FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term mosaic variegated aneuploidy syndrome 1 ID (Ontology) DOID:0080141 (Human Disease)
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.
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 mosaic variegated aneuploidy syndrome 1       1
 for disease ribbon | mosaic variegated aneuploidy syndrome 1       1
 model of | mosaic variegated aneuploidy syndrome 1       1
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autosomal genetic disease
 |__autosomal recessive disease____________
syndrome                                   |
 |__mosaic variegated aneuploidy syndrome__|
                                           mosaic variegated aneuploidy syndrome 1  1 rec.
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Is a autosomal recessive disease
mosaic variegated aneuploidy syndrome
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MIM:257300