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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:primary ciliary dyskinesia 44
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Accession:DOID:0111851 term browser browse the term
Definition:A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in NEK10 on chromosome 3p24.1. (DO)
Synonyms:exact_synonym: CILD44;   primary ciliary dyskinesia 44 without situs inversus
 primary_id: OMIM:618781
For additional species annotation, visit the Alliance of Genome Resources.



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primary ciliary dyskinesia 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek10 NIMA-related kinase 10 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44 OMIM
ClinVar
PMID:25741868 NCBI chr15:10,387,063...10,564,177
Ensembl chr15:10,381,140...10,559,722
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      Otorhinolaryngologic Diseases 1557
        Ciliary Motility Disorders 199
          primary ciliary dyskinesia 186
            primary ciliary dyskinesia 44 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        Congenital Abnormalities 6483
          Multiple Abnormalities 2970
            ciliopathy 659
              Ciliary Motility Disorders 199
                primary ciliary dyskinesia 186
                  primary ciliary dyskinesia 44 1
paths to the root