TaoMedAI/RareMedData huggingface dataset:
Phenotype: Cloverleaf skull (HP:0002676)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: FGFR3
disease_id: OMIM:187601
disease_name: THANATOPHORIC DYSPLASIA, TYPE II
gene_symbol: FGFR3
disease_id: OMIM:187600
disease_name: THANATOPHORIC DYSPLASIA, TYPE I
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
gene_symbol: FGFR3
disease_id: ORPHA:1860
disease_name: Thanatophoric dysplasia type 1
TD1
Thanatophoric dwarfism type 1
gene_symbol: FGFR3
disease_id: ORPHA:93274
disease_name: Thanatophoric dysplasia type 2
Cloverleaf skull-micromelic bone dysplasia syndrome
TD2
Thanatophoric dwarfism type 2
Thanatophoric dwarfism-cloverleaf skull syndrome
gene_symbol: FGFR2
disease_id: ORPHA:87
disease_name: Apert syndrome
ACS1
Acrocephalosyndactyly type 1
gene_symbol: FGFR2
disease_id: ORPHA:1555
disease_name: Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Beare-Stevenson cutis gyrata syndrome
gene_symbol: FGFR2
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR2
disease_id: OMIM:123790
disease_name: BEARE-STEVENSON CUTIS GYRATA SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:93259
disease_name: Pfeiffer syndrome type 2
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: FGFR1
disease_id: OMIM:101600
disease_name: PFEIFFER SYNDROME
gene_symbol: FGFR1
disease_id: OMIM:166250
disease_name: OSTEOGLOPHONIC DYSPLASIA
gene_symbol: WDR35
disease_id: OMIM:613610
disease_name: CRANIOECTODERMAL DYSPLASIA 2
gene_symbol: RAB23
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
gene_symbol: MEGF8
disease_id: ORPHA:65759
disease_name: Carpenter syndrome
ACPS2
Acrocephalopolysyndactyly type 2
Phenotype: Reduced delayed hypersensitivity (HP:0002972)
Associated genes and diseases:
gene_symbol: CASP10
disease_id: OMIM:603909
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA
gene_symbol: RAB27A
disease_id: OMIM:607624
disease_name: GRISCELLI SYNDROME, TYPE 2
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
gene_symbol: FASLG
disease_id: OMIM:601859
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
gene_symbol: FAS
disease_id: OMIM:601859
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME
Phenotype: Dysplastic iliac wing (HP:0008794)
Associated genes and diseases:
gene_symbol: MATN3
disease_id: OMIM:608728
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, BOROCHOWITZ-CORMIER-DAIRE TYPE
Phenotype: Early ossification of capital femoral epiphyses (HP:0008797)
Associated genes and diseases:
gene_symbol: CSPP1
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: KIAA0586
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
Phenotype: Recurrent systemic pyogenic infections (HP:0005429)
Associated genes and diseases:
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: GPR35
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: SEMA4D
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MST1
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: TCF4
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
Phenotype: Severe recurrent varicella (HP:0005428)
Associated genes and diseases:
gene_symbol: IL2RG
disease_id: ORPHA:276
disease_name: T-B+ severe combined immunodeficiency due to gamma chain deficiency
SCIDX1
T-B+ SCID due to gamma chain deficiency
T-B+ severe combined immunodeficiency, X-linked
gene_symbol: ARHGEF1
disease_id: OMIM:618459
disease_name: IMMUNODEFICIENCY 62
Phenotype: Cutaneous anergy (HP:0002965)
Associated genes and diseases:
gene_symbol: CIITA
disease_id: OMIM:209920
disease_name: BARE LYMPHOCYTE SYNDROME, TYPE II
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: JAK3
disease_id: OMIM:600802
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
Phenotype: Obtuse angle of mandible (HP:0005446)
Associated genes and diseases:
gene_symbol: FLNA
disease_id: OMIM:309350
disease_name: MELNICK-NEEDLES SYNDROME
gene_symbol: CTSK
disease_id: ORPHA:763
disease_name: Pycnodysostosis
Pyknodysostosis
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
Phenotype: Large sella turcica (HP:0002690)
Associated genes and diseases:
gene_symbol: SOST
disease_id: OMIM:269500
disease_name: SCLEROSTEOSIS 1
gene_symbol: USP48
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: TP53
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: USP8
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: CDH23
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: NR3C1
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: BRAF
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: ATRX
disease_id: ORPHA:96253
disease_name: Cushing disease
Corticotroph pituitary adenoma
Pituitary corticotroph micro-adenoma
Pituitary-dependent Cushing syndrome
gene_symbol: PCNT
disease_id: OMIM:210720
disease_name: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
gene_symbol: ZSWIM6
disease_id: ORPHA:1827
disease_name: Acromelic frontonasal dysplasia
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: GLB1
disease_id: ORPHA:79255
disease_name: GM1 gangliosidosis type 1
Infantile GM1 gangliosidosis
Norman-Landing disease
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
gene_symbol: ABCC9
disease_id: OMIM:239850
disease_name: CANTU SYNDROME
Phenotype: Widely patent coronal suture (HP:0005442)
Associated genes and diseases:
gene_symbol: COL11A1
disease_id: OMIM:228520
disease_name: FIBROCHONDROGENESIS 1
Phenotype: Sclerotic cranial sutures (HP:0005441)
Associated genes and diseases:
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
Phenotype: Maxillozygomatic hypoplasia (HP:0005439)
Associated genes and diseases:
gene_symbol: SF3B2
disease_id: OMIM:164210
disease_name: HEMIFACIAL MICROSOMIA
Phenotype: Recurrent infections in infancy and early childhood (HP:0005437)
Associated genes and diseases:
gene_symbol: TAFAZZIN
disease_id: OMIM:302060
disease_name: BARTH SYNDROME
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated genes and diseases:
gene_symbol: TUBA1A
disease_id: ORPHA:171680
disease_name: Lissencephaly due to TUBA1A mutation
gene_symbol: TUBB3
disease_id: ORPHA:300570
disease_name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
gene_symbol: MACF1
disease_id: OMIM:618325
disease_name: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION
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: DCC
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: DPYSL5
disease_id: OMIM:619435
disease_name: RITSCHER-SCHINZEL SYNDROME 4
gene_symbol: SCN9A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN2A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRA1
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1A
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: SCN1B
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: PCDH19
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: GABRG2
disease_id: ORPHA:33069
disease_name: Dravet syndrome
SMEI
Severe myoclonic epilepsy of infancy
Severe myoclonus epilepsy of infancy
gene_symbol: KDM4B
disease_id: OMIM:619320
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65
Phenotype: Dysgenesis of the basal ganglia (HP:0025102)
Associated genes and diseases:
gene_symbol: TUBA1A
disease_id: ORPHA:171680
disease_name: Lissencephaly due to TUBA1A mutation
gene_symbol: CAMSAP1
disease_id: OMIM:620316
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12
gene_symbol: TUBB2B
disease_id: ORPHA:300573
disease_name: Polymicrogyria due to TUBB2B mutation
gene_symbol: TUBB
disease_id: OMIM:615771
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6
gene_symbol: TUBB3
disease_id: OMIM:600638
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
Phenotype: Nevus anemicus (HP:0025105)
Associated genes and diseases:
gene_symbol: NF1
disease_id: ORPHA:97685
disease_name: 17q11 microdeletion syndrome
Del(17)(q11)
Monosomy 17q11
NF1 microdeletion syndrome
Neurofibromatosis type 1 microdeletion syndrome
Phenotype: Cutis marmorata telangiectatica congenita (HP:0025107)
Associated genes and diseases:
gene_symbol: NOTCH1
disease_id: OMIM:616028
disease_name: ADAMS-OLIVER SYNDROME 5
Phenotype: Reduced red cell pyruvate kinase level (HP:0025109)
Associated genes and diseases:
gene_symbol: PKLR
disease_id: OMIM:266200
disease_name: PYRUVATE KINASE DEFICIENCY OF RED CELLS
gene_symbol: PKLR
disease_id: ORPHA:766
disease_name: Hemolytic anemia due to red cell pyruvate kinase deficiency
Pyruvate kinase deficiency of erythrocytes
Phenotype: Auditory sensitivity (HP:0025112)
Associated genes and diseases:
gene_symbol: MFF
disease_id: ORPHA:485421
disease_name: MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome
Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome
gene_symbol: AUTS2
disease_id: OMIM:615834
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26
gene_symbol: AUTS2
disease_id: ORPHA:352490
disease_name: Autism spectrum disorder due to AUTS2 deficiency
ASD due to AUTS2 deficiency
AUTS2 syndrome
Phenotype: Civatte bodies (HP:0025115)
Associated genes and diseases:
gene_symbol: XYLT1
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: XYLT2
