Term Name: | mosaic variegated aneuploidy syndrome 3 |
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Synonyms: | |
Definition: | A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. |
Ontology: | Human Disease [DOID:0080689] ( DOID:0080689 ) |