visceral heterotaxy 11

Term ID

DOID:0051025

Synonyms

Definition

A visceral heterotaxy that is characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis and that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/33139725/

References

• MIM:619608

Ontology

Human Disease   ( DOID:0051025 )