Search Ontology:
Human Disease

visceral heterotaxy 8

Term ID
DOID:0051022
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. https://pubmed.ncbi.nlm.nih.gov/27616478/
References
Ontology
Human Disease   ( DOID:0051022 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models