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.
"},"coverage":{"countRecords":63,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":153,"sourceGroups":{"omim":31,"orphanet":42,"published":80}},"features":[{"hpoId":"HP:0001103","label":"Abnormal macular morphology","primary":false},{"hpoId":"HP:0012795","label":"Abnormal optic disc morphology","primary":false},{"hpoId":"HP:0008046","label":"Abnormal retinal vascular morphology","primary":false},{"hpoId":"HP:0000646","label":"Amblyopia","primary":false},{"hpoId":"HP:0007685","label":"Avascular peripheral retina","primary":false},{"hpoId":"HP:0000618","label":"Blindness","primary":false},{"hpoId":"HP:0001769","label":"Broad foot","primary":false},{"hpoId":"HP:0001169","label":"Broad palm","primary":false},{"hpoId":"HP:0000518","label":"Cataract","primary":false},{"hpoId":"HP:0001320","label":"Cerebellar vermis hypoplasia","primary":false},{"hpoId":"HP:0000533","label":"Chorioretinal atrophy","primary":false},{"hpoId":"HP:0100019","label":"Cortical cataract","primary":false},{"hpoId":"HP:0000490","label":"Deeply set eye","primary":false},{"hpoId":"HP:0000494","label":"Downslanted palpebral fissures","primary":false},{"hpoId":"HP:0025007","label":"Ectopic fovea","primary":false},{"hpoId":"HP:0100014","label":"Epiretinal membrane","primary":false},{"hpoId":"HP:0020045","label":"Esodeviation","primary":false},{"hpoId":"HP:0000565","label":"Esotropia","primary":false},{"hpoId":"HP:0030490","label":"Exudative vitreoretinopathy","primary":false},{"hpoId":"HP:0000297","label":"Facial hypotonia","primary":false},{"hpoId":"HP:0001493","label":"Falciform retinal fold","primary":false},{"hpoId":"HP:0032046","label":"Focal cortical dysplasia","primary":false},{"hpoId":"HP:0007359","label":"Focal-onset seizure","primary":false},{"hpoId":"HP:0006821","label":"Frontal polymicrogyria","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0000501","label":"Glaucoma","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0011003","label":"High myopia","primary":false},{"hpoId":"HP:0000666","label":"Horizontal nystagmus","primary":false},{"hpoId":"HP:0007811","label":"Horizontal pendular nystagmus","primary":false},{"hpoId":"HP:0002365","label":"Hypoplasia of the brainstem","primary":false},{"hpoId":"HP:0002079","label":"Hypoplasia of the corpus callosum","primary":false},{"hpoId":"HP:0001265","label":"Hyporeflexia","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0007989","label":"Intraretinal exudate","primary":false},{"hpoId":"HP:0001004","label":"Lymphedema","primary":false},{"hpoId":"HP:0040049","label":"Macular edema","primary":false},{"hpoId":"HP:0030496","label":"Macular exudate","primary":false},{"hpoId":"HP:0030503","label":"Macular telangiectasia","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0000568","label":"Microphthalmia","primary":false},{"hpoId":"HP:0011342","label":"Mild global developmental delay","primary":false},{"hpoId":"HP:0001256","label":"Mild intellectual disability","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0000545","label":"Nearsightedness","primary":false},{"hpoId":"HP:0100018","label":"Nuclear cataract","primary":false},{"hpoId":"HP:0000639","label":"Nystagmus","primary":false},{"hpoId":"HP:0000938","label":"Osteopenia","primary":false},{"hpoId":"HP:0001302","label":"Pachygyria","primary":false},{"hpoId":"HP:0007791","label":"Patchy atrophy of the retinal pigment epithelium","primary":false},{"hpoId":"HP:0003477","label":"Peripheral axonal neuropathy","primary":false},{"hpoId":"HP:0030667","label":"Peripheral retinal neovascularization","primary":false},{"hpoId":"HP:0007710","label":"Peripheral vitreous opacities","primary":false},{"hpoId":"HP:0001357","label":"Plagiocephaly","primary":false},{"hpoId":"HP:0001489","label":"Posterior vitreous detachment","primary":false},{"hpoId":"HP:0001622","label":"Premature birth","primary":false},{"hpoId":"HP:0000529","label":"Progressive vision loss","primary":false},{"hpoId":"HP:0011220","label":"Prominent forehead","primary":false},{"hpoId":"HP:0002757","label":"Recurrent fractures","primary":false},{"hpoId":"HP:0004349","label":"Reduced bone mineral density","primary":false},{"hpoId":"HP:0007663","label":"Reduced visual acuity","primary":false},{"hpoId":"HP:0001136","label":"Retinal arteriolar tortuosity","primary":false},{"hpoId":"HP:0000546","label":"Retinal degeneration","primary":false},{"hpoId":"HP:0000541","label":"Retinal detachment","primary":false},{"hpoId":"HP:0001147","label":"Retinal exudate","primary":false},{"hpoId":"HP:0008052","label":"Retinal fold","primary":false},{"hpoId":"HP:0011530","label":"Retinal hole","primary":false},{"hpoId":"HP:0030666","label":"Retinal neovascularization","primary":false},{"hpoId":"HP:0012841","label":"Retinal vascular tortuosity","primary":false},{"hpoId":"HP:0500049","label":"Retinopathy of prematurity","primary":false},{"hpoId":"HP:0012230","label":"Rhegmatogenous retinal detachment","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0001141","label":"Severely reduced visual acuity","primary":false},{"hpoId":"HP:0000594","label":"Shallow anterior chamber","primary":false},{"hpoId":"HP:0001773","label":"Short foot","primary":false},{"hpoId":"HP:0004279","label":"Short palm","primary":false},{"hpoId":"HP:0001518","label":"Small for gestational age","primary":false},{"hpoId":"HP:0002510","label":"Spastic tetraplegia","primary":false},{"hpoId":"HP:0000486","label":"Strabismus","primary":false},{"hpoId":"HP:0000523","label":"Subcapsular cataract","primary":false},{"hpoId":"HP:0011532","label":"Subretinal exudate","primary":false},{"hpoId":"HP:0031526","label":"Subretinal fluid","primary":false},{"hpoId":"HP:0030051","label":"Tip-toe gait","primary":false},{"hpoId":"HP:0007917","label":"Tractional retinal detachment","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false},{"hpoId":"HP:0007773","label":"Changes in the eye’s gel","primary":false},{"hpoId":"HP:0100832","label":"Vitreous floaters","primary":false},{"hpoId":"HP:0007902","label":"Vitreous hemorrhage","primary":false},{"hpoId":"HP:0002515","label":"Waddling gait","primary":false}],"ledeHtml":"Familial exudative vitreoretinopathy is a hereditary disorder that can cause vision loss that worsens over time. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. In people with this disorder, blood vessels do not fully develop at the outer edges (periphery) of the retina, which reduces the blood supply to this tissue. This prolonged reduction in blood supply (chronic ischemia) causes continued damage to the retina and can lead to worsening of the condition.","mondoId":"MONDO:0019516","records":[{"frequencyKind":"count","key":"0423a3388c61736f33f700c1a0dcb30b488a1880ad86275bc7e1ba93552dd200","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0000541","is_excluded":false,"label":"Retinal detachment","onset_id":null,"reference":"PMID:17325173","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0584dc3af95290180c6a78dd194f844de44579b9ceb616f885c50e3521bd190c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"4/12","hpo_id":"HP:0025007","is_excluded":false,"label":"Ectopic fovea","onset_id":null,"reference":"PMID:14507768","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"0596b12ab615c7438405bfd6c1670be018adc7aa163dcca468a5e8d5031c4ae8","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"0837386acb35076bbd0b7a7661704c04711a48a3a4c548c466f22872b8c57ec5","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"09d0ca9550495f7c2bec022adeed9181775b6e3544eb2b8b909f2b6509db8959","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:617572","disease_name":"Exudative vitreoretinopathy 7","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0030490","is_excluded":false,"label":"Exudative vitreoretinopathy","onset_id":null,"reference":"PMID:28575650","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0b77d1464ce53fc9b60e1c647604bc406bb3b214502861e3cb29ea5a12265a7a","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0011530","is_excluded":false,"label":"Retinal hole","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0c4aa1950f2b40a31e0f95030818a1c72d55180400d58d43431e4abdd4e398a1","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007811","is_excluded":false,"label":"Horizontal pendular nystagmus","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"107113c4670726ba6fb0db762612bc8f2ad97ed7e0c691cf1aa3a8d17046f6e5","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:605750","disease_name":"Exudative vitreoretinopathy 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001147","is_excluded":false,"label":"Retinal exudate","onset_id":null,"reference":"OMIM:605750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"11849a496734e2a14e3847e9c1308b6c0beb2aa60826359997f9ff532f82b0cb","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"14ad70538d59c715a4bf594307c76d4b7eb7d77e8d92ac5aa2b0505f4bf26b90","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000494","is_excluded":false,"label":"Downslanted palpebral fissures","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"16251a011a2e7a997e257a0fd2553b9a5095f53ef37aaebddbeacc12859ccadd","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0008052","is_excluded":false,"label":"Retinal fold","onset_id":null,"reference":"PMID:17325173","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"187759f46793d4c9a5a15979dee5b0c6903579b59da5e764127da5140ef91378","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"9/11","hpo_id":"HP:0001302","is_excluded":false,"label":"Pachygyria","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1b71df2a1ae5482508696b1d53e10071bb4189e0fdc79aec88a5aa7826cb1e58","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"3/8","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"1eaef46836f9227f90988ce2592f916d36c18c36b6da26ac2216dd64bb3389fc","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0008046","is_excluded":false,"label":"Abnormal retinal vascular morphology","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"2168626bef76c537ca552df3d4910ba92877619f0e47a348b208fae988745351","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0002757","is_excluded":false,"label":"Recurrent fractures","onset_id":null,"reference":"OMIM:133780","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"227144ac1a3546e8a232aeef81eed3dc955636c94671ad2e449dee852a443776","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0030666","is_excluded":false,"label":"Retinal neovascularization","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"233edd9ca2c302121abcc6dc22f4c0701a5979a9749290160602bc16ad258aea","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"239b65957efd28355fbdaba8e4af2fa78efd824608bd7a324d120f3393fef75e","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"8/12","hpo_id":"HP:0100832","is_excluded":false,"label":"Vitreous floaters","onset_id":null,"reference":"PMID:14507768","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"26f47059e1b7835b85bc3b746103277dedbffba66366521d2ef7c3e9bcfeefa1","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000523","is_excluded":false,"label":"Subcapsular cataract","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"27ddfd15addf1e643e347dadbeee79476e337131392f4fa625f11098c38cc263","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000618","is_excluded":false,"label":"Blindness","onset_id":null,"reference":"OMIM:133780","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"27eda895635417520cae2152bc614193bc073a24fed38e28eee13d70b4205f26","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000646","is_excluded":false,"label":"Amblyopia","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2856aba8b7eac549b0e5b71cb8b4c634dd3583b7d8260666923d894e3f633f68","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0007791","is_excluded":false,"label":"Patchy atrophy of the retinal pigment epithelium","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"2b4b80bce1bb3fc7ca6951edbcc7f7c23bf7087b804c3ca18ea368225d56953e","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001493","is_excluded":false,"label":"Falciform retinal fold","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2d969fd81830718ba3ac63f4fbd795c4cd63b1cbf72d669f4b42724cec17d219","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"OMIM:305390","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2da507910cc84ae680426c86df37c6e5c61fecb74cf3f33ba379ad616f4a17f8","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030496","is_excluded":false,"label":"Macular exudate","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2ead7695721e4b0b0f58436e1d8d24fce8b303aed0e1050533c3e22405ef1836","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613310","disease_name":"Exudative vitreoretinopathy 5","evidence":"PCS","frequency_raw":"3/6","hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"PMID:20159111","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"2ffb3a55d9a1f918a38b39ade58a87b278f0105da3c25ffa6078e4b9d1cd847b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0032046","is_excluded":false,"label":"Focal cortical dysplasia","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"30cb41afb9cf51f7df609c95997d74d113271feac0a70bcd35eb53007798ba00","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0001493","is_excluded":false,"label":"Falciform retinal fold","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"324b99de2eb24e82909da948c055a395b984e64f76d86a9cee341782ffa17e62","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0007917","is_excluded":false,"label":"Tractional retinal detachment","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"32c12a9fc5c6a5771617f4b10ddede60af16a1eb681183be1ffd08a630ababfe","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007685","is_excluded":false,"label":"Avascular peripheral retina","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"33798eb05762166b896764536c6a3efe477687b44e86c116a3d9735c4504fdb4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"33b4cb3865be4511d4cd791fa438436f60be5dc181c78bd92b0686c140d0d820","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"34a86b3eb53e3a21af22cb129f53da4e57f89a75b42aa4fe60bd768f29eaacc0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0030490","is_excluded":false,"label":"Exudative vitreoretinopathy","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"383b85e5c53ccb8037fad6666779f22d1ec2f6b8adafda48e34972f0d94524f4","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000523","is_excluded":false,"label":"Subcapsular cataract","onset_id":null,"reference":"PMID:14507768","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"38e23718d9287e3f2b1bb4d190cf212657af86d88d8173154275a97f7474806e","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613310","disease_name":"Exudative vitreoretinopathy 5","evidence":"PCS","frequency_raw":"3/6","hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"PMID:20159111","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3a3760c9c76897a70541954065016b59d627600f59cc1ca05656b9d10cf216ff","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0012841","is_excluded":false,"label":"Retinal vascular tortuosity","onset_id":null,"reference":"PMID:17325173","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3a6661352bcd3eb6f42ec7470539b1fba02432b8ab65c22aadb63cf66755f1d3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"7/11","hpo_id":"HP:0002079","is_excluded":false,"label":"Hypoplasia of the corpus callosum","onset_id":null,"reference":"PMID:23603762","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"3c19d1a3b3bfe97497bffe770cc51131a1f3daa9d6fd9995b50323cede71ea68","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000518","is_excluded":false,"label":"Cataract","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3debb3c55c785e7cc67fcba0869425adede621ac49242511c029310a8610a1c8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0007989","is_excluded":false,"label":"Intraretinal exudate","onset_id":null,"reference":"OMIM:305390","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3e4c8739df9675246c15334b6462303e2ebf7625fb284c9dfffa8c13b052c278","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0012795","is_excluded":false,"label":"Abnormal optic disc morphology","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"3ebca6a79e2eabdca726e11d4599dc61ff552c686ba13996db320d58ff2e6054","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0030666","is_excluded":false,"label":"Retinal neovascularization","onset_id":null,"reference":"PMID:17325173","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3f2265d86c88c3a635b183bcb274dff2676f29fb7030598ac7cff1f5f115e5ca","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"4/14","hpo_id":"HP:0011530","is_excluded":false,"label":"Retinal hole","onset_id":null,"reference":"PMID:14507768;PMID:15488808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"40f5e154c38ef61f5ee79720789c910375f75c5879d371e54877feac6c5244aa","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007917","is_excluded":false,"label":"Tractional retinal detachment","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"42f2de741e81beeb5cbf87a3500c4e102903974d6325acef48494e8f4f8cce2b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001256","is_excluded":false,"label":"Mild intellectual disability","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"440beb4571fe5022a1f2f1d3a76b3b012c718867ca1c60fa7c5053a79e69702f","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001103","is_excluded":false,"label":"Abnormal macular morphology","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"45ff62eed84858d4db97a057c4459edc94a21027e12ae9bb6521888fb6504f42","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0000533","is_excluded":false,"label":"Chorioretinal atrophy","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"47db56741b5f8b135a2bf03b2b345a9fcb4ac826a5b8f0b51266eae54941456f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007902","is_excluded":false,"label":"Vitreous hemorrhage","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"4de515926ee59eea5b66936a91eb44989a43439be33fc0b883352f5e699251d0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011530","is_excluded":false,"label":"Retinal hole","onset_id":null,"reference":"OMIM:305390","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4ee72e06b5a0b45a5fce8ac91c37f922136cc7b5cab32dcffd6c455a8c7c1cb7","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"530d6168b63badbc5fc32292b090c506d85113183cc61ae1254d02a20184c4a7","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000529","is_excluded":false,"label":"Progressive visual loss","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"53a33b66a2b6b53ce0188206088fcbe28440682cab5c0efdef0488df7bd529cd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"5/11","hpo_id":"HP:0007359","is_excluded":false,"label":"Focal-onset seizure","onset_id":null,"reference":"PMID:23603762","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"54d6ea97782e13617a3c3a543e33708073e5834d78ba35bca7de4f8f47bafcd8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001169","is_excluded":false,"label":"Broad palm","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"556ca9a758ba7e01032656e1728b96d8b56be03168d08378fd9e2e006f749702","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"2/11","hpo_id":"HP:0002365","is_excluded":false,"label":"Hypoplasia of the brainstem","onset_id":null,"reference":"PMID:23603762","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"55819177ba6373a81e115c25ad38097f7391fdaa18b181d8bf707897ddf922bf","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001773","is_excluded":false,"label":"Short foot","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5743f7bca3de0f68ec0edba002de25ce97855e6de360bca2cc05f620bdfda5fc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004349","is_excluded":false,"label":"Reduced bone mineral density","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"579e80644b90e7cd7ac0d18c05845d22553f1ef3e040fa3e0b6bf9bf69c0bdd6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0004279","is_excluded":false,"label":"Short palm","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"58d976d7e687c17d4f02cb277631c816e2af2d17edfc6442e4cd866551eee4fb","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001518","is_excluded":false,"label":"Small for gestational age","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5927d3fbd98f85e2262e90647fd752ab353adf5eb1919b3ef8b85cb4f92221c3","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000618","is_excluded":false,"label":"Blindness","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"59b3a79359d278f19c637aca428a45cd690c519c28d69826ad0b2ee9be1cbe93","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:605750","disease_name":"Exudative vitreoretinopathy 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011530","is_excluded":false,"label":"Retinal hole","onset_id":null,"reference":"OMIM:605750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"5a0d15d73fdbf9a3a1795697388df7a6016302158f3a15b2eabcc94028b85258","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"3/8","hpo_id":"HP:0002510","is_excluded":false,"label":"Spastic tetraplegia","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5b0a3323fd4ea4bebd9d370120890f53411b7ffc847ec18dac13192db9d44d2e","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0020045","is_excluded":false,"label":"Esodeviation","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"5e1638736ef04eeed17ed9570a6b57dd287b140997d3f4cf3a46a0564b71b3b6","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001493","is_excluded":false,"label":"Falciform retinal fold","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"609887a4d346e72ea6e69463c02144374a41a1c8be8f3e97a54823a15c11f307","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613310","disease_name":"Exudative vitreoretinopathy 5","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007917","is_excluded":false,"label":"Tractional retinal detachment","onset_id":null,"reference":"OMIM:613310","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"65422e94fd222289b71085ff46d18ffb228e631b1cb00d82cd4ee02588fa8669","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0040049","is_excluded":false,"label":"Macular edema","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6749bd79b8a1952bb3f48218ac116e8122d788e36c2c79a366ea9ca69a848f5c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"0/2","hpo_id":"HP:0030666","is_excluded":true,"label":"Retinal neovascularization","onset_id":null,"reference":"PMID:15488808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"67b3c58a2894b9aeb334acf19de5217014156e9e5b0aed4609b2ffb9dcc89da3","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0030503","is_excluded":false,"label":"Macular telangiectasia","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"6afb7f8481d1070e7886d734db8d6d366875d68f60162994428c7462384e6b0e","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0000545","is_excluded":false,"label":"Myopia","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"6ce92460ef9a81c6fa5a2a96600c674b00947f107e750fc8df3240fa257d9826","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:605750","disease_name":"Exudative vitreoretinopathy 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0008052","is_excluded":false,"label":"Retinal fold","onset_id":null,"reference":"OMIM:605750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"6cf6c0ea3508a6b0d486a6f1c9c3b400249e54c06c4d9892f5b57157ab0ea807","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:621268","disease_name":"Exudative vitreoretinopathy 8","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000541","is_excluded":false,"label":"Retinal detachment","onset_id":null,"reference":"PMID:34896607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"726e391aa6d774eeafd7557a8e94ef7073fd9389cb8c8e0cef43839cc31d6fb3","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:617572","disease_name":"Exudative vitreoretinopathy 7","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011530","is_excluded":false,"label":"Retinal hole","onset_id":null,"reference":"PMID:28575650","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"75e42f9249ec11f0a913c5e092dd8c812be91268c0a7e82a5025af4c54002fb1","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7c36d141adedbb8bdaedcb13664d6b72c31b9d54345f8d9c86c029c8a8b3bf63","raw":{"aspect":"P","body_system":"metabolic","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001004","is_excluded":false,"label":"Lymphedema","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"7f6dc33339ec0dd42a7885e4980cd6e9f67c2f11178f4556a284d8464976782f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0001147","is_excluded":false,"label":"Retinal exudate","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"7fe23e68c8ba40e27443f952abda74fc892a34b9de03dbddf4af27274a5a4d9d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"3/12","hpo_id":"HP:0001147","is_excluded":false,"label":"Retinal