Visualize Submit Comment
Metadata
ID DOID:0051022
Name visceral heterotaxy 8
Definition A visceral heterotaxy that is characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs and that has_material_basis_in homozygous or compound heterozygous mutation in the PKD1L1 gene on chromosome 7p12.
https://pubmed.ncbi.nlm.nih.gov/27616478/
Xrefs

MIM:617205

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