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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
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Accession:DOID:1926 term browser browse the term
Definition:A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. (DO)
Synonyms:exact_synonym: Chronic Gaucher Disease;   GBA Deficiency;   GBA deficiencies;   Gaucher Splenomegaly;   Gaucher Syndrome;   Gaucher disease;   Gauchers Disease;   Glucocerebrosidase Deficiencies;   Glucocerebrosidase Deficiency;   Glucocerebrosidase Deficiency Disease;   Glucocerebrosidase Deficiency Diseases;   Glucocerebrosidoses;   Glucocerebrosidosis;   Glucosyl Cerebroside Lipidoses;   Glucosyl Cerebroside Lipidosis;   Glucosylceramidase Deficiency;   Glucosylceramide Beta-Glucosidase Deficiency;   Glucosylceramide Beta-Glucosidase Deficiency Disease;   Glucosylceramide Lipidoses;   Glucosylceramide Lipidosis;   Infantile Gaucher Disease;   Kerasin Histiocytoses;   Kerasin Histiocytosis;   Kerasin Lipoidoses;   acid beta-glucosidase deficiency;   acid beta-glucosidase deficiency disease;   cerebroside lipidosis syndrome;   cerebroside lipidosis syndromes;   glocucerebrosidase deficiency;   kerasin lipoidosis;   kerasin thesaurismoses;   kerasin thesaurismosis;   lipoid histiocytoses (kerasin type);   lipoid histiocytosis;   lipoid histiocytosis (kerasin type);   neuronopathic Gaucher disease
 narrow_synonym: GAUCHER DISEASE, NORRBOTTNIAN TYPE;   GAUCHER DISEASE, TYPE IIIB
 primary_id: MESH:D005776
 xref: EFO:0004721;   GARD:8233;   ICD10CM:E75.22;   MONDO:0018150;   NCI:C61268;   ORDO:355
For additional species annotation, visit the Alliance of Genome Resources.


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Gaucher's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme ISO CTD Direct Evidence: marker/mechanism CTD PMID:12359135 NCBI chr10:91,410,129...91,430,246
Ensembl chr10:91,409,819...91,430,942 		JBrowse link
G Chit1 chitinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17464953 NCBI chr13:48,117,886...48,165,645
Ensembl chr13:48,145,893...48,165,639 		JBrowse link
G Elp1 elongator acetyltransferase complex subunit 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:28492532 NCBI chr 5:76,248,545...76,300,985
Ensembl chr 5:76,248,550...76,300,985 		JBrowse link
G Gba1 glucosylceramidase beta 1 ISO
ISS 		DNA:missense mutations, deletion:cds:multiple (human)
DNA:mutations:cds, intron:multiple (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis 		CTD
MouseDO
ClinVar
RGD		 PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 More... RGD:5508423, RGD:5508431, RGD:12791017, RGD:12791018 NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
G Il4 interleukin 4 ISO protein:increased expression:lung RGD PMID:21223590 RGD:5128511 NCBI chr10:38,272,003...38,277,549
Ensembl chr10:38,272,003...38,277,549 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Acid beta-glucosidase deficiency ClinVar PMID:22493294 NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:12,316,198...12,333,844 		JBrowse link
G Pklr pyruvate kinase L/R ISO DNA:repeats:intron:IVS11+?(ATT)5 (human) RGD PMID:9677056 RGD:11535995 NCBI chr 2:176,840,779...176,849,637
Ensembl chr 2:176,840,764...176,849,644 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Kerasin thesaurismosis ClinVar PMID:11133365 PMID:25614874 PMID:28492532 PMID:36833258 NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:91,911,999...91,937,235 		JBrowse link
G Smpd1 sphingomyelin phosphodiesterase 1 ISO ClinVar Annotator: match by term: Gaucher disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:169,304,772...169,308,615
Ensembl chr 1:169,304,708...169,308,614 		JBrowse link
G Snca synuclein alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19576930 NCBI chr 4:91,026,474...91,127,444
Ensembl chr 4:91,026,474...91,126,315 		JBrowse link
G Tnf tumor necrosis factor severity ISO DNA:SNP:promoter:-308G>A (human) RGD PMID:15919211 RGD:12904037 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: GBA DEFICIENCY ClinVar PMID:25741868 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		JBrowse link
atypical Gaucher's disease due to saposin C deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Psap prosaposin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atypical Gaucher disease due to saposin C deficiency 		CTD
OMIM
ClinVar		 PMID:1350885 PMID:1371116 PMID:2302219 PMID:2320574 PMID:2615292 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		JBrowse link
Gaucher's disease perinatal lethal term browser
Symbol Object Name Qualifiers 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 collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal 		CTD
ClinVar
OMIM		 PMID:1333717 PMID:1348297 PMID:1704891 PMID:1864608 PMID:1897529 More... NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
Gaucher's disease type I term browser
Symbol Object Name Qualifiers 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 | ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile 		MouseDO
ClinVar
OMIM		 PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 More... NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile ClinVar PMID:22493294 NCBI chr 6:12,316,190...12,333,505
Ensembl chr 6:12,316,198...12,333,844 		JBrowse link
G Thbs3 thrombospondin 3 ISO ClinVar Annotator: match by term: Gaucher disease type I ClinVar PMID:25741868 NCBI chr 2:176,919,549...176,931,357
Ensembl chr 2:176,919,230...176,931,357 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: GD I ClinVar PMID:25741868 NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		JBrowse link
Gaucher's disease type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISS
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
ClinVar
OMIM		 PMID:1301953 PMID:1333717 PMID:1348297 PMID:1415223 PMID:1487244 More... NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Acute cerebral Gaucher disease ClinVar PMID:11133365 PMID:25614874 PMID:28492532 PMID:36833258 NCBI chr 1:91,912,669...91,934,754
Ensembl chr 1:91,911,999...91,937,235 		JBrowse link
Gaucher's disease type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Gaucher Disease, Type 3 | ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type OMIM
ClinVar		 PMID:1301953 PMID:1333717 PMID:1348297 PMID:1704891 PMID:1840477 More... NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
Gaucher's disease type IIIC term browser
Symbol Object Name Qualifiers 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
ClinVar
OMIM		 PMID:1333717 PMID:1348297 PMID:1704891 PMID:1864608 PMID:1897529 More... NCBI chr 2:176,902,141...176,916,015
Ensembl chr 2:176,907,154...176,916,985 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        lipid metabolism disorder 1908
          lipid storage disease 858
            sphingolipidosis 148
              Gaucher's disease 15
                Gaucher's disease perinatal lethal 1
                Gaucher's disease type I 4
                Gaucher's disease type II 2
                Gaucher's disease type III + 1
                Gaucher-like Disease 0
                atypical Gaucher's disease due to saposin C deficiency 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            Metabolic Brain Diseases 1519
              Metabolic Brain Diseases, Inborn 1388
                Lysosomal Storage Diseases, Nervous System 179
                  sphingolipidosis 148
                    Gaucher's disease 15
                      Gaucher's disease perinatal lethal 1
                      Gaucher's disease type I 4
                      Gaucher's disease type II 2
                      Gaucher's disease type III + 1
                      Gaucher-like Disease 0
                      atypical Gaucher's disease due to saposin C deficiency 2
paths to the root