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mosaic variegated aneuploidy syndrome 3
Summary
- 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.
- Super Class
- autosomal recessive disease mosaic variegated aneuploidy syndrome
External Links
- Disease Ontology
- DOID:0080689
- Mondo Disease Ontology
- OMIM
