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ONTOLOGY REPORT - ANNOTATIONS


Term:Peters anomaly
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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:exact_synonym: ASGD5;   anterior segment dysgenesis 5;   anterior segment dysgenesis 5, Peters anomaly subtype;   anterior segment dysgenesis 5, multiple subtypes;   anterior segment dysgenesis 5, multiple types
 narrow_synonym: irido-corneo-trabecular dysgenesis
 primary_id: MESH:C537884
 alt_id: OMIM:604229;   RDO:0003796;   RDO:9001344
 xref: GARD:7377;   ORDO:708
For additional species annotation, visit the Alliance of Genome Resources.


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Peters anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 JBrowse link 6 2,308,179 2,316,739 RGD:7800682
RGD:8554872
G Dab1 DAB adaptor protein 1 JBrowse link 5 123,154,360 124,279,170 RGD:8554872
G Elp4 elongator acetyltransferase complex subunit 4 JBrowse link 3 95,733,810 95,954,987 RGD:8554872
G Ephb2 Eph receptor B2 JBrowse link 5 155,024,478 155,143,539 RGD:8554872
G Fat1 FAT atypical cadherin 1 JBrowse link 16 50,372,150 50,501,716 RGD:8554872
G Fat4 FAT atypical cadherin 4 JBrowse link 2 125,751,818 125,879,398 RGD:8554872
G Frem1 Fras1 related extracellular matrix 1 JBrowse link 5 101,018,009 101,166,794 RGD:8554872
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:8551891
RGD:8554872
RGD:7240710
G Pitrm1 pitrilysin metallopeptidase 1 JBrowse link 17 68,477,423 68,509,113 RGD:8554872
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:8554872
G Prpf8 pre-mRNA processing factor 8 JBrowse link 10 63,635,239 63,658,360 RGD:8554872
G Ptch1 patched 1 JBrowse link 17 1,032,242 1,085,885 RGD:8554872
G Rarg retinoic acid receptor, gamma JBrowse link 7 143,840,739 143,863,206 RGD:8554872
G Rmdn2 regulator of microtubule dynamics 2 JBrowse link 6 2,215,062 2,292,288 RGD:8554872
Peters plus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3glct beta 3-glucosyltransferase JBrowse link 12 6,403,118 6,476,010 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    sensory system disease 4685
      eye and adnexa disease 2253
        eye disease 2253
          Eye Abnormalities 279
            anterior segment dysgenesis 23
              Peters anomaly 15
                Peters plus syndrome 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        sensory system disease 4685
          eye and adnexa disease 2253
            eye disease 2253
              corneal disease 172
                sclerocornea 23
                  anterior segment dysgenesis 23
                    Peters anomaly 15
                      Peters plus syndrome 1
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.