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:
Ontology: Human Disease   (DOID:0080141)
OTHER mosaic variegated aneuploidy syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BUB1B Mosaic variegated aneuploidy syndrome 1 257300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None