exudate","onset_id":null,"reference":"PMID:14507768","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"80132bf8f5e123277f8188f1fa643a9df21f4aa7285bf91ad655b2189332b291","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000565","is_excluded":false,"label":"Esotropia","onset_id":null,"reference":"PMID:15488808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"85151596dbe0b2b50b6d3343148224aa32c26346993e760691d1c4b6587396c5","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000533","is_excluded":false,"label":"Chorioretinal atrophy","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"85e24a64b136783a4a0f1a11a0ff8e27c6b8733af32c0740e7956f0e5e24178e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"3/11","hpo_id":"HP:0006821","is_excluded":false,"label":"Frontal polymicrogyria","onset_id":null,"reference":"PMID:23603762","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"878886daa590686aa0aa0a450628f61588a5755617f82a6244f1426a59ee96c4","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007917","is_excluded":false,"label":"Tractional retinal detachment","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"87c9a15104c726936b824d3e8e69a56b0199d50438dc5735b0c2520dae0b1117","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000490","is_excluded":false,"label":"Deeply set eye","onset_id":null,"reference":"OMIM:305390","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8f1b3dab85da1ac2104e7814a1d1f453b0d1513bbfc960996219d778aa6b18b2","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000618","is_excluded":false,"label":"Blindness","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8f92600172b185638b901e8a64f0bfc3b4ec5b81d60d908816add1edfea3679b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"7/8","hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9076bee71bc38128a54bab121b5d128865471325efbf030cc9365ae18eccb6c5","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0007685","is_excluded":false,"label":"Avascular peripheral retina","onset_id":null,"reference":"PMID:14507768;PMID:15488808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"908d7e9820b27d3414e3d2c521158b3f03d8aae4dd71056f975bb8eb67f2f46c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001769","is_excluded":false,"label":"Broad foot","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"91590c08836db2b7a030f4d52ea3dcde43cb4993492c218d1ee4ed006e140753","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001489","is_excluded":false,"label":"Posterior vitreous detachment","onset_id":null,"reference":"OMIM:133780","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"94d1b981885fc3d12ea44974e71f7fa8cabbb58437723dbf7ae6fcee178d6aa6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"951a23f0fdfb95f4234cb90a8508332fb205109ba5695eb5e1bbe715d6b6b880","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000618","is_excluded":false,"label":"Blindness","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"9600ad7842f139c7409f416c2c151bf813d9154b6b30c7126fbaa7197a14bafb","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001136","is_excluded":false,"label":"Retinal arteriolar tortuosity","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"986b3e2e449a0582e5ceec69765ba7d1c35cd57b43b6618137af9f517e0548e6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001357","is_excluded":false,"label":"Plagiocephaly","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"98c57a9020cfb7c1bdd31ce14a53b3b5860a13a6f30e4689cd04e5578e0cb52b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000297","is_excluded":false,"label":"Facial hypotonia","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9ab4d93fa28dea33a1409daa1369a84f965ab04cafb9e0520c7dfbe9ee15d2d0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:617572","disease_name":"Exudative vitreoretinopathy 7","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000541","is_excluded":false,"label":"Retinal detachment","onset_id":null,"reference":"PMID:28575650","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9b6bb948b184ab59e0065a3585babd22324ac70f6647d3686eded0cef75a008d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0100018","is_excluded":false,"label":"Nuclear cataract","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9c424029ea1d9d3dd1c463360d13d0f48e583ef6b86bf2efa5bec4b3abfbbd1a","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011532","is_excluded":false,"label":"Subretinal exudate","onset_id":null,"reference":"PMID:8457509","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9d099ad65f387f0e82e67ac609eb3d79c90b7c2754888e6ef116f5ee58f31859","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0007902","is_excluded":false,"label":"Vitreous hemorrhage","onset_id":null,"reference":"PMID:14507768","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"9e9f74821e4004e733c5434f2529d8edcc55aaa9568644810845d6761637ac0b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0030490","is_excluded":false,"label":"Exudative vitreoretinopathy","onset_id":null,"reference":"OMIM:305390","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"a15044db0295c81dbfe255934b8468d18967662bbf40b0a05f0393a77f4d2dfd","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012230","is_excluded":false,"label":"Rhegmatogenous retinal detachment","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"a2d79e3183826658caf6402d571a51768dd85756f6c3afcc7e14bc4b69022739","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0030051","is_excluded":false,"label":"Tip-toe gait","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a42a2dd62d27c1f01ef98f1dee6dd8c7ac1e74b14cd903972433416ad30afd44","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a594c2b2c798d6a2e73487b8a90a5c1d72837c2e1be5004ff1eb97fed3848478","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613310","disease_name":"Exudative vitreoretinopathy 5","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0001493","is_excluded":false,"label":"Falciform retinal fold","onset_id":null,"reference":"PMID:20159111","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"a69e3fd7bef70feaef34d2e89ddcd3684b7ca19a529438961043f667de7efd82","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007902","is_excluded":false,"label":"Vitreous