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Summary Literature (0)
DOID:0111852 - primary ciliary dyskinesia 38


Disease Ontology Definition: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 the CFAP300 gene on chromosome 11q22.1.

Synonyms: CILD38, primary ciliary dyskinesia 38 with or without situs inversus

Xenbase Genes : cfap300



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), primary ciliary dyskinesia (is_a)