TaoMedAI/RareMedData huggingface dataset:
Phenotype: Cutaneous wound (HP:0032674)
Associated genes and diseases:
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:89842
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Generalized RDEB, intermediate form
RDEB, non-Hallopeau-Siemens type
Phenotype: Chronic cutaneous wound (HP:0032676)
Associated genes and diseases:
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:89842
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Autosomal recessive dystrophic epidermolysis bullosa generalisata mitis
Autosomal recessive dystrophic epidermolysis bullosa, non-Hallopeau-Siemens type
Generalized RDEB, intermediate form
RDEB, non-Hallopeau-Siemens type
Phenotype: Eyelid myoclonia seizure (HP:0032678)
Associated genes and diseases:
gene_symbol: AP2M1
disease_id: OMIM:618587
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES
gene_symbol: DHFR
disease_id: OMIM:613839
disease_name: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
gene_symbol: SCN8A
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: SCN2A
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: PRRT2
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: KCNQ2
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
gene_symbol: KCNQ3
disease_id: ORPHA:306
disease_name: Self-limited infantile epilepsy
BFIE
BFIS
Benign familial infantile convulsions
Benign familial infantile epilepsy
Benign familial infantile seizures
SeLIE
Phenotype: Focal cognitive seizure (HP:0032680)
Associated genes and diseases:
gene_symbol: LGI1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: RELN
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: MICAL1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: GAL
disease_id: OMIM:616461
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
gene_symbol: NPRL3
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: NPRL2
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: DEPDC5
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
Phenotype: Focal aware cognitive seizure (HP:0032681)
Associated genes and diseases:
gene_symbol: GAL
disease_id: OMIM:616461
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
Phenotype: Focal aware non-motor seizure (HP:0032682)
Associated genes and diseases:
gene_symbol: GAL
disease_id: OMIM:616461
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
gene_symbol: LGI1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: RELN
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
gene_symbol: MICAL1
disease_id: OMIM:600512
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 1
Phenotype: Focal cognitive seizure with forced thinking (HP:0032692)
Associated genes and diseases:
gene_symbol: GAL
disease_id: OMIM:616461
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8
Phenotype: Progressive ventriculomegaly (HP:0007100)
Associated genes and diseases:
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
Phenotype: Prolonged somatosensory evoked potentials (HP:0007104)
Associated genes and diseases:
gene_symbol: TBC1D24
disease_id: OMIM:608105
disease_name: EPILEPSY, ROLANDIC, WITH PAROXYSMAL EXERCISE-INDUCED DYSTONIA AND WRITER'S CRAMP
gene_symbol: TBC1D24
disease_id: ORPHA:163727
disease_name: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rolandic epilepsy exercise-induced dystonia
Phenotype: Segmental peripheral demyelination (HP:0007107)
Associated genes and diseases:
gene_symbol: SH3TC2
disease_id: OMIM:601596
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
gene_symbol: GDAP1
disease_id: OMIM:214400
disease_name: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A
gene_symbol: DNM2
disease_id: OMIM:606482
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B
gene_symbol: GBF1
disease_id: OMIM:606483
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE A
Phenotype: Periventricular cysts (HP:0007109)
Associated genes and diseases:
gene_symbol: ODC1
disease_id: OMIM:619075
disease_name: BACHMANN-BUPP SYNDROME
gene_symbol: ODC1
disease_id: ORPHA:544488
disease_name: Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Bachmann-Bupp syndrome
Ornithine decarboxylase deficiency
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: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: GFAP
disease_id: ORPHA:363722
disease_name: Alexander disease type II
AxD type II
gene_symbol: UQCC3
disease_id: OMIM:616111
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9
gene_symbol: FARSA
disease_id: OMIM:619013
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2
gene_symbol: LIPT2
disease_id: OMIM:617668
disease_name: ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES
gene_symbol: PLAA
disease_id: OMIM:617527
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: OCRL
disease_id: OMIM:309000
disease_name: LOWE OCULOCEREBRORENAL SYNDROME
gene_symbol: PDHX
disease_id: ORPHA:255182
disease_name: Pyruvate dehydrogenase E3-binding protein deficiency
