Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of brain morphology (HP:0012443)

Grandparent Node:
Abnormality of the vasculature (HP:0002597)

Parent Node:
Abnormal cerebral vascular morphology (HP:0100659)

..Starting node
..Stroke (HP:0001297)

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:

........

Ischemic stroke (HP:0002140)

........

Transient ischemic attack (HP:0002326)

........

Stroke-like episode (HP:0002401)

Sister Nodes:

Abnormal cerebral artery morphology (HP:0009145)

Abnormal cerebral vein morphology (HP:0012480)

Cerebral arteriovenous malformation (HP:0002408)

Cerebral vasculitis (HP:0005318)

Dilation of Virchow-Robin spaces (HP:0012520)

Intracranial hemorrhage (HP:0002170)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001297	HP:0001297	Stroke	0	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1	1666	57	603234
HP:0001297	HP:0001297	Stroke	0	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001297	HP:0001297	Stroke	0	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	533	1839	607575
HP:0001297	HP:0001297	Stroke	0	APP CL E G H	351	324708				ORPHA	1	506	620	104760
HP:0001297	HP:0001297	Stroke	0	APP CL E G H	351	324713				ORPHA	1	506	620	104760
HP:0001297	HP:0001297	Stroke	0	APP CL E G H	351	324703				ORPHA	1	506	620	104760
HP:0001297	HP:0001297	Stroke	0	APP CL E G H	351	100006				ORPHA	1	506	620	104760
HP:0001297	HP:0001297	Stroke	0	APP CL E G H	351	605714	Cerebral amyloid angiopathy, APP-related	605714	C2751536	OMIM	1	506	620	104760
HP:0001297	HP:0001297	Stroke	0	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	249	961	605681
HP:0001297	HP:0001297	Stroke	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	1120	1550	613381
HP:0001297	HP:0001297	Stroke	0	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	310	21708	607929
HP:0001297	HP:0001297	Stroke	0	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	229	2586	603432
HP:0001297	HP:0001297	Stroke	0	CST3 CL E G H	1471	100008				ORPHA	1	54	2475	604312
HP:0001297	HP:0001297	Stroke	0	CST3 CL E G H	1471	105150	Hereditary cerebral amyloid angiopathy, Icelandic type	105150	C1527338	OMIM	1	54	2475	604312
HP:0001297	HP:0001297	Stroke	0	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	966	3327	130160
HP:0001297	HP:0001297	Stroke	0	FLNA CL E G H	2316	300049	Periventricular nodular heterotopia 1	300049	C1848213	OMIM	1	3033	3754	300017
HP:0001297	HP:0001297	Stroke	0	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	1	91	4390	600998
HP:0001297	HP:0001297	Stroke	0	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	178	4659	601679
HP:0001297	HP:0001297	Stroke	0	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	266	4661	604318
HP:0001297	HP:0001297	Stroke	0	GUCY1A1 CL E G H	2982	401945				ORPHA	1	102	4685	139396
HP:0001297	HP:0001297	Stroke	0	GYS1 CL E G H	2997	611556	Glycogen storage disease 0, muscle	611556	C1969054	OMIM	1	607	4706	138570
HP:0001297	HP:0001297	Stroke	0	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1600	4827	141900
HP:0001297	HP:0001297	Stroke	0	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	285	9476	602194
HP:0001297	HP:0001297	Stroke	0	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0001297	HP:0001297	Stroke	0	KCNQ1 CL E G H	3784	607554	Atrial fibrillation, familial, 3	607554	C1837014	OMIM	1	2200	6294	607542
HP:0001297	HP:0001297	Stroke	0	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	232	6613	601329
HP:0001297	HP:0001297	Stroke	0	MTHFR CL E G H	4524	236250	Homocysteinemia due to MTHFR deficiency	236250	C1856058	OMIM	1	724	7436	607093
HP:0001297	HP:0001297	Stroke	0	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1343	7883	600276
HP:0001297	HP:0001297	Stroke	0	NPPA CL E G H	4878	615745	Atrial standstill 2	615745	C3810401	OMIM	1	182	7939	108780
HP:0001297	HP:0001297	Stroke	0	PRKAG2 CL E G H	51422	194200	Wolff-Parkinson-White pattern	194200	C0043202	OMIM	1	1079	9386	602743
HP:0001297	HP:0001297	Stroke	0	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	200	9970	600404
HP:0001297	HP:0001297	Stroke	0	SCN5A CL E G H	6331	601154	Dilated cardiomyopathy 1E	601154	C1832680	OMIM	1	3531	10593	600163
HP:0001297	HP:0001297	Stroke	0	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	194	11586	605842
HP:0001297	HP:0001297	Stroke	0	TPP2 CL E G H	7174	444463				ORPHA	1	625	12016	190470
HP:0001297	HP:0001297	Stroke	0	TREX1 CL E G H	11277	247691				ORPHA	1	418	12269	606609
HP:0001297	HP:0001297	Stroke	0	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	418	12269	606609
HP:0001297	HP:0001297	Stroke	0	VHL CL E G H	7428	263400	Erythrocytosis, familial, 2	263400	C1837915	OMIM	1	1805	12687	608537
HP:0001297	HP:0002401	Stroke-like episode	1	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1	1666	57	603234
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1	1666	57	603234
HP:0001297	HP:0002140	Ischemic stroke	1	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1	1666	57	603234
HP:0001297	HP:0002326	Transient ischemic attack	1	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1	1666	57	603234
HP:0001297	HP:0002401	Stroke-like episode	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001297	HP:0002140	Ischemic stroke	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001297	HP:0002326	Transient ischemic attack	1	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001297	HP:0002401	Stroke-like episode	1	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	533	1839	607575
HP:0001297	HP:0002140	Ischemic stroke	1	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	533	1839	607575
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	533	1839	607575
HP:0001297	HP:0002326	Transient ischemic attack	1	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	533	1839	607575
HP:0001297	HP:0002401	Stroke-like episode	1	APP CL E G H	351	324703				ORPHA	1	506	620	104760
HP:0001297	HP:0002401	Stroke-like episode	1	APP CL E G H	351	100006				ORPHA	1	506	620	104760
HP:0001297	HP:0002326	Transient ischemic attack	1	APP CL E G H	351	324713				ORPHA	1	506	620	104760
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	APP CL E G H	351	324703				ORPHA	1	506	620	104760
HP:0001297	HP:0002140	Ischemic stroke	1	APP CL E G H	351	100006				ORPHA	1	506	620	104760
HP:0001297	HP:0002401	Stroke-like episode	1	APP CL E G H	351	324708				ORPHA	1	506	620	104760
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	APP CL E G H	351	100006				ORPHA	1	506	620	104760
HP:0001297	HP:0002140	Ischemic stroke	1	APP CL E G H	351	324703				ORPHA	1	506	620	104760
HP:0001297	HP:0002326	Transient ischemic attack	1	APP CL E G H	351	324703				ORPHA	1	506	620	104760
HP:0001297	HP:0002140	Ischemic stroke	1	APP CL E G H	351	324708				ORPHA	1	506	620	104760
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	APP CL E G H	351	324708				ORPHA	1	506	620	104760
HP:0001297	HP:0002326	Transient ischemic attack	1	APP CL E G H	351	100006				ORPHA	1	506	620	104760
HP:0001297	HP:0002401	Stroke-like episode	1	APP CL E G H	351	324713				ORPHA	1	506	620	104760
HP:0001297	HP:0002326	Transient ischemic attack	1	APP CL E G H	351	324708				ORPHA	1	506	620	104760
