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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 39
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Accession:DOID:0111854 term browser browse the term
Definition:A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in LRRC56 on chromosome 11p15.5. (DO)
Synonyms:exact_synonym: CILD39;   primary ciliary dyskinesia 39 with or without situs inversus
 primary_id: OMIM:618254
For additional species annotation, visit the Alliance of Genome Resources.



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primary ciliary dyskinesia 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30388400 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    sensory system disease 6409
      Otorhinolaryngologic Diseases 1664
        Ciliary Motility Disorders 201
          primary ciliary dyskinesia 188
            primary ciliary dyskinesia 39 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        Congenital Abnormalities 6764
          Multiple Abnormalities 3120
            ciliopathy 666
              Ciliary Motility Disorders 201
                primary ciliary dyskinesia 188
                  primary ciliary dyskinesia 39 1
paths to the root