Metadata | |
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ID | DOID:0110628 |
Name | primary ciliary dyskinesia 24 |
Definition | A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. https://www.ncbi.nlm.nih.gov/pubmed/23993197 |
Xrefs | |
Synonyms |
CILD24 [EXACT] primary ciliary dyskinesia 24 without situs inversus [EXACT] |
Parent Relationships |