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
Accession: DOID:0060673
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
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Arhgap35
Rho GTPase activating protein 35
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:25741868 PMID:36450800
NCBI chr 1:77,202,436...77,319,298
Ensembl chr 1:77,202,436...77,319,298
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Bmp4
bone morphogenetic protein 4
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:25741868
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Col4a1
collagen type IV alpha 1 chain
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 PMID:19344236 PMID:25741868 PMID:28492532 More...
NCBI chr16:78,183,533...78,294,412
Ensembl chr16:78,183,533...78,294,412
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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 RGD
PMID:9097971 PMID:9497261 PMID:10655546 PMID:11403040 PMID:11527932 PMID:11558822 PMID:11774072 PMID:11854439 PMID:11980847 PMID:12036985 PMID:12525557 PMID:14507861 PMID:15037581 PMID:15342693 PMID:16688110 PMID:16735991 PMID:16735994 PMID:16862072 PMID:17363580 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18470941 PMID:18622259 PMID:18852424 PMID:19204079 PMID:19234632 PMID:19236111 PMID:19536304 PMID:19643970 PMID:19744731 PMID:19793111 PMID:20151268 PMID:20198978 PMID:20664688 PMID:21081970 PMID:21168818 PMID:21572728 PMID:21815720 PMID:21850185 PMID:21854771 PMID:22004014 PMID:22128238 PMID:23028769 PMID:23218183 PMID:23218701 PMID:23922489 PMID:24033266 PMID:24123366 PMID:24227805 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25527694 PMID:25580891 PMID:25646030 PMID:25741868 PMID:25950505 PMID:25978063 PMID:26550445 PMID:26997785 PMID:27060699 PMID:27243976 PMID:27270415 PMID:27272408 PMID:27408750 PMID:27508083 PMID:27535533 PMID:27777502 PMID:27820421 PMID:28384041 PMID:28448622 PMID:28492532 PMID:28620713 PMID:29142762 PMID:29556725 PMID:30108387 PMID:30484747 PMID:30520782 PMID:30653986 PMID:30788381 PMID:32476818 PMID:32499604 PMID:32510024 PMID:32832252 PMID:32883240 PMID:34956319 PMID:36239105 PMID:38219857 PMID:15621878 More...
RGD:7800682
NCBI chr 6:15,342,312...15,350,886
Ensembl chr 6:15,342,344...15,350,917
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Dab1
DAB adaptor protein 1
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459
NCBI chr 5:118,392,953...119,513,625
Ensembl chr 5:119,140,533...119,510,552
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Elp4
elongator acetyltransferase complex subunit 4
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:8364574 PMID:10234503 PMID:22361317 PMID:25741868 PMID:28492532
NCBI chr 3:92,162,271...92,385,251
Ensembl chr 3:92,162,280...92,385,243
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Ephb2
Eph receptor B2
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459
NCBI chr 5:148,889,574...149,077,027
Ensembl chr 5:148,897,246...149,077,059
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Fat1
FAT atypical cadherin 1
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459 PMID:28492532
NCBI chr16:47,177,253...47,296,261
Ensembl chr16:47,177,248...47,296,107
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459 PMID:28492532
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Frem1
Fras1 related extracellular matrix 1
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:21931569 PMID:26893459 PMID:28492532
NCBI chr 5:97,321,266...97,469,523
Ensembl chr 5:97,322,538...97,469,543
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Pax6
paired box 6
ISO ISS
DNA:snp:cds:pN64K (mouse) ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis OMIM:604229 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:8364574 PMID:9727514 PMID:9792406 PMID:10234503 PMID:12015275 PMID:12552561 PMID:12634864 PMID:12721955 PMID:12868034 PMID:15086958 PMID:15579687 PMID:16199547 PMID:17417613 PMID:18483559 PMID:18776953 PMID:20577777 PMID:22361317 PMID:22692063 PMID:24281366 PMID:25741868 PMID:26604670 PMID:26661695 PMID:27878435 PMID:28321846 PMID:28488383 PMID:28492532 PMID:29145603 PMID:29914532 PMID:31700164 PMID:32360764 PMID:32499604 PMID:34101622 PMID:34415986 PMID:19345209 More...
RGD:8551891
NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014
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Pitrm1
pitrilysin metallopeptidase 1
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459 PMID:28492532
NCBI chr17:63,795,670...63,827,317
Ensembl chr17:63,795,671...63,839,907
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Pitx2
paired-like homeodomain 2
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:15378534 PMID:25741868 PMID:26220699 PMID:28492532
NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
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Prpf8
pre-mRNA processing factor 8
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459
NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
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Ptch1
patched 1
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:1347096 PMID:26467025 PMID:26893459 PMID:28492532 PMID:30762128 PMID:35170016 More...
NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333
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Rarg
retinoic acid receptor, gamma
ISO
ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis
ClinVar
PMID:26893459
NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177
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B3glct
beta 3-glucosyltransferase
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Peters plus syndrome OMIM:261540
OMIM CTD ClinVar MouseDO
PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 PMID:18798333 PMID:19796186 PMID:20301637 PMID:23161355 PMID:23213277 PMID:23889335 PMID:25741868 PMID:26684045 PMID:28492532 PMID:32204707 More...
NCBI chr12:5,255,521...5,346,807
Ensembl chr12:5,255,740...5,346,810
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Fgf8
fibroblast growth factor 8
ISO
ClinVar Annotator: match by term: Peters plus syndrome
ClinVar
PMID:25741868 PMID:28492532 PMID:29584859
NCBI chr 1:244,584,477...244,590,578
Ensembl chr 1:244,584,652...244,590,359
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