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Metadata
DOID DOID:0110594
Name primary ciliary dyskinesia 1
Definition A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
https://www.ncbi.nlm.nih.gov/pubmed/10577904, https://www.ncbi.nlm.nih.gov/pubmed/26998415
Synonyms

CILD1 [EXACT]

primary ciliary dyskinesia 1 with or without situs inversus [EXACT]

Xrefs

ICD10CM:Q34.8

OMIM:244400

Relationships

is_a primary ciliary dyskinesia

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