ZFIN Human Disease: mosaic variegated aneuploidy syndrome 3

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:	OMIM:617598
Ontology:	Human Disease ( DOID:0080689 )

Relationships

is a type of:	autosomal recessive disease mosaic variegated aneuploidy syndrome autosomal recessive disease mosaic variegated aneuploidy syndrome Show first 5 Terms

OTHER mosaic variegated aneuploidy syndrome 3 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TRIP13	trip13	Mosaic variegated aneuploidy syndrome 3	617598

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None