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Metadata
ID DOID:0110611
Name primary ciliary dyskinesia 27
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.
https://www.ncbi.nlm.nih.gov/pubmed/24094744
Xrefs

ICD10CM:Q34.8

OMIM:615504

Synonyms

CILD27 [EXACT]

primary ciliary dyskinesia 27 without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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