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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:25048963 PMID:30237576 NCBI chr 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    sensory system disease 5168
      Otorhinolaryngologic Diseases 1152
        Ciliary Motility Disorders 111
          primary ciliary dyskinesia 102
            primary ciliary dyskinesia 42 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        Congenital Abnormalities 4716
          Multiple Abnormalities 1762
            ciliopathy 237
              Ciliary Motility Disorders 111
                primary ciliary dyskinesia 102
                  primary ciliary dyskinesia 42 1
paths to the root