Human Phenotype Ontology 
Grandparent Node:
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Abnormality of vision (HP:0000504)help
Parent Node:
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Visual loss (HP:0000572)help
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Progressive visual loss (HP:0000529)help
Term ID: 529
Name: Progressive visual loss
Synonym: Decreased visual acuity, progressive; Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive
Definition: A reduction of previously attained ability to see.
Comments:
Reference: HP:0000529
Genes and Diseases:
 
       Child Nodes:
........expandSlow decrease in visual acuity (HP:0007924) help

 Sister Nodes: 
..expandNonprogressive visual loss (HP:0200068) 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:0000529HP:0000529Progressive visual loss0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0000529HP:0000529Progressive visual loss0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0000529HP:0000529Progressive visual loss0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0000529HP:0000529Progressive visual loss0APOE CL E G H348613OMIM:603075Macular degeneration, age-related, 139
HP:0000529HP:0000529Progressive visual loss0ARL3 CL E G H403694OMIM:618161JOUBERT SYNDROME 35; JBTS351
HP:0000529HP:0000529Progressive visual loss0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.150
HP:0000529HP:0000529Progressive visual loss0ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0ATXN7 CL E G H631410560OMIM:164500Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II.8
HP:0000529HP:0000529Progressive visual loss0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0000529HP:0000529Progressive visual loss0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0000529HP:0000529Progressive visual loss0BRAF CL E G H6731097ORPHA:54595Craniopharyngioma276
HP:0000529HP:0000529Progressive visual loss0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4.114
HP:0000529HP:0000529Progressive visual loss0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0000529HP:0000529Progressive visual loss0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0000529HP:0000529Progressive visual loss0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000529HP:0000529Progressive visual loss0CDHR1 CL E G H9221114550OMIM:613660CONE-ROD DYSTROPHY 15; CORD15147
HP:0000529HP:0000529Progressive visual loss0CEP164 CL E G H2289729182ORPHA:3156Senior-Loken syndromeHP:0040282 - Frequent34
HP:0000529HP:0000529Progressive visual loss0CEP290 CL E G H8018429021ORPHA:3156Senior-Loken syndromeHP:0040282 - Frequent342
HP:0000529HP:0000529Progressive visual loss0CFAP418 CL E G H15765727232OMIM:614500Cone-Rod dystrophy 16
HP:0000529HP:0000529Progressive visual loss0CFH CL E G H30754883OMIM:126700Basal laminar drusen.86
HP:0000529HP:0000529Progressive visual loss0CFHR1 CL E G H30784888OMIM:603075Macular degeneration, age-related, 1
HP:0000529HP:0000529Progressive visual loss0CFHR3 CL E G H1087816980OMIM:603075Macular degeneration, age-related, 1
HP:0000529HP:0000529Progressive visual loss0CFI CL E G H34265394OMIM:615439Macular degeneration, age-related, 13.57
HP:0000529HP:0000529Progressive visual loss0CHM CL E G H11211940ORPHA:180ChoroideremiaHP:0040282 - Frequent47
HP:0000529HP:0000529Progressive visual loss0CHM CL E G H11211940OMIM:303100CHOROIDEREMIA.47
HP:0000529HP:0000529Progressive visual loss0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0000529HP:0000529Progressive visual loss0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0000529HP:0000529Progressive visual loss0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5.141
HP:0000529HP:0000529Progressive visual loss0CLN6 CL E G H549822077OMIM:601780Ceroid lipofuscinosis, neuronal, 6.143
HP:0000529HP:0000529Progressive visual loss0CLN8 CL E G H20552079OMIM:600143Ceroid lipofuscinosis, neuronal, 8.111
HP:0000529HP:0000529Progressive visual loss0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0000529HP:0000529Progressive visual loss0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040281 - Very frequent129
HP:0000529HP:0000529Progressive visual loss0COL18A1 CL E G H807812195ORPHA:1571Knobloch syndromeHP:0040282 - Frequent177
HP:0000529HP:0000529Progressive visual loss0COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0CTNNB1 CL E G H14992514ORPHA:54595Craniopharyngioma88
HP:0000529HP:0000529Progressive visual loss0CYP4V2 CL E G H28544023198OMIM:210370Bietti crystalline corneoretinal dystrophy.126
HP:0000529HP:0000529Progressive visual loss0CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0DCN CL E G H16342705OMIM:610048Corneal dystrophy, congenital stromal.31
HP:0000529HP:0000529Progressive visual loss0DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0DNM1L CL E G H100592973OMIM:610708Optic atrophy 594
HP:0000529HP:0000529Progressive visual loss0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0000529HP:0000529Progressive visual loss0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0000529HP:0000529Progressive visual loss0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0000529HP:0000529Progressive visual loss0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0000529HP:0000529Progressive visual loss0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegeneration76
HP:0000529HP:0000529Progressive visual loss0GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophy24
HP:0000529HP:0000529Progressive visual loss0GUCA1A CL E G H29784678OMIM:602093Cone dystrophy 3.24
HP:0000529HP:0000529Progressive visual loss0GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophy124
HP:0000529HP:0000529Progressive visual loss0HMCN1 CL E G H8387219194OMIM:603075Macular degeneration, age-related, 1262
HP:0000529HP:0000529Progressive visual loss0IFT140 CL E G H974229077OMIM:617781Retinitis pigmentosa 80.148
HP:0000529HP:0000529Progressive visual loss0INVS CL E G H2713017870ORPHA:3156Senior-Loken syndromeHP:0040282 - Frequent106
HP:0000529HP:0000529Progressive visual loss0IQCB1 CL E G H965728949ORPHA:3156Senior-Loken syndromeHP:0040282 - Frequent61
HP:0000529HP:0000529Progressive visual loss0KARS1 CL E G H37356215OMIM:619196DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0000529HP:0000529Progressive visual loss0KIAA1549 CL E G H5767022219OMIM:618613RETINITIS PIGMENTOSA 86; RP86
HP:0000529HP:0000529Progressive visual loss0LRP2 CL E G H40366694OMIM:222448Donnai-Barrow syndrome289
HP:0000529HP:0000529Progressive visual loss0LRP2 CL E G H40366694ORPHA:2143Donnai-Barrow syndromeHP:0040282 - Frequent289
HP:0000529HP:0000529Progressive visual loss0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0000529HP:0000529Progressive visual loss0MERTK CL E G H104617027OMIM:613862Retinitis pigmentosa 38.75
HP:0000529HP:0000529Progressive visual loss0MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI203
HP:0000529HP:0000529Progressive visual loss0MTTP CL E G H45477467ORPHA:14AbetalipoproteinemiaHP:0040282 - Frequent81
HP:0000529HP:0000529Progressive visual loss0ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathy
HP:0000529HP:0000529Progressive visual loss0NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathy65
HP:0000529HP:0000529Progressive visual loss0NEU1 CL E G H47587758OMIM:256550Neuraminidase deficiency.43
HP:0000529HP:0000529Progressive visual loss0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0000529HP:0000529Progressive visual loss0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0000529HP:0000529Progressive visual loss0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0000529HP:0000529Progressive visual loss0NPHP1 CL E G H48677905ORPHA:3156Senior-Loken syndromeHP:0040282 - Frequent85
HP:0000529HP:0000529Progressive visual loss0NPHP3 CL E G H270317907ORPHA:3156Senior-Loken syndromeHP:0040282 - Frequent157
HP:0000529HP:0000529Progressive visual loss0NPHP4 CL E G H26173419104ORPHA:3156Senior-Loken syndromeHP:0040282 - Frequent220
HP:0000529HP:0000529Progressive visual loss0OAT CL E G H49428091ORPHA:414Gyrate atrophy of choroid and retinaHP:0040281 - Very frequent94
HP:0000529HP:0000529Progressive visual loss0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040281 - Very frequent214
HP:0000529HP:0000529Progressive visual loss0OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0000529HP:0000529Progressive visual loss0PAK2 CL E G H50628591ORPHA:1571Knobloch syndromeHP:0040282 - Frequent
HP:0000529HP:0000529Progressive visual loss0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0000529HP:0000529Progressive visual loss0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0000529HP:0000529Progressive visual loss0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040283 - Occasional72
HP:0000529HP:0000529Progressive visual loss0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040283 - Occasional45
HP:0000529HP:0000529Progressive visual loss0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0000529HP:0000529Progressive visual loss0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0000529HP:0000529Progressive visual loss0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0000529HP:0000529Progressive visual loss0PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophy159
