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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:gangliosidosis
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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;   ICD10CM:E75.10;   ORDO:309144
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
GM1 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Beta-galactosidase-1 deficiency ClinVar PMID:25326637, PMID:28492532 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Glb1 galactosidase, beta 1 treatment ISO ClinVar Annotator: match by term: GM1 gangliosidosis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GM1 gangliosidosis type 2
DNA:mutations:multiple:
ClinVar Annotator: match by OMIM:230500
ClinVar
CTD
PMID:1487238, PMID:1907800, PMID:1909089, PMID:1928092, PMID:7586649, PMID:8068159, PMID:8112731, PMID:8213816, PMID:8500799, PMID:8652017, PMID:9203065, PMID:10338095, PMID:10737981, PMID:10839995, PMID:10841810, PMID:11504597, PMID:11511921, PMID:12644936, PMID:15365997, PMID:15714521, PMID:15943552, PMID:15986423, PMID:16314480, PMID:16538002, PMID:16617000, PMID:16626397, PMID:16674934, PMID:16941474, PMID:17221873, PMID:17309651, PMID:17664528, PMID:18524657, PMID:19472408, PMID:20175788, PMID:21214877, PMID:21497194, PMID:21520340, PMID:21637542, PMID:22128166, PMID:22675082, PMID:23151865, PMID:23337983, PMID:23430499, PMID:24033266, PMID:24156116, PMID:25443580, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26108645, PMID:26169295, PMID:26646981, PMID:26990548, PMID:28492532, PMID:28554332, PMID:28716012, PMID:28976722, PMID:29352662, PMID:29439846, PMID:30267299, PMID:30311386, PMID:30548430, PMID:30555092, PMID:30809705, PMID:10737981, PMID:25964428, PMID:17309651 RGD:1598983, RGD:11086251, RGD:12910453 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: GM1 gangliosidosis
ClinVar Annotator: match by term: GLB1 DEFICIENCY
ClinVar PMID:16941474, PMID:25741868 NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM1 gangliosidosis type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 ClinVar PMID:25326637, PMID:28492532 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT, UMLS MESH term: Gm1 Gangliosidosis, Type I, with Cardiac Involvement
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement
ClinVar Annotator: match by term: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1
ClinVar Annotator: match by term: Gm1-gangliosidosis, type I, with cardiac involvement
ClinVar
OMIM
PMID:1487238, PMID:1606711, PMID:1907800, PMID:1909089, PMID:1928092, PMID:7586649, PMID:8068159, PMID:8112731, PMID:8198123, PMID:8199591, PMID:8213816, PMID:8500799, PMID:8652017, PMID:8922281, PMID:9203065, PMID:10338095, PMID:10737981, PMID:10841810, PMID:11511921, PMID:12644936, PMID:15365997, PMID:15714521, PMID:15943552, PMID:15986423, PMID:16617000, PMID:16626397, PMID:16941474, PMID:17221873, PMID:17309651, PMID:17664528, PMID:18524657, PMID:19472408, PMID:20175788, PMID:21497194, PMID:21520340, PMID:22128166, PMID:22371915, PMID:23337983, PMID:23430499, PMID:23430803, PMID:24156116, PMID:24767253, PMID:25326635, PMID:25443580, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26169295, PMID:26646981, PMID:28332257, PMID:28492532, PMID:28554332, PMID:28716012, PMID:28976722, PMID:29160035, PMID:29439846, PMID:30267299, PMID:30311386, PMID:30548430, PMID:30809705 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1 ClinVar PMID:8198123, PMID:8199591, PMID:21497194, PMID:25741868, PMID:28492532, PMID:29160035 NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM1 gangliosidosis type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: GM1 gangliosidosis type 2
ClinVar Annotator: match by term: Gangliosidosis, generalized GM1, juvenile type
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2
ClinVar
OMIM
