Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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:
Abnormal cerebral vascular morphology (HP:0100659)

Parent Node:
Cerebral ischemia (HP:0002637)

Parent Node:
Stroke (HP:0001297)

..Starting node
..Transient ischemic attack (HP:0002326)

Term ID:

2326

Name:

Transient ischemic attack

Synonym:

Mini stroke; TIA; Transient ischaemic attack; Transient ischaemic attacks; Transient ischemic attacks

Definition:

Comments:

Reference:

HP:0002326

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ischemic stroke (HP:0002140)

Stroke-like episode (HP:0002401)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002326	HP:0002326	Transient ischemic attack	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0002326	HP:0002326	Transient ischemic attack	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0002326	HP:0002326	Transient ischemic attack	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional	72
HP:0002326	HP:0002326	Transient ischemic attack	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	208
HP:0002326	HP:0002326	Transient ischemic attack	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040283 - Occasional	123
HP:0002326	HP:0002326	Transient ischemic attack	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0002326	HP:0002326	Transient ischemic attack	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002326	HP:0002326	Transient ischemic attack	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary		129
HP:0002326	HP:0002326	Transient ischemic attack	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent
HP:0002326	HP:0002326	Transient ischemic attack	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	1
HP:0002326	HP:0002326	Transient ischemic attack	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	5
HP:0002326	HP:0002326	Transient ischemic attack	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	749
HP:0002326	HP:0002326	Transient ischemic attack	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0002326	HP:0002326	Transient ischemic attack	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0002326	HP:0002326	Transient ischemic attack	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	186
HP:0002326	HP:0002326	Transient ischemic attack	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0002326	HP:0002326	Transient ischemic attack	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002326	HP:0002326	Transient ischemic attack	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0002326	HP:0002326	Transient ischemic attack	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0002326	HP:0002326	Transient ischemic attack	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0002326	HP:0002326	Transient ischemic attack	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	87
HP:0002326	HP:0002326	Transient ischemic attack	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	37
HP:0002326	HP:0002326	Transient ischemic attack	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0002326	HP:0002326	Transient ischemic attack	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040281 - Very frequent	291
HP:0002326	HP:0002326	Transient ischemic attack	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.	291
HP:0002326	HP:0002326	Transient ischemic attack	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0002326	HP:0002326	Transient ischemic attack	0	HTRA1 CL E G H	5654	9476	OMIM:600142	Autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)		34
HP:0002326	HP:0002326	Transient ischemic attack	0	HTRA1 CL E G H	5654	9476	OMIM:616779	Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2	.	34
HP:0002326	HP:0002326	Transient ischemic attack	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	57
HP:0002326	HP:0002326	Transient ischemic attack	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	57
HP:0002326	HP:0002326	Transient ischemic attack	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0002326	HP:0002326	Transient ischemic attack	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	645
HP:0002326	HP:0002326	Transient ischemic attack	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0002326	HP:0002326	Transient ischemic attack	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0002326	HP:0002326	Transient ischemic attack	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0002326	HP:0002326	Transient ischemic attack	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	97
HP:0002326	HP:0002326	Transient ischemic attack	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	97
HP:0002326	HP:0002326	Transient ischemic attack	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0002326	HP:0002326	Transient ischemic attack	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0002326	HP:0002326	Transient ischemic attack	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	452
HP:0002326	HP:0002326	Transient ischemic attack	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0002326	HP:0002326	Transient ischemic attack	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	90
HP:0002326	HP:0002326	Transient ischemic attack	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040282 - Frequent	144
HP:0002326	HP:0002326	Transient ischemic attack	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0002326	HP:0002326	Transient ischemic attack	0	RNF213 CL E G H	57674	14539	OMIM:607151	MOYAMOYA DISEASE 2; MYMY2		14
HP:0002326	HP:0002326	Transient ischemic attack	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	4
HP:0002326	HP:0002326	Transient ischemic attack	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0002326	HP:0002326	Transient ischemic attack	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0002326	HP:0002326	Transient ischemic attack	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0002326	HP:0002326	Transient ischemic attack	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0002326	HP:0002326	Transient ischemic attack	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.	74
HP:0002326	HP:0002326	Transient ischemic attack	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040283 - Occasional	74
HP:0002326	HP:0002326	Transient ischemic attack	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002326	HP:0002326	Transient ischemic attack	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	20
HP:0002326	HP:0002326	Transient ischemic attack	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	3
HP:0002326	HP:0002326	Transient ischemic attack	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0002326	HP:0002326	Transient ischemic attack	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0002326	HP:0002326	Transient ischemic attack	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0002326	HP:0002326	Transient ischemic attack	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0002326	HP:0002326	Transient ischemic attack	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	1
HP:0002326	HP:0002326	Transient ischemic attack	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent	23
HP:0002326	HP:0002326	Transient ischemic attack	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040282 - Frequent	2
HP:0002326	HP:0002326	Transient ischemic attack	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040284 - Very rare	6
HP:0002326	HP:0002326	Transient ischemic attack	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040281 - Very frequent	911
HP:0002326	HP:0002326	Transient ischemic attack	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional	83

Genes (55) :ABCC6 ACTA2 ACTB ACTC1 ACTG1 ACVRL1 ADAMTS13 ANGPTL6 CALR CITED2 COL3A1 ELN ENG ENPP1 FBN1 FOXE3 GATA4 GATA6 GDF2 GLA HEY2 HTRA1 JAK2 KRAS LMNA LOX MAT2A MFAP5 MPL MYBPC3 MYH11 MYH6 MYLK NKX2-5 NOTCH3 PRKG1 RNF213 SH2B3 SMAD2 SMAD3 SMAD4 SMARCAL1 SON TBX20 TET2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THPO THSD1 TLL1 TP53 ZMPSTE24

Diseases (24) :ORPHA:51608 ORPHA:91387 ORPHA:2995 ORPHA:99103 ORPHA:774 OMIM:600376 OMIM:274150 ORPHA:231160 ORPHA:3318 ORPHA:286 OMIM:187300 ORPHA:324 OMIM:301500 OMIM:600142 OMIM:616779 ORPHA:71493 OMIM:600268 ORPHA:740 OMIM:115197 ORPHA:136 OMIM:607151 OMIM:242900 ORPHA:1830 ORPHA:500150

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

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