HP:0000529HP:0000529Progressive visual loss0PRPH2 CL E G H59619942ORPHA:52427Retinitis punctata albescensHP:0040281 - Very frequent159
HP:0000529HP:0000529Progressive visual loss0PRPS1 CL E G H56319462OMIM:311070Charcot-Marie-Tooth disease, X-linked recessive, 549
HP:0000529HP:0000529Progressive visual loss0RAX2 CL E G H8483918286OMIM:610381Cone-Rod dystrophy 1152
HP:0000529HP:0000529Progressive visual loss0RDH11 CL E G H5110917964ORPHA:436245Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0000529HP:0000529Progressive visual loss0RDH5 CL E G H59599940ORPHA:52427Retinitis punctata albescensHP:0040281 - Very frequent32
HP:0000529HP:0000529Progressive visual loss0RHO CL E G H601010012ORPHA:52427Retinitis punctata albescensHP:0040281 - Very frequent107
HP:0000529HP:0000529Progressive visual loss0RLBP1 CL E G H601710024ORPHA:85128Bothnia retinal dystrophyHP:0040281 - Very frequent47
HP:0000529HP:0000529Progressive visual loss0RLBP1 CL E G H601710024ORPHA:52427Retinitis punctata albescensHP:0040281 - Very frequent47
HP:0000529HP:0000529Progressive visual loss0RP1L1 CL E G H9413715946OMIM:613587OCCULT MACULAR DYSTROPHY; OCMD284
HP:0000529HP:0000529Progressive visual loss0RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0000529HP:0000529Progressive visual loss0SDCCAG8 CL E G H1080610671ORPHA:3156Senior-Loken syndromeHP:0040282 - Frequent61
HP:0000529HP:0000529Progressive visual loss0SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 10.48
HP:0000529HP:0000529Progressive visual loss0SH3BP2 CL E G H645210825ORPHA:184CherubismHP:0040283 - Occasional177
HP:0000529HP:0000529Progressive visual loss0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0000529HP:0000529Progressive visual loss0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0000529HP:0000529Progressive visual loss0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0000529HP:0000529Progressive visual loss0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0000529HP:0000529Progressive visual loss0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0000529HP:0000529Progressive visual loss0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000529HP:0000529Progressive visual loss0SOST CL E G H5096413771OMIM:122860Craniodiaphyseal dysplasia, autosomal dominant.26
HP:0000529HP:0000529Progressive visual loss0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0000529HP:0000529Progressive visual loss0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0000529HP:0000529Progressive visual loss0TGFBI CL E G H704511771OMIM:122200Corneal dystrophy, lattice type I.58
HP:0000529HP:0000529Progressive visual loss0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type I58
HP:0000529HP:0000529Progressive visual loss0TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophy58
HP:0000529HP:0000529Progressive visual loss0TNFRSF11A CL E G H879211908OMIM:612301OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB772
HP:0000529HP:0000529Progressive visual loss0TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2.203
HP:0000529HP:0000529Progressive visual loss0TRAF3IP1 CL E G H2614617861ORPHA:3156Senior-Loken syndromeHP:0040282 - Frequent6
HP:0000529HP:0000529Progressive visual loss0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0000529HP:0000529Progressive visual loss0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0000529HP:0000529Progressive visual loss0TRIM44 CL E G H5476519016OMIM:617142Aniridia 3.1
HP:0000529HP:0000529Progressive visual loss0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0000529HP:0000529Progressive visual loss0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0000529HP:0000529Progressive visual loss0WDR19 CL E G H5772818340ORPHA:3156Senior-Loken syndromeHP:0040282 - Frequent95
HP:0000529HP:0000529Progressive visual loss0ZNF408 CL E G H7979720041OMIM:616468Exudative vitreoretinopathy 6.14
HP:0000529HP:0007924Slow decrease in visual acuity1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0000529HP:0007924Slow decrease in visual acuity1ATP6 CL E G H45087414ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0000529HP:0007924Slow decrease in visual acuity1BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent276
HP:0000529HP:0007924Slow decrease in visual acuity1COX1 CL E G H45127419ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1COX3 CL E G H45147422ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent88
