Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 38
go back to main search page
Accession:DOID:0111852 term browser browse the term
Definition:A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in CFAP300 on chromosome 11q22.1. (DO)
Synonyms:exact_synonym: CILD38;   primary ciliary dyskinesia 38 with or without situs inversus
 primary_id: OMIM:618063
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
primary ciliary dyskinesia 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap300 cilia and flagella associated protein 300 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29727692 PMID:29727693 NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
JBrowse link

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 38 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 38 1
paths to the root