PMID:1353343, PMID:1606711, PMID:1907800, PMID:1909089, PMID:6791574, PMID:7586649, PMID:8068159, PMID:8112731, PMID:8198123, PMID:8213816, PMID:8652017, PMID:8922281, PMID:9203065, PMID:10338095, PMID:10737981, PMID:10744681, PMID:10839995, PMID:10841810, PMID:11504597, PMID:11511921, PMID:12393180, PMID:12644936, PMID:15365997, PMID:15714521, PMID:15986423, PMID:16314480, PMID:16538002, PMID:16617000, PMID:16626397, PMID:16674934, PMID:16941474, PMID:17221873, PMID:17309651, PMID:17661814, PMID:17664528, PMID:18524657, PMID:18571950, PMID:19472408, PMID:19644515, PMID:20175788, PMID:20920281, PMID:21214877, PMID:21497194, PMID:21520340, PMID:22128166, PMID:22675082, PMID:23046582, PMID:23151865, PMID:23337983, PMID:23430499, PMID:23430803, PMID:23831247, PMID:24033266, PMID:24156116, PMID:24767253, PMID:24777551, PMID:25326635, PMID:25326637, PMID:25443580, PMID:25525159, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26108645, PMID:26169295, PMID:26646981, PMID:26766614, PMID:26990548, PMID:27679996, PMID:27750150, PMID:28332257, PMID:28492532, PMID:28554332, PMID:28716012, PMID:28976722, PMID:29352662, PMID:29439846, PMID:29451896, PMID:30267299, PMID:30311386, PMID:30548430, PMID:30675867 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
G Tmppe transmembrane protein with metallophosphoesterase domain ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 2 ClinVar NCBI chr 8:122,439,679...122,447,208 JBrowse link
GM1 gangliosidosis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glb1 galactosidase, beta 1 ISO ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 3
ClinVar Annotator: match by term: GM1 gangliosidosis type 3
ClinVar Annotator: match by term: Gangliosidosis GM1 type 3
OMIM
ClinVar
PMID:1353343, PMID:1907800, PMID:1909089, PMID:6791574, PMID:8068159, PMID:8112731, PMID:8198123, PMID:8213816, PMID:8652017, PMID:9203065, PMID:10338095, PMID:10737981, PMID:11511921, PMID:12644936, PMID:15714521, PMID:16617000, PMID:16626397, PMID:16941474, PMID:17309651, PMID:17664528, PMID:19472408, PMID:19644515, PMID:20175788, PMID:21520340, PMID:22128166, PMID:23337983, PMID:23430499, PMID:25326637, PMID:25443580, PMID:25557439, PMID:25600812, PMID:25741868, PMID:25936995, PMID:26646981, PMID:26766614, PMID:28492532, PMID:28554332, PMID:28716012, PMID:29439846, PMID:30311386 NCBI chr 8:122,439,328...122,511,939
Ensembl chr 8:122,439,328...122,511,939
JBrowse link
GM2 gangliosidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO Tay-Sachs Disease, AB Variant RGD PMID:10364519 RGD:1598993 NCBI chr10:40,438,394...40,450,927
Ensembl chr10:40,438,356...40,450,930
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, late onset ClinVar PMID:1483696, PMID:1833974, PMID:7717398, PMID:7827134, PMID:8490625, PMID:22789865, PMID:28492532 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
G Snca synuclein alpha ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285
JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:brain RGD PMID:12657883 RGD:6480199 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843
JBrowse link
GM2 Gangliosidosis, AB variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB
ClinVar Annotator: match by OMIM:272750
OMIM
ClinVar
PMID:174379, PMID:1570834, PMID:1915858, PMID:8244332, PMID:8900233, PMID:10364519, PMID:25558065, PMID:25741868, PMID:26203402, PMID:28492532 NCBI chr10:40,438,394...40,450,927
Ensembl chr10:40,438,356...40,450,930
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease, variant AB ClinVar PMID:1301938, PMID:1307230, PMID:1830584, PMID:2294750, PMID:2824459, PMID:2848800, PMID:3754980, PMID:8230592, PMID:8352284, PMID:8488832, PMID:8490625, PMID:9073025, PMID:10571007, PMID:11463833, PMID:12108829, PMID:14727180, PMID:15714079, PMID:16088929, PMID:16199656, PMID:16352452, PMID:17412732, PMID:18358410, PMID:19330222, PMID:19858779, PMID:20301397, PMID:20672374, PMID:21228398, PMID:22025593, PMID:22441121, PMID:22723944, PMID:22789865, PMID:22975760, PMID:23852624, PMID:24033266, PMID:24374108, PMID:24518553, PMID:24940364, PMID:25287655, PMID:25557439, PMID:25741868, PMID:27033294, PMID:27896118, PMID:27959697, PMID:28492532, PMID:28503624 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
