TaoMedAI/RareMedData huggingface dataset:
Gene: SLC5A7
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Neuropathic spinal arthropathy (HP:0008443)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Nystagmus (HP:0000639)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Diplopia (HP:0000651)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Nasal regurgitation (HP:0011469)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Narrow jaw (HP:0012801)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Choking episodes (HP:0030842)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Stridor (HP:0010307)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Stridor (HP:0010307)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: EMG: impaired neuromuscular transmission (HP:0100285)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Cyanosis (HP:0000961)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Abnormal motor nerve conduction velocity (HP:0040131)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Muscle fiber atrophy (HP:0100295)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Long face (HP:0000276)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Kyphosis (HP:0002808)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: High palate (HP:0000218)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Increased jitter at single fiber EMG (HP:0030205)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Dysphonia (HP:0001618)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Dysphonia (HP:0001618)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Weak cry (HP:0001612)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Low-set ears (HP:0000369)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Pes planus (HP:0001763)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Pes cavus (HP:0001761)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Ptosis (HP:0000508)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Esotropia (HP:0000565)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: HPSE2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Hydroureter (HP:0000072)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: HPSE2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: HPSE2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: HPSE2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: HPSE2
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: HPSE2
Phenotype: Constipation (HP:0002019)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Constipation (HP:0002019)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: HPSE2
Phenotype: Urethral valve (HP:0010481)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: HPSE2
Phenotype: Polydipsia (HP:0001959)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: HPSE2
Phenotype: Enuresis (HP:0000805)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: HPSE2
Phenotype: Urethral obstruction (HP:0000796)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Urethral obstruction (HP:0000796)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: HPSE2
Phenotype: Hypertension (HP:0000822)
Associated disease: Partial facial palsy with urinary abnormalities; Urofacial syndrome; Ochoa facial syndrome; Inverted smile-neurogenic bladder syndrome; Hydronephrosis-inverted smile syndrome; Ochoa syndrome (ORPHA:2704)
Gene: HPSE2
Phenotype: Abnormal facial expression (HP:0005346)
Associated disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Gene: NYX
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Hemeralopia (HP:0012047)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
Gene: NYX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
Gene: NYX
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
Gene: NYX
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
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: NYX
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Childhood onset (HP:0011463)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
Gene: NYX
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: High myopia (HP:0011003)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A (OMIM:310500)
Gene: NYX
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: NYX
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NYX
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: AGBL5
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Gene: AGBL5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Gene: AGBL5
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Mixed astigmatism (HP:0031790)
Associated disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Gene: AGBL5
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Gene: AGBL5
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Pallor (HP:0000980)
Associated disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Gene: AGBL5
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Gene: AGBL5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Gene: AGBL5
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Gene: AGBL5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Gene: AGBL5
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: AGBL5
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AGBL5
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 75 (OMIM:617023)
Gene: ELAC2
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Death in childhood (HP:0003819)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Infantile onset (HP:0003593)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Death in infancy (HP:0001522)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)
Gene: ELAC2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 17 (OMIM:615440)