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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:Axenfeld-Rieger syndrome type 1
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Accession:DOID:0110120 term browser browse the term
Definition:An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. (DO)
Synonyms:exact_synonym: RGS;   RIEG;   RIEG1;   Rieger syndrome type 1
 primary_id: OMIM:180500
 alt_id: RDO:0008146
For additional species annotation, visit the Alliance of Genome Resources.


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Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:152,195,359...152,198,813
Ensembl chr 5:152,195,361...152,198,813
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:180500
OMIM
ClinVar
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 PMID:11301317 PMID:11487566 PMID:12612071 PMID:14623826 PMID:14630904 PMID:15378534 PMID:15728254 PMID:15895993 PMID:16498627 PMID:18045789 PMID:18723525 PMID:19052653 PMID:20881294 PMID:22569110 PMID:25741868 PMID:26220699 PMID:28492532 PMID:29100920 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:96,659,062...96,810,816
Ensembl chr 4:96,659,084...96,812,263
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Axenfeld-Rieger syndrome 29
        Axenfeld-Rieger syndrome type 1 5
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              muscular disease 1186
                muscle tissue disease 809
                  atrophic muscular disease 316
                    muscular dystrophy 314
                      myotonic disease 20
                        myotonic dystrophy type 1 7
                          Axenfeld-Rieger syndrome type 1 5
paths to the root