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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 I
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Accession:DOID:0110957 term browser browse the term
Definition:A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: GBA deficiency;   GD I;   GD1;   Gaucher disease type 1;   Gaucher disease, non neuronopathic form;   Gaucher disease, noncerebral juvenile;   Gaucher disease, type I;   Gaucher's disease, type 1;   juvenile Gaucher disease;   non neuronopathic Gaucher disease
 primary_id: OMIM:230800
 xref: ORDO:77259


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Gaucher's disease type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISS
ISO		 OMIM:230800
ClinVar Annotator: match by term: Gaucher disease type I		 MouseDO
OMIM
ClinVar		 PMID:1301953 PMID:1348297 PMID:1415223 PMID:1487244 PMID:1558964 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile ClinVar PMID:22493294 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: GD I ClinVar PMID:25741868 NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8237
      disease of metabolism 8237
        lipid metabolism disorder 1735
          lipid storage disease 830
            sphingolipidosis 149
              Gaucher's disease 13
                Gaucher's disease type I 3
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 I 3
paths to the root