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Metadata
ID DOID:0110608
Name primary ciliary dyskinesia 19
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 on chromosome 8q24.
https://www.ncbi.nlm.nih.gov/pubmed/23122589, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Xrefs

ICD10CM:Q34.8

OMIM:614935

Synonyms

CILD19 [EXACT]

primary ciliary dyskinesia 19 with or without situs inversus [EXACT]

Parent Relationships

is_a primary ciliary dyskinesia

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