Metadata | |
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ID | DOID:0110600 |
Name | primary ciliary dyskinesia 29 |
Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. https://www.ncbi.nlm.nih.gov/pubmed/24747639, https://www.ncbi.nlm.nih.gov/pubmed/26998415 |
Xrefs | |
Synonyms |
CILD29 [EXACT] primary ciliary dyskinesia 29 without situs inversus [EXACT] |
Parent Relationships |