Gm2-Gangliosidosis, Adult Chronic Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, adult-onset ClinVar PMID:1532289, PMID:2145759, PMID:2220809, PMID:2278539, PMID:2522660, PMID:2522679, PMID:8328462, PMID:8343225, PMID:8490625, PMID:10852376, PMID:14566483, PMID:15714079, PMID:16088929, PMID:17015493, PMID:17237499, PMID:18490185, PMID:19815695, PMID:20363167, PMID:22006919, PMID:22789865, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
Gm2-Gangliosidosis, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Gm2-gangliosidosis, b1 variant ClinVar PMID:1532289 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
Sandhoff disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl3 C-C motif chemokine ligand 3 ISO RGD PMID:15155903 RGD:7241825 NCBI chr10:70,869,516...70,871,066
Ensembl chr10:70,869,513...70,871,066
JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Sandhoff disease ClinVar NCBI chr 2:27,949,195...27,984,045
Ensembl chr 2:27,949,208...27,984,256
JBrowse link
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease
ClinVar Annotator: match by term: Sandhoff disease, chronic
ClinVar Annotator: match by term: Hexosaminidase B (paris)
ClinVar Annotator: match by OMIM:268800
ClinVar
OMIM
PMID:571983, PMID:868875, PMID:1386607, PMID:1487253, PMID:1531140, PMID:1532910, PMID:1720305, PMID:1723749, PMID:1975561, PMID:2139865, PMID:2147027, PMID:2147031, PMID:2170400, PMID:2522450, PMID:2921040, PMID:2948136, PMID:2973515, PMID:3014997, PMID:3156493, PMID:7550345, PMID:7557963, PMID:7633435, PMID:8076944, PMID:8106452, PMID:8162015, PMID:8357844, PMID:8593535, PMID:8950198, PMID:9401004, PMID:9475608, PMID:9562328, PMID:9694901, PMID:12027830, PMID:12166653, PMID:12706724, PMID:16169011, PMID:17015493, PMID:17237499, PMID:17251047, PMID:18758829, PMID:19823769, PMID:20798201, PMID:20926324, PMID:21150067, PMID:21483992, PMID:21567908, PMID:22191674, PMID:22789865, PMID:22848519, PMID:23010210, PMID:23046579, PMID:23113155, PMID:23127958, PMID:23158871, PMID:23759947, PMID:24033266, PMID:24082139, PMID:24263030, PMID:24356898, PMID:24461908, PMID:24613245, PMID:24915922, PMID:25525159, PMID:25736553, PMID:25741868, PMID:26582265, PMID:27021291, PMID:27682710, PMID:27697305, PMID:28281504, PMID:28476546, PMID:28492532, PMID:29448188, PMID:29451896, PMID:30065954, PMID:30075786, PMID:31319225, PMID:32860008, PMID:2147027 RGD:1599422 NCBI chr 2:27,983,925...28,003,260
Ensembl chr 2:27,984,117...28,003,186
JBrowse link
Sandhoff Disease, Adult Type term browser
Symbol Object Name Qualifiers 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, PMID:7557963, PMID:8357844, PMID:8950198, PMID:9562328, PMID:12027830, PMID:12166653, PMID:17237499, PMID:20798201, PMID:20926324, PMID:21150067, PMID:22789865, PMID:23010210, PMID:23127958, PMID:23759947, PMID:24263030, PMID:25736553, PMID:25741868, PMID:28492532 NCBI chr 2:27,983,925...28,003,260
Ensembl chr 2:27,984,117...28,003,186
JBrowse link
Sandhoff Disease, Infantile Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexb hexosaminidase subunit beta ISO ClinVar Annotator: match by term: Sandhoff disease, infantile type ClinVar PMID:7633435, PMID:8045559, PMID:8162015, PMID:9888387, PMID:10982028, PMID:18758829, PMID:19823769, PMID:21483992, PMID:23010210, PMID:23046579, PMID:24613245, PMID:25741868, PMID:26582265, PMID:28492532, PMID:29448188 NCBI chr 2:27,983,925...28,003,260
Ensembl chr 2:27,984,117...28,003,186
JBrowse link
Sandhoff Disease, Juvenile Type term browser
Symbol Object Name Qualifiers 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, PMID:2170400, PMID:2522450, PMID:3014997, PMID:7557963, PMID:8106452, PMID:17237499, PMID:21150067, PMID:22789865, PMID:23127958, PMID:24263030, PMID:25736553, PMID:25741868, PMID:27021291, PMID:28492532 NCBI chr 2:27,983,925...28,003,260
Ensembl chr 2:27,984,117...28,003,186
JBrowse link
Tay-Sachs disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gm2a GM2 ganglioside activator ISO ClinVar Annotator: match by null ClinVar NCBI chr10:40,438,394...40,450,927
Ensembl chr10:40,438,356...40,450,930
JBrowse link
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-Sachs disease
ClinVar Annotator: match by OMIM:272800
