TaoMedAI/RareMedData huggingface dataset:
Phenotype: Eruption failure (HP:0000706)
Associated genes and diseases:
gene_symbol: PTH1R
disease_id: OMIM:600002
disease_name: EIKEN SYNDROME
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
gene_symbol: ANTXR1
disease_id: OMIM:230740
disease_name: GAPO SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: LEMD2
disease_id: OMIM:619322
disease_name: MARBACH-RUSTAD PROGEROID SYNDROME
gene_symbol: TRIO
disease_id: ORPHA:476126
disease_name: Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: SH3BP2
disease_id: OMIM:118400
disease_name: CHERUBISM
gene_symbol: HOXD13
disease_id: OMIM:113300
disease_name: BRACHYDACTYLY, TYPE E1
gene_symbol: SMCHD1
disease_id: ORPHA:2250
disease_name: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Bosma arhinia-microphthalmia syndrome
Bosma-Henkin-Christiansen syndrome
gene_symbol: FLNB
disease_id: OMIM:272460
disease_name: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
gene_symbol: MAP3K7
disease_id: ORPHA:3238
disease_name: Cardiospondylocarpofacial syndrome
Forney syndrome
Forney-Robinson-Pascoe syndrome
Mitral regurgitation-deafness-skeletal anomalies syndrome
Mitral regurgitation-hearing loss-skeletal anomalies syndrome
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
Phenotype: Vertical nystagmus (HP:0010544)
Associated genes and diseases:
gene_symbol: PIGN
disease_id: ORPHA:280633
disease_name: Multiple congenital anomalies-hypotonia-seizures syndrome
Congenital disorder of glycosylation due to PIGN deficiency
PIGN-CDG
gene_symbol: NDUFS8
disease_id: OMIM:618222
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: ECHS1
disease_id: OMIM:616277
disease_name: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
gene_symbol: PET100
disease_id: OMIM:619055
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: ALX4
disease_id: OMIM:613451
disease_name: FRONTONASAL DYSPLASIA 2
gene_symbol: TMEM106B
disease_id: OMIM:617964
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 16
gene_symbol: MRE11
disease_id: ORPHA:251347
disease_name: Ataxia-telangiectasia-like disorder
ATLD
gene_symbol: U2AF2
disease_id: OMIM:620535
disease_name: DEVELOPMENTAL DELAY, DYSMORPHIC FACIES, AND BRAIN ANOMALIES
gene_symbol: PIGQ
disease_id: OMIM:618548
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4
gene_symbol: TTBK2
disease_id: ORPHA:98767
disease_name: Spinocerebellar ataxia type 11
SCA11
gene_symbol: CACNA1A
disease_id: ORPHA:98758
disease_name: Spinocerebellar ataxia type 6
SCA6
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: PEX5
disease_id: OMIM:616716
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: SCN1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: ANO10
disease_id: OMIM:613728
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
gene_symbol: FAT2
disease_id: OMIM:617769
disease_name: SPINOCEREBELLAR ATAXIA 45
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: FGF14
disease_id: OMIM:620174
disease_name: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET
gene_symbol: AHDC1
disease_id: ORPHA:412069
disease_name: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Xia-Gibbs syndrome
Phenotype: Opsoclonus (HP:0010543)
Associated genes and diseases:
gene_symbol: FRMD5
disease_id: OMIM:620094
disease_name: NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA
gene_symbol: KIF1B
disease_id: OMIM:256700
disease_name: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
gene_symbol: TMEM240
disease_id: OMIM:607454
disease_name: SPINOCEREBELLAR ATAXIA 21
gene_symbol: GBA1
disease_id: ORPHA:2072
disease_name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Cardiovascular Gaucher disease
Gaucher disease type 3C
Gaucher-like disease
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: HACE1
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: PHOX2B
disease_id: ORPHA:635
disease_name: Neuroblastoma
gene_symbol: TCIRG1
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: CLCN7
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: SNX10
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
gene_symbol: TNFSF11
disease_id: ORPHA:667
disease_name: Autosomal recessive malignant osteopetrosis
Infantile malignant osteopetrosis
Phenotype: Vestibular nystagmus (HP:0010542)
Associated genes and diseases:
gene_symbol: PRNP
disease_id: ORPHA:282166
disease_name: Inherited Creutzfeldt-Jakob disease
Inherited CJD
Phenotype: Cutis gyrata of scalp (HP:0010541)
Associated genes and diseases:
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: SLCO2A1
disease_id: OMIM:167100
disease_name: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT
gene_symbol: SLCO2A1
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
gene_symbol: NDE1
disease_id: OMIM:605013
disease_name: MICROHYDRANENCEPHALY
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: HPGD
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
Phenotype: Percussion myotonia (HP:0010548)
Associated genes and diseases:
gene_symbol: CAV3
disease_id: OMIM:606072
disease_name: RIPPLING MUSCLE DISEASE 2
gene_symbol: CAVIN1
disease_id: OMIM:613327
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
gene_symbol: HINT1
disease_id: ORPHA:324442
disease_name: Autosomal recessive axonal neuropathy with neuromyotonia
ARAN-NM
ARCMT2-NM
Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
gene_symbol: SCN4A
disease_id: ORPHA:684
disease_name: Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
