Human Phenotype Ontology

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 artery morphology (HP:0009145)

Grandparent Node:
Vascular dilatation (HP:0002617)

Parent Node:
Dilatation of the cerebral artery (HP:0004944)

..Starting node
..Fusiform cerebral aneurysm (HP:0031056)

Term ID:

31056

Name:

Fusiform cerebral aneurysm

Synonym:

Intracranial fusiform aneurysm

Definition:

A localized circumferential (i.e., bulges on all sides) dilatation or ballooning of a cerebral artery.

Comments:

Reference:

HP:0031056

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral berry aneurysm (HP:0007029)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031056	HP:0031056	Fusiform cerebral aneurysm	0	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12	2

Genes (1) :THSD1

Diseases (1) :OMIM:618734

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