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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 38
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Accession:DOID:0111852 term browser browse the term
Definition:A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. (DO)
Synonyms:exact_synonym: CILD38;   primary ciliary dyskinesia 38 with or without situs inversus
 primary_id: OMIM:618063


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primary ciliary dyskinesia 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29727692 PMID:29727693 NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807 		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 38 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 38 1
paths to the root