CILD38primary ciliary dyskinesia 38 with or without situs inversus
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in CFAP300 on chromosome 11q22.1.