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DO Term : Christianson syndrome [DOID:0060825] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26.
  • synonyms:
  • OMIM:300243,
  • GARD:10572,
  • UMLS_CUI:C1846130,
  • MESH:C537450,
  • X-linked intellectual disability, South African type,
  • X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome,
  • MRXSCH,
  • mental retardation, microcephaly, epilepsy, and ataxia syndrome,
  • ORDO:85278,
  • X-linked Angelman-like syndrome,
  • mental retardation, X-linked syndromic, Christianson type,
  • 300243
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Ontology

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Ontology Term --> Direct children

Ontology Term --> Direct parents