Human Phenotype Ontology 
Grandparent Node:
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Abnormality of brain morphology (HP:0012443)help
Grandparent Node:
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Abnormality of the vasculature (HP:0002597)help
Parent Node:
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Abnormal cerebral vascular morphology (HP:0100659)help
..Starting node
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Stroke (HP:0001297)help
Term ID: 1297
Name: Stroke
Synonym: Cerebral vascular events; Cerebrovascular accident; Cerebrovascular accidents; Stroke
Definition: Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain.
Comments:
Reference: HP:0001297
Genes and Diseases:
 
       Child Nodes:
........expandIschemic stroke (HP:0002140) help
........expandTransient ischemic attack (HP:0002326) help
........expandStroke-like episode (HP:0002401) help

 Sister Nodes: 
..expandAbnormal cerebral artery morphology (HP:0009145) help
..expandAbnormal cerebral vein morphology (HP:0012480) help
..expandCerebral arteriovenous malformation (HP:0002408) help
..expandCerebral vasculitis (HP:0005318) help
..expandDilation of Virchow-Robin spaces (HP:0012520) help
..expandIntracranial hemorrhage (HP:0002170) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001297HP:0001297Stroke0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare415
HP:0001297HP:0001297Stroke0ABCC6 CL E G H36857OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE415
HP:0001297HP:0001297Stroke0ACAD9 CL E G H2897621497OMIM:611126Mitochondrial complex I deficiency due to acad9 deficiency.98
HP:0001297HP:0001297Stroke0ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0001297HP:0001297Stroke0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0001297HP:0001297Stroke0ACTC1 CL E G H70143ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare208
HP:0001297HP:0001297Stroke0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0001297HP:0001297Stroke0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasia178
HP:0001297HP:0001297Stroke0ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2178
HP:0001297HP:0001297Stroke0ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0001297HP:0001297Stroke0ADA2 CL E G H518161839OMIM:615688Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome22
HP:0001297HP:0001297Stroke0ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary129
HP:0001297HP:0001297Stroke0AGXT CL E G H189341ORPHA:93598Primary hyperoxaluria type 1HP:0040284 - Very rare260
HP:0001297HP:0001297Stroke0ALOX5AP CL E G H241436OMIM:601367STROKE, ISCHEMIC1
HP:0001297HP:0001297Stroke0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0001297HP:0001297Stroke0ANGPTL6 CL E G H8385423140ORPHA:231160Familial cerebral saccular aneurysm
HP:0001297HP:0001297Stroke0APP CL E G H351620ORPHA:100006ABeta amyloidosis, Dutch typeHP:0040281 - Very frequent74
HP:0001297HP:0001297Stroke0APP CL E G H351620ORPHA:324708ABeta amyloidosis, Iowa typeHP:0040281 - Very frequent74
HP:0001297HP:0001297Stroke0APP CL E G H351620ORPHA:324713ABeta amyloidosis, Italian typeHP:0040281 - Very frequent74
HP:0001297HP:0001297Stroke0APP CL E G H351620ORPHA:324703ABetaL34V amyloidosisHP:0040281 - Very frequent74
HP:0001297HP:0001297Stroke0APP CL E G H351620OMIM:605714Cerebral amyloid angiopathy, APP-related.74
HP:0001297HP:0001297Stroke0ASS1 CL E G H445758OMIM:215700Citrullinemia, classicHP:0040283 - Occasional119
HP:0001297HP:0001297Stroke0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0001297HP:0001297Stroke0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040283 - Occasional38
HP:0001297HP:0001297Stroke0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0001297HP:0001297Stroke0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0001297HP:0001297Stroke0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0CALR CL E G H8111455ORPHA:3318Essential thrombocythemia1
HP:0001297HP:0001297Stroke0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0001297HP:0001297Stroke0CCM2 CL E G H8360521708OMIM:603284Cerebral cavernous malformations-2.37
HP:0001297HP:0001297Stroke0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0001297HP:0001297Stroke0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0001297HP:0001297Stroke0CITED2 CL E G H103701987ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare5
HP:0001297HP:0001297Stroke0CITED2 CL E G H103701987ORPHA:99105Atrial septal defect, sinus venosus typeHP:0040284 - Very rare5
HP:0001297HP:0001297Stroke0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0COL3A1 CL E G H12812201ORPHA:231160Familial cerebral saccular aneurysm749
HP:0001297HP:0001297Stroke0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndrome749
