OBO ID: DOID:0080689
Term Name: mosaic variegated aneuploidy syndrome 3 Search Ontology:
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)
OTHER mosaic variegated aneuploidy syndrome 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TRIP13 Mosaic variegated aneuploidy syndrome 3 617598
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None