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DO Term : primary ciliary dyskinesia 39 [DOID:0111854] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
  • synonyms:
  • primary ciliary dyskinesia 39 with or without situs inversus,
  • CILD39,
  • OMIM:618254,
  • 618254
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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