Metadata | |
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ID | DOID:0111858 |
Name | primary ciliary dyskinesia 41 |
Definition | A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. https://www.ncbi.nlm.nih.gov/pubmed/30665704 |
Xrefs | |
Synonyms |
CILD41 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |