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:
Abnormal cerebral vascular morphology (HP:0100659)

Grandparent Node:
Internal hemorrhage (HP:0011029)

Parent Node:
Intracranial hemorrhage (HP:0002170)

..Starting node
..Cerebral hemorrhage (HP:0001342)

Term ID:

1342

Name:

Cerebral hemorrhage

Synonym:

Bleeding in brain; Cerebral haemorrhage; Hemorrhagic stroke; Intracerebral haemorrhage; Intracerebral hemorrhage

Definition:

Hemorrhage into the parenchyma of the brain.

Comments:

Reference:

HP:0001342

Genes and Diseases:

Child Nodes:

........

Recurrent cerebral hemorrhage (HP:0004968)

........

Antenatal intracerebral hemorrhage (HP:0007023)

Sister Nodes:

Cerebellar hemorrhage (HP:0011695)

Epidural hemorrhage (HP:0100310)

Intraventricular hemorrhage (HP:0030746)

Subarachnoid hemorrhage (HP:0002138)

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:0001342	HP:0001342	Cerebral hemorrhage	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0001342	HP:0001342	Cerebral hemorrhage	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	178
HP:0001342	HP:0001342	Cerebral hemorrhage	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0001342	HP:0001342	Cerebral hemorrhage	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0001342	HP:0001342	Cerebral hemorrhage	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0001342	HP:0001342	Cerebral hemorrhage	0	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type	HP:0040281 - Very frequent	74
HP:0001342	HP:0001342	Cerebral hemorrhage	0	APP CL E G H	351	620	ORPHA:324708	ABeta amyloidosis, Iowa type	HP:0040281 - Very frequent	74
HP:0001342	HP:0001342	Cerebral hemorrhage	0	APP CL E G H	351	620	ORPHA:324713	ABeta amyloidosis, Italian type	HP:0040281 - Very frequent	74
HP:0001342	HP:0001342	Cerebral hemorrhage	0	APP CL E G H	351	620	ORPHA:324703	ABetaL34V amyloidosis	HP:0040281 - Very frequent	74
HP:0001342	HP:0001342	Cerebral hemorrhage	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related		74
HP:0001342	HP:0001342	Cerebral hemorrhage	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0001342	HP:0001342	Cerebral hemorrhage	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent	8
HP:0001342	HP:0001342	Cerebral hemorrhage	0	CCM2 CL E G H	83605	21708	OMIM:603284	Cerebral cavernous malformations-2	.	37
HP:0001342	HP:0001342	Cerebral hemorrhage	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040281 - Very frequent	37
HP:0001342	HP:0001342	Cerebral hemorrhage	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040284 - Very rare	39
HP:0001342	HP:0001342	Cerebral hemorrhage	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040284 - Very rare	86
HP:0001342	HP:0001342	Cerebral hemorrhage	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040284 - Very rare	57
HP:0001342	HP:0001342	Cerebral hemorrhage	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.	193
HP:0001342	HP:0001342	Cerebral hemorrhage	0	COLGALT1 CL E G H	79709	26182	OMIM:618360	Brain small vessel disease 3	.
HP:0001342	HP:0001342	Cerebral hemorrhage	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0001342	HP:0001342	Cerebral hemorrhage	0	CST3 CL E G H	1471	2475	ORPHA:100008	ACys amyloidosis	HP:0040281 - Very frequent	3
HP:0001342	HP:0001342	Cerebral hemorrhage	0	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI	.	3
HP:0001342	HP:0001342	Cerebral hemorrhage	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001342	HP:0001342	Cerebral hemorrhage	0	DNMT3A CL E G H	1788	2978	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	44
HP:0001342	HP:0001342	Cerebral hemorrhage	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	186
HP:0001342	HP:0001342	Cerebral hemorrhage	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0001342	HP:0001342	Cerebral hemorrhage	0	EPAS1 CL E G H	2034	3374	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	112
HP:0001342	HP:0001342	Cerebral hemorrhage	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	60
HP:0001342	HP:0001342	Cerebral hemorrhage	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040282 - Frequent	32
HP:0001342	HP:0001342	Cerebral hemorrhage	0	FCGR2C CL E G H	9103	15626	ORPHA:3002	Immune thrombocytopenia	HP:0040284 - Very rare
HP:0001342	HP:0001342	Cerebral hemorrhage	0	FGA CL E G H	2243	3661	ORPHA:98880	Familial afibrinogenemia	HP:0040283 - Occasional	47
HP:0001342	HP:0001342	Cerebral hemorrhage	0	FGB CL E G H	2244	3662	ORPHA:98880	Familial afibrinogenemia	HP:0040283 - Occasional	62
HP:0001342	HP:0001342	Cerebral hemorrhage	0	FGG CL E G H	2266	3694	ORPHA:98880	Familial afibrinogenemia	HP:0040283 - Occasional	34
HP:0001342	HP:0001342	Cerebral hemorrhage	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	301
HP:0001342	HP:0001342	Cerebral hemorrhage	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant		493
HP:0001342	HP:0001342	Cerebral hemorrhage	0	FN1 CL E G H	2335	3778	ORPHA:84090	Fibronectin glomerulopathy	HP:0040283 - Occasional	9
HP:0001342	HP:0001342	Cerebral hemorrhage	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	8
HP:0001342	HP:0001342	Cerebral hemorrhage	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1		129
HP:0001342	HP:0001342	Cerebral hemorrhage	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040284 - Very rare
HP:0001342	HP:0001342	Cerebral hemorrhage	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001342	HP:0001342	Cerebral hemorrhage	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.	57
HP:0001342	HP:0001342	Cerebral hemorrhage	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.	57
HP:0001342	HP:0001342	Cerebral hemorrhage	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	202
HP:0001342	HP:0001342	Cerebral hemorrhage	0	KIF1B CL E G H	23095	16636	OMIM:171300	PHEOCHROMOCYTOMA	.	202
HP:0001342	HP:0001342	Cerebral hemorrhage	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040281 - Very frequent	92
HP:0001342	HP:0001342	Cerebral hemorrhage	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001342	HP:0001342	Cerebral hemorrhage	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	84
HP:0001342	HP:0001342	Cerebral hemorrhage	0	MAX CL E G H	4149	6913	OMIM:171300	PHEOCHROMOCYTOMA	.	84
HP:0001342	HP:0001342	Cerebral hemorrhage	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	4
HP:0001342	HP:0001342	Cerebral hemorrhage	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly		96
HP:0001342	HP:0001342	Cerebral hemorrhage	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	1952
HP:0001342	HP:0001342	Cerebral hemorrhage	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0001342	HP:0001342	Cerebral hemorrhage	0	NOTCH3 CL E G H	4854	7883	ORPHA:136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	HP:0040283 - Occasional	144
HP:0001342	HP:0001342	Cerebral hemorrhage	0	PDCD10 CL E G H	11235	8761	OMIM:603285	Cerebral cavernous malformations 3	HP:0040282 - Frequent	21
HP:0001342	HP:0001342	Cerebral hemorrhage	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040281 - Very frequent	21
HP:0001342	HP:0001342	Cerebral hemorrhage	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0001342	HP:0001342	Cerebral hemorrhage	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0001342	HP:0001342	Cerebral hemorrhage	0	PROS1 CL E G H	5627	9456	OMIM:614514	Thrombophilia due to protein S deficiency, autosomal recessive	.	75
HP:0001342	HP:0001342	Cerebral hemorrhage	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	572
HP:0001342	HP:0001342	Cerebral hemorrhage	0	RET CL E G H	5979	9967	OMIM:171300	PHEOCHROMOCYTOMA	.	572
HP:0001342	HP:0001342	Cerebral hemorrhage	0	RET CL E G H	5979	9967	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	572
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	304
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	55
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	237
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SDHB CL E G H	6390	10681	OMIM:171300	PHEOCHROMOCYTOMA	.	237
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SDHB CL E G H	6390	10681	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	237
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	147
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	129
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SDHD CL E G H	6392	10683	OMIM:171300	PHEOCHROMOCYTOMA	.	129
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SDHD CL E G H	6392	10683	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	129
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.	4
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional	504
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0001342	HP:0001342	Cerebral hemorrhage	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3		9
HP:0001342	HP:0001342	Cerebral hemorrhage	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0001342	HP:0001342	Cerebral hemorrhage	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0001342	HP:0001342	Cerebral hemorrhage	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	131
HP:0001342	HP:0001342	Cerebral hemorrhage	0	TMEM127 CL E G H	55654	26038	OMIM:171300	PHEOCHROMOCYTOMA	.	131
HP:0001342	HP:0001342	Cerebral hemorrhage	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare
HP:0001342	HP:0001342	Cerebral hemorrhage	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0001342	HP:0001342	Cerebral hemorrhage	0	VHL CL E G H	7428	12687	OMIM:263400	Erythrocytosis, familial, 2	.	490
HP:0001342	HP:0001342	Cerebral hemorrhage	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040282 - Frequent	490
HP:0001342	HP:0001342	Cerebral hemorrhage	0	VHL CL E G H	7428	12687	OMIM:171300	PHEOCHROMOCYTOMA	.	490
HP:0001342	HP:0001342	Cerebral hemorrhage	0	VHL CL E G H	7428	12687	ORPHA:276621	Sporadic pheochromocytoma/secreting paraganglioma	HP:0040282 - Frequent	490
HP:0001342	HP:0004968	Recurrent cerebral hemorrhage	1	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.	74
HP:0001342	HP:0007023	Antenatal intracerebral hemorrhage	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0001342	HP:0007023	Antenatal intracerebral hemorrhage	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent	96

