This HTML5 document contains 23 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n5	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
n8	http://purl.obolibrary.org/obo/doid#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

n2:DOID_3320

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_3321 _:vb50951794

rdfs:label

Tay-Sachs disease

rdfs:comment

OMIM mapping confirmed by DO. [SN].

wdrs:describedby

n5:doid.owl

obo:id

DOID:3320

obo:hasDbXref

GARD:7737 SNOMEDCT_US_2021_09_01:111385000 UMLS_CUI:C0039373 ICD10CM:E75.02 MESH:D013661 OMIM:272800 NCI:C85184

obo:hasExactSynonym

GM2 gangliosidosis, type 1 hexosaminidase A deficiency

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:NCIthesaurus

n2:IAO_0000115

A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.

Subject Item

_:vb50951794

rdf:type

owl:Restriction

owl:onProperty

n2:RO_0002488

owl:someValuesFrom

n2:HP_0011463

wdrs:describedby

n5:doid.owl