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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 CFAP300 on chromosome 11q22.1. (DO)
Synonyms:exact_synonym: CILD38;   primary ciliary dyskinesia 38 with or without situs inversus
 primary_id: OMIM:618063
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:29727692, PMID:29727693 NCBI chr 8:6,218,391...6,236,438
Ensembl chr 8:6,218,393...6,235,967
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      Otorhinolaryngologic Diseases 1185
        Ciliary Motility Disorders 107
          primary ciliary dyskinesia 98
            primary ciliary dyskinesia 38 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Congenital Abnormalities 4791
          Multiple Abnormalities 1729
            ciliopathy 224
              Ciliary Motility Disorders 107
                primary ciliary dyskinesia 98
                  primary ciliary dyskinesia 38 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.