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DO Term : corpus callosum agenesis-abnormal genitalia syndrome [DOID:0112151] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3.
  • synonyms:
  • ORDO:2508,
  • corpus callosum agenesis with abnormal genitalia,
  • GARD:4528,
  • microcephaly-corpus callosum agenesis-abnormal genitalia syndrome,
  • OMIM:300004,
  • Proud-Levine-Carpenter syndrome,
  • ACC with abnormal genitalia,
  • 300004,
  • Proud syndrome
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Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents