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Namespace Prefixes

PrefixIRI
n6https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
n8http://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_0060020
rdf:type
owl:Class
rdfs:subClassOf
_:vb50938071 _:vb50938072 _:vb50938073 n2:DOID_0050737 n2:DOID_627
rdfs:label
reticular dysgenesis
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n6:doid.owl
obo:id
DOID:0060020
obo:hasAlternativeId
DOID:1226
obo:hasDbXref
MESH:C538361 NCI:C27070 GARD:8625 UMLS_CUI:C0272167 OMIM:267500 SNOMEDCT_US_2021_09_01:111584000
obo:hasExactSynonym
De Vaal disease
obo:hasOBONamespace
disease_ontology
obo:hasRelatedSynonym
aleukocytosis
obo:inSubset
n8:NCIthesaurus
n2:IAO_0000115
A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions.
Subject Item
_:vb50938071
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50938072
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002200
owl:someValuesFrom
n2:HP_0000777
wdrs:describedby
n6:doid.owl
Subject Item
_:vb50938073
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000086
wdrs:describedby
n6:doid.owl