HP:0001297HP:0001297Stroke0COL4A1 CL E G H12822202OMIM:611773Angiopathy, hereditary, with nephropathy, aneurysms, and muscle crampsHP:0040283 - Occasional193
HP:0001297HP:0001297Stroke0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0001297HP:0001297Stroke0COX1 CL E G H45127419ORPHA:550MELAS
HP:0001297HP:0001297Stroke0COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0COX2 CL E G H45137421ORPHA:550MELAS
HP:0001297HP:0001297Stroke0COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0COX3 CL E G H45147422ORPHA:550MELAS
HP:0001297HP:0001297Stroke0COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due toHP:0040283 - Occasional124
HP:0001297HP:0001297Stroke0CST3 CL E G H14712475ORPHA:100008ACys amyloidosisHP:0040281 - Very frequent3
HP:0001297HP:0001297Stroke0CST3 CL E G H14712475OMIM:105150Amyloidosis VI.3
HP:0001297HP:0001297Stroke0CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathy
HP:0001297HP:0001297Stroke0CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0001297HP:0001297Stroke0DPM3 CL E G H543443007ORPHA:263494DPM3-CDG9
HP:0001297HP:0001297Stroke0DYRK1B CL E G H91493092OMIM:615812Abdominal obesity-metabolic syndrome 3HP:0040283 - Occasional7
HP:0001297HP:0001297Stroke0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0001297HP:0001297Stroke0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0001297HP:0001297Stroke0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0001297HP:0001297Stroke0ENG CL E G H20223349ORPHA:231160Familial cerebral saccular aneurysm186
HP:0001297HP:0001297Stroke0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasia186
HP:0001297HP:0001297Stroke0ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1186
HP:0001297HP:0001297Stroke0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare151
HP:0001297HP:0001297Stroke0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare199
HP:0001297HP:0001297Stroke0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040284 - Very rare55
HP:0001297HP:0001297Stroke0F2 CL E G H21473535OMIM:601367STROKE, ISCHEMIC44
HP:0001297HP:0001297Stroke0F5 CL E G H21533542OMIM:601367STROKE, ISCHEMIC159
HP:0001297HP:0001297Stroke0FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0001297HP:0001297Stroke0FHOD3 CL E G H8020626178OMIM:619402CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001297HP:0001297Stroke0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0FLNA CL E G H23163754OMIM:300049Heterotopia, periventricular, X-linked dominant.493
HP:0001297HP:0001297Stroke0FLNC CL E G H23183756OMIM:617047Cardiomyopathy, familial hypertrophic, 26197
HP:0001297HP:0001297Stroke0FLNC CL E G H23183756ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040284 - Very rare197
HP:0001297HP:0001297Stroke0FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0001297HP:0001297Stroke0GATA4 CL E G H26264173ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare87
HP:0001297HP:0001297Stroke0GATA6 CL E G H26274174ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare37
HP:0001297HP:0001297Stroke0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasia8
HP:0001297HP:0001297Stroke0GLA CL E G H27174296OMIM:301500Fabry disease291
HP:0001297HP:0001297Stroke0GLA CL E G H27174296ORPHA:324Fabry disease291
HP:0001297HP:0001297Stroke0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040282 - Frequent7
HP:0001297HP:0001297Stroke0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001297HP:0001297Stroke0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001297HP:0001297Stroke0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001297HP:0001297Stroke0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001297HP:0001297Stroke0GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia
HP:0001297HP:0001297Stroke0GUCY1A1 CL E G H29824685ORPHA:401945Moyamoya disease with early-onset achalasiaHP:0040280 - Obligate
HP:0001297HP:0001297Stroke0GYS1 CL E G H29974706OMIM:611556Glycogen storage disease 0, muscle.52
HP:0001297HP:0001297Stroke0HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0001297HP:0001297Stroke0HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0001297HP:0001297Stroke0HSD11B2 CL E G H32915209ORPHA:320Apparent mineralocorticoid excessHP:0040283 - Occasional14
HP:0001297HP:0001297Stroke0HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).34
HP:0001297HP:0001297Stroke0HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2.34
HP:0001297HP:0001297Stroke0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001297HP:0001297Stroke0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0001297HP:0001297Stroke0JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemia57
HP:0001297HP:0001297Stroke0JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosis57
HP:0001297HP:0001297Stroke0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040283 - Occasional57
HP:0001297HP:0001297Stroke0JAK2 CL E G H37176192OMIM:614521Thrombocythemia 357
HP:0001297HP:0001297Stroke0KIF20A CL E G H101129787ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040284 - Very rare
HP:0001297HP:0001297Stroke0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome196
HP:0001297HP:0001297Stroke0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0001297HP:0001297Stroke0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0001297HP:0001297Stroke0LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0001297HP:0001297Stroke0LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type191
HP:0001297HP:0001297Stroke0MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0001297HP:0001297Stroke0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndromeHP:0040283 - Occasional950
HP:0001297HP:0001297Stroke0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001297HP:0001297Stroke0MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0001297HP:0001297Stroke0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0001297HP:0001297Stroke0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0001297HP:0001297Stroke0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040284 - Very rare101
HP:0001297HP:0001297Stroke0MMUT CL E G H45947526ORPHA:79312Vitamin B12-unresponsive methylmalonic acidemia type mut-HP:0040283 - Occasional
HP:0001297HP:0001297Stroke0MPL CL E G H43527217ORPHA:3318Essential thrombocythemia97
HP:0001297HP:0001297Stroke0MPL CL E G H43527217ORPHA:71493Familial thrombocytosis97
HP:0001297HP:0001297Stroke0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040283 - Occasional97
HP:0001297HP:0001297Stroke0MTHFR CL E G H45247436OMIM:236250Homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolatereductase activity.183
HP:0001297HP:0001297Stroke0MTHFR CL E G H45247436ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiencyHP:0040284 - Very rare183
HP:0001297HP:0001297Stroke0MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 4.1143
HP:0001297HP:0001297Stroke0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040283 - Occasional9
HP:0001297HP:0001297Stroke0MYH11 CL E G H46297569OMIM:132900Aortic aneurysm, familial thoracic 4418
HP:0001297HP:0001297Stroke0MYH11 CL E G H46297569ORPHA:229Familial aortic dissectionHP:0040283 - Occasional418
HP:0001297HP:0001297Stroke0MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0001297HP:0001297Stroke0MYH6 CL E G H46247576ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare452
HP:0001297HP:0001297Stroke0MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0001297HP:0001297Stroke0MYPN CL E G H8466523246ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040284 - Very rare217
HP:0001297HP:0001297Stroke0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiencyHP:0040284 - Very rare36
HP:0001297HP:0001297Stroke0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0001297HP:0001297Stroke0ND1 CL E G H45357455ORPHA:550MELAS
HP:0001297HP:0001297Stroke0ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0ND4 CL E G H45387459ORPHA:550MELAS
HP:0001297HP:0001297Stroke0ND5 CL E G H45407461ORPHA:550MELAS
HP:0001297HP:0001297Stroke0ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0ND6 CL E G H45417462ORPHA:550MELAS
HP:0001297HP:0001297Stroke0ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001297HP:0001297Stroke0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0001297HP:0001297Stroke0NKX2-5 CL E G H14822488ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare90
HP:0001297HP:0001297Stroke0NOS3 CL E G H48467876OMIM:601367STROKE, ISCHEMIC8
HP:0001297HP:0001297Stroke0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy.144
HP:0001297HP:0001297Stroke0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040282 - Frequent144
HP:0001297HP:0001297Stroke0NPPA CL E G H48787939ORPHA:1344Atrial standstill13
HP:0001297HP:0001297Stroke0NPPA CL E G H48787939OMIM:615745Atrial standstill 213
HP:0001297HP:0001297Stroke0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0001297HP:0001297Stroke0NR3C1 CL E G H29087978ORPHA:786Generalized glucocorticoid resistance syndromeHP:0040284 - Very rare79
HP:0001297HP:0001297Stroke0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due toHP:0040283 - Occasional369
HP:0001297HP:0001297Stroke0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040283 - Occasional531
HP:0001297HP:0001297Stroke0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0001297HP:0001297Stroke0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0001297HP:0001297Stroke0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0001297HP:0001297Stroke0PLIN1 CL E G H53469076OMIM:613877Lipodystrophy, familial partial, type 419
HP:0001297HP:0001297Stroke0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0001297HP:0001297Stroke0PNP CL E G H48607892ORPHA:760Purine nucleoside phosphorylase deficiencyHP:0040284 - Very rare52
