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)

Grandparent Node:
Internal hemorrhage (HP:0011029)

Parent Node:
Abnormal subarachnoid space morphology (HP:0012703)

Parent Node:
Intracranial hemorrhage (HP:0002170)

..Starting node
..Subarachnoid hemorrhage (HP:0002138)

Term ID:

2138

Name:

Subarachnoid hemorrhage

Synonym:

Subarachnoid haemorrhage

Definition:

Hemorrhage occurring between the arachnoid mater and the pia mater.

Comments:

Reference:

HP:0002138

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebellar hemorrhage (HP:0011695)

Cerebral hemorrhage (HP:0001342)

Epidural hemorrhage (HP:0100310)

Intraventricular hemorrhage (HP:0030746)

Subdural hemorrhage (HP:0100309)

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:0002138	HP:0002138	Subarachnoid hemorrhage	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	749
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	186
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040284 - Very rare	33
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II		407
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	23
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	8
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	119
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	69
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040284 - Very rare	80
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	1
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0002138	HP:0002138	Subarachnoid hemorrhage	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	2

Genes (35) :ACTA2 ACVRL1 ANGPTL6 CD109 COL3A1 DOCK8 ELN ENG F10 FBN1 FOXE3 GAA GDF2 GP1BA GP1BB HEY2 ITGA2 ITGA2B ITGB3 LOX MAT2A MFAP5 MYH11 MYLK PRKG1 RASA1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1

Diseases (12) :ORPHA:91387 ORPHA:774 OMIM:600376 ORPHA:231160 ORPHA:853 OMIM:243700 OMIM:187300 ORPHA:328 OMIM:232300 ORPHA:90307 OMIM:613795 OMIM:618734

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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