TaoMedAI/RareMedData huggingface dataset:
Gene: UROS
Phenotype: Neoplasm of the skin (HP:0008069)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Alopecia (HP:0001596)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Increased urinary porphobilinogen (HP:0012217)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Abnormality of the amniotic fluid (HP:0001560)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Vertebral compression fracture (HP:0002953)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Recurrent bacterial skin infections (HP:0005406)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Anisocytosis (HP:0011273)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Corneal scarring (HP:0000559)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: UROS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: PORPHYRIA, CONGENITAL ERYTHROPOIETIC (OMIM:263700)
Gene: UROS
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CEP; Congenital erythropoietic porphyria; Günther disease (ORPHA:79277)
Gene: USH2A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Visual field defect (HP:0001123)
Associated disease: RETINITIS PIGMENTOSA 39 (OMIM:613809)
Gene: USH2A
Phenotype: Ataxia (HP:0001251)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IIA (OMIM:276901)
Gene: USH2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 39 (OMIM:613809)
Gene: USH2A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: USHER SYNDROME, TYPE IIA (OMIM:276901)
Gene: USH2A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Microdontia (HP:0000691)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Carious teeth (HP:0000670)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Hallucinations (HP:0000738)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Anxiety (HP:0000739)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Depression (HP:0000716)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 39 (OMIM:613809)
Gene: USH2A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 39 (OMIM:613809)
Gene: USH2A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Hemianopia (HP:0012377)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Cataract (HP:0000518)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE IIA (OMIM:276901)
Gene: USH2A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 39 (OMIM:613809)
Gene: USH2A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: RETINITIS PIGMENTOSA 39 (OMIM:613809)
Gene: USH2A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 39 (OMIM:613809)
Gene: USH2A
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Scotoma (HP:0000575)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Visual loss (HP:0000572)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: USH2A
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: USH2A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USH2A
Phenotype: Myopia (HP:0000545)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: CLRN1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CLRN1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Visual field defect (HP:0001123)
Associated disease: USHER SYNDROME, TYPE IIIA (OMIM:276902)
Gene: CLRN1
Phenotype: Ataxia (HP:0001251)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IIIA (OMIM:276902)
Gene: CLRN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CLRN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 61 (OMIM:614180)
Gene: CLRN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CLRN1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 61 (OMIM:614180)
Gene: CLRN1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: USHER SYNDROME, TYPE IIIA (OMIM:276902)
Gene: CLRN1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CLRN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: USHER SYNDROME, TYPE IIIA (OMIM:276902)
Gene: CLRN1
Phenotype: Schizophrenia (HP:0100753)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: High hypermetropia (HP:0008499)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CLRN1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USHER SYNDROME, TYPE IIIA (OMIM:276902)
Gene: CLRN1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 61 (OMIM:614180)
Gene: CLRN1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Hallucinations (HP:0000738)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Anxiety (HP:0000739)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Depression (HP:0000716)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: USHER SYNDROME, TYPE IIIA (OMIM:276902)
Gene: CLRN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 61 (OMIM:614180)
Gene: CLRN1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 61 (OMIM:614180)
Gene: CLRN1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Abnormality of fundus pigmentation (HP:0031605)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CLRN1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USHER SYNDROME, TYPE IIIA (OMIM:276902)
Gene: CLRN1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Astigmatism (HP:0000483)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: USHER SYNDROME, TYPE IIIA (OMIM:276902)
Gene: CLRN1
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Cataract (HP:0000518)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 61 (OMIM:614180)
Gene: CLRN1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA (OMIM:268000)
Gene: CLRN1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE IIIA (OMIM:276902)
Gene: CLRN1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINITIS PIGMENTOSA 61 (OMIM:614180)
Gene: CLRN1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Scotoma (HP:0000575)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Visual loss (HP:0000572)
Associated disease: USH3; Usher syndrome type 3 (ORPHA:231183)
Gene: CLRN1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: CLRN1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLRN1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KDM6A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Marcus Gunn jaw winking synkinesis (HP:0025186)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Microtia (HP:0008551)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Motor delay (HP:0001270)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Seizure (HP:0001250)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Seizure (HP:0001250)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Seizure (HP:0001250)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hypotonia (HP:0001252)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Hypotonia (HP:0001252)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Dysarthria (HP:0001260)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Absent nipple (HP:0002561)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)