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:803011, PMID:1269177, PMID:1301190, PMID:1301938, PMID:1301958, PMID:1302612, PMID:1307230, PMID:1318511, PMID:1322637, PMID:1384323, PMID:1387685, PMID:1415222, PMID:1483696, PMID:1532289, PMID:1827944, PMID:1827945, PMID:1830584, PMID:1831451, PMID:1832817, PMID:1833974, PMID:1837283, PMID:1996872, PMID:2137287, PMID:2140574, PMID:2141777, PMID:2144098, PMID:2145759, PMID:2220809, PMID:2278539, PMID:2294750, PMID:2521932, PMID:2522660, PMID:2522679, PMID:2531748, PMID:2824459, PMID:2837213, PMID:2848800, PMID:2934978, PMID:2954459, PMID:2961848, PMID:2970528, PMID:2973311, PMID:2973464, PMID:3362213, PMID:3375249, PMID:3754980, PMID:3837850, PMID:6236221, PMID:6959123, PMID:7063277, PMID:7551830, PMID:7717398, PMID:7749419, PMID:7827134, PMID:7837766, PMID:7858168, PMID:7902672, PMID:7951261, PMID:8044648, PMID:8081943, PMID:8230592, PMID:8326491, PMID:8328462, PMID:8328470, PMID:8343225, PMID:8352284, PMID:8397824, PMID:8444467, PMID:8445615, PMID:8484765, PMID:8488832, PMID:8490625, PMID:8730294, PMID:9073025, PMID:9090523, PMID:9090529, PMID:9150157, PMID:9153525, PMID:9169471, PMID:9222766, PMID:9272736, PMID:9338583, PMID:9603435, PMID:9694901, PMID:9851891, PMID:10083731, PMID:10464605, PMID:10571007, PMID:10584247, PMID:10852376, PMID:11161796, PMID:11317368, PMID:11392526, PMID:11463833, PMID:11596984, PMID:12027830, PMID:12108829, PMID:12180151, PMID:12202988, PMID:12689698, PMID:14566483, PMID:14577003, PMID:14648242, PMID:14727180, PMID:15065574, PMID:15108204, PMID:15714079, PMID:16088929, PMID:16199656, PMID:16352452, PMID:16698036, PMID:16948947, PMID:17001642, PMID:17015493, PMID:17237499, PMID:17259242, PMID:17412732, PMID:18358410, PMID:18490185, PMID:18648917, PMID:19091716, PMID:19156839, PMID:19330222, PMID:19644708, PMID:19815695, PMID:19858779, PMID:20100466, PMID:20301397, PMID:20363167, PMID:20672374, PMID:21228398, PMID:21567908, PMID:21796138, PMID:21967858, PMID:22006919, PMID:22025593, PMID:22344438, PMID:22390110, PMID:22441121, PMID:22723944, PMID:22789865, PMID:22975760, PMID:23035047, PMID:23820084, PMID:23852624, PMID:24033266, PMID:24088041, PMID:24374108, PMID:24498621, PMID:24518553, PMID:24767253, PMID:24940364, PMID:25287655, PMID:25326635, PMID:25525159, PMID:25557439, PMID:25606403, PMID:25741868, PMID:25741876, PMID:25860343, PMID:26467025, PMID:26633545, PMID:27033294, PMID:27054707, PMID:27896118, PMID:27959697, PMID:28492532, PMID:28503624, PMID:28739864, PMID:29482223, PMID:30311386, PMID:31076878, PMID:31428437, PMID:28974375 RGD:13673908 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
Tay-Sachs Disease, Juvenile term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by null ClinVar PMID:1301189 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link
Tay-Sachs Disease, Variant B1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hexa hexosaminidase subunit alpha ISO ClinVar Annotator: match by term: Tay-sachs disease, b1 variant
ClinVar Annotator: match by term: Tay-Sachs disease, B1 variant
ClinVar PMID:1302612, PMID:1318511, PMID:1831451, PMID:1832817, PMID:2137287, PMID:2521932, PMID:2961848, PMID:2973311, PMID:7551830, PMID:8730294, PMID:9272736, PMID:10584247, PMID:14577003, PMID:16088929, PMID:17015493, PMID:18490185, PMID:20100466, PMID:22441121, PMID:22789865, PMID:25741868, PMID:25741876, PMID:27896118, PMID:28492532 NCBI chr 8:64,325,435...64,350,775
Ensembl chr 8:64,325,435...64,350,773
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Nutritional and Metabolic Diseases 4725
      disease of metabolism 4725
        lipid metabolism disorder 900
          lipid storage disease 467
            sphingolipidosis 51
              gangliosidosis 10
                GM1 gangliosidosis + 3
                GM2 gangliosidosis + 7
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            Metabolic Brain Diseases 573
              Metabolic Brain Diseases, Inborn 502
                Lysosomal Storage Diseases, Nervous System 66
                  sphingolipidosis 51
                    gangliosidosis 10
                      GM1 gangliosidosis + 3
                      GM2 gangliosidosis + 7
paths to the root

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