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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 25
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Accession:DOID:0110615 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: CILD25;   primary ciliary dyskinesia 25, with or without situs inversus
 broad_synonym: DNAAF4-RELATED CONDITION
 primary_id: OMIM:615482


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primary ciliary dyskinesia 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf4 dynein axonemal assembly factor 4 ISO
ISS		 ClinVar Annotator: match by term: DNAAF4-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 25
CTD Direct Evidence: marker/mechanism
OMIM:615482		 ClinVar
CTD
MouseDO
OMIM		 PMID:12954984 PMID:23872636 PMID:24033266 PMID:24824133 PMID:25186273 More... NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      respiratory system disease 3611
        Ciliary Motility Disorders 374
          primary ciliary dyskinesia 354
            primary ciliary dyskinesia 25 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        Neurologic Manifestations 10043
          sensory system disease 6948
            Otorhinolaryngologic Diseases 1736
              Ciliary Motility Disorders 374
                primary ciliary dyskinesia 354
                  primary ciliary dyskinesia 25 1
paths to the root