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Gaucher's disease type III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type OMIM
ClinVar
PMID:1301953 PMID:1348297 PMID:1704891 PMID:1840477 PMID:1897529 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
Gaucher's disease type IIIC term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome OMIM
ClinVar
PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:1972019 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                Gaucher's disease type III 1
                  Gaucher Disease, Norrbottnian Type 0
                  Gaucher Disease, Type IIIb 0
                  Gaucher's disease type IIIC 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            Metabolic Brain Diseases 845
              Metabolic Brain Diseases, Inborn 745
                Lysosomal Storage Diseases, Nervous System 112
                  sphingolipidosis 85
                    Gaucher's disease 12
                      Gaucher's disease type III 1
                        Gaucher Disease, Norrbottnian Type 0
                        Gaucher Disease, Type IIIb 0
                        Gaucher's disease type IIIC 1
paths to the root