TaoMedAI/RareMedData huggingface dataset:
Gene: RBP3
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RBP3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Gene: RBP3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Decreased retinol-binding protein level (HP:0031032)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 (OMIM:616428)
Gene: RBP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Microcoria (HP:0025492)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 (OMIM:616428)
Gene: RBP4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Optic pit (HP:0034567)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 (OMIM:616428)
Gene: RBP4
Phenotype: Peripheral retinal atrophy (HP:0200070)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Iris coloboma (HP:0000612)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 (OMIM:616428)
Gene: RBP4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Comedonal acne (HP:0040137)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Microcornea (HP:0000482)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Anophthalmia (HP:0000528)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 (OMIM:616428)
Gene: RBP4
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 (OMIM:616428)
Gene: RBP4
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10 (OMIM:616428)
Gene: RBP4
Phenotype: Tritanomaly (HP:0000552)
Associated disease: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME (OMIM:615147)
Gene: RBP4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RBP4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPN1LW
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1LW
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1LW
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1LW
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: COLORBLINDNESS, PARTIAL, PROTAN SERIES (OMIM:303900)
Gene: OPN1LW
Phenotype: Protanomaly (HP:0200018)
Associated disease: COLORBLINDNESS, PARTIAL, PROTAN SERIES (OMIM:303900)
Gene: OPN1LW
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Nystagmus (HP:0000639)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Nystagmus (HP:0000639)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1LW
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Photophobia (HP:0000613)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1LW
Phenotype: Photophobia (HP:0000613)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Reduced OCT-measured foveal thickness (HP:0030619)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1LW
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Eccentric visual fixation (HP:0025549)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Blue cone monochromacy (HP:0007939)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Blue cone monochromacy (HP:0007939)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1LW
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Visual impairment (HP:0000505)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Visual impairment (HP:0000505)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: OPN1LW
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Color vision defect (HP:0000551)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: OPN1LW
Phenotype: Myopia (HP:0000545)
Associated disease: Atypical X-linked achromatopsia; S cone monochromatism; X-linked incomplete achromatopsia; Color blindness, blue monocone monochromatic type; S cone monochromacy; Blue cone monochromatism; Blue cone monochromacy (ORPHA:16)
Gene: OPN1LW
Phenotype: Myopia (HP:0000545)
Associated disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Gene: RDH5
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Lenticonus (HP:0001142)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Retinal flecks (HP:0012045)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RDH5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RDH5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RDH5
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Abnormal light- and dark-adapted electroretinogram (HP:0008323)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Yellow/white lesions of the retina (HP:0030506)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Photophobia (HP:0000613)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Central scotoma (HP:0000603)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RDH5
Phenotype: Fundus albipunctatus (HP:0030642)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RDH5
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Progressive visual field defects (HP:0007987)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RDH5
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RDH5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Dark choroid (HP:0025148)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: PRPH2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Lenticonus (HP:0001142)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Choroideremia (HP:0001139)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: PRPH2
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Visual field defect (HP:0001123)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: PRPH2
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Macular atrophy (HP:0007401)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Macular atrophy (HP:0007401)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Retinal flecks (HP:0012045)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: PRPH2
Phenotype: Full-thickness macular hole (HP:0031152)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: PRPH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: PRPH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 7 (OMIM:608133)
Gene: PRPH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: PRPH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 (OMIM:613105)
Gene: PRPH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Vitelliform-like macular lesions (HP:0007677)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Vitelliform-like macular lesions (HP:0007677)
Associated disease: AVMD; Adult-onset foveomacular dystrophy; Adult-onset vitelliform macular dystrophy; AOFMD; Pseudo-Best disease; Gass disease; Adult-onset foveomacular vitelliform dystrophy; Pseudo-vitelliform macular dystrophy; Adult-onset foveomacular dystrophy with choroidal neovascularization (ORPHA:99000)
Gene: PRPH2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MACULAR DYSTROPHY, VITELLIFORM, 3 (OMIM:608161)
Gene: PRPH2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: PRPH2
Phenotype: Abnormal light- and dark-adapted electroretinogram (HP:0008323)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPH2
Phenotype: Yellow/white lesions of the macula (HP:0030500)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Yellow/white lesions of the retina (HP:0030506)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: PRPH2
Phenotype: Yellow/white lesions of the retina (HP:0030506)
Associated disease: MACULAR DYSTROPHY, PATTERNED, 1 (OMIM:169150)
Gene: PRPH2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PRPH2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PRPH2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPH2
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)