Phenotype: Sensory neuropathy (HP:0000763)
Associated genes and diseases:
gene_symbol: CACNA1A
disease_id: OMIM:183086
disease_name: SPINOCEREBELLAR ATAXIA 6
gene_symbol: AIFM1
disease_id: ORPHA:101078
disease_name: X-linked Charcot-Marie-Tooth disease type 4
CMT4X
CMTX4
Cowchock syndrome
gene_symbol: AIFM1
disease_id: OMIM:310490
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: PNPT1
disease_id: ORPHA:101111
disease_name: Spinocerebellar ataxia type 25
SCA25
gene_symbol: PNPT1
disease_id: ORPHA:319514
disease_name: Combined oxidative phosphorylation defect type 13
COXPD13
gene_symbol: PNPT1
disease_id: OMIM:608703
disease_name: SPINOCEREBELLAR ATAXIA 25
gene_symbol: CTDP1
disease_id: ORPHA:48431
disease_name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
CCFDN
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: TNXB
disease_id: ORPHA:230839
disease_name: Classical-like Ehlers-Danlos syndrome type 1
Classical-like EDS type 1
Ehlers-Danlos syndrome due to tenascin-X deficiency
clEDS type 1
gene_symbol: DNMT1
disease_id: ORPHA:314404
disease_name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ADCA-DN syndrome
Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
gene_symbol: DNMT1
disease_id: OMIM:614116
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IE
gene_symbol: DNMT1
disease_id: OMIM:604121
disease_name: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
gene_symbol: PEX1
disease_id: ORPHA:3220
disease_name: Deafness-enamel hypoplasia-nail defects syndrome
Hearing loss-enamel hypoplasia-nail defects syndrome
Heimler syndrome
gene_symbol: PEX6
disease_id: ORPHA:3220
disease_name: Deafness-enamel hypoplasia-nail defects syndrome
Hearing loss-enamel hypoplasia-nail defects syndrome
Heimler syndrome
gene_symbol: PEX6
disease_id: ORPHA:95433
disease_name: Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spinocerebellar ataxia type 3
Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome
SCABD
SCAR3
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: GJB1
disease_id: ORPHA:101075
disease_name: X-linked Charcot-Marie-Tooth disease type 1
CMT1X
CMTX1
gene_symbol: GJB1
disease_id: OMIM:302800
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
gene_symbol: DNASE1L3
disease_id: ORPHA:36412
disease_name: Hypocomplementemic urticarial vasculitis
Anti-C1q vasculitis
Mac Duffie hypocomplementemic urticarial vasculitis
Mac Duffie syndrome
McDuffie hypocomplementemic urticarial vasculitis
McDuffie syndrome
gene_symbol: TGFB1
disease_id: ORPHA:1328
disease_name: Camurati-Engelmann disease
Progressive diaphyseal dysplasia
gene_symbol: ALS2
disease_id: ORPHA:247604
disease_name: Juvenile primary lateral sclerosis
JPLS
Juvenile PLS
gene_symbol: ERLIN2
disease_id: ORPHA:247604
disease_name: Juvenile primary lateral sclerosis
JPLS
Juvenile PLS
gene_symbol: COMP
disease_id: OMIM:177170
disease_name: PSEUDOACHONDROPLASIA
gene_symbol: RAB7A
disease_id: OMIM:600882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B
gene_symbol: PRPS1
disease_id: ORPHA:99014
disease_name: X-linked Charcot-Marie-Tooth disease type 5
CMT5X
CMTX5
gene_symbol: PLP1
disease_id: ORPHA:99015
disease_name: Spastic paraplegia type 2
SPG2
Spastic gait type 2
Spastic paraparesis type 2
X-linked spastic paraplegia type 2
gene_symbol: ATXN8OS
disease_id: OMIM:608768
disease_name: SPINOCEREBELLAR ATAXIA 8
gene_symbol: ATXN8
disease_id: OMIM:608768
disease_name: SPINOCEREBELLAR ATAXIA 8
gene_symbol: RAI1
disease_id: ORPHA:477817
disease_name: PMP22-RAI1 contiguous gene duplication syndrome
17p11.2p12 microduplication syndrome
Dup(17)(p11.2p12)
Trisomy 17p11.2-p12
Trisomy 17p11.2p12
Yuan-Harel-Lupski syndrome
gene_symbol: RNU7-1
disease_id: OMIM:619487
disease_name: AICARDI-GOUTIERES SYNDROME 9
gene_symbol: GSN
disease_id: ORPHA:85448
disease_name: AGel amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
gene_symbol: VPS13A
disease_id: OMIM:200150
disease_name: CHOREOACANTHOCYTOSIS
gene_symbol: ARL6IP1
disease_id: OMIM:615685
disease_name: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE
gene_symbol: AMACR
disease_id: ORPHA:79095
disease_name: Congenital bile acid synthesis defect type 4
2-methylacyl-CoA racemase deficiency
AMACR deficiency
Alpha-methyl-acyl-CoA racemase deficiency
BASD4
Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
gene_symbol: TFG
disease_id: OMIM:604484
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: CLCN6
