loading...| Preferred Name | Tay-Sachs disease | |
| Synonyms |
hexosaminidase alpha-subunit deficiency (variant B) gangliosidosis GM2, type 1 hexa deficiency GM2 gangliosidosis, type 1 B variant GM2 gangliosidosis hexosaminidase a deficiency, adult type GM2-gangliosidosis, type 1 B variant GM2-gangliosidosis hexosaminidase a deficiency TAY-Sachs disease Tay-Sachs disease, variant B1 sphingolipidosis, Tay-Sachs GM2-gangliosidosis, adult chronic type GM2-gangliosidosis, variant B1 Tay-Sachs disease, pseudo-Ab variant Tay-Sachs disease, juvenile TSD GM2-gangliosidosis, several forms disease, Tay-Sachs Hex A pseudodeficiency Tay-Sachs disease Tay Sachs Disease hexosaminidase A deficiency GM2 gangliosidosis, B, B1 variant |
|
| Definitions |
GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010100 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0010100 |
|
| database_cross_reference |
UMLS:C0039373 MESH:D013661 Orphanet:845 MEDGEN:11713 SCTID:111385000 OMIM:272800 ICD10CM:E75.02 NANDO:2201199 NCIT:C85184 MedDRA:10043147 icd11.foundation:215008783 NANDO:1200071 SCTID:49562005 DOID:3320 GARD:7737 NORD:1761 |
|
| definition |
GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. |
|
| has_exact_synonym |
GM2-gangliosidosis, several forms disease, Tay-Sachs Hex A pseudodeficiency Tay-Sachs disease Tay Sachs Disease hexosaminidase A deficiency GM2 gangliosidosis, B, B1 variant |
|
| has_related_synonym |
hexosaminidase alpha-subunit deficiency (variant B) gangliosidosis GM2, type 1 hexa deficiency GM2 gangliosidosis, type 1 B variant GM2 gangliosidosis hexosaminidase a deficiency, adult type GM2-gangliosidosis, type 1 B variant GM2-gangliosidosis hexosaminidase a deficiency TAY-Sachs disease Tay-Sachs disease, variant B1 sphingolipidosis, Tay-Sachs GM2-gangliosidosis, adult chronic type GM2-gangliosidosis, variant B1 Tay-Sachs disease, pseudo-Ab variant Tay-Sachs disease, juvenile TSD |
|
| IAO_0000233 | ||
| id |
MONDO:0010100 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
Tay-Sachs disease |
|
| notation |
MONDO:0010100 |
|
| preferred label |
Tay-Sachs disease |
|
| prefLabel |
Tay-Sachs disease |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/snomedct/49562005 http://purl.obolibrary.org/obo/NCIT_C85184 http://linkedlifedata.com/resource/umls/id/C0039373 http://purl.obolibrary.org/obo/Orphanet_845 http://purl.obolibrary.org/obo/DOID_3320 http://purl.bioontology.org/ontology/ICD10CM/E75.02 http://identifiers.org/medgen/11713 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/215008783 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0017720 |