TaoMedAI/RareMedData huggingface dataset:
Gene: FBXO11
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Short philtrum (HP:0000322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Triangular face (HP:0000325)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Pointed chin (HP:0000307)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Macrotia (HP:0000400)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Deeply set eye (HP:0000490)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Short foot (HP:0001773)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Broad foot (HP:0001769)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Pes planus (HP:0001763)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Prominent nose (HP:0000448)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Bulbous nose (HP:0000414)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Protruding ear (HP:0000411)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Prominent tragus (HP:0011271)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Long eyelashes (HP:0000527)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Sandal gap (HP:0001852)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Proptosis (HP:0000520)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Hypermetropia (HP:0000540)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FBXO11
Phenotype: Deep plantar creases (HP:0001869)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Gene: FHOD3
Phenotype: Stroke (HP:0001297)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Left atrial enlargement (HP:0031295)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Adult onset (HP:0003581)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Left ventricular outflow tract obstruction (HP:0032092)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Myocardial late gadolinium enhancement (HP:4000004)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Apical hypertrophic cardiomyopathy (HP:0031992)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Atrial fibrillation (HP:0005110)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Asymmetric septal hypertrophy (HP:0001670)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: FHOD3
Phenotype: Systolic anterior motion of the mitral valve (HP:0031656)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 (OMIM:619402)
Gene: OPA3
Phenotype: Abnormal thumb morphology (HP:0001172)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Posterior cortical cataract (HP:0010924)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Anterior subcapsular cataract (HP:0010923)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: OPA3
Phenotype: Areflexia (HP:0001284)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Ataxia (HP:0001251)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Ataxia (HP:0001251)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Ataxia (HP:0001251)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: OPA3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: OPA3
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: OPA3
Phenotype: Dysarthria (HP:0001260)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: OPA3
Phenotype: Spasticity (HP:0001257)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Tremor (HP:0001337)
Associated disease: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (OMIM:165300)
Gene: OPA3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (OMIM:165300)
Gene: OPA3
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (OMIM:165300)
Gene: OPA3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Limited wrist movement (HP:0006248)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: 3-Methylglutaric aciduria (HP:0003344)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Muscle spasm (HP:0003394)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Chorea (HP:0002072)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (OMIM:165300)
Gene: OPA3
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Deviation of the 2nd finger (HP:0009468)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Babinski sign (HP:0003487)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Postural tremor (HP:0002174)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Dyslexia (HP:0010522)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Paresthesia (HP:0003401)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: OPA3
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Extrapyramidal muscular rigidity (HP:0007076)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Resting tremor (HP:0002322)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Unsteady gait (HP:0002317)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: OPA3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Nystagmus (HP:0000639)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: OPA3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (OMIM:165300)
Gene: OPA3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Optic atrophy (HP:0000648)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Red-green dyschromatopsia (HP:0000642)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Blindness (HP:0000618)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Central scotoma (HP:0000603)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Anterior cortical cataract (HP:0007795)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (OMIM:165300)
Gene: OPA3
Phenotype: Cerulean cataract (HP:0007976)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Pes cavus (HP:0001761)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Cataract (HP:0000518)
Associated disease: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (OMIM:165300)
Gene: OPA3
Phenotype: Cataract (HP:0000518)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Visual impairment (HP:0000505)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE III (OMIM:258501)
Gene: OPA3
Phenotype: Visual impairment (HP:0000505)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: OPA3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Scotoma (HP:0000575)
Associated disease: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (OMIM:165300)
Gene: OPA3
Phenotype: Pain (HP:0012531)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Tritanomaly (HP:0000552)
Associated disease: OPA3, autosomal dominant; Autosomal dominant optic atrophy type 3; Autosomal dominant optic atrophy and cataract (ORPHA:67036)
Gene: OPA3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: OPTIC ATROPHY 3, AUTOSOMAL DOMINANT (OMIM:165300)
Gene: OPA3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: OPA3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SPG11
Phenotype: Bulbar signs (HP:0002483)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Bulbar signs (HP:0002483)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Anarthria (HP:0002425)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Hypertonia (HP:0001276)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)