gene_symbol: SCN4A
disease_id: OMIM:168300
disease_name: PARAMYOTONIA CONGENITA OF VON EULENBURG
gene_symbol: SCN4A
disease_id: OMIM:608390
disease_name: MYOTONIA, POTASSIUM-AGGRAVATED
gene_symbol: ATP2A1
disease_id: OMIM:601003
disease_name: BRODY MYOPATHY
gene_symbol: SVIL
disease_id: OMIM:619040
disease_name: MYOFIBRILLAR MYOPATHY 10
gene_symbol: DNAJB6
disease_id: ORPHA:34516
disease_name: DNAJB6-related limb-girdle muscular dystrophy D1
Autosomal dominant limb-girdle muscular dystrophy type 1D
DNAJB6-related LGMD D1
LGMD type 1D
LGMD1D
Limb-girdle muscular dystrophy type 1D
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: CLCN1
disease_id: OMIM:160800
disease_name: MYOTONIA CONGENITA, AUTOSOMAL DOMINANT
gene_symbol: CLCN1
disease_id: OMIM:255700
disease_name: MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE
gene_symbol: COX11
disease_id: OMIM:620275
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 23
Phenotype: Downbeat nystagmus (HP:0010545)
Associated genes and diseases:
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: ANO10
disease_id: ORPHA:284289
disease_name: Adult-onset autosomal recessive cerebellar ataxia
Autosomal recessive spinocerebellar ataxia type 10
SCAR10
gene_symbol: ANO10
disease_id: OMIM:613728
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10
gene_symbol: FAT2
disease_id: OMIM:617769
disease_name: SPINOCEREBELLAR ATAXIA 45
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: CACNA1A
disease_id: OMIM:108500
disease_name: EPISODIC ATAXIA, TYPE 2
gene_symbol: FGF14
disease_id: OMIM:620174
disease_name: SPINOCEREBELLAR ATAXIA 27B, LATE-ONSET
Phenotype: Mesangial matrix expansion (HP:0033493)
Associated genes and diseases:
gene_symbol: CFHR5
disease_id: OMIM:614809
disease_name: C3 GLOMERULOPATHY 3
Phenotype: Hyperorality (HP:0000710)
Associated genes and diseases:
gene_symbol: PSEN1
disease_id: OMIM:600274
disease_name: FRONTOTEMPORAL DEMENTIA
gene_symbol: PSEN1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: PSEN1
disease_id: OMIM:172700
disease_name: PICK DISEASE OF BRAIN
gene_symbol: MAPT
disease_id: OMIM:600274
disease_name: FRONTOTEMPORAL DEMENTIA
gene_symbol: MAPT
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: MAPT
disease_id: OMIM:172700
disease_name: PICK DISEASE OF BRAIN
gene_symbol: CHMP2B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: CHMP2B
disease_id: OMIM:600795
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7
gene_symbol: GRN
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: GRN
disease_id: OMIM:607485
disease_name: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED
gene_symbol: TMEM106B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: SQSTM1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TREM2
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: VCP
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: PRNP
disease_id: OMIM:606688
disease_name: SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
gene_symbol: SNRPN
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: UBE3A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: ATP10A
disease_id: ORPHA:411515
disease_name: Angelman syndrome due to imprinting defect in 15q11-q13
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: CRLS1
disease_id: OMIM:620167
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 57
gene_symbol: DCTN1
disease_id: OMIM:168605
disease_name: PERRY SYNDROME
Phenotype: Auditory hallucination (HP:0008765)
Associated genes and diseases:
gene_symbol: FIG4
disease_id: ORPHA:208441
disease_name: Bilateral parasagittal parieto-occipital polymicrogyria
gene_symbol: CSF1R
disease_id: OMIM:221820
disease_name: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS
gene_symbol: RELN
disease_id: ORPHA:101046
disease_name: Autosomal dominant epilepsy with auditory features
ADEAF
ADLTE
ADPEAF
Autosomal dominant lateral temporal lobe epilepsy
Partial epilepsy with auditory aura
Partial epilepsy with auditory features
gene_symbol: LGI1
disease_id: ORPHA:101046
disease_name: Autosomal dominant epilepsy with auditory features
ADEAF
ADLTE
ADPEAF
Autosomal dominant lateral temporal lobe epilepsy
Partial epilepsy with auditory aura
Partial epilepsy with auditory features
gene_symbol: DEPDC5
disease_id: ORPHA:101046
disease_name: Autosomal dominant epilepsy with auditory features
ADEAF
ADLTE
ADPEAF
Autosomal dominant lateral temporal lobe epilepsy
Partial epilepsy with auditory aura
Partial epilepsy with auditory features
gene_symbol: DEPDC5
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: DNAJC5
disease_id: OMIM:162350
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT
gene_symbol: PDGFRB
disease_id: OMIM:616592
disease_name: KOSAKI OVERGROWTH SYNDROME
gene_symbol: CEP85L
disease_id: OMIM:618873
disease_name: LISSENCEPHALY 10
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
gene_symbol: CLN6
disease_id: OMIM:204300
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE
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: CACNA1A
disease_id: OMIM:141500
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 1
gene_symbol: CDH2
disease_id: OMIM:618929
disease_name: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME
gene_symbol: TTR
disease_id: OMIM:105210
disease_name: AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
gene_symbol: NPRL3
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
gene_symbol: NPRL2
disease_id: ORPHA:98820
disease_name: Familial focal epilepsy with variable foci
FFEVF
Familial partial epilepsy with variable foci
Phenotype: Inappropriate behavior (HP:0000719)
Associated genes and diseases:
gene_symbol: PIDD1
disease_id: OMIM:619827
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY
gene_symbol: CHMP2B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: CHMP2B
disease_id: OMIM:600795
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7
gene_symbol: PSEN1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: GRN
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TMEM106B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: SQSTM1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: MAPT
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TREM2
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TREM2
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: VCP
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: GM2A
disease_id: ORPHA:309246
disease_name: GM2 gangliosidosis, AB variant
Hexosaminidase activator deficiency
gene_symbol: TYROBP
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: DCTN1
disease_id: OMIM:168605
disease_name: PERRY SYNDROME
gene_symbol: PRKAR1B
disease_id: ORPHA:412066
disease_name: PRKAR1B-related neurodegenerative dementia with intermediate filaments
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
Phenotype: Oculogyric crisis (HP:0010553)
Associated genes and diseases:
gene_symbol: PTS
disease_id: ORPHA:13
disease_name: 6-pyruvoyl-tetrahydropterin synthase deficiency
Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency
gene_symbol: SLC6A3
disease_id: ORPHA:238455
disease_name: Infantile dystonia-parkinsonism
DTDS
Dopamine transporter deficiency syndrome
IPD
PKDYS
gene_symbol: SLC6A3
disease_id: OMIM:613135
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 1
gene_symbol: DNM1L
disease_id: ORPHA:330050
disease_name: DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
gene_symbol: DNAJC12
disease_id: OMIM:617384
disease_name: HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT
gene_symbol: SLC18A2
disease_id: OMIM:618049
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 2
gene_symbol: SLC18A2
disease_id: ORPHA:352649
disease_name: Brain dopamine-serotonin vesicular transport disease
gene_symbol: GRIN1
disease_id: OMIM:614254
disease_name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT
gene_symbol: GRIN1
disease_id: ORPHA:208447
disease_name: Bilateral generalized polymicrogyria
gene_symbol: ATP13A2
disease_id: ORPHA:306674
disease_name: Kufor-Rakeb syndrome
PARK9
gene_symbol: DDC
disease_id: ORPHA:35708
disease_name: Aromatic L-amino acid decarboxylase deficiency
AADC deficiency
gene_symbol: DDC
disease_id: OMIM:608643
disease_name: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
gene_symbol: ACTB
disease_id: OMIM:607371
disease_name: DYSTONIA, JUVENILE-ONSET
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: SPR
disease_id: OMIM:612716
disease_name: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
gene_symbol: SPR
disease_id: ORPHA:70594
disease_name: Dopa-responsive dystonia due to sepiapterin reductase deficiency
Autosomal recessive sepiapterin reductase-deficient DRD
DRD due to SRD
SPR deficiency
Sepiapterin reductase deficiency
gene_symbol: PCBD1
disease_id: ORPHA:1578
disease_name: Pterin-4 alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia due to dehydratase deficiency
Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia with primapterinuria
Phenotype: Vertical clivus (HP:0010559)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
Phenotype: Abnormality of the clivus (HP:0010558)
Associated genes and diseases:
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: FLNA
disease_id: OMIM:304120
disease_name: OTOPALATODIGITAL SYNDROME, TYPE II
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
Phenotype: Lack of spontaneous play (HP:0000721)
Associated genes and diseases:
gene_symbol: MECP2
disease_id: OMIM:300496
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
gene_symbol: NLGN4X
disease_id: OMIM:300495
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
gene_symbol: NLGN3
disease_id: OMIM:300425
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
gene_symbol: SNRPN
disease_id: OMIM:209850
disease_name: AUTISM
Phenotype: Restrictive behavior (HP:0000723)
Associated genes and diseases:
gene_symbol: CHMP2B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: PSEN1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: GRN
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TMEM106B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: SQSTM1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: MAPT
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TREM2
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: VCP
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
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: MECP2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: MECP2
disease_id: OMIM:300496
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 3
gene_symbol: SMC1A
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: NLGN4X
disease_id: OMIM:300495
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2
gene_symbol: NLGN3
disease_id: OMIM:300425
disease_name: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1
gene_symbol: SNRPN
disease_id: OMIM:209850
disease_name: AUTISM
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES