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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 50
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Accession:DOID:9003633 term browser browse the term
Definition:A primary ciliary dyskinesia characterized by chronic sinusitis and bronchitis as well as male infertility. Caused by homozygous or compound heterozygous mutation in the DNAH7 gene on chromosome 2q32.
Synonyms:exact_synonym: CILD50
 primary_id: OMIM:620356



show annotations for term's descendants           Sort by:
Primary Ciliary Dyskinesia 50 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah7 dynein, axonemal, heavy chain 7 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 50 OMIM
ClinVar
PMID:34476482 PMID:35543642 NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      respiratory system disease 3603
        Ciliary Motility Disorders 369
          primary ciliary dyskinesia 353
            Primary Ciliary Dyskinesia 50 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        Neurologic Manifestations 10017
          sensory system disease 6930
            Otorhinolaryngologic Diseases 1723
              Ciliary Motility Disorders 369
                primary ciliary dyskinesia 353
                  Primary Ciliary Dyskinesia 50 1
paths to the root