TaoMedAI/RareMedData huggingface dataset:
Gene: CCN6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROM1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Retinal flecks (HP:0012045)
Associated disease: STARGARDT DISEASE 4 (OMIM:603786)
Gene: PROM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 12 (OMIM:612657)
Gene: PROM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MACULAR DYSTROPHY, RETINAL, 2 (OMIM:608051)
Gene: PROM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: STARGARDT DISEASE 4 (OMIM:603786)
Gene: PROM1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONE-ROD DYSTROPHY 12 (OMIM:612657)
Gene: PROM1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 12 (OMIM:612657)
Gene: PROM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: STARGARDT DISEASE 4 (OMIM:603786)
Gene: PROM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MACULAR DYSTROPHY, RETINAL, 2 (OMIM:608051)
Gene: PROM1
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: MACULAR DYSTROPHY, RETINAL, 2 (OMIM:608051)
Gene: PROM1
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Abnormal light- and dark-adapted electroretinogram (HP:0008323)
Associated disease: CONE-ROD DYSTROPHY 12 (OMIM:612657)
Gene: PROM1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Yellow/white lesions of the macula (HP:0030500)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Nystagmus (HP:0000639)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: STARGARDT DISEASE 4 (OMIM:603786)
Gene: PROM1
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Central scotoma (HP:0000603)
Associated disease: MACULAR DYSTROPHY, RETINAL, 2 (OMIM:608051)
Gene: PROM1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Central scotoma (HP:0000603)
Associated disease: CONE-ROD DYSTROPHY 12 (OMIM:612657)
Gene: PROM1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CONE-ROD DYSTROPHY 12 (OMIM:612657)
Gene: PROM1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: MACULAR DYSTROPHY, RETINAL, 2 (OMIM:608051)
Gene: PROM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Photopsia (HP:0030786)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Bull's eye maculopathy (HP:0011504)
Associated disease: CONE-ROD DYSTROPHY 12 (OMIM:612657)
Gene: PROM1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Abnormality of macular pigmentation (HP:0008002)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Aplasia/Hypoplasia of the macula (HP:0008059)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: MACULAR DYSTROPHY, RETINAL, 2 (OMIM:608051)
Gene: PROM1
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Granular macular appearance (HP:0007793)
Associated disease: MACULAR DYSTROPHY, RETINAL, 2 (OMIM:608051)
Gene: PROM1
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: MACULAR DYSTROPHY, RETINAL, 2 (OMIM:608051)
Gene: PROM1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Abnormal foveal morphology (HP:0000493)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Stargardt 1; Stargardt disease; Fundus flavimaculatus (ORPHA:827)
Gene: PROM1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Color vision defect (HP:0000551)
Associated disease: CONE-ROD DYSTROPHY 12 (OMIM:612657)
Gene: PROM1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 12 (OMIM:612657)
Gene: PROM1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PROM1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 41 (OMIM:612095)
Gene: PROM1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PROM1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PROM1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: ALDH1A2
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ALDH1A2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Coronal cleft vertebrae (HP:0003417)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Pulmonary artery hypoplasia (HP:0004971)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ALDH1A2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Antenatal onset (HP:0030674)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Diaphragmatic eventration (HP:0009110)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Aplasia of the left hemidiaphragm (HP:0009112)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ALDH1A2
Phenotype: 11 pairs of ribs (HP:0000878)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Aortopulmonary window (HP:0011604)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Low-set ears (HP:0000369)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ALDH1A2
Phenotype: Micrognathia (HP:0000347)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Short chin (HP:0000331)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ALDH1A2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Webbed neck (HP:0000465)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DIAPHRAGMATIC HERNIA 4, WITH CARDIOVASCULAR DEFECTS (OMIM:620025)
Gene: ALDH1A2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: PER3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (OMIM:616882)
Gene: PER3
Phenotype: Early chronotype (HP:0031873)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (OMIM:616882)
Gene: PER3
Phenotype: Depression (HP:0000716)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3 (OMIM:616882)
Gene: PER2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 (OMIM:604348)
Gene: PER2
Phenotype: Early chronotype (HP:0031873)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 (OMIM:604348)
Gene: PER2
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 (OMIM:604348)
Gene: PER2
Phenotype: Depression (HP:0000716)
Associated disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 (OMIM:604348)
Gene: SYNJ1
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Short stepped shuffling gait (HP:0007311)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Poor head control (HP:0002421)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Anarthria (HP:0002425)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Panic attack (HP:0025269)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Seizure (HP:0001250)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Seizure (HP:0001250)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Ataxia (HP:0001251)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Gastroparesis (HP:0002578)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
Gene: SYNJ1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)
Gene: SYNJ1
Phenotype: Spasticity (HP:0001257)
Associated disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Gene: SYNJ1
Phenotype: Spasticity (HP:0001257)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SYNJ1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Atypical juvenile parkinsonism (ORPHA:391411)
Gene: SYNJ1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 (OMIM:617389)