TaoMedAI/RareMedData huggingface dataset:
Gene: LRPPRC
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Severe lactic acidosis (HP:0004900)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Ketosis (HP:0001946)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Hyperglycemia (HP:0003074)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Hypertension (HP:0000822)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Mitral atresia (HP:0011560)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Motor regression (HP:0033044)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Malar flattening (HP:0000272)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Abnormal reproductive system morphology (HP:0012243)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Microcephaly (HP:0000252)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Brachycephaly (HP:0000248)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Respiratory failure (HP:0002878)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Death in infancy (HP:0001522)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Increased hepatocellular lipid droplets (HP:0006565)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Ketonuria (HP:0002919)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Low-set ears (HP:0000369)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Micrognathia (HP:0000347)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Strabismus (HP:0000486)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: LRPPRC
Phenotype: EEG with abnormally slow frequencies (HP:0011203)
Associated disease: COX deficiency, French-Canadian type; Leigh syndrome, French-Canadian type; Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type; Cytochrome C oxidase deficiency, French-Canadian type; Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type; Leigh syndrome, Saguenay-Lac-Saint-Jean type; SLSJ-COX deficiency (ORPHA:70472)
Gene: LRPPRC
Phenotype: Esotropia (HP:0000565)
Associated disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5 (OMIM:220111)
Gene: OPTN
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLAUCOMA, PRIMARY OPEN ANGLE (OMIM:137760)
Gene: OPTN
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Open angle glaucoma (HP:0012108)
Associated disease: GLAUCOMA, PRIMARY OPEN ANGLE (OMIM:137760)
Gene: OPTN
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Middle age onset (HP:0003596)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Late onset (HP:0003584)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Fasciculations (HP:0002380)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Progressive (HP:0003676)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Young adult onset (HP:0011462)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Respiratory failure (HP:0002878)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: EMG: positive sharp waves (HP:0030007)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:613435)
Gene: OPTN
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: OPTN
Phenotype: Myopia (HP:0000545)
Associated disease: GLAUCOMA, PRIMARY OPEN ANGLE (OMIM:137760)
Gene: BCAP31
Phenotype: Tetraplegia (HP:0002445)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome; Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome (ORPHA:369939)
Gene: BCAP31
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION (OMIM:300475)
Gene: BCAP31
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)