Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the optic nerve (HP:0000587)help
Parent Node:
expand
Abnormality of the optic disc (HP:0012795)help
..Starting node
..expand
Optic disc pallor (HP:0000543)help
Term ID: 543
Name: Optic disc pallor
Synonym: Disc pallor; Optic disk pallor; Pale optic disc; Pale optic discs; Pale optic disk
Definition: A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.
Comments:
Reference: HP:0000543
Genes and Diseases:
 
       Child Nodes:
........expandTemporal optic disc pallor (HP:0012511) help
................... HP:0500086 Optic nerve gray crescent
........expandDiffuse optic disc pallor (HP:0012512) help
................... HP:0500087 Peripapillary atrophy

 Sister Nodes: 
..expandIncreased cup-to-disc ratio (HP:0012796) help
..expandOptic atrophy (HP:0000648) help
..expandOptic disc drusen (HP:0012426) help
..expandPapilledema (HP:0001085) help
..expandPseudopapilledema (HP:0000538) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000543HP:0000543Optic disc pallor0ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280211234601691
HP:0000543HP:0000543Optic disc pallor0ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM112616066617036
HP:0000543HP:0000543Optic disc pallor0AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM179312359604392
HP:0000543HP:0000543Optic disc pallor0ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1737617090616432
HP:0000543HP:0000543Optic disc pallor0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1237682607560
HP:0000543HP:0000543Optic disc pallor0ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM11018325419608922
HP:0000543HP:0000543Optic disc pallor0ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM155117146615407
HP:0000543HP:0000543Optic disc pallor0ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM177410548601556
HP:0000543HP:0000543Optic disc pallor0BBS2 CL E G H583616562Retinitis pigmentosa 74616562C4225281OMIM196478967606151
HP:0000543HP:0000543Optic disc pallor0BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131949212703607854
HP:0000543HP:0000543Optic disc pallor0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM143420914609762
HP:0000543HP:0000543Optic disc pallor0CERKL CL E G H375298608380Retinitis pigmentosa 26608380C1842127OMIM13942321699608381
HP:0000543HP:0000543Optic disc pallor0CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM11003852025602727
HP:0000543HP:0000543Optic disc pallor0CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM124308105607805
HP:0000543HP:0000543Optic disc pallor0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11164392605606530
HP:0000543HP:0000543Optic disc pallor0EYS CL E G H346007602772Retinitis pigmentosa 25602772C1864446OMIM1338204721555612424
HP:0000543HP:0000543Optic disc pallor0FAM161A CL E G H84140606068Retinitis pigmentosa 28606068C1419614OMIM12036225808613596
HP:0000543HP:0000543Optic disc pallor0FLRT1 CL E G H23769320406ORPHA111213760604806
HP:0000543HP:0000543Optic disc pallor0GNAT1 CL E G H2779616389Night blindness, congenital stationary, type 1g616389C4225345OMIM1101504393139330
HP:0000543HP:0000543Optic disc pallor0HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0000543HP:0000543Optic disc pallor0HK1 CL E G H3098617460Retinitis pigmentosa 79617460C4479526OMIM192294922142600
HP:0000543HP:0000543Optic disc pallor0HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0000543HP:0000543Optic disc pallor0IDH3B CL E G H3420612572Retinitis pigmentosa 46612572C2675496OMIM141595385604526
HP:0000543HP:0000543Optic disc pallor0IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM12757130391607386
HP:0000543HP:0000543Optic disc pallor0IMPDH1 CL E G H3614180105Retinitis pigmentosa 10180105C1867299OMIM1242826052146690
HP:0000543HP:0000543Optic disc pallor0ITM2B CL E G H9445616079Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities616079C4015146OMIM16686174603904
HP:0000543HP:0000543Optic disc pallor0KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101466259603208
HP:0000543HP:0000543Optic disc pallor0KLC2 CL E G H64837320406ORPHA133120716611729
HP:0000543HP:0000543Optic disc pallor0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM133120716611729
HP:0000543HP:0000543Optic disc pallor0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM1241826685604863
HP:0000543HP:0000543Optic disc pallor0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM196228072615831
HP:0000543HP:0000543Optic disc pallor0MAK CL E G H4117614181Retinitis pigmentosa 62614181C3280042OMIM1242416816154235
HP:0000543HP:0000543Optic disc pallor0MERTK CL E G H10461613862Retinitis pigmentosa 38613862C3151228OMIM1894617027604705
HP:0000543HP:0000543Optic disc pallor0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM123180916877608507
HP:0000543HP:0000543Optic disc pallor0MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM123180916877608507
HP:0000543HP:0000543Optic disc pallor0MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0000543HP:0000543Optic disc pallor0MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM11833707530251170
HP:0000543HP:0000543Optic disc pallor0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0000543HP:0000543Optic disc pallor0NMNAT1 CL E G H64802608553Leber congenital amaurosis 9608553C1837873OMIM17614417877608700
HP:0000543HP:0000543Optic disc pallor0NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341597975132890
HP:0000543HP:0000543Optic disc pallor0OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1914621652607649
HP:0000543HP:0000543Optic disc pallor0PANK2 CL E G H80025216866ORPHA118225815894606157
HP:0000543HP:0000543Optic disc pallor0PDE6A CL E G H5145613810Retinitis pigmentosa 43613810C3151139OMIM1514938785180071
HP:0000543HP:0000543Optic disc pallor0PDE6G CL E G H5148613582Retinitis pigmentosa 57613582C3150821OMIM12708789180073
HP:0000543HP:0000543Optic disc pallor0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11407828850602136
HP:0000543HP:0000543Optic disc pallor0PRCD CL E G H768206610599Retinitis pigmentosa 36610599C1864621OMIM1710032528610598
HP:0000543HP:0000543Optic disc pallor0PRPF4 CL E G H9128615922Retinitis pigmentosa 70615922C4014681OMIM1412617349607795
HP:0000543HP:0000543Optic disc pallor0RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM11216018647610502
HP:0000543HP:0000543Optic disc pallor0SNRNP200 CL E G H23020610359Retinitis pigmentosa 33610359C1835895OMIM13549130859601664
HP:0000543HP:0000543Optic disc pallor0TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM1110825382612988
HP:0000543HP:0000543Optic disc pallor0TRNT1 CL E G H51095616959Retinitis pigmentosa and erythrocytic microcytosis616959C4310776OMIM12634917341612907
HP:0000543HP:0000543Optic disc pallor0TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1790218127610053
HP:0000543HP:0000543Optic disc pallor0TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17531012423602280
HP:0000543HP:0000543Optic disc pallor0TULP1 CL E G H7287600132Retinitis pigmentosa 14600132C1838603OMIM17531012423602280
HP:0000543HP:0000543Optic disc pallor0UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1256213478608047
HP:0000543HP:0000543Optic disc pallor0ZNF408 CL E G H79797616469Retinitis pigmentosa 72616469C4225315OMIM11421820041616454
HP:0000543HP:0000543Optic disc pallor0ZNF513 CL E G H130557613617Retinitis pigmentosa 58613617C3150879OMIM1318826498613598
HP:0000543HP:0000543Optic disc pallor1ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280211234601691
HP:0000543HP:0000543Optic disc pallor1ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM112616066617036
HP:0000543HP:0000543Optic disc pallor1AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM179312359604392
HP:0000543HP:0000543Optic disc pallor1ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1737617090616432
HP:0000543HP:0000543Optic disc pallor1ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1237682607560
HP:0000543HP:0000543Optic disc pallor1ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM11018325419608922
HP:0000543HP:0000543Optic disc pallor1ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM155117146615407
HP:0000543HP:0000543Optic disc pallor1ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM177410548601556
HP:0000543HP:0000543Optic disc pallor1BBS2 CL E G H583616562Retinitis pigmentosa 74616562C4225281OMIM196478967606151
HP:0000543HP:0000543Optic disc pallor1BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131949212703607854
HP:0000543HP:0000543Optic disc pallor1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM143420914609762
HP:0000543HP:0000543Optic disc pallor1CERKL CL E G H375298608380Retinitis pigmentosa 26608380C1842127OMIM13942321699608381
HP:0000543HP:0000543Optic disc pallor1CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM11003852025602727
HP:0000543HP:0000543Optic disc pallor1CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM124308105607805
HP:0000543HP:0000543Optic disc pallor1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11164392605606530
HP:0000543HP:0000543Optic disc pallor1EYS CL E G H346007602772Retinitis pigmentosa 25602772C1864446OMIM1338204721555612424
HP:0000543HP:0000543Optic disc pallor1FAM161A CL E G H84140606068Retinitis pigmentosa 28606068C1419614OMIM12036225808613596
HP:0000543HP:0000543Optic disc pallor1FLRT1 CL E G H23769320406ORPHA111213760604806
HP:0000543HP:0000543Optic disc pallor1GNAT1 CL E G H2779616389Night blindness, congenital stationary, type 1g616389C4225345OMIM1101504393139330
HP:0000543HP:0000543Optic disc pallor1HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0000543HP:0000543Optic disc pallor1HK1 CL E G H3098617460Retinitis pigmentosa 79617460C4479526OMIM192294922142600
HP:0000543HP:0000543Optic disc pallor1HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0000543HP:0000543Optic disc pallor1IDH3B CL E G H3420612572Retinitis pigmentosa 46612572C2675496OMIM141595385604526
HP:0000543HP:0000543Optic disc pallor1IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM12757130391607386
HP:0000543HP:0000543Optic disc pallor1IMPDH1 CL E G H3614180105Retinitis pigmentosa 10180105C1867299OMIM1242826052146690
HP:0000543HP:0000543Optic disc pallor1ITM2B CL E G H9445616079Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities616079C4015146OMIM16686174603904
HP:0000543HP:0000543Optic disc pallor1KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101466259603208
HP:0000543HP:0000543Optic disc pallor1KLC2 CL E G H64837320406ORPHA133120716611729
HP:0000543HP:0000543Optic disc pallor1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM133120716611729
HP:0000543HP:0000543Optic disc pallor1LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM1241826685604863
HP:0000543HP:0000543Optic disc pallor1LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM196228072615831
HP:0000543HP:0000543Optic disc pallor1MAK CL E G H4117614181Retinitis pigmentosa 62614181C3280042OMIM1242416816154235
HP:0000543HP:0000543Optic disc pallor1MERTK CL E G H10461613862Retinitis pigmentosa 38613862C3151228OMIM1894617027604705
HP:0000543HP:0000543Optic disc pallor1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM123180916877608507
HP:0000543HP:0000543Optic disc pallor1MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM123180916877608507
HP:0000543HP:0000543Optic disc pallor1MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0000543HP:0000543Optic disc pallor1MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM11833707530251170
HP:0000543HP:0000543Optic disc pallor1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0000543HP:0000543Optic disc pallor1NMNAT1 CL E G H64802608553Leber congenital amaurosis 9608553C1837873OMIM17614417877608700
HP:0000543HP:0000543Optic disc pallor1NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341597975132890
HP:0000543HP:0000543Optic disc pallor1OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1914621652607649
HP:0000543HP:0000543Optic disc pallor1PANK2 CL E G H80025216866ORPHA118225815894606157
HP:0000543HP:0000543Optic disc pallor1PDE6A CL E G H5145613810Retinitis pigmentosa 43613810C3151139OMIM1514938785180071
HP:0000543HP:0000543Optic disc pallor1PDE6G CL E G H5148613582Retinitis pigmentosa 57613582C3150821OMIM12708789180073
HP:0000543HP:0000543Optic disc pallor1PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11407828850602136
HP:0000543HP:0000543Optic disc pallor1PRCD CL E G H768206610599Retinitis pigmentosa 36610599C1864621OMIM1710032528610598
HP:0000543HP:0000543Optic disc pallor1PRPF4 CL E G H9128615922Retinitis pigmentosa 70615922C4014681OMIM1412617349607795
HP:0000543HP:0000543Optic disc pallor1RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM11216018647610502
HP:0000543HP:0000543Optic disc pallor1SNRNP200 CL E G H23020610359Retinitis pigmentosa 33610359C1835895OMIM13549130859601664
HP:0000543HP:0000543Optic disc pallor1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM1110825382612988
HP:0000543HP:0000543Optic disc pallor1TRNT1 CL E G H51095616959Retinitis pigmentosa and erythrocytic microcytosis616959C4310776OMIM12634917341612907
HP:0000543HP:0000543Optic disc pallor1TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1790218127610053
HP:0000543HP:0000543Optic disc pallor1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17531012423602280
HP:0000543HP:0000543Optic disc pallor1TULP1 CL E G H7287600132Retinitis pigmentosa 14600132C1838603OMIM17531012423602280
HP:0000543HP:0000543Optic disc pallor1UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1256213478608047
HP:0000543HP:0000543Optic disc pallor1ZNF408 CL E G H79797616469Retinitis pigmentosa 72616469C4225315OMIM11421820041616454
HP:0000543HP:0000543Optic disc pallor1ZNF513 CL E G H130557613617Retinitis pigmentosa 58613617C3150879OMIM1318826498613598
HP:0000543HP:0000543Optic disc pallor2ABCA4 CL E G H24601718Retinitis pigmentosa 19601718C1866422OMIM11280211234601691
HP:0000543HP:0000543Optic disc pallor2ACER3 CL E G H55331617762LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET617762C4540358OMIM112616066617036
HP:0000543HP:0000543Optic disc pallor2AIPL1 CL E G H23746604393Leber congenital amaurosis 4604393C1858386OMIM179312359604392
HP:0000543HP:0000543Optic disc pallor2ARHGEF18 CL E G H23370617433Retinitis pigmentosa 78617433C4479481OMIM1737617090616432
HP:0000543HP:0000543Optic disc pallor2ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1237682607560
HP:0000543HP:0000543Optic disc pallor2ARL13B CL E G H200894612291Joubert syndrome 8612291C2676771OMIM11018325419608922
HP:0000543HP:0000543Optic disc pallor2ARL2BP CL E G H23568615434Retinitis pigmentosa with or without situs inversus615434C3809503OMIM155117146615407
HP:0000543HP:0000543Optic disc pallor2ATXN1 CL E G H6310164400Spinocerebellar ataxia 1164400C0752120OMIM177410548601556
HP:0000543HP:0000543Optic disc pallor2BBS2 CL E G H583616562Retinitis pigmentosa 74616562C4225281OMIM196478967606151
HP:0000543HP:0000543Optic disc pallor2BEST1 CL E G H7439613194Retinitis pigmentosa 50613194C2750788OMIM131949212703607854
HP:0000543HP:0000543Optic disc pallor2BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM143420914609762
HP:0000543HP:0000543Optic disc pallor2CERKL CL E G H375298608380Retinitis pigmentosa 26608380C1842127OMIM13942321699608381
HP:0000543HP:0000543Optic disc pallor2CLCN7 CL E G H1186611490Osteopetrosis autosomal recessive 4611490C1969106OMIM11003852025602727
HP:0000543HP:0000543Optic disc pallor2CNNM4 CL E G H26504217080Cone-rod dystrophy amelogenesis imperfecta217080C1857588OMIM124308105607805
HP:0000543HP:0000543Optic disc pallor2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM11164392605606530
HP:0000543HP:0000543Optic disc pallor2EYS CL E G H346007602772Retinitis pigmentosa 25602772C1864446OMIM1338204721555612424
HP:0000543HP:0000543Optic disc pallor2FAM161A CL E G H84140606068Retinitis pigmentosa 28606068C1419614OMIM12036225808613596
HP:0000543HP:0000543Optic disc pallor2FLRT1 CL E G H23769320406ORPHA111213760604806
HP:0000543HP:0000543Optic disc pallor2GNAT1 CL E G H2779616389Night blindness, congenital stationary, type 1g616389C4225345OMIM1101504393139330
HP:0000543HP:0000543Optic disc pallor2HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM1134816142810
HP:0000543HP:0000543Optic disc pallor2HK1 CL E G H3098617460Retinitis pigmentosa 79617460C4479526OMIM192294922142600
HP:0000543HP:0000543Optic disc pallor2HLA-A CL E G H3105179Macrothrombocytopenia progressive deafnessORPHA177184931142800
HP:0000543HP:0000543Optic disc pallor2IDH3B CL E G H3420612572Retinitis pigmentosa 46612572C2675496OMIM141595385604526
HP:0000543HP:0000543Optic disc pallor2IFT172 CL E G H26160616394Retinitis pigmentosa 71616394C4225342OMIM12757130391607386
HP:0000543HP:0000543Optic disc pallor2IMPDH1 CL E G H3614180105Retinitis pigmentosa 10180105C1867299OMIM1242826052146690
HP:0000543HP:0000543Optic disc pallor2ITM2B CL E G H9445616079Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities616079C4015146OMIM16686174603904
HP:0000543HP:0000543Optic disc pallor2KCNJ13 CL E G H3769614186Leber congenital amaurosis 16614186C3280062OMIM1101466259603208
HP:0000543HP:0000543Optic disc pallor2KLC2 CL E G H64837320406ORPHA133120716611729
HP:0000543HP:0000543Optic disc pallor2KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM133120716611729
HP:0000543HP:0000543Optic disc pallor2LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM1241826685604863
HP:0000543HP:0000543Optic disc pallor2LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM196228072615831
HP:0000543HP:0000543Optic disc pallor2MAK CL E G H4117614181Retinitis pigmentosa 62614181C3280042OMIM1242416816154235
HP:0000543HP:0000543Optic disc pallor2MERTK CL E G H10461613862Retinitis pigmentosa 38613862C3151228OMIM1894617027604705
HP:0000543HP:0000543Optic disc pallor2MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM123180916877608507
HP:0000543HP:0000543Optic disc pallor2MFN2 CL E G H9927601152Hereditary motor and sensory neuropathy with optic atrophy601152C0393807OMIM123180916877608507
HP:0000543HP:0000543Optic disc pallor2MT-ATP6 CL E G H4508644ORPHA17414516060
HP:0000543HP:0000543Optic disc pallor2MVK CL E G H4598260920Hyperimmunoglobulin D with periodic fever260920C0398691OMIM11833707530251170
HP:0000543HP:0000543Optic disc pallor2NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM117977711602694
HP:0000543HP:0000543Optic disc pallor2NMNAT1 CL E G H64802608553Leber congenital amaurosis 9608553C1837873OMIM17614417877608700
HP:0000543HP:0000543Optic disc pallor2NR2F1 CL E G H7025615722Bosch-Boonstra-Schaaf optic atrophy syndrome615722C3810363OMIM1341597975132890
HP:0000543HP:0000543Optic disc pallor2OSTM1 CL E G H28962259720Osteopetrosis, autosomal recessive 5259720C1968603OMIM1914621652607649
HP:0000543HP:0000543Optic disc pallor2PANK2 CL E G H80025216866ORPHA118225815894606157
HP:0000543HP:0000543Optic disc pallor2PDE6A CL E G H5145613810Retinitis pigmentosa 43613810C3151139OMIM1514938785180071
HP:0000543HP:0000543Optic disc pallor2PDE6G CL E G H5148613582Retinitis pigmentosa 57613582C3150821OMIM12708789180073
HP:0000543HP:0000543Optic disc pallor2PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11407828850602136
HP:0000543HP:0000543Optic disc pallor2PRCD CL E G H768206610599Retinitis pigmentosa 36610599C1864621OMIM1710032528610598
HP:0000543HP:0000543Optic disc pallor2PRPF4 CL E G H9128615922Retinitis pigmentosa 70615922C4014681OMIM1412617349607795
HP:0000543HP:0000543Optic disc pallor2RTN4IP1 CL E G H84816616732Optic atrophy 10 with or without ataxia, mental retardation, and seizures616732C4225227OMIM11216018647610502
HP:0000543HP:0000543Optic disc pallor2SNRNP200 CL E G H23020610359Retinitis pigmentosa 33610359C1835895OMIM13549130859601664
HP:0000543HP:0000543Optic disc pallor2TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM1110825382612988
