Phenotype: Abnormality of coordination (HP:0011443)
Associated genes and diseases:
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: MTHFR
disease_id: ORPHA:395
disease_name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
gene_symbol: POLR3B
disease_id: OMIM:614381
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: POLR3B
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: POLR3B
disease_id: OMIM:619742
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I
gene_symbol: POLR3B
disease_id: ORPHA:88637
disease_name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
4H syndrome
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: NEXMIF
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: RFXAP
disease_id: OMIM:620817
disease_name: MHC CLASS II DEFICIENCY 4
gene_symbol: RIPK4
disease_id: ORPHA:1401
disease_name: CHAND syndrome
Baughman syndrome
CHANDS
Curly hair-ankyloblepharon-nail dysplasia syndrome
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: PGM3
disease_id: OMIM:615816
disease_name: IMMUNODEFICIENCY 23
gene_symbol: CACNA2D2
disease_id: OMIM:618501
disease_name: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
gene_symbol: NRCAM
disease_id: OMIM:619833
disease_name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
gene_symbol: COA8
disease_id: OMIM:619061
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17
gene_symbol: KDM5A
disease_id: OMIM:620820
disease_name: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME
gene_symbol: DNMT1
disease_id: ORPHA:314404
disease_name: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ADCA-DN syndrome
Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
gene_symbol: DNMT1
disease_id: OMIM:614116
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IE
gene_symbol: DNMT1
disease_id: OMIM:604121
disease_name: CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
gene_symbol: POU4F1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: POU4F1
disease_id: OMIM:619352
disease_name: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
gene_symbol: CAMTA1
disease_id: ORPHA:314647
disease_name: Non-progressive cerebellar ataxia with intellectual disability
gene_symbol: CAMTA1
disease_id: OMIM:614756
disease_name: CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION
gene_symbol: ABHD5
disease_id: OMIM:275630
disease_name: CHANARIN-DORFMAN SYNDROME
gene_symbol: ABHD5
disease_id: ORPHA:98907
disease_name: Neutral lipid storage disease with ichthyosis
CDS
Chanarin-Dorfman syndrome
DCS
Dorfman-Chanarin syndrome
NLSDI
gene_symbol: MAP2K1
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: NRAS
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: BRAF
disease_id: ORPHA:389
disease_name: Langerhans cell histiocytosis
Histiocytosis X
Langerhans cell granulomatosis
gene_symbol: PRPS1
disease_id: ORPHA:99014
disease_name: X-linked Charcot-Marie-Tooth disease type 5
CMT5X
CMTX5
gene_symbol: PRPS1
disease_id: OMIM:301835
disease_name: ARTS SYNDROME
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: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: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: MAN2B1
disease_id: ORPHA:309288
disease_name: Alpha-mannosidosis, adult form
Lysosomal alpha-D-mannosidase deficiency, adult form
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: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: PLP1
disease_id: ORPHA:280210
disease_name: Pelizaeus-Merzbacher disease, connatal form
Connatal PMD
Pelizaeus-Merzbacher disease type II
Severe PMD
gene_symbol: PLP1
disease_id: ORPHA:280219
disease_name: Pelizaeus-Merzbacher disease, classic form
Classic PMD
gene_symbol: PLP1
disease_id: ORPHA:280234
disease_name: Null syndrome
PLP1 null syndrome
Pelizaeus-Merzbacher disease, null syndrome
gene_symbol: GAMT
disease_id: ORPHA:382
disease_name: Guanidinoacetate methyltransferase deficiency
GAMT deficiency
gene_symbol: GAMT
disease_id: OMIM:612736
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
gene_symbol: SNAP25
disease_id: OMIM:616330
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 18
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: NOP56
disease_id: OMIM:614153
disease_name: SPINOCEREBELLAR ATAXIA 36
gene_symbol: NOP56
disease_id: ORPHA:276198
disease_name: Spinocerebellar ataxia type 36
Asidan
SCA36
gene_symbol: RPGRIP1L
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: RPGRIP1L
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: RPGRIP1L
disease_id: OMIM:619113
disease_name: COACH SYNDROME 3
gene_symbol: RPGRIP1L
disease_id: OMIM:611560
disease_name: JOUBERT SYNDROME 7
gene_symbol: NPHP1
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: NPHP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: NPHP1
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: NPHP1
disease_id: OMIM:609583
disease_name: JOUBERT SYNDROME 4
gene_symbol: TMEM237
disease_id: ORPHA:220497
disease_name: Joubert syndrome with renal defect
JS-R
gene_symbol: TMEM237
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: TMEM237
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM237
disease_id: OMIM:614424
disease_name: JOUBERT SYNDROME 14
gene_symbol: AHDC1
disease_id: ORPHA:412069
disease_name: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Xia-Gibbs syndrome
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: AHI1
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: AHI1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: AHI1
disease_id: OMIM:608629
disease_name: JOUBERT SYNDROME 3
gene_symbol: INPP5E
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
gene_symbol: INPP5E
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: INPP5E
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CEP120
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: CEP120
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: MKS1
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: MKS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKS1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: MKS1
disease_id: OMIM:617121
disease_name: JOUBERT SYNDROME 28
gene_symbol: CEP41
disease_id: ORPHA:220493
disease_name: Joubert syndrome with ocular defect
JS-O
Joubert syndrome with retinopathy
gene_symbol: CEP41
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CEP41
disease_id: OMIM:614464
disease_name: JOUBERT SYNDROME 15
gene_symbol: PNPLA6
disease_id: OMIM:275400
disease_name: OLIVER-MCFARLANE SYNDROME
gene_symbol: PNPLA6
disease_id: ORPHA:2377
disease_name: Laurence-Moon syndrome
LMS
gene_symbol: PNPLA6
disease_id: OMIM:215470
disease_name: BOUCHER-NEUHAUSER SYNDROME
gene_symbol: PNPLA6
disease_id: ORPHA:1180
disease_name: Ataxia-hypogonadism-choroidal dystrophy syndrome
Boucher-Neuhäuser syndrome
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: ORPHA:1173
disease_name: Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
gene_symbol: PNPLA6
disease_id: OMIM:612020
disease_name: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE
gene_symbol: PNPLA6
disease_id: OMIM:245800
disease_name: LAURENCE-MOON SYNDROME
gene_symbol: ERCC8
disease_id: OMIM:216400
disease_name: COCKAYNE SYNDROME A
gene_symbol: ERCC8
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC8
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: NOTCH2NLC
disease_id: OMIM:603472
disease_name: NEURONAL INTRANUCLEAR INCLUSION DISEASE
gene_symbol: NOTCH2NLC
disease_id: OMIM:619473
disease_name: OCULOPHARYNGODISTAL MYOPATHY 3
gene_symbol: NOTCH2NLC
disease_id: ORPHA:2289
disease_name: Neuronal intranuclear inclusion disease
gene_symbol: SAMD9L
disease_id: OMIM:159550
disease_name: ATAXIA-PANCYTOPENIA SYNDROME
gene_symbol: SAMD9L
disease_id: ORPHA:2585
disease_name: Ataxia-pancytopenia syndrome
Myelocerebellar disorder
gene_symbol: SAMD9L
disease_id: OMIM:619806
disease_name: SPINOCEREBELLAR ATAXIA 49
gene_symbol: UCHL1
disease_id: OMIM:615491
disease_name: SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE
gene_symbol: MSTO1
disease_id: OMIM:617675
disease_name: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
gene_symbol: RRM2B
disease_id: OMIM:613077
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5
gene_symbol: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: UBTF
disease_id: OMIM:617672
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY
gene_symbol: ELOVL1
disease_id: OMIM:618527
disease_name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
gene_symbol: RAD50
disease_id: OMIM:613078
disease_name: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
gene_symbol: ARL6
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: ARL6
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CCDC28B
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: OMIM:209900
disease_name: BARDET-BIEDL SYNDROME 1
gene_symbol: BBS1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
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: AFG3L2
disease_id: OMIM:614487
disease_name: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
gene_symbol: GJA1
disease_id: ORPHA:2710
disease_name: Oculodentodigital dysplasia
Meyer-Schwickerath syndrome
Meyer-Schwickerath-Weyers syndrome
ODDD syndrome
ODOD syndrome
Oculo-dento-digital dysplasia
Oculodentodigital syndrome
Oculodentodigitalis dysplasia
Oculodentoosseous dysplasia
Osseous-oculo-dental dysplasia
gene_symbol: GJA1
disease_id: OMIM:164200
disease_name: OCULODENTODIGITAL DYSPLASIA
gene_symbol: MT-ATP6
disease_id: OMIM:551500
disease_name: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ATP6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ATP6
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-ATP6
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: MT-ATP6
disease_id: ORPHA:644
disease_name: NARP syndrome
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
gene_symbol: MT-ATP6
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: MT-TS1
disease_id: OMIM:545000
disease_name: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
gene_symbol: MT-TS1
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
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-TS1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: MT-TS2
disease_id: OMIM:545000
disease_name: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
gene_symbol: MT-TS2
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
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-TS2
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: MT-TK
disease_id: OMIM:545000
disease_name: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
gene_symbol: MT-TK
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
gene_symbol: MT-TK
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-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: MT-TH
disease_id: OMIM:545000
disease_name: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
gene_symbol: MT-TH
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
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: MT-TI
disease_id: OMIM:545000
disease_name: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
gene_symbol: MT-TL1
disease_id: OMIM:545000
disease_name: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
gene_symbol: MT-TL1
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
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-TL1
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-TL1
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: MT-TP
disease_id: OMIM:545000
disease_name: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
gene_symbol: MT-TP
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
gene_symbol: MT-TF
disease_id: OMIM:545000
disease_name: MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS
gene_symbol: MT-TF
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
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: SCO2
disease_id: OMIM:608908
disease_name: MYOPIA 6
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: SCO2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: DMXL2
disease_id: OMIM:616113
disease_name: POLYENDOCRINE-POLYNEUROPATHY SYNDROME
gene_symbol: DMXL2
disease_id: ORPHA:453533
disease_name: Polyendocrine-polyneuropathy syndrome
gene_symbol: SNX14
disease_id: OMIM:616354
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20
gene_symbol: SNX14
disease_id: ORPHA:397709
disease_name: Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Autosomal recessive spinocerebellar ataxia type 20
Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
SCAR20
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: PARN
disease_id: OMIM:616353
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
gene_symbol: PARN
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: PURA
disease_id: ORPHA:438216
disease_name: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
gene_symbol: NDST1
disease_id: OMIM:616116
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46
gene_symbol: TBCE
disease_id: OMIM:617207
disease_name: ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: BBIP1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP290
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: CEP290
disease_id: OMIM:610188
disease_name: JOUBERT SYNDROME 5
gene_symbol: CEP290
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: IFT27
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCAPER
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: WDPCP
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SCLT1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS9
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: CEP19
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TRIM32
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS10
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: TTC8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT172
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS2
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS4
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: MKKS
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: LZTFL1
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS7
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS12
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: SDCCAG8
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: CFAP418
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: BBS5
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:110
disease_name: Bardet-Biedl syndrome
BBS
gene_symbol: IFT74
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: AIFM1
disease_id: ORPHA:101078
disease_name: X-linked Charcot-Marie-Tooth disease type 4
CMT4X
CMTX4
Cowchock syndrome
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: GRM1
disease_id: OMIM:617691
disease_name: SPINOCEREBELLAR ATAXIA 44
gene_symbol: GRM1
disease_id: OMIM:614831
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13
gene_symbol: TBC1D23
disease_id: OMIM:617695
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 11
gene_symbol: CWF19L1
disease_id: OMIM:616127
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17
gene_symbol: HK1
disease_id: OMIM:618547
disease_name: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
gene_symbol: GJB1
disease_id: ORPHA:101075
disease_name: X-linked Charcot-Marie-Tooth disease type 1
CMT1X
CMTX1
gene_symbol: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: OMIM:535000
disease_name: 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-ND1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND1
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-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND2
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND2
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-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: OMIM:535000
disease_name: 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: MT-ND4
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: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: NDUFS2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS2
disease_id: OMIM:618228
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 6
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: OMIM:535000
disease_name: 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-CYB
disease_id: OMIM:535000
disease_name: 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: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND5
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
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-ND5
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-ND6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND6
disease_id: OMIM:535000
disease_name: 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-ND6
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-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MVK
disease_id: ORPHA:343
disease_name: Hyperimmunoglobulinemia D with periodic fever
HIDS
Hyper-IgD syndrome
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulinemia D syndrome
Partial mevalonate kinase deficiency
gene_symbol: MVK
disease_id: ORPHA:29
disease_name: Mevalonic aciduria
Complete mevalonate kinase deficiency
MVA
gene_symbol: MVK
disease_id: OMIM:610377
disease_name: MEVALONIC ACIDURIA
gene_symbol: ATN1
disease_id: ORPHA:101
disease_name: Dentatorubral pallidoluysian atrophy
DRPLA
Dentatorubropallidoluysian atrophy
Naito-Oyanagi disease
gene_symbol: ATN1
disease_id: OMIM:125370
disease_name: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY
gene_symbol: ATM
disease_id: ORPHA:100
disease_name: Ataxia-telangiectasia
Louis-Bar syndrome
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
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: KCNJ10
disease_id: OMIM:612780
disease_name: SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE
gene_symbol: KCNJ10
disease_id: ORPHA:705
disease_name: Pendred syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome
gene_symbol: MYO5A
disease_id: ORPHA:33445
disease_name: Neuroectodermal melanolysosomal disease
Elejalde neuroectodermal melanolysosomal disease
gene_symbol: MYO5A
disease_id: ORPHA:79476
disease_name: Griscelli syndrome type 1
Griscelli-Pruniéras syndrome type 1
Hypopigmentation-neurologic impairment syndrome
gene_symbol: DARS1
disease_id: OMIM:615281
disease_name: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
gene_symbol: FDXR
disease_id: ORPHA:543470
disease_name: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
gene_symbol: TWNK
disease_id: OMIM:616138
disease_name: PERRAULT SYNDROME 5
gene_symbol: TWNK
disease_id: OMIM:271245
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: TWNK
disease_id: ORPHA:1186
disease_name: Infantile-onset spinocerebellar ataxia
IOSCA
Ohaha syndrome
Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome
gene_symbol: CAPRIN1
disease_id: OMIM:620636
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
gene_symbol: ATP13A2
disease_id: OMIM:617225
disease_name: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
gene_symbol: ATP13A2
disease_id: OMIM:606693
disease_name: KUFOR-RAKEB SYNDROME
gene_symbol: PITRM1
disease_id: OMIM:619405
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30
gene_symbol: MYORG
disease_id: OMIM:618317
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE
gene_symbol: KCNJ16
disease_id: OMIM:619406
disease_name: HYPOKALEMIC TUBULOPATHY AND DEAFNESS
gene_symbol: FAT4
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: DCHS1
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: TDP2
disease_id: ORPHA:404493
disease_name: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
SCAR23
Spinocerebellar ataxia autosomal recessive type 23
gene_symbol: TDP2
disease_id: OMIM:616949
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 23
gene_symbol: ACAT1
disease_id: ORPHA:134
disease_name: Beta-ketothiolase deficiency
3-ketothiolase deficiency
3-oxothiolase deficiency
Alpha methylacetoacetic aciduria
Alpha-methyl-acetoacetyl-CoA thiolase deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency
T2 deficiency
gene_symbol: NAXD
disease_id: OMIM:618321
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2
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
gene_symbol: FXN
disease_id: OMIM:229300
disease_name: FRIEDREICH ATAXIA
gene_symbol: FXN
disease_id: OMIM:601992
disease_name: FRIEDREICH ATAXIA 2
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: ALS2
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: HTRA1
disease_id: OMIM:600142
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
gene_symbol: CLN8
disease_id: OMIM:600143
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 8
gene_symbol: CLN8
disease_id: ORPHA:1947
disease_name: Progressive epilepsy-intellectual disability syndrome, Finnish type
CLN8 disease, Northern epilepsy variant
NCL, Northern epilepsy variant
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
Northern epilepsy
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: ATCAY
disease_id: OMIM:601238
disease_name: CEREBELLAR ATAXIA, CAYMAN TYPE
gene_symbol: GBA1
disease_id: ORPHA:77261
disease_name: Gaucher disease type 3
Cerebral juvenile and adult form of Gaucher disease
Chronic neuronopathic Gaucher disease
Gaucher disease, subacute neuronopathic type
gene_symbol: GBA1
disease_id: OMIM:231000
disease_name: GAUCHER DISEASE, TYPE III
gene_symbol: ATG7
disease_id: OMIM:619422
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31
gene_symbol: IFT140
disease_id: OMIM:266920
disease_name: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
gene_symbol: PTEN
disease_id: ORPHA:65285
disease_name: Lhermitte-Duclos disease
Dysplastic gangliocytoma of the cerebellum
LDD
gene_symbol: PTEN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: B4GALNT1
disease_id: OMIM:609195
disease_name: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE
gene_symbol: POLG2
disease_id: OMIM:619425
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TRIM8
disease_id: OMIM:619428
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME
gene_symbol: RNF168
disease_id: OMIM:611943
disease_name: RIDDLE SYNDROME
gene_symbol: RNF168
disease_id: ORPHA:420741
disease_name: RIDDLE syndrome
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
gene_symbol: LMNB1
disease_id: ORPHA:99027
disease_name: Adult-onset autosomal dominant leukodystrophy
ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy
gene_symbol: ARSA
disease_id: OMIM:250100
disease_name: METACHROMATIC LEUKODYSTROPHY
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL10
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: C4A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ASL
disease_id: ORPHA:23
disease_name: Argininosuccinic aciduria
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
gene_symbol: ASL
disease_id: OMIM:207900
disease_name: ARGININOSUCCINIC ACIDURIA
gene_symbol: MT-RNR1
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
gene_symbol: MT-TQ
disease_id: ORPHA:551
disease_name: MERRF
Fukuhara syndrome
Myoclonus epilepsy associated with ragged-red fibres
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: 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: 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: ORPHA:94125
disease_name: Recessive mitochondrial ataxia syndrome
MIRAS
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: POLG
disease_id: OMIM:613662
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: POLG
disease_id: ORPHA:726
disease_name: Alpers-Huttenlocher syndrome
Alpers progressive sclerosing poliodystrophy
Alpers syndrome
Progressive neuronal degeneration of childhood with liver disease
gene_symbol: ERCC6
disease_id: OMIM:133540
disease_name: COCKAYNE SYNDROME B
gene_symbol: ERCC6
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC6
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
gene_symbol: ERCC6
disease_id: OMIM:278800
disease_name: DE SANCTIS-CACCHIONE SYNDROME
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: LONP1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: HMGCL
disease_id: ORPHA:20
disease_name: 3-hydroxy-3-methylglutaric aciduria
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HMG-CoA lyase deficiency
Hydroxymethylglutaric aciduria
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-TW
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: ALDH5A1
disease_id: ORPHA:22
disease_name: Succinic semialdehyde dehydrogenase deficiency
4-hydroxybutyric aciduria
Gamma-hydroxybutyric aciduria
SSADH deficiency
gene_symbol: ALDH5A1
disease_id: OMIM:271980
disease_name: SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY
gene_symbol: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: RPL10
disease_id: ORPHA:459070
disease_name: X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
gene_symbol: DPYSL5
disease_id: OMIM:619435
disease_name: RITSCHER-SCHINZEL SYNDROME 4
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: DYRK1A
disease_id: OMIM:614104
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
gene_symbol: NIPA1
disease_id: ORPHA:261183
disease_name: 15q11.2 microdeletion syndrome
15q11.2 BP1-BP2 microdeletion syndrome
Del(15)(q11.2)
Monosomy 15q11.2
gene_symbol: TUBG1
disease_id: ORPHA:261183
disease_name: 15q11.2 microdeletion syndrome
15q11.2 BP1-BP2 microdeletion syndrome
Del(15)(q11.2)
Monosomy 15q11.2
gene_symbol: NIPA2
disease_id: ORPHA:261183
disease_name: 15q11.2 microdeletion syndrome
15q11.2 BP1-BP2 microdeletion syndrome
Del(15)(q11.2)
Monosomy 15q11.2
gene_symbol: MME
disease_id: OMIM:617018
disease_name: SPINOCEREBELLAR ATAXIA 43
gene_symbol: FTH1
disease_id: OMIM:620669
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9
gene_symbol: NUP54
disease_id: OMIM:620427
disease_name: DYSTONIA 37, EARLY-ONSET, WITH STRIATAL LESIONS
gene_symbol: NUP54
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
gene_symbol: TMEM216
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: TMEM216
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: MPDU1
disease_id: OMIM:609180
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If
gene_symbol: EBF3
disease_id: ORPHA:96148
disease_name: Distal deletion 10q syndrome
Deletion 10qter
Distal monosomy 10q
Monosomy 10qter
Telomeric deletion 10q
gene_symbol: EBF3
disease_id: OMIM:617330
disease_name: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
gene_symbol: PRICKLE1
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: PRICKLE1
disease_id: OMIM:612437
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B
gene_symbol: CSTB
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: CSTB
disease_id: OMIM:254800
disease_name: MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG
gene_symbol: SCARB2
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: ITPR1
disease_id: ORPHA:208513
disease_name: Spinocerebellar ataxia type 29
Congenital nonprogressive spinocerebellar ataxia
SCA29
gene_symbol: ITPR1
disease_id: ORPHA:1065
disease_name: Aniridia-cerebellar ataxia-intellectual disability syndrome
Gillespie syndrome
gene_symbol: ITPR1
disease_id: ORPHA:98769
disease_name: Spinocerebellar ataxia type 15/16
SCA15/16
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: OGDH
disease_id: ORPHA:31
disease_name: Oxoglutaric aciduria
Alpha-ketoglutarate dehydrogenase deficiency
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: SLC16A2
disease_id: OMIM:300523
disease_name: ALLAN-HERNDON-DUDLEY SYNDROME
gene_symbol: SLC16A2
disease_id: ORPHA:59
disease_name: Allan-Herndon-Dudley syndrome
AHDS
MCT8 deficiency
Monocarboxylate transporter 8 deficiency
X-linked intellectual disability-hypotonia syndrome
gene_symbol: NFASC
disease_id: OMIM:618356
disease_name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION
gene_symbol: ARV1
disease_id: OMIM:617020
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38
gene_symbol: SOD1
disease_id: OMIM:618598
disease_name: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
gene_symbol: RNF220
disease_id: OMIM:619688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY
gene_symbol: KCNJ11
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
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: ABCC8
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: ABCC8
disease_id: OMIM:240800
disease_name: HYPOGLYCEMIA, LEUCINE-INDUCED
gene_symbol: INS
disease_id: ORPHA:99885
disease_name: Isolated permanent neonatal diabetes mellitus
Isolated PNDM
Monogenic diabetes of infancy
gene_symbol: TGM6
disease_id: OMIM:613908
disease_name: SPINOCEREBELLAR ATAXIA 35
gene_symbol: UBE3A
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: UBE3A
disease_id: ORPHA:411511
disease_name: Angelman syndrome due to a point mutation
gene_symbol: UBE3A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: UBE3A
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: UBE3A
disease_id: ORPHA:238446
disease_name: 15q11q13 microduplication syndrome
15q11q13 duplication syndrome
Dup(15)(q11q13)
Trisomy 15q11q13
gene_symbol: OCA2
disease_id: ORPHA:98794
disease_name: Angelman syndrome due to maternal 15q11q13 deletion
Angelman syndrome due to maternal monosomy 15q11q13
gene_symbol: MBD5
disease_id: OMIM:156200
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 1
gene_symbol: MBD5
disease_id: ORPHA:228402
disease_name: 2q23.1 microdeletion syndrome
Del(2)(q23.1)
Monosomy 2q23.1
Pseudo-Angelman syndrome
gene_symbol: KIF1A
disease_id: ORPHA:101010
disease_name: Autosomal spastic paraplegia type 30
SPG30
gene_symbol: KIF1A
disease_id: OMIM:610357
disease_name: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT
gene_symbol: KIF1A
disease_id: OMIM:614255
disease_name: NESCAV SYNDROME
gene_symbol: TUBB2B
disease_id: ORPHA:467166
disease_name: Tubulinopathy-associated dysgyria
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
gene_symbol: TUBB2B
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: TUBA1A
disease_id: ORPHA:467166
disease_name: Tubulinopathy-associated dysgyria
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
gene_symbol: TUBA1A
disease_id: OMIM:611603
disease_name: LISSENCEPHALY 3
gene_symbol: TUBB3
disease_id: ORPHA:467166
disease_name: Tubulinopathy-associated dysgyria
Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
gene_symbol: MCM3AP
disease_id: OMIM:618124
disease_name: PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: MARS1
disease_id: OMIM:619692
disease_name: TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE
gene_symbol: KCNC1
disease_id: OMIM:616187
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC 7
gene_symbol: AUH
disease_id: OMIM:250950
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE I
gene_symbol: SUOX
disease_id: OMIM:272300
disease_name: SULFITE OXIDASE DEFICIENCY, ISOLATED
gene_symbol: GBE1
disease_id: ORPHA:206583
disease_name: Adult polyglucosan body disease
APBD
gene_symbol: PTS
disease_id: ORPHA:13
disease_name: 6-pyruvoyl-tetrahydropterin synthase deficiency
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
gene_symbol: PTS
disease_id: OMIM:261640
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: MTTP
disease_id: OMIM:200100
disease_name: ABETALIPOPROTEINEMIA
gene_symbol: MECR
disease_id: OMIM:617282
disease_name: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
gene_symbol: MECR
disease_id: ORPHA:508093
disease_name: MEPAN syndrome
Autosomal recessive childhood-onset dystonia, DYT29 type
Childhood-onset generalized dystonia-optic atrophy syndrome
DYT29
Dystonia 29
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome
gene_symbol: GLRB
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: GLRA1
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: GPHN
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: ATAD1
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: SLC6A5
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: SDHB
disease_id: OMIM:619224
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: SDHB
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SLC39A4
disease_id: OMIM:201100
disease_name: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
gene_symbol: FRMPD4
disease_id: OMIM:300983
disease_name: MENTAL RETARDATION, X-LINKED 104
gene_symbol: HNRNPH2
disease_id: OMIM:300986
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE
gene_symbol: ERCC3
disease_id: OMIM:610651
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B
gene_symbol: ERCC3
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC3
disease_id: ORPHA:220295
disease_name: Xeroderma pigmentosum-Cockayne syndrome complex
XP/CS complex
gene_symbol: SATB1
disease_id: OMIM:619228
disease_name: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: SIL1
disease_id: ORPHA:559
disease_name: Marinesco-Sjögren syndrome
gene_symbol: SIL1
disease_id: OMIM:248800
disease_name: MARINESCO-SJOGREN SYNDROME
gene_symbol: HEPACAM
disease_id: OMIM:613925
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A
gene_symbol: HEPACAM
disease_id: ORPHA:2478
disease_name: Megalencephalic leukoencephalopathy with subcortical cysts
MLC
Megalencephalic leukodystrophy
Megalencephaly-cystic leukodystrophy syndrome
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Van der Knaap syndrome
gene_symbol: HEPACAM
disease_id: OMIM:604004
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
gene_symbol: TEFM
disease_id: OMIM:620451
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58
gene_symbol: PSAP
disease_id: ORPHA:309252
disease_name: Atypical Gaucher disease due to saposin C deficiency
gene_symbol: COA7
disease_id: OMIM:618387
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3
gene_symbol: ZBTB11
disease_id: OMIM:618383
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 69
gene_symbol: SLC13A3
disease_id: OMIM:618384
disease_name: LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: MRE11
disease_id: ORPHA:251347
disease_name: Ataxia-telangiectasia-like disorder
ATLD
gene_symbol: MRE11
disease_id: OMIM:604391
disease_name: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: NHLRC1
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
gene_symbol: EPM2A
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: TAF1
disease_id: OMIM:300966
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 33
gene_symbol: NONO
disease_id: OMIM:300967
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 34
gene_symbol: NONO
disease_id: ORPHA:466791
disease_name: Macrocephaly-intellectual disability-left ventricular non compaction syndrome
gene_symbol: PRODH
disease_id: OMIM:239500
disease_name: HYPERPROLINEMIA, TYPE I
gene_symbol: SOX10
disease_id: OMIM:609136
disease_name: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
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: SOX10
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
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: PEX26
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX19
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX2
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX2
disease_id: OMIM:614867
disease_name: PEROXISOME BIOGENESIS DISORDER 5B
gene_symbol: PEX3
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX16
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: PEX6
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX6
disease_id: OMIM:614863
disease_name: PEROXISOME BIOGENESIS DISORDER 4B
gene_symbol: PEX11B
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX5
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX1
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX12
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX12
disease_id: OMIM:266510
disease_name: PEROXISOME BIOGENESIS DISORDER 3B
gene_symbol: PEX13
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX14
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX10
disease_id: ORPHA:772
disease_name: Infantile Refsum disease
IRD
Mild PBD-ZSD
Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
gene_symbol: PEX10
disease_id: OMIM:614871
disease_name: PEROXISOME BIOGENESIS DISORDER 6B
gene_symbol: ARL3
disease_id: OMIM:618161
disease_name: JOUBERT SYNDROME 35
gene_symbol: ARL3
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
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: PHYH
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
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: PEX7
disease_id: OMIM:614879
disease_name: PEROXISOME BIOGENESIS DISORDER 9B
gene_symbol: PEX7
disease_id: OMIM:266500
disease_name: REFSUM DISEASE, CLASSIC
gene_symbol: HIC1
disease_id: ORPHA:531
disease_name: Miller-Dieker syndrome
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
gene_symbol: PAFAH1B1
disease_id: ORPHA:531
disease_name: Miller-Dieker syndrome
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
gene_symbol: YWHAE
disease_id: ORPHA:531
disease_name: Miller-Dieker syndrome
Lissencephaly due to 17p13.3 deletion
Monosomy 17p13.3
Telomeric deletion 17p
gene_symbol: SDHA
disease_id: OMIM:619259
disease_name: NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY
gene_symbol: SDHA
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHA
disease_id: OMIM:252011
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SNORD118
disease_id: ORPHA:542310
disease_name: Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome
gene_symbol: SNORD118
disease_id: OMIM:614561
disease_name: LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: LGI3
disease_id: OMIM:620007
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS
gene_symbol: CBS
disease_id: OMIM:236200
disease_name: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
gene_symbol: TMEM67
disease_id: OMIM:610688
disease_name: JOUBERT SYNDROME 6
gene_symbol: TMEM67
disease_id: OMIM:216360
disease_name: COACH SYNDROME 1
gene_symbol: TMEM67
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: TMEM67
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: ADPRS
disease_id: OMIM:618170
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
gene_symbol: PNP
disease_id: ORPHA:760
disease_name: Purine nucleoside phosphorylase deficiency
PNP deficiency
PNPase deficiency
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: COQ5
disease_id: OMIM:619028
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 9
gene_symbol: CTNNA2
disease_id: OMIM:618174
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
gene_symbol: SLC12A3
disease_id: OMIM:263800
disease_name: GITELMAN SYNDROME
gene_symbol: CPS1
disease_id: OMIM:237300
disease_name: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: TRAF3IP1
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: IQCB1
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: INVS
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: NPHP4
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: WDR19
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: NPHP3
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: CEP164
disease_id: ORPHA:3156
disease_name: Senior-Loken syndrome
Nephronophthisis with retinal dystrophy
Renal dysplasia-retinal aplasia syndrome
SLSN
gene_symbol: FBXW7
disease_id: OMIM:620012
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE
gene_symbol: RORA
disease_id: OMIM:618060
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
gene_symbol: PDE2A
disease_id: OMIM:619150
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
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: CACNB4
disease_id: OMIM:613855
disease_name: EPISODIC ATAXIA, TYPE 5
gene_symbol: CACNB4
disease_id: ORPHA:211067
disease_name: Episodic ataxia type 5
gene_symbol: MTFMT
disease_id: OMIM:614947
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15
gene_symbol: MTFMT
disease_id: OMIM:618248
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 27
gene_symbol: GRN
disease_id: OMIM:614706
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 11
gene_symbol: TDP1
disease_id: ORPHA:94124
disease_name: Spinocerebellar ataxia with axonal neuropathy type 1
SCAN1
gene_symbol: TDP1
disease_id: OMIM:607250
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 1
gene_symbol: SLC52A2
disease_id: OMIM:614707
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 2
gene_symbol: EPB42
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SLC4A1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTB
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTA1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: ANK1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SLC6A8
disease_id: ORPHA:52503
disease_name: X-linked creatine transporter deficiency
Creatine transporter deficiency
SLC6A8 deficiency
gene_symbol: UFC1
disease_id: OMIM:618076
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: SDHD
disease_id: OMIM:619167
disease_name: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: SDHD
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: ZNF592
disease_id: ORPHA:83472
disease_name: CAMOS syndrome
Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
SCAR5
gene_symbol: WDR73
disease_id: ORPHA:83472
disease_name: CAMOS syndrome
Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
SCAR5
gene_symbol: WDR73
disease_id: OMIM:251300
disease_name: GALLOWAY-MOWAT SYNDROME 1
gene_symbol: RNF216
disease_id: OMIM:212840
disease_name: GORDON HOLMES SYNDROME
gene_symbol: RNF216
disease_id: ORPHA:1173
disease_name: Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome
Luteinizing hormone-releasing hormone deficiency with ataxia
gene_symbol: NEU1
disease_id: ORPHA:812
disease_name: Sialidosis type 1
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
gene_symbol: NEU1
disease_id: ORPHA:93400
disease_name: Congenital sialidosis type 2
gene_symbol: NEU1
disease_id: ORPHA:93399
disease_name: Juvenile sialidosis type 2
gene_symbol: NPTX1
disease_id: OMIM:620158
disease_name: SPINOCEREBELLAR ATAXIA 50
gene_symbol: COG4
disease_id: ORPHA:263501
disease_name: COG4-CDG
CDG syndrome type IIj
CDG-IIj
CDG2J
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type 2j
Congenital disorder of glycosylation type IIj
gene_symbol: COG4
disease_id: OMIM:613489
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
gene_symbol: PIGY
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGO
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP3
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGW
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PGAP2
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGV
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: PIGL
disease_id: ORPHA:247262
disease_name: Hyperphosphatasia-intellectual disability syndrome
Mabry syndrome
gene_symbol: DLD
disease_id: ORPHA:2394
disease_name: Pyruvate dehydrogenase E3 deficiency
DLD deficiency
Dihydrolipoamide dehydrogenase deficiency
E3-deficient maple syrup urine disease
gene_symbol: DLD
disease_id: OMIM:246900
disease_name: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY
gene_symbol: HTT
disease_id: ORPHA:248111
disease_name: Juvenile Huntington disease
JHD
Juvenile Huntington chorea
gene_symbol: CACNA1G
disease_id: OMIM:618087
disease_name: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
gene_symbol: CACNA1G
disease_id: OMIM:616795
disease_name: SPINOCEREBELLAR ATAXIA 42
gene_symbol: IRF2BPL
disease_id: OMIM:618088
disease_name: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
gene_symbol: DGUOK
disease_id: ORPHA:329314
disease_name: Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency
gene_symbol: CMPK2
disease_id: OMIM:621018
disease_name: OMIM:621018
gene_symbol: PAX6
disease_id: ORPHA:1065
disease_name: Aniridia-cerebellar ataxia-intellectual disability syndrome
Gillespie syndrome
gene_symbol: TOE1
disease_id: OMIM:614969
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 7
gene_symbol: CTSD
disease_id: OMIM:610127
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 10
gene_symbol: LRP12
disease_id: OMIM:164310
disease_name: OCULOPHARYNGODISTAL MYOPATHY 1
gene_symbol: GOSR2
disease_id: OMIM:620166
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES
gene_symbol: GOSR2
disease_id: OMIM:614018
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
gene_symbol: FMR1
disease_id: ORPHA:93256
disease_name: Fragile X-associated tremor/ataxia syndrome
FXTAS 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: STUB1
disease_id: OMIM:618093
disease_name: SPINOCEREBELLAR ATAXIA 48
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: TTPA
disease_id: OMIM:277460
disease_name: ATAXIA WITH VITAMIN 3 DEFICIENCY
gene_symbol: HACE1
disease_id: ORPHA:464282
disease_name: Spastic paraplegia-severe developmental delay-epilepsy syndrome
SPPRS syndrome
Spastic paraplegia-psychomotor retardation-seizures syndrome
gene_symbol: HACE1
disease_id: OMIM:616756
disease_name: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES
gene_symbol: HACE1
disease_id: ORPHA:635
disease_name: Neuroblastoma
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: ITM2B
disease_id: OMIM:117300
disease_name: CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2
gene_symbol: TOP3A
disease_id: OMIM:618098
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
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: PNKP
disease_id: OMIM:613402
disease_name: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY
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: SLC46A1
disease_id: OMIM:229050
disease_name: FOLATE MALABSORPTION, HEREDITARY
gene_symbol: PIGG
disease_id: OMIM:616917
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53
gene_symbol: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
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: FA2H
disease_id: OMIM:612319
disease_name: SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
gene_symbol: SLC52A3
disease_id: OMIM:211530
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 1
gene_symbol: KCND3
disease_id: ORPHA:98772
disease_name: Spinocerebellar ataxia type 19/22
SCA19/22
gene_symbol: KARS1
disease_id: OMIM:619196
disease_name: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
gene_symbol: DPAGT1
disease_id: ORPHA:86309
disease_name: DPAGT1-CDG
CDG syndrome type Ij
CDG-Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: FTL
disease_id: OMIM:606159
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
gene_symbol: SLC7A6OS
disease_id: OMIM:619191
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 12
gene_symbol: BCKDHA
disease_id: OMIM:248600
disease_name: MAPLE SYRUP URINE DISEASE
gene_symbol: PIK3R5
disease_id: ORPHA:64753
disease_name: Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
gene_symbol: PIK3R5
disease_id: OMIM:615217
disease_name: ATAXIA-OCULOMOTOR APRAXIA 3
gene_symbol: SETX
disease_id: ORPHA:64753
disease_name: Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
gene_symbol: SLC2A1
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: SLC2A1
disease_id: ORPHA:71277
disease_name: Classic glucose transporter type 1 deficiency syndrome
Classic GLUT1 deficiency syndrome
Classic GLUT1-DS
De Vivo disease
Encephalopathy due to GLUT1 deficiency
gene_symbol: SLC2A1
disease_id: OMIM:612126
disease_name: GLUT1 DEFICIENCY SYNDROME 2
gene_symbol: SLC2A1
disease_id: OMIM:606777
disease_name: GLUT1 DEFICIENCY SYNDROME 1
gene_symbol: SLC2A1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
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: SLC2A1
disease_id: ORPHA:98811
disease_name: Paroxysmal exertion-induced dyskinesia
DYT18
Dystonia 18
PED
gene_symbol: SLC2A1
disease_id: OMIM:608885
disease_name: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS
gene_symbol: SCN2A
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: SCN2A
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: MT-TL2
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: RHOBTB2
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: SLC1A3
disease_id: ORPHA:2131
disease_name: Alternating hemiplegia of childhood
AHC
gene_symbol: SLC1A3
disease_id: ORPHA:209967
disease_name: Episodic ataxia type 6
gene_symbol: LYRM7
disease_id: OMIM:615838
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8
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: WFS1
disease_id: OMIM:222300
disease_name: WOLFRAM SYNDROME 1
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: PLEKHG4
disease_id: ORPHA:98765
disease_name: Spinocerebellar ataxia type 4
SCA4
gene_symbol: ATXN8
disease_id: ORPHA:98760
disease_name: Spinocerebellar ataxia type 8
SCA8
gene_symbol: ATXN8OS
disease_id: ORPHA:98760
disease_name: Spinocerebellar ataxia type 8
SCA8
gene_symbol: ZFYVE26
disease_id: OMIM:270700
disease_name: SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE
gene_symbol: PGM2L1
disease_id: OMIM:620191
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES
gene_symbol: DLAT
disease_id: OMIM:245348
disease_name: PYRUVATE DEHYDROGENASE E2 DEFICIENCY
gene_symbol: ATP2B3
disease_id: OMIM:302500
disease_name: SPINOCEREBELLAR ATAXIA, X-LINKED 1
gene_symbol: PPP2R2B
disease_id: ORPHA:98762
disease_name: Spinocerebellar ataxia type 12
SCA12
gene_symbol: PDHX
disease_id: OMIM:245349
disease_name: PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY
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: EDNRB
disease_id: OMIM:277580
disease_name: WAARDENBURG SYNDROME, TYPE 4A
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: TBP
disease_id: ORPHA:98759
disease_name: Spinocerebellar ataxia type 17
HDL4
Huntington disease-like 4
SCA17
gene_symbol: TBP
disease_id: OMIM:607136
disease_name: SPINOCEREBELLAR ATAXIA 17
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: POLR3A
disease_id: OMIM:607694
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: POLR3A
disease_id: ORPHA:88637
disease_name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
4H syndrome
gene_symbol: POLR3A
disease_id: ORPHA:447896
disease_name: Tremor-ataxia-central hypomyelination syndrome
TACH syndrome
gene_symbol: SLC35C1
disease_id: ORPHA:99843
disease_name: Leukocyte adhesion deficiency type II
CDG syndrome type IIc
CDG-IIc
CDG2C
LAD-II
Rambam-Hasharon syndrome
SLC35C1-CDG
gene_symbol: ACADM
disease_id: ORPHA:42
disease_name: Medium chain acyl-CoA dehydrogenase deficiency
ACADM deficiency
Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
MCAD deficiency
MCADD
Medium chain acyl-coenzyme A dehydrogenase deficiency
gene_symbol: DPM1
disease_id: OMIM:608799
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
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: SLC6A19
disease_id: ORPHA:2116
disease_name: Hartnup disease
Aminoaciduria, Hartnup type
Hartnup disorder
gene_symbol: CLTRN
disease_id: ORPHA:2116
disease_name: Hartnup disease
Aminoaciduria, Hartnup type
Hartnup disorder
gene_symbol: SDHAF1
disease_id: ORPHA:3208
disease_name: Isolated succinate-CoQ reductase deficiency
Isolated mitochondrial respiratory chain complex II deficiency
Isolated succinate dehydrogenase deficiency
Isolated succinate-coenzyme Q reductase deficiency
Isolated succinate-ubiquinone reductase deficiency
gene_symbol: ASS1
disease_id: OMIM:215700
disease_name: CITRULLINEMIA, CLASSIC
gene_symbol: PSEN1
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: PSEN2
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: TOMM40
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: APP
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: TREM2
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: ABCA7
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: SORL1
disease_id: ORPHA:1020
disease_name: Early-onset autosomal dominant Alzheimer disease
EOFAD
Early-onset familial autosomal dominant Alzheimer disease
Familial Alzheimer disease
gene_symbol: CPLX1
disease_id: ORPHA:352582
disease_name: Familial infantile myoclonic epilepsy
FIME
Familial infantile myoclonus epilepsy
gene_symbol: CPLX1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: TBC1D24
disease_id: ORPHA:352582
disease_name: Familial infantile myoclonic epilepsy
FIME
Familial infantile myoclonus epilepsy
gene_symbol: TBC1D24
disease_id: OMIM:605021
disease_name: MYOCLONIC EPILEPSY, FAMILIAL INFANTILE
gene_symbol: VWA3B
disease_id: OMIM:616948
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 22
gene_symbol: ATXN7
disease_id: ORPHA:94147
disease_name: Spinocerebellar ataxia type 7
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
gene_symbol: DNAJC5
disease_id: OMIM:162350
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT
gene_symbol: DHX30
disease_id: OMIM:617804
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
gene_symbol: REEP2
disease_id: OMIM:615625
disease_name: SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE
gene_symbol: GJC2
disease_id: OMIM:613206
disease_name: SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE
gene_symbol: GJC2
disease_id: OMIM:608804
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 2
gene_symbol: GJC2
disease_id: ORPHA:320401
disease_name: Autosomal recessive spastic paraplegia type 44
SPG44
gene_symbol: TELO2
disease_id: OMIM:616954
disease_name: YOU-HOOVER-FONG SYNDROME
gene_symbol: TELO2
disease_id: ORPHA:488642
disease_name: TELO2-related intellectual disability-neurodevelopmental disorder
You-Hoover-Fong syndrome
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: KIF5A
disease_id: OMIM:604187
disease_name: SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT
gene_symbol: OPA1
disease_id: OMIM:210000
disease_name: BEHR SYNDROME
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: OPA1
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: OPA1
disease_id: OMIM:165500
disease_name: OPTIC ATROPHY 1
gene_symbol: OPA1
disease_id: OMIM:125250
disease_name: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY
gene_symbol: WDR81
disease_id: OMIM:610185
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2
gene_symbol: WDR81
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: CSPP1
disease_id: OMIM:615636
disease_name: JOUBERT SYNDROME 21
gene_symbol: CSPP1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCN2
disease_id: OMIM:275350
disease_name: TRANSCOBALAMIN II DEFICIENCY
gene_symbol: AMACR
disease_id: OMIM:614307
disease_name: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
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: RYR1
disease_id: ORPHA:466650
disease_name: Exercise-induced malignant hyperthermia
Exertional heat stroke
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: BSCL2
disease_id: ORPHA:363400
disease_name: Severe neurodegenerative syndrome with lipodystrophy
Severe neurodegenerative syndrome due to BSCL2 deficiency
gene_symbol: BSCL2
disease_id: OMIM:615924
disease_name: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
gene_symbol: CTDP1
disease_id: OMIM:604168
disease_name: CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
gene_symbol: CTDP1
disease_id: ORPHA:48431
disease_name: Congenital cataracts-facial dysmorphism-neuropathy syndrome
CCFDN
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
gene_symbol: HEXB
disease_id: ORPHA:309162
disease_name: Sandhoff disease, juvenile form
Beta-hexosaminidase subunit beta deficiency, juvenile form
GM2 gangliosidosis, Sandhoff variant, juvenile form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form
gene_symbol: RTN4IP1
disease_id: OMIM:616732
disease_name: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES
gene_symbol: DNAJC19
disease_id: OMIM:610198
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE V
gene_symbol: DNAJC19
disease_id: ORPHA:66634
disease_name: Dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
gene_symbol: CDC42
disease_id: OMIM:616737
disease_name: TAKENOUCHI-KOSAKI SYNDROME
gene_symbol: AARS2
disease_id: OMIM:615889
disease_name: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
gene_symbol: ACO2
disease_id: OMIM:614559
disease_name: INFANTILE CEREBELLAR-RETINAL DEGENERATION
gene_symbol: HIVEP2
disease_id: OMIM:616977
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43
gene_symbol: L1CAM
disease_id: ORPHA:306617
disease_name: X-linked complicated spastic paraplegia type 1
SPG1
gene_symbol: CA8
disease_id: OMIM:613227
disease_name: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3
gene_symbol: CA8
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: TINF2
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TINF2
disease_id: OMIM:268130
disease_name: REVESZ SYNDROME
gene_symbol: TINF2
disease_id: ORPHA:3088
disease_name: Revesz syndrome
Dyskeratosis congenita with bilateral exudative retinopathy
Retinopathy-anemia-central nervous system anomalies syndrome
Revesz-DeBuse syndrome
gene_symbol: TINF2
disease_id: OMIM:613990
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
gene_symbol: TINF2
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: TERC
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TERT
disease_id: OMIM:127550
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: NDUFA1
disease_id: OMIM:301020
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: NDUFA1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: COQ2
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: COQ2
disease_id: OMIM:146500
disease_name: MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO
gene_symbol: APTX
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: APTX
disease_id: OMIM:208920
disease_name: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
gene_symbol: APTX
disease_id: ORPHA:1168
disease_name: Ataxia-oculomotor apraxia type 1
AOA1
gene_symbol: GPI
disease_id: OMIM:613470
disease_name: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: SLC19A2
disease_id: OMIM:249270
disease_name: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
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: TMEM231
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: TMEM231
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TMEM138
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: ZNF423
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: CC2D2A
disease_id: ORPHA:2318
disease_name: Joubert syndrome with oculorenal defect
Arima syndrome
CORS
Cerebellooculorenal syndrome
Dekaban-Arima syndrome
JS type B
JS-OR
Joubert syndrome with Senior-Loken syndrome
gene_symbol: CC2D2A
disease_id: ORPHA:1454
disease_name: Joubert syndrome with hepatic defect
COACH syndrome
Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
Gentile syndrome
JS-H
Joubert syndrome with congenital hepatic fibrosis
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: UROC1
disease_id: OMIM:276880
disease_name: UROCANASE DEFICIENCY
gene_symbol: UROC1
disease_id: ORPHA:210128
disease_name: Urocanic aciduria
Encephalopathy due to urocanase deficiency
gene_symbol: DLL1
disease_id: OMIM:618709
disease_name: NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
gene_symbol: COL18A1
disease_id: OMIM:267750
disease_name: KNOBLOCH SYNDROME 1
gene_symbol: STARD7
disease_id: OMIM:607876
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2
gene_symbol: SLC17A5
disease_id: OMIM:604369
disease_name: SALLA DISEASE
gene_symbol: MRPL12
disease_id: OMIM:618951
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45
gene_symbol: ZSWIM6
disease_id: OMIM:617865
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
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: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: BCS1L
disease_id: OMIM:124000
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: LITAF
disease_id: OMIM:601098
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
gene_symbol: SPG11
disease_id: ORPHA:2822
disease_name: Autosomal recessive spastic paraplegia type 11
Nakamura-Osame syndrome
SPG11
Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
gene_symbol: SPG11
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: POU3F4
disease_id: ORPHA:1435
disease_name: Xq21 microdeletion syndrome
Ayazi syndrome
Del(X)(q21)
Monosomy Xq21
gene_symbol: NPC2
disease_id: OMIM:607625
disease_name: NIEMANN-PICK DISEASE, TYPE C2
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: CEP104
disease_id: OMIM:616781
disease_name: JOUBERT SYNDROME 25
gene_symbol: CEP104
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: NDUFS4
disease_id: OMIM:252010
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: NDUFS4
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MED13L
disease_id: OMIM:616789
disease_name: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS
gene_symbol: MED13L
disease_id: ORPHA:369891
disease_name: Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
MED13L-related intellectual disability syndrome
gene_symbol: OFD1
disease_id: ORPHA:2750
disease_name: Orofaciodigital syndrome type 1
OFD1
OFDI
OFDSI
Oral-facial-digital syndrome type 1
Papillon-Léage-Psaume syndrome
gene_symbol: OFD1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: OFD1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KCNMA1
disease_id: OMIM:618729
disease_name: LIANG-WANG SYNDROME
gene_symbol: AAAS
disease_id: OMIM:231550
disease_name: ACHALASIA-ADDISONIANISM-ALACRIMA 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: TOPORS
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: KIAA0753
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: KIAA0753
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN3
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: TCTN3
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: PDE6D
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: PDE6D
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CPLANE1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: CPLANE1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CPLANE1
disease_id: OMIM:614615
disease_name: JOUBERT SYNDROME 17
gene_symbol: FAM149B1
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: KIF7
disease_id: ORPHA:2754
disease_name: Orofaciodigital syndrome type 6
Joubert syndrome with oral-facial-digital syndrome
Joubert syndrome with orofaciodigital defect
OFD6
Oral-facial-digital syndrome type 6
Polydactyly-cleft lip/palate-psychomotor retardation syndrome
Váradi syndrome
Váradi-Papp syndrome
gene_symbol: PNPT1
disease_id: OMIM:608703
disease_name: SPINOCEREBELLAR ATAXIA 25
gene_symbol: RIMS2
disease_id: OMIM:618970
disease_name: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
gene_symbol: BRCA1
disease_id: OMIM:617883
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP S
gene_symbol: NEFL
disease_id: OMIM:617882
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: PLA2G6
disease_id: OMIM:256600
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: SNRPN
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: SNRPN
disease_id: OMIM:105830
disease_name: ANGELMAN SYNDROME
gene_symbol: ATP10A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: PRDM8
disease_id: ORPHA:324290
disease_name: Early-onset Lafora body disease
gene_symbol: PRDM8
disease_id: OMIM:616640
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 10
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: NDUFB11
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF2
disease_id: OMIM:618233
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: TIMMDC1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB10
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFV1
disease_id: OMIM:618225
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: FOXRED1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF8
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: TMEM126B
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: MT-ND3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
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: NDUFV2
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS6
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS8
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFAF5
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFA11
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFB3
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NUBPL
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NUBPL
disease_id: OMIM:618242
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21
gene_symbol: NDUFAF4
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS7
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS7
disease_id: OMIM:618224
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: NDUFA6
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS1
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: NDUFS1
disease_id: OMIM:618226
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
gene_symbol: NDUFB9
disease_id: ORPHA:2609
disease_name: Isolated complex I deficiency
Isolated NADH-CoQ reductase deficiency
Isolated NADH-coenzyme Q reductase deficiency
Isolated NADH-ubiquinone reductase deficiency
Isolated mitochondrial respiratory chain complex I deficiency
gene_symbol: GMPPB
disease_id: OMIM:615350
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
gene_symbol: H4C5
disease_id: OMIM:619950
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 3
gene_symbol: SURF1
disease_id: OMIM:616684
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K
gene_symbol: SURF1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
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: HMBS
disease_id: OMIM:620704
disease_name: ENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: HMBS
disease_id: OMIM:620711
disease_name: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
gene_symbol: GRID2
disease_id: OMIM:616204
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
gene_symbol: MORC2
disease_id: OMIM:616688
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Z
gene_symbol: TRAPPC11
disease_id: OMIM:615356
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
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: GLB1
disease_id: OMIM:230600
disease_name: GM1-GANGLIOSIDOSIS, TYPE II
gene_symbol: GLB1
disease_id: OMIM:230650
disease_name: GM1-GANGLIOSIDOSIS, TYPE III
gene_symbol: GLB1
disease_id: OMIM:253010
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVB
gene_symbol: DKC1
disease_id: OMIM:305000
disease_name: DYSKERATOSIS CONGENITA, X-LINKED
gene_symbol: DKC1
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: ERCC4
disease_id: ORPHA:90321
disease_name: Cockayne syndrome type 1
Cockayne syndrome type I
gene_symbol: ERCC4
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC4
disease_id: OMIM:278760
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F
gene_symbol: ERCC4
disease_id: ORPHA:220295
disease_name: Xeroderma pigmentosum-Cockayne syndrome complex
XP/CS complex
gene_symbol: VLDLR
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: ATP8A2
disease_id: ORPHA:1766
disease_name: Dysequilibrium syndrome
CAMRQ syndrome
Cerebellar ataxia-intellectual disability-dysequilibrium syndrome
Non-progressive cerebellar ataxia-intellectual disability syndrome
UTS
Uner Tan syndrome
gene_symbol: ERCC1
disease_id: ORPHA:90322
disease_name: Cockayne syndrome type 2
Cockayne syndrome type II
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: CTSF
disease_id: OMIM:615362
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 13
gene_symbol: PIGK
disease_id: OMIM:618879
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES
gene_symbol: NUTM2B-AS1
disease_id: OMIM:618637
disease_name: OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1
gene_symbol: GFAP
disease_id: OMIM:203450
disease_name: ALEXANDER DISEASE
gene_symbol: GFAP
disease_id: ORPHA:363722
disease_name: Alexander disease type II
AxD type II
gene_symbol: GFAP
disease_id: ORPHA:363717
disease_name: Alexander disease type I
AxD type I
gene_symbol: YME1L1
disease_id: OMIM:617302
disease_name: OPTIC ATROPHY 11
gene_symbol: CLN6
disease_id: OMIM:204300
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
gene_symbol: SEMA6B
disease_id: OMIM:618876
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 11
gene_symbol: ACOX2
disease_id: OMIM:617308
disease_name: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6
gene_symbol: KCNN2
disease_id: OMIM:619725
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES
gene_symbol: ETHE1
disease_id: ORPHA:51188
disease_name: Ethylmalonic encephalopathy
gene_symbol: ETHE1
disease_id: OMIM:602473
disease_name: ENCEPHALOPATHY, ETHYLMALONIC
gene_symbol: SLC35A1
disease_id: OMIM:603585
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf
gene_symbol: ATP6V0A1
disease_id: OMIM:619971
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
gene_symbol: PUM1
disease_id: OMIM:620719
disease_name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
gene_symbol: ABCD1
disease_id: ORPHA:139396
disease_name: X-linked cerebral adrenoleukodystrophy
X-CALD
gene_symbol: RFT1
disease_id: ORPHA:244310
disease_name: RFT1-CDG
CDG syndrome type In
CDG-In
CDG1N
Carbohydrate deficient glycoprotein syndrome type In
Congenital disorder of glycosylation type 1n
Congenital disorder of glycosylation type In
Man5GlcNAc2-PP-Dol flippase deficiency
gene_symbol: RFT1
disease_id: OMIM:612015
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In
gene_symbol: CAMK2B
disease_id: OMIM:617799
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
gene_symbol: WARS2
disease_id: OMIM:619738
disease_name: PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET
gene_symbol: WARS2
disease_id: ORPHA:572798
disease_name: WARS2-related combined oxidative phosphorylation defect
Mitochondrial tryptophanyl-tRNA synthetase deficiency
gene_symbol: WARS2
disease_id: OMIM:617710
disease_name: NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES
gene_symbol: ABHD16A
disease_id: OMIM:619735
disease_name: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE
gene_symbol: PRNP
disease_id: OMIM:600072
disease_name: FATAL FAMILIAL INSOMNIA
gene_symbol: PRNP
disease_id: ORPHA:466
disease_name: Fatal familial insomnia
FFI
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: OMIM:617915
disease_name: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
gene_symbol: LETM1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: LETM1
disease_id: OMIM:620089
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
gene_symbol: NSD2
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NKX6-2
disease_id: OMIM:617560
disease_name: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: NKX6-2
disease_id: ORPHA:527497
disease_name: NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia
SPAX8
gene_symbol: TMEM70
disease_id: OMIM:614052
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: C19orf12
disease_id: OMIM:614298
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
gene_symbol: TMEM107
disease_id: OMIM:617563
disease_name: OROFACIODIGITAL SYNDROME XVI
gene_symbol: TMEM107
disease_id: OMIM:617562
disease_name: MECKEL SYNDROME 13
gene_symbol: RNASEH1
disease_id: OMIM:616479
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2
gene_symbol: BOLA3
disease_id: OMIM:614299
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA
gene_symbol: SLC25A42
disease_id: OMIM:618416
disease_name: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION
gene_symbol: TCTN1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: SUFU
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: OMIM:617757
disease_name: JOUBERT SYNDROME 32
gene_symbol: ARL13B
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: ARL13B
disease_id: OMIM:612291
disease_name: JOUBERT SYNDROME 8
gene_symbol: HYLS1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KATNIP
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TMEM218
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: KIAA0586
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN2
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TCTN2
disease_id: OMIM:616654
disease_name: JOUBERT SYNDROME 24
gene_symbol: B9D2
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: PIBF1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: PIBF1
disease_id: OMIM:617767
disease_name: JOUBERT SYNDROME 33
gene_symbol: ARMC9
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: TOGARAM1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: CBY1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: B9D1
disease_id: ORPHA:475
disease_name: Joubert syndrome
CPD IV
Cerebelloparenchymal disorder IV
Classic Joubert syndrome
Joubert syndrome type A
Joubert-Boltshauser syndrome
Pure Joubert syndrome
gene_symbol: B9D1
disease_id: OMIM:617120
disease_name: JOUBERT SYNDROME 27
gene_symbol: MFSD2A
disease_id: OMIM:616486
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES
gene_symbol: SGPL1
disease_id: OMIM:617575
disease_name: NEPHROTIC SYNDROME, TYPE 14
gene_symbol: PIGT
disease_id: OMIM:615398
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
gene_symbol: UQCRQ
disease_id: OMIM:615159
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
gene_symbol: TTC19
disease_id: OMIM:615157
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: DHX9
disease_id: OMIM:620988
disease_name: OMIM:620988
gene_symbol: SLC4A10
disease_id: OMIM:620746
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
gene_symbol: ZNF142
disease_id: OMIM:618425
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS
gene_symbol: NUP214
disease_id: OMIM:618426
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9
gene_symbol: SUMF1
disease_id: OMIM:272200
disease_name: MULTIPLE SULFATASE DEFICIENCY
gene_symbol: PRF1
disease_id: OMIM:603553
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: OTUD6B
disease_id: ORPHA:505237
disease_name: Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
gene_symbol: POLR1C
disease_id: OMIM:616494
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 11
gene_symbol: POLR1C
disease_id: ORPHA:88637
disease_name: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
4H syndrome
gene_symbol: STN1
disease_id: OMIM:617341
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
gene_symbol: ATG5
disease_id: OMIM:617584
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25
gene_symbol: TCF20
disease_id: OMIM:618430
disease_name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: ABCB7
disease_id: ORPHA:2802
disease_name: X-linked sideroblastic anemia and spinocerebellar ataxia
Pagon-Bird-Detter syndrome
X-linked sideroblastic anemia with ataxia
XLSA-A
gene_symbol: ABCB7
disease_id: OMIM:301310
disease_name: ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: CP
disease_id: OMIM:604290
disease_name: ACERULOPLASMINEMIA
gene_symbol: MFSD8
disease_id: OMIM:610951
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 7
gene_symbol: CHP1
disease_id: OMIM:618438
disease_name: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE
gene_symbol: GCLC
disease_id: ORPHA:33574
disease_name: Glutamate-cysteine ligase deficiency
Gamma-glutamylcysteine synthetase deficiency
gene_symbol: PTRH2
disease_id: OMIM:616263
disease_name: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET
gene_symbol: PTRH2
disease_id: ORPHA:456312
disease_name: Infantile multisystem neurologic-endocrine-pancreatic disease
IMNEPD
gene_symbol: MAPK8IP3
disease_id: OMIM:618443
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
gene_symbol: GABRB3
disease_id: OMIM:617113
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43
gene_symbol: ATP5MK
disease_id: OMIM:618683
disease_name: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: ATP5MK
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: TMEM63A
disease_id: OMIM:618688
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE
gene_symbol: ALG6
disease_id: ORPHA:79320
disease_name: ALG6-CDG
CDG syndrome type Ic
CDG-Ic
CDG1C
Carbohydrate deficient glycoprotein syndrome type Ic
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type Ic
Glucosyltransferase 1 deficiency
gene_symbol: ALG6
disease_id: OMIM:603147
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic
gene_symbol: AP2M1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: CHD2
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: SLC6A1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: SLC6A1
disease_id: OMIM:616421
disease_name: MYOCLONIC-ATONIC EPILEPSY
gene_symbol: ALG8
disease_id: ORPHA:79325
disease_name: ALG8-CDG
CDG syndrome type Ih
CDG-Ih
CDG1H
Carbohydrate deficient glycoprotein syndrome type Ih
Congenital disorder of glycosylation type 1h
Congenital disorder of glycosylation type Ih
Glucosyltransferase 2 deficiency
gene_symbol: PSMC3IP
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: POLR3H
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: NR5A1
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: ZSWIM7
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: BMP15
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: FIGLA
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: NUP107
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: SPIDR
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: FSHR
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: MRPS22
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: BNC1
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: MSH4
disease_id: ORPHA:243
disease_name: 46,XX gonadal dysgenesis
46,XX complete gonadal dysgenesis
46,XX ovarian dysgenesis
46,XX pure gonadal dysgenesis
Hypergonadotropic ovarian dysgenesis
XX female gonadal dysgenesis
XX-GD
gene_symbol: ANOS1
disease_id: OMIM:308700
disease_name: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA
gene_symbol: ANOS1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: STXBP1
disease_id: ORPHA:599373
disease_name: STXBP1-related encephalopathy
gene_symbol: MT-ATP8
disease_id: ORPHA:480
disease_name: Kearns-Sayre syndrome
gene_symbol: MT-ATP8
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: NADK2
disease_id: OMIM:616034
disease_name: 2,4-DIENOYL-CoA REDUCTASE DEFICIENCY
gene_symbol: SPTAN1
disease_id: OMIM:620538
disease_name: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA
gene_symbol: SPTAN1
disease_id: OMIM:620540
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY
gene_symbol: SYT1
disease_id: OMIM:618218
disease_name: BAKER-GORDON SYNDROME
gene_symbol: SYT1
disease_id: ORPHA:522077
disease_name: Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
BAGOS
Baker-Gordon syndrome
SYT1-related neurodevelopmental disorder
gene_symbol: PIGA
disease_id: OMIM:301072
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: SUCLA2
disease_id: ORPHA:1933
disease_name: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Booth-Haworth-Dilling syndrome
Mitochondrial encephalomyopathy-aminoacidopathy syndrome
mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
gene_symbol: NKX2-1
disease_id: OMIM:610978
disease_name: CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION
gene_symbol: NKX2-1
disease_id: ORPHA:209905
disease_name: Brain-lung-thyroid syndrome
Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
gene_symbol: FGFR1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SEMA3A
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SPRY4
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FLRT3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROKR2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: NDNF
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FGF8
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FEZF1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DCC
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: IL17RD
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: CCDC141
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: PROK2
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: CHD7
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: DUSP6
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: TACR3
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: WDR11
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HS6ST1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: HESX1
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: FGF17
disease_id: ORPHA:478
disease_name: Kallmann syndrome
Congenital hypogonadotropic hypogonadism with anosmia
Olfacto-genital pathological sequence
gene_symbol: SPEN
disease_id: OMIM:619312
disease_name: RADIO-TARTAGLIA SYNDROME
gene_symbol: TNPO2
disease_id: OMIM:619556
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES
gene_symbol: SYNE1
disease_id: ORPHA:88644
disease_name: Autosomal recessive ataxia, Beauce type
ARCA1
Autosomal recessive cerebellar ataxia type 1
SCAR8
gene_symbol: POLR3K
disease_id: OMIM:619310
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 21
gene_symbol: NAA60
disease_id: OMIM:620786
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE
gene_symbol: SNF8
disease_id: OMIM:620784
disease_name: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
gene_symbol: TSPOAP1
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: TH
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: TSFM
disease_id: OMIM:610505
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3
gene_symbol: SLC9A1
disease_id: OMIM:616291
disease_name: LICHTENSTEIN-KNORR SYNDROME
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: CCDC88C
disease_id: OMIM:616053
disease_name: SPINOCEREBELLAR ATAXIA 40
gene_symbol: CSF1R
disease_id: OMIM:618476
disease_name: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
gene_symbol: SNAP29
disease_id: ORPHA:66631
disease_name: CEDNIK syndrome
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
gene_symbol: SQSTM1
disease_id: OMIM:617145
disease_name: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET
gene_symbol: WARS1
disease_id: OMIM:620317
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
gene_symbol: NDUFAF6
disease_id: OMIM:618239
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
gene_symbol: AP4M1
disease_id: OMIM:612936
disease_name: SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE
gene_symbol: L2HGDH
disease_id: OMIM:236792
disease_name: L-2-HYDROXYGLUTARIC ACIDURIA
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: 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: GEMIN5
disease_id: OMIM:619333
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION
gene_symbol: FLVCR1
disease_id: ORPHA:88628
disease_name: Posterior column ataxia-retinitis pigmentosa syndrome
Autosomal recessive posterior column ataxia and retinitis pigmentosa
PCARP
gene_symbol: FLVCR1
disease_id: OMIM:609033
disease_name: POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA
gene_symbol: EXOSC5
disease_id: OMIM:619576
disease_name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
gene_symbol: GABRB1
disease_id: OMIM:617153
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45
gene_symbol: ROGDI
disease_id: OMIM:226750
disease_name: KOHLSCHUTTER-TONZ SYNDROME
gene_symbol: PYCR2
disease_id: ORPHA:481152
disease_name: PYCR2-related microcephaly-progressive leukoencephalopathy
gene_symbol: PMPCA
disease_id: OMIM:213200
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2
gene_symbol: PMPCA
disease_id: ORPHA:1170
disease_name: Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive spinocerebellar ataxia type 2
SCAR2
gene_symbol: NPC1
disease_id: OMIM:257220
disease_name: NIEMANN-PICK DISEASE, TYPE C1
gene_symbol: TAT
disease_id: ORPHA:28378
disease_name: Tyrosinemia type 2
Keratosis palmoplantaris-corneal dystrophy syndrome
Oculocutaneous tyrosinemia
Richner-Hanhart syndrome
Tyrosinemia due to TAT deficiency
Tyrosinemia due to tyrosine aminotransferase deficiency
Tyrosinemia type II
gene_symbol: GRIK2
disease_id: OMIM:619580
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SPTBN2
disease_id: OMIM:600224
disease_name: SPINOCEREBELLAR ATAXIA 5
gene_symbol: ARCN1
disease_id: OMIM:617164
disease_name: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY
gene_symbol: RNASET2
disease_id: OMIM:612951
disease_name: LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY
gene_symbol: TPP1
disease_id: OMIM:609270
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
gene_symbol: TPP1
disease_id: OMIM:204500
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 2
gene_symbol: SPR
disease_id: OMIM:612716
disease_name: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
gene_symbol: TRNT1
disease_id: OMIM:616084
disease_name: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
gene_symbol: ACADS
disease_id: OMIM:201470
disease_name: ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF
gene_symbol: OPHN1
disease_id: ORPHA:137831
disease_name: X-linked intellectual disability-cerebellar hypoplasia syndrome
OPHN1 syndrome
Oligophrenin-1 syndrome
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: GMPPA
disease_id: OMIM:615510
disease_name: ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME
gene_symbol: ATAD3A
disease_id: OMIM:617183
disease_name: HAREL-YOON SYNDROME
gene_symbol: NAXE
disease_id: OMIM:617186
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1
gene_symbol: ALG11
disease_id: ORPHA:280071
disease_name: ALG11-CDG
CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
gene_symbol: AGTPBP1
disease_id: OMIM:618276
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY
gene_symbol: AGTPBP1
disease_id: ORPHA:2254
disease_name: Pontocerebellar hypoplasia type 1
Norman disease
PCH1
gene_symbol: GBA2
disease_id: ORPHA:320391
disease_name: Autosomal recessive spastic paraplegia type 46
SPG46
gene_symbol: NUP62
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: ADAR
disease_id: ORPHA:225154
disease_name: Familial infantile bilateral striatal necrosis
Familial IBSN
Familial infantile striatonigral degeneration
Familial infantile striatonigral necrosis
gene_symbol: PPP2R5D
disease_id: ORPHA:457279
disease_name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
gene_symbol: BCKDK
disease_id: OMIM:614923
disease_name: BRANCHED-CHAIN KETO ACID DEHYDROGENASE KINASE DEFICIENCY
gene_symbol: DHFR
disease_id: OMIM:613839
disease_name: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
gene_symbol: OXR1
disease_id: OMIM:213000
disease_name: CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY
gene_symbol: SRD5A3
disease_id: ORPHA:324737
disease_name: SRD5A3-CDG
CDG syndrome type Iq
CDG-Iq
CDG1Q
Congenital disorder of glycosylation type 1q
Congenital disorder of glycosylation type Iq
gene_symbol: SLC19A3
disease_id: ORPHA:263410
disease_name: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
gene_symbol: VPS41
disease_id: OMIM:619389
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29
gene_symbol: AMFR
disease_id: OMIM:620379
disease_name: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE
gene_symbol: NOL3
disease_id: OMIM:614937
disease_name: MYOCLONUS, FAMILIAL, 1
gene_symbol: HIBCH
disease_id: OMIM:250620
disease_name: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY
gene_symbol: MYCN
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: ALK
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: LIN28B
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: LMO1
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: PHOX2B
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: VPS4A
disease_id: OMIM:619273
disease_name: CIMDAG SYNDROME
gene_symbol: LRPPRC
disease_id: OMIM:220111
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 5
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: MTRFR
disease_id: ORPHA:254930
disease_name: Combined oxidative phosphorylation defect type 7
COXPD7
Severe C12ORF65-related COXPD
Severe C12ORF65-related combined oxidative phosphorylation defect
gene_symbol: MTRFR
disease_id: OMIM:613559
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7
gene_symbol: BEAN1
disease_id: OMIM:117210
disease_name: SPINOCEREBELLAR ATAXIA 31
gene_symbol: COX10
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX10
disease_id: OMIM:619046
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3
gene_symbol: MT-TN
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: SCO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: FASTKD2
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: TACO1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX6B1
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: COX15
disease_id: OMIM:220110
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1
gene_symbol: CHCHD10
disease_id: OMIM:615911
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2
gene_symbol: FOXI1
disease_id: ORPHA:705
disease_name: Pendred syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome
gene_symbol: SLC26A4
disease_id: ORPHA:705
disease_name: Pendred syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome
gene_symbol: PCNA
disease_id: OMIM:615919
disease_name: ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
gene_symbol: VARS2
disease_id: OMIM:615917
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
gene_symbol: UBE3C
disease_id: OMIM:620270
disease_name: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: GLRX5
disease_id: ORPHA:401866
disease_name: Childhood-onset spasticity with hyperglycinemia
Childhood-onset spasticity with variant non-ketotic hyperglycinemia
Spasticity-ataxia-gait anomalies syndrome
gene_symbol: SLC9A6
disease_id: OMIM:300243
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE
gene_symbol: KCNA1
disease_id: ORPHA:972
disease_name: Hereditary continuous muscle fiber activity
gene_symbol: ATP5F1E
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
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: ATPAF2
disease_id: ORPHA:254913
disease_name: Isolated ATP synthase deficiency
Isolated mitochondrial respiratory chain complex V deficiency
gene_symbol: COX20
disease_id: OMIM:619054
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: SARDH
disease_id: ORPHA:3129
disease_name: Sarcosinemia
Sarcosine dehydrogenase complex deficiency
gene_symbol: BTD
disease_id: OMIM:253260
disease_name: BIOTINIDASE DEFICIENCY
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
gene_symbol: PDCD6IP
disease_id: OMIM:620047
disease_name: MICROCEPHALY 29, PRIMARY, AUTOSOMAL RECESSIVE
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: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: NALCN
disease_id: ORPHA:562528
disease_name: Congenital limbs-face contractures-hypotonia-developmental delay syndrome
CLIFAHDD syndrome
gene_symbol: SETD5
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: BRPF1
disease_id: ORPHA:435638
disease_name: 3p25.3 microdeletion syndrome
Del(3)p(25.3)
Intellectual disability-epilepsy-stereotypic hand movement syndrome
Monosomy 3p25.3
gene_symbol: COXFA4
disease_id: OMIM:619065
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21
gene_symbol: ABCA5
disease_id: ORPHA:2026
disease_name: Gingival fibromatosis-hypertrichosis syndrome
CGHT
Congenital generalized hypertrichosis terminalis
Hirsutism-congenital gingival hyperplasia syndrome
Hypertrichosis with or without gingival hyperplasia
gene_symbol: ABHD12
disease_id: OMIM:612674
disease_name: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT
gene_symbol: DAB1
disease_id: OMIM:615945
disease_name: SPINOCEREBELLAR ATAXIA 37
gene_symbol: DARS2
disease_id: OMIM:611105
disease_name: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
gene_symbol: TUBB4A
disease_id: OMIM:612438
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 6
gene_symbol: PRRT2
disease_id: ORPHA:98811
disease_name: Paroxysmal exertion-induced dyskinesia
DYT18
Dystonia 18
PED
gene_symbol: PRRT2
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: PGK1
disease_id: ORPHA:713
disease_name: Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
GSD due to phosphoglycerate kinase 1 deficiency
Glycogenosis due to phosphoglycerate kinase 1 deficiency
gene_symbol: PGK1
disease_id: OMIM:300653
disease_name: PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
gene_symbol: RUBCN
disease_id: OMIM:615705
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15
gene_symbol: SCN9A
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: STX1B
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: GABRD
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: CPA6
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: SCN1B
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: FGF13
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: ADGRV1
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: ADGRV1
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
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: 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: VRK1
disease_id: OMIM:607596
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
gene_symbol: ERCC5
disease_id: OMIM:278780
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G
gene_symbol: ERCC5
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC5
disease_id: ORPHA:220295
disease_name: Xeroderma pigmentosum-Cockayne syndrome complex
XP/CS complex
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:99966
disease_name: Atypical teratoid rhabdoid tumor
ATRT
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: ELOVL5
disease_id: OMIM:615957
disease_name: SPINOCEREBELLAR ATAXIA 38
gene_symbol: FUS
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SIGMAR1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SPTLC1
disease_id: ORPHA:300605
disease_name: Juvenile amyotrophic lateral sclerosis
JALS
Juvenile Charcot disease
Juvenile Lou Gehrig disease
gene_symbol: SMAD4
disease_id: OMIM:139210
disease_name: MYHRE SYNDROME
gene_symbol: SYT14
disease_id: ORPHA:284271
disease_name: Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Autosomal recessive spinocerebellar ataxia type 11
SCAR11
gene_symbol: SYT14
disease_id: OMIM:614229
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
gene_symbol: FRMD4A
disease_id: OMIM:616819
disease_name: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
gene_symbol: HNRNPH1
disease_id: OMIM:620083
disease_name: NEURODEVELOPMENTAL DISORDER WITH CRANIOFACIAL DYSMORPHISM AND SKELETAL DEFECTS
gene_symbol: GSS
disease_id: OMIM:266130
disease_name: GLUTATHIONE SYNTHETASE DEFICIENCY
gene_symbol: NARS1
disease_id: OMIM:619092
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES
gene_symbol: NEMF
disease_id: OMIM:619099
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: CNTNAP2
disease_id: ORPHA:163681
disease_name: CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
gene_symbol: MLC1
disease_id: ORPHA:2478
disease_name: Megalencephalic leukoencephalopathy with subcortical cysts
MLC
Megalencephalic leukodystrophy
Megalencephaly-cystic leukodystrophy syndrome
Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Van der Knaap syndrome
gene_symbol: MLC1
disease_id: OMIM:604004
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1
gene_symbol: NAGS
disease_id: ORPHA:927
disease_name: Hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS deficiency
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: RTEL1
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: ACD
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: FRMD5
disease_id: OMIM:620094
disease_name: NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA
gene_symbol: OPA3
disease_id: OMIM:258501
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE III
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: OPA3
disease_id: ORPHA:67047
disease_name: 3-methylglutaconic aciduria type 3
Autosomal recessive optic atrophy plus syndrome
Autosomal recessive optic atrophy type 3
Costeff optic atrophy syndrome
Costeff syndrome
Infantile optic atrophy with chorea and spastic paraplegia
MGA3
gene_symbol: CTCF
disease_id: OMIM:615502
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 21
gene_symbol: ERCC2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: ERCC2
disease_id: ORPHA:220295
disease_name: Xeroderma pigmentosum-Cockayne syndrome complex
XP/CS complex
gene_symbol: ERCC2
disease_id: OMIM:278730
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
gene_symbol: XPA
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: XPA
disease_id: OMIM:278700
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
gene_symbol: XPC
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: DDB2
disease_id: ORPHA:910
disease_name: Xeroderma pigmentosum
gene_symbol: MARS2
disease_id: OMIM:611390
disease_name: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE
gene_symbol: SPAST
disease_id: ORPHA:100985
disease_name: Autosomal dominant spastic paraplegia type 4
SPG4
gene_symbol: VPS13D
disease_id: OMIM:607317
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4
gene_symbol: MICOS13
disease_id: ORPHA:67047
disease_name: 3-methylglutaconic aciduria type 3
Autosomal recessive optic atrophy plus syndrome
Autosomal recessive optic atrophy type 3
Costeff optic atrophy syndrome
Costeff syndrome
Infantile optic atrophy with chorea and spastic paraplegia
MGA3
gene_symbol: KIF1B
disease_id: OMIM:256700
disease_name: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
gene_symbol: COQ8A
disease_id: OMIM:612016
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 4
gene_symbol: SARS1
disease_id: OMIM:617709
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
gene_symbol: GALT
disease_id: ORPHA:79239
disease_name: Classic galactosemia
GALT deficiency
Galactose-1-phosphate uridyltransferase deficiency
Galactosemia type 1
gene_symbol: MECP2
disease_id: OMIM:300055
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
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: TUBB
disease_id: OMIM:615771
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
gene_symbol: MAN1B1
disease_id: OMIM:614202
disease_name: RAFIQ SYNDROME
gene_symbol: PMPCB
disease_id: OMIM:617954
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6
gene_symbol: EPRS1
disease_id: OMIM:617951
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 15
gene_symbol: HLCS
disease_id: ORPHA:79242
disease_name: Holocarboxylase synthetase deficiency
Early-onset multiple carboxylase deficiency
Neonatal multiple carboxylase deficiency
gene_symbol: PDHA1
disease_id: ORPHA:79243
disease_name: Pyruvate dehydrogenase E1-alpha deficiency
PDHAD
Pyruvate decarboxylase deficiency
Pyruvate dehydrogenase complex E1 component subunit alpha deficiency
gene_symbol: TANGO2
disease_id: ORPHA:480864
disease_name: Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
TANGO2-related metabolic encephalopathy-arrhythmia syndrome
gene_symbol: TANGO2
disease_id: OMIM:616878
disease_name: METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
gene_symbol: DCX
disease_id: OMIM:300067
disease_name: LISSENCEPHALY, X-LINKED, 1
gene_symbol: TPK1
disease_id: OMIM:614458
disease_name: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)
gene_symbol: USH2A
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: PDZD7
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: MYO7A
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: MYO7A
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: WHRN
disease_id: ORPHA:231178
disease_name: Usher syndrome type 2
USH2
gene_symbol: HIKESHI
disease_id: OMIM:616881
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 13
gene_symbol: GCH1
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: NR4A2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: IMPDH2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: TPRKB
disease_id: OMIM:617731
disease_name: GALLOWAY-MOWAT SYNDROME 5
gene_symbol: APOB
disease_id: OMIM:615558
disease_name: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: TGFB1
disease_id: ORPHA:1328
disease_name: Camurati-Engelmann disease
Progressive diaphyseal dysplasia
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
gene_symbol: SRPK3
disease_id: OMIM:301134
disease_name: OMIM:301134
gene_symbol: PDHB
disease_id: ORPHA:255138
disease_name: Pyruvate dehydrogenase E1-beta deficiency
PDHBD
Pyruvate dehydrogenase complex E1 component subunit beta deficiency
gene_symbol: TRPC3
disease_id: OMIM:616410
disease_name: SPINOCEREBELLAR ATAXIA 41
gene_symbol: HSD17B4
disease_id: OMIM:233400
disease_name: PERRAULT SYNDROME 1
gene_symbol: CLRN1
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: ARSG
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: HARS1
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: CEP78
disease_id: ORPHA:231183
disease_name: Usher syndrome type 3
USH3
gene_symbol: SNAI2
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: KIT
disease_id: ORPHA:2884
disease_name: Piebaldism
gene_symbol: PPT1
disease_id: OMIM:256730
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 1
gene_symbol: CLN5
disease_id: OMIM:256731
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 5
gene_symbol: MMACHC
disease_id: ORPHA:79282
disease_name: Methylmalonic acidemia with homocystinuria, type cblC
CblC defect
Cobalamin C defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC
Methylmalonic aciduria with homocystinuria, type cblC
gene_symbol: CDH23
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: USH1C
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: USH1G
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: ESPN
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: CIB2
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: PCDH15
disease_id: ORPHA:231169
disease_name: Usher syndrome type 1
USH1
gene_symbol: LAMA1
disease_id: ORPHA:370022
disease_name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Poretti-Boltshauser syndrome
gene_symbol: PI4KA
disease_id: OMIM:619708
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2
gene_symbol: KIF1C
disease_id: ORPHA:397946
disease_name: Autosomal spastic paraplegia type 58
Autosomal spastic ataxia type 2
SPAX2
SPG58
gene_symbol: KIF1C
disease_id: OMIM:611302
disease_name: SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE
gene_symbol: PLD3
disease_id: OMIM:617770
disease_name: SPINOCEREBELLAR ATAXIA 46
gene_symbol: MAG
disease_id: OMIM:616680
disease_name: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE
gene_symbol: MAG
disease_id: ORPHA:459056
disease_name: Autosomal recessive spastic paraplegia type 75
SPG75
gene_symbol: ACBD5
disease_id: OMIM:618863
disease_name: RETINAL DYSTROPHY WITH LEUKODYSTROPHY
gene_symbol: RUSC2
disease_id: OMIM:617773
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
gene_symbol: ERMARD
disease_id: ORPHA:75857
disease_name: 6q terminal deletion syndrome
gene_symbol: ADGRG1
disease_id: OMIM:606854
disease_name: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
gene_symbol: ADGRG1
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: PDYN
disease_id: OMIM:610245
disease_name: SPINOCEREBELLAR ATAXIA 23
gene_symbol: PDYN
disease_id: ORPHA:101108
disease_name: Spinocerebellar ataxia type 23
SCA23
gene_symbol: DEGS1
disease_id: OMIM:618404
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 18
gene_symbol: CAV1
disease_id: OMIM:606721
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 7
gene_symbol: LNPK
disease_id: OMIM:618090
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
gene_symbol: IFRD1
disease_id: ORPHA:98771
disease_name: Spinocerebellar ataxia type 18
SCA18
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: TECPR2
disease_id: OMIM:615031
disease_name: SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE
gene_symbol: TECPR2
disease_id: ORPHA:320385
disease_name: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Autosomal recessive spastic paraplegia type 49
HSAN due to TECPR2 mutation
SPG49
gene_symbol: SRPX2
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: SMC5
disease_id: OMIM:620185
disease_name: ATELIS SYNDROME 2
gene_symbol: GPAA1
disease_id: ORPHA:529665
disease_name: Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
GPAA1-related biosynthesis defect
gene_symbol: GPAA1
disease_id: OMIM:617810
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
gene_symbol: PRDM13
disease_id: OMIM:619761
disease_name: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: IVD
disease_id: ORPHA:33
disease_name: Isovaleric acidemia
Isovaleric acid CoA dehydrogenase deficiency
gene_symbol: SLC25A15
disease_id: OMIM:238970
disease_name: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
gene_symbol: PRKCG
disease_id: OMIM:605361
disease_name: SPINOCEREBELLAR ATAXIA 14
gene_symbol: TMEM106B
disease_id: OMIM:617964
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 16
gene_symbol: SLC5A6
disease_id: OMIM:619903
disease_name: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE
gene_symbol: LAGE3
disease_id: OMIM:301006
disease_name: GALLOWAY-MOWAT SYNDROME 2, X-LINKED
gene_symbol: SHMT2
disease_id: OMIM:619121
disease_name: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI SYNDROME
gene_symbol: SFXN4
disease_id: OMIM:615578
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18
gene_symbol: XRCC1
disease_id: OMIM:617633
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26
gene_symbol: BRAT1
disease_id: OMIM:618056
disease_name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
gene_symbol: PNPLA8
disease_id: OMIM:251950
disease_name: MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS
gene_symbol: SUPT16H
disease_id: ORPHA:261229
disease_name: 14q11.2 microduplication syndrome
Dup(14)(q11.2)
Trisomy 14q11.2
gene_symbol: CHD8
disease_id: ORPHA:261229
disease_name: 14q11.2 microduplication syndrome
Dup(14)(q11.2)
Trisomy 14q11.2
gene_symbol: LINGO1
disease_id: OMIM:618103
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 64
gene_symbol: VPS13C
disease_id: OMIM:616840
disease_name: PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET
gene_symbol: TRANK1
disease_id: ORPHA:33543
disease_name: Kleine-Levin syndrome
gene_symbol: ATP6AP2
disease_id: ORPHA:93952
disease_name: X-linked intellectual disability, Hedera type
MRXSH
gene_symbol: ATP6AP2
disease_id: OMIM:300423
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE
gene_symbol: TBC1D2B
disease_id: OMIM:619323
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
gene_symbol: ATXN1
disease_id: ORPHA:98755
disease_name: Spinocerebellar ataxia type 1
SCA1
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: MAB21L1
disease_id: ORPHA:495875
disease_name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
gene_symbol: CTSH
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: P2RY11
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: MOG
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: HCRT
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: ZNF365
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: TNFSF4
disease_id: ORPHA:2073
disease_name: Narcolepsy type 1
Gélineau disease
Hypocretin/orexin deficiency syndrome
Narcolepsy-cataplexy
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: PDE8B
disease_id: OMIM:609161
disease_name: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
gene_symbol: XPR1
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: PDGFRB
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: SLC20A2
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: JAM2
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: EZH2
disease_id: OMIM:277590
disease_name: WEAVER SYNDROME
gene_symbol: SPART
disease_id: ORPHA:101000
disease_name: Autosomal recessive spastic paraplegia type 20
Childhood-onset spastic paraparesis-distal muscle wasting syndrome
SPG20
Troyer syndrome
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: KCNQ2
disease_id: ORPHA:140927
disease_name: Self-limited neonatal-infantile epilepsy
BFNIS
Benign familial neonatal-infantile seizures
Benign neonatal-infantile epilepsy
SeLFNIE
gene_symbol: SETD2
disease_id: OMIM:616831
disease_name: LUSCAN-LUMISH SYNDROME
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: GRIN2A
disease_id: ORPHA:98818
disease_name: Landau-Kleffner syndrome
Acquired epileptic aphasia
LKS
gene_symbol: DPP9
disease_id: OMIM:620331
disease_name: HATIPOGLU IMMUNODEFICIENCY SYNDROME
gene_symbol: CUL4B
disease_id: OMIM:300354
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
gene_symbol: ADSL
disease_id: OMIM:103050
disease_name: ADENYLOSUCCINASE DEFICIENCY
gene_symbol: NFU1
disease_id: OMIM:620938
disease_name: OMIM:620938
gene_symbol: NAA20
disease_id: OMIM:619717
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73
gene_symbol: PMP22
disease_id: OMIM:180800
disease_name: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
gene_symbol: PMP22
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
gene_symbol: PMP22
disease_id: ORPHA:98916
disease_name: Acute inflammatory demyelinating polyradiculoneuropathy
AIDP
Acute idiopathic demyelinating polyneuropathy
Acute inflammatory polyneuropathy
GBS, acute inflammatory demyelinating polyradiculoneuropathic form
Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form
gene_symbol: MPZ
disease_id: OMIM:180800
disease_name: ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA
gene_symbol: MPZ
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: EIF2AK2
disease_id: OMIM:618877
disease_name: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
gene_symbol: NAA80
disease_id: OMIM:620830
disease_name: OMIM:620830
gene_symbol: DCPS
disease_id: OMIM:616459
disease_name: AL-RAQAD SYNDROME
gene_symbol: TTBK2
disease_id: OMIM:604432
disease_name: SPINOCEREBELLAR ATAXIA 11
gene_symbol: ARID1B
disease_id: OMIM:135900
disease_name: COFFIN-SIRIS SYNDROME 1
gene_symbol: CHMP1A
disease_id: OMIM:614961
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 8
gene_symbol: ALDH18A1
disease_id: OMIM:601162
disease_name: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT
gene_symbol: PRDX3
disease_id: OMIM:619862
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 32
gene_symbol: FGF14
disease_id: OMIM:620174
disease_name: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET
gene_symbol: FGF14
disease_id: ORPHA:98764
disease_name: Spinocerebellar ataxia type 27A
SCA27A
gene_symbol: FGF14
disease_id: OMIM:193003
disease_name: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT
gene_symbol: PPP2R1A
disease_id: OMIM:616362
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
gene_symbol: KCNC3
disease_id: ORPHA:98768
disease_name: Spinocerebellar ataxia type 13
SCA13
gene_symbol: KCNC3
disease_id: OMIM:605259
disease_name: SPINOCEREBELLAR ATAXIA 13
gene_symbol: PPP1R15B
disease_id: OMIM:616817
disease_name: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2
gene_symbol: IQSEC1
disease_id: OMIM:618687
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES
gene_symbol: MTPAP
disease_id: OMIM:613672
disease_name: SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: OMIM:300953
disease_name: TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: SMARCA2
disease_id: OMIM:601358
disease_name: NICOLAIDES-BARAITSER SYNDROME
gene_symbol: PRX
disease_id: OMIM:614895
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
gene_symbol: SCYL1
disease_id: OMIM:616719
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
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: RAB11B
disease_id: OMIM:617807
disease_name: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER
gene_symbol: AP1S2
disease_id: OMIM:304340
disease_name: PETTIGREW SYNDROME
gene_symbol: PDP1
disease_id: OMIM:608782
disease_name: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY
gene_symbol: HERC1
disease_id: OMIM:617011
disease_name: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION
gene_symbol: HERC1
disease_id: ORPHA:457359
disease_name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
gene_symbol: FERRY3
disease_id: OMIM:618221
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 66
gene_symbol: KDM5B
disease_id: OMIM:618109
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 65
gene_symbol: CDKL5
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: NTNG1
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: SMC1A
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: GRIA2
disease_id: OMIM:618917
disease_name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
gene_symbol: PRKN
disease_id: OMIM:600116
disease_name: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
gene_symbol: CIITA
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFX5
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFXANK
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: CLCN2
disease_id: OMIM:615651
disease_name: LEUKOENCEPHALOPATHY WITH ATAXIA
gene_symbol: RNU12
disease_id: OMIM:620208
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33
gene_symbol: RNU12
disease_id: ORPHA:512260
disease_name: Congenital cerebellar ataxia due to RNU12 mutation
gene_symbol: GDAP2
disease_id: OMIM:618369
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 27
gene_symbol: AQP4
disease_id: OMIM:620448
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 4, REMITTING
gene_symbol: THG1L
disease_id: OMIM:618800
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28
gene_symbol: TTI1
disease_id: OMIM:620445
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
gene_symbol: DNAJC3
disease_id: OMIM:616192
disease_name: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS
gene_symbol: DNAJC3
disease_id: ORPHA:445062
disease_name: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome
Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
gene_symbol: LARS2
disease_id: OMIM:615300
disease_name: PERRAULT SYNDROME 4
gene_symbol: ERBB3
disease_id: OMIM:243180
disease_name: VISCERAL NEUROPATHY, FAMILIAL, AUTOSOMAL RECESSIVE
gene_symbol: RNF170
disease_id: OMIM:608984
disease_name: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT
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: PAK1
disease_id: OMIM:618158
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY
gene_symbol: TRAPPC6B
disease_id: OMIM:617862
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
gene_symbol: DEAF1
disease_id: ORPHA:468620
disease_name: Intellectual disability-epilepsy-extrapyramidal syndrome
gene_symbol: NSUN2
disease_id: OMIM:611091
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5
gene_symbol: LMNB2
disease_id: OMIM:616540
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 9
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: VPS51
disease_id: OMIM:618606
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 13
gene_symbol: TMEM163
disease_id: OMIM:620243
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 25
gene_symbol: DOCK3
disease_id: OMIM:618292
disease_name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA
gene_symbol: PPP1R21
disease_id: OMIM:619383
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
gene_symbol: EIF2S3
disease_id: OMIM:300148
disease_name: MEHMO SYNDROME
gene_symbol: HPDL
disease_id: OMIM:619027
disease_name: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE
gene_symbol: FAT2
disease_id: OMIM:617769
disease_name: SPINOCEREBELLAR ATAXIA 45
gene_symbol: WASHC5
disease_id: ORPHA:100989
disease_name: Autosomal dominant spastic paraplegia type 8
SPG8
gene_symbol: CYP7B1
disease_id: ORPHA:100986
disease_name: Autosomal recessive spastic paraplegia type 5A
SPG5A
gene_symbol: GPRC5B
disease_id: OMIM:620447
disease_name: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3
gene_symbol: CERS1
disease_id: OMIM:616230
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 8
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: UBAP1
disease_id: OMIM:618418
disease_name: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT
gene_symbol: UBAP1
disease_id: ORPHA:100993
disease_name: Autosomal dominant spastic paraplegia type 12
SPG12
gene_symbol: BCL11A
disease_id: OMIM:617101
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
gene_symbol: RTN2
disease_id: ORPHA:100993
disease_name: Autosomal dominant spastic paraplegia type 12
SPG12
gene_symbol: CLCN4
disease_id: OMIM:300114
disease_name: RAYNAUD-CLAES SYNDROME
gene_symbol: CLCN4
disease_id: ORPHA:485350
disease_name: CLCN4-related X-linked intellectual disability syndrome
Raynaud-Claes syndrome
gene_symbol: SLC44A1
disease_id: OMIM:618868
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE
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: 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: MT-TE
disease_id: ORPHA:2596
disease_name: Myopathy and diabetes mellitus
gene_symbol: ZFHX3
disease_id: OMIM:600223
disease_name: SPINOCEREBELLAR ATAXIA 4
gene_symbol: GLS
disease_id: OMIM:618412
disease_name: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE
gene_symbol: SLC30A10
disease_id: ORPHA:309854
disease_name: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
gene_symbol: GGT1
disease_id: OMIM:231950
disease_name: GLUTATHIONURIA
gene_symbol: COG5
disease_id: ORPHA:263487
disease_name: COG5-CDG
CDG syndrome type IIi
CDG-IIi
CDG2I
Carbohydrate deficient glycoprotein syndrome type IIi
Congenital disorder of glycosylation type 2i
Congenital disorder of glycosylation type IIi
gene_symbol: COG5
disease_id: OMIM:613612
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi
gene_symbol: NDUFA13
disease_id: OMIM:618249
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 28
gene_symbol: NAT8L
disease_id: OMIM:614063
disease_name: N-ACETYLASPARTATE DEFICIENCY
gene_symbol: DOHH
disease_id: OMIM:620066
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT
gene_symbol: MAST1
disease_id: OMIM:618273
disease_name: MEGA-CORPUS-CALLOSUM SYNDROME WITH CEREBELLAR HYPOPLASIA AND CORTICAL MALFORMATIONS
gene_symbol: NFIX
disease_id: ORPHA:420179
disease_name: Malan overgrowth syndrome
Sotos syndrome 2
gene_symbol: PIGQ
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SLC32A1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GNAO1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRIN1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SLC25A22
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SIK1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: CASK
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRM7
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: ARX
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: NEUROD2
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: AASS
disease_id: ORPHA:2203
disease_name: Hyperlysinemia
Hyperlysinemia type I
Lysine alpha-ketoglutarate reductase deficiency
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: BMPR1B
disease_id: OMIM:616849
disease_name: BRACHYDACTYLY, TYPE A1, D
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: EEF2
disease_id: OMIM:609306
disease_name: SPINOCEREBELLAR ATAXIA 26
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: SET
disease_id: OMIM:618106
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
gene_symbol: GABRA1
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: POGZ
disease_id: ORPHA:468678
disease_name: White-Sutton syndrome
Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
gene_symbol: ATXN10
disease_id: OMIM:603516
disease_name: SPINOCEREBELLAR ATAXIA 10
gene_symbol: CHAMP1
disease_id: OMIM:616579
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40
gene_symbol: LMBRD1
disease_id: OMIM:277380
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: TPR
disease_id: OMIM:620393
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79
gene_symbol: SPG21
disease_id: OMIM:248900
disease_name: MAST SYNDROME
gene_symbol: ABCA2
disease_id: OMIM:618808
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
gene_symbol: RDH11
disease_id: ORPHA:436245
disease_name: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Retinal dystrophy-juvenile cataract-short stature syndrome
gene_symbol: SLC22A5
disease_id: ORPHA:158
disease_name: Systemic primary carnitine deficiency
CDSP
CUD
Carnitine transporter defect
Carnitine uptake deficiency
Deficiency of plasma-membrane carnitine transporter
SPCD
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
gene_symbol: CAPN3
disease_id: OMIM:253600
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1
gene_symbol: AFF2
disease_id: ORPHA:100973
disease_name: FRAXE intellectual disability
Intellectual disability associated with fragile site FRAXE
gene_symbol: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
gene_symbol: ALG13
disease_id: ORPHA:324422
disease_name: ALG13-CDG
CDG syndrome type Is
CDG-Is
CDG1S
Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type Is
gene_symbol: TTN
disease_id: ORPHA:609
disease_name: Tibial muscular dystrophy
Distal myopathy, Udd type
Distal titinopathy
Finnish tibial muscular dystrophy
TMD
Udd myopathy
gene_symbol: FRRS1L
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: TIA1
disease_id: ORPHA:603
disease_name: Distal myopathy, Welander type
WDM
gene_symbol: HNRNPA1
disease_id: OMIM:610099
disease_name: MYOPATHY, DISTAL, 3
gene_symbol: HNRNPA1
disease_id: ORPHA:399086
disease_name: Finnish upper limb-onset distal myopathy
Distal myopathy type 3
MPD3
gene_symbol: BSND
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKB
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: CLCNKA
disease_id: ORPHA:89938
disease_name: Bartter syndrome type 4
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
gene_symbol: PAK3
disease_id: OMIM:300558
disease_name: MENTAL RETARDATION, X-LINKED 30
gene_symbol: CAV3
disease_id: ORPHA:488650
disease_name: Distal myopathy, Tateyama type
gene_symbol: CLCN1
disease_id: ORPHA:614
disease_name: Thomsen and Becker disease
Myotonia congenita
gene_symbol: ASAH1
disease_id: ORPHA:2590
disease_name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome
SMA-PME
gene_symbol: ACOX1
disease_id: OMIM:618960
disease_name: MITCHELL SYNDROME
gene_symbol: RNF125
disease_id: OMIM:616260
disease_name: TENORIO SYNDROME
gene_symbol: HAX1
disease_id: OMIM:610738
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE
gene_symbol: NSD1
disease_id: OMIM:117550
disease_name: SOTOS SYNDROME 1
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: EED
disease_id: OMIM:617561
disease_name: COHEN-GIBSON SYNDROME
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: TXN2
disease_id: ORPHA:478029
disease_name: Combined oxidative phosphorylation defect type 29
COXPD29
gene_symbol: SIM1
disease_id: ORPHA:171829
disease_name: 6q16 microdeletion syndrome
Del(6)(q16)
Monosomy 6q16
Prader-Willi-like syndrome due to microdeletion 6q16
gene_symbol: MTR
disease_id: OMIM:250940
disease_name: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE
gene_symbol: HUWE1
disease_id: OMIM:309590
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE
gene_symbol: HSD17B10
disease_id: ORPHA:391428
disease_name: HSD10 disease, infantile type
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 disease, classic type
MHBD deficiency, classic type
MHBD deficiency, infantile type
gene_symbol: LRP4
disease_id: OMIM:614305
disease_name: SCLEROSTEOSIS 2
gene_symbol: MMADHC
disease_id: OMIM:277410
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE
gene_symbol: TANC2
disease_id: OMIM:618906
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES
gene_symbol: SLC2A3
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: RTL1
disease_id: ORPHA:254531
disease_name: Temple syndrome due to paternal 14q32.2 hypomethylation
gene_symbol: RTL1
disease_id: ORPHA:96184
disease_name: Temple syndrome due to maternal uniparental disomy of chromosome 14
UPD(14)mat
gene_symbol: RTL1
disease_id: ORPHA:254525
disease_name: Temple syndrome due to paternal 14q32.2 microdeletion
Paternal del(14)(q32.2)
gene_symbol: DLK1
disease_id: ORPHA:254531
disease_name: Temple syndrome due to paternal 14q32.2 hypomethylation
gene_symbol: DLK1
disease_id: ORPHA:96184
disease_name: Temple syndrome due to maternal uniparental disomy of chromosome 14
UPD(14)mat
gene_symbol: DLK1
disease_id: ORPHA:254525
disease_name: Temple syndrome due to paternal 14q32.2 microdeletion
Paternal del(14)(q32.2)
gene_symbol: MEG3
disease_id: ORPHA:254531
disease_name: Temple syndrome due to paternal 14q32.2 hypomethylation
gene_symbol: MEG3
disease_id: ORPHA:96184
disease_name: Temple syndrome due to maternal uniparental disomy of chromosome 14
UPD(14)mat
gene_symbol: MEG3
disease_id: ORPHA:254525
disease_name: Temple syndrome due to paternal 14q32.2 microdeletion
Paternal del(14)(q32.2)
gene_symbol: RAD51
disease_id: ORPHA:238722
disease_name: Familial congenital mirror movements
Familial congenital controlateral synkinesia
Hereditary congenital controlateral synkinesia
Hereditary congenital mirror movements
Isolated congenital controlateral synkinesia
Isolated congenital mirror movements
gene_symbol: DNAL4
disease_id: ORPHA:238722
disease_name: Familial congenital mirror movements
Familial congenital controlateral synkinesia
Hereditary congenital controlateral synkinesia
Hereditary congenital mirror movements
Isolated congenital controlateral synkinesia
Isolated congenital mirror movements
gene_symbol: NTN1
disease_id: ORPHA:238722
disease_name: Familial congenital mirror movements
Familial congenital controlateral synkinesia
Hereditary congenital controlateral synkinesia
Hereditary congenital mirror movements
Isolated congenital controlateral synkinesia
Isolated congenital mirror movements
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: SNORD116-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: HERC2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: NPAP1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: SNORD115-1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MAGEL2
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: MKRN3
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWAR1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: IPW
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: PWRN1
disease_id: OMIM:176270
disease_name: PRADER-WILLI SYNDROME
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: GNB5
disease_id: OMIM:617182
disease_name: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
gene_symbol: GNB5
disease_id: ORPHA:542306
disease_name: GNB5-related intellectual disability-cardiac arrhythmia syndrome
gene_symbol: PIEZO2
disease_id: OMIM:617146
disease_name: ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
gene_symbol: RAI1
disease_id: ORPHA:1713
disease_name: 17p11.2 microduplication syndrome
Potocki-Lupski syndrome
Trisomy 17p11.2
gene_symbol: GNE
disease_id: OMIM:269921
disease_name: SIALURIA
gene_symbol: FOXP2
disease_id: ORPHA:209908
disease_name: Isolated childhood apraxia of speech
Isolated CAS
Isolated developmental verbal dyspraxia
Pure CAS
Pure childhood apraxia of speech
Speech and language disorder with orofacial dyspraxia
Speech-language disorder type 1
gene_symbol: MYPN
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: ACTA1
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KBTBD13
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: TPM3
disease_id: ORPHA:171439
disease_name: Childhood-onset nemaline myopathy
Mild nemaline myopathy
gene_symbol: SBF2
disease_id: ORPHA:99956
disease_name: Charcot-Marie-Tooth disease type 4B2
CMT4B2
gene_symbol: ATP9A
disease_id: OMIM:620242
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES
gene_symbol: DMPK
disease_id: ORPHA:589821
disease_name: Congenital-onset Steinert myotonic dystrophy
Congenital-onset Steinert disease
Congenital-onset myotonic dystrophy type 1
gene_symbol: CUX1
disease_id: OMIM:618330
disease_name: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
gene_symbol: GDAP1
disease_id: ORPHA:99948
disease_name: Charcot-Marie-Tooth disease type 4A
CMT4A
gene_symbol: MFN2
disease_id: ORPHA:99947
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2A2
CMT2A2
gene_symbol: FKRP
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT2
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: LARGE1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
gene_symbol: POMT1
disease_id: ORPHA:370968
disease_name: Congenital muscular dystrophy with intellectual disability
CMD with intellectual disability
CMD-MR
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
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: MYT1L
disease_id: ORPHA:647799
disease_name: MYT1L-related developmental delay-intellectual disability-obesity syndrome
MYT1L-associated neurodevelopmental disorder
gene_symbol: KCNA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DNM1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: AP3B2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP6V1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC38A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FZR1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNC2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: EEF1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FBXO28
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRB2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SYNGAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GRIN2D
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NUS1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CLTC
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: WWOX
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SZT2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: HCN1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NECAP1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PACS2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: AARS1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN8A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABBR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRA2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DALRD3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CYFIP2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: NTRK2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PARS2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CDK19
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FGF12
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: PPP3CA
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP1A3
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: TRAK1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: GABRG2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: YWHAG
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: UBA5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN3A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA2D1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CELF2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ACTL6B
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: FOXG1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SYNJ1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: ATP1A2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: KCNB1
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC13A5
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CNKSR2
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: CACNA1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SCN1A
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: DHDDS
disease_id: ORPHA:442835
disease_name: Non-specific early-onset epileptic encephalopathy
Non-specific EOEE
Undetermined EOEE
Undetermined early-onset epileptic encephalopathy
gene_symbol: SLC18A2
disease_id: ORPHA:352649
disease_name: Brain dopamine-serotonin vesicular transport disease
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: NF1
disease_id: ORPHA:363700
disease_name: Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Von Recklinghausen disease due to NF1 mutation or intragenic deletion
gene_symbol: APOE
disease_id: OMIM:607822
disease_name: ALZHEIMER DISEASE 3