TaoMedAI/RareMedData huggingface dataset:
Gene: RHCE
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Spherocytosis (HP:0004444)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Jaundice (HP:0000952)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Miscarriage (HP:0005268)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: RH-NULL, AMORPH TYPE (OMIM:617970)
Gene: RHCE
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Tachycardia (HP:0001649)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Anisocytosis (HP:0011273)
Associated disease: RH-NULL, AMORPH TYPE (OMIM:617970)
Gene: RHCE
Phenotype: Anisocytosis (HP:0011273)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHCE
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: RH-NULL, AMORPH TYPE (OMIM:617970)
Gene: RHCE
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Hypochromia (HP:0032231)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Positive direct antiglobulin test (HP:0032366)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Kernicterus (HP:0001343)
Associated disease: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED (OMIM:619462)
Gene: RHD
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Tachypnea (HP:0002789)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED (OMIM:619462)
Gene: RHD
Phenotype: Reduced haptoglobin level (HP:0020181)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Macrocytic anemia (HP:0001972)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Spherocytosis (HP:0004444)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Jaundice (HP:0000952)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED (OMIM:619462)
Gene: RHD
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Fetal pericardial effusion (HP:0025671)
Associated disease: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED (OMIM:619462)
Gene: RHD
Phenotype: Fetal pleural effusion (HP:0025676)
Associated disease: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED (OMIM:619462)
Gene: RHD
Phenotype: Miscarriage (HP:0005268)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Tachycardia (HP:0001649)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Fetal ascites (HP:0001791)
Associated disease: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED (OMIM:619462)
Gene: RHD
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED (OMIM:619462)
Gene: RHD
Phenotype: Hypoxemia (HP:0012418)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED (OMIM:619462)
Gene: RHD
Phenotype: Anisocytosis (HP:0011273)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHD
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Gene: RHO
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Lenticonus (HP:0001142)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Visual field defect (HP:0001123)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Visual field defect (HP:0001123)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 (OMIM:610445)
Gene: RHO
Phenotype: Macular atrophy (HP:0007401)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Retinal flecks (HP:0012045)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RHO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RHO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 (OMIM:610445)
Gene: RHO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RHO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 (OMIM:610445)
Gene: RHO
Phenotype: Abnormal light- and dark-adapted electroretinogram (HP:0008323)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Yellow/white lesions of the retina (HP:0030506)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Blindness (HP:0000618)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Photophobia (HP:0000613)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Central scotoma (HP:0000603)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Nyctalopia (HP:0000662)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RHO
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 (OMIM:610445)
Gene: RHO
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Fundus albipunctatus (HP:0030642)
Associated disease: FUNDUS ALBIPUNCTATUS (OMIM:136880)
Gene: RHO
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Childhood onset (HP:0011463)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 (OMIM:610445)
Gene: RHO
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1 (OMIM:610445)
Gene: RHO
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Progressive visual field defects (HP:0007987)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Cataract (HP:0000518)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 4 (OMIM:613731)
Gene: RHO
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RPA; Retinitis punctata albescens (ORPHA:52427)
Gene: RHO
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: RHO
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: RHO
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RHO
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Visual field defect (HP:0001123)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OGUCHI DISEASE 2 (OMIM:613411)
Gene: GRK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: OGUCHI DISEASE 2 (OMIM:613411)
Gene: GRK1
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Diplopia (HP:0000651)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Mizuo phenomenon (HP:0030824)
Associated disease: OGUCHI DISEASE 2 (OMIM:613411)
Gene: GRK1
Phenotype: Mizuo phenomenon (HP:0030824)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GRK1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GRK1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Congenital stationary night blindness, Oguchi type; Oguchi syndrome; Oguchi disease (ORPHA:75382)
Gene: GRK1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)