TaoMedAI/RareMedData huggingface dataset:
Phenotype: Diffuse demyelination of the cerebral white matter (HP:0007162)
Associated genes and diseases:
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: HTRA1
disease_id: OMIM:600142
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
gene_symbol: ADAT3
disease_id: ORPHA:363528
disease_name: Intellectual disability-strabismus syndrome
gene_symbol: ABCD1
disease_id: ORPHA:139396
disease_name: X-linked cerebral adrenoleukodystrophy
X-CALD
Phenotype: Slowed slurred speech (HP:0007164)
Associated genes and diseases:
gene_symbol: SPG7
disease_id: ORPHA:99013
disease_name: Spastic paraplegia type 7
SPG7
gene_symbol: DNAJC6
disease_id: ORPHA:391411
disease_name: Atypical juvenile parkinsonism
gene_symbol: PODXL
disease_id: ORPHA:391411
disease_name: Atypical juvenile parkinsonism
gene_symbol: SYNJ1
disease_id: ORPHA:391411
disease_name: Atypical juvenile parkinsonism
gene_symbol: PIDD1
disease_id: OMIM:619827
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY
gene_symbol: MAPT
disease_id: ORPHA:240071
disease_name: Classic progressive supranuclear palsy syndrome
Classic PSP syndrome
Richardson syndrome
Steele-Richardson-Olszewski disease
Phenotype: Absent smooth pursuit (HP:0007179)
Associated genes and diseases:
gene_symbol: TBCD
disease_id: ORPHA:496641
disease_name: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
gene_symbol: TBCD
disease_id: OMIM:617193
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
gene_symbol: FGF14
disease_id: OMIM:193003
disease_name: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT
gene_symbol: DPM2
disease_id: ORPHA:329178
disease_name: Congenital muscular dystrophy with intellectual disability and severe epilepsy
CDG syndrome type Iu
CDG-Iu
CDG1U
CMD with intellectual disability and severe epilepsy
Carbohydrate deficient glycoprotein syndrome type Iu
Congenital disorder of glycosylation type 1u
Congenital disorder of glycosylation type Iu
DPM2-CDG
gene_symbol: RARS1
disease_id: OMIM:616140
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 9
gene_symbol: RARS1
disease_id: ORPHA:438114
disease_name: RARS-related autosomal recessive hypomyelinating leukodystrophy
Phenotype: Interosseus muscle atrophy (HP:0007181)
Associated genes and diseases:
gene_symbol: GARS1
disease_id: OMIM:600794
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA
gene_symbol: GARS1
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: GARS1
disease_id: OMIM:601472
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D
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: BSCL2
disease_id: OMIM:270685
disease_name: SPASTIC PARAPLEGIA 17, AUTOSOMAL DOMINANT
gene_symbol: REEP1
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: SLC5A6
disease_id: OMIM:619903
disease_name: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE
gene_symbol: TOR1AIP1
disease_id: OMIM:617072
disease_name: MYOPATHY, AUTOSOMAL RECESSIVE, WITH RIGID SPINE AND DISTAL JOINT CONTRACTURES
Phenotype: Focal lissencephaly (HP:0007187)
Associated genes and diseases:
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
Phenotype: Neuronal loss in the cerebral cortex (HP:0007190)
Associated genes and diseases:
gene_symbol: PC
disease_id: OMIM:266150
disease_name: PYRUVATE CARBOXYLASE DEFICIENCY
gene_symbol: FUS
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: SQSTM1
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: VCP
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TARDBP
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TBK1
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: CHCHD10
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Phenotype: Progressive spastic paraparesis (HP:0007199)
Associated genes and diseases:
gene_symbol: CPT1C
disease_id: ORPHA:444099
disease_name: Autosomal dominant spastic paraplegia type 73
SPG73
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: SPG7
disease_id: ORPHA:35689
disease_name: Primary lateral sclerosis
Adult-onset PLS
Adult-onset primary lateral sclerosis
PLS
gene_symbol: GALC
disease_id: ORPHA:206448
disease_name: Adult Krabbe disease
gene_symbol: FA2H
disease_id: ORPHA:329308
disease_name: Fatty acid hydroxylase-associated neurodegeneration
FAHN
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
gene_symbol: TBCE
disease_id: ORPHA:496756
disease_name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Phenotype: Focal aware cognitive seizure with forced thinking (HP:0032705)
Associated genes and diseases:
gene_symbol: GAL
disease_id: OMIM:616461
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
Phenotype: Focal impaired awareness motor seizure (HP:0032712)
Associated genes and diseases:
gene_symbol: KCNH5
disease_id: OMIM:620537
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112
gene_symbol: OTUD7A
disease_id: OMIM:620790
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
gene_symbol: CACNA2D1
disease_id: OMIM:620149
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
gene_symbol: LAMC3
disease_id: OMIM:614115
disease_name: CORTICAL MALFORMATIONS, OCCIPITAL
Phenotype: Focal impaired awareness non-motor seizure (HP:0032716)
Associated genes and diseases:
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: PDE2A
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: SCN8A
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: PRRT2
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
Phenotype: Focal impaired awareness tonic seizure (HP:0032724)
Associated genes and diseases:
gene_symbol: OTUD7A
disease_id: OMIM:620790
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
Phenotype: Focal impaired awareness clonic seizure (HP:0032725)
Associated genes and diseases:
gene_symbol: CACNA2D1
disease_id: OMIM:620149
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
Phenotype: Focal emotional seizure with fear/anxiety/panic (HP:0032739)
Associated genes and diseases:
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
Phenotype: Focal aware autonomic seizure (HP:0032740)
Associated genes and diseases:
gene_symbol: GAL
disease_id: OMIM:616461
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
Phenotype: Focal impaired awareness emotional seizure (HP:0032746)
Associated genes and diseases:
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
Phenotype: Focal impaired awareness emotional seizure with fear/anxiety/panic (HP:0032752)
Associated genes and diseases:
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
Phenotype: Focal aware sensory seizure (HP:0032754)
Associated genes and diseases:
gene_symbol: LGI1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: RELN
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: MICAL1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: GAL
disease_id: OMIM:616461
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
Phenotype: Focal impaired awareness autonomic seizure (HP:0032755)
Associated genes and diseases:
gene_symbol: PDE2A
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: SCN8A
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: PRRT2
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
Phenotype: Focal sensory seizure with vestibular features (HP:0032759)
Associated genes and diseases:
gene_symbol: LGI1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: RELN
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: MICAL1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
Phenotype: Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole (HP:0032773)
Associated genes and diseases:
gene_symbol: LGI1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: RELN
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: MICAL1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: KCNT1
disease_id: OMIM:614959
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14
Phenotype: Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena (HP:0032785)
Associated genes and diseases:
gene_symbol: GAL
disease_id: OMIM:616461
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
Phenotype: Migrating focal seizure (HP:0032786)
Associated genes and diseases:
gene_symbol: GABRA5
disease_id: OMIM:618559
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79
Phenotype: Focal impaired awareness hemiclonic seizure (HP:0032799)
Associated genes and diseases:
gene_symbol: CACNA2D1
disease_id: OMIM:620149
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
Phenotype: Episodic hypersomnia (HP:0007200)
Associated genes and diseases:
gene_symbol: TRANK1
disease_id: ORPHA:33543
disease_name: Kleine-Levin syndrome
Phenotype: Cerebral artery atherosclerosis (HP:0007201)
Associated genes and diseases:
gene_symbol: LDLR
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: PCSK9
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLRAP1
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: APOB
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG5
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG8
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
Phenotype: Hemimegalencephaly (HP:0007206)
Associated genes and diseases:
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
gene_symbol: IFNG
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: TSC2
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: TSC2
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: PIK3CA
disease_id: ORPHA:140944
disease_name: CLOVES syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: MTOR
disease_id: OMIM:616638
disease_name: SMITH-KINGSMORE SYNDROME
gene_symbol: MTOR
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: MTOR
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: TSC1
disease_id: OMIM:191100
disease_name: TUBEROUS SCLEROSIS 1
gene_symbol: TSC1
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: AKT3
disease_id: OMIM:615937
disease_name: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2
gene_symbol: AKT3
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: DEPDC5
disease_id: OMIM:604364
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
gene_symbol: DEPDC5
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: NRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: KRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: NPRL3
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: NPRL2
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated genes and diseases:
gene_symbol: SLC9A6
disease_id: OMIM:300243
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
gene_symbol: EFHC1
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: GABRD
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CLCN2
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: GABRA1
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: GABRA1
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: KCNQ3
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CILK1
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: JRK
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CACNB4