disease_id: OMIM:619173
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: ALAD
disease_id: ORPHA:100924
disease_name: Porphyria due to ALA dehydratase deficiency
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: FXN
disease_id: OMIM:229300
disease_name: FRIEDREICH ATAXIA
gene_symbol: CRAT
disease_id: OMIM:617917
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
gene_symbol: REPS1
disease_id: OMIM:617916
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
gene_symbol: MT-ATP6
disease_id: ORPHA:644
disease_name: NARP syndrome
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
gene_symbol: MT-ATP6
disease_id: OMIM:551500
disease_name: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
gene_symbol: PPOX
disease_id: OMIM:620483
disease_name: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: TIMM8A
disease_id: ORPHA:52368
disease_name: Mohr-Tranebjaerg syndrome
DDON syndrome
Deafness-dystonia-optic neuronopathy syndrome
Hearing loss-dystonia-optic neuronopathy syndrome
gene_symbol: TTPA
disease_id: ORPHA:96
disease_name: Ataxia with vitamin E deficiency
AVED
Ataxia with isolated vitamin E deficiency
Familial isolated vitamin E deficiency
Friedreich-like ataxia
Isolated vitamin E deficiency
gene_symbol: ZFHX3
disease_id: OMIM:600223
disease_name: SPINOCEREBELLAR ATAXIA 4
gene_symbol: TOP3A
disease_id: OMIM:618098
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
gene_symbol: DST
disease_id: OMIM:614653
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
gene_symbol: TDP1
disease_id: OMIM:607250
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1
gene_symbol: AR
disease_id: OMIM:313200
disease_name: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
gene_symbol: PI4K2A
disease_id: OMIM:620732
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: NF2
disease_id: ORPHA:637
disease_name: Full NF2-related schwannomatosis
Full NF2
Full neurofibromatosis type 2
Nonmosaic NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: NAGA
disease_id: ORPHA:79279
disease_name: Alpha-N-acetylgalactosaminidase deficiency type 1
NAGA deficiency type 1
Schindler disease type 1
gene_symbol: SLC12A6
disease_id: OMIM:218000
disease_name: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
gene_symbol: OPA1
disease_id: ORPHA:1215
disease_name: Autosomal dominant optic atrophy plus syndrome
ADOA+
DOA+
Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Optic atrophy-hearing loss-polyneuropathy-myopathy syndrome
gene_symbol: PLD3
disease_id: OMIM:617770
disease_name: SPINOCEREBELLAR ATAXIA 46
gene_symbol: HINT1
disease_id: ORPHA:324442
disease_name: Autosomal recessive axonal neuropathy with neuromyotonia
ARAN-NM
ARCMT2-NM
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
gene_symbol: HINT1
disease_id: OMIM:137200
disease_name: NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
gene_symbol: SYNE1
disease_id: ORPHA:88644
disease_name: Autosomal recessive ataxia, Beauce type
ARCA1
Autosomal recessive cerebellar ataxia type 1
SCAR8
gene_symbol: ATL3
disease_id: OMIM:615632
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
gene_symbol: CCT5
disease_id: ORPHA:139578
disease_name: Mutilating hereditary sensory neuropathy with spastic paraplegia
Mutilating HSAN with spastic paraplegia
gene_symbol: PTRHD1
disease_id: OMIM:620747
disease_name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
gene_symbol: NEFH
disease_id: OMIM:616924
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
gene_symbol: NEUROG1
disease_id: OMIM:620469
disease_name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
gene_symbol: VRK1
disease_id: OMIM:620542
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 10
gene_symbol: POLG
disease_id: OMIM:258450
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
gene_symbol: POLG
disease_id: ORPHA:94125
disease_name: Recessive mitochondrial ataxia syndrome
MIRAS
gene_symbol: POLG
disease_id: ORPHA:254881
disease_name: Spinocerebellar ataxia with epilepsy
MSCAE
Mitochondrial spinocerebellar ataxia with epilepsy
SCAE
gene_symbol: POLG
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: POLG
disease_id: OMIM:157640
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: KLC2
disease_id: OMIM:609541
disease_name: SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY
gene_symbol: FGF14
disease_id: ORPHA:98764
disease_name: Spinocerebellar ataxia type 27A
SCA27A
gene_symbol: PLEKHG4
disease_id: ORPHA:98765
disease_name: Spinocerebellar ataxia type 4
SCA4
gene_symbol: GJC2
disease_id: OMIM:608804
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 2
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: HEXB
disease_id: ORPHA:309169
disease_name: Sandhoff disease, adult form
Beta-hexosaminidase subunit beta deficiency, adult form
GM2 gangliosidosis, Sandhoff variant, adult form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form
gene_symbol: SHMT2
disease_id: OMIM:619121
disease_name: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
gene_symbol: PIEZO2
disease_id: OMIM:617146
disease_name: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
gene_symbol: TWNK
disease_id: OMIM:616138
disease_name: PERRAULT SYNDROME 5
gene_symbol: TWNK
disease_id: OMIM:271245
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
gene_symbol: TWNK
disease_id: OMIM:609286
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: MORC2
disease_id: ORPHA:466768
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
CMT2Z
gene_symbol: SAMD9L
disease_id: OMIM:619806
disease_name: SPINOCEREBELLAR ATAXIA 49
gene_symbol: HNRNPA1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: VCP
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: HNRNPA2B1
disease_id: ORPHA:52430
disease_name: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD
Limb-girdle muscular dystrophy with Paget disease of bone
Pagetoid amyotrophic lateral sclerosis
Pagetoid neuroskeletal syndrome
gene_symbol: ACOX1
disease_id: OMIM:618960
disease_name: MITCHELL SYNDROME
gene_symbol: COX20
disease_id: OMIM:619054
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: DGUOK
disease_id: ORPHA:329314
disease_name: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
gene_symbol: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
gene_symbol: CAPN1
disease_id: OMIM:616907
disease_name: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
gene_symbol: GAN
disease_id: OMIM:256850
disease_name: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
gene_symbol: ATP13A2
disease_id: ORPHA:513436
disease_name: Autosomal recessive spastic paraplegia type 78
SPG78
gene_symbol: DHX16
disease_id: OMIM:618733
disease_name: NEUROMUSCULAR OCULOAUDITORY SYNDROME
gene_symbol: PRICKLE1
disease_id: OMIM:612437
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B
gene_symbol: LMNA
disease_id: ORPHA:98856
disease_name: Charcot-Marie-Tooth disease type 2B1
AR-CMT2B1
Autosomal recessive Charcot-Marie-Tooth disease type 2B1
Autosomal recessive axonal CMT4C1
gene_symbol: MFN2
disease_id: ORPHA:99947
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT2A2
gene_symbol: SPTLC1
disease_id: OMIM:162400
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
gene_symbol: SPTLC2
disease_id: OMIM:613640
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
gene_symbol: RNF170
disease_id: OMIM:608984
disease_name: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT
gene_symbol: DMD
disease_id: ORPHA:206546
disease_name: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
gene_symbol: DHH
disease_id: ORPHA:168563
disease_name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
gene_symbol: HK1
disease_id: ORPHA:99953
disease_name: Charcot-Marie-Tooth disease type 4G
CMT4G
HMSNR
Hereditary motor and sensory neuropathy, Russe Type
gene_symbol: ATL1
disease_id: OMIM:613708
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
gene_symbol: IBA57
disease_id: ORPHA:468661
disease_name: Autosomal recessive spastic paraplegia type 74
SPG74
gene_symbol: MT-TF
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TQ
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-CO3
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TW
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND5
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND6
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-ND4
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TL1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS1
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TS2
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: MT-TH
disease_id: ORPHA:550
disease_name: MELAS
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
gene_symbol: HADHB
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: HADHA
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD