Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal fundus morphology (HP:0001098)help
Grandparent Node:
expand
Aplasia/Hypoplasia affecting the eye (HP:0008056)help
Parent Node:
expand
Abnormal retinal morphology (HP:0000479)help
Parent Node:
expand
Aplasia/Hypoplasia affecting the fundus (HP:0008057)help
..Starting node
..expand
Aplasia/Hypoplasia of the retina (HP:0008061)help
Term ID: 8061
Name: Aplasia/Hypoplasia of the retina
Synonym: Absent/small retina; Absent/underdeveloped retina
Definition:
Comments:
Reference: HP:0008061
Genes and Diseases:
 
       Child Nodes:
........expandHypoplasia of the retina (HP:0007770) help
........expandAplasia/Hypoplasia of the macula (HP:0008059) help
................... HP:0001104 Macular hypoplasia
................... HP:0008060 Aplasia/Hypoplasia of the fovea
........expandAplasia of the retina (HP:0010728) help

 Sister Nodes: 
..expandAplasia/Hypoplasia of the optic nerve (HP:0008058) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0ABCA4 CL E G H2434ORPHA:827Stargardt disease826
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinism1
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0CACNA1F CL E G H7781393OMIM:300600Aland island eye disease58
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0CACNA1F CL E G H7781393ORPHA:178333Åland Islands eye disease58
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0CNGB3 CL E G H547142153ORPHA:827Stargardt disease194
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0ELOVL4 CL E G H678514415ORPHA:827Stargardt disease62
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0FOXC1 CL E G H22963800ORPHA:250923Isolated aniridia63
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinism64
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies29
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0MTSS2 CL E G H9215425094OMIM:620086
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal disease35
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0PAX6 CL E G H50808620OMIM:136520Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included194
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0PAX6 CL E G H50808620ORPHA:250923Isolated aniridia194
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3180
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0PROM1 CL E G H88429454ORPHA:827Stargardt disease110
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0PRPH2 CL E G H59619942ORPHA:827Stargardt disease159
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0SLC24A5 CL E G H28365220611OMIM:113750Albinism, oculocutaneous, type VI12
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0SLC24A5 CL E G H28365220611ORPHA:370097Oculocutaneous albinism type 612
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 213
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 442
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0TRIM44 CL E G H5476519016ORPHA:250923Isolated aniridia1
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1A146
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1B146
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008061HP:0008061Aplasia/Hypoplasia of the retina0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008061HP:0010728Aplasia of the retina1 CL E G H
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1ABCA4 CL E G H2434ORPHA:827Stargardt diseaseHP:0040282 - Frequent826
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinism1
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1CACNA1F CL E G H7781393OMIM:300600Aland island eye disease58
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1CACNA1F CL E G H7781393ORPHA:178333Åland Islands eye disease58
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1CNGB3 CL E G H547142153ORPHA:827Stargardt diseaseHP:0040282 - Frequent194
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1ELOVL4 CL E G H678514415ORPHA:827Stargardt diseaseHP:0040282 - Frequent62
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1FOXC1 CL E G H22963800ORPHA:250923Isolated aniridiaHP:0040281 - Very frequent63
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinism64
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome239
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1MAF CL E G H40946776OMIM:610202Cataract 21, multiple types21
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies29
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1MTSS2 CL E G H9215425094OMIM:620086
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040283 - Occasional35
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1PAX6 CL E G H50808620OMIM:136520Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included194
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1PAX6 CL E G H50808620ORPHA:250923Isolated aniridiaHP:0040281 - Very frequent194
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0008061HP:0007770Hypoplasia of the retina1POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1PROM1 CL E G H88429454ORPHA:827Stargardt diseaseHP:0040282 - Frequent110
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1PRPH2 CL E G H59619942ORPHA:827Stargardt diseaseHP:0040282 - Frequent159
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1SLC24A5 CL E G H28365220611OMIM:113750Albinism, oculocutaneous, type VI12
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1SLC24A5 CL E G H28365220611ORPHA:370097Oculocutaneous albinism type 6HP:0040281 - Very frequent12
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 213
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 442
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1TRIM44 CL E G H5476519016ORPHA:250923Isolated aniridiaHP:0040281 - Very frequent1
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1A146
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1B146
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008061HP:0008059Aplasia/Hypoplasia of the macula1WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinism1
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0008061HP:0001104Macular hypoplasia2ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2CACNA1F CL E G H7781393OMIM:300600Aland island eye disease58
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2CACNA1F CL E G H7781393ORPHA:178333Åland Islands eye disease58
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0008061HP:0001104Macular hypoplasia2COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008061HP:0001104Macular hypoplasia2DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0008061HP:0001104Macular hypoplasia2EPG5 CL E G H5772429331OMIM:242840Vici syndrome40
HP:0008061HP:0001104Macular hypoplasia2FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinism64
HP:0008061HP:0001104Macular hypoplasia2HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome.2
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4123
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5105
HP:0008061HP:0001104Macular hypoplasia2HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 6.45
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti52
HP:0008061HP:0001104Macular hypoplasia2LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0008061HP:0001104Macular hypoplasia2LYST CL E G H11301968OMIM:214500Chediak-Higashi syndrome.239
HP:0008061HP:0001104Macular hypoplasia2MAF CL E G H40946776OMIM:610202Cataract 21, multiple typesHP:0040283 - Occasional21
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2124
HP:0008061HP:0001104Macular hypoplasia2MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies.29
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2MTSS2 CL E G H9215425094OMIM:620086
HP:0008061HP:0001104Macular hypoplasia2NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 243
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2121
HP:0008061HP:0033743Macular agenesis2PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes194
HP:0008061HP:0001104Macular hypoplasia2PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040282 - Frequent194
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitis194
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2PAX6 CL E G H50808620OMIM:136520Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included194
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2SLC24A5 CL E G H28365220611OMIM:113750Albinism, oculocutaneous, type VI12
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 213
HP:0008061HP:0001104Macular hypoplasia2SLC45A2 CL E G H5115116472OMIM:606574ALBINISM, OCULOCUTANEOUS, TYPE IV; OCA442
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 442
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1A146
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1B146
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008061HP:0033743Macular agenesis2WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008061HP:0008060Aplasia/Hypoplasia of the fovea2WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0008061HP:0011503Aplasia of the fovea3 CL E G H
HP:0008061HP:0007750Hypoplasia of the fovea3AP3D1 CL E G H8943568ORPHA:54X-linked recessive ocular albinismHP:0040282 - Frequent1
HP:0008061HP:0007750Hypoplasia of the fovea3ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040282 - Frequent10
HP:0008061HP:0007750Hypoplasia of the fovea3ATF6 CL E G H22926791OMIM:616517ACHROMATOPSIA 7; ACHM710
HP:0008061HP:0007750Hypoplasia of the fovea3BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0008061HP:0007750Hypoplasia of the fovea3BLOC1S5 CL E G H6391518561OMIM:619172HERMANSKY-PUDLAK SYNDROME 11; HPS11
HP:0008061HP:0007750Hypoplasia of the fovea3CACNA1F CL E G H7781393OMIM:300600Aland island eye disease.58
HP:0008061HP:0007750Hypoplasia of the fovea3CACNA1F CL E G H7781393ORPHA:178333Åland Islands eye diseaseHP:0040281 - Very frequent58
HP:0008061HP:0007750Hypoplasia of the fovea3CFAP418 CL E G H15765727232OMIM:617406Bardet-Biedl syndrome 21
HP:0008061HP:0007750Hypoplasia of the fovea3CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040282 - Frequent82
HP:0008061HP:0007750Hypoplasia of the fovea3CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0008061HP:0007750Hypoplasia of the fovea3CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040282 - Frequent194
HP:0008061HP:0007750Hypoplasia of the fovea3DCT CL E G H16382709OMIM:619165OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0008061HP:0007750Hypoplasia of the fovea3GDF3 CL E G H95734218OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB67
HP:0008061HP:0007750Hypoplasia of the fovea3GDF6 CL E G H3922554221OMIM:613703MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6; MCOPCB664
HP:0008061HP:0007750Hypoplasia of the fovea3GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040282 - Frequent19
HP:0008061HP:0007750Hypoplasia of the fovea3GPR143 CL E G H493520145ORPHA:54X-linked recessive ocular albinismHP:0040282 - Frequent64
HP:0008061HP:0007750Hypoplasia of the fovea3HPS4 CL E G H8978115844OMIM:614073Hermansky-Pudlak syndrome 4.123
HP:0008061HP:0007750Hypoplasia of the fovea3HPS5 CL E G H1123417022OMIM:614074Hermansky-Pudlak syndrome 5.105
HP:0008061HP:0007750Hypoplasia of the fovea3IKBKG CL E G H85175961OMIM:308300Incontinentia pigmenti.52
HP:0008061HP:0007750Hypoplasia of the fovea3MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0008061HP:0007750Hypoplasia of the fovea3MC1R CL E G H41576929ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent124
HP:0008061HP:0007750Hypoplasia of the fovea3MTSS2 CL E G H9215425094OMIM:620086
HP:0008061HP:0007750Hypoplasia of the fovea3NEU1 CL E G H47587758ORPHA:93400Congenital sialidosis type 2HP:0040283 - Occasional43
HP:0008061HP:0007750Hypoplasia of the fovea3OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0008061HP:0007750Hypoplasia of the fovea3OCA2 CL E G H49488101ORPHA:79432Oculocutaneous albinism type 2HP:0040282 - Frequent121
HP:0008061HP:0007750Hypoplasia of the fovea3PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0008061HP:0007750Hypoplasia of the fovea3PAX6 CL E G H50808620OMIM:604229Anterior segment dysgenesis 5, multiple subtypes.194
HP:0008061HP:0007750Hypoplasia of the fovea3PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040282 - Frequent194
HP:0008061HP:0007750Hypoplasia of the fovea3PAX6 CL E G H50808620OMIM:136520Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included.194
HP:0008061HP:0007750Hypoplasia of the fovea3PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040282 - Frequent80
HP:0008061HP:0007750Hypoplasia of the fovea3PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040282 - Frequent14
HP:0008061HP:0007750Hypoplasia of the fovea3PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0008061HP:0007750Hypoplasia of the fovea3RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040282 - Frequent200
HP:0008061HP:0007750Hypoplasia of the fovea3SLC24A5 CL E G H28365220611OMIM:113750Albinism, oculocutaneous, type VI.12
HP:0008061HP:0007750Hypoplasia of the fovea3SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 2.13
HP:0008061HP:0007750Hypoplasia of the fovea3SLC45A2 CL E G H5115116472ORPHA:79435Oculocutaneous albinism type 4HP:0040281 - Very frequent42
HP:0008061HP:0007750Hypoplasia of the fovea3TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0008061HP:0007750Hypoplasia of the fovea3TYR CL E G H729912442ORPHA:79431Oculocutaneous albinism type 1AHP:0040281 - Very frequent146
HP:0008061HP:0007750Hypoplasia of the fovea3TYR CL E G H729912442ORPHA:79434Oculocutaneous albinism type 1BHP:0040282 - Frequent146
HP:0008061HP:0007750Hypoplasia of the fovea3UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0008061HP:0007750Hypoplasia of the fovea3WT1 CL E G H749012796OMIM:106210Aniridia177


