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DO Term : X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome [DOID:0060828] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28.
  • synonyms:
  • OMIM:300886,
  • mental retardation, X-linked, syndromic 32,
  • MRXS32,
  • ORDO:324410,
  • 300886
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Ontology

Ontology Term --> All ancestors

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Ontology Term --> Direct children

Ontology Term --> Direct parents