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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 43
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Accession:DOID:0111856 term browser browse the term
Definition:A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. (DO)
Synonyms:exact_synonym: CILD43;   primary ciliary dyskinesia 43 with or without situs inversus
 primary_id: OMIM:618699
 xref: MONDO:0032874


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primary ciliary dyskinesia 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxj1 forkhead box J1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 43 OMIM
ClinVar		 PMID:25741868 PMID:31630787 PMID:33077954 PMID:34132502 NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      respiratory system disease 3615
        Ciliary Motility Disorders 376
          primary ciliary dyskinesia 355
            primary ciliary dyskinesia 43 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            Otorhinolaryngologic Diseases 1740
              Ciliary Motility Disorders 376
                primary ciliary dyskinesia 355
                  primary ciliary dyskinesia 43 1
paths to the root