Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated genes and diseases:
gene_symbol: MTHFR
disease_id: ORPHA:395
disease_name: Homocystinuria due to methylene tetrahydrofolate reductase deficiency
MTHFR deficiency
Methylene tetrahydrofolate reductase deficiency
gene_symbol: MTHFR
disease_id: OMIM:236250
disease_name: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
gene_symbol: VHL
disease_id: OMIM:263400
disease_name: ERYTHROCYTOSIS, FAMILIAL, 2
gene_symbol: VHL
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: SCN5A
disease_id: OMIM:614022
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 10
gene_symbol: SCN5A
disease_id: OMIM:601154
disease_name: CARDIOMYOPATHY, DILATED, 1E
gene_symbol: TRPV6
disease_id: OMIM:618188
disease_name: HYPERPARATHYROIDISM, TRANSIENT NEONATAL
gene_symbol: TNXB
disease_id: ORPHA:230839
disease_name: Classical-like Ehlers-Danlos syndrome type 1
Classical-like EDS type 1
Ehlers-Danlos syndrome due to tenascin-X deficiency
clEDS type 1
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: MYH7
disease_id: ORPHA:1880
disease_name: Ebstein malformation of the tricuspid valve
Ebstein anomaly of the tricuspid valve
gene_symbol: GYS1
disease_id: OMIM:611556
disease_name: GLYCOGEN STORAGE DISEASE 0, MUSCLE
gene_symbol: TPP2
disease_id: ORPHA:444463
disease_name: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II
Evans syndrome associated with primary immunodeficiency
TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease
TRIANGLE disease
gene_symbol: NR3C1
disease_id: ORPHA:786
disease_name: Generalized glucocorticoid resistance 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: SNAP29
disease_id: ORPHA:66631
disease_name: CEDNIK syndrome
Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome
gene_symbol: EFEMP2
disease_id: OMIM:614437
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB
gene_symbol: EFEMP2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SLC19A2
disease_id: ORPHA:49827
disease_name: Thiamine-responsive megaloblastic anemia syndrome
Rogers syndrome
TRMA
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss
gene_symbol: SLC19A2
disease_id: OMIM:249270
disease_name: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME
gene_symbol: ADAMTS13
disease_id: OMIM:274150
disease_name: THROMBOTIC THROMBOCYTOPENIC PURPURA, HEREDITARY
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: ADA2
disease_id: OMIM:182410
disease_name: SNEDDON SYNDROME
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: USP48
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: 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: HBB
disease_id: OMIM:603903
disease_name: SICKLE CELL ANEMIA
gene_symbol: DYRK1B
disease_id: OMIM:615812
disease_name: ABDOMINAL OBESITY-METABOLIC SYNDROME 3
gene_symbol: MYH11
disease_id: OMIM:132900
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 4
gene_symbol: MYH11
disease_id: ORPHA:229
disease_name: Familial aortic dissection
Annuloaortic ectasia
Cystic medial necrosis of aorta
gene_symbol: MYH11
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: PLIN1
disease_id: OMIM:613877
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4
gene_symbol: ANO1
disease_id: OMIM:620687
disease_name: MOYAMOYA DISEASE 7
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
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: PIGA
disease_id: ORPHA:447
disease_name: Paroxysmal nocturnal hemoglobinuria
Marchiafava-Micheli disease
PNH
gene_symbol: HSD11B2
disease_id: ORPHA:320
disease_name: Apparent mineralocorticoid excess
11-beta-hydroxysteroid dehydrogenase deficiency type 2
Ulick syndrome
gene_symbol: FLNC
disease_id: OMIM:617047
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
gene_symbol: FLNC
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: MECP2
disease_id: ORPHA:3077
disease_name: X-linked intellectual disability-psychosis-macroorchidism syndrome
Lindsay-Burn syndrome
PPM-X
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
gene_symbol: CITED2
disease_id: ORPHA:99105
disease_name: Atrial septal defect, sinus venosus type
ASD, sinus venosus type
gene_symbol: CITED2
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: NOTCH3
disease_id: OMIM:125310
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
gene_symbol: NOTCH3
disease_id: ORPHA:136
disease_name: Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
CADASIL
Hereditary multi-infarct dementia
gene_symbol: CST3
disease_id: OMIM:105150
disease_name: CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED
gene_symbol: CST3
disease_id: ORPHA:100008
disease_name: ACys amyloidosis
CST3-related amyloidosis
Cystatin amyloidosis
HCHWA, Icelandic type
Hereditary cerebral hemorrhage with amyloidosis, Icelandic type
Hereditary cystatin C amyloid angiopathy
gene_symbol: TLL1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: TBX20
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: MYH6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: NKX2-5
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: ACTC1
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA4
