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Namespace Prefixes

PrefixIRI
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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_0110595
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_9562
rdfs:label
Stromme syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0110595
obo:hasDbXref
ICD10CM:Q87.8 OMIM:243605
obo:hasExactSynonym
apple peel syndrome with microcephaly and ocular anomalies CILD31 lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome primary ciliary dyskinesia 31 jejunal atresia with microcephaly and ocular anomalies
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.