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
..Epidural hemorrhage (HP:0100310)

Term ID:

100310

Name:

Epidural hemorrhage

Synonym:

Epidural haematoma; Epidural haemorrhage; Epidural hematoma; Extradural haematoma; Extradural hematoma

Definition:

Hemorrhage occurring between the dura mater and the skull.

Comments:

Reference:

HP:0100310

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebellar hemorrhage (HP:0011695)

Cerebral hemorrhage (HP:0001342)

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:0100310	HP:0100310	Epidural hemorrhage	0	F8 CL E G H	2157	3546	ORPHA:169805	Moderate hemophilia A	HP:0040284 - Very rare	303
HP:0100310	HP:0100310	Epidural hemorrhage	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional	303
HP:0100310	HP:0100310	Epidural hemorrhage	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		47
HP:0100310	HP:0100310	Epidural hemorrhage	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		62
HP:0100310	HP:0100310	Epidural hemorrhage	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included		34
HP:0100310	HP:0100310	Epidural hemorrhage	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0100310	HP:0100310	Epidural hemorrhage	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040284 - Very rare	39

Genes (6) :F8 FGA FGB FGG IPO8 SERPINE1

Diseases (5) :ORPHA:169805 ORPHA:169802 OMIM:202400 OMIM:619472 ORPHA:465

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