HP:0001297	HP:0002140	Ischemic stroke	1	APP CL E G H	351	324713				ORPHA	1	506	620	104760
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	APP CL E G H	351	324713				ORPHA	1	506	620	104760
HP:0001297	HP:0002140	Ischemic stroke	1	APP CL E G H	351	605714	Cerebral amyloid angiopathy, APP-related	605714	C2751536	OMIM	1	506	620	104760
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	APP CL E G H	351	605714	Cerebral amyloid angiopathy, APP-related	605714	C2751536	OMIM	1	506	620	104760
HP:0001297	HP:0002326	Transient ischemic attack	1	APP CL E G H	351	605714	Cerebral amyloid angiopathy, APP-related	605714	C2751536	OMIM	1	506	620	104760
HP:0001297	HP:0002401	Stroke-like episode	1	APP CL E G H	351	605714	Cerebral amyloid angiopathy, APP-related	605714	C2751536	OMIM	1	506	620	104760
HP:0001297	HP:0002401	Stroke-like episode	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	249	961	605681
HP:0001297	HP:0002140	Ischemic stroke	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	249	961	605681
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	249	961	605681
HP:0001297	HP:0002326	Transient ischemic attack	1	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	249	961	605681
HP:0001297	HP:0002140	Ischemic stroke	1	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	1120	1550	613381
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	1120	1550	613381
HP:0001297	HP:0002326	Transient ischemic attack	1	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	1120	1550	613381
HP:0001297	HP:0002401	Stroke-like episode	1	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	1120	1550	613381
HP:0001297	HP:0002401	Stroke-like episode	1	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	310	21708	607929
HP:0001297	HP:0002140	Ischemic stroke	1	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	310	21708	607929
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	310	21708	607929
HP:0001297	HP:0002326	Transient ischemic attack	1	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	310	21708	607929
HP:0001297	HP:0002401	Stroke-like episode	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	229	2586	603432
HP:0001297	HP:0002140	Ischemic stroke	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	229	2586	603432
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	229	2586	603432
HP:0001297	HP:0002326	Transient ischemic attack	1	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	229	2586	603432
HP:0001297	HP:0002401	Stroke-like episode	1	CST3 CL E G H	1471	100008				ORPHA	1	54	2475	604312
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	CST3 CL E G H	1471	100008				ORPHA	1	54	2475	604312
HP:0001297	HP:0002140	Ischemic stroke	1	CST3 CL E G H	1471	100008				ORPHA	1	54	2475	604312
HP:0001297	HP:0002326	Transient ischemic attack	1	CST3 CL E G H	1471	100008				ORPHA	1	54	2475	604312
HP:0001297	HP:0002401	Stroke-like episode	1	CST3 CL E G H	1471	105150	Hereditary cerebral amyloid angiopathy, Icelandic type	105150	C1527338	OMIM	1	54	2475	604312
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	CST3 CL E G H	1471	105150	Hereditary cerebral amyloid angiopathy, Icelandic type	105150	C1527338	OMIM	1	54	2475	604312
HP:0001297	HP:0002140	Ischemic stroke	1	CST3 CL E G H	1471	105150	Hereditary cerebral amyloid angiopathy, Icelandic type	105150	C1527338	OMIM	1	54	2475	604312
HP:0001297	HP:0002326	Transient ischemic attack	1	CST3 CL E G H	1471	105150	Hereditary cerebral amyloid angiopathy, Icelandic type	105150	C1527338	OMIM	1	54	2475	604312
HP:0001297	HP:0002326	Transient ischemic attack	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	966	3327	130160
HP:0001297	HP:0002401	Stroke-like episode	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	966	3327	130160
HP:0001297	HP:0002140	Ischemic stroke	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	966	3327	130160
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	966	3327	130160
HP:0001297	HP:0002401	Stroke-like episode	1	FLNA CL E G H	2316	300049	Periventricular nodular heterotopia 1	300049	C1848213	OMIM	1	3033	3754	300017
HP:0001297	HP:0002140	Ischemic stroke	1	FLNA CL E G H	2316	300049	Periventricular nodular heterotopia 1	300049	C1848213	OMIM	1	3033	3754	300017
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	FLNA CL E G H	2316	300049	Periventricular nodular heterotopia 1	300049	C1848213	OMIM	1	3033	3754	300017
HP:0001297	HP:0002326	Transient ischemic attack	1	FLNA CL E G H	2316	300049	Periventricular nodular heterotopia 1	300049	C1848213	OMIM	1	3033	3754	300017
HP:0001297	HP:0002401	Stroke-like episode	1	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	1	91	4390	600998
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	1	91	4390	600998
HP:0001297	HP:0002140	Ischemic stroke	1	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	1	91	4390	600998
HP:0001297	HP:0002326	Transient ischemic attack	1	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	1	91	4390	600998
HP:0001297	HP:0002140	Ischemic stroke	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	178	4659	601679
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	178	4659	601679
HP:0001297	HP:0002326	Transient ischemic attack	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	178	4659	601679
HP:0001297	HP:0002401	Stroke-like episode	1	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	178	4659	601679
HP:0001297	HP:0002401	Stroke-like episode	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	266	4661	604318
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	266	4661	604318
HP:0001297	HP:0002140	Ischemic stroke	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	266	4661	604318
HP:0001297	HP:0002326	Transient ischemic attack	1	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	266	4661	604318
HP:0001297	HP:0002140	Ischemic stroke	1	GUCY1A1 CL E G H	2982	401945				ORPHA	1	102	4685	139396
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	GUCY1A1 CL E G H	2982	401945				ORPHA	1	102	4685	139396
HP:0001297	HP:0002326	Transient ischemic attack	1	GUCY1A1 CL E G H	2982	401945				ORPHA	1	102	4685	139396
HP:0001297	HP:0002401	Stroke-like episode	1	GUCY1A1 CL E G H	2982	401945				ORPHA	1	102	4685	139396
HP:0001297	HP:0002326	Transient ischemic attack	1	GYS1 CL E G H	2997	611556	Glycogen storage disease 0, muscle	611556	C1969054	OMIM	1	607	4706	138570
HP:0001297	HP:0002401	Stroke-like episode	1	GYS1 CL E G H	2997	611556	Glycogen storage disease 0, muscle	611556	C1969054	OMIM	1	607	4706	138570
HP:0001297	HP:0002140	Ischemic stroke	1	GYS1 CL E G H	2997	611556	Glycogen storage disease 0, muscle	611556	C1969054	OMIM	1	607	4706	138570
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	GYS1 CL E G H	2997	611556	Glycogen storage disease 0, muscle	611556	C1969054	OMIM	1	607	4706	138570
HP:0001297	HP:0002326	Transient ischemic attack	1	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1600	4827	141900
HP:0001297	HP:0002401	Stroke-like episode	1	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1600	4827	141900
HP:0001297	HP:0002140	Ischemic stroke	1	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1600	4827	141900
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1600	4827	141900
HP:0001297	HP:0002140	Ischemic stroke	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	285	9476	602194
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	285	9476	602194
HP:0001297	HP:0002326	Transient ischemic attack	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	285	9476	602194
HP:0001297	HP:0002401	Stroke-like episode	1	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	285	9476	602194
HP:0001297	HP:0002401	Stroke-like episode	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0001297	HP:0002140	Ischemic stroke	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0001297	HP:0002326	Transient ischemic attack	1	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0001297	HP:0002401	Stroke-like episode	1	KCNQ1 CL E G H	3784	607554	Atrial fibrillation, familial, 3	607554	C1837014	OMIM	1	2200	6294	607542
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	KCNQ1 CL E G H	3784	607554	Atrial fibrillation, familial, 3	607554	C1837014	OMIM	1	2200	6294	607542
HP:0001297	HP:0002140	Ischemic stroke	1	KCNQ1 CL E G H	3784	607554	Atrial fibrillation, familial, 3	607554	C1837014	OMIM	1	2200	6294	607542
HP:0001297	HP:0002326	Transient ischemic attack	1	KCNQ1 CL E G H	3784	607554	Atrial fibrillation, familial, 3	607554	C1837014	OMIM	1	2200	6294	607542
HP:0001297	HP:0002401	Stroke-like episode	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	232	6613	601329
HP:0001297	HP:0002140	Ischemic stroke	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	232	6613	601329
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	232	6613	601329
HP:0001297	HP:0002326	Transient ischemic attack	1	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	232	6613	601329
HP:0001297	HP:0002401	Stroke-like episode	1	MTHFR CL E G H	4524	236250	Homocysteinemia due to MTHFR deficiency	236250	C1856058	OMIM	1	724	7436	607093
HP:0001297	HP:0002140	Ischemic stroke	1	MTHFR CL E G H	4524	236250	Homocysteinemia due to MTHFR deficiency	236250	C1856058	OMIM	1	724	7436	607093
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	MTHFR CL E G H	4524	236250	Homocysteinemia due to MTHFR deficiency	236250	C1856058	OMIM	1	724	7436	607093
HP:0001297	HP:0002326	Transient ischemic attack	1	MTHFR CL E G H	4524	236250	Homocysteinemia due to MTHFR deficiency	236250	C1856058	OMIM	1	724	7436	607093
HP:0001297	HP:0002326	Transient ischemic attack	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1343	7883	600276
HP:0001297	HP:0002401	Stroke-like episode	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1343	7883	600276
HP:0001297	HP:0002140	Ischemic stroke	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1343	7883	600276
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1343	7883	600276
HP:0001297	HP:0002401	Stroke-like episode	1	NPPA CL E G H	4878	615745	Atrial standstill 2	615745	C3810401	OMIM	1	182	7939	108780
HP:0001297	HP:0002140	Ischemic stroke	1	NPPA CL E G H	4878	615745	Atrial standstill 2	615745	C3810401	OMIM	1	182	7939	108780
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	NPPA CL E G H	4878	615745	Atrial standstill 2	615745	C3810401	OMIM	1	182	7939	108780
HP:0001297	HP:0002326	Transient ischemic attack	1	NPPA CL E G H	4878	615745	Atrial standstill 2	615745	C3810401	OMIM	1	182	7939	108780
HP:0001297	HP:0002401	Stroke-like episode	1	PRKAG2 CL E G H	51422	194200	Wolff-Parkinson-White pattern	194200	C0043202	OMIM	1	1079	9386	602743
HP:0001297	HP:0002140	Ischemic stroke	1	PRKAG2 CL E G H	51422	194200	Wolff-Parkinson-White pattern	194200	C0043202	OMIM	1	1079	9386	602743
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	PRKAG2 CL E G H	51422	194200	Wolff-Parkinson-White pattern	194200	C0043202	OMIM	1	1079	9386	602743
HP:0001297	HP:0002326	Transient ischemic attack	1	PRKAG2 CL E G H	51422	194200	Wolff-Parkinson-White pattern	194200	C0043202	OMIM	1	1079	9386	602743
HP:0001297	HP:0002326	Transient ischemic attack	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	200	9970	600404
HP:0001297	HP:0002401	Stroke-like episode	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	200	9970	600404
HP:0001297	HP:0002140	Ischemic stroke	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	200	9970	600404
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	200	9970	600404
HP:0001297	HP:0002401	Stroke-like episode	1	SCN5A CL E G H	6331	601154	Dilated cardiomyopathy 1E	601154	C1832680	OMIM	1	3531	10593	600163
HP:0001297	HP:0002140	Ischemic stroke	1	SCN5A CL E G H	6331	601154	Dilated cardiomyopathy 1E	601154	C1832680	OMIM	1	3531	10593	600163
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	SCN5A CL E G H	6331	601154	Dilated cardiomyopathy 1E	601154	C1832680	OMIM	1	3531	10593	600163
HP:0001297	HP:0002326	Transient ischemic attack	1	SCN5A CL E G H	6331	601154	Dilated cardiomyopathy 1E	601154	C1832680	OMIM	1	3531	10593	600163
HP:0001297	HP:0002140	Ischemic stroke	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	194	11586	605842
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	194	11586	605842
HP:0001297	HP:0002326	Transient ischemic attack	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	194	11586	605842
HP:0001297	HP:0002401	Stroke-like episode	1	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	194	11586	605842
HP:0001297	HP:0002401	Stroke-like episode	1	TPP2 CL E G H	7174	444463				ORPHA	1	625	12016	190470
HP:0001297	HP:0002140	Ischemic stroke	1	TPP2 CL E G H	7174	444463				ORPHA	1	625	12016	190470
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	TPP2 CL E G H	7174	444463				ORPHA	1	625	12016	190470
HP:0001297	HP:0002326	Transient ischemic attack	1	TPP2 CL E G H	7174	444463				ORPHA	1	625	12016	190470
HP:0001297	HP:0002140	Ischemic stroke	1	TREX1 CL E G H	11277	247691				ORPHA	1	418	12269	606609
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	TREX1 CL E G H	11277	247691				ORPHA	1	418	12269	606609
HP:0001297	HP:0002326	Transient ischemic attack	1	TREX1 CL E G H	11277	247691				ORPHA	1	418	12269	606609
HP:0001297	HP:0002401	Stroke-like episode	1	TREX1 CL E G H	11277	247691				ORPHA	1	418	12269	606609
HP:0001297	HP:0002326	Transient ischemic attack	1	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	418	12269	606609
HP:0001297	HP:0002401	Stroke-like episode	1	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	418	12269	606609
HP:0001297	HP:0002140	Ischemic stroke	1	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	418	12269	606609
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	418	12269	606609
HP:0001297	HP:0002140	Ischemic stroke	1	VHL CL E G H	7428	263400	Erythrocytosis, familial, 2	263400	C1837915	OMIM	1	1805	12687	608537
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	VHL CL E G H	7428	263400	Erythrocytosis, familial, 2	263400	C1837915	OMIM	1	1805	12687	608537
HP:0001297	HP:0002326	Transient ischemic attack	1	VHL CL E G H	7428	263400	Erythrocytosis, familial, 2	263400	C1837915	OMIM	1	1805	12687	608537
HP:0001297	HP:0002401	Stroke-like episode	1	VHL CL E G H	7428	263400	Erythrocytosis, familial, 2	263400	C1837915	OMIM	1	1805	12687	608537
HP:0001297	HP:0032325	Lacunar stroke	2	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1	1666	57	603234
HP:0001297	HP:0032325	Lacunar stroke	2	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001297	HP:0032325	Lacunar stroke	2	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	533	1839	607575
HP:0001297	HP:0032325	Lacunar stroke	2	APP CL E G H	351	100006				ORPHA	1	506	620	104760
HP:0001297	HP:0032325	Lacunar stroke	2	APP CL E G H	351	324703				ORPHA	1	506	620	104760
HP:0001297	HP:0032325	Lacunar stroke	2	APP CL E G H	351	324708				ORPHA	1	506	620	104760
HP:0001297	HP:0032325	Lacunar stroke	2	APP CL E G H	351	324713				ORPHA	1	506	620	104760
HP:0001297	HP:0032325	Lacunar stroke	2	APP CL E G H	351	605714	Cerebral amyloid angiopathy, APP-related	605714	C2751536	OMIM	1	506	620	104760
HP:0001297	HP:0032325	Lacunar stroke	2	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	249	961	605681
HP:0001297	HP:0032325	Lacunar stroke	2	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	1120	1550	613381
HP:0001297	HP:0032325	Lacunar stroke	2	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	310	21708	607929
HP:0001297	HP:0032325	Lacunar stroke	2	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	229	2586	603432
HP:0001297	HP:0032325	Lacunar stroke	2	CST3 CL E G H	1471	100008				ORPHA	1	54	2475	604312
HP:0001297	HP:0032325	Lacunar stroke	2	CST3 CL E G H	1471	105150	Hereditary cerebral amyloid angiopathy, Icelandic type	105150	C1527338	OMIM	1	54	2475	604312
HP:0001297	HP:0032325	Lacunar stroke	2	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	966	3327	130160
HP:0001297	HP:0032325	Lacunar stroke	2	FLNA CL E G H	2316	300049	Periventricular nodular heterotopia 1	300049	C1848213	OMIM	1	3033	3754	300017
HP:0001297	HP:0032325	Lacunar stroke	2	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	1	91	4390	600998
HP:0001297	HP:0032325	Lacunar stroke	2	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	178	4659	601679
HP:0001297	HP:0032325	Lacunar stroke	2	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	266	4661	604318
HP:0001297	HP:0032325	Lacunar stroke	2	GUCY1A1 CL E G H	2982	401945				ORPHA	1	102	4685	139396
HP:0001297	HP:0032325	Lacunar stroke	2	GYS1 CL E G H	2997	611556	Glycogen storage disease 0, muscle	611556	C1969054	OMIM	1	607	4706	138570
HP:0001297	HP:0032325	Lacunar stroke	2	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1600	4827	141900
HP:0001297	HP:0032325	Lacunar stroke	2	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	285	9476	602194
HP:0001297	HP:0032325	Lacunar stroke	2	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0001297	HP:0032325	Lacunar stroke	2	KCNQ1 CL E G H	3784	607554	Atrial fibrillation, familial, 3	607554	C1837014	OMIM	1	2200	6294	607542
HP:0001297	HP:0032325	Lacunar stroke	2	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	232	6613	601329
HP:0001297	HP:0032325	Lacunar stroke	2	MTHFR CL E G H	4524	236250	Homocysteinemia due to MTHFR deficiency	236250	C1856058	OMIM	1	724	7436	607093
HP:0001297	HP:0032325	Lacunar stroke	2	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1343	7883	600276
HP:0001297	HP:0032325	Lacunar stroke	2	NPPA CL E G H	4878	615745	Atrial standstill 2	615745	C3810401	OMIM	1	182	7939	108780
HP:0001297	HP:0032325	Lacunar stroke	2	PRKAG2 CL E G H	51422	194200	Wolff-Parkinson-White pattern	194200	C0043202	OMIM	1	1079	9386	602743
HP:0001297	HP:0032325	Lacunar stroke	2	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	200	9970	600404
HP:0001297	HP:0032325	Lacunar stroke	2	SCN5A CL E G H	6331	601154	Dilated cardiomyopathy 1E	601154	C1832680	OMIM	1	3531	10593	600163
HP:0001297	HP:0032325	Lacunar stroke	2	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	194	11586	605842
HP:0001297	HP:0032325	Lacunar stroke	2	TPP2 CL E G H	7174	444463				ORPHA	1	625	12016	190470
HP:0001297	HP:0032325	Lacunar stroke	2	TREX1 CL E G H	11277	247691				ORPHA	1	418	12269	606609
HP:0001297	HP:0032325	Lacunar stroke	2	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	418	12269	606609
HP:0001297	HP:0032325	Lacunar stroke	2	VHL CL E G H	7428	263400	Erythrocytosis, familial, 2	263400	C1837915	OMIM	1	1805	12687	608537
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	ABCC6 CL E G H	368	264800	Pseudoxanthoma elasticum	264800	C0033847	OMIM	1	1666	57	603234
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	ACAD9 CL E G H	28976	611126	Acyl-CoA dehydrogenase family, member 9, deficiency of	611126	C1970173	OMIM	1	771	21497	611103
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	ADA2 CL E G H	51816	182410	Idiopathic livedo reticularis with systemic involvement	182410	C0282492	OMIM	1	533	1839	607575
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	APP CL E G H	351	324708				ORPHA	1	506	620	104760
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	APP CL E G H	351	324713				ORPHA	1	506	620	104760
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	APP CL E G H	351	324703				ORPHA	1	506	620	104760
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	APP CL E G H	351	100006				ORPHA	1	506	620	104760
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	APP CL E G H	351	605714	Cerebral amyloid angiopathy, APP-related	605714	C2751536	OMIM	1	506	620	104760
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	BAZ1B CL E G H	9031	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	249	961	605681
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	1120	1550	613381
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	CCM2 CL E G H	83605	603284	Cerebral cavernous malformations 2	603284	C1864041	OMIM	1	310	21708	607929
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	CLIP2 CL E G H	7461	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	229	2586	603432
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	CST3 CL E G H	1471	100008				ORPHA	1	54	2475	604312
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	CST3 CL E G H	1471	105150	Hereditary cerebral amyloid angiopathy, Icelandic type	105150	C1527338	OMIM	1	54	2475	604312
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	ELN CL E G H	2006	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	966	3327	130160
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	FLNA CL E G H	2316	300049	Periventricular nodular heterotopia 1	300049	C1848213	OMIM	1	3033	3754	300017
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	GNAQ CL E G H	2776	3205	LBWD syndrome			ORPHA	1	91	4390	600998
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	GTF2I CL E G H	2969	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	178	4659	601679
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	GTF2IRD1 CL E G H	9569	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	266	4661	604318
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	GUCY1A1 CL E G H	2982	401945				ORPHA	1	102	4685	139396
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	GYS1 CL E G H	2997	611556	Glycogen storage disease 0, muscle	611556	C1969054	OMIM	1	607	4706	138570
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	HBB CL E G H	3043	603903	Hb SS disease	603903	C0002895	OMIM	1	1600	4827	141900
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	HTRA1 CL E G H	5654	600142	Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy	600142	C1838577	OMIM	1	285	9476	602194
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	JAG1 CL E G H	182	118450	Alagille syndrome 1	118450	C1956125	OMIM	1	1605	6188	601920
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	KCNQ1 CL E G H	3784	607554	Atrial fibrillation, familial, 3	607554	C1837014	OMIM	1	2200	6294	607542
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	LIMK1 CL E G H	3984	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	232	6613	601329
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	MTHFR CL E G H	4524	236250	Homocysteinemia due to MTHFR deficiency	236250	C1856058	OMIM	1	724	7436	607093
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	NOTCH3 CL E G H	4854	125310	Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	125310	C0751587	OMIM	1	1343	7883	600276
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	NPPA CL E G H	4878	615745	Atrial standstill 2	615745	C3810401	OMIM	1	182	7939	108780
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	PRKAG2 CL E G H	51422	194200	Wolff-Parkinson-White pattern	194200	C0043202	OMIM	1	1079	9386	602743
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	RFC2 CL E G H	5982	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	200	9970	600404
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	SCN5A CL E G H	6331	601154	Dilated cardiomyopathy 1E	601154	C1832680	OMIM	1	3531	10593	600163
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	TBL2 CL E G H	26608	904	Blepharophimosis nasal groove growth retardation			ORPHA	1	194	11586	605842
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	TPP2 CL E G H	7174	444463				ORPHA	1	625	12016	190470
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	TREX1 CL E G H	11277	247691				ORPHA	1	418	12269	606609
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	TREX1 CL E G H	11277	192315	Vasculopathy, retinal, with cerebral leukodystrophy	192315	C1860518	OMIM	1	418	12269	606609
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	VHL CL E G H	7428	263400	Erythrocytosis, familial, 2	263400	C1837915	OMIM	1	1805	12687	608537
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001297	HP:0001297	Stroke	0	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	533	1839	607575
HP:0001297	HP:0001297	Stroke	0	AGXT CL E G H	189	93598				ORPHA	0	754	341	604285
HP:0001297	HP:0001297	Stroke	0	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	0	686	758	603470
HP:0001297	HP:0001297	Stroke	0	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	0	1785	2202	120130
HP:0001297	HP:0001297	Stroke	0	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	0	1507	2323	608307
HP:0001297	HP:0001297	Stroke	0	CYP11B1 CL E G H	1584	90795				ORPHA	0	703	2591	610613
HP:0001297	HP:0001297	Stroke	0	DYRK1B CL E G H	9149	615812	Abdominal obesity-metabolic syndrome 3	615812	C4014361	OMIM	0	108	3092	604556
HP:0001297	HP:0001297	Stroke	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0001297	HP:0001297	Stroke	0	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	0	412	6192	147796
HP:0001297	HP:0001297	Stroke	0	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0001297	HP:0001297	Stroke	0	MMUT CL E G H	4594	79312				ORPHA	0	896	7526	609058
HP:0001297	HP:0001297	Stroke	0	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	0	562	7217	159530
HP:0001297	HP:0001297	Stroke	0	MYD88 CL E G H	4615	33226				ORPHA	0	141	7562	602170
HP:0001297	HP:0001297	Stroke	0	MYH11 CL E G H	4629	229				ORPHA	0	2993	7569	160745
HP:0001297	HP:0001297	Stroke	0	MYH11 CL E G H	4629	132900	Aortic aneurysm, familial thoracic 4	132900	C1851504	OMIM	0	2993	7569	160745
HP:0001297	HP:0001297	Stroke	0	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	0	209	7978	138040
HP:0001297	HP:0001297	Stroke	0	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	0	923	8512	300461
HP:0001297	HP:0001297	Stroke	0	PCNT CL E G H	5116	2637	Hemimegalencephaly			ORPHA	0	2001	16068	605925
HP:0001297	HP:0001297	Stroke	0	SLC19A2 CL E G H	10560	49827				ORPHA	0	246	10938	603941
HP:0001297	HP:0001297	Stroke	0	SLC19A2 CL E G H	10560	249270	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	249270	C0342287	OMIM	0	246	10938	603941
HP:0001297	HP:0001297	Stroke	0	SMAD4 CL E G H	4089	175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	175050	C1832942	OMIM	0	1898	6770	600993
HP:0001297	HP:0001297	Stroke	0	SNAP29 CL E G H	9342	66631				ORPHA	0	658	11133	604202
HP:0001297	HP:0001297	Stroke	0	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	0	326	25941	612839
HP:0001297	HP:0001297	Stroke	0	TNXB CL E G H	7148	230839				ORPHA	0	2159	11976	600985
HP:0001297	HP:0002401	Stroke-like episode	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	533	1839	607575
HP:0001297	HP:0002140	Ischemic stroke	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	533	1839	607575
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	533	1839	607575
HP:0001297	HP:0002326	Transient ischemic attack	1	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	533	1839	607575
HP:0001297	HP:0002140	Ischemic stroke	1	AGXT CL E G H	189	93598				ORPHA	0	754	341	604285
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	AGXT CL E G H	189	93598				ORPHA	0	754	341	604285
HP:0001297	HP:0002326	Transient ischemic attack	1	AGXT CL E G H	189	93598				ORPHA	0	754	341	604285
HP:0001297	HP:0002401	Stroke-like episode	1	AGXT CL E G H	189	93598				ORPHA	0	754	341	604285
HP:0001297	HP:0002326	Transient ischemic attack	1	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	0	686	758	603470
HP:0001297	HP:0002401	Stroke-like episode	1	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	0	686	758	603470
HP:0001297	HP:0002140	Ischemic stroke	1	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	0	686	758	603470
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	0	686	758	603470
HP:0001297	HP:0002140	Ischemic stroke	1	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	0	1785	2202	120130
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	0	1785	2202	120130
HP:0001297	HP:0002326	Transient ischemic attack	1	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	0	1785	2202	120130
HP:0001297	HP:0002401	Stroke-like episode	1	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	0	1785	2202	120130
HP:0001297	HP:0002401	Stroke-like episode	1	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	0	1507	2323	608307
HP:0001297	HP:0002140	Ischemic stroke	1	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	0	1507	2323	608307
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	0	1507	2323	608307
HP:0001297	HP:0002326	Transient ischemic attack	1	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	0	1507	2323	608307
HP:0001297	HP:0002326	Transient ischemic attack	1	CYP11B1 CL E G H	1584	90795				ORPHA	0	703	2591	610613
HP:0001297	HP:0002401	Stroke-like episode	1	CYP11B1 CL E G H	1584	90795				ORPHA	0	703	2591	610613
HP:0001297	HP:0002140	Ischemic stroke	1	CYP11B1 CL E G H	1584	90795				ORPHA	0	703	2591	610613
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	CYP11B1 CL E G H	1584	90795				ORPHA	0	703	2591	610613
HP:0001297	HP:0002326	Transient ischemic attack	1	DYRK1B CL E G H	9149	615812	Abdominal obesity-metabolic syndrome 3	615812	C4014361	OMIM	0	108	3092	604556
HP:0001297	HP:0002401	Stroke-like episode	1	DYRK1B CL E G H	9149	615812	Abdominal obesity-metabolic syndrome 3	615812	C4014361	OMIM	0	108	3092	604556
HP:0001297	HP:0002140	Ischemic stroke	1	DYRK1B CL E G H	9149	615812	Abdominal obesity-metabolic syndrome 3	615812	C4014361	OMIM	0	108	3092	604556
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	DYRK1B CL E G H	9149	615812	Abdominal obesity-metabolic syndrome 3	615812	C4014361	OMIM	0	108	3092	604556
HP:0001297	HP:0002140	Ischemic stroke	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0001297	HP:0002326	Transient ischemic attack	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0001297	HP:0002401	Stroke-like episode	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0001297	HP:0002401	Stroke-like episode	1	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	0	412	6192	147796
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	0	412	6192	147796
HP:0001297	HP:0002140	Ischemic stroke	1	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	0	412	6192	147796
HP:0001297	HP:0002326	Transient ischemic attack	1	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	0	412	6192	147796
HP:0001297	HP:0002401	Stroke-like episode	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0001297	HP:0002140	Ischemic stroke	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0001297	HP:0002326	Transient ischemic attack	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0001297	HP:0002401	Stroke-like episode	1	MMUT CL E G H	4594	79312				ORPHA	0	896	7526	609058
HP:0001297	HP:0002140	Ischemic stroke	1	MMUT CL E G H	4594	79312				ORPHA	0	896	7526	609058
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	MMUT CL E G H	4594	79312				ORPHA	0	896	7526	609058
HP:0001297	HP:0002326	Transient ischemic attack	1	MMUT CL E G H	4594	79312				ORPHA	0	896	7526	609058
HP:0001297	HP:0002401	Stroke-like episode	1	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	0	562	7217	159530
HP:0001297	HP:0002140	Ischemic stroke	1	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	0	562	7217	159530
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	0	562	7217	159530
HP:0001297	HP:0002326	Transient ischemic attack	1	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	0	562	7217	159530
HP:0001297	HP:0002326	Transient ischemic attack	1	MYD88 CL E G H	4615	33226				ORPHA	0	141	7562	602170
HP:0001297	HP:0002401	Stroke-like episode	1	MYD88 CL E G H	4615	33226				ORPHA	0	141	7562	602170
HP:0001297	HP:0002140	Ischemic stroke	1	MYD88 CL E G H	4615	33226				ORPHA	0	141	7562	602170
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	MYD88 CL E G H	4615	33226				ORPHA	0	141	7562	602170
HP:0001297	HP:0002140	Ischemic stroke	1	MYH11 CL E G H	4629	229				ORPHA	0	2993	7569	160745
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	MYH11 CL E G H	4629	229				ORPHA	0	2993	7569	160745
HP:0001297	HP:0002326	Transient ischemic attack	1	MYH11 CL E G H	4629	229				ORPHA	0	2993	7569	160745
HP:0001297	HP:0002401	Stroke-like episode	1	MYH11 CL E G H	4629	229				ORPHA	0	2993	7569	160745
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	MYH11 CL E G H	4629	132900	Aortic aneurysm, familial thoracic 4	132900	C1851504	OMIM	0	2993	7569	160745
HP:0001297	HP:0002140	Ischemic stroke	1	MYH11 CL E G H	4629	132900	Aortic aneurysm, familial thoracic 4	132900	C1851504	OMIM	0	2993	7569	160745
HP:0001297	HP:0002326	Transient ischemic attack	1	MYH11 CL E G H	4629	132900	Aortic aneurysm, familial thoracic 4	132900	C1851504	OMIM	0	2993	7569	160745
HP:0001297	HP:0002401	Stroke-like episode	1	MYH11 CL E G H	4629	132900	Aortic aneurysm, familial thoracic 4	132900	C1851504	OMIM	0	2993	7569	160745
HP:0001297	HP:0002140	Ischemic stroke	1	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	0	209	7978	138040
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	0	209	7978	138040
HP:0001297	HP:0002326	Transient ischemic attack	1	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	0	209	7978	138040
HP:0001297	HP:0002401	Stroke-like episode	1	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	0	209	7978	138040
HP:0001297	HP:0002326	Transient ischemic attack	1	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	0	923	8512	300461
HP:0001297	HP:0002401	Stroke-like episode	1	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	0	923	8512	300461
HP:0001297	HP:0002140	Ischemic stroke	1	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	0	923	8512	300461
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	0	923	8512	300461
HP:0001297	HP:0002401	Stroke-like episode	1	PCNT CL E G H	5116	2637	Hemimegalencephaly			ORPHA	0	2001	16068	605925
HP:0001297	HP:0002140	Ischemic stroke	1	PCNT CL E G H	5116	2637	Hemimegalencephaly			ORPHA	0	2001	16068	605925
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	PCNT CL E G H	5116	2637	Hemimegalencephaly			ORPHA	0	2001	16068	605925
HP:0001297	HP:0002326	Transient ischemic attack	1	PCNT CL E G H	5116	2637	Hemimegalencephaly			ORPHA	0	2001	16068	605925
HP:0001297	HP:0002140	Ischemic stroke	1	SLC19A2 CL E G H	10560	49827				ORPHA	0	246	10938	603941
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	SLC19A2 CL E G H	10560	49827				ORPHA	0	246	10938	603941
HP:0001297	HP:0002326	Transient ischemic attack	1	SLC19A2 CL E G H	10560	49827				ORPHA	0	246	10938	603941
HP:0001297	HP:0002401	Stroke-like episode	1	SLC19A2 CL E G H	10560	49827				ORPHA	0	246	10938	603941
HP:0001297	HP:0002326	Transient ischemic attack	1	SLC19A2 CL E G H	10560	249270	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	249270	C0342287	OMIM	0	246	10938	603941
HP:0001297	HP:0002401	Stroke-like episode	1	SLC19A2 CL E G H	10560	249270	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	249270	C0342287	OMIM	0	246	10938	603941
HP:0001297	HP:0002140	Ischemic stroke	1	SLC19A2 CL E G H	10560	249270	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	249270	C0342287	OMIM	0	246	10938	603941
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	SLC19A2 CL E G H	10560	249270	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	249270	C0342287	OMIM	0	246	10938	603941
HP:0001297	HP:0002401	Stroke-like episode	1	SMAD4 CL E G H	4089	175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	175050	C1832942	OMIM	0	1898	6770	600993
HP:0001297	HP:0002140	Ischemic stroke	1	SMAD4 CL E G H	4089	175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	175050	C1832942	OMIM	0	1898	6770	600993
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	SMAD4 CL E G H	4089	175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	175050	C1832942	OMIM	0	1898	6770	600993
HP:0001297	HP:0002326	Transient ischemic attack	1	SMAD4 CL E G H	4089	175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	175050	C1832942	OMIM	0	1898	6770	600993
HP:0001297	HP:0002401	Stroke-like episode	1	SNAP29 CL E G H	9342	66631				ORPHA	0	658	11133	604202
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	SNAP29 CL E G H	9342	66631				ORPHA	0	658	11133	604202
HP:0001297	HP:0002140	Ischemic stroke	1	SNAP29 CL E G H	9342	66631				ORPHA	0	658	11133	604202
HP:0001297	HP:0002326	Transient ischemic attack	1	SNAP29 CL E G H	9342	66631				ORPHA	0	658	11133	604202
HP:0001297	HP:0002326	Transient ischemic attack	1	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	0	326	25941	612839
HP:0001297	HP:0002401	Stroke-like episode	1	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	0	326	25941	612839
HP:0001297	HP:0002140	Ischemic stroke	1	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	0	326	25941	612839
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	0	326	25941	612839
HP:0001297	HP:0002326	Transient ischemic attack	1	TNXB CL E G H	7148	230839				ORPHA	0	2159	11976	600985
HP:0001297	HP:0002401	Stroke-like episode	1	TNXB CL E G H	7148	230839				ORPHA	0	2159	11976	600985
HP:0001297	HP:0002140	Ischemic stroke	1	TNXB CL E G H	7148	230839				ORPHA	0	2159	11976	600985
HP:0001297	HP:0033762	Middle cerebral artery stroke	1	TNXB CL E G H	7148	230839				ORPHA	0	2159	11976	600985
HP:0001297	HP:0032325	Lacunar stroke	2	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	533	1839	607575
HP:0001297	HP:0032325	Lacunar stroke	2	AGXT CL E G H	189	93598				ORPHA	0	754	341	604285
HP:0001297	HP:0032325	Lacunar stroke	2	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	0	686	758	603470
HP:0001297	HP:0032325	Lacunar stroke	2	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	0	1785	2202	120130
HP:0001297	HP:0032325	Lacunar stroke	2	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	0	1507	2323	608307
HP:0001297	HP:0032325	Lacunar stroke	2	CYP11B1 CL E G H	1584	90795				ORPHA	0	703	2591	610613
HP:0001297	HP:0032325	Lacunar stroke	2	DYRK1B CL E G H	9149	615812	Abdominal obesity-metabolic syndrome 3	615812	C4014361	OMIM	0	108	3092	604556
HP:0001297	HP:0032325	Lacunar stroke	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0001297	HP:0032325	Lacunar stroke	2	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	0	412	6192	147796
HP:0001297	HP:0032325	Lacunar stroke	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0001297	HP:0032325	Lacunar stroke	2	MMUT CL E G H	4594	79312				ORPHA	0	896	7526	609058
HP:0001297	HP:0032325	Lacunar stroke	2	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	0	562	7217	159530
HP:0001297	HP:0032325	Lacunar stroke	2	MYD88 CL E G H	4615	33226				ORPHA	0	141	7562	602170
HP:0001297	HP:0032325	Lacunar stroke	2	MYH11 CL E G H	4629	229				ORPHA	0	2993	7569	160745
HP:0001297	HP:0032325	Lacunar stroke	2	MYH11 CL E G H	4629	132900	Aortic aneurysm, familial thoracic 4	132900	C1851504	OMIM	0	2993	7569	160745
HP:0001297	HP:0032325	Lacunar stroke	2	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	0	209	7978	138040
HP:0001297	HP:0032325	Lacunar stroke	2	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	0	923	8512	300461
HP:0001297	HP:0032325	Lacunar stroke	2	PCNT CL E G H	5116	2637	Hemimegalencephaly			ORPHA	0	2001	16068	605925
HP:0001297	HP:0032325	Lacunar stroke	2	SLC19A2 CL E G H	10560	49827				ORPHA	0	246	10938	603941
HP:0001297	HP:0032325	Lacunar stroke	2	SLC19A2 CL E G H	10560	249270	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	249270	C0342287	OMIM	0	246	10938	603941
HP:0001297	HP:0032325	Lacunar stroke	2	SMAD4 CL E G H	4089	175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	175050	C1832942	OMIM	0	1898	6770	600993
HP:0001297	HP:0032325	Lacunar stroke	2	SNAP29 CL E G H	9342	66631				ORPHA	0	658	11133	604202
HP:0001297	HP:0032325	Lacunar stroke	2	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	0	326	25941	612839
HP:0001297	HP:0032325	Lacunar stroke	2	TNXB CL E G H	7148	230839				ORPHA	0	2159	11976	600985
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	ADA2 CL E G H	51816	615688	Polyarteritis nodosa, childhoood-onset	615688	C3887654	OMIM	0	533	1839	607575
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	AGXT CL E G H	189	93598				ORPHA	0	754	341	604285
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	ASS1 CL E G H	445	215700	Citrullinemia type I	215700	C0175683	OMIM	0	686	758	603470
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	COL4A1 CL E G H	1282	611773	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	611773	C2673195	OMIM	0	1785	2202	120130
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	CPS1 CL E G H	1373	237300	Congenital hyperammonemia, type I	237300	C0751753	OMIM	0	1507	2323	608307
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	CYP11B1 CL E G H	1584	90795				ORPHA	0	703	2591	610613
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	DYRK1B CL E G H	9149	615812	Abdominal obesity-metabolic syndrome 3	615812	C4014361	OMIM	0	108	3092	604556
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	966	3327	130160
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	JAK2 CL E G H	3717	729	Anti-factor 8 autoimmunization			ORPHA	0	412	6192	147796
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	248	12744	605678
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	MMUT CL E G H	4594	79312				ORPHA	0	896	7526	609058
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	MPL CL E G H	4352	729	Anti-factor 8 autoimmunization			ORPHA	0	562	7217	159530
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	MYD88 CL E G H	4615	33226				ORPHA	0	141	7562	602170
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	MYH11 CL E G H	4629	229				ORPHA	0	2993	7569	160745
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	MYH11 CL E G H	4629	132900	Aortic aneurysm, familial thoracic 4	132900	C1851504	OMIM	0	2993	7569	160745
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	NR3C1 CL E G H	2908	786	Arthrogryposis multiplex congenita distal			ORPHA	0	209	7978	138040
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	OTC CL E G H	5009	311250	Ornithine carbamoyltransferase deficiency	311250	C0268542	OMIM	0	923	8512	300461
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	PCNT CL E G H	5116	2637	Hemimegalencephaly			ORPHA	0	2001	16068	605925
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	SLC19A2 CL E G H	10560	49827				ORPHA	0	246	10938	603941
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	SLC19A2 CL E G H	10560	249270	Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	249270	C0342287	OMIM	0	246	10938	603941
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	SMAD4 CL E G H	4089	175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	175050	C1832942	OMIM	0	1898	6770	600993
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	SNAP29 CL E G H	9342	66631				ORPHA	0	658	11133	604202
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	TET2 CL E G H	54790	729	Anti-factor 8 autoimmunization			ORPHA	0	326	25941	612839
HP:0001297	HP:0032570	Pontine ischemic lacunes	3	TNXB CL E G H	7148	230839				ORPHA	0	2159	11976	600985

