{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0011414/OMIM:604229","label":"Anterior segment dysgenesis 5, multiple subtypes","mondoId":"MONDO:0011414","onsetQualifier":null,"recordKeys":["0a9c950db9719f84894029e8c6027c6de7048ab425570e3b9055522a59b83e5d","34b06e2e028e25cd10b8017241efe59ca167233ecda60b7bc773c50bb46b866c","37dd87d1c0d0411f3df8a3df0d4d3c7072115ee0585dd5eb9991a04fb4cbc78d","713b99fdeafef35f47665dbb47507844bbf068b21e6e81a1bc5fe26c6e979571","7fcbd8d6c01f16cde94ffd5103ca0de5090499033bfadfe62824c4abd80b7ce8","867e74dd98a249a62f90073f15b3909752cb354d3b1d06337fc3d275583b2d03","8bbb174643fdff750045f5f40aeed8f6e875b17d9716a8957c5cf48d5d48273b","907bfd1de255120ec1e8719f85479a7fc8dcfcbdd07cd8141229909555bcdc54","91a378eb62ee2ebb9e81b3a1eb271657f2c29a7cb6ead811cf52bd6a1cb41a55","adda572591c3fe8f4bca3e971693e712815db64e228e90a1820df68d51394512","b02f87698dd4103c627f8fa49e5a4cf306476a268aac8e8527a53c6ea662c7aa","c6178d6ca85bc74788e4b88620cd83e5be571188c4468d935c4767f9eed90f35","f411e28024a89ca8f8354c97c4e0bd2c48d72c04915dc5ac098d9185fb7d379d","f8900d700fa438cec75f933f1377ee62ccea1c73e37bd31ea7f9be44c5e28f9b"],"recordQualifiers":{},"scopeLabel":"OMIM:604229","sourceIds":["OMIM:604229"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0011414/ORPHA:708","label":"Peters anomaly","mondoId":"MONDO:0011414","onsetQualifier":null,"recordKeys":["0b82c3d549ffa51c196e3721afd07bef6751cd1dd9782ba731a4f5528bc49c0a","26dd4e74808319886498fd2d933ce56b3ee3e6fa2e284efe684ca0530314c63e","301d4d7f8a2cee256304a56c2183bba3b5ed37dd28450d26425d3baa6f68b408","310a142321ecb2eedbd766daeaab1e88b4fc6b6c48661982ca1b76efaeea88f7","34f5e17cac847f1329bdecc72734e14fc329a3d1a5b5fa09d3ac80f305adcd1c","7b2083eea20228caf52740dde49ced32f50f016a77fbc37ff12644a08b59cd14","81f30c0d3cd14a887ab093795771b901c3bc13d173adf05f4c0810c1099b9e4e","95838e3d9e5034605a6592956517f578aa250038843ea0bd8263930385c5be78","b97b443a6a5a9b8c551a108e9b5b7010ee336daf746e866d1dfd4d28a00ee609"],"recordQualifiers":{},"scopeLabel":"ORPHA:708","sourceIds":["ORPHA:708"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0011414/OMIM:604229","MONDO:0011414/ORPHA:708"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":23,"sourceGroups":{"omim":14,"orphanet":9,"published":0}},"features":[{"hpoId":"HP:0011483","label":"Anterior synechiae of the anterior chamber","primary":false},{"hpoId":"HP:0011493","label":"Central opacification of the cornea","primary":false},{"hpoId":"HP:0000519","label":"Developmental cataract","primary":false},{"hpoId":"HP:0001087","label":"Developmental glaucoma","primary":false},{"hpoId":"HP:0000501","label":"Glaucoma","primary":false},{"hpoId":"HP:0007750","label":"Hypoplasia of the fovea","primary":false},{"hpoId":"HP:0007676","label":"Hypoplasia of the iris","primary":false},{"hpoId":"HP:0000482","label":"Microcornea","primary":false},{"hpoId":"HP:0000568","label":"Microphthalmia","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0007759","label":"Opacification of the corneal stroma","primary":false},{"hpoId":"HP:0000659","label":"Peters anomaly","primary":false},{"hpoId":"HP:0000627","label":"Posterior embryotoxon","primary":false},{"hpoId":"HP:0007663","label":"Reduced visual acuity","primary":false},{"hpoId":"HP:0000558","label":"Rieger anomaly","primary":false},{"hpoId":"HP:0000647","label":"Sclerocornea","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0000523","label":"Subcapsular cataract","primary":false},{"hpoId":"HP:0031159","label":"Thinning of Descemet membrane","primary":false}],"ledeHtml":"Peters anomaly is characterized by eye problems that occur in an area at the front part of the eye known as the anterior segment. The anterior segment consists of structures including the lens, the colored part (iris) of the eye, and the clear covering of the eye (cornea). During development of the eye, the elements of the anterior segment form separate structures. However, in Peters anomaly, development of the anterior segment is abnormal, leading to incomplete separation of the cornea from the iris or the lens. As a result, the cornea is cloudy (opaque), which causes blurred vision. The opaque area (opacity) of the cornea varies in size and intensity from a small, faint streak to a large, white cloudy area that covers the front surface of the eye. Additionally, the location of the opacity varies; the cloudiness may be at the center of the cornea or off-center. Large, centrally located opacities tend to cause poorer vision than smaller, off-center ones.","mondoId":"MONDO:0011414","records":[{"frequencyKind":"reported","key":"0a9c950db9719f84894029e8c6027c6de7048ab425570e3b9055522a59b83e5d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000627","is_excluded":false,"label":"Posterior embryotoxon","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"0b82c3d549ffa51c196e3721afd07bef6751cd1dd9782ba731a4f5528bc49c0a","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:708","disease_name":"Peters anomaly","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000523","is_excluded":false,"label":"Subcapsular cataract","onset_id":null,"reference":"ORPHA:708","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"26dd4e74808319886498fd2d933ce56b3ee3e6fa2e284efe684ca0530314c63e","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:708","disease_name":"Peters anomaly","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:708","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"301d4d7f8a2cee256304a56c2183bba3b5ed37dd28450d26425d3baa6f68b408","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:708","disease_name":"Peters anomaly","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011493","is_excluded":false,"label":"Central opacification of the cornea","onset_id":null,"reference":"ORPHA:708","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"310a142321ecb2eedbd766daeaab1e88b4fc6b6c48661982ca1b76efaeea88f7","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:708","disease_name":"Peters anomaly","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001087","is_excluded":false,"label":"Developmental glaucoma","onset_id":null,"reference":"ORPHA:708","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"34b06e2e028e25cd10b8017241efe59ca167233ecda60b7bc773c50bb46b866c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007750","is_excluded":false,"label":"Hypoplasia of the fovea","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"34f5e17cac847f1329bdecc72734e14fc329a3d1a5b5fa09d3ac80f305adcd1c","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:708","disease_name":"Peters anomaly","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"ORPHA:708","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"37dd87d1c0d0411f3df8a3df0d4d3c7072115ee0585dd5eb9991a04fb4cbc78d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011483","is_excluded":false,"label":"Anterior synechiae of the anterior chamber","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"713b99fdeafef35f47665dbb47507844bbf068b21e6e81a1bc5fe26c6e979571","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000501","is_excluded":false,"label":"Glaucoma","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7b2083eea20228caf52740dde49ced32f50f016a77fbc37ff12644a08b59cd14","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:708","disease_name":"Peters anomaly","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0031159","is_excluded":false,"label":"Thinning of Descemet membrane","onset_id":null,"reference":"ORPHA:708","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"7fcbd8d6c01f16cde94ffd5103ca0de5090499033bfadfe62824c4abd80b7ce8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000482","is_excluded":false,"label":"Microcornea","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"81f30c0d3cd14a887ab093795771b901c3bc13d173adf05f4c0810c1099b9e4e","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:708","disease_name":"Peters anomaly","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007759","is_excluded":false,"label":"Opacification of the corneal stroma","onset_id":null,"reference":"ORPHA:708","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"867e74dd98a249a62f90073f15b3909752cb354d3b1d06337fc3d275583b2d03","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"8bbb174643fdff750045f5f40aeed8f6e875b17d9716a8957c5cf48d5d48273b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007676","is_excluded":false,"label":"Hypoplasia of the iris","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"907bfd1de255120ec1e8719f85479a7fc8dcfcbdd07cd8141229909555bcdc54","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000647","is_excluded":false,"label":"Sclerocornea","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"91a378eb62ee2ebb9e81b3a1eb271657f2c29a7cb6ead811cf52bd6a1cb41a55","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"95838e3d9e5034605a6592956517f578aa250038843ea0bd8263930385c5be78","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:708","disease_name":"Peters anomaly","evidence":"TAS","frequency_raw":"HP:0040280","hpo_id":"HP:0000659","is_excluded":false,"label":"Peters