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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
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Accession:DOID:14686 term browser browse the term
Definition:An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. (DO)
Synonyms:exact_synonym: Axenfeld anomaly;   Axenfeld syndrome;   Axenfeld-Rieger anomaly;   Axenfeld-Rieger anomaly with or without cardiac defects and-or sensorineural hearing loss;   RGS - Rieger syndrome;   Rieger anomaly;   Rieger syndrome;   Rieger's anomaly;   iridogoniodysgenesis with somatic anomalies
 related_synonym: Hagedoom syndrome
 primary_id: MESH:C535679
 xref: GARD:5701;   ICD10CM:Q13.81;   NCI:C131001;   OMIM:PS180500;   ORDO:782
For additional species annotation, visit the Alliance of Genome Resources.


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Axenfeld-Rieger syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a1 collagen type IV alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17696175 PMID:20385946 NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
JBrowse link
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr 6:89,790,676...89,818,254
Ensembl chr 6:89,790,644...89,817,906
JBrowse link
G Foxc1 forkhead box C1 ISO DNA:mutation:cds:272T>C,p.I91T(human)
DNA:mutation:cds:p.F112S(human)
DNA:mutation:cds:p.Q120X(human)
RGD PMID:15477465 PMID:12614756 PMID:18498376 RGD:12904042, RGD:12904044, RGD:12904045 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Iridogoniodysgenesis with somatic anomalies ClinVar PMID:21931569 PMID:26893459 NCBI chr 5:97,321,275...97,469,523
Ensembl chr 5:97,322,538...97,469,543
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger Syndrome
ClinVar Annotator: match by term: Rieger syndrome
DNA:missense mutation: :p.G137V (g.20913G>T) (human)
DNA:point mutation:exon:p.W86C (c.840G>T) (human)
ClinVar PMID:25741868 PMID:16876867 PMID:19052653 RGD:12910560, RGD:12910558 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
JBrowse link
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 chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301
JBrowse link
Axenfeld-Rieger syndrome type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISS OMIM:602482 MouseDO NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Dip2a disco-interacting protein 2 homolog A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,284,566...12,371,068
Ensembl chr20:12,284,654...12,370,217
JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3
ClinVar Annotator: match by OMIM:602482
OMIM
ClinVar
PMID:9326342 PMID:9620769 PMID:9792859 PMID:10713890 PMID:11170889 More... NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment mesenchymal dysgenesis ClinVar PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
JBrowse link
G Prmt2 protein arginine methyltransferase 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,394,748...12,420,643
Ensembl chr20:12,394,798...12,420,643
JBrowse link
G RGD1564149 similar to Protein C21orf58 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017
JBrowse link
G S100b S100 calcium binding protein B ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,372,866...12,381,619
Ensembl chr20:12,372,881...12,394,743
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889 PMID:21681106 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Axenfeld-Rieger syndrome 29
        Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 0
        Axenfeld-Rieger syndrome type 1 5
        Axenfeld-Rieger syndrome type 2 0
        Axenfeld-Rieger syndrome type 3 21
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal dominant disease 4460
                Axenfeld-Rieger syndrome 29
                  Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 0
                  Axenfeld-Rieger syndrome type 1 5
                  Axenfeld-Rieger syndrome type 2 0
                  Axenfeld-Rieger syndrome type 3 21
paths to the root