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: SCN9A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN2A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1B
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: PCDH19
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRG2
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
Phenotype: Irregular myelin loops (HP:0007208)
Associated genes and diseases:
gene_symbol: MTMR2
disease_id: OMIM:601382
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
Phenotype: Facial paralysis (HP:0007209)
Associated genes and diseases:
gene_symbol: TCIRG1
disease_id: OMIM:259700
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
gene_symbol: NFU1
disease_id: OMIM:605711
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: MTRFR
disease_id: OMIM:613559
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
gene_symbol: CLCN7
disease_id: OMIM:166600
disease_name: OSTEOPETROSIS, AUTOSOMAL DOMINANT 2
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: SCN1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: TNFSF11
disease_id: OMIM:259710
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
Phenotype: Periodic hyperkalemic paralysis (HP:0007215)
Associated genes and diseases:
gene_symbol: SCN4A
disease_id: ORPHA:682
disease_name: Hyperkalemic periodic paralysis
Adynamia episodica hereditaria
Familial hyperPP
Familial hyperkalemic periodic paralysis
Gamstorp disease
Gamstorp episodic adynamy
HYPP
HyperKPP
HyperPP
Hyperkalemic PP
Primary hyperPP
Primary hyperkalemic periodic paralysis
gene_symbol: SCN4A
disease_id: OMIM:170500
disease_name: HYPERKALEMIC PERIODIC PARALYSIS
gene_symbol: KCNJ5
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
gene_symbol: KCNJ2
disease_id: ORPHA:37553
disease_name: Andersen-Tawil syndrome
Andersen syndrome
LQT7
Long QT syndrome type 7
Phenotype: Demyelinating motor neuropathy (HP:0007220)
Associated genes and diseases:
gene_symbol: RNASEH1
disease_id: OMIM:616479
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
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: GJC2
disease_id: OMIM:608804
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 2
gene_symbol: TFG
disease_id: OMIM:615658
disease_name: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE
gene_symbol: NEFL
disease_id: ORPHA:99939
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2E
CMT2E
gene_symbol: NEFL
disease_id: ORPHA:101085
disease_name: Charcot-Marie-Tooth disease type 1F
CMT1F
gene_symbol: SPTBN4
disease_id: OMIM:617519
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEUROPATHY, AND DEAFNESS
Phenotype: Progressive truncal ataxia (HP:0007221)
Associated genes and diseases:
gene_symbol: KCTD7
disease_id: ORPHA:263516
disease_name: Progressive myoclonic epilepsy type 3
EPM3
PME type 3
Progressive myoclonic epilepsy due to KCTD7 deficiency
Progressive myoclonus epilepsy type 3
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
Phenotype: Intracerebral periventricular calcifications (HP:0007229)
Associated genes and diseases:
gene_symbol: SNORD118
disease_id: ORPHA:542310
disease_name: Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: CPT2
disease_id: ORPHA:228308
disease_name: Carnitine palmitoyl transferase II deficiency, neonatal form
CPT2, lethal systemic form
CPT2, neonatal form
CPTII, lethal systemic form
CPTII, neonatal form
Carnitine palmitoyl transferase II deficiency, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
Carnitine palmitoyl transferase deficiency type 2, neonatal form
gene_symbol: IFIH1
disease_id: OMIM:615846
disease_name: AICARDI-GOUTIERES SYNDROME 7
gene_symbol: CMPK2
disease_id: OMIM:621018
disease_name: OMIM:621018
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: SAMHD1
disease_id: OMIM:612952
disease_name: AICARDI-GOUTIERES SYNDROME 5
gene_symbol: SLC2A1
disease_id: OMIM:608885
disease_name: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS
gene_symbol: SLC2A1
disease_id: ORPHA:168577
disease_name: Hereditary cryohydrocytosis with reduced stomatin
CHC type 2
Hereditary cryohydrocytosis type 2
Stomatin-deficient cryohydrocytosis
sdCHC
gene_symbol: TREX1
disease_id: OMIM:225750
disease_name: AICARDI-GOUTIERES SYNDROME 1
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
Phenotype: Decreased distal sensory nerve action potential (HP:0007230)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
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: GDAP1
disease_id: OMIM:607706
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: SBF2
disease_id: ORPHA:99956
disease_name: Charcot-Marie-Tooth disease type 4B2
CMT4B2
gene_symbol: NEFL
disease_id: OMIM:607684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
gene_symbol: MPV17
disease_id: OMIM:618400
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE
gene_symbol: LITAF
disease_id: OMIM:601098
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C
gene_symbol: HK1
disease_id: ORPHA:99953
disease_name: Charcot-Marie-Tooth disease type 4G
CMT4G
HMSNR
Hereditary motor and sensory neuropathy, Russe Type
Phenotype: Spinocerebellar tract disease in lower limbs (HP:0007232)
Associated genes and diseases:
gene_symbol: MAN2B1
disease_id: OMIM:248500
disease_name: MANNOSIDOSIS, ALPHA B, LYSOSOMAL
Phenotype: Clusters of axonal regeneration (HP:0007233)
Associated genes and diseases:
gene_symbol: NEFL
disease_id: OMIM:607734
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F
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: GDAP1
disease_id: ORPHA:101097
disease_name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K