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Metadata
DOID DOID:0110620
Name primary ciliary dyskinesia 35
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21.
https://www.ncbi.nlm.nih.gov/pubmed/27486780
Synonyms

CILD35 [EXACT]

primary ciliary dyskinesia 35 with or without situs inversus [EXACT]

Xrefs

OMIM:617092

Relationships

is_a primary ciliary dyskinesia

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