Term Name: | visceral heterotaxy 8 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0051022] ( DOID:0051022 ) |