Human Phenotype
Ontology
Grandparent Node: Abnormal anterior chamber morphology (HP:0000593) Parent Node: Ocular anterior segment dysgenesis (HP:0007700) ..Starting node .. Peters anomaly (HP:0000659)
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: ..Axenfeld anomaly (HP:0001492) ..Rieger anomaly (HP:0000558) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0000659 HP:0000659 Peters anomaly 0 B3GLCT CL E G H 145173 20207 ORPHA:709 Peters plus syndrome HP:0040281 - Very frequent 36 HP:0000659 HP:0000659 Peters anomaly 0 B3GLCT CL E G H 145173 20207 OMIM:261540 Peters-Plus syndrome . 36 HP:0000659 HP:0000659 Peters anomaly 0 CDH2 CL E G H 1000 1759 OMIM:618929 AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS HP:0000659 HP:0000659 Peters anomaly 0 CENPF CL E G H 1063 1857 OMIM:243605 Stromme syndrome . 27 HP:0000659 HP:0000659 Peters anomaly 0 COX7B CL E G H 1349 2291 OMIM:309801 Microphthalmia, syndromic 7 6 HP:0000659 HP:0000659 Peters anomaly 0 CRPPA CL E G H 729920 37276 OMIM:614643 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 . HP:0000659 HP:0000659 Peters anomaly 0 CYP1B1 CL E G H 1545 2597 ORPHA:708 Peters anomaly HP:0040280 - Obligate 101 HP:0000659 HP:0000659 Peters anomaly 0 FKRP CL E G H 79147 17997 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 . 157 HP:0000659 HP:0000659 Peters anomaly 0 FKTN CL E G H 2218 3622 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 . 184 HP:0000659 HP:0000659 Peters anomaly 0 FOXC1 CL E G H 2296 3800 OMIM:601631 Anterior segment dysgenesis 3 . 63 HP:0000659 HP:0000659 Peters anomaly 0 FOXC1 CL E G H 2296 3800 ORPHA:250923 Isolated aniridia HP:0040282 - Frequent 63 HP:0000659 HP:0000659 Peters anomaly 0 FOXC1 CL E G H 2296 3800 ORPHA:708 Peters anomaly HP:0040280 - Obligate 63 HP:0000659 HP:0000659 Peters anomaly 0 FOXE3 CL E G H 2301 3808 OMIM:610256 Anterior segment dysgenesis 2 . 23 HP:0000659 HP:0000659 Peters anomaly 0 FOXE3 CL E G H 2301 3808 ORPHA:708 Peters anomaly HP:0040280 - Obligate 23 HP:0000659 HP:0000659 Peters anomaly 0 HCCS CL E G H 3052 4837 OMIM:309801 Microphthalmia, syndromic 7 11 HP:0000659 HP:0000659 Peters anomaly 0 LARGE1 CL E G H 9215 6511 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 . 136 HP:0000659 HP:0000659 Peters anomaly 0 MAF CL E G H 4094 6776 OMIM:610202 Cataract 21, multiple types 21 HP:0000659 HP:0000659 Peters anomaly 0 NCAPG2 CL E G H 54892 21904 OMIM:618460 Khan-Khan-Katsanis syndrome . 2 HP:0000659 HP:0000659 Peters anomaly 0 NDUFB11 CL E G H 54539 20372 OMIM:309801 Microphthalmia, syndromic 7 3 HP:0000659 HP:0000659 Peters anomaly 0 PAX6 CL E G H 5080 8620 OMIM:604229 Anterior segment dysgenesis 5, multiple subtypes . 194 HP:0000659 HP:0000659 Peters anomaly 0 PAX6 CL E G H 5080 8620 OMIM:120200 COLOBOMA, OCULAR, AUTOSOMAL DOMINANT 194 HP:0000659 HP:0000659 Peters anomaly 0 PAX6 CL E G H 5080 8620 ORPHA:250923 Isolated aniridia HP:0040282 - Frequent 194 HP:0000659 HP:0000659 Peters anomaly 0 PAX6 CL E G H 5080 8620 ORPHA:708 Peters anomaly HP:0040280 - Obligate 194 HP:0000659 HP:0000659 Peters anomaly 0 PITX2 CL E G H 5308 9005 ORPHA:708 Peters anomaly HP:0040280 - Obligate 51 HP:0000659 HP:0000659 Peters anomaly 0 PITX3 CL E G H 5309 9006 OMIM:107250 Anterior segment dysgenesis 1 . 6 HP:0000659 HP:0000659 Peters anomaly 0 POMT1 CL E G H 10585 9202 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 . 213 HP:0000659 HP:0000659 Peters anomaly 0 POMT2 CL E G H 29954 19743 OMIM:236670 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 . 221 HP:0000659 HP:0000659 Peters anomaly 0 POMT2 CL E G H 29954 19743 OMIM:613150 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 221 HP:0000659 HP:0000659 Peters anomaly 0 PRR12 CL E G H 57479 29217 OMIM:619539 NEUROOCULAR SYNDROME; NOC 1 HP:0000659 HP:0000659 Peters anomaly 0 RERE CL E G H 473 9965 OMIM:616975 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 16 HP:0000659 HP:0000659 Peters anomaly 0 RERE CL E G H 473 9965 ORPHA:494344 RERE-related neurodevelopmental syndrome HP:0040283 - Occasional 16 HP:0000659 HP:0000659 Peters anomaly 0 TRIM44 CL E G H 54765 19016 ORPHA:250923 Isolated aniridia HP:0040282 - Frequent 1 HP:0000659 HP:0000659 Peters anomaly 0 WDR37 CL E G H 22884 31406 OMIM:618652 NEUROOCULOCARDIOGENITOURINARY 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.