Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: odad2 (Xtr)
Source: DOID:0110609
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.
Genes: odad2 (Xtr)
Disease
Source: DOID:0050144
Definition: A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development.
Genes: odad2 (Xtr)
Disease
Source: DOID:0050545
Definition: A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen.
Genes: odad2 (Xtr)