Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:aniridia
go back to main search page
Accession:DOID:12271 term browser browse the term
Definition:An iris disease that is characterized by a complete or partial absence of the colored part of the eye. (DO)
Synonyms:exact_synonym: AN;   absent iris;   aplasia of iris;   congenital aniridia;   irideremia
 narrow_synonym: CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY;   atypical aniridia
 primary_id: MESH:D015783
 xref: GARD:5816;   ICD10CM:Q13.1;   ICD9CM:743.45;   NCI:C84563;   OMIM:PS106210
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
aniridia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:231,997,360...232,117,471
Ensembl chr 2:231,996,088...232,117,134
JBrowse link
G Ank2 ankyrin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:231,224,643...231,522,655
Ensembl chr 2:231,226,949...231,648,122
JBrowse link
G Ap1ar adaptor-related protein complex 1 associated regulatory protein ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:232,146,418...232,178,813
Ensembl chr 2:232,147,690...232,178,671
JBrowse link
G Arsj arylsulfatase family, member J ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:230,163,014...230,662,084 JBrowse link
G Camk2d calcium/calmodulin-dependent protein kinase II delta ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:230,900,907...231,132,207
Ensembl chr 2:230,901,126...231,132,039
JBrowse link
G Dcdc5 doublecortin domain containing 5 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:97,207,500...97,435,067
Ensembl chr 3:97,256,881...97,433,651
JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:96,025,388...96,065,765
Ensembl chr 3:96,025,396...96,065,711
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Fam241a family with sequence similarity 241 member A ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:232,214,331...232,245,319
Ensembl chr 2:232,214,331...232,245,319
JBrowse link
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Glis3 GLIS family zinc finger 3 ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 1:246,380,816...246,564,385
Ensembl chr 1:246,380,889...246,785,360
JBrowse link
G Gmds GDP-mannose 4, 6-dehydratase ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr17:33,408,722...33,938,086
Ensembl chr17:33,408,722...33,938,085
JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 3:95,955,126...96,024,316
Ensembl chr 3:95,959,703...96,024,836
JBrowse link
G Kif21a kinesin family member 21A ISO ClinVar Annotator: match by term: Aniridia ClinVar PMID:26893459 NCBI chr 7:132,069,962...132,200,947
Ensembl chr 7:132,071,116...132,143,470
JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:231,866,888...231,882,002
Ensembl chr 2:231,867,135...231,881,939
JBrowse link
G Neurog2 neurogenin 2 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:231,962,517...231,963,441
Ensembl chr 2:231,962,517...231,963,308
JBrowse link
G Pax6 paired box 6 susceptibility ISO DNA:mutations:exon, intron:multiple (human)
CTD Direct Evidence: marker/mechanism
associated with Nystagmus, Congenital;DNA:insertion:exon:c.888insA(human)
ClinVar Annotator: match by term: Aniridia
ClinVar Annotator: match by OMIM:106210
ClinVar Annotator: match by term: Aniridia, atypical
DNA:frameshift mutation:cds:p.P418SfsX87 (human)
associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)
DNA:snps, nonsense mutation:introns, cds:IVS5a+1G>A, IVS8-1G>A, p.Q215X (mouse)
DNA:deletions:cds:c.170-174delTGGGC, c.475delC (human)
DNA:nonsense mutation:cds:p.R240X (human)
DNA:deletion:cds:p.Q297HfsX68 (human)
DNA:deletion:cds:p.R38PfsX12 (human)
DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)
CTD
ClinVar
PMID:9931324 PMID:17417613 PMID:18322702 PMID:18776953 PMID:25741868 PMID:30221735, PMID:9138149, PMID:25366758, PMID:22550392, PMID:22393272, PMID:16080917, PMID:16303964, PMID:19862335, PMID:22815628, PMID:22171157, PMID:20664694, PMID:23734086 RGD:1601209, RGD:12790966, RGD:8552301, RGD:8552277, RGD:8552246, RGD:8551879, RGD:8551870, RGD:8551860, RGD:8551859, RGD:8551858, RGD:8551856 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by term: Congenital aniridia ClinVar NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
JBrowse link
G Tifa TRAF-interacting protein with forkhead-associated domain ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:232,104,394...232,137,425
Ensembl chr 2:232,104,809...232,137,422
JBrowse link
G Trim44 tripartite motif-containing 44 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:91,968,781...92,242,138
Ensembl chr 3:92,183,556...92,242,318
JBrowse link
G Wt1 WT1 transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
G Zgrf1 zinc finger, GRF-type containing 1 ISO ClinVar Annotator: match by term: Aniridia ClinVar NCBI chr 2:231,881,893...231,944,760
Ensembl chr 2:231,884,337...231,940,877
JBrowse link
Aniridia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc5 doublecortin domain containing 5 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:97,207,500...97,435,067
Ensembl chr 3:97,256,881...97,433,651
JBrowse link
