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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 45
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Accession:DOID:0111857 term browser browse the term
Definition:A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in TTC12 on chromosome 11q23.2. (DO)
Synonyms:exact_synonym: CILD45;   primary ciliary dyskinesia 45 without situs inversus
 primary_id: OMIM:618801
For additional species annotation, visit the Alliance of Genome Resources.


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primary ciliary dyskinesia 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc12 tetratricopeptide repeat domain 12 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 45 OMIM
ClinVar
PMID:1978331 NCBI chr 8:53,770,685...53,818,873
Ensembl chr 8:53,770,681...53,816,447
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      Otorhinolaryngologic Diseases 1185
        Ciliary Motility Disorders 107
          primary ciliary dyskinesia 98
            primary ciliary dyskinesia 45 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        Congenital Abnormalities 4791
          Multiple Abnormalities 1729
            ciliopathy 224
              Ciliary Motility Disorders 107
                primary ciliary dyskinesia 98
                  primary ciliary dyskinesia 45 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.