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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
skoshttp://www.w3.org/2004/02/skos/core#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
n9http://purl.obolibrary.org/obo/doid#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_3323
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_3321
rdfs:label
Sandhoff disease
rdfs:comment
OMIM mapping confirmed by DO. [SN].
skos:exactMatch
MESH:D012497
wdrs:describedby
n7:doid.owl
obo:id
DOID:3323
obo:hasDbXref
MESH:D012497 OMIM:268800 SNOMEDCT_US_2021_09_01:23849003 ICD10CM:E75.01 NCI:C85052 UMLS_CUI:C0036161 GARD:7604
obo:hasExactSynonym
Sandhoff Jatzkewitz disease
obo:hasOBONamespace
disease_ontology
obo:inSubset
n9:NCIthesaurus
n2:IAO_0000115
A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13.