|  Help  |  About  |  Contact Us

DO Term : primary ciliary dyskinesia 42 [DOID:0111855] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2.
  • synonyms:
  • CILD42,
  • 618695,
  • primary ciliary dyskinesia 42 without situs inversus,
  • OMIM:618695
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents