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Namespace Prefixes

PrefixIRI
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n5http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
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
_:vb50938828
rdf:type
owl:Axiom
wdrs:describedby
n3:doid.owl
owl:annotatedProperty
n5:IAO_0000115
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n5:DOID_0060428
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A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2.
obo:hasDbXref
url:https://www.ncbi.nlm.nih.gov/books/NBK458647/ url:https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome