Human Phenotype Ontology 
Grandparent Node:
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Abnormal anterior chamber morphology (HP:0000593)help
Parent Node:
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Ocular anterior segment dysgenesis (HP:0007700)help
..Starting node
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Peters anomaly (HP:0000659)help
Term ID: 659
Name: Peters anomaly
Synonym:
Definition: A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity.
Comments:
Reference: HP:0000659
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAxenfeld anomaly (HP:0001492) help
..expandRieger anomaly (HP:0000558) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000659HP:0000659Peters anomaly0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0000659HP:0000659Peters anomaly0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0000659HP:0000659Peters anomaly0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000659HP:0000659Peters anomaly0CENPF CL E G H10631857OMIM:243605Stromme syndrome.27
HP:0000659HP:0000659Peters anomaly0COX7B CL E G H13492291OMIM:309801Microphthalmia, syndromic 76
HP:0000659HP:0000659Peters anomaly0CRPPA CL E G H72992037276OMIM:614643Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7.
HP:0000659HP:0000659Peters anomaly0CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040280 - Obligate101
HP:0000659HP:0000659Peters anomaly0FKRP CL E G H7914717997OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.157
HP:0000659HP:0000659Peters anomaly0FKTN CL E G H22183622OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.184
HP:0000659HP:0000659Peters anomaly0FOXC1 CL E G H22963800OMIM:601631Anterior segment dysgenesis 3.63
HP:0000659HP:0000659Peters anomaly0FOXC1 CL E G H22963800ORPHA:250923Isolated aniridiaHP:0040282 - Frequent63
HP:0000659HP:0000659Peters anomaly0FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040280 - Obligate63
HP:0000659HP:0000659Peters anomaly0FOXE3 CL E G H23013808OMIM:610256Anterior segment dysgenesis 2.23
HP:0000659HP:0000659Peters anomaly0FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040280 - Obligate23
HP:0000659HP:0000659Peters anomaly0HCCS CL E G H30524837OMIM:309801Microphthalmia, syndromic 711
HP:0000659HP:0000659Peters anomaly0LARGE1 CL E G H92156511OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.136
HP:0000659HP:0000659Peters anomaly0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0000659HP:0000659Peters anomaly0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0000659HP:0000659Peters anomaly0NDUFB11 CL E G H5453920372OMIM:309801Microphthalmia, syndromic 73
HP:0000659HP:0000659Peters anomaly0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0000659HP:0000659Peters anomaly0PAX6 CL E G H50808620OMIM:120200COLOBOMA, OCULAR, AUTOSOMAL DOMINANT194
HP:0000659HP:0000659Peters anomaly0PAX6 CL E G H50808620ORPHA:250923Isolated aniridiaHP:0040282 - Frequent194
HP:0000659HP:0000659Peters anomaly0PAX6 CL E G H50808620ORPHA:708Peters anomalyHP:0040280 - Obligate194
HP:0000659HP:0000659Peters anomaly0PITX2 CL E G H53089005ORPHA:708Peters anomalyHP:0040280 - Obligate51
HP:0000659HP:0000659Peters anomaly0PITX3 CL E G H53099006OMIM:107250Anterior segment dysgenesis 1.6
HP:0000659HP:0000659Peters anomaly0POMT1 CL E G H105859202OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.213
HP:0000659HP:0000659Peters anomaly0POMT2 CL E G H2995419743OMIM:236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1.221
HP:0000659HP:0000659Peters anomaly0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2221
HP:0000659HP:0000659Peters anomaly0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000659HP:0000659Peters anomaly0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000659HP:0000659Peters anomaly0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000659HP:0000659Peters anomaly0TRIM44 CL E G H5476519016ORPHA:250923Isolated aniridiaHP:0040282 - Frequent1
HP:0000659HP:0000659Peters anomaly0WDR37 CL E G H2288431406OMIM:618652NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS


Genes (24) :B3GLCT CDH2 CENPF COX7B CRPPA CYP1B1 FKRP FKTN FOXC1 FOXE3 HCCS LARGE1 MAF NCAPG2 NDUFB11 PAX6 PITX2 PITX3 POMT1 POMT2 PRR12 RERE TRIM44 WDR37

Diseases (21) :ORPHA:709 OMIM:261540 OMIM:618929 OMIM:243605 OMIM:309801 OMIM:614643 ORPHA:708 OMIM:236670 OMIM:601631 ORPHA:250923 OMIM:610256 OMIM:610202 OMIM:618460 OMIM:604229 OMIM:120200 OMIM:107250 OMIM:613150 OMIM:619539 OMIM:616975 ORPHA:494344 OMIM:618652
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.