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DO Term : mosaic variegated aneuploidy syndrome 1 [DOID:0080141] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15.
  • synonyms:
  • 257300,
  • OMIM:257300
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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