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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 1
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Accession:DOID:0110594 term browser browse the term
Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. (DO)
Synonyms:exact_synonym: CILD1;   primary ciliary dyskinesia 1 with or without situs inversus
 broad_synonym: DNAI1-related condition
 xref: MIM:244400;   MONDO:0009484;   NCI:C128117


show annotations for term's descendants           Sort by:
primary ciliary dyskinesia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:100,034,202...100,135,179 		JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO
ISS 		OMIM:244400
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAI1-related condition 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:10577904 PMID:11231901 PMID:16858015 PMID:17576681 More... NCBI chr 5:61,526,079...61,596,806
Ensembl chr 5:61,525,999...61,596,810 		JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More... NCBI chr 1:105,530,196...105,557,358
Ensembl chr 1:105,531,085...105,558,023 		JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,343,261...9,361,988 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:25741868 PMID:28492532 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:31,307,113...31,323,368 		JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:117,098,984...117,103,386 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        Ciliary Motility Disorders 381
          primary ciliary dyskinesia 360
            primary ciliary dyskinesia 1 6
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            Otorhinolaryngologic Diseases 1809
              Ciliary Motility Disorders 381
                primary ciliary dyskinesia 360
                  primary ciliary dyskinesia 1 6
paths to the root