About: alpha thalassemia-intellectual disability syndrome type 1

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	chromosomal deletion syndrome alpha thalassemia nodeID://b50942381
label	alpha thalassemia-intellectual disability syndrome type 1
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110029
database_cross_reference	ICD10CM:D56.0 OMIM:141750 ORDO:98791
has_exact_synonym	alpha-thalassemia/mental retardation syndrome, type 1 (en) alpha-thalassemia/mental retardation syndrome, deletion-type (en) ATR syndrome linked to chromosome 16 (en) ATR syndrome, deletion type (en) ATR-16 syndrome (en) alpha thalassemia-retardation syndrome (en) alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 (en) alpha thalassemia-intellectual disability syndrome, deletion type (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50942386

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