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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 14
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Accession:DOID:0110598 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. (DO)
Synonyms:exact_synonym: CCDC39-RELATED CONDITION;   CILD14;   primary ciliary dyskinesia 14, with or without situs inversus
 primary_id: OMIM:613807
 alt_id: OMIA:001540


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primary ciliary dyskinesia 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613807
ClinVar Annotator: match by term: CCDC39-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 14		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:22499950 More... NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 ClinVar PMID:21131972 PMID:23255504 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      respiratory system disease 3611
        Ciliary Motility Disorders 374
          primary ciliary dyskinesia 354
            primary ciliary dyskinesia 14 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        Neurologic Manifestations 10043
          sensory system disease 6948
            Otorhinolaryngologic Diseases 1736
              Ciliary Motility Disorders 374
                primary ciliary dyskinesia 354
                  primary ciliary dyskinesia 14 2
paths to the root