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DO Term : syndromic X-linked intellectual disability Pilorge type [DOID:0070422] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22.
  • synonyms:
  • OMIM:301076,
  • MRXSP,
  • 301076
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents