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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 13
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Accession:DOID:0110618 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. (DO)
Synonyms:exact_synonym: CILD13;   DNAAF1-RELATED CONDITION;   primary ciliary dyskinesia 13, with or without situs inversus
 primary_id: MESH:C567713
 alt_id: OMIM:613193


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primary ciliary dyskinesia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DNAAF1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 13		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19944400 PMID:19944405 More... NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313 		JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 ClinVar PMID:25741868 NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971 		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 13 2
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 13 2
paths to the root