Visualize Submit Comment
Metadata
ID DOID:0051025
Name visceral heterotaxy 11
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/
Xrefs

MIM:619608

Parent Relationships

is_a visceral heterotaxy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker