Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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:Peters anomaly
go back to main search page
Accession:DOID:0060673 term browser browse the term
Definition:A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. (DO)
Synonyms:narrow_synonym: irido-corneo-trabecular dysgenesis
 primary_id: MESH:C537884
 xref: GARD:7377;   ICD10CM:Q13.4;   ORDO:708
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Peters anomaly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO DNA:snp:cds:p.G61E (human)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar Annotator: match by term: Peters anomaly
ClinVar PMID:9497261, PMID:10655546, PMID:11403040, PMID:11558822, PMID:11774072, PMID:11854439, PMID:11980847, PMID:12036985, PMID:14507861, PMID:15037581, PMID:15255109, PMID:15342693, PMID:16688110, PMID:16735991, PMID:16735994, PMID:16862072, PMID:17363580, PMID:17563717, PMID:17591938, PMID:17718864, PMID:18470941, PMID:18537981, PMID:18622259, PMID:18852424, PMID:19234632, PMID:19536304, PMID:19597567, PMID:19643970, PMID:19744731, PMID:19793111, PMID:20198978, PMID:20664688, PMID:21081970, PMID:21168818, PMID:21815720, PMID:21850185, PMID:21854771, PMID:22004014, PMID:22128238, PMID:23028769, PMID:23218183, PMID:23218701, PMID:23922489, PMID:24033266, PMID:24281366, PMID:25091052, PMID:25527694, PMID:25646030, PMID:25741868, PMID:25950505, PMID:25978063, PMID:27060699, PMID:27243976, PMID:27272408, PMID:27408750, PMID:27508083, PMID:27535533, PMID:27820421, PMID:28384041, PMID:28448622, PMID:28492532, PMID:28620713, PMID:29556725, PMID:30311386, PMID:32499604, PMID:15621878 RGD:7800682 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Dab1 DAB adaptor protein 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 5:123,154,360...124,279,170
Ensembl chr 5:123,905,166...124,280,115
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Ephb2 Eph receptor B2 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 5:155,024,478...155,143,539
Ensembl chr 5:155,022,493...155,204,456
JBrowse link
G Fat1 FAT atypical cadherin 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr16:50,372,150...50,501,716
Ensembl chr16:50,372,128...50,501,921
JBrowse link
G Fat4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 2:125,751,818...125,879,398
Ensembl chr 2:125,752,130...125,879,387
JBrowse link
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Peters anomaly 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 Pax6 paired box 6 ISO DNA:snp:cds:pN64K (mouse)
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peters anomaly
ClinVar
CTD
PMID:24281366, PMID:28492532, PMID:32499604, PMID:19345209 RGD:8551891 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pitrm1 pitrilysin metallopeptidase 1 ISO ClinVar Annotator: match by term: Peters anomaly
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar PMID:26893459 NCBI chr17:68,477,423...68,509,113
Ensembl chr17:68,477,446...68,509,120
JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Peters anomaly
ClinVar Annotator: match by term: Irido-corneo-trabecular 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 Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:1347096, PMID:26893459, PMID:28492532 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Rarg retinoic acid receptor, gamma ISO ClinVar Annotator: match by term: Peters anomaly ClinVar PMID:26893459 NCBI chr 7:143,840,739...143,863,206
Ensembl chr 7:143,839,980...143,863,186
JBrowse link
G Rmdn2 regulator of microtubule dynamics 2 ISO ClinVar Annotator: match by term: Peters anomaly ClinVar NCBI chr 6:2,215,062...2,292,288
Ensembl chr 6:2,216,623...2,280,777
JBrowse link
Peters plus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by OMIM:261540
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peters plus syndrome
OMIM
ClinVar
CTD
PMID:16909395, PMID:18199743, PMID:18798333, PMID:19796186, PMID:20301637, PMID:23161355, PMID:23213277, PMID:23889335, PMID:25741868, PMID:26684045, PMID:28492532, PMID:30311386 NCBI chr12:6,403,118...6,476,010
Ensembl chr12:6,403,940...6,473,321
JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868, PMID:29584859 NCBI chr 1:265,492,949...265,498,965
Ensembl chr 1:265,493,124...265,498,831
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        corneal disease 184
          Corneal Opacity 32
            Peters anomaly 16
              Peters plus syndrome 2
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                anterior segment dysgenesis 29
                  anterior segment dysgenesis 5 16
                    Peters anomaly 16
                      Peters plus syndrome 2
paths to the root

NHLBI Logo

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