HP:0001297HP:0001297Stroke0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0001297HP:0001297Stroke0PRKCH CL E G H55839403OMIM:601367STROKE, ISCHEMIC1
HP:0001297HP:0001297Stroke0PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0001297HP:0001297Stroke0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0001297HP:0001297Stroke0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0RFT1 CL E G H9186930220ORPHA:244310RFT1-CDG92
HP:0001297HP:0001297Stroke0RNF213 CL E G H5767414539OMIM:607151MOYAMOYA DISEASE 2; MYMY214
HP:0001297HP:0001297Stroke0SCN5A CL E G H633110593OMIM:614022Atrial fibrillation, familial, 101134
HP:0001297HP:0001297Stroke0SCN5A CL E G H633110593ORPHA:1344Atrial standstill1134
HP:0001297HP:0001297Stroke0SCN5A CL E G H633110593OMIM:601154Cardiomyopathy, dilated, 1E.1134
HP:0001297HP:0001297Stroke0SH2B3 CL E G H1001929605ORPHA:3318Essential thrombocythemia4
HP:0001297HP:0001297Stroke0SLC19A2 CL E G H1056010938OMIM:249270Thiamine-Responsive megaloblastic anemia syndromeHP:0040283 - Occasional55
HP:0001297HP:0001297Stroke0SLC19A2 CL E G H1056010938ORPHA:49827Thiamine-responsive megaloblastic anemia syndromeHP:0040283 - Occasional55
HP:0001297HP:0001297Stroke0SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome178
HP:0001297HP:0001297Stroke0SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0001297HP:0001297Stroke0SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0001297HP:0001297Stroke0SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0001297HP:0001297Stroke0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasia504
HP:0001297HP:0001297Stroke0SMAD4 CL E G H40896770OMIM:175050Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome504
HP:0001297HP:0001297Stroke0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0001297HP:0001297Stroke0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0001297HP:0001297Stroke0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040283 - Occasional94
HP:0001297HP:0001297Stroke0SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0001297HP:0001297Stroke0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0001297HP:0001297Stroke0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome31
HP:0001297HP:0001297Stroke0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0001297HP:0001297Stroke0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0TBX20 CL E G H5705711598ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare20
HP:0001297HP:0001297Stroke0TET2 CL E G H5479025941ORPHA:3318Essential thrombocythemia3
HP:0001297HP:0001297Stroke0TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040283 - Occasional3
HP:0001297HP:0001297Stroke0TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0001297HP:0001297Stroke0TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0001297HP:0001297Stroke0TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0001297HP:0001297Stroke0TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0001297HP:0001297Stroke0TGFBR3 CL E G H704911774ORPHA:231160Familial cerebral saccular aneurysm1
HP:0001297HP:0001297Stroke0THPO CL E G H706611795ORPHA:71493Familial thrombocytosis23
HP:0001297HP:0001297Stroke0THSD1 CL E G H5590117754ORPHA:231160Familial cerebral saccular aneurysm2
HP:0001297HP:0001297Stroke0TLL1 CL E G H709211843ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare6
HP:0001297HP:0001297Stroke0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0TNNI3 CL E G H713711947ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040284 - Very rare180
HP:0001297HP:0001297Stroke0TNNT2 CL E G H713911949ORPHA:75249Familial isolated restrictive cardiomyopathyHP:0040284 - Very rare248
HP:0001297HP:0001297Stroke0TNXB CL E G H714811976ORPHA:230839Classical-like Ehlers-Danlos syndrome type 1HP:0040283 - Occasional134
HP:0001297HP:0001297Stroke0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0001297HP:0001297Stroke0TP53 CL E G H715711998ORPHA:3318Essential thrombocythemia911
HP:0001297HP:0001297Stroke0TPP2 CL E G H717412016ORPHA:444463Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndromeHP:0040281 - Very frequent
HP:0001297HP:0001297Stroke0TREX1 CL E G H1127712269OMIM:192315Vasculopathy, retinal, with cerebral leukodystrophy.56
HP:0001297HP:0001297Stroke0TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0TRNF CL E G H45587481ORPHA:550MELAS
HP:0001297HP:0001297Stroke0TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0TRNH CL E G H45647487ORPHA:550MELAS
HP:0001297HP:0001297Stroke0TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0001297HP:0001297Stroke0TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0001297HP:0001297Stroke0TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0001297HP:0001297Stroke0TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0001297HP:0001297Stroke0TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0TRNW CL E G H45787501ORPHA:550MELAS
HP:0001297HP:0001297Stroke0TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001297HP:0001297Stroke0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related107
HP:0001297HP:0001297Stroke0TTR CL E G H727612405ORPHA:85451ATTRV122I amyloidosis107
HP:0001297HP:0001297Stroke0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0001297HP:0001297Stroke0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0001297HP:0001297Stroke0VHL CL E G H742812687OMIM:263400Erythrocytosis, familial, 2.490
HP:0001297HP:0001297Stroke0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0001297HP:0001297Stroke0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0001297HP:0001297Stroke0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1389
HP:0001297HP:0001297Stroke0XYLT1 CL E G H6413115516OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE14
HP:0001297HP:0001297Stroke0XYLT2 CL E G H6413215517OMIM:264800PSEUDOXANTHOMA ELASTICUM; PXE5
HP:0001297HP:0001297Stroke0ZAP70 CL E G H753512858ORPHA:911Combined immunodeficiency due to ZAP70 deficiencyHP:0040283 - Occasional46
HP:0001297HP:0001297Stroke0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0001297HP:0033762Middle cerebral artery stroke1 CL E G H
HP:0001297HP:0002326Transient ischemic attack1ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare415
HP:0001297HP:0002326Transient ischemic attack1ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0001297HP:0002140Ischemic stroke1ACTA2 CL E G H59130ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional94
HP:0001297HP:0002326Transient ischemic attack1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional72
HP:0001297HP:0002326Transient ischemic attack1ACTC1 CL E G H70143ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare208
HP:0001297HP:0002326Transient ischemic attack1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040283 - Occasional123
HP:0001297HP:0002326Transient ischemic attack1ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0001297HP:0002326Transient ischemic attack1ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0001297HP:0002140Ischemic stroke1ACVRL1 CL E G H94175OMIM:600376Telangiectasia, hereditary hemorrhagic, type 2.178
HP:0001297HP:0002140Ischemic stroke1ADA2 CL E G H518161839OMIM:182410Sneddon syndrome22
HP:0001297HP:0002326Transient ischemic attack1ADAMTS13 CL E G H110931366OMIM:274150Thrombotic thrombocytopenic purpura, hereditary129
HP:0001297HP:0002401Stroke-like episode1AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0001297HP:0002326Transient ischemic attack1ANGPTL6 CL E G H8385423140ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent
HP:0001297HP:0002140Ischemic stroke1BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040282 - Frequent8
HP:0001297HP:0002326Transient ischemic attack1CALR CL E G H8111455ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent1
HP:0001297HP:0002326Transient ischemic attack1CITED2 CL E G H103701987ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare5
HP:0001297HP:0002326Transient ischemic attack1COL3A1 CL E G H12812201ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent749
HP:0001297HP:0002326Transient ischemic attack1COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0001297HP:0002140Ischemic stroke1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0001297HP:0002401Stroke-like episode1COX1 CL E G H45127419ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1COX1 CL E G H45127419OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1COX2 CL E G H45137421ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1COX2 CL E G H45137421OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1COX3 CL E G H45147422ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1COX3 CL E G H45147422OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1CYTB CL E G H45197427ORPHA:137675Histiocytoid cardiomyopathyHP:0040283 - Occasional
HP:0001297HP:0002401Stroke-like episode1CYTB CL E G H45197427OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0001297HP:0002401Stroke-like episode1DPM3 CL E G H543443007ORPHA:263494DPM3-CDGHP:0040282 - Frequent9
HP:0001297HP:0002140Ischemic stroke1ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0001297HP:0002326Transient ischemic attack1ELN CL E G H20063327ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional172
HP:0001297HP:0002326Transient ischemic attack1ENG CL E G H20223349ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent186
HP:0001297HP:0002326Transient ischemic attack1ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0001297HP:0002326Transient ischemic attack1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0001297HP:0002140Ischemic stroke1ENG CL E G H20223349OMIM:187300Telangiectasia, hereditary hemorrhagic, type 1.186
HP:0001297HP:0002326Transient ischemic attack1ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare151
HP:0001297HP:0002140Ischemic stroke1FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0001297HP:0002326Transient ischemic attack1FBN1 CL E G H22003603ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional1361
HP:0001297HP:0002326Transient ischemic attack1FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0001297HP:0002140Ischemic stroke1FOXE3 CL E G H23013808ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional23
HP:0001297HP:0002326Transient ischemic attack1GATA4 CL E G H26264173ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare87
HP:0001297HP:0002326Transient ischemic attack1GATA6 CL E G H26274174ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare37
HP:0001297HP:0002326Transient ischemic attack1GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0001297HP:0002326Transient ischemic attack1GLA CL E G H27174296ORPHA:324Fabry diseaseHP:0040281 - Very frequent291
HP:0001297HP:0002326Transient ischemic attack1GLA CL E G H27174296OMIM:301500Fabry disease.291
HP:0001297HP:0002140Ischemic stroke1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001297HP:0002140Ischemic stroke1GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasiaHP:0040283 - Occasional
HP:0001297HP:0002326Transient ischemic attack1HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0001297HP:0002140Ischemic stroke1HEY2 CL E G H234934881ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional
HP:0001297HP:0002326Transient ischemic attack1HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)34
HP:0001297HP:0002140Ischemic stroke1HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)34
HP:0001297HP:0002326Transient ischemic attack1HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2.34
HP:0001297HP:0002140Ischemic stroke1HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 234
HP:0001297HP:0002401Stroke-like episode1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0001297HP:0002326Transient ischemic attack1JAK2 CL E G H37176192ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent57
HP:0001297HP:0002326Transient ischemic attack1JAK2 CL E G H37176192ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent57
HP:0001297HP:0002140Ischemic stroke1JAK2 CL E G H37176192OMIM:614521Thrombocythemia 357
HP:0001297HP:0002326Transient ischemic attack1KRAS CL E G H38456407OMIM:600268Oculoectodermal syndrome.196
HP:0001297HP:0002401Stroke-like episode1LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0001297HP:0002326Transient ischemic attack1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional645
HP:0001297HP:0002326Transient ischemic attack1LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0001297HP:0002140Ischemic stroke1LOX CL E G H40156664ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional6
HP:0001297HP:0002401Stroke-like episode1LRPPRC CL E G H1012815714ORPHA:70472Congenital lactic acidosis, Saguenay-Lac-Saint-Jean typeHP:0040281 - Very frequent191
HP:0001297HP:0002140Ischemic stroke1MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0001297HP:0002326Transient ischemic attack1MAT2A CL E G H41446904ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional13
HP:0001297HP:0002326Transient ischemic attack1MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0001297HP:0002140Ischemic stroke1MFAP5 CL E G H807629673ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional11
HP:0001297HP:0002326Transient ischemic attack1MPL CL E G H43527217ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent97
HP:0001297HP:0002326Transient ischemic attack1MPL CL E G H43527217ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent97
HP:0001297HP:0002326Transient ischemic attack1MYBPC3 CL E G H46077551OMIM:115197Cardiomyopathy, familial hypertrophic, 4.1143
HP:0001297HP:0002140Ischemic stroke1MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0001297HP:0002326Transient ischemic attack1MYH11 CL E G H46297569ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional418
HP:0001297HP:0002326Transient ischemic attack1MYH6 CL E G H46247576ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare452
HP:0001297HP:0002140Ischemic stroke1MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0001297HP:0002326Transient ischemic attack1MYLK CL E G H46387590ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional326
HP:0001297HP:0002401Stroke-like episode1ND1 CL E G H45357455ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1ND1 CL E G H45357455OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1ND4 CL E G H45387459ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1ND5 CL E G H45407461ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1ND5 CL E G H45407461OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1ND6 CL E G H45417462ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1ND6 CL E G H45417462OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001297HP:0002326Transient ischemic attack1NKX2-5 CL E G H14822488ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare90
HP:0001297HP:0002140Ischemic stroke1NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0001297HP:0002140Ischemic stroke1NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040283 - Occasional144
HP:0001297HP:0002326Transient ischemic attack1NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040282 - Frequent144
HP:0001297HP:0002140Ischemic stroke1NPPA CL E G H48787939ORPHA:1344Atrial standstillHP:0040283 - Occasional13
HP:0001297HP:0002140Ischemic stroke1PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0001297HP:0002401Stroke-like episode1PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0001297HP:0002140Ischemic stroke1PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0001297HP:0002326Transient ischemic attack1PRKG1 CL E G H55929414ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional41
HP:0001297HP:0002401Stroke-like episode1PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0001297HP:0002401Stroke-like episode1RFT1 CL E G H9186930220ORPHA:244310RFT1-CDGHP:0040283 - Occasional92
HP:0001297HP:0002326Transient ischemic attack1RNF213 CL E G H5767414539OMIM:607151MOYAMOYA DISEASE 2; MYMY214
HP:0001297HP:0002140Ischemic stroke1SCN5A CL E G H633110593ORPHA:1344Atrial standstillHP:0040283 - Occasional1134
HP:0001297HP:0002326Transient ischemic attack1SH2B3 CL E G H1001929605ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent4
HP:0001297HP:0002140Ischemic stroke1SLC2A10 CL E G H8103113444OMIM:208050Arterial tortuosity syndrome.178
HP:0001297HP:0002326Transient ischemic attack1SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0001297HP:0002140Ischemic stroke1SMAD2 CL E G H40876768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional7
HP:0001297HP:0002326Transient ischemic attack1SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0001297HP:0002140Ischemic stroke1SMAD3 CL E G H40886769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional260
HP:0001297HP:0002140Ischemic stroke1SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0001297HP:0002326Transient ischemic attack1SMAD4 CL E G H40896770ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional504
HP:0001297HP:0002326Transient ischemic attack1SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0001297HP:0002326Transient ischemic attack1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0001297HP:0002140Ischemic stroke1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0001297HP:0002326Transient ischemic attack1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040283 - Occasional74
HP:0001297HP:0002140Ischemic stroke1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0001297HP:0002326Transient ischemic attack1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0001297HP:0002401Stroke-like episode1STIM1 CL E G H678611386OMIM:185070Stormorken syndromeHP:0040283 - Occasional31
HP:0001297HP:0002326Transient ischemic attack1TBX20 CL E G H5705711598ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare20
HP:0001297HP:0002326Transient ischemic attack1TET2 CL E G H5479025941ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent3
HP:0001297HP:0002326Transient ischemic attack1TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0001297HP:0002140Ischemic stroke1TGFB2 CL E G H704211768ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional162
HP:0001297HP:0002326Transient ischemic attack1TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0001297HP:0002140Ischemic stroke1TGFB3 CL E G H704311769ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional85
HP:0001297HP:0002326Transient ischemic attack1TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0001297HP:0002140Ischemic stroke1TGFBR1 CL E G H704611772ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional239
HP:0001297HP:0002140Ischemic stroke1TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0001297HP:0002326Transient ischemic attack1TGFBR2 CL E G H704811773ORPHA:91387Familial thoracic aortic aneurysm and aortic dissectionHP:0040283 - Occasional253
HP:0001297HP:0002326Transient ischemic attack1TGFBR3 CL E G H704911774ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent1
HP:0001297HP:0002326Transient ischemic attack1THPO CL E G H706611795ORPHA:71493Familial thrombocytosisHP:0040282 - Frequent23
HP:0001297HP:0002326Transient ischemic attack1THSD1 CL E G H5590117754ORPHA:231160Familial cerebral saccular aneurysmHP:0040282 - Frequent2
