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Metadata
DOID DOID:0110602
Name primary ciliary dyskinesia 11
Definition A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22.
https://www.ncbi.nlm.nih.gov/pubmed/19200523
Synonyms

CILD11 [EXACT]

primary ciliary dyskinesia 11 without situs inversus [EXACT]

Xrefs

ICD10CM:Q34.8

OMIM:612649

Relationships

is_a primary ciliary dyskinesia

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