Genes (51) :ABCA4 AP3D1 ATF6 ATOH7 BLOC1S3 BLOC1S5 CACNA1F CFAP418 CNGA3 CNGB3 COL18A1 DCT DPYD ELOVL4 EPG5 FOXC1 FZD4 GDF3 GDF6 GNAT2 GPR143 HMX1 HPS4 HPS5 HPS6 IKBKG LAMB2 LYST MAF MC1R MPDZ MTSS2 MYO5A NDP NEU1 OCA2 PAX6 PDE6C PDE6H POMGNT1 PROM1 PRPH2 PRR12 RPGR SLC24A5 SLC38A8 SLC45A2 TRIM44 TYR UGP2 WT1

Diseases (46) :ORPHA:827 ORPHA:54 ORPHA:49382 OMIM:616517 ORPHA:91495 OMIM:614077 OMIM:619172 OMIM:300600 ORPHA:178333 OMIM:617406 OMIM:216900 OMIM:267750 OMIM:619165 ORPHA:1675 OMIM:242840 ORPHA:250923 OMIM:613703 OMIM:612109 OMIM:614073 OMIM:614074 OMIM:614075 OMIM:308300 OMIM:609049 OMIM:214500 OMIM:610202 OMIM:203200 ORPHA:79432 OMIM:615219 OMIM:620086 ORPHA:33445 ORPHA:93400 OMIM:106210 OMIM:604229 ORPHA:2334 OMIM:136520 OMIM:253280 OMIM:619539 OMIM:113750 ORPHA:370097 OMIM:609218 OMIM:606574 ORPHA:79435 OMIM:203100 ORPHA:79431 ORPHA:79434 OMIM:618744
 

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