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Metadata
ID DOID:0110603
Name primary ciliary dyskinesia 32
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.
https://www.ncbi.nlm.nih.gov/pubmed/26073779
Xrefs

ICD10CM:Q34.8

OMIM:616481

Synonyms

CILD32 [EXACT]

primary ciliary dyskinesia 32 without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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