ONTOLOGY REPORT - ANNOTATIONS


Term:aniridia
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Accession:DOID:12271 term browser browse the term
Definition:A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.
Synonyms:exact_synonym: AN;   Aplasia of iris;   absent iris;   congenital aniridia;   irideremia
 narrow_synonym: CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY;   atypical aniridia
 primary_id: MESH:D015783
 alt_id: RDO:0001933
 xref: GARD:5816;   OMIM:PS106210
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aniridia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alpk1 alpha-kinase 1 JBrowse link 2 231,997,360 232,117,471 RGD:8554872
G Ank2 ankyrin 2 JBrowse link 2 231,224,643 231,522,655 RGD:8554872
G Ap1ar adaptor-related protein complex 1 associated regulatory protein JBrowse link 2 232,146,418 232,178,813 RGD:8554872
G Arsj arylsulfatase family, member J JBrowse link 2 230,163,014 230,662,084 RGD:8554872
G Camk2d calcium/calmodulin-dependent protein kinase II delta JBrowse link 2 230,900,907 231,132,207 RGD:8554872
G Dcdc5 doublecortin domain containing 5 JBrowse link 3 97,207,500 97,435,067 RGD:8554872
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 JBrowse link 3 96,025,388 96,065,765 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
RGD:11554173
G Fam241a family with sequence similarity 241 member A JBrowse link 2 232,214,331 232,245,319 RGD:8554872
G Foxc1 forkhead box C1 JBrowse link 17 33,947,501 33,951,484 RGD:8554872
G Glis3 GLIS family zinc finger 3 JBrowse link 1 246,380,816 246,564,385 RGD:8554872
G Gmds GDP-mannose 4, 6-dehydratase JBrowse link 17 33,408,722 33,938,086 RGD:8554872
G Immp1l inner mitochondrial membrane peptidase subunit 1 JBrowse link 3 95,955,126 96,024,316 RGD:8554872
G Kif21a kinesin family member 21A JBrowse link 7 132,069,962 132,200,947 RGD:8554872
G Larp7 La ribonucleoprotein domain family, member 7 JBrowse link 2 231,866,888 231,882,002 RGD:8554872
G Neurog2 neurogenin 2 JBrowse link 2 231,962,517 231,963,441 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:1601209
RGD:8554872
RGD:12790966
RGD:11554173
RGD:8552301
RGD:8552277
RGD:8552246
RGD:8551879
RGD:8551870
RGD:8551860
RGD:8551859
RGD:8551858
RGD:8551856
G Tifa TRAF-interacting protein with forkhead-associated domain JBrowse link 2 232,104,394 232,137,425 RGD:8554872
G Trim44 tripartite motif-containing 44 JBrowse link 3 91,968,781 92,242,138 RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:11554173
G Zgrf1 zinc finger, GRF-type containing 1 JBrowse link 2 231,881,893 231,944,760 RGD:8554872
Aniridia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dcdc5 doublecortin domain containing 5 JBrowse link 3 97,207,500 97,435,067 RGD:8554872
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 JBrowse link 3 96,025,388 96,065,765 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Immp1l inner mitochondrial membrane peptidase subunit 1 JBrowse link 3 95,955,126 96,024,316 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:7240710
RGD:8554872
G Rcn1 reticulocalbin 1 JBrowse link 3 95,404,863 95,419,110 RGD:8554872
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:8554872
Aniridia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:7240710
Aniridia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trim44 tripartite motif-containing 44 JBrowse link 3 91,968,781 92,242,138 RGD:8554872
RGD:7240710
Gillespie Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 JBrowse link 4 140,247,297 140,580,749 RGD:8554872
RGD:7240710
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
WAGR syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8554872
RGD:11554173
G Wt1 WT1 transcription factor JBrowse link 3 95,133,221 95,180,574 RGD:1331525
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    sensory system disease 4244
      eye and adnexa disease 1985
        eye disease 1985
          Eye Abnormalities 283
            aniridia 23
              Aniridia 1 7
              Aniridia 2 1
              Aniridia 3 1
              Aniridia and Absent Patella 0
              Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
              Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 0
              Gillespie Syndrome 2
              WAGR syndrome + 2
              Walker Dyson Syndrome 0
              Zazam Sheriff Phillips Syndrome 0
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          eye and adnexa disease 1985
            eye disease 1985
              uveal disease 216
                iris disease 51
                  aniridia 23
                    Aniridia 1 7
                    Aniridia 2 1
                    Aniridia 3 1
                    Aniridia and Absent Patella 0
                    Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
                    Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation 0
                    Gillespie Syndrome 2
                    WAGR syndrome + 2
                    Walker Dyson Syndrome 0
                    Zazam Sheriff Phillips Syndrome 0
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.