Metadata | |
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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 | |
Parent Relationships |
is_a visceral heterotaxy |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |