Phenotype: Peripheral neuropathy (HP:0009830)
Associated genes and diseases:
gene_symbol: CACNA1A
disease_id: OMIM:183086
disease_name: SPINOCEREBELLAR ATAXIA 6
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: 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: 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: 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: 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: 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: 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: PI4K2A
disease_id: OMIM:620732
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: UQCRC1
disease_id: OMIM:619279
disease_name: PARKINSONISM WITH POLYNEUROPATHY
gene_symbol: CYP7B1
disease_id: ORPHA:100986
disease_name: Autosomal recessive spastic paraplegia type 5A
SPG5A
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B
gene_symbol: SYNE1
disease_id: ORPHA:88644
disease_name: Autosomal recessive ataxia, Beauce type
ARCA1
Autosomal recessive cerebellar ataxia type 1
SCAR8
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: PSMC3
disease_id: OMIM:619354
disease_name: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: DHH
disease_id: OMIM:607080
disease_name: 46,XY GONADAL DYSGENESIS WITH MINIFASCICULAR NEUROPATHY
gene_symbol: DHH
disease_id: ORPHA:168563
disease_name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: ATXN10
disease_id: OMIM:603516
disease_name: SPINOCEREBELLAR ATAXIA 10
gene_symbol: COQ7
disease_id: OMIM:616733
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 8
gene_symbol: EDNRB
disease_id: OMIM:277580
disease_name: WAARDENBURG SYNDROME, TYPE 4A
gene_symbol: GRM1
disease_id: OMIM:614831
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
gene_symbol: GRM1
disease_id: ORPHA:324262
disease_name: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
Autosomal recessive spinocerebellar ataxia type 13
SCAR13
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: LITAF
disease_id: OMIM:601098
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C
gene_symbol: CD59
disease_id: OMIM:612300
disease_name: HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY
gene_symbol: NAGS
disease_id: ORPHA:927
disease_name: Hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS deficiency
gene_symbol: DARS2
disease_id: ORPHA:137898
disease_name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
LBSL
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
gene_symbol: PDYN
disease_id: OMIM:610245
disease_name: SPINOCEREBELLAR ATAXIA 23
gene_symbol: PEX11B
disease_id: OMIM:614920
disease_name: PEROXISOME BIOGENESIS DISORDER 14B
gene_symbol: HLA-DQA1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: HLA-DQB1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
gene_symbol: DGUOK
disease_id: OMIM:251880
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
gene_symbol: TMEM70
disease_id: OMIM:614052
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: B2M
disease_id: OMIM:620659
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6
gene_symbol: HYCC1
disease_id: OMIM:610532
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 5
gene_symbol: SETX
disease_id: OMIM:606002
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
gene_symbol: ARSI
disease_id: ORPHA:401815
disease_name: Autosomal recessive spastic paraplegia type 66
SPG66
gene_symbol: PLD3
disease_id: OMIM:617770
disease_name: SPINOCEREBELLAR ATAXIA 46
gene_symbol: ATL3
disease_id: OMIM:615632
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
gene_symbol: PTRHD1
disease_id: OMIM:620747
disease_name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
gene_symbol: NEUROG1
disease_id: OMIM:620469
disease_name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
gene_symbol: FGF14
disease_id: ORPHA:98764
disease_name: Spinocerebellar ataxia type 27A
SCA27A
gene_symbol: GJC2
disease_id: OMIM:608804
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 2
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: 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: 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: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
gene_symbol: GAN
disease_id: OMIM:256850
disease_name: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE
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: SPTLC1
disease_id: OMIM:162400
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA
gene_symbol: DMD
disease_id: ORPHA:206546
disease_name: Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
gene_symbol: PIGB
disease_id: OMIM:618580
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80
gene_symbol: FLRT1
disease_id: ORPHA:320406
disease_name: Spastic paraplegia-optic atrophy-neuropathy syndrome
SPOAN
gene_symbol: KLC2
disease_id: ORPHA:320406
disease_name: Spastic paraplegia-optic atrophy-neuropathy syndrome
SPOAN
gene_symbol: DDHD1
disease_id: OMIM:609340
disease_name: SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE
gene_symbol: DCAF8
disease_id: OMIM:610100
disease_name: GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT
gene_symbol: GBA2
disease_id: ORPHA:352641
disease_name: Autosomal recessive cerebellar ataxia with late-onset spasticity
Autosomal recessive cerebellar ataxia due to GBA2 deficiency
gene_symbol: GBA2
disease_id: ORPHA:320391
disease_name: Autosomal recessive spastic paraplegia type 46
SPG46
gene_symbol: BRAF
disease_id: OMIM:115150
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 1
gene_symbol: ABCA1
disease_id: OMIM:205400
disease_name: TANGIER DISEASE
gene_symbol: ABCA1
disease_id: ORPHA:31150
disease_name: Tangier disease
ATP-binding cassette transporter A1 deficiency
Analphalipoproteinemia
gene_symbol: PLXNA1
disease_id: OMIM:619955
disease_name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
gene_symbol: FBLN5
disease_id: OMIM:608895
disease_name: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
gene_symbol: BIN1
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: MTMR14
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: MYF6
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: DNM2
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: RYR1
disease_id: ORPHA:169189
disease_name: Autosomal dominant centronuclear myopathy
AD-CNM
gene_symbol: IBA57
disease_id: ORPHA:468661
disease_name: Autosomal recessive spastic paraplegia type 74
SPG74
gene_symbol: IBA57
disease_id: OMIM:616451
disease_name: SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE
gene_symbol: VPS13D
disease_id: OMIM:607317
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
gene_symbol: RNF170
disease_id: OMIM:619686
disease_name: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE
gene_symbol: ATP1A3
disease_id: OMIM:601338
disease_name: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS
gene_symbol: RNF220
disease_id: OMIM:619688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY
gene_symbol: TBCE
disease_id: ORPHA:496756
disease_name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
gene_symbol: TBCE
disease_id: OMIM:617207
disease_name: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
gene_symbol: AMPD2
disease_id: OMIM:615809
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 9
gene_symbol: STAT3
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: GCK
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: PDX1
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: INS
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: MCM3AP
disease_id: OMIM:618124
disease_name: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: ATP11A
disease_id: OMIM:619851
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 24
gene_symbol: TRIM2
disease_id: OMIM:615490
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R
gene_symbol: TUBB3
disease_id: OMIM:600638
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
gene_symbol: SH3TC2
disease_id: OMIM:613353
disease_name: MONONEUROPATHY OF THE MEDIAN NERVE, MILD
gene_symbol: SLC25A46
disease_id: OMIM:616505
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB, WITH OPTIC ATROPHY
gene_symbol: SLC25A46
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: ASCC1
disease_id: OMIM:616867
disease_name: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2
gene_symbol: TRIP4
disease_id: OMIM:616866
disease_name: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1
gene_symbol: PLOD1
disease_id: ORPHA:1900
disease_name: Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Cutis hyperelastica
EDS VIA
Ehlers-Danlos syndrome type 6A
Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency
Lysyl hydroxylase-deficient EDS
Ocular-scoliotic EDS
kEDS-PLOD1
gene_symbol: AFG3L2
disease_id: ORPHA:313772
disease_name: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Autosomal recessive spastic ataxia type 5
SPAX5
gene_symbol: MICU1
disease_id: ORPHA:401768
disease_name: Proximal myopathy with extrapyramidal signs
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: ATP13A2
disease_id: ORPHA:513436
disease_name: Autosomal recessive spastic paraplegia type 78
SPG78
gene_symbol: ATP13A2
disease_id: OMIM:617225
disease_name: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
gene_symbol: ERBB2
disease_id: OMIM:619465
disease_name: VISCERAL NEUROPATHY, FAMILIAL, 2, AUTOSOMAL RECESSIVE
gene_symbol: ATAD3A
disease_id: OMIM:618810
disease_name: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL
gene_symbol: ATAD3A
disease_id: ORPHA:496790
disease_name: Ocular anomalies-axonal neuropathy-developmental delay syndrome
Harel-Yoon syndrome
gene_symbol: ATAD3A
disease_id: OMIM:617183
disease_name: HAREL-YOON SYNDROME
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: IFRD1
disease_id: ORPHA:98771
disease_name: Spinocerebellar ataxia type 18
SCA18
gene_symbol: KARS1
disease_id: OMIM:619196
disease_name: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
gene_symbol: CYP2U1
disease_id: OMIM:615030
disease_name: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE
gene_symbol: CYP2U1
disease_id: ORPHA:320411
disease_name: Autosomal recessive spastic paraplegia type 56
SPG56
gene_symbol: COA7
disease_id: OMIM:618387
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3
gene_symbol: VCP
disease_id: ORPHA:435387
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
CMT2 due to VCP mutation
CMT2Y
gene_symbol: KRAS
disease_id: OMIM:615278
disease_name: CARDIOFACIOCUTANEOUS SYNDROME 2
gene_symbol: DHX9
disease_id: OMIM:620988
disease_name: OMIM:620988
gene_symbol: EXOSC8
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: EXOSC9
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: AGTPBP1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: EXOSC3
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: VRK1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: UCHL1
disease_id: OMIM:620221
disease_name: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA
gene_symbol: ZFYVE26
disease_id: OMIM:270700
disease_name: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
gene_symbol: ZFYVE26
disease_id: ORPHA:100996
disease_name: Autosomal recessive spastic paraplegia type 15
Hereditary spastic paraparesis type 15
Kjellin syndrome
SPG15
Spastic paraplegia-retinal degeneration syndrome
gene_symbol: MME
disease_id: ORPHA:497764
disease_name: Spinocerebellar ataxia type 43
SCA43
gene_symbol: KCNJ10
disease_id: ORPHA:199343
disease_name: EAST syndrome
Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
SeSAME syndrome
Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome
Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome
gene_symbol: KLHL9
disease_id: ORPHA:399081
disease_name: KLHL9-related early-onset distal myopathy
gene_symbol: CAPRIN1
disease_id: OMIM:620636
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
gene_symbol: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: COASY
disease_id: ORPHA:397725
disease_name: COASY protein-associated neurodegeneration
CoPAN
NBIA6
Neurodegeneration with brain iron accumulation due to COASY mutation
gene_symbol: MORC2
disease_id: OMIM:619090
disease_name: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
gene_symbol: NEMF
disease_id: OMIM:619099
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY
gene_symbol: GLE1
disease_id: OMIM:611890
disease_name: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE
gene_symbol: SLC25A19
disease_id: OMIM:613710
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)
gene_symbol: PIK3R5
disease_id: OMIM:615217
disease_name: ATAXIA-OCULOMOTOR APRAXIA 3
gene_symbol: SPTBN4
disease_id: OMIM:617519
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS
gene_symbol: ALDH18A1
disease_id: ORPHA:447757
disease_name: Autosomal dominant spastic paraplegia type 9B
AD-SPG9B
gene_symbol: MT-TE
disease_id: ORPHA:2596
disease_name: Myopathy and diabetes mellitus
gene_symbol: SERPING1
disease_id: OMIM:106100
disease_name: ANGIOEDEMA, HEREDITARY, TYPE I
gene_symbol: HSPB8
disease_id: OMIM:608673
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L
gene_symbol: KIF5A
disease_id: ORPHA:100991
disease_name: Autosomal dominant spastic paraplegia type 10
SPG10
gene_symbol: VPS41
disease_id: OMIM:619389
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29
gene_symbol: KRT5
disease_id: ORPHA:79400
disease_name: Localized epidermolysis bullosa simplex
EBS-loc
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type
Localized EBS
gene_symbol: KRT14
disease_id: ORPHA:79400
disease_name: Localized epidermolysis bullosa simplex
EBS-loc
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type
Localized EBS
gene_symbol: FAH
disease_id: OMIM:276700
disease_name: TYROSINEMIA, TYPE I
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: VWA1
disease_id: OMIM:619216
disease_name: NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES
gene_symbol: KPNA3
disease_id: OMIM:620106
disease_name: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT
gene_symbol: GMPPA
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: TRAPPC11
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: AAAS
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: AAAS
disease_id: OMIM:231550
disease_name: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME
gene_symbol: WDR48
disease_id: ORPHA:401800
disease_name: Autosomal recessive spastic paraplegia type 60
SPG60
gene_symbol: SPG7
disease_id: ORPHA:35689
disease_name: Primary lateral sclerosis
Adult-onset PLS
Adult-onset primary lateral sclerosis
PLS
gene_symbol: XK
disease_id: OMIM:300842
disease_name: MCLEOD SYNDROME
gene_symbol: KCNK9
disease_id: ORPHA:166108
disease_name: Birk-Barel syndrome
Birk-Barel Intellectual Disability-Dimorphism syndrome
Intellectual disability-hypotonia-facial dysmorphism syndrome
KCNK9 imprinting syndrome
gene_symbol: WARS1
disease_id: OMIM:617721
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IX
gene_symbol: PEX10
disease_id: OMIM:614871
disease_name: PEROXISOME BIOGENESIS DISORDER 6B
gene_symbol: PEX10
disease_id: ORPHA:247815
disease_name: Autosomal recessive ataxia due to PEX10 deficiency
Mild peroxisomal disorder due to PEX10 deficiency
gene_symbol: RTN2
disease_id: OMIM:620854
disease_name: OMIM:620854
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
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: PTRH2
disease_id: OMIM:616263
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: DEGS1
disease_id: OMIM:618404
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 18
gene_symbol: MOGS
disease_id: OMIM:606056
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb
gene_symbol: PLAAT3
disease_id: OMIM:620683
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9
gene_symbol: NDRG1
disease_id: ORPHA:99950
disease_name: Charcot-Marie-Tooth disease type 4D
CMT4D
HMSN, Lom type
HMSN-Lom
Hereditary motor and sensory neuropathy, Lom type
gene_symbol: MT-ND3
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MT-TV
disease_id: ORPHA:255210
disease_name: Mitochondrial DNA-associated Leigh syndrome
MILS
Maternally-inherited Leigh disease
Maternally-inherited infantile subacute necrotizing encephalopathy
mtDNA-associated Leigh syndrome
gene_symbol: MANBA
disease_id: OMIM:248510
disease_name: MANNOSIDOSIS, BETA A, LYSOSOMAL
gene_symbol: ABHD12
disease_id: OMIM:612674
disease_name: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT
gene_symbol: ACO2
disease_id: OMIM:614559
disease_name: INFANTILE CEREBELLAR-RETINAL DEGENERATION
gene_symbol: BAG3
disease_id: OMIM:612954
disease_name: MYOPATHY, MYOFIBRILLAR, 6
gene_symbol: RNASEH2A
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2C
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: SAMHD1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2B
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: ADAR
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: TREX1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: LSM11
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: IFIH1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNF168
disease_id: ORPHA:420741
disease_name: RIDDLE syndrome
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
gene_symbol: ARSA
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: ARSA
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: ARSA
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: ARSA
disease_id: OMIM:250100
disease_name: METACHROMATIC LEUKODYSTROPHY
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
gene_symbol: SLC52A2
disease_id: OMIM:614707
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 2
gene_symbol: PPP2R2B
disease_id: OMIM:604326
disease_name: SPINOCEREBELLAR ATAXIA 12
gene_symbol: PPP2R2B
disease_id: ORPHA:98762
disease_name: Spinocerebellar ataxia type 12
SCA12
gene_symbol: CLP1
disease_id: ORPHA:411493
disease_name: Pontocerebellar hypoplasia type 10
CLP1-related pontocerebellar hypoplasia
PCH10
gene_symbol: LAMA2
disease_id: ORPHA:258
disease_name: Laminin subunit alpha 2-related congenital muscular dystrophy
CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
Congenital muscular dystrophy type 1A
MDC1A
Merosin-negative congenital muscular dystrophy
gene_symbol: LAMA2
disease_id: OMIM:618138
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23
gene_symbol: DNM1L
disease_id: ORPHA:98673
disease_name: Autosomal dominant optic atrophy, classic form
Autosomal dominant optic atrophy, Kjer type
Kjer optic atrophy
Optic atrophy type 1
gene_symbol: COA3
disease_id: OMIM:619058
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14
gene_symbol: GET4
disease_id: OMIM:620200
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIy
gene_symbol: B4GALNT1
disease_id: ORPHA:101006
disease_name: Autosomal recessive spastic paraplegia type 26
GM2 synthase deficiency
SPG26
gene_symbol: FDX2
disease_id: OMIM:251900
disease_name: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY
gene_symbol: AHCY
disease_id: ORPHA:88618
disease_name: S-adenosylhomocysteine hydrolase deficiency
gene_symbol: SPTLC2
disease_id: OMIM:613640
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
gene_symbol: NEFH
disease_id: OMIM:616924
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC
gene_symbol: MRE11
disease_id: ORPHA:251347
disease_name: Ataxia-telangiectasia-like disorder
ATLD
gene_symbol: ATP1A1
disease_id: OMIM:618036
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD
gene_symbol: HSD17B4
disease_id: OMIM:233400
disease_name: PERRAULT SYNDROME 1
gene_symbol: CLCF1
disease_id: OMIM:610313
disease_name: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2
gene_symbol: XRCC1
disease_id: OMIM:617633
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
gene_symbol: RRM1
disease_id: OMIM:620647
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6
gene_symbol: IGHMBP2
disease_id: OMIM:616155
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
gene_symbol: GBA1
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: SCARB2
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
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: UBA1
disease_id: ORPHA:1145
disease_name: Infantile-onset X-linked spinal muscular atrophy
SMAX2
Spinal muscular atrophy with arthrogryposis
X-linked distal arthrogryposis multiplex congenita
X-linked spinal muscular atrophy type 2
gene_symbol: CPSF3
disease_id: OMIM:619876
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
gene_symbol: BSCL2
disease_id: ORPHA:139536
disease_name: Distal hereditary motor neuropathy type 5
Distal HMN V
Distal hereditary motor neuropathy type V
Distal spinal muscular atrophy type 5
dHMN5
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SELENOI
disease_id: ORPHA:506353
disease_name: Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive complex SPG due to Kennedy pathway dysfunction
Autosomal recessive spastic paraplegia type 81
gene_symbol: COG8
disease_id: ORPHA:95428
disease_name: COG8-CDG
CDG syndrome type IIh
CDG-IIh
CDG2H
Carbohydrate deficient glycoprotein syndrome type IIh
Congenital disorder of glycosylation type 2h
Congenital disorder of glycosylation type IIh
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: AIFM1
disease_id: ORPHA:238329
disease_name: Severe X-linked mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: KIF1C
disease_id: ORPHA:397946
disease_name: Autosomal spastic paraplegia type 58
Autosomal spastic ataxia type 2
SPAX2
SPG58
gene_symbol: PRKAR1A
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: PDE4D
disease_id: ORPHA:950
disease_name: Acrodysostosis
Acrodysostosis with or without multiple hormonal resistance
Acrodysplasia
Arkless-Graham syndrome
Maroteaux-Malamut syndrome
gene_symbol: MTHFR
disease_id: ORPHA:395
disease_name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
gene_symbol: MAG
disease_id: OMIM:616680
disease_name: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
gene_symbol: SURF1
disease_id: OMIM:616684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K
gene_symbol: SLC30A10
disease_id: ORPHA:309854
disease_name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: ELP1
disease_id: ORPHA:1764
disease_name: Familial dysautonomia
HSAN3
Hereditary sensory and autonomic neuropathy type 3
Hereditary sensory and autonomic neuropathy type III
Riley-Day syndrome
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: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: ERCC6
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: PRPS1
disease_id: ORPHA:411543
disease_name: Severe phosphoribosylpyrophosphate synthetase superactivity
Severe PRPP synthetase superactivity
Severe PRPS1 superactivity
gene_symbol: PRPS1
disease_id: ORPHA:99014
disease_name: X-linked Charcot-Marie-Tooth disease type 5
CMT5X
CMTX5
gene_symbol: PRPS1
disease_id: ORPHA:411536
disease_name: Mild phosphoribosylpyrophosphate synthetase superactivity
Mild PRPP synthetase superactivity
Mild PRPS1 superactivity
gene_symbol: PRPS1
disease_id: ORPHA:1187
disease_name: Lethal ataxia with deafness and optic atrophy
Arts syndrome
Lethal ataxia with hearing loss and optic atrophy
gene_symbol: PRPS1
disease_id: OMIM:300661
disease_name: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY
gene_symbol: PRPS1
disease_id: OMIM:301835
disease_name: ARTS SYNDROME
gene_symbol: MFN2
disease_id: OMIM:151800
disease_name: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY
gene_symbol: MFN2
disease_id: ORPHA:2398
disease_name: Multiple symmetric lipomatosis
Cephalothoracic lipodystrophy
Familial benign cervical lipomatosis
Launois-Bensaude lipomatosis
Madelung disease
gene_symbol: CYP27A1
disease_id: OMIM:213700
disease_name: CEREBROTENDINOUS XANTHOMATOSIS
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: PDK3
disease_id: OMIM:300905
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6
gene_symbol: PNKP
disease_id: ORPHA:459033
disease_name: Ataxia-oculomotor apraxia type 4
AOA4
gene_symbol: PNKP
disease_id: OMIM:616267
disease_name: ATAXIA-OCULOMOTOR APRAXIA 4
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: TDP1
disease_id: ORPHA:94124
disease_name: Spinocerebellar ataxia with axonal neuropathy type 1
SCAN1
gene_symbol: ADA2
disease_id: ORPHA:820
disease_name: Sneddon syndrome
Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: HSD3B7
disease_id: ORPHA:79301
disease_name: Congenital bile acid synthesis defect type 1
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
BASD1
gene_symbol: POLG
disease_id: ORPHA:94125
disease_name: Recessive mitochondrial ataxia syndrome
MIRAS
gene_symbol: POLG
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: POLG
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: POLG
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: RAB7A
disease_id: OMIM:600882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B
gene_symbol: PSAP
disease_id: OMIM:249900
disease_name: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: AP1B1
disease_id: OMIM:242150
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: AP1B1
disease_id: ORPHA:171851
disease_name: MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
gene_symbol: MTRR
disease_id: ORPHA:2169
disease_name: Methylcobalamin deficiency type cblE
Functional methionine synthase deficiency type cblE
gene_symbol: AARS1
disease_id: OMIM:616339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: PPOX
disease_id: OMIM:176200
disease_name: VARIEGATE PORPHYRIA
gene_symbol: DSTYK
disease_id: OMIM:270750
disease_name: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE
gene_symbol: TYMP
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: TYMP
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: LIG3
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: RRM2B
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: SPG21
disease_id: OMIM:248900
disease_name: MAST SYNDROME
gene_symbol: SLC5A7
disease_id: OMIM:158580
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA
gene_symbol: MT-ATP8
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1E
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1E
disease_id: OMIM:614053
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: ATP5F1D
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATP5F1A
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MT-ATP6
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: ATP5MK
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ATPAF2
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
gene_symbol: ABCD1
disease_id: ORPHA:139396
disease_name: X-linked cerebral adrenoleukodystrophy
X-CALD
gene_symbol: FBN1
disease_id: ORPHA:2833
disease_name: Stiff skin syndrome
gene_symbol: FBN1
disease_id: OMIM:184900
disease_name: STIFF SKIN SYNDROME
gene_symbol: IARS2
disease_id: ORPHA:436174
disease_name: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
CAGSSS
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: PNPLA6
disease_id: ORPHA:3363
disease_name: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Long eyelashes-intellectual disability syndrome
Oliver-McFarlane syndrome
gene_symbol: PNPLA6
disease_id: OMIM:245800
disease_name: LAURENCE-MOON SYNDROME
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: FMR1
disease_id: ORPHA:93256
disease_name: Fragile X-associated tremor/ataxia syndrome
FXTAS syndrome
gene_symbol: FMR1
disease_id: OMIM:300623
disease_name: FRAGILE X TREMOR/ATAXIA SYNDROME
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: TTR
disease_id: ORPHA:85451
disease_name: ATTRV122I amyloidosis
ATTRV122I-related amyloidosis
gene_symbol: TTR
disease_id: OMIM:115430
disease_name: CARPAL TUNNEL SYNDROME
gene_symbol: CAPN1
disease_id: OMIM:616907
disease_name: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
gene_symbol: CAPN1
disease_id: ORPHA:488594
disease_name: Autosomal recessive spastic paraplegia type 76
SPG76
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: LYST
disease_id: ORPHA:352723
disease_name: Attenuated Chédiak-Higashi syndrome
Atypical Chédiak-Higashi syndrome
gene_symbol: TGM6
disease_id: ORPHA:276193
disease_name: Spinocerebellar ataxia type 35
SCA35
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: SACS
disease_id: ORPHA:98
disease_name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ARSACS
Autosomal recessive spastic ataxia type 6
SPAX6
gene_symbol: FA2H
disease_id: ORPHA:329308
disease_name: Fatty acid hydroxylase-associated neurodegeneration
FAHN
gene_symbol: PMPCA
disease_id: ORPHA:1170
disease_name: Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive spinocerebellar ataxia type 2
SCAR2
gene_symbol: RNASEH1
disease_id: OMIM:616479
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
gene_symbol: SLC46A1
disease_id: OMIM:229050
disease_name: FOLATE MALABSORPTION, HEREDITARY
gene_symbol: SLC46A1
disease_id: ORPHA:90045
disease_name: Hereditary folate malabsorption
Congenital folate malabsorption
gene_symbol: AP5Z1
disease_id: OMIM:613647
disease_name: SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE
gene_symbol: AP5Z1
disease_id: ORPHA:306511
disease_name: Autosomal recessive spastic paraplegia type 48
SPG48
gene_symbol: NOTCH2
disease_id: ORPHA:955
disease_name: Hajdu-Cheney syndrome
Acroosteolysis dominant type
Acroosteolysis with osteoporosis and changes in skull and mandible
Arthrodentoosteodysplasia
Cheney syndrome
gene_symbol: SLC52A3
disease_id: OMIM:211530
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 1
gene_symbol: AP1S1
disease_id: OMIM:609313
disease_name: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
gene_symbol: AP1S1
disease_id: ORPHA:171851
disease_name: MEDNIK syndrome
Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
gene_symbol: NOTCH3
disease_id: OMIM:125310
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
gene_symbol: GDAP1
disease_id: OMIM:608340
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
gene_symbol: FGA
disease_id: OMIM:105200
disease_name: AMYLOIDOSIS, FAMILIAL VISCERAL
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: SEPTIN9
disease_id: OMIM:162100
disease_name: AMYOTROPHY, HEREDITARY NEURALGIC
gene_symbol: SEPTIN9
disease_id: ORPHA:2901
disease_name: Neuralgic amyotrophy
Acute brachial plexus neuritis
Brachial plexus neuritis
Immune brachial plexus neuropathy
Mononeuritis multiplex with brachial predilection
Neuralgic shoulder amyotrophy
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: DMXL2
disease_id: OMIM:618663
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81
gene_symbol: CCND1
disease_id: ORPHA:29073
disease_name: Multiple myeloma
Kahler disease
Medullary plasmacytoma
Myelomatosis
Plasma cell myeloma
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: MPC1
disease_id: OMIM:614741
disease_name: MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY
gene_symbol: APTX
disease_id: ORPHA:1168
disease_name: Ataxia-oculomotor apraxia type 1
AOA1
gene_symbol: CADM3
disease_id: OMIM:619519
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF
gene_symbol: PMP22
disease_id: OMIM:118220
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A
gene_symbol: PMP22
disease_id: OMIM:162500
disease_name: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES
gene_symbol: PMP22
disease_id: ORPHA:640
disease_name: Hereditary neuropathy with liability to pressure palsies
Current pressure-sensitive neuropathy
HNPP
Heterozygous microdeletion 17p11.2p12
Potato-grubbing palsy
Tomaculous neuropathy
Tulip-bulb digger's palsy
gene_symbol: WAS
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: WIPF1
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
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: TTBK2
disease_id: ORPHA:98767
disease_name: Spinocerebellar ataxia type 11
SCA11
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: CTLA4
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
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: CISD2
disease_id: ORPHA:3463
disease_name: Wolfram syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome
DIDMOAD syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
gene_symbol: WFS1
disease_id: ORPHA:3463
disease_name: Wolfram syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome
Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome
DIDMOAD syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
gene_symbol: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
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-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
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: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
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-CO3
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
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-CYB
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND5
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
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:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
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-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: PLEKHG4
disease_id: ORPHA:98765
disease_name: Spinocerebellar ataxia type 4
SCA4
gene_symbol: POLR3A
disease_id: ORPHA:447896
disease_name: Tremor-ataxia-central hypomyelination syndrome
TACH syndrome
gene_symbol: POLR3A
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: MGAT2
disease_id: ORPHA:79329
disease_name: MGAT2-CDG
CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency
gene_symbol: NAGLU
disease_id: OMIM:616491
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
gene_symbol: KIF1B
disease_id: OMIM:118210
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1
gene_symbol: C19orf12
disease_id: OMIM:615043
disease_name: SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE
gene_symbol: SAA1
disease_id: ORPHA:85445
disease_name: AA amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: TXN2
disease_id: OMIM:616811
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29
gene_symbol: GCLC
disease_id: ORPHA:33574
disease_name: Glutamate-cysteine ligase deficiency
Gamma-glutamylcysteine synthetase deficiency
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: ATXN1
disease_id: ORPHA:98755
disease_name: Spinocerebellar ataxia type 1
SCA1
gene_symbol: ATXN1
disease_id: OMIM:164400
disease_name: SPINOCEREBELLAR ATAXIA 1
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: EMILIN1
disease_id: OMIM:620080
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10
gene_symbol: NARS1
disease_id: OMIM:619091
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES
gene_symbol: NARS1
disease_id: OMIM:619092
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES
gene_symbol: SNAP29
disease_id: OMIM:609528
disease_name: CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME
gene_symbol: SNAP29
disease_id: ORPHA:66631
disease_name: CEDNIK syndrome
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
gene_symbol: FLNC
disease_id: ORPHA:171445
disease_name: Muscle filaminopathy
FLNC-associated myofibrillar myopathy
Filamin C-related filaminopathy
MFM5
gene_symbol: MPZ
disease_id: OMIM:118200
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B
gene_symbol: SPTAN1
disease_id: OMIM:620528
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11
gene_symbol: BMP6
disease_id: ORPHA:465508
disease_name: Symptomatic form of HFE-related hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1
gene_symbol: HFE
disease_id: ORPHA:465508
disease_name: Symptomatic form of HFE-related hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC2
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: LETM1
disease_id: OMIM:620089
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
gene_symbol: PHF6
disease_id: ORPHA:127
disease_name: Borjeson-Forssman-Lehmann syndrome
BFLS
Intellectual disability-epilepsy-endocrine disorders syndrome
gene_symbol: HK1
disease_id: OMIM:605285
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: WNK1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: RETREG1
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: SCN9A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: SCN9A
disease_id: ORPHA:90026
disease_name: Primary erythromelalgia
Primary erythermalgia
gene_symbol: KIF1A
disease_id: OMIM:201300
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA
gene_symbol: KIF1A
disease_id: OMIM:614213
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
gene_symbol: COX6A1
disease_id: OMIM:616039
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D
gene_symbol: PDSS1
disease_id: OMIM:614651
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 2
gene_symbol: LYZ
disease_id: OMIM:620658
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
gene_symbol: PEX5
disease_id: OMIM:616716
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
gene_symbol: OPA1
disease_id: OMIM:210000
disease_name: BEHR SYNDROME
