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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 17
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Accession:DOID:0110621 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: CILD17;   primary ciliary dyskinesia 17, with or without situs inversus
 primary_id: OMIM:614679


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primary ciliary dyskinesia 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757 		JBrowse link
G FAM187A family with sequence similarity 187, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 ClinVar PMID:28492532 NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471 		JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 ClinVar NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      respiratory system disease 3616
        Ciliary Motility Disorders 376
          primary ciliary dyskinesia 355
            primary ciliary dyskinesia 17 3
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        Neurologic Manifestations 10102
          sensory system disease 7022
            Otorhinolaryngologic Diseases 1741
              Ciliary Motility Disorders 376
                primary ciliary dyskinesia 355
                  primary ciliary dyskinesia 17 3
paths to the root