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Summary Literature (0)
DOID:0080141 - mosaic variegated aneuploidy syndrome 1


Disease Ontology Definition: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:

Xenbase Genes : bub1b

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009759 - mosaic variegated aneuploidy syndrome 1

OMIM:
OMIM:257300 - MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1; MVA1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), mosaic variegated aneuploidy syndrome (is_a), syndrome (is_a)