gene_symbol: OPA1
disease_id: OMIM:125250
disease_name: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND 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: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: POLR3B
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: GCDH
disease_id: ORPHA:25
disease_name: Glutaryl-CoA dehydrogenase deficiency
GA1
GCDHD
Glutaric acidemia type 1
Glutaric aciduria type 1
Glutaryl-coenzyme A dehydrogenase deficiency
gene_symbol: SLC25A4
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: ATL1
disease_id: ORPHA:100984
disease_name: Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 3A
SPG3A
Strümpell disease
gene_symbol: ATL1
disease_id: OMIM:613708
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE ID
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-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-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-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: TPI1
disease_id: OMIM:615512
disease_name: TRIOSEPHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: HADHB
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: NGF
disease_id: OMIM:608654
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V
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: PRF1
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STX11
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: UNC13D
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STXBP2
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: EGR2
disease_id: OMIM:607678
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D
gene_symbol: EGR2
disease_id: OMIM:605253
disease_name: NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE
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: GALC
disease_id: ORPHA:206443
disease_name: Late-infantile/juvenile Krabbe disease
Krabbe disease, late-onset
gene_symbol: GALC
disease_id: ORPHA:206448
disease_name: Adult Krabbe disease
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: KCNJ11
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: NARS2
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: ABCC8
disease_id: ORPHA:79134
disease_name: DEND syndrome
Developmental delay-epilepsy-neonatal diabetes syndrome
gene_symbol: CBLIF
disease_id: ORPHA:332
disease_name: Congenital intrinsic factor deficiency
Congenital pernicious anemia
Gastric intrinsic factor deficiency
Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
IFD
Intrinsic factor deficiency
gene_symbol: TFG
disease_id: ORPHA:431329
disease_name: Autosomal recessive spastic paraplegia type 57
SPG57
Spastic paraplegia due to partial TFG deficiency
gene_symbol: TFG
disease_id: OMIM:604484
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE
gene_symbol: HSPB1
disease_id: OMIM:608634
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB
gene_symbol: SMPD1
disease_id: ORPHA:77293
disease_name: Chronic visceral acid sphingomyelinase deficiency
Chronic visceral ASMD
NPD-B
Niemann-Pick disease type B
gene_symbol: SCN11A
disease_id: ORPHA:90026
disease_name: Primary erythromelalgia
Primary erythermalgia
gene_symbol: SCN10A
disease_id: ORPHA:90026
disease_name: Primary erythromelalgia
Primary erythermalgia
gene_symbol: ERCC1
disease_id: ORPHA:1466
disease_name: COFS syndrome
Cerebrooculofacioskeletal syndrome
Pena-Shokeir syndrome type 2
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: SOX10
disease_id: ORPHA:163746
disease_name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Neurologic Waardenburg-Shah syndrome
PCWH
WS4 plus
gene_symbol: HARS1
disease_id: OMIM:616625
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W
gene_symbol: MT-TK
disease_id: ORPHA:1349
disease_name: Mitochondrial DNA-related cardiomyopathy and hearing loss
Maternally-inherited cardiomyopathy and deafness
mtDNA-related cardiomyopathy and deafness
mtDNA-related cardiomyopathy and hearing loss
tRNA-LYS-related cardiomyopathy-hearing loss syndrome
gene_symbol: GBE1
disease_id: ORPHA:206583
disease_name: Adult polyglucosan body disease
APBD
gene_symbol: DNAJC3
disease_id: OMIM:616192
disease_name: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS
gene_symbol: TIMMDC1
disease_id: OMIM:618251
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31
gene_symbol: GJB1
disease_id: OMIM:302800
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
gene_symbol: INF2
disease_id: OMIM:614455
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: ERBB3
disease_id: OMIM:243180
disease_name: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE
gene_symbol: ATXN3
disease_id: ORPHA:276238
disease_name: Machado-Joseph disease type 1
SCA3, Joseph type
Spinocerebellar ataxia type 3, Joseph type
gene_symbol: ATXN3
disease_id: ORPHA:276241
disease_name: Machado-Joseph disease type 2
SCA3, Thomas type
Spinocerebellar ataxia, Thomas type
gene_symbol: SIL1
disease_id: ORPHA:559
disease_name: Marinesco-Sjögren syndrome
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
gene_symbol: BRD4
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC3
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SMC1A
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: NIPBL
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: HDAC8
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: RAD21
disease_id: ORPHA:199
disease_name: Cornelia de Lange syndrome
Brachmann-de Lange syndrome
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: MYH14
disease_id: ORPHA:397744
disease_name: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
gene_symbol: MYH14
disease_id: OMIM:614369
disease_name: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
gene_symbol: OSTM1
disease_id: ORPHA:85179
disease_name: Infantile osteopetrosis with neuroaxonal dysplasia
gene_symbol: HSPB3
disease_id: OMIM:613376
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC
gene_symbol: CCT5
disease_id: ORPHA:139578
disease_name: Mutilating hereditary sensory neuropathy with spastic paraplegia
Mutilating HSAN with spastic paraplegia
gene_symbol: AGXT
disease_id: OMIM:259900
disease_name: HYPEROXALURIA, PRIMARY, TYPE I
gene_symbol: DYNC1H1
