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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 21
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Accession:DOID:0110596 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. (DO)
Synonyms:exact_synonym: CILD21;   primary ciliary dyskinesia 21 without situs inversus
 primary_id: OMIM:615294


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primary ciliary dyskinesia 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Drc1 dynein regulatory complex subunit 1 ISO
ISS		 ClinVar Annotator: match by term: Primary ciliary dyskinesia 21
CTD Direct Evidence: marker/mechanism
OMIM:615294		 OMIM
ClinVar
CTD
MouseDO		 PMID:12746204 PMID:16199547 PMID:23354437 PMID:24033266 PMID:25741868 More... NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      respiratory system disease 3600
        Ciliary Motility Disorders 364
          primary ciliary dyskinesia 351
            primary ciliary dyskinesia 21 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        Neurologic Manifestations 9982
          sensory system disease 6883
            Otorhinolaryngologic Diseases 1699
              Ciliary Motility Disorders 364
                primary ciliary dyskinesia 351
                  primary ciliary dyskinesia 21 1
paths to the root