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Metadata
ID DOID:0110617
Name primary ciliary dyskinesia 5
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22.
https://www.ncbi.nlm.nih.gov/pubmed/23022101
Xrefs

ICD10CM:Q34.8

OMIM:608647

Synonyms

CILD5 [EXACT]

primary ciliary dyskinesia 5 without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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