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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 3
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Accession:DOID:0110599 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. (DO)
Synonyms:exact_synonym: CILD3;   DNAH5-RELATED CONDITION;   primary ciliary dyskinesia 3, with or without situs inversus
 primary_id: MESH:C535278
 alt_id: OMIM:608644
 xref: ICD10CM:Q34.8;   NCI:C172392



show annotations for term's descendants           Sort by:
primary ciliary dyskinesia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bach2 BTB domain and CNC homolog 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar PMID:28492532 NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:608644
ClinVar Annotator: match by term: DNAH5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
OMIM
CTD
MouseDO
ClinVar
PMID:2127064 PMID:2389146 PMID:9536098 PMID:11062149 PMID:11788826 More... NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Gas2l2 growth arrest-specific 2 like 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601
JBrowse link
G Mpeg1 macrophage expressed 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 1:209,452,176...209,456,692
Ensembl chr 1:209,452,133...209,458,855
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 ClinVar NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      respiratory system disease 3603
        Ciliary Motility Disorders 369
          primary ciliary dyskinesia 353
            primary ciliary dyskinesia 3 8
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        Neurologic Manifestations 10017
          sensory system disease 6930
            Otorhinolaryngologic Diseases 1723
              Ciliary Motility Disorders 369
                primary ciliary dyskinesia 353
                  primary ciliary dyskinesia 3 8
paths to the root