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Namespace Prefixes

PrefixIRI
n5https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n3http://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
n3:DOID_0111263
rdf:type
owl:Class
rdfs:subClassOf
n3:DOID_0050737 _:vb50944503 _:vb50944504 n3:DOID_0060159
rdfs:label
combined malonic and methylmalonic acidemia
wdrs:describedby
n5:doid.owl
obo:id
DOID:0111263
obo:hasDbXref
MESH:C580002 UMLS_CUI:C3280314 SNOMEDCT_US_2021_09_01:702365002 ORDO:289504 OMIM:614265 GARD:10818
obo:hasExactSynonym
CMAMMA combined malonic and methylmalonic aciduria
obo:hasOBONamespace
disease_ontology
n3:IAO_0000115
An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3.
Subject Item
_:vb50944503
rdf:type
owl:Restriction
owl:onProperty
n3:IDO_0000664
owl:someValuesFrom
n3:GENO_0000148
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50944504
rdf:type
owl:Restriction
owl:onProperty
n3:RO_0002452
owl:someValuesFrom
n3:SYMP_0000465
wdrs:describedby
n5:doid.owl