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DO Term : primary ciliary dyskinesia 3 [DOID:0110599] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.
  • synonyms:
  • 608644,
  • OMIM:608644,
  • ICD10CM:Q34.8,
  • CILD3,
  • primary ciliary dyskinesia 3 with or without situs inversus
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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