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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.


show annotations for term's descendants           Sort by:
 
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 chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr 6:93,740,440...93,751,003
Ensembl chr 6:93,740,586...93,749,809
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)
ClinVar Annotator: match by term: Axenfeld anomaly
ClinVar PMID:30311386, PMID:15477465, PMID:12614756, PMID:18498376 RGD:12904042, RGD:12904044, RGD:12904045 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459 NCBI chr14:14,438,392...14,853,016
Ensembl chr14:14,439,082...14,689,554
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 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
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 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Rieger anomaly ClinVar PMID:26893459, PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
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 chr17:33,947,501...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: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
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 chr20:11,972,352...12,101,022
Ensembl chr20:11,972,381...12,101,047
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISS OMIM:602482 MouseDO NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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 chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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 chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
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 chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
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 chr20:13,044,056...13,127,971
Ensembl chr20:13,044,104...13,127,487
JBrowse link
G Fam207a family with sequence similarity 207, member A ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889, PMID:21681106 NCBI chr20:11,863,145...11,896,833
Ensembl chr20:11,863,082...11,896,774
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, PMID:11589884, PMID:11740218, PMID:11782474, PMID:12592227, PMID:12614756, PMID:14506133, PMID:16638984, PMID:16936096, PMID:17197537, PMID:17210863, PMID:18498376, PMID:19668217, PMID:19793056, PMID:20881294, PMID:22382802, PMID:23239455, PMID:24914578, PMID:25741868, PMID:25786029, PMID:25967385, PMID:27124303, PMID:28432732, PMID:28492532, PMID:28513611, PMID:28979898, PMID:30457409 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889, PMID:21681106 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link
G LOC108348157 speriolin-like protein ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889, PMID:21681106 NCBI chr20:13,164,610...13,173,791
Ensembl chr20:13,164,628...13,173,774
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889, PMID:21681106 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
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 chr20:12,879,304...12,917,069
Ensembl chr20:12,879,278...12,917,039
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 chr20:12,429,255...12,629,985
Ensembl chr20:12,429,315...12,629,981
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889, PMID:21681106 NCBI chr20:12,943,523...13,038,615
Ensembl chr20:12,944,786...13,038,431
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 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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 chr20:12,117,811...12,128,747
Ensembl chr20:12,117,811...12,128,747
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 chr20:13,154,513...13,212,613
Ensembl chr20:13,156,241...13,212,606
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 chr20:12,927,310...12,938,891
Ensembl chr20:12,927,320...12,938,891
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 chr20:13,130,633...13,142,856
Ensembl chr20:13,130,636...13,142,856
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 chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3 ClinVar PMID:11170889, PMID:21681106 NCBI chr20:12,917,111...12,926,587
Ensembl chr20:12,917,111...12,926,587
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.