Visualize
Metadata
DOID DOID:0110607
Name primary ciliary dyskinesia 28
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.
https://www.ncbi.nlm.nih.gov/pubmed/24055112, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Synonyms

CILD28 [EXACT]

primary ciliary dyskinesia 28 with or without situs inversus [EXACT]

Xrefs

ICD10CM:Q34.8

OMIM:615505

Relationships

is_a primary ciliary dyskinesia

Add an item to the term tracker