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DO Term : X-linked lissencephaly 2 [DOID:0112238] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3.
  • synonyms:
  • X-linked lissencephaly with ambiguous genitalia,
  • X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome,
  • OMIM:300215,
  • XLIS2,
  • XLAG,
  • X-linked lissencephaly with abnormal genitalia,
  • 300215,
  • ORDO:452,
  • XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents