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Namespace Prefixes

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dc	http://purl.org/dc/elements/1.1/
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

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owl:Axiom

wdrs:describedby

n7:doid.owl

dc:type

n4:ECO_0007645 n4:ECO_0007646

owl:annotatedProperty

n4:IAO_0000115

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An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of FLNA on chromosome Xq28.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/12612583 url:https://www.ncbi.nlm.nih.gov/pubmed/20301567