Visualize Submit Comment

Metadata
ID	DOID:0080689
Name	mosaic variegated aneuploidy syndrome 3
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. https://pubmed.ncbi.nlm.nih.gov/28553959/
Xrefs	MIM:617598
Parent Relationships	is_a autosomal recessive disease is_a mosaic variegated aneuploidy syndrome
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance