primary ciliary dyskinesia 16

Summary

DOID:0110613 - primary ciliary dyskinesia 16

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.

Synonyms: CILD16, primary ciliary dyskinesia 16 with or without situs inversus

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dnal1

MIM:

MIM:614017 - ciliary dyskinesia, primary, 16; cild16

MIM:614017 - ciliary dyskinesia, primary, 16; cild16

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)