disease_id: OMIM:614228
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O
gene_symbol: HADHA
disease_id: ORPHA:746
disease_name: Mitochondrial trifunctional protein deficiency
TFP deficiency
TFPD
gene_symbol: HADHA
disease_id: OMIM:609015
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: HADHA
disease_id: ORPHA:5
disease_name: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
LCHAD deficiency
LCHADD
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
gene_symbol: LRPPRC
disease_id: ORPHA:70472
disease_name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
COX deficiency, French-Canadian type
Cytochrome C oxidase deficiency, French-Canadian type
Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
Leigh syndrome, French-Canadian type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
SLSJ-COX deficiency
gene_symbol: ATP6V1B2
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: TBC1D24
disease_id: ORPHA:79500
disease_name: DOORS syndrome
Autosomal recessive deafness-onychodystrophy syndrome
Autosomal recessive hearing loss-onychodystrophy syndrome
DOOR syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome
Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Deafness-onychoosteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome
Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome
Hearing loss-onychoosteodystrophy-intellectual disability syndrome
gene_symbol: RNU7-1
disease_id: OMIM:619487
disease_name: AICARDI-GOUTIERES SYNDROME 9
gene_symbol: TRMT5
disease_id: OMIM:616539
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26
gene_symbol: HADH
disease_id: ORPHA:71212
disease_name: Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to SCHAD deficiency
Hyperinsulinism due to glutamodehydrogenase deficiency
SCHAD deficiency
gene_symbol: MYOT
disease_id: ORPHA:98911
disease_name: Distal myotilinopathy
gene_symbol: ITPR3
disease_id: OMIM:620111
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1J
gene_symbol: LDB3
disease_id: ORPHA:98912
disease_name: Late-onset distal myopathy, Markesbery-Griggs type
ZASP-related myofibrillar myopathy
gene_symbol: GARS1
disease_id: OMIM:600794
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA
gene_symbol: PHYH
disease_id: ORPHA:773
disease_name: Refsum disease
Adult Refsum disease
Classic Refsum disease
HMSN 4
HMSN IV
Hereditary motor and sensory neuropathy type 4
Hereditary motor and sensory neuropathy type IV
Heredopathia atactica polyneuritiformis
Phytanic-CoA hydroxylase deficiency
gene_symbol: PEX7
disease_id: ORPHA:773
disease_name: Refsum disease
Adult Refsum disease
Classic Refsum disease
HMSN 4
HMSN IV
Hereditary motor and sensory neuropathy type 4
Hereditary motor and sensory neuropathy type IV
Heredopathia atactica polyneuritiformis
Phytanic-CoA hydroxylase deficiency
gene_symbol: CD28
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: TNFRSF1B
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
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: MARS1
disease_id: ORPHA:401835
disease_name: Autosomal recessive spastic paraplegia type 70
SPG70
gene_symbol: NAGA
disease_id: ORPHA:79280
disease_name: Alpha-N-acetylgalactosaminidase deficiency type 2
Adult-onset Alpha-N-acetylgalactosaminidase deficiency
Kanzaki disease
NAGA deficiency type 2
Schindler disease type 2
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: RMND1
disease_id: OMIM:614922
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
gene_symbol: SCYL1
disease_id: ORPHA:466794
disease_name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Autosomal recessive spinocerebellar ataxia type 21
SCAR21
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
gene_symbol: RAB3GAP1
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: RAB3GAP2
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: RAB18
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: TBC1D20
disease_id: ORPHA:2510
disease_name: Micro syndrome
WARBM
Warburg micro syndrome
gene_symbol: ZFR
disease_id: ORPHA:401840
disease_name: Autosomal recessive spastic paraplegia type 71
SPG71
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: MTRFR
disease_id: ORPHA:320375
disease_name: Autosomal recessive spastic paraplegia type 55
SPG55
gene_symbol: MFF
disease_id: OMIM:617086
disease_name: ENCEPHALOPATHY DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION 2
gene_symbol: SLC5A6
disease_id: OMIM:618973
disease_name: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE
gene_symbol: ACER3
disease_id: OMIM:617762
disease_name: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
gene_symbol: SUCLA2
disease_id: OMIM:612073
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
gene_symbol: NEFL
disease_id: OMIM:617882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
gene_symbol: AR
disease_id: OMIM:313200
disease_name: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
gene_symbol: SCP2
disease_id: OMIM:613724
disease_name: LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY
gene_symbol: HMBS
disease_id: ORPHA:79276
disease_name: Acute intermittent porphyria
gene_symbol: REEP1
disease_id: OMIM:620011
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6
gene_symbol: ELOVL5
disease_id: ORPHA:423296
disease_name: Spinocerebellar ataxia type 38
SCA38
gene_symbol: SLC12A6
disease_id: OMIM:218000
disease_name: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY
gene_symbol: CA2
disease_id: ORPHA:2785
disease_name: Osteopetrosis with renal tubular acidosis
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
gene_symbol: GNAS
disease_id: ORPHA:79443
disease_name: Pseudohypoparathyroidism type 1A
AHO-PHP syndrome Ia
Albright hereditary osteodystrophy-PHP syndrome Ia
gene_symbol: GNAS
disease_id: ORPHA:79444
disease_name: Pseudohypoparathyroidism type 1C
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
gene_symbol: LTBP3
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: ADAMTSL2
disease_id: ORPHA:2623
disease_name: Geleophysic dysplasia
Geleophysic dwarfism
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: IDUA
disease_id: OMIM:607016
disease_name: SCHEIE SYNDROME