ZFIN Human Disease: mosaic variegated aneuploidy syndrome 1

OBO ID: DOID:0080141

Term Name:	mosaic variegated aneuploidy syndrome 1		Search Ontology:
Synonyms:
Definition:	A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome
References:	OMIM:257300
Ontology:	Human Disease ( DOID:0080141 )

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 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
BUB1B	bub1ba bub1bb	Mosaic variegated aneuploidy syndrome 1	257300

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None