2-oxoglutarate complex deficiency
Branched chain alpha-ketoacid dehydrogenase complex deficiency
Diaphorase deficiency
Dihydrolipoyl dehydrogenase deficiency
Glycine cleavage system L protein deficiency
Lipoamide dehydrogenase deficiency
Pyruvate dehydrogenase complex component E3 deficiency
Pyruvate dehydrogenase protein X component deficiency
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
Phenotype: Central hypoventilation (HP:0007110)
Associated genes and diseases:
gene_symbol: DCTN1
disease_id: ORPHA:178509
disease_name: Perry syndrome
Parkinsonism with alveolar hypoventilation and mental depression
gene_symbol: DCTN1
disease_id: OMIM:168605
disease_name: PERRY SYNDROME
gene_symbol: MECP2
disease_id: OMIM:300673
disease_name: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
gene_symbol: NDUFAF2
disease_id: OMIM:618233
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10
gene_symbol: HOXA1
disease_id: OMIM:601536
disease_name: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
gene_symbol: LBX1
disease_id: OMIM:619483
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3
gene_symbol: MYPN
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: TPM2
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: TPM3
disease_id: ORPHA:171881
disease_name: Cap myopathy
Cap disease
gene_symbol: PHOX2B
disease_id: OMIM:209880
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
gene_symbol: PHOX2B
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: RET
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: ASCL1
disease_id: ORPHA:99803
disease_name: Haddad syndrome
Congenital central alveolar hypoventilation-Hirschsprung disease syndrome
Ondine-Hirschsprung disease
Ondine-Hirschsprung syndrome
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
Phenotype: Corticospinal tract atrophy (HP:0007117)
Associated genes and diseases:
gene_symbol: MT-ATP6
disease_id: ORPHA:644
disease_name: NARP syndrome
Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
Neuropathy-ataxia-retinitis pigmentosa syndrome
gene_symbol: MT-ATP6
disease_id: OMIM:551500
disease_name: NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA
Phenotype: Subcortical dementia (HP:0007123)
Associated genes and diseases:
gene_symbol: JPH3
disease_id: OMIM:606438
disease_name: HUNTINGTON DISEASE-LIKE 2
gene_symbol: FTL
disease_id: OMIM:606159
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
gene_symbol: FTL
disease_id: ORPHA:157846
disease_name: Neuroferritinopathy
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
gene_symbol: NOTCH3
disease_id: OMIM:125310
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
Phenotype: Cerebellar medulloblastoma (HP:0007129)
Associated genes and diseases:
gene_symbol: KEAP1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: DICER1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
Phenotype: Developmental stagnation (HP:0007281)
Associated genes and diseases:
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: ST3GAL5
disease_id: OMIM:609056
disease_name: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME
gene_symbol: NUP62
disease_id: OMIM:271930
disease_name: STRIATONIGRAL DEGENERATION, INFANTILE
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: GABBR2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: GABBR2
disease_id: OMIM:617903
disease_name: NEURODEVELOPMENTAL DISORDER WITH POOR LANGUAGE AND LOSS OF HAND SKILLS
gene_symbol: MECP2
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: ACAN
disease_id: ORPHA:435804
disease_name: Short stature-advanced bone age-early-onset osteoarthritis syndrome
gene_symbol: SCN1B
disease_id: OMIM:617350
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52
gene_symbol: ZNHIT3
disease_id: OMIM:260565
disease_name: PEHO SYNDROME
gene_symbol: ACER3
disease_id: OMIM:617762
disease_name: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET
gene_symbol: PTPN23
disease_id: OMIM:618890
disease_name: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
gene_symbol: VPS11
disease_id: OMIM:616683
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 12
gene_symbol: RARS1
disease_id: ORPHA:438114
disease_name: RARS-related autosomal recessive hypomyelinating leukodystrophy
gene_symbol: GLB1
disease_id: OMIM:230600
disease_name: GM1-GANGLIOSIDOSIS, TYPE II
gene_symbol: POLR2A
disease_id: OMIM:618603
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
gene_symbol: PHGDH
disease_id: ORPHA:79351
disease_name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
PHGDH deficiency, infantile/juvenile form
gene_symbol: MCOLN1
disease_id: ORPHA:578
disease_name: Mucolipidosis type IV
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
gene_symbol: RNH1
disease_id: OMIM:620461
disease_name: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12
Phenotype: Acute demyelinating polyneuropathy (HP:0007131)
Associated genes and diseases:
