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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 52
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Accession:DOID:9003681 term browser browse the term
Definition:An autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects. Caused by homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36.
Synonyms:exact_synonym: CILD52;   primary ciliary dyskinesia 52, with or without situs invertus
 primary_id: OMIM:620570


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Primary Ciliary Dyskinesia 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAW1 dynein assembly factor with WD repeats 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 52 OMIM
ClinVar		 PMID:25741868 PMID:28991257 PMID:36074124 NCBI chr2B:115,110,201...115,164,889
Ensembl chr2B:233,919,673...233,973,529 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15697
    disease of anatomical entity 15311
      respiratory system disease 3356
        Ciliary Motility Disorders 379
          primary ciliary dyskinesia 361
            Primary Ciliary Dyskinesia 52 1
Path 2
Term Annotations click to browse term
  disease 15697
    disease of anatomical entity 15311
      nervous system disease 13350
        Neurologic Manifestations 9706
          sensory system disease 6706
            Otorhinolaryngologic Diseases 1678
              Ciliary Motility Disorders 379
                primary ciliary dyskinesia 361
                  Primary Ciliary Dyskinesia 52 1
paths to the root