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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:Sandhoff disease
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Accession:DOID:3323 term browser browse the term
Definition:A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13. (DO)
Synonyms:exact_synonym: GM2 Gangliosidosis, Type 2;   Gangliosidosis, GM2, type II (Sandhoff or variant 0);   Hexosaminidase A and B Deficiency Disease;   Hexosaminidases A And B Deficiency;   Juvenile Sandhoff Disease;   Sandhoff Disease, Chronic;   Sandhoff Jatzkewitz Pilz Disease;   Sandhoff Jatzkewitz disease;   Sandhoff's Disease;   Sandhoffs Disease;   Total Hexosaminidase Deficiencies;   adult Sandhoff disease;   beta Hexosaminidase beta Subunit Deficiency;   beta-hexosaminidase-beta-subunit deficiencies;   gangliosidosis G(M2), type II;   total hexosaminidase deficiency;   type II GM2-gangliosidoses;   type II GM2-gangliosidosis
 related_synonym: HEXOSAMINIDASE B (PARIS)
 primary_id: MESH:D012497
 alt_id: OMIA:001462;   OMIM:268800
 xref: GARD:7604;   ICD10CM:E75.01;   NCI:C85052;   ORDO:796
For additional species annotation, visit the Alliance of Genome Resources.


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Sandhoff disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankdd1b ankyrin repeat and death domain containing 1B ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:27,750,301...27,814,291
Ensembl chr 2:27,750,987...27,813,734 		JBrowse link
G Ankrd31 ankyrin repeat domain 31 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:28,079,187...28,241,722
Ensembl chr 2:28,092,882...28,241,719 		JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:15155903 RGD:7241825 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938 		JBrowse link
G Cert1 ceramide transporter 1 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:27,882,546...27,987,090
Ensembl chr 2:27,882,555...27,987,074 		JBrowse link
G Fam169a family with sequence similarity 169, member A ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:28,384,162...28,441,361
Ensembl chr 2:28,383,784...28,438,910 		JBrowse link
G Gcnt4 glucosaminyl (N-acetyl) transferase 4 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:28,253,325...28,283,082
Ensembl chr 2:28,252,860...28,283,082 		JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:7550345 PMID:18758829 PMID:28492532 NCBI chr 2:28,449,452...28,488,200
Ensembl chr 2:28,449,517...28,488,197 		JBrowse link
G Hexb hexosaminidase subunit beta ISO
ISS		 ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease
ClinVar Annotator: match by term: GM2 gangliosidosis, type 2 | ClinVar Annotator: match by term: Sandhoff disease | ClinVar Annotator: match by term: Sandhoff disease, chronic | ClinVar Annotator: match by term: Sandhoff-Jatzkewitz-Pilz disease
OMIM:268800
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:10724 PMID:571983 PMID:868875 PMID:1386607 PMID:1487253 More... RGD:1599422 NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223 		JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703 		JBrowse link
G Nsa2 NSA2 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:28,443,142...28,449,393
Ensembl chr 2:28,441,269...28,449,388 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805 		JBrowse link
G Polk DNA polymerase kappa ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar PMID:28492532 NCBI chr 2:27,822,228...27,882,331
Ensembl chr 2:27,822,679...27,882,313 		JBrowse link
Sandhoff Disease, Adult Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, adult type ClinVar PMID:571983 PMID:1386607 PMID:1531140 PMID:2147027 PMID:2948136 More... NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223 		JBrowse link
Sandhoff Disease, Infantile Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enc1 ectodermal-neural cortex 1 ISO ClinVar Annotator: match by term: Sandhoff disease, infantile type ClinVar PMID:7633435 NCBI chr 2:28,550,670...28,562,591
Ensembl chr 2:28,550,464...28,562,713 		JBrowse link
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, infantile type ClinVar PMID:7550345 PMID:7633435 PMID:8045559 PMID:8162015 PMID:9888387 More... NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223 		JBrowse link
Sandhoff Disease, Juvenile Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, juvenile type ClinVar PMID:10724 PMID:1386607 PMID:1531140 PMID:1720305 PMID:2147027 More... NCBI chr 2:28,483,997...28,504,165
Ensembl chr 2:28,484,012...28,504,223 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        lipid metabolism disorder 1739
          lipid storage disease 830
            sphingolipidosis 149
              gangliosidosis 43
                GM2 gangliosidosis 39
                  Sandhoff disease 13
                    Sandhoff Disease, Adult Type 1
                    Sandhoff Disease, Infantile Type 2
                    Sandhoff Disease, Juvenile Type 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            Metabolic Brain Diseases 1490
              Metabolic Brain Diseases, Inborn 1358
                Lysosomal Storage Diseases, Nervous System 177
                  sphingolipidosis 149
                    gangliosidosis 43
                      GM2 gangliosidosis 39
                        Sandhoff disease 13
                          Sandhoff Disease, Adult Type 1
                          Sandhoff Disease, Infantile Type 2
                          Sandhoff Disease, Juvenile Type 1
paths to the root