Genes (109) :ABCC6 ACAD9 ACTA2 ACTB ACTG1 ACVRL1 ADA2 AGXT ANGPTL6 APP ASS1 BAZ1B CALR CBS CCM2 CLIP2 COL3A1 COL4A1 COL5A1 COX1 COX2 COX3 CPS1 CST3 CYP11B1 CYTB DPM3 DYRK1B ELN ENG FBN1 FLNA FOXE3 GDF2 GLA GNAQ GTF2I GTF2IRD1 GUCY1A1 GYS1 HBB HTRA1 JAG1 JAK2 KCNQ1 LIMK1 LMNA LOX MAT2A MFAP5 MLXIPL MMUT MPL MTHFR MYD88 MYH11 MYLK ND1 ND4 ND5 ND6 NOTCH3 NPPA NR3C1 OTC PCNT PIGA PMM2 PRKAG2 PRKG1 PRNP RFC2 RFT1 SCN5A SH2B3 SLC19A2 SLC2A10 SMAD3 SMAD4 SMARCAL1 SNAP29 SON STIM1 TBL2 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THPO TNXB TP53 TPP2 TREX1 TRNC TRNF TRNH TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TTR VHL WFS1 ZMPSTE24

Diseases (79) :264800 611126 182410 615688 93598 100006 324713 324703 324708 605714 215700 904 236200 603284 611773 237300 100008 105150 90795 615812 194050 300049 3205 401945 611556 603903 600142 118450 729 607554 79312 236250 33226 229 132900 125310 615745 786 311250 2637 194200 601154 49827 249270 175050 66631 230839 444463 247691 192315 263400 91387 2995 774 600376 231160 3318 286 175780 550 540000 263494 187300 301500 324 615750 616779 71493 740 447 212065 282166 244310 208050 242900 500150 185070 105210 222300

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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