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:
Intracranial hemorrhage (HP:0002170)

..Starting node
..Subdural hemorrhage (HP:0100309)

Term ID:

100309

Name:

Subdural hemorrhage

Synonym:

Subdural haematoma; Subdural haemorrhage; Subdural hematoma

Definition:

Hemorrhage occurring between the dura mater and the arachnoid mater.

Comments:

Reference:

HP:0100309

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebellar hemorrhage (HP:0011695)

Cerebral hemorrhage (HP:0001342)

Epidural hemorrhage (HP:0100310)

Intraventricular hemorrhage (HP:0030746)

Subarachnoid hemorrhage (HP:0002138)

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:0100309	HP:0100309	Subdural hemorrhage	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5		167
HP:0100309	HP:0100309	Subdural hemorrhage	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0100309	HP:0100309	Subdural hemorrhage	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0100309	HP:0100309	Subdural hemorrhage	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040283 - Occasional	303
HP:0100309	HP:0100309	Subdural hemorrhage	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional	303
HP:0100309	HP:0100309	Subdural hemorrhage	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0100309	HP:0100309	Subdural hemorrhage	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0100309	HP:0100309	Subdural hemorrhage	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0100309	HP:0100309	Subdural hemorrhage	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0100309	HP:0100309	Subdural hemorrhage	0	ITGA2B CL E G H	3674	6138	OMIM:273800	Glanzmann thrombasthenia		69
HP:0100309	HP:0100309	Subdural hemorrhage	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional	101
HP:0100309	HP:0100309	Subdural hemorrhage	0	STT3A CL E G H	3703	6172	OMIM:619714	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD		21

Genes (11) :DNM2 ERCC6 ERCC8 F8 FGA FGB FGG GCDH ITGA2B MMACHC STT3A

Diseases (9) :OMIM:615368 ORPHA:90324 ORPHA:169805 ORPHA:169802 OMIM:202400 ORPHA:25 OMIM:273800 ORPHA:79282 OMIM:619714

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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