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:
Intracranial hemorrhage (HP:0002170)

Parent Node:
Cerebral hemorrhage (HP:0001342)

..Starting node
..Recurrent cerebral hemorrhage (HP:0004968)

Term ID:

4968

Name:

Recurrent cerebral hemorrhage

Synonym:

Recurrent cerebral haemorrhage; Recurrent hemorrhagic stroke

Definition:

Recurrent bleeding into the parenchyma of the brain.

Comments:

Reference:

HP:0004968

Genes and Diseases:

Child Nodes:

Sister Nodes:

Antenatal intracerebral hemorrhage (HP:0007023)

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:0004968	HP:0004968	Recurrent cerebral hemorrhage	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.	74

Genes (1) :APP

Diseases (1) :OMIM:605714

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