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: GATA6
disease_id: ORPHA:99103
disease_name: Atrial septal defect, ostium secundum type
ASD, ostium secundum type
gene_symbol: HTRA1
disease_id: ORPHA:199354
disease_name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL
Maeda syndrome
gene_symbol: HTRA1
disease_id: OMIM:616779
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2
gene_symbol: HTRA1
disease_id: OMIM:600142
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
gene_symbol: MYBPC3
disease_id: OMIM:115197
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4
gene_symbol: TREX1
disease_id: OMIM:192315
disease_name: VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS
gene_symbol: MYPN
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: TNNT2
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: TNNI3
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: KIF20A
disease_id: ORPHA:75249
disease_name: Familial isolated restrictive cardiomyopathy
Familial or idiopathic restrictive cardiomyopathy
gene_symbol: CCM2
disease_id: OMIM:603284
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS 2
gene_symbol: AGXT
disease_id: ORPHA:93598
disease_name: Primary hyperoxaluria type 1
Glycolic aciduria
Peroxisomal alanine-glyoxylate aminotransferase deficiency
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: FLNA
disease_id: OMIM:300049
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 1
gene_symbol: XYLT1
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: XYLT2
disease_id: OMIM:264800
disease_name: PSEUDOXANTHOMA ELASTICUM
gene_symbol: FHOD3
disease_id: OMIM:619402
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28
gene_symbol: SMARCAL1
disease_id: ORPHA:1830
disease_name: Schimke immuno-osseous dysplasia
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
gene_symbol: SMARCAL1
disease_id: OMIM:242900
disease_name: SCHIMKE IMMUNOOSSEOUS DYSPLASIA
gene_symbol: TTR
disease_id: ORPHA:85451
disease_name: ATTRV122I amyloidosis
ATTRV122I-related amyloidosis
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: ACAD9
disease_id: OMIM:611126
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: CCND1
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: F2
disease_id: OMIM:601367
disease_name: STROKE, ISCHEMIC
gene_symbol: NOS3
disease_id: OMIM:601367
disease_name: STROKE, ISCHEMIC
gene_symbol: PRKCH
disease_id: OMIM:601367
disease_name: STROKE, ISCHEMIC
gene_symbol: F5
disease_id: OMIM:601367
disease_name: STROKE, ISCHEMIC
gene_symbol: ALOX5AP
disease_id: OMIM:601367
disease_name: STROKE, ISCHEMIC
gene_symbol: SNORD118
disease_id: ORPHA:542310
disease_name: Leukoencephalopathy with calcifications and cysts
LCC
Labrune syndrome
gene_symbol: NAGS
disease_id: ORPHA:927
disease_name: Hyperammonemia due to N-acetylglutamate synthase deficiency
NAGS deficiency
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: ASS1
disease_id: OMIM:215700
disease_name: CITRULLINEMIA, CLASSIC
gene_symbol: CBS
disease_id: OMIM:236200
disease_name: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
gene_symbol: IL12B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: HLA-B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: MLX
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: PIK3C2A
disease_id: ORPHA:557003
disease_name: Oculoskeletodental syndrome
Oculo-skeleto-dental syndrome
gene_symbol: PNP
disease_id: ORPHA:760
disease_name: Purine nucleoside phosphorylase deficiency
PNP deficiency
PNPase deficiency
gene_symbol: MYD88
disease_id: ORPHA:33226
disease_name: Waldenström macroglobulinemia
gene_symbol: NPPA
disease_id: OMIM:615745
disease_name: ATRIAL STANDSTILL 2
gene_symbol: CPS1
disease_id: OMIM:237300
disease_name: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: ZAP70
disease_id: ORPHA:911
disease_name: Combined immunodeficiency due to ZAP70 deficiency
Zeta-associated-protein 70 deficiency
gene_symbol: TGFBR1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFBR2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: LOX
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SMAD2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFB3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: SMAD3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: TGFB2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: FBN1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: PRKG1
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: FOXE3
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MAT2A
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: HEY2
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MFAP5
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MYLK
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: THSD4
disease_id: ORPHA:91387
disease_name: Familial thoracic aortic aneurysm and aortic dissection
Familial TAAD
Familial non-syndromic thoracic aortic aneurysm and aortic dissection
gene_symbol: MMUT
disease_id: ORPHA:79312
disease_name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
Partial deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut-
gene_symbol: CHMP2B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: PSEN1
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: GRN
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TMEM106B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: MAPT
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TREM2
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: VCP
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: EPOR
disease_id: OMIM:133100
disease_name: ERYTHROCYTOSIS, FAMILIAL, 1
gene_symbol: EXT2
disease_id: OMIM:616682
disease_name: SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME
gene_symbol: GGCX
disease_id: OMIM:277450
disease_name: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
gene_symbol: TMEM127
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: TMEM127
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MAX
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: MAX
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: KIF1B
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: KIF1B
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: RET
disease_id: OMIM:171300
disease_name: PHEOCHROMOCYTOMA
gene_symbol: RET
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: RET
disease_id: ORPHA:276621
disease_name: Sporadic pheochromocytoma/secreting paraganglioma
gene_symbol: DLST
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MDH2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHA
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: FH
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SLC25A11
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHAF2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHC
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHD
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHD
disease_id: ORPHA:276621
disease_name: Sporadic pheochromocytoma/secreting paraganglioma
gene_symbol: SDHB
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHB
disease_id: ORPHA:276621
disease_name: Sporadic pheochromocytoma/secreting paraganglioma
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
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: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: IKBKG
disease_id: OMIM:301081
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, X-LINKED
gene_symbol: HADHB
disease_id: OMIM:620300
disease_name: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2
gene_symbol: FN1
disease_id: ORPHA:84090
disease_name: Fibronectin glomerulopathy
GFND
Glomerulopathy with fibronectin deposits
gene_symbol: FGA
disease_id: ORPHA:98880
disease_name: Familial afibrinogenemia
gene_symbol: FGB
disease_id: ORPHA:98880
disease_name: Familial afibrinogenemia
gene_symbol: FGG
disease_id: ORPHA:98880
disease_name: Familial afibrinogenemia
gene_symbol: CFH
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: CFI
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: CD46
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: HELLPAR
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: ACTA1
disease_id: OMIM:620278
disease_name: CONGENITAL MYOPATHY 2C, SEVERE INFANTILE, AUTOSOMAL DOMINANT
gene_symbol: F13B
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: LMOD2
disease_id: OMIM:619897
disease_name: CARDIOMYOPATHY, DILATED, 2G
gene_symbol: USP18
disease_id: OMIM:617397
disease_name: PSEUDO-TORCH SYNDROME 2
gene_symbol: STAT2
disease_id: OMIM:618886
disease_name: PSEUDO-TORCH SYNDROME 3
gene_symbol: DNMT3A
disease_id: ORPHA:276621
disease_name: Sporadic pheochromocytoma/secreting paraganglioma
gene_symbol: EPAS1
disease_id: ORPHA:276621
disease_name: Sporadic pheochromocytoma/secreting paraganglioma
gene_symbol: FCGR2C
disease_id: ORPHA:3002
disease_name: Immune thrombocytopenia
ITP
Immune thrombocytopenic purpura
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
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: BRCC3
disease_id: ORPHA:280679
disease_name: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: ITGA2B
disease_id: OMIM:273800
disease_name: GLANZMANN THROMBASTHENIA 1
gene_symbol: ITGA2B
disease_id: ORPHA:853
disease_name: Fetal and neonatal alloimmune thrombocytopenia
FNAIT
NAIT
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: SAMD9
disease_id: OMIM:617053
disease_name: MIRAGE SYNDROME
gene_symbol: F7
disease_id: OMIM:227500
disease_name: FACTOR VII DEFICIENCY
gene_symbol: F7
disease_id: ORPHA:327
disease_name: Congenital factor VII deficiency
Congenital proconvertin deficiency
Hypoproconvertinemia
gene_symbol: GBA1
disease_id: ORPHA:85212
disease_name: Fetal Gaucher disease
Perinatal lethal Gaucher disease
gene_symbol: TMEM237
disease_id: OMIM:614424
disease_name: JOUBERT SYNDROME 14
gene_symbol: ATP7A
disease_id: OMIM:309400
disease_name: MENKES DISEASE
gene_symbol: ATP7A
disease_id: ORPHA:565
disease_name: Menkes disease
MD
Menkes kinky hair disease
Menkes syndrome
gene_symbol: WAS
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: WIPF1
disease_id: ORPHA:906
disease_name: Wiskott-Aldrich syndrome
Eczema-thrombocytopenia-immunodeficiency syndrome
WAS
gene_symbol: PTEN
disease_id: ORPHA:109
disease_name: Bannayan-Riley-Ruvalcaba syndrome
BRRS
Myhre-Riley-Smith syndrome
gene_symbol: SERPINF2
disease_id: ORPHA:79
disease_name: Congenital alpha2-antiplasmin deficiency
gene_symbol: SERPINE1
disease_id: ORPHA:465
disease_name: Congenital plasminogen activator inhibitor type 1 deficiency
Congenital PAI-1 deficiency
gene_symbol: ALPL
disease_id: OMIM:241500
disease_name: HYPOPHOSPHATASIA, INFANTILE
gene_symbol: LMAN1
disease_id: ORPHA:35909
disease_name: Combined deficiency of factor V and factor VIII
F5F8D
FV and FVIII combined deficiency
gene_symbol: MCFD2
disease_id: ORPHA:35909
disease_name: Combined deficiency of factor V and factor VIII
F5F8D
FV and FVIII combined deficiency
gene_symbol: F13A1
disease_id: OMIM:613225
disease_name: FACTOR XIII, A SUBUNIT, DEFICIENCY OF
gene_symbol: GP1BA
disease_id: ORPHA:853
disease_name: Fetal and neonatal alloimmune thrombocytopenia
FNAIT
NAIT
gene_symbol: GP1BB
disease_id: ORPHA:853
disease_name: Fetal and neonatal alloimmune thrombocytopenia
FNAIT
NAIT
gene_symbol: ITGA2
disease_id: ORPHA:853
disease_name: Fetal and neonatal alloimmune thrombocytopenia
FNAIT
NAIT
gene_symbol: CD109
disease_id: ORPHA:853
disease_name: Fetal and neonatal alloimmune thrombocytopenia
FNAIT
NAIT
gene_symbol: ITGB3
disease_id: ORPHA:853
disease_name: Fetal and neonatal alloimmune thrombocytopenia
FNAIT
NAIT
gene_symbol: CYP11B1
disease_id: ORPHA:90795
disease_name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
gene_symbol: CYP11B1
disease_id: ORPHA:403
disease_name: Familial hyperaldosteronism type I
Dexamethasone-sensitive hypertension
FH-I
FH1
Familial hyperaldosteronism type 1
GRA
Glucocorticoid-remediable aldosteronism
Glucocorticoid-sensitive hypertension
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: F10
disease_id: OMIM:227600
disease_name: FACTOR X DEFICIENCY
gene_symbol: PDCD10
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: KRIT1
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: COL4A2
disease_id: OMIM:614483
disease_name: BRAIN SMALL VESSEL DISEASE 2
gene_symbol: F8
disease_id: ORPHA:169805
disease_name: Moderate hemophilia A
Moderate congenital F8 deficiency
Moderate congenital factor VIII deficiency
gene_symbol: F8
disease_id: ORPHA:169802
disease_name: Severe hemophilia A
Severe congenital F8 deficiency
Severe congenital factor VIII deficiency
gene_symbol: CYP26C1
disease_id: ORPHA:398189
disease_name: Focal facial dermal dysplasia type IV
FFDD type IV
FFDD4
Focal facial dermal dysplasia 4
Focal facial preauricular dysplasia
gene_symbol: GATA2
disease_id: ORPHA:228423
disease_name: GATA2 deficiency spectrum
GATA binding protein 2 deficiency spectrum
gene_symbol: CLCN2
disease_id: ORPHA:404
disease_name: Familial hyperaldosteronism type II
FH-II
FH2
Familial hyperaldosteronism type 2
gene_symbol: CYP11B2
disease_id: ORPHA:403
disease_name: Familial hyperaldosteronism type I
Dexamethasone-sensitive hypertension
FH-I
FH1
Familial hyperaldosteronism type 1
GRA
Glucocorticoid-remediable aldosteronism
Glucocorticoid-sensitive hypertension
gene_symbol: CACNA1D
disease_id: ORPHA:369929
disease_name: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
gene_symbol: SIN3A
disease_id: OMIM:613406
disease_name: WITTEVEEN-KOLK SYNDROME
gene_symbol: KCNJ5
disease_id: ORPHA:251274
disease_name: Familial hyperaldosteronism type III
FH-III
FH3
Familial hyperaldosteronism type 3
gene_symbol: THSD1
disease_id: ORPHA:231160
disease_name: Familial cerebral saccular aneurysm
Familial berry aneurysm
Familial intracranial saccular aneurysm
gene_symbol: TGFBR3
disease_id: ORPHA:231160
disease_name: Familial cerebral saccular aneurysm
Familial berry aneurysm
Familial intracranial saccular aneurysm
gene_symbol: COL3A1
disease_id: ORPHA:231160
disease_name: Familial cerebral saccular aneurysm
Familial berry aneurysm
Familial intracranial saccular aneurysm
gene_symbol: ANGPTL6
disease_id: ORPHA:231160
disease_name: Familial cerebral saccular aneurysm
Familial berry aneurysm
Familial intracranial saccular aneurysm
gene_symbol: ESAM
disease_id: OMIM:620371
disease_name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
gene_symbol: THPO
disease_id: ORPHA:71493
disease_name: Familial thrombocytosis
Familial thrombocythemia
Hereditary thrombocythemia
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: PRNP
disease_id: ORPHA:282166
disease_name: Inherited Creutzfeldt-Jakob disease
Inherited CJD
gene_symbol: NDUFA8
disease_id: OMIM:619272
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37
gene_symbol: MT-TS1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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-TS2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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-ND1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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-TL1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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-TL2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CO1
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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-CO2
