ONTOLOGY REPORT - ANNOTATIONS

Term:Gaucher Disease
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Accession:RDO:0000111 term browser browse the term
Definition:An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
Synonyms:exact_synonym: Acid beta Glucosidase Deficiency;   Acid beta Glucosidase Deficiency Disease;   Acid beta-Glucosidase Deficiencies;   Acute Neuronopathic Gaucher Disease;   Cerebroside Lipidosis Syndrome;   Cerebroside Lipidosis Syndromes;   Chronic Gaucher Disease;   GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL GAUCHER DISEASE, TYPE IIIA;   GAUCHER DISEASE, NORRBOTTNIAN TYPE;   GAUCHER DISEASE, TYPE I;   GAUCHER DISEASE, TYPE II;   GAUCHER DISEASE, TYPE III;   GAUCHER DISEASE, TYPE IIIB;   GBA DEFICIENCY;   GBA Deficiencies;   GD I;   GD II;   GD III;   Gaucher Disease Type 1;   Gaucher Disease Type 2;   Gaucher Disease Type 3;   Gaucher Disease, Acute Neuronopathic Type;   Gaucher Disease, Chronic Neuronopathic Type;   Gaucher Disease, Infantile Cerebral;   Gaucher Disease, Juvenile and Adult, Cerebral;   Gaucher Disease, Non Neuronopathic Form;   Gaucher Disease, Noncerebral Juvenile;   Gaucher Disease, Subacute Neuronopathic Form;   Gaucher Disease, Subacute Neuronopathic Type;   Gaucher's Disease;   Gauchers Disease;   Glucocerebrosidase Deficiencies;   Glucocerebrosidase Deficiency;   Glucocerebrosidase Deficiency Disease;   Glucocerebrosidase Deficiency Diseases;   Glucosylceramide Beta Glucosidase Deficiency Disease;   Infantile Gaucher Disease;   Juvenile Gaucher Disease;   Neuronopathic Gaucher Disease;   Non Neuronopathic Gaucher Disease;   Subacute Neuronopathic Gaucher Disease
 primary_id: MESH:D005776
 alt_id: OMIM:230800;   OMIM:230900;   OMIM:231000;   OMIM:600031

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Gaucher Disease term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Chit1 chitinase 1 (chitotriosidase) GBrowse link ISS 13 47,095,240 47,109,367 RGD:7240710 OMIM
G Gba glucosidase, beta, acid ISS RGD:5508431 RGD
G Gba glucosidase, beta, acid ISS RGD:5508423 RGD
G Gba glucosidase, beta, acid ISS RGD:7240710 OMIM
G Il4 interleukin 4 GBrowse link ISS 10 39,074,582 39,080,134 RGD:5128511 RGD
G Mogs mannosyl-oligosaccharide glucosidase GBrowse link ISS 4 117,327,609 117,331,012 RGD:704404 RGD
Gaucher Disease, Atypical, Due To Saposin C Deficiency term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Psap prosaposin GBrowse link ISS 20 27,595,048 27,621,574 RGD:7240710 OMIM
Gaucher Disease, Perinatal Lethal term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Gba glucosidase, beta, acid ISS RGD:7240710 OMIM
Gaucher-like disease term browser
Symbol Object Name GBrowse Evidence Chr Start Stop Reference Source
G Gba glucosidase, beta, acid ISS RGD:7240710 OMIM
Term paths to the root
Path 1
Term Annotations click to browse term
  Diseases 30477
    Nutritional and Metabolic Diseases 5272
      Metabolic Diseases 4653
        Lipid Metabolism Disorders 448
          Lipidoses 64
            Sphingolipidoses 43
              Gaucher Disease 9
                Acute cerebral Gaucher disease 0
                Gaucher Disease, Atypical, Due To Saposin C Deficiency 1
                Gaucher Disease, Norrbottnian Type 0
                Gaucher Disease, Perinatal Lethal 1
                Gaucher Disease, Type IIIa 0
                Gaucher Disease, Type IIIb 0
                Gaucher Disease, Type Iiic 0
                Gaucher-like disease 1
Path 2
Term Annotations click to browse term
  Diseases 30477
    Nervous System Diseases 5233
      Central Nervous System Diseases 3421
        Brain Diseases 2938
          Brain Diseases, Metabolic 326
            Brain Diseases, Metabolic, Inborn 300
              Lysosomal Storage Diseases, Nervous System 60
                Sphingolipidoses 43
                  Gaucher Disease 9
                    Acute cerebral Gaucher disease 0
                    Gaucher Disease, Atypical, Due To Saposin C Deficiency 1
                    Gaucher Disease, Norrbottnian Type 0
                    Gaucher Disease, Perinatal Lethal 1
                    Gaucher Disease, Type IIIa 0
                    Gaucher Disease, Type IIIb 0
                    Gaucher Disease, Type Iiic 0
                    Gaucher-like disease 1
paths to the root

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