hemorrhage","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"a6b1c5663445ad5e6118e3181a4f35c798bbacc6ba816d410d18e1a5c6e1e2ed","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:621268","disease_name":"Exudative vitreoretinopathy 8","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"PMID:34896607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a6eaf15d00d0c5e2dfd79d1b8ea43061e81bdd86706c1287cf8d9faf0c3a36bf","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0011220","is_excluded":false,"label":"Prominent forehead","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a870645b04030c7668b5ecb45b453aea8b538ca3961d8509490afae2ae684d02","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0030490","is_excluded":false,"label":"Exudative vitreoretinopathy","onset_id":null,"reference":"PMID:15488808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"ac9420690c6fe5bfff4c79c1fa53fe044016c02288f05e6b734a9e04ce91c077","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007685","is_excluded":false,"label":"Avascular peripheral retina","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ad9729f6ab23c7d8ccec6264d24382096cd3eaaf0a48d5982135da353bfda2d7","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0500049","is_excluded":false,"label":"Retinopathy of prematurity","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ae4ad5f028c57b61b1f22fef32a470afe3ae074378ada8c4f82170f944279abc","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000938","is_excluded":false,"label":"Osteopenia","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"ae55e234093f2c6e8e9e69497b59126e9b2694e9af9ec21accdae21b83f39866","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000486","is_excluded":false,"label":"Strabismus","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ae9bf74a8357bcba0d9c0124e135fe117050e0da8f5f5eb0a9d474dc64731c4f","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001141","is_excluded":false,"label":"Severely reduced visual acuity","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ae9c2863474945f13bb6239d8f4e53b229305c98395fbf3d03b325f462f27ecf","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:617572","disease_name":"Exudative vitreoretinopathy 7","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0008052","is_excluded":false,"label":"Retinal fold","onset_id":null,"reference":"PMID:28575650","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"aff43902464207fc2313875eb5c94ee13383a7793444e4308c07c7e701f9a519","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001489","is_excluded":false,"label":"Posterior vitreous detachment","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b2a636f7a8e99f9c73085e25360ae504652e89feffb4eaec66cb16208a56fff3","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0011342","is_excluded":false,"label":"Mild global developmental delay","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b2c17713cd078c149a49a5e66987f43605df1f7783d034a8a8586c8e5a3d69c1","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031526","is_excluded":false,"label":"Subretinal fluid","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b33dc526c2a30b8a26d54ed6a87eb7967e22d8770870819354198f2cee148273","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613310","disease_name":"Exudative vitreoretinopathy 5","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001147","is_excluded":false,"label":"Retinal exudate","onset_id":null,"reference":"OMIM:613310","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b4d6d08fa3894a240c918b9ceb6c4cca1787c3c699e278d13094c6184af14a4f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613310","disease_name":"Exudative vitreoretinopathy 5","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000594","is_excluded":false,"label":"Shallow anterior chamber","onset_id":null,"reference":"OMIM:613310","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"b7f227624d65416ced7a86d3b28a2e211f6fb0d4cac3e61022bebdec97aac23d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b8bcf42c3bd22517b63ae97e22ede12c3d6c88b26e423449836f5a1060cdf45b","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"PMID:17325173","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b9a7dbaa798e496c36e1faddcabcd7f037798bfa61def3feb30fafbb0151bb7d","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100832","is_excluded":false,"label":"Vitreous floaters","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"bb2632294e8860f9e73a1c33d8d2ef0b50ab2889c29a5f31151d3a951e039007","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001493","is_excluded":false,"label":"Falciform retinal fold","onset_id":null,"reference":"PMID:20159112","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"bc274d27751a18ad2269bfa1dbffdae8120e92c9a25c529462772689b597a5c7","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000568","is_excluded":false,"label":"Microphthalmia","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bd100c78543c02d26a626272238993f16d97d58d1589101713987e567e19df95","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"OMIM:305390","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bd1736c2e3feaa6383628b7212ee667bcfb84001e62599b8b4767bf26cbd058e","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0007902","is_excluded":false,"label":"Vitreous hemorrhage","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"bf1137549d4b1d6dca94cd073570be396bf3d979ae98e72f13058fb3edd45045","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000594","is_excluded":false,"label":"Shallow anterior chamber","onset_id":null,"reference":"PMID:17325173","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"c3b30a31f335846f37cf7667c18494fbb45c49f7a42e594c4143736fa6463619","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:605750","disease_name":"Exudative vitreoretinopathy 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0030490","is_excluded":false,"label":"Exudative vitreoretinopathy","onset_id":null,"reference":"OMIM:605750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"c43b5b46fac8564210eada272d2bfa10f1d1f08649103e289abce87dbdae2434","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"3/11","hpo_id":"HP:0001320","is_excluded":false,"label":"Cerebellar vermis hypoplasia","onset_id":null,"reference":"PMID:23603762","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c7296f9fec1448ae78f4fc3c6e300f0b972897ac47e6ff8fa202414817689497","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0000666","is_excluded":false,"label":"Horizontal nystagmus","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cbcdb593ee54154aaae15a90526ae69f47b07d39bc9ced131d7a3e8f8f323a9a","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:605750","disease_name":"Exudative vitreoretinopathy 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0000541","is_excluded":false,"label":"Retinal detachment","onset_id":null,"reference":"OMIM:605750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"cc0254100b5075301919aa81fad1aa9ac69cc31487f7b89c19a7ec351636d9ef","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0007710","is_excluded":false,"label":"Peripheral vitreous opacities","onset_id":null,"reference":"PMID:1642288","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d003e5c0874e7ad144ef03c8ae6fbb6176aeb4bd0fd9e5976245f837059c4dc8","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":"3/4","hpo_id":"HP:0007685","is_excluded":false,"label":"Avascular peripheral retina","onset_id":null,"reference":"PMID:17325173","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d040ec5a87f2f5617cccec938926167b22c1c131d0c98e5977a15bf6682ccafb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d19372fdef055bef3a8ba452da063a6386a860f389d4b999135527caf3610670","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"12/14","hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"PMID:14507768;PMID:15488808","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d2a724db85f2c3b25694f320c3ba9ffa00b9d85f2cf90b244dc60b1e33e39b6d","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"4/12","hpo_id":"HP:0001493","is_excluded":false,"label":"Falciform retinal fold","onset_id":null,"reference":"PMID:14507768","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d2af09511db5767b8aba8f4a1f1aa6877de36d524fedecee2e1a2cd78a6eb102","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:305390","disease_name":"Exudative vitreoretinopathy 2, X-linked","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0011003","is_excluded":false,"label":"High myopia","onset_id":null,"reference":"PMID:17325173","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d373943eb6bb687256f5f2b671535480136f557c605373fb68c37c8ac36bbf81","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:605750","disease_name":"Exudative vitreoretinopathy 3","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0007663","is_excluded":false,"label":"Reduced visual acuity","onset_id":null,"reference":"OMIM:605750","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d39b37a8da9c0b61aec02031648484dab89ff0cf63168f2bf4f32cab5a531e7a","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:617572","disease_name":"Exudative vitreoretinopathy 7","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000639","is_excluded":false,"label":"Nystagmus","onset_id":null,"reference":"PMID:28575650","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d3bba7493fdb898e13487526257471dacf8d622300a66776093cc81b0acf1f98","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"6/11","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:23603762","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d6b5d8435509e349744f45166da837d644e61fdfe9330eee3d7c645193676bf7","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:613310","disease_name":"Exudative vitreoretinopathy 5","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0030490","is_excluded":false,"label":"Exudative vitreoretinopathy","onset_id":null,"reference":"PMID:20159111","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"d78182b272946d8dcf90b7964b653705589045206318c036b0d1893753336195","raw":{"aspect":"P","body_system":"prenatal","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001622","is_excluded":false,"label":"Premature birth","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"d928ae63c3dc881945b5350c30fbc8b4be61e00404a1815580bf6f0323eae970","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:601813","disease_name":"Exudative vitreoretinopathy 4","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001147","is_excluded":false,"label":"Retinal exudate","onset_id":null,"reference":"OMIM:601813","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"d937c150379a625b5df7074ef3d938c39e7fa1eb8c09e7e8a1dbf72f32043cbf","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"3/8","hpo_id":"HP:0003477","is_excluded":false,"label":"Peripheral axonal neuropathy","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"da3c896eac7a8686a6e26d8cd881da3f20f10aa6c5fe5b06702d8f5d282882e7","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100014","is_excluded":false,"label":"Epiretinal membrane","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"df7926dec11879ecaa4c2b669de66a46f0c4b605123742db2c30730e2aad19d0","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"6/6","hpo_id":"HP:0030490","is_excluded":false,"label":"Exudative vitreoretinopathy","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e4c8f1782a07e1f5f63e4039f4c8e69c795ceae6c02351fe7aa2433b86be914a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"OMIM:614563","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e4d69288ba5885926f92bf6edd6befd37ab222eca7f5f3c266d08100d65c2d90","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0001489","is_excluded":false,"label":"Posterior vitreous detachment","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e68d157541983c738c238c06a4e795d7b26948d576eaf503a4e65ac05ea91e6f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:133780","disease_name":"Exudative vitreoretinopathy 1","evidence":"PCS","frequency_raw":"6/16","hpo_id":"HP:0000541","is_excluded":false,"label":"Retinal detachment","onset_id":null,"reference":"PMID:14507768;PMID:12172548","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e7772c33656db0a5a773b2b18b83f3f7a6d95d5f700d1bcbe184dca1d1e2b322","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"2/6","hpo_id":"HP:0000541","is_excluded":false,"label":"Retinal detachment","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e832e78416673707516ba8962e41c5b5c372363150e01d882fa4eedb4709c74a","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0007917","is_excluded":false,"label":"Tractional