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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-CO3
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-CYB
disease_id: ORPHA:137675
disease_name: Histiocytoid cardiomyopathy
Foamy myocardial transformation of infancy
Infantile cardiomyopathy with histiocytoid change
Infantile xanthomatous cardiomyopathy
Oncocytic cardiomyopathy
gene_symbol: MT-TC
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TQ
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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: MT-TV
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TW
disease_id: OMIM:540000
disease_name: 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-TF
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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: MT-TK
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
gene_symbol: MT-TH
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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-ND5
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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-ND6
disease_id: OMIM:540000
disease_name: MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
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: WFS1
disease_id: OMIM:222300
disease_name: WOLFRAM SYNDROME 1
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: LIG3
disease_id: OMIM:619780
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE)
gene_symbol: DPM3
disease_id: ORPHA:263494
disease_name: DPM3-CDG
CDG syndrome type Io
CDG-Io
CDG1O
Carbohydrate deficient glycoprotein syndrome type Io
Congenital disorder of glycosylation type 1o
Congenital disorder of glycosylation type Io
gene_symbol: STIM1
disease_id: OMIM:185070
disease_name: STORMORKEN SYNDROME
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: 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: CMPK2
disease_id: OMIM:621018
disease_name: OMIM:621018
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: KRAS
disease_id: OMIM:108010
disease_name: ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
gene_symbol: IL6
disease_id: OMIM:108010
disease_name: ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
gene_symbol: RASA1
disease_id: ORPHA:90307
disease_name: Parkes Weber syndrome
gene_symbol: SLC20A2
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: PDGFRB
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: XPR1
disease_id: OMIM:213600
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1
gene_symbol: ALDH18A1
disease_id: OMIM:616603
disease_name: CUTIS LAXA, AUTOSOMAL DOMINANT 3
gene_symbol: COL5A1
disease_id: OMIM:619329
disease_name: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: DNAJB11
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: GANAB
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: GANAB
disease_id: OMIM:600666
disease_name: POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: PKD1
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: PKD2
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: NEK8
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: ALG5
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: IFT140
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: ALG9
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: BICC1
disease_id: ORPHA:730
disease_name: Autosomal dominant polycystic kidney disease
ADPKD
gene_symbol: STAT1
disease_id: ORPHA:391487
disease_name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: FARSB
disease_id: OMIM:613658
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
gene_symbol: PRKCSH
disease_id: OMIM:174050
disease_name: POLYCYSTIC LIVER DISEASE 1 WITH OR WITHOUT KIDNEY CYSTS
gene_symbol: PRKCSH
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
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
gene_symbol: COL1A1
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: COL1A1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COL5A2
disease_id: ORPHA:287
disease_name: Classical Ehlers-Danlos syndrome
Classical EDS
cEDS
gene_symbol: BMP1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINF1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COL1A2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: NBAS
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MESD
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MIA3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KIF5B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PHLDB1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CREB3L1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT11
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SLC10A7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC16B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SEC24D
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P3H1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: P4HA1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SERPINH1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLOD3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: IFITM5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CCDC134
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CRTAP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: PLS3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B3GAT3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: B4GALT7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TENT5A
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: GORAB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TAPT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SGMS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: FKBP10
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: COPB2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: SP7
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: AMBN
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: KDELR2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LIFR
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: DSPP
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: TMEM38B
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: WNT1
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: MBTPS2
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: CHST3
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LRP5
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: LRP5
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: PPIB
disease_id: OMIM:612394
disease_name: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS
gene_symbol: ALG8
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: SEC63
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: APOA1
disease_id: OMIM:620657
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: POLR3F
disease_id: OMIM:619872
disease_name: IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
gene_symbol: CPT2
disease_id: OMIM:608836
disease_name: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL
gene_symbol: LDLR
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: PCSK9
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: LDLRAP1
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: APOB
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG5
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: ABCG8
disease_id: ORPHA:391665
disease_name: Homozygous familial hypercholesterolemia
HoFH
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
gene_symbol: IVD
disease_id: OMIM:243500
disease_name: ISOVALERIC ACIDEMIA
gene_symbol: PCCA
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: PCCB
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: RNASEH2A
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2C
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: SAMHD1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2B
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: ADAR
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNU7-1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: LSM11
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: IFIH1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: MSX2
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: ALX4
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: ASXL2
disease_id: OMIM:617190
disease_name: SHASHI-PENA SYNDROME
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: RPL10
disease_id: OMIM:300998
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: CLCN3
disease_id: OMIM:619517
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES
gene_symbol: SIAH1
disease_id: OMIM:619314
disease_name: BURATTI-HAREL SYNDROME
gene_symbol: RIN2
disease_id: OMIM:613075
disease_name: MACS SYNDROME
gene_symbol: ALG2
disease_id: OMIM:607906
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii
gene_symbol: PLXNA1
disease_id: OMIM:619955
disease_name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: PAFAH1B1
disease_id: ORPHA:95232
disease_name: Lissencephaly due to LIS1 mutation
PAFAH1B1-related lissencephaly
gene_symbol: PAFAH1B1
disease_id: OMIM:607432
disease_name: LISSENCEPHALY 1
gene_symbol: H3-3A
disease_id: OMIM:619720
disease_name: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: GLUL
disease_id: OMIM:620806
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 116
gene_symbol: KMT5B
disease_id: OMIM:617788
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
gene_symbol: DCX
disease_id: ORPHA:2148
disease_name: Lissencephaly type 1 due to doublecortin gene mutation
X-linked lissencephaly type 1
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: EDN1
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: PLCB4
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: NFIA
disease_id: ORPHA:401986
disease_name: 1p31p32 microdeletion syndrome
Del(1)(p31p32)
Monosomy 1p31p32
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: PET100
disease_id: OMIM:619055
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12
gene_symbol: MARS2
disease_id: OMIM:616430
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: LMBRD1
disease_id: ORPHA:79284
disease_name: Methylmalonic acidemia with homocystinuria type cblF
CblF defect
