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DO Term : mosaic variegated aneuploidy syndrome 4 [DOID:0060981] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23.
  • synonyms:
  • OMIM:620153,
  • MVA4,
  • 620153
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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