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Metadata
ID DOID:0110612
Name primary ciliary dyskinesia 10
Definition A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21.
https://www.ncbi.nlm.nih.gov/pubmed/19052621
Xrefs

ICD10CM:Q34.8

MIM:612518

Synonyms

CILD10 [EXACT]

primary ciliary dyskinesia 10 with or without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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