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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#
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_0111678
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 _:vb50945260 n2:DOID_0050718
rdfs:label
hereditary folate malabsorption
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111678
obo:hasDbXref
NCI:C156424 OMIM:229050 UMLS_CUI:C0342705 MESH:C562799 ORDO:90045 GARD:12983 SNOMEDCT_US_2021_09_01:62578003
obo:hasExactSynonym
congenital folate malabsorption congenital defect of folate absorption
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in SLC46A1 on chromosome 17q11.2.
Subject Item
_:vb50945260
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n7:doid.owl