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GENE - TERM ANNOTATION REPORT

RGD ID: 621797
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dnah6
Name: dynein, axonemal, heavy chain 6
Acc ID: DOID:0111857
Term: primary ciliary dyskinesia 45
Definition: A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/31978331 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Dnah6 ISODNAH6 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45PMID:25741868
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