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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 34
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Accession:DOID:0110610 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: CILD34;   CILIARY DYSKINESIA, PRIMARY, 34, WITHOUT SITUS INVERSUS
 primary_id: OMIM:617091


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primary ciliary dyskinesia 34 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 34
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:27486783 PMID:28492532 NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963 		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 34 1
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 34 1
paths to the root