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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 9
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Accession:DOID:0110622 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: CILD9;   DNAI2-RELATED CONDITION;   primary ciliary dyskinesia 9, with or without situs inversus
 primary_id: MESH:C567310
 alt_id: OMIM:612444



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primary ciliary dyskinesia 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnai2 dynein, axonemal, intermediate chain 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DNAI2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 9
OMIM
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18950741 PMID:20301301 More... NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      respiratory system disease 3603
        Ciliary Motility Disorders 369
          primary ciliary dyskinesia 353
            primary ciliary dyskinesia 9 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        Neurologic Manifestations 10017
          sensory system disease 6930
            Otorhinolaryngologic Diseases 1723
              Ciliary Motility Disorders 369
                primary ciliary dyskinesia 353
                  primary ciliary dyskinesia 9 1
paths to the root