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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_0110029
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n2:DOID_1099 _:vb50942381 n2:DOID_0060388
rdfs:label
alpha thalassemia-intellectual disability syndrome type 1
wdrs:describedby
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obo:id
DOID:0110029
obo:hasDbXref
OMIM:141750 ORDO:98791 ICD10CM:D56.0
obo:hasExactSynonym
alpha thalassemia-intellectual disability syndrome, deletion type ATR-16 syndrome alpha thalassemia-retardation syndrome alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 alpha-thalassemia/mental retardation syndrome, type 1 ATR syndrome linked to chromosome 16 ATR syndrome, deletion type alpha-thalassemia/mental retardation syndrome, deletion-type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others.
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