TaoMedAI/RareMedData huggingface dataset:
Gene: MT-ND4
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Concentric hypertrophic cardiomyopathy (HP:0005157)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Abnormal prosody (HP:0031434)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND4
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND4
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND4
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND4
Phenotype: Wolff-Parkinson-White syndrome (HP:0001716)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND4
Phenotype: Cardiac conduction abnormality (HP:0031546)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Infantile spasms (HP:0012469)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND4
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Aplasia/Hypoplasia of the cerebral white matter (HP:0012429)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND4
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND4
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND4
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4
Phenotype: Progressive external ophthalmoplegia (HP:0000590)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Visual loss (HP:0000572)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND4
Phenotype: Visual loss (HP:0000572)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Leber optic atrophy (HP:0001112)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Ataxia (HP:0001251)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Ataxia (HP:0001251)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Dystonia (HP:0001332)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Mitochondrial inheritance (HP:0001427)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Postural tremor (HP:0002174)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Postural tremor (HP:0002174)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Reduced contrast sensitivity (HP:0032036)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Retinal nerve fiber edema (HP:0020120)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Optic atrophy (HP:0000648)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Blurred vision (HP:0000622)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Central scotoma (HP:0000603)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Ventricular preexcitation (HP:0004309)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Myopathy (HP:0003198)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Myopathy (HP:0003198)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Retinal telangiectasia (HP:0007763)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Central retinal vessel vascular tortuosity (HP:0007768)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Centrocecal scotoma (HP:0000576)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND4L
Phenotype: Visual loss (HP:0000572)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND4L
Phenotype: Color vision defect (HP:0000551)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND5
Phenotype: Bulbar signs (HP:0002483)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND5
Phenotype: Leber optic atrophy (HP:0001112)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND5
Phenotype: Mixed demyelinating and axonal polyneuropathy (HP:0007327)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND5
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND5
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND5
Phenotype: Stroke-like episode (HP:0002401)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND5
Phenotype: Stuttering (HP:0025268)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Hypertonia (HP:0001276)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND5
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Motor delay (HP:0001270)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Hemiparesis (HP:0001269)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Hemiparesis (HP:0001269)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Seizure (HP:0001250)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Seizure (HP:0001250)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Ataxia (HP:0001251)
Associated disease: Leber hereditary optic neuropathy; Leber optic atrophy; LHON (ORPHA:104)
Gene: MT-ND5
Phenotype: Ataxia (HP:0001251)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND5
Phenotype: Ataxia (HP:0001251)
Associated disease: Myoclonus epilepsy associated with ragged-red fibres; Fukuhara syndrome; MERRF (ORPHA:551)
Gene: MT-ND5
Phenotype: Ataxia (HP:0001251)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Ataxia (HP:0001251)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Spasticity (HP:0001257)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND5
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES (OMIM:540000)
Gene: MT-ND5
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)
Gene: MT-ND5
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Abnormal renal tubule morphology (HP:0000091)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Proteinuria (HP:0000093)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Hepatic failure (HP:0001399)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes; MELAS; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes; Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (ORPHA:550)
Gene: MT-ND5
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Dystonia (HP:0001332)
Associated disease: MILS; Maternally-inherited infantile subacute necrotizing encephalopathy; Mitochondrial DNA-associated Leigh syndrome; mtDNA-associated Leigh syndrome; Maternally-inherited Leigh disease (ORPHA:255210)
Gene: MT-ND5
Phenotype: Dystonia (HP:0001332)
Associated disease: LEBER OPTIC ATROPHY (OMIM:535000)