Mondo Disease Ontology - Tay-Sachs disease - Classes | NCBO BioPortal

Mondo Disease Ontology

Last uploaded: February 4, 2025

Id	http://purl.obolibrary.org/obo/MONDO_0010100 http://purl.obolibrary.org/obo/MONDO_0010100
Preferred Name	Tay-Sachs disease
Definitions	GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.
Synonyms	B variant GM2 gangliosidosis GM2-gangliosidosis, variant B1 Tay-Sachs disease, variant B1 sphingolipidosis, Tay-Sachs Tay-Sachs disease, juvenile GM2-gangliosidosis, type 1 TSD TAY-Sachs disease B variant GM2-gangliosidosis hexa deficiency Tay-Sachs disease, pseudo-Ab variant hexosaminidase alpha-subunit deficiency (variant B) hexosaminidase a deficiency gangliosidosis GM2, type 1 GM2 gangliosidosis, type 1 GM2-gangliosidosis, adult chronic type hexosaminidase a deficiency, adult type disease, Tay-Sachs Tay Sachs Disease Tay-Sachs disease Hex A pseudodeficiency hexosaminidase A deficiency GM2 gangliosidosis, B, B1 variant GM2-gangliosidosis, several forms See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.
label	Tay-Sachs disease
prefLabel	Tay-Sachs disease
database_cross_reference	Orphanet:845 SCTID:111385000 MESH:D013661 MedDRA:10043147 NANDO:2201199 icd11.foundation:215008783 ICD10CM:E75.02 NCIT:C85184 MEDGEN:11713 OMIM:272800 GARD:7737 NORD:1761 UMLS:C0039373 SCTID:49562005 NANDO:1200071 DOID:3320 See more See less
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/4521
notation	MONDO:0010100
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare See more See less
has_related_synonym	B variant GM2 gangliosidosis GM2-gangliosidosis, variant B1 Tay-Sachs disease, variant B1 sphingolipidosis, Tay-Sachs Tay-Sachs disease, juvenile GM2-gangliosidosis, type 1 TSD TAY-Sachs disease B variant GM2-gangliosidosis hexa deficiency Tay-Sachs disease, pseudo-Ab variant hexosaminidase alpha-subunit deficiency (variant B) hexosaminidase a deficiency gangliosidosis GM2, type 1 GM2 gangliosidosis, type 1 GM2-gangliosidosis, adult chronic type hexosaminidase a deficiency, adult type See more See less
id	MONDO:0010100
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 https://omim.org/entry/272800 http://identifiers.org/medgen/11713 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/215008783 http://identifiers.org/snomedct/111385000 http://identifiers.org/mesh/D013661 See more See less
seeAlso	https://rarediseases.info.nih.gov/diseases/7737/tay-sachs-disease
subClassOf	http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0017720 http://purl.obolibrary.org/obo/MONDO_0004884 http://purl.obolibrary.org/obo/MONDO_0020127
curated content resource	https://search.clinicalgenome.org/kb/conditions/MONDO:0010100
skos_closeMatch	http://identifiers.org/meddra/10043147
type	http://www.w3.org/2002/07/owl#Class
has_exact_synonym	disease, Tay-Sachs Tay Sachs Disease Tay-Sachs disease Hex A pseudodeficiency hexosaminidase A deficiency GM2 gangliosidosis, B, B1 variant GM2-gangliosidosis, several forms See more See less
treeView	http://purl.obolibrary.org/obo/MONDO_0020143 http://purl.obolibrary.org/obo/MONDO_0017720 http://purl.obolibrary.org/obo/MONDO_0004884 http://purl.obolibrary.org/obo/MONDO_0020127

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