HP:0001297HP:0002326Transient ischemic attack1TLL1 CL E G H709211843ORPHA:99103Atrial septal defect, ostium secundum typeHP:0040284 - Very rare6
HP:0001297HP:0002326Transient ischemic attack1TP53 CL E G H715711998ORPHA:3318Essential thrombocythemiaHP:0040281 - Very frequent911
HP:0001297HP:0002401Stroke-like episode1TRNC CL E G H45117477OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1TRNF CL E G H45587481ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1TRNF CL E G H45587481OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1TRNH CL E G H45647487ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1TRNK CL E G H45667489OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1TRNL1 CL E G H45677490OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1TRNQ CL E G H45727495ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1TRNQ CL E G H45727495OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1TRNS1 CL E G H45747497OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1TRNS2 CL E G H45757498OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1TRNV CL E G H45777500OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1TRNW CL E G H45787501ORPHA:550MELASHP:0040281 - Very frequent
HP:0001297HP:0002401Stroke-like episode1TRNW CL E G H45787501OMIM:540000Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
HP:0001297HP:0002401Stroke-like episode1TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0001297HP:0002401Stroke-like episode1WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0001297HP:0002326Transient ischemic attack1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040283 - Occasional83
HP:0001297HP:0032325Lacunar stroke2HTRA1 CL E G H56549476OMIM:600142Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)34
HP:0001297HP:0032325Lacunar stroke2HTRA1 CL E G H56549476OMIM:616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 234
HP:0001297HP:0032325Lacunar stroke2NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0001297HP:0032325Lacunar stroke2NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathyHP:0040281 - Very frequent144
HP:0001297HP:0032325Lacunar stroke2PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0001297HP:0032570Pontine ischemic lacunes3 CL E G H


Genes (174) :ABCC6 ACAD9 ACTA2 ACTB ACTC1 ACTG1 ACVRL1 ADA2 ADAMTS13 AGXT ALOX5AP AMACR ANGPTL6 APP ASS1 ATRX B3GALT6 BAZ1B BCL7B BRAF BRCC3 BUD23 CALR CBS CCM2 CCND1 CDH23 CITED2 CLIP2 COL3A1 COL4A1 COX1 COX2 COX3 CPS1 CST3 CYTB DNAJC30 DPAGT1 DPM3 DYRK1B EIF4H ELN ENG ENPP1 ERCC6 ERCC8 F2 F5 FBN1 FHOD3 FKBP6 FLNA FLNC FOXE3 GATA4 GATA6 GDF2 GLA GNAQ GNB2 GTF2I GTF2IRD1 GTF2IRD2 GUCY1A1 GYS1 HBB HEY2 HSD11B2 HTRA1 JAG1 JAK2 KIF20A KRAS LIG3 LIMK1 LMNA LOX LRPPRC MAT2A MECP2 METTL27 MFAP5 MLXIPL MMACHC MMUT MPL MTHFR MYBPC3 MYD88 MYH11 MYH6 MYLK MYPN NAGS NCF1 ND1 ND4 ND5 ND6 NDUFA8 NF1 NKX2-5 NOS3 NOTCH3 NPPA NR3C1 OTC PCNT PDE11A PIGA PIK3C2A PLIN1 PMM2 PNP PRKAR1A PRKCH PRKG1 PRNP RFC2 RFT1 RNF213 SCN5A SH2B3 SLC19A2 SLC2A10 SMAD2 SMAD3 SMAD4 SMARCAL1 SNAP29 SNORD118 SON STIM1 STX1A TANGO2 TBL2 TBX20 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THPO THSD1 TLL1 TMEM270 TNNI3 TNNT2 TNXB TP53 TPP2 TREX1 TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TTR USP48 USP8 VHL VPS37D WFS1 XYLT1 XYLT2 ZAP70 ZMPSTE24

Diseases (119) :ORPHA:51608 OMIM:264800 OMIM:611126 ORPHA:91387 ORPHA:2995 ORPHA:99103 ORPHA:774 OMIM:600376 OMIM:182410 OMIM:615688 OMIM:274150 ORPHA:93598 OMIM:601367 ORPHA:79095 ORPHA:231160 ORPHA:100006 ORPHA:324708 ORPHA:324713 ORPHA:324703 OMIM:605714 OMIM:215700 ORPHA:96253 ORPHA:536467 ORPHA:904 ORPHA:280679 ORPHA:3318 OMIM:236200 OMIM:603284 ORPHA:892 ORPHA:99105 ORPHA:286 OMIM:611773 OMIM:175780 ORPHA:550 OMIM:540000 OMIM:237300 ORPHA:100008 OMIM:105150 ORPHA:137675 ORPHA:86309 ORPHA:263494 OMIM:615812 OMIM:194050 OMIM:187300 ORPHA:90324 OMIM:619402 OMIM:300049 OMIM:617047 ORPHA:75249 OMIM:301500 ORPHA:324 ORPHA:3205 OMIM:619503 OMIM:615750 ORPHA:401945 OMIM:611556 OMIM:603903 ORPHA:320 OMIM:600142 OMIM:616779 ORPHA:199354 OMIM:118450 ORPHA:71493 ORPHA:729 OMIM:614521 OMIM:600268 OMIM:619780 ORPHA:740 ORPHA:70472 ORPHA:3077 ORPHA:79282 ORPHA:79312 OMIM:236250 ORPHA:395 OMIM:115197 ORPHA:33226 OMIM:132900 ORPHA:229 ORPHA:927 OMIM:619272 ORPHA:97685 OMIM:125310 ORPHA:136 ORPHA:1344 OMIM:615745 ORPHA:786 OMIM:311250 ORPHA:2637 ORPHA:1359 ORPHA:447 ORPHA:557003 OMIM:618440 OMIM:613877 OMIM:212065 ORPHA:760 ORPHA:282166 ORPHA:244310 OMIM:607151 OMIM:614022 OMIM:601154 OMIM:249270 ORPHA:49827 OMIM:208050 OMIM:175050 OMIM:242900 ORPHA:1830 ORPHA:66631 ORPHA:542310 ORPHA:500150 OMIM:185070 ORPHA:480864 ORPHA:230839 ORPHA:444463 OMIM:192315 OMIM:105210 ORPHA:85451 OMIM:263400 OMIM:222300 ORPHA:911
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.