This HTML5 document contains 34 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

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#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
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_0111401
rdf:type
owl:Class
rdfs:subClassOf
_:vb50944747 _:vb50944748 n2:DOID_0050737 n2:DOID_1338
rdfs:label
congenital dyserythropoietic anemia type II
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111401
obo:hasDbXref
SNOMEDCT_US_2021_09_01:68870007 UMLS_CUI:C1306589 GARD:2001 MESH:D000742 NCI:C175991 OMIM:224100 ORDO:98873
obo:hasExactSynonym
Congenital dyserythropoietic anemia type 2 CDA type 2 CDA II congenital dyserythropoietic anaemia type II SEC23B-CDG Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas) CDA type II CDAN2 Congenital dyserythropoietic anaemia type 2
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in SEC23B on chromosome 20p11.23.
Subject Item
_:vb50944747
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50944748
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n7:doid.owl