HP:0000543HP:0000543Optic disc pallor2TRNT1 CL E G H51095616959Retinitis pigmentosa and erythrocytic microcytosis616959C4310776OMIM12634917341612907
HP:0000543HP:0000543Optic disc pallor2TUBGCP6 CL E G H85378251270Microcephaly with chorioretinopathy, autosomal recessive251270C3278481OMIM1790218127610053
HP:0000543HP:0000543Optic disc pallor2TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM17531012423602280
HP:0000543HP:0000543Optic disc pallor2TULP1 CL E G H7287600132Retinitis pigmentosa 14600132C1838603OMIM17531012423602280
HP:0000543HP:0000543Optic disc pallor2UBE3B CL E G H89910244450Kaufman oculocerebrofacial syndrome244450C1855663OMIM1256213478608047
HP:0000543HP:0000543Optic disc pallor2ZNF408 CL E G H79797616469Retinitis pigmentosa 72616469C4225315OMIM11421820041616454
HP:0000543HP:0000543Optic disc pallor2ZNF513 CL E G H130557613617Retinitis pigmentosa 58613617C3150879OMIM1318826498613598
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000543HP:0000543Optic disc pallor0C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM01727232614477
HP:0000543HP:0000543Optic disc pallor0CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM01856521393300110
HP:0000543HP:0000543Optic disc pallor0CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM01195591497300172
HP:0000543HP:0000543Optic disc pallor0COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051682291300885
HP:0000543HP:0000543Optic disc pallor0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM0101233668601513
HP:0000543HP:0000543Optic disc pallor0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM0211414576602368
HP:0000543HP:0000543Optic disc pallor0KCNC3 CL E G H374898768ORPHA0121176235176264
HP:0000543HP:0000543Optic disc pallor0MFSD8 CL E G H256471616170Macular dystrophy with central cone involvement616170C4015371OMIM04951428486611124
HP:0000543HP:0000543Optic disc pallor0MSTO1 CL E G H55154502423ORPHA085729678617619
HP:0000543HP:0000543Optic disc pallor0OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM0153668142606580
HP:0000543HP:0000543Optic disc pallor0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM0621511397605031
HP:0000543HP:0000543Optic disc pallor0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM05449119603131
HP:0000543HP:0000543Optic disc pallor0PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM017529115446606419
HP:0000543HP:0000543Optic disc pallor0RBP3 CL E G H5949615233Retinitis pigmentosa 66615233C3715216OMIM0185839921180290
HP:0000543HP:0000543Optic disc pallor0SLC52A2 CL E G H7958197229ORPHA02732330224607882
HP:0000543HP:0000543Optic disc pallor0SLC52A3 CL E G H11327897229ORPHA04431316187613350
HP:0000543HP:0000543Optic disc pallor0SPG7 CL E G H668799013ORPHA011162511237602783
HP:0000543HP:0000543Optic disc pallor0TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM01910912009190450
HP:0000543HP:0000543Optic disc pallor1C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM01727232614477
HP:0000543HP:0000543Optic disc pallor1CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM01856521393300110
HP:0000543HP:0000543Optic disc pallor1CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM01195591497300172
HP:0000543HP:0000543Optic disc pallor1COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051682291300885
HP:0000543HP:0000543Optic disc pallor1FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM0101233668601513
HP:0000543HP:0000543Optic disc pallor1GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM0211414576602368
HP:0000543HP:0000543Optic disc pallor1KCNC3 CL E G H374898768ORPHA0121176235176264
HP:0000543HP:0000543Optic disc pallor1MFSD8 CL E G H256471616170Macular dystrophy with central cone involvement616170C4015371OMIM04951428486611124
HP:0000543HP:0000543Optic disc pallor1MSTO1 CL E G H55154502423ORPHA085729678617619
HP:0000543HP:0000543Optic disc pallor1OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM0153668142606580
HP:0000543HP:0000543Optic disc pallor1PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM0621511397605031
HP:0000543HP:0000543Optic disc pallor1PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM05449119603131
HP:0000543HP:0000543Optic disc pallor1PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM017529115446606419
HP:0000543HP:0000543Optic disc pallor1RBP3 CL E G H5949615233Retinitis pigmentosa 66615233C3715216OMIM0185839921180290
HP:0000543HP:0000543Optic disc pallor1SLC52A2 CL E G H7958197229ORPHA02732330224607882
HP:0000543HP:0000543Optic disc pallor1SLC52A3 CL E G H11327897229ORPHA04431316187613350
HP:0000543HP:0000543Optic disc pallor1SPG7 CL E G H668799013ORPHA011162511237602783
HP:0000543HP:0000543Optic disc pallor1TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM01910912009190450
HP:0000543HP:0000543Optic disc pallor2C8orf37 CL E G H157657614500Cone-rod dystrophy 16614500C3281045OMIM01727232614477
HP:0000543HP:0000543Optic disc pallor2CACNA1F CL E G H778300476Cone-rod dystrophy X-linked 3300476C1845407OMIM01856521393300110
HP:0000543HP:0000543Optic disc pallor2CASK CL E G H8573300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia300749C2677903OMIM01195591497300172
HP:0000543HP:0000543Optic disc pallor2COX7B CL E G H1349300887Linear skin defects with multiple congenital anomalies 2300887C3550921OMIM051682291300885
HP:0000543HP:0000543Optic disc pallor2FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM0101233668601513
HP:0000543HP:0000543Optic disc pallor2GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM0211414576602368
HP:0000543HP:0000543Optic disc pallor2KCNC3 CL E G H374898768ORPHA0121176235176264
HP:0000543HP:0000543Optic disc pallor2MFSD8 CL E G H256471616170Macular dystrophy with central cone involvement616170C4015371OMIM04951428486611124
HP:0000543HP:0000543Optic disc pallor2MSTO1 CL E G H55154502423ORPHA085729678617619
HP:0000543HP:0000543Optic disc pallor2OPA3 CL E G H80207165300Optic atrophy and cataract, autosomal dominant165300C1833809OMIM0153668142606580
HP:0000543HP:0000543Optic disc pallor2PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM0621511397605031
HP:0000543HP:0000543Optic disc pallor2PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM05449119603131
HP:0000543HP:0000543Optic disc pallor2PRPF31 CL E G H26121600138Retinitis pigmentosa 11600138C1838601OMIM017529115446606419
HP:0000543HP:0000543Optic disc pallor2RBP3 CL E G H5949615233Retinitis pigmentosa 66615233C3715216OMIM0185839921180290
HP:0000543HP:0000543Optic disc pallor2SLC52A2 CL E G H7958197229ORPHA02732330224607882
HP:0000543HP:0000543Optic disc pallor2SLC52A3 CL E G H11327897229ORPHA04431316187613350
HP:0000543HP:0000543Optic disc pallor2SPG7 CL E G H668799013ORPHA011162511237602783
HP:0000543HP:0000543Optic disc pallor2TPI1 CL E G H7167615512Triosephosphate isomerase deficiency615512C1860808OMIM01910912009190450


Genes (80) :ABCA4 ACER3 AIPL1 ARHGEF18 ARHGEF2 ARL13B ARL2BP ATP6 ATXN1 BBS2 BEST1 BLOC1S3 C8ORF37 CACNA1F CASK CERKL CLCN7 CNNM4 COL18A1 COL4A1 COX7B CYP27A1 EYS FAM161A FGF12 FLRT1 GNAT1 GRID2 HARS HK1 HLA-A IDH3B IFT172 IMPDH1 ITM2B KCNC3 KCNJ13 KLC2 LRAT LYRM7 MAG MAK MERTK MFN2 MFSD8 MMP19 MSTO1 MT-ATP6 MVK NDUFS4 NMNAT1 NR2F1 OPA3 OSTM1 PANK2 PDE6A PDE6G PEX1 PLK4 PMPCB POMGNT1 PRCD PRPF31 PRPF4 RBP3 RTN4IP1 SCAPER SLC52A2 SLC52A3 SNRNP200 SPG7 TMEM126A TPI1 TRNT1 TUB TUBGCP6 TULP1 UBE3B ZNF408 ZNF513

Diseases (80) :601718 617762 604393 617433 617523 612291 615434 644 164400 616562 613194 614077 614500 300476 300749 608380 611490 217080 300887 213700 602772 606068 617166 320406 616389 616204 614504 617460 179 612572 616394 180105 616079 98768 614186 609541 613341 615838 614181 613862 617087 601152 616170 502423 260920 252010 608553 615722 165300 259720 216866 613810 613582 214100 616171 617954 610599 600138 615922 615233 616732 97229 610359 99013 612989 615512 616959 251270 613843 600132 244450 616469 613617 459056 267750 607595 611543 617123 618195 616188
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.