Genes (66) :ABCC6 ACVRL1 ADA2 AKT1 APP BAP1 BRCC3 CCM2 CD46 CFH CFI COL4A1 COLGALT1 CPT2 CST3 DLST DNMT3A ENG EPAS1 F13A1 F13B FCGR2C FGA FGB FGG FH FLNA FN1 GDF2 GGCX HELLPAR IKBKG JAK2 KIF1B KRIT1 LMOD2 MAX MDH2 NDE1 NF1 NF2 NOTCH3 PDCD10 PDGFB PIK3CA PROS1 RET SDHA SDHAF2 SDHB SDHC SDHD SH2B3 SLC25A11 SMAD4 SMARCB1 SMARCE1 SMO SNORD118 STAT2 SUFU TERT TMEM127 TRAF7 USP18 VHL

Diseases (41) :OMIM:177850 ORPHA:774 OMIM:600376 OMIM:182410 ORPHA:2495 ORPHA:100006 ORPHA:324708 ORPHA:324713 ORPHA:324703 OMIM:605714 ORPHA:280679 OMIM:603284 ORPHA:221061 ORPHA:244242 OMIM:175780 OMIM:618360 OMIM:608836 ORPHA:100008 OMIM:105150 ORPHA:29072 ORPHA:276621 OMIM:187300 ORPHA:331 ORPHA:3002 ORPHA:98880 OMIM:300049 ORPHA:84090 OMIM:277450 OMIM:301081 OMIM:133100 OMIM:263300 OMIM:171300 OMIM:619897 ORPHA:2177 ORPHA:136 OMIM:603285 OMIM:614514 ORPHA:542310 OMIM:618886 OMIM:617397 OMIM:263400

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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