gene_symbol: PMP22
disease_id: OMIM:139393
disease_name: GUILLAIN-BARRE SYNDROME, FAMILIAL
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: PMP22
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
gene_symbol: PMP22
disease_id: ORPHA:101081
disease_name: Charcot-Marie-Tooth disease type 1A
CMT1A
Microduplication 17p12
gene_symbol: MPZ
disease_id: ORPHA:3115
disease_name: Roussy-Lévy syndrome
Hereditary areflexic dystasia, Roussy-Lévy type
Phenotype: Pallidal degeneration (HP:0007132)
Associated genes and diseases:
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
Phenotype: Progressive peripheral neuropathy (HP:0007133)
Associated genes and diseases:
gene_symbol: ARSA
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: ARSA
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: ARSA
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: ARSA
disease_id: OMIM:250100
disease_name: METACHROMATIC LEUKODYSTROPHY
gene_symbol: PSAP
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: PSAP
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: PSAP
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: COA8
disease_id: ORPHA:436271
disease_name: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: ABCA1
disease_id: ORPHA:31150
disease_name: Tangier disease
ATP-binding cassette transporter A1 deficiency
Analphalipoproteinemia
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated genes and diseases:
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: ADGRG1
disease_id: OMIM:606854
disease_name: POLYMICROGYRIA, BILATERAL FRONTOPARIETAL
gene_symbol: ADGRG1
disease_id: ORPHA:101070
disease_name: Bilateral frontoparietal polymicrogyria
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
gene_symbol: PHGDH
disease_id: OMIM:601815
disease_name: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY
gene_symbol: ABAT
disease_id: ORPHA:2066
disease_name: Gamma-aminobutyric acid transaminase deficiency
GABA transaminase deficiency
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: PSAP
disease_id: OMIM:611722
disease_name: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: SOX10
disease_id: OMIM:609136
disease_name: PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE
gene_symbol: MCOLN1
disease_id: OMIM:252650
disease_name: MUCOLIPIDOSIS IV
Phenotype: Bilateral basal ganglia lesions (HP:0007146)
Associated genes and diseases:
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: DNAJC19
disease_id: ORPHA:66634
disease_name: Dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
gene_symbol: COX15
disease_id: OMIM:615119
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 6
gene_symbol: PDGFB
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
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: MYORG
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: NAA60
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
gene_symbol: CMPK2
disease_id: ORPHA:1980
disease_name: Bilateral striopallidodentate calcinosis
BSPDC
Cerebrovascular ferrocalcinosis
Idiopathic basal ganglia calcification
PFBC
Primary familial brain calcification
Phenotype: Progressive extrapyramidal movement disorder (HP:0007153)
Associated genes and diseases:
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: MICU1
disease_id: ORPHA:401768
disease_name: Proximal myopathy with extrapyramidal signs
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: ATP13A2
disease_id: ORPHA:513436
disease_name: Autosomal recessive spastic paraplegia type 78
SPG78
gene_symbol: PLA2G6
disease_id: ORPHA:199351
disease_name: Adult-onset dystonia-parkinsonism
Dystonia-parkinsonism, Paisan-Ruiz type
PARK14
PLA2G6-related dystonia-parkinsonism
gene_symbol: FA2H
disease_id: ORPHA:329308
disease_name: Fatty acid hydroxylase-associated neurodegeneration
FAHN
gene_symbol: CLPB
disease_id: ORPHA:445038
disease_name: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
3-methylglutaconic aciduria type 7
MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
MGA7
gene_symbol: RARS1
disease_id: ORPHA:438114
disease_name: RARS-related autosomal recessive hypomyelinating leukodystrophy
Phenotype: Progressive extrapyramidal muscular rigidity (HP:0007158)
Associated genes and diseases:
gene_symbol: PRNP
disease_id: ORPHA:282166
disease_name: Inherited Creutzfeldt-Jakob disease
Inherited CJD
gene_symbol: MICU1
disease_id: ORPHA:401768
disease_name: Proximal myopathy with extrapyramidal signs
gene_symbol: MAPT
disease_id: ORPHA:240112
disease_name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
PSP-AOS
PSP-PNFA
Progressive supranuclear palsy-apraxia of speech syndrome
gene_symbol: MAPT
disease_id: ORPHA:240103
disease_name: Progressive supranuclear palsy-corticobasal syndrome
PSP-CBS
PSP-corticobasal syndrome
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: TAF1
disease_id: ORPHA:53351
disease_name: X-linked dystonia-parkinsonism
DYT3
Lubag
Lubag syndrome
XDP