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DO Term : syndromic X-linked intellectual disability Hedera type [DOID:0060806] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
  • synonyms:
  • MRXE,
  • 300423,
  • OMIM:300423,
  • MRXSH,
  • X-linked mental retardation with epilepsy,
  • ORDO:93952,
  • mental retardation, X-linked, syndromic, Hedera type
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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





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