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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 5
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Accession:DOID:0110617 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. (DO)
Synonyms:exact_synonym: CILD5;   primary ciliary dyskinesia 5 without situs inversus
 primary_id: MESH:C563886
 alt_id: OMIM:608647


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primary ciliary dyskinesia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hydin Hydin, axonemal central pair apparatus protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 5		 OMIM
CTD
ClinVar		 PMID:14985390 PMID:23022101 PMID:23849777 PMID:24033266 PMID:25741868 More... NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      respiratory system disease 3609
        Ciliary Motility Disorders 374
          primary ciliary dyskinesia 354
            primary ciliary dyskinesia 5 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            Otorhinolaryngologic Diseases 1735
              Ciliary Motility Disorders 374
                primary ciliary dyskinesia 354
                  primary ciliary dyskinesia 5 1
paths to the root