ONTOLOGY REPORT - ANNOTATIONS


Term:gangliosidosis
go back to main search page
Accession:DOID:2368 term browser browse the term
Definition:A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
Synonyms:exact_synonym: ganglioside storage disease;   ganglioside storage diseases;   ganglioside storage disorder;   ganglioside storage disorders;   gangliosidoses
 primary_id: MESH:D005733
 alt_id: RDO:0005647
 xref: GARD:12510;   ORDO:309144
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
GM1 gangliosidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn3 actinin alpha 3 JBrowse link 1 220,120,532 220,136,460 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:1598983
RGD:8554872
RGD:11554173
RGD:11086251
RGD:12910453
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
GM1 gangliosidosis type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actn3 actinin alpha 3 JBrowse link 1 220,120,532 220,136,460 RGD:8554872
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:8554872
RGD:7240710
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
GM1 gangliosidosis type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:8554872
RGD:7240710
GM1 gangliosidosis type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Glb1 galactosidase, beta 1 JBrowse link 8 122,439,328 122,511,939 RGD:7240710
RGD:8554872
GM2 gangliosidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm2a GM2 ganglioside activator JBrowse link 10 40,438,394 40,450,927 RGD:1598993
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:6480199
G Sncb synuclein, beta JBrowse link 17 10,384,472 10,392,776 RGD:6480199
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm2a GM2 ganglioside activator JBrowse link 10 40,438,394 40,450,927 RGD:7240710
RGD:8554872
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
Sandhoff disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccl3 C-C motif chemokine ligand 3 JBrowse link 10 70,869,516 70,871,066 RGD:7241825
G Gfm2 G elongation factor, mitochondrial 2 JBrowse link 2 27,949,195 27,984,045 RGD:8554872
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:1599422
RGD:8554872
RGD:7240710
Sandhoff Disease, Adult Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:8554872
Sandhoff Disease, Infantile Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:8554872
Sandhoff Disease, Juvenile Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexb hexosaminidase subunit beta JBrowse link 2 27,983,925 28,003,260 RGD:8554872
Tay-Sachs disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm2a GM2 ganglioside activator JBrowse link 10 40,438,394 40,450,927 RGD:8554872
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:7240710
RGD:8554872
RGD:13673908
RGD:11554173
Tay-Sachs Disease, Juvenile term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872
Tay-Sachs Disease, Variant B1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hexa hexosaminidase subunit alpha JBrowse link 8 64,325,435 64,350,775 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Nutritional and Metabolic Diseases 4250
      disease of metabolism 4250
        lipid metabolism disorder 721
          lipid storage disease 343
            sphingolipidosis 54
              gangliosidosis 13
                GM1 gangliosidosis + 6
                GM2 gangliosidosis + 7
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            Metabolic Brain Diseases 441
              Metabolic Brain Diseases, Inborn 385
                Lysosomal Storage Diseases, Nervous System 71
                  sphingolipidosis 54
                    gangliosidosis 13
                      GM1 gangliosidosis + 6
                      GM2 gangliosidosis + 7
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.