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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 II
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Accession:DOID:0110958 term browser browse the term
Definition:A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: GD II;   GD2;   Gaucher disease type 2;   Gaucher disease, acute neuronopathic type;   Gaucher disease, type II;   acute cerebral Gaucher disease;   acute neuronopathic Gaucher disease;   infantile cerebral Gaucher disease
 primary_id: MESH:C531689
 alt_id: OMIM:230900
 xref: ORDO:77260


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Gaucher's disease type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 IAGP
ISO		 OMIM:230900
ClinVar Annotator: match by term: Acute cerebral Gaucher disease | ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type		 MouseDO
OMIM
ClinVar		 PMID:1301953 PMID:1348297 PMID:1415223 PMID:1558964 PMID:1589760 More... NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18300
    Nutritional and Metabolic Diseases 7392
      disease of metabolism 7392
        lipid metabolism disorder 1602
          lipid storage disease 819
            sphingolipidosis 148
              Gaucher's disease 13
                Gaucher's disease type II 1
Path 2
Term Annotations click to browse term
  disease 18300
    disease of anatomical entity 15630
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            Metabolic Brain Diseases 1515
              Metabolic Brain Diseases, Inborn 1382
                Lysosomal Storage Diseases, Nervous System 177
                  sphingolipidosis 148
                    Gaucher's disease 13
                      Gaucher's disease type II 1
paths to the root