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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 49
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Accession:DOID:9005405 term browser browse the term
Definition:An autosomal recessive disorder characterized by the onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance. Caused by compound heterozygous mutation in the CFAP74 gene on chromosome 1p36.
Synonyms:exact_synonym: CILD49;   primary ciliary dyskinesia-49 without situs inversus
 primary_id: OMIM:620197


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Primary Ciliary Dyskinesia 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus OMIM
ClinVar		 PMID:25741868 PMID:32555313 PMID:36047773 NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      respiratory system disease 3345
        Ciliary Motility Disorders 361
          primary ciliary dyskinesia 344
            Primary Ciliary Dyskinesia 49 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      nervous system disease 12960
        Neurologic Manifestations 9418
          sensory system disease 6507
            Otorhinolaryngologic Diseases 1660
              Ciliary Motility Disorders 361
                primary ciliary dyskinesia 344
                  Primary Ciliary Dyskinesia 49 1
paths to the root