HP:0000529HP:0007924Slow decrease in visual acuity1CYTB CL E G H45197427ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1DNAJC30 CL E G H8427716410ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1DNM1L CL E G H100592973OMIM:610708Optic atrophy 5.94
HP:0000529HP:0007924Slow decrease in visual acuity1FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0000529HP:0007924Slow decrease in visual acuity1GUCA1A CL E G H29784678ORPHA:75377Central areolar choroidal dystrophyHP:0040282 - Frequent24
HP:0000529HP:0007924Slow decrease in visual acuity1GUCY2D CL E G H30004689ORPHA:75377Central areolar choroidal dystrophyHP:0040282 - Frequent124
HP:0000529HP:0007924Slow decrease in visual acuity1MFN2 CL E G H992716877OMIM:601152Hereditary motor and sensory neuropathy VI.203
HP:0000529HP:0007924Slow decrease in visual acuity1ND1 CL E G H45357455ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1ND2 CL E G H45367456ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1ND4 CL E G H45387459ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1ND4L CL E G H45397460ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1ND5 CL E G H45407461ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1ND6 CL E G H45417462ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent
HP:0000529HP:0007924Slow decrease in visual acuity1NDUFS2 CL E G H47207708ORPHA:104Leber hereditary optic neuropathyHP:0040281 - Very frequent65
HP:0000529HP:0007924Slow decrease in visual acuity1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0000529HP:0007924Slow decrease in visual acuity1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0000529HP:0007924Slow decrease in visual acuity1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0000529HP:0007924Slow decrease in visual acuity1PRPH2 CL E G H59619942ORPHA:75377Central areolar choroidal dystrophyHP:0040282 - Frequent159
HP:0000529HP:0007924Slow decrease in visual acuity1RAX2 CL E G H8483918286OMIM:610381Cone-Rod dystrophy 11.52
HP:0000529HP:0007924Slow decrease in visual acuity1RP1L1 CL E G H9413715946OMIM:613587OCCULT MACULAR DYSTROPHY; OCMD284
HP:0000529HP:0007924Slow decrease in visual acuity1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0000529HP:0007924Slow decrease in visual acuity1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0000529HP:0007924Slow decrease in visual acuity1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0000529HP:0007924Slow decrease in visual acuity1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0000529HP:0007924Slow decrease in visual acuity1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0000529HP:0007924Slow decrease in visual acuity1TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040283 - Occasional58
HP:0000529HP:0007924Slow decrease in visual acuity1TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophyHP:0040281 - Very frequent58
HP:0000529HP:0007924Slow decrease in visual acuity1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional


Genes (108) :AGTPBP1 AIP AKT1 APOE ARL3 ATP1A3 ATP6 ATXN7 BAP1 BRAF C19ORF12 CARS2 CDH23 CDHR1 CEP164 CEP290 CFAP418 CFH CFHR1 CFHR3 CFI CHM CLN3 CLN5 CLN6 CLN8 COL17A1 COL18A1 COX1 COX3 CTNNB1 CYP4V2 CYTB DCN DNAJC30 DNM1L EPRS1 EXOSC3 EXOSC8 EXOSC9 FA2H GUCA1A GUCY2D HMCN1 IFT140 INVS IQCB1 KARS1 KIAA1549 LRP2 MEN1 MERTK MFN2 MTTP ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 NEU1 NF1 NF2 NPHP1 NPHP3 NPHP4 OAT OPA1 PAK2 PCYT1A PDGFB PEX7 PHYH PIK3CA PNPLA6 PPT1 PRPH2 PRPS1 RAX2 RDH11 RDH5 RHO RLBP1 RP1L1 RS1 SDCCAG8 SEMA4A SH3BP2 SLC25A46 SMARCB1 SMARCE1 SMO SON SOST SUFU TERT TGFBI TNFRSF11A TPP1 TRAF3IP1 TRAF7 TREX1 TRIM44 UCHL1 VRK1 WDR19 ZNF408

Diseases (74) :ORPHA:2254 ORPHA:2965 ORPHA:2495 OMIM:603075 OMIM:618161 OMIM:601338 ORPHA:104 OMIM:164500 OMIM:115150 ORPHA:54595 OMIM:614298 ORPHA:477774 ORPHA:91347 OMIM:613660 ORPHA:3156 OMIM:614500 OMIM:126700 OMIM:615439 ORPHA:180 OMIM:303100 OMIM:204200 ORPHA:228346 OMIM:256731 OMIM:601780 OMIM:600143 ORPHA:1947 ORPHA:293381 ORPHA:1571 OMIM:210370 OMIM:610048 OMIM:610708 OMIM:617951 ORPHA:329308 ORPHA:75377 OMIM:602093 OMIM:617781 OMIM:619196 OMIM:618613 OMIM:222448 ORPHA:2143 OMIM:613862 OMIM:601152 ORPHA:14 OMIM:256550 ORPHA:812 ORPHA:97685 ORPHA:414 ORPHA:1215 OMIM:210000 OMIM:608940 ORPHA:773 OMIM:215470 OMIM:256730 ORPHA:52427 OMIM:311070 OMIM:610381 ORPHA:436245 ORPHA:85128 OMIM:613587 OMIM:312700 OMIM:610283 ORPHA:184 OMIM:616505 ORPHA:500150 OMIM:122860 OMIM:122200 ORPHA:98964 ORPHA:98960 OMIM:612301 OMIM:204500 OMIM:192315 OMIM:617142 OMIM:615491 OMIM:616468
 

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