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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 the TTC12 gene on chromosome 11q23.2. (DO)
Synonyms:exact_synonym: CILD45;   TTC12-RELATED CONDITION;   primary ciliary dyskinesia 45 without situs inversus
 primary_id: MIM:618801


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primary ciliary dyskinesia 45 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnah6 dynein, axonemal, heavy chain 6 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 ClinVar PMID:25741868 NCBI chr 4:106,622,235...106,842,461
Ensembl chr 4:105,064,125...105,284,376 		JBrowse link
G Ttc12 tetratricopeptide repeat domain 12 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45 | ClinVar Annotator: match by term: TTC12-related condition OMIM
ClinVar		 PMID:1978331 PMID:25741868 NCBI chr 8:58,696,381...58,743,857
Ensembl chr 8:49,799,920...49,847,087 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      respiratory system disease 5245
        Ciliary Motility Disorders 376
          primary ciliary dyskinesia 355
            primary ciliary dyskinesia 45 2
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            Otorhinolaryngologic Diseases 1799
              Ciliary Motility Disorders 376
                primary ciliary dyskinesia 355
                  primary ciliary dyskinesia 45 2
paths to the root