Metadata | |
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ID | 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 |
Xrefs | |
Synonyms |
CILD1 [EXACT] primary ciliary dyskinesia 1 with or without situs inversus [EXACT] |
Parent Relationships |