Search Ontology:
Human Disease

mosaic variegated aneuploidy syndrome 3

Term ID
DOID:0080689
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. https://pubmed.ncbi.nlm.nih.gov/28553959/
References
Ontology
Human Disease   ( DOID:0080689 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models