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: ABCC6
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
Phenotype: Lip discoloration (HP:0025118)
Associated genes and diseases:
gene_symbol: CYB5A
disease_id: ORPHA:621
disease_name: Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
gene_symbol: CYB5R3
disease_id: ORPHA:621
disease_name: Hereditary methemoglobinemia
Autosomal recessive methemoglobinemia
Congenital methemoglobinemia
Phenotype: Focal cognitive seizure with deja vu/jamais vu (HP:0012004)
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: Deja vu aura (HP:0012005)
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: EEG with generalized spikes (HP:0012000)
Associated genes and diseases:
gene_symbol: CHD2
disease_id: OMIM:615369
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94
gene_symbol: CACNB4
disease_id: OMIM:613855
disease_name: EPISODIC ATAXIA, TYPE 5
Phenotype: EEG with generalized polyspikes (HP:0012001)
Associated genes and diseases:
gene_symbol: CHD2
disease_id: OMIM:615369
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94
gene_symbol: EFHC1
disease_id: OMIM:254770
disease_name: EPILEPSY, MYOCLONIC JUVENILE
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: GRIN2A
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: GRN
disease_id: OMIM:614706
disease_name: CEROID LIPOFUSCINOSIS, NEURONAL, 11
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
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
Phenotype: Experiential epileptic aura (HP:0012002)
Associated genes and diseases:
gene_symbol: PDE2A
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: SCN8A
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
gene_symbol: PRRT2
disease_id: ORPHA:31709
disease_name: Infantile convulsions and choreoathetosis
ICCA syndrome
Paroxysmal kinesigenic dyskinesia and infantile convulsions
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 sensory seizure with visual features (HP:0011165)
Associated genes and diseases:
gene_symbol: EPM2A
disease_id: OMIM:254780
disease_name: MYOCLONIC EPILEPSY OF LAFORA
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: CNTN2
disease_id: OMIM:615400
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 5
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: NHLRC1
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
Phenotype: Fragile teeth (HP:0025124)
Associated genes and diseases:
gene_symbol: TNFRSF11A
disease_id: OMIM:174810
disease_name: FAMILIAL EXPANSILE OSTEOLYSIS
Phenotype: Actinic keratosis (HP:0025127)
Associated genes and diseases:
gene_symbol: ATR
disease_id: OMIM:614564
disease_name: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
gene_symbol: XPC
disease_id: OMIM:278720
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C
Phenotype: Reduced intraabdominal adipose tissue (HP:0025128)
Associated genes and diseases:
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:269700
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2
gene_symbol: AGPAT2
disease_id: OMIM:608594
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
Phenotype: EEG with frontal focal spikes (HP:0012015)
Associated genes and diseases:
gene_symbol: GRIN2A
disease_id: ORPHA:98818
disease_name: Landau-Kleffner syndrome
Acquired epileptic aphasia
LKS
gene_symbol: ADGRG1
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: PI4KA
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: SRPX2
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: SPTAN1
disease_id: OMIM:620540
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY
Phenotype: EEG with occipital focal spikes (HP:0012016)
Associated genes and diseases:
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
Phenotype: EEG with parietal focal spikes (HP:0012017)
Associated genes and diseases:
gene_symbol: TFE3
disease_id: OMIM:301066
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
gene_symbol: ADGRG1
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: PI4KA
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
gene_symbol: SRPX2
disease_id: ORPHA:98889
disease_name: Bilateral perisylvian polymicrogyria
Phenotype: EEG with temporal focal spikes (HP:0012018)
Associated genes and diseases:
gene_symbol: ARHGEF9
disease_id: ORPHA:163985
disease_name: Hyperekplexia-epilepsy syndrome
gene_symbol: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
gene_symbol: GRIN2A
disease_id: ORPHA:98818
disease_name: Landau-Kleffner syndrome
Acquired epileptic aphasia
LKS