TaoMedAI/RareMedData huggingface dataset:
Gene: SMC3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC3
Phenotype: Flat face (HP:0012368)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Low-set ears (HP:0000369)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Long philtrum (HP:0000343)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Long philtrum (HP:0000343)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC3
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Micrognathia (HP:0000347)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Micromelia (HP:0002983)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Short chin (HP:0000331)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Premature birth (HP:0001622)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC3
Phenotype: Blepharitis (HP:0000498)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Macrotia (HP:0000400)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Strabismus (HP:0000486)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Microcornea (HP:0000482)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Short neck (HP:0000470)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Short neck (HP:0000470)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Short foot (HP:0001773)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Short foot (HP:0001773)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Cataract (HP:0000518)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Ptosis (HP:0000508)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Ptosis (HP:0000508)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Laterally extended eyebrow (HP:0011230)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMC3
Phenotype: Talipes (HP:0001883)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: SMC3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMC3
Phenotype: Myopia (HP:0000545)
Associated disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Gene: SMC3
Phenotype: Myopia (HP:0000545)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: PRPF4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Macular degeneration (HP:0000608)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 70 (OMIM:615922)
Gene: PRPF4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 18 (OMIM:601414)
Gene: PRPF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 18 (OMIM:601414)
Gene: PRPF3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Retinal arteriolar constriction (HP:0008043)
Associated disease: RETINITIS PIGMENTOSA 18 (OMIM:601414)
Gene: PRPF3
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Progressive visual field defects (HP:0007987)
Associated disease: RETINITIS PIGMENTOSA 18 (OMIM:601414)
Gene: PRPF3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 18 (OMIM:601414)
Gene: PRPF3
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 18 (OMIM:601414)
Gene: PRPF3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRPF3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPF3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FAM50A
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Cleft palate (HP:0000175)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: X-linked inheritance (HP:0001417)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)
Gene: FAM50A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE (OMIM:300261)