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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 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:31761138, 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 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: Infantile GM1 gangliosidosis
ClinVar Annotator: match by term: GM1-gangliosidosis, type I, with cardiac involvement
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 PMID:31761138 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:23757202 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: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 PMID:31761138 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: GM1 gangliosidosis type 3
ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, 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:26646981 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:8230592 PMID:8352284 PMID:8488832 PMID:8490625 PMID:10571007 PMID:11463833 PMID:14727180 PMID:16088929 PMID:16352452 PMID:18358410 PMID:20301397 PMID:20672374 PMID:21228398 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 term: Tay-sachs disease, juvenile/adult
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:9090523 PMID:9090529 PMID:9150157 PMID:9153525 PMID:9169471 PMID:9222766 PMID:9272736 PMID:9338583 PMID:9401008 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:12180151 PMID:12202988 PMID:12689698 PMID:14566483 PMID:14577003 PMID:14648242 PMID:14727180 PMID:15065574 PMID:15108204 PMID:15714079 PMID:16088929 PMID:16352452 PMID:16698036 PMID:16948947 PMID:17001642 PMID:17015493 PMID:17237499 PMID:17259242 PMID:18358410 PMID:18490185 PMID:18648917 PMID:19091716 PMID:19156839 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: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:31839005, 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 16085
    Nutritional and Metabolic Diseases 4739
      disease of metabolism 4739
        lipid metabolism disorder 908
          lipid storage disease 464
            sphingolipidosis 50
              gangliosidosis 9
                GM1 gangliosidosis + 2
                GM2 gangliosidosis + 7
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            Metabolic Brain Diseases 576
              Metabolic Brain Diseases, Inborn 506
                Lysosomal Storage Diseases, Nervous System 65
                  sphingolipidosis 50
                    gangliosidosis 9
                      GM1 gangliosidosis + 2
                      GM2 gangliosidosis + 7
paths to the root