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Metadata
ID DOID:0051024
Name visceral heterotaxy 10
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 mutation in the CFAP52 gene on chromosome 17p13.
https://pubmed.ncbi.nlm.nih.gov/33139725/
Xrefs

MIM:619607

Parent Relationships

is_a visceral heterotaxy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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