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Echinobase
Summary Literature (0)
DOID:0110594 - primary ciliary dyskinesia 1


Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.

Synonyms: CILD1, primary ciliary dyskinesia 1 with or without situs inversus,

Echinobase Genes : dnai1


OMIM:
MIM:244400 - ciliary dyskinesia, primary, 1; cild1

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

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