anomaly","onset_id":null,"reference":"ORPHA:708","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"adda572591c3fe8f4bca3e971693e712815db64e228e90a1820df68d51394512","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b02f87698dd4103c627f8fa49e5a4cf306476a268aac8e8527a53c6ea662c7aa","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b97b443a6a5a9b8c551a108e9b5b7010ee336daf746e866d1dfd4d28a00ee609","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:708","disease_name":"Peters anomaly","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011483","is_excluded":false,"label":"Anterior synechiae of the anterior chamber","onset_id":null,"reference":"ORPHA:708","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c6178d6ca85bc74788e4b88620cd83e5be571188c4468d935c4767f9eed90f35","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000659","is_excluded":false,"label":"Peters anomaly","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f411e28024a89ca8f8354c97c4e0bd2c48d72c04915dc5ac098d9185fb7d379d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000558","is_excluded":false,"label":"Rieger anomaly","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f8900d700fa438cec75f933f1377ee62ccea1c73e37bd31ea7f9be44c5e28f9b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:604229","disease_name":"Anterior segment dysgenesis 5, multiple subtypes","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000519","is_excluded":false,"label":"Developmental cataract","onset_id":null,"reference":"OMIM:604229","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/peters-anomaly\">Peters anomaly</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the FOXC1, PAX6, PITX2, or CYP1B1 gene can cause Peters anomaly. The FOXC1, PAX6, and PITX2 genes are all members of a family called homeobox genes that direct the formation of many parts of the body. These three genes are involved in the development of the anterior segment of the eye. The CYP1B1 gene provides instructions for making an enzyme that is active in many tissues, including the eye. The enzyme&#x27;s role in these tissues is unclear; it is likely involved in the development of the anterior segment.</p><p>Mutations in any of these four genes disrupt development of the anterior segment of the eye. These mutations can lead to severe developmental problems, such as incomplete separation of eye structures and complete corneal opacity, or they can result in minor eye abnormalities including small, faint opacities. It is likely that mutations that cause a complete absence of protein function result in the most severe eye problems. It is unknown why both eyes are affected in some cases and in others only one eye is abnormal.</p><p>In many cases of Peters anomaly, there is no mutation identified in any of these four genes. The cause of the condition in these cases is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/peters-anomaly/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Peters anomaly?"},{"bodyHtml":"<p>Nearly half of the individuals affected with Peters anomaly have low vision early in life and about a quarter are legally blind. Due to a lack of visual stimulation, some individuals develop &quot;lazy eye&quot; (amblyopia). Peters anomaly is often associated with other eye problems, such as increased pressure within the eye (glaucoma), clouding of the lens (cataract), and unusually small eyeballs (microphthalmia). In most cases, Peters anomaly is bilateral, which means that it affects both eyes, although the level of vision impairment may be different in each eye. These individuals may have eyes that do not point in the same direction (strabismus). In some people with Peters anomaly, corneal clouding improves over time leading to improved vision.</p><p>There are two types of Peters anomaly, which are distinguished by their signs and symptoms. Peters anomaly type I is characterized by an incomplete separation of the cornea and iris and mild to moderate corneal opacity. Type II is characterized by an incomplete separation of the cornea and lens and severe corneal opacity that may involve the entire cornea.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/peters-anomaly\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"peters-anomaly","sourceDocuments":[{"name":"Peters anomaly","reviewed":"2014-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:10.378789+00:00","label":"Causes","pageSha256":"fb8c13e2a88381a2793753eecc50a82ff92350066eaeebe9968b0adb6fd88e15","sourceUrl":"https://medlineplus.gov/genetics/condition/peters-anomaly/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/peters-anomaly"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Peters anomaly"},"schemaVersion":1}