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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 41
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Accession:DOID:0111858 term browser browse the term
Definition:A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. (DO)
Synonyms:exact_synonym: CILD41;   GAS2L2-RELATED CONDITION
 primary_id: OMIM:618449


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primary ciliary dyskinesia 41 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gas2l2 growth arrest-specific 2 like 2 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 | ClinVar Annotator: match by term: GAS2L2-related condition OMIM
ClinVar		 PMID:25741868 PMID:30665704 NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      respiratory system disease 3615
        Ciliary Motility Disorders 376
          primary ciliary dyskinesia 355
            primary ciliary dyskinesia 41 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            Otorhinolaryngologic Diseases 1740
              Ciliary Motility Disorders 376
                primary ciliary dyskinesia 355
                  primary ciliary dyskinesia 41 1
paths to the root