retinal detachment","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f07aec06b1b332a3f8adf4c96e11a41df96990d2919d988af8b2c38075f31ee8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001265","is_excluded":false,"label":"Hyporeflexia","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f13c1d9995b9aa58b65c896bd4c469869c8ceb7e2de723b5127e7b75c63e80e4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:614563","disease_name":"Cortical dysplasia, complex, with other brain malformations 13","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0002515","is_excluded":false,"label":"Waddling gait","onset_id":null,"reference":"PMID:21076407","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f1cc60bbaa5b07469f6177feca4fb4fee96f300af0b5a2a8a752261d1ed73ed2","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:617572","disease_name":"Exudative vitreoretinopathy 7","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0000546","is_excluded":false,"label":"Retinal degeneration","onset_id":null,"reference":"PMID:28575650","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"f27e9a065da79a97c138f91bc3b403f31c8085489aafe27848437760c61e1271","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:621268","disease_name":"Exudative vitreoretinopathy 8","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001493","is_excluded":false,"label":"Falciform retinal fold","onset_id":null,"reference":"PMID:34896607","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f4f99336edc995ecbf8c00f18a91279387245337426d120696a551bf8b325bb8","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:90050","disease_name":"Retinopathy of prematurity","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000501","is_excluded":false,"label":"Glaucoma","onset_id":null,"reference":"ORPHA:90050","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"f7800c594b62be14a14171e9ffb2f0ce364a8c6ea17c59a12cfa28c96d322172","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:891","disease_name":"Familial exudative vitreoretinopathy","evidence":"TAS","frequency_raw":"HP:0040280","hpo_id":"HP:0007773","is_excluded":false,"label":"Vitreoretinopathy","onset_id":null,"reference":"ORPHA:891","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"f9a1eddb6ab58b81073c071d0b184112dc0852985568c694b63662965c3e3b3f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:616468","disease_name":"Exudative vitreoretinopathy 6","evidence":"PCS","frequency_raw":"1/6","hpo_id":"HP:0100019","is_excluded":false,"label":"Cortical cataract","onset_id":null,"reference":"PMID:23716654","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"fb27bdcb625f8ca598e1b1a03471fcda01929d513c032128aa8cefc39bac5384","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:621268","disease_name":"Exudative vitreoretinopathy 8","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0030667","is_excluded":false,"label":"Peripheral retinal neovascularization","onset_id":null,"reference":"PMID:34896607","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"Variants (also called mutations) in the FZD4, LRP5, and NDP genes cause most cases of familial exudative vitreoretinopathy. These genes provide instructions for making proteins that participate in a chemical signaling pathway that affects the way cells and tissues develop. In particular, the proteins produced from the FZD4, LRP5, and NDP genes appear to play critical roles in the specialization of retinal cells and the formation of blood vessels in the retina and the inner ear. The LRP5 protein also helps regulate bone formation.
Variants in the FZD4, LRP5, or NDP gene disrupt chemical signaling during early development, which interferes with the formation of blood vessels at the periphery of the retina. The resulting abnormal blood supply to this tissue leads to retinal damage and vision loss in some people with familial exudative vitreoretinopathy.
The eye abnormalities associated with familial exudative vitreoretinopathy tend to be similar no matter which gene is altered. However, affected individuals with LRP5 gene variants often have reduced bone mineral density in addition to vision loss. Variants in the other genes responsible for familial exudative vitreoretinopathy do not appear to affect bone density.
Variants in other genes each cause a small number of cases of familial exudative vitreoretinopathy. In other cases, the cause of familial exudative vitreoretinopathy is unknown.
","key":"forms","title":"What causes Familial exudative vitreoretinopathy?"},{"bodyHtml":"The signs and symptoms of familial exudative vitreoretinopathy vary widely, even within the same family. In many affected individuals, the retinal abnormalities never cause any vision problems. Other people with this condition develop abnormal vessels that leak. This causes chronic inflammation which, over time, can lead to fluid under the retina (exudate). A reduction in the retina's blood supply causes the retina to fold, tear, or separate from the back of the eye (retinal detachment). The resulting retinal damage can lead to vision loss and blindness. Other eye abnormalities are also possible, including eyes that do not look in the same direction (strabismus) and a visible whiteness (leukocoria) in the normally black pupil.
Some people with familial exudative vitreoretinopathy also have a condition known as osteoporosis-pseudoglioma syndrome, which is characterized by reduced bone density. People with this condition have weakened bones and an increased risk of fractures.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"familial-exudative-vitreoretinopathy","sourceDocuments":[{"name":"Familial exudative vitreoretinopathy","reviewed":"2024-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:21.915952+00:00","label":"Causes","pageSha256":"730b6fc3c0631398cf0a08d5ec7d07b685fe5abd90479c43dc0512d2b1bb48e3","sourceUrl":"https://medlineplus.gov/genetics/condition/familial-exudative-vitreoretinopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/familial-exudative-vitreoretinopathy"}],"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":"Familial exudative vitreoretinopathy"},"schemaVersion":1}