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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 GAS2L2 on chromosome 17q12. (DO)
Synonyms:exact_synonym: CILD41
 primary_id: OMIM:618449
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM
ClinVar
PMID:30665704 NCBI chr10:70,639,429...70,646,402
Ensembl chr10:70,639,862...70,646,495
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      ciliopathy 224
        Ciliary Motility Disorders 107
          primary ciliary dyskinesia 98
            primary ciliary dyskinesia 41 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4793
          Multiple Abnormalities 1729
            ciliopathy 224
              Ciliary Motility Disorders 107
                primary ciliary dyskinesia 98
                  primary ciliary dyskinesia 41 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.