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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
Xenbase Genes
:
gas2l2,
dnai1
| MONDO:0009484 - primary ciliary dyskinesia 1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
primary ciliary dyskinesia (is_a)