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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 42
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Accession:DOID:0111855 term browser browse the term
Definition:A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in MCIDAS on chromosome 5q11.2. (DO)
Synonyms:exact_synonym: CILD42;   primary ciliary dyskinesia 42 without situs inversus
 primary_id: OMIM:618695
For additional species annotation, visit the Alliance of Genome Resources.



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primary ciliary dyskinesia 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 OMIM
ClinVar
PMID:1523039 PMID:8813877 PMID:24033266 PMID:25048963 PMID:25741868 More... NCBI chr 2:44,636,581...44,643,730
Ensembl chr 2:44,636,856...44,642,601
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      Otorhinolaryngologic Diseases 1665
        Ciliary Motility Disorders 201
          primary ciliary dyskinesia 188
            primary ciliary dyskinesia 42 1
Path 2
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11670
        Congenital Abnormalities 6765
          Multiple Abnormalities 3120
            ciliopathy 666
              Ciliary Motility Disorders 201
                primary ciliary dyskinesia 188
                  primary ciliary dyskinesia 42 1
paths to the root