Metadata | |
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ID | DOID:0051025 |
Name | visceral heterotaxy 11 |
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 or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23. https://pubmed.ncbi.nlm.nih.gov/33139725/ |
Xrefs | |
Parent Relationships |
is_a visceral heterotaxy |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |