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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:CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY
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Accession:DOID:9005352 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Caused by homozygous mutation in the TP73 gene on chromosome 1p36.
Synonyms:exact_synonym: CILD47;   Primary Ciliary Dyskinesia 47;   primary ciliary dyskinesia-47 and lissencephaly
 primary_id: OMIM:619466


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CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar		 PMID:25741868 PMID:34077761 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital nervous system abnormality 1489
        lissencephaly 115
          CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                complex cortical dysplasia with other brain malformations 1588
                  Malformations of Cortical Development, Group II 184
                    lissencephaly 115
                      CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY 1
paths to the root