G Dnajc24 DnaJ heat shock protein family (Hsp40) member C24 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:96,025,388...96,065,765
Ensembl chr 3:96,025,396...96,065,711
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 PMID:17630404 PMID:18483559 PMID:24138039 PMID:24290376 PMID:25741868 PMID:26661695 PMID:27124303 PMID:27431685 PMID:28321846 PMID:28492532 PMID:29618921 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Immp1l inner mitochondrial membrane peptidase subunit 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:10737978 PMID:11284764 PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:95,955,126...96,024,316
Ensembl chr 3:95,959,703...96,024,836
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Aniridia 1
ClinVar Annotator: match by term: Cataracts, congenital, with late-onset corneal dystrophy
OMIM
ClinVar
PMID:1251879 PMID:1302030 PMID:1954207 PMID:6988567 PMID:7550230 PMID:7666404 PMID:7951315 PMID:8111279 PMID:8111379 PMID:8364574 PMID:8640214 PMID:8689689 PMID:9138149 PMID:9482572 PMID:9651515 PMID:9727514 PMID:9792406 PMID:9931324 PMID:10234503 PMID:10737978 PMID:10887930 PMID:11284764 PMID:11309364 PMID:11431688 PMID:11479730 PMID:11553050 PMID:11826019 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12731001 PMID:12868034 PMID:14561779 PMID:14744876 PMID:15086958 PMID:15579687 PMID:15846561 PMID:15889018 PMID:16098226 PMID:16493447 PMID:16712695 PMID:17148041 PMID:17406642 PMID:17417613 PMID:17568989 PMID:17595013 PMID:17630404 PMID:18241071 PMID:18483559 PMID:18776953 PMID:19218613 PMID:19862335 PMID:19876904 PMID:19898691 PMID:20054790 PMID:20577777 PMID:21397818 PMID:21423868 PMID:21848007 PMID:21850189 PMID:22171686 PMID:22361317 PMID:22509105 PMID:22692063 PMID:23734086 PMID:23761016 PMID:24138039 PMID:24390526 PMID:24737507 PMID:25678763 PMID:25741868 PMID:26535646 PMID:26661695 PMID:26694549 PMID:26849621 PMID:27081502 PMID:27124303 PMID:27307692 PMID:27431685 PMID:27455012 PMID:27463523 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29217025 PMID:29618921 PMID:29780932 PMID:32860008 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Rcn1 reticulocalbin 1 ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:17630404 PMID:24138039 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:95,404,863...95,419,110
Ensembl chr 3:95,406,284...95,418,679
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Aniridia 1 ClinVar PMID:8975729 PMID:9090524 PMID:17630404 PMID:23349334 PMID:24138039 PMID:25741868 PMID:26661695 PMID:27124303 PMID:28492532 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link
Aniridia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO OMIM NCBI chr 3:95,733,810...95,954,987 JBrowse link
Aniridia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim44 tripartite motif-containing 44 ISO ClinVar Annotator: match by term: ANIRIDIA 3 ClinVar
OMIM
PMID:26394807 NCBI chr 3:91,968,781...92,242,138
Ensembl chr 3:92,183,556...92,242,318
JBrowse link
Chromosome 11p Deletion Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: 11p deletion syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
Gillespie syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO ClinVar Annotator: match by term: Gillespie syndrome ClinVar
OMIM
PMID:7952360 PMID:10664581 PMID:17558851 PMID:24091540 PMID:25741868 PMID:25794864 PMID:27062503 PMID:27108797 PMID:27108798 PMID:27862915 PMID:28659154 PMID:28826917 PMID:29169895 PMID:29925855 PMID:32499604 NCBI chr 4:140,247,297...140,580,749
Ensembl chr 4:140,247,313...140,580,748
JBrowse link
WAGR syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:194072
ClinVar
CTD
PMID:9727514 PMID:12868034 PMID:15086958 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by OMIM:194072
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:15118671 RGD:1331525 NCBI chr 3:95,133,221...95,180,574
Ensembl chr 3:95,133,713...95,180,564
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    sensory system disease 5248
      eye disease 2673
        Eye Abnormalities 353
          aniridia 24
            Aniridia 1 7
            Aniridia 2 1
            Aniridia 3 1
            Aniridia and Absent Patella 0
            Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
            Gillespie syndrome 1
            Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 0
            WAGR syndrome + 3
            Walker Dyson Syndrome 0
            Zazam Sheriff Phillips Syndrome 0
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      nervous system disease 10977
        sensory system disease 5248
          eye disease 2673
            uveal disease 227
              iris disease 52
                aniridia 24
                  Aniridia 1 7
                  Aniridia 2 1
                  Aniridia 3 1
                  Aniridia and Absent Patella 0
                  Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract 0
                  Gillespie syndrome 1
                  Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation 0
                  WAGR syndrome + 3
                  Walker Dyson Syndrome 0
                  Zazam Sheriff Phillips Syndrome 0
paths to the root