Cobalamin F defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF
Lysosomal membrane cobalamin transporter deficiency
Methylmalonic aciduria with homocystinuria, type cblF
gene_symbol: SPARC
disease_id: OMIM:616507
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XVII
gene_symbol: RNF168
disease_id: ORPHA:420741
disease_name: RIDDLE syndrome
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
gene_symbol: COLGALT1
disease_id: OMIM:618360
disease_name: BRAIN SMALL VESSEL DISEASE 3
gene_symbol: NAGA
disease_id: OMIM:609242
disease_name: KANZAKI DISEASE
gene_symbol: ATP2B1
disease_id: OMIM:619910
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66
gene_symbol: DHPS
disease_id: OMIM:618480
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT
gene_symbol: HES7
disease_id: OMIM:613686
disease_name: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE
gene_symbol: BICD2
disease_id: OMIM:618291
disease_name: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
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: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
gene_symbol: DNM2
disease_id: OMIM:615368
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 5
gene_symbol: STT3A
disease_id: OMIM:619714
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT
gene_symbol: RBM10
disease_id: OMIM:311900
disease_name: TARP SYNDROME
gene_symbol: PIK3CA
disease_id: ORPHA:276280
disease_name: Hemihyperplasia-multiple lipomatosis syndrome
HHML
gene_symbol: GDF2
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: ACVRL1
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: SMAD4
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: ENG
disease_id: ORPHA:774
disease_name: Hereditary hemorrhagic telangiectasia
HHT
Rendu-Osler disease
Rendu-Osler-Weber disease
gene_symbol: APP
disease_id: ORPHA:324703
disease_name: ABetaL34V amyloidosis
ABeta amyloidosis, Piedmont type
ABetaL34V-related amyloidosis
HCHWA, Piedmont type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
gene_symbol: APP
disease_id: ORPHA:324708
disease_name: ABeta amyloidosis, Iowa type
ABetaD23N amyloidosis
HCHWA, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
gene_symbol: PCNT
disease_id: ORPHA:2637
disease_name: Microcephalic osteodysplastic primordial dwarfism type II
MOPD type II
Majewski osteodysplastic primordial dwarfism type II
gene_symbol: CUL7
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: OBSL1
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
gene_symbol: CCDC8
disease_id: ORPHA:2616
disease_name: 3M syndrome
3-M syndrome
Yakut short stature syndrome
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: DNAJC30
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: DIAPH1
disease_id: ORPHA:2573
disease_name: Moyamoya disease
Idiopathic Moyamoya disease
gene_symbol: ACTA2
disease_id: ORPHA:2573
disease_name: Moyamoya disease
Idiopathic Moyamoya disease
gene_symbol: RNF213
disease_id: ORPHA:2573
disease_name: Moyamoya disease
Idiopathic Moyamoya disease
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: PROS1
disease_id: ORPHA:743
disease_name: Severe hereditary thrombophilia due to congenital protein S deficiency
Autosomal recessive thrombophilia due to congenital protein S deficiency
gene_symbol: PROC
disease_id: ORPHA:745
disease_name: Severe hereditary thrombophilia due to congenital protein C deficiency
Autosomal recessive thrombophilia due to PC deficiency
Autosomal recessive thrombophilia due to congenital protein C deficiency
gene_symbol: GNAQ
disease_id: ORPHA:3205
disease_name: Sturge-Weber syndrome
Encephalofacial angiomatosis
Encephalotrigeminal angiomatosis
SWS
Sturge-Weber-Dimitri syndrome
Sturge-Weber-Krabbe angiomatosis
Sturge-Weber-Krabbe syndrome
gene_symbol: MCCC1
disease_id: ORPHA:6
disease_name: 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria
MCC deficiency
MCCD
gene_symbol: MCCC2
disease_id: ORPHA:6
disease_name: 3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonylglycinuria
MCC deficiency
MCCD
gene_symbol: GUCY1A1
disease_id: ORPHA:401945
disease_name: Moyamoya disease with early-onset achalasia
gene_symbol: SH2B3
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: CALR
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: TP53
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: MPL
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: JAK2
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: TET2
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: ANTXR1
disease_id: ORPHA:2067
disease_name: GAPO syndrome
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
gene_symbol: EPHB4
disease_id: ORPHA:1053
disease_name: Vein of Galen aneurysmal malformation
Vein of Galen arteriovenous malformations
gene_symbol: ENPP1
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: ABCC6
disease_id: ORPHA:758
disease_name: Pseudoxanthoma elasticum
Gronblad-Strandberg-Touraine syndrome
PXE
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: AIRE
disease_id: ORPHA:3453
disease_name: Autoimmune polyendocrinopathy type 1
APECED syndrome
APS type 1
APS1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome