ONTOLOGY REPORT - ANNOTATIONS


Term:primary ciliary dyskinesia 15
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Accession:DOID:0110623 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. (DO)
Synonyms:exact_synonym: CILD15;   CILIARY DYSKINESIA, PRIMARY, 15, WITH OR WITHOUT SITUS INVERSUS
 primary_id: OMIM:613808;   RDO:9000233
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primary ciliary dyskinesia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:7240710
RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    syndrome 4715
      ciliopathy 193
        Ciliary Motility Disorders 93
          primary ciliary dyskinesia 15 2
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        Congenital Abnormalities 3200
          Multiple Abnormalities 1280
            ciliopathy 193
              Ciliary Motility Disorders 93
                primary ciliary dyskinesia 82
                  primary ciliary dyskinesia 15 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.