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ONTOLOGY REPORT - ANNOTATIONS


Term:Axenfeld-Rieger syndrome
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Accession:DOID:14686 term browser browse the term
Definition:An autosomal dominant 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
 alt_id: RDO:0000934
 xref: GARD:5701;   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 JBrowse Chr Start Stop Reference
G Dact1 dishevelled-binding antagonist of beta-catenin 1 JBrowse link 6 93,740,440 93,751,003 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8554872
RGD:12904042
RGD:12904044
RGD:12904045
G Fras1 Fraser extracellular matrix complex subunit 1 JBrowse link 14 14,438,392 14,853,016 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
RGD:12910560
RGD:12910558
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Axenfeld-Rieger syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adarb1 adenosine deaminase, RNA-specific, B1 JBrowse link 20 11,972,352 12,101,022 RGD:8554872
G Bmp4 bone morphogenetic protein 4 JBrowse link 15 20,776,060 20,791,013 RGD:13592920
G Col18a1 collagen type XVIII alpha 1 chain JBrowse link 20 12,225,202 12,332,858 RGD:8554872
G Col6a1 collagen type VI alpha 1 chain JBrowse link 20 12,657,913 12,676,370 RGD:8554872
G Col6a2 collagen type VI alpha 2 chain JBrowse link 20 12,773,472 12,801,179 RGD:8554872
G Dip2a disco-interacting protein 2 homolog A JBrowse link 20 13,044,056 13,127,971 RGD:8554872
G Fam207a family with sequence similarity 207, member A JBrowse link 20 11,863,145 11,896,833 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:7240710
RGD:8554872
G Foxe3 forkhead box E3 JBrowse link 5 133,724,796 133,725,656 RGD:8554872
G Ftcd formimidoyltransferase cyclodeaminase JBrowse link 20 12,806,957 12,820,466 RGD:8554872
G LOC108348157 speriolin-like protein JBrowse link 20 13,164,610 13,173,791 RGD:8554872
G Lss lanosterol synthase JBrowse link 20 12,844,522 12,870,474 RGD:8554872
G Mcm3ap minichromosome maintenance complex component 3 associated protein JBrowse link 20 12,879,304 12,917,069 RGD:8554872
G Pcbp3 poly(rC) binding protein 3 JBrowse link 20 12,429,255 12,629,985 RGD:8554872
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Pitx3 paired-like homeodomain 3 JBrowse link 1 265,886,766 265,899,947 RGD:8554872
G Pofut2 protein O-fucosyltransferase 2 JBrowse link 20 12,117,811 12,128,747 RGD:8554872
G Prmt2 protein arginine methyltransferase 2 JBrowse link 20 13,154,513 13,212,613 RGD:8554872
G RGD1564149 similar to Protein C21orf58 JBrowse link 20 12,927,310 12,938,891 RGD:8554872
G S100b S100 calcium binding protein B JBrowse link 20 13,130,633 13,142,856 RGD:8554872
G Slc19a1 solute carrier family 19 member 1 JBrowse link 20 12,334,675 12,354,517 RGD:8554872
G Ybey ybeY metalloendoribonuclease JBrowse link 20 12,917,111 12,926,587 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Axenfeld-Rieger syndrome 30
        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 23
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                Axenfeld-Rieger syndrome 30
                  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 23
paths to the root