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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 homozygous or compound heterozygous mutation in the GBA1 gene 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


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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 Gba1 glucosylceramidase beta 1 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 Gba1 glucosylceramidase beta 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome		 CTD
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 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                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 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            Metabolic Brain Diseases 1487
              Metabolic Brain Diseases, Inborn 1354
                Lysosomal Storage Diseases, Nervous System 177
                  sphingolipidosis 149
                    Gaucher's disease 13
                      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