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 artery morphology (HP:0009145)

Grandparent Node:
Vascular dilatation (HP:0002617)

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

..Starting node
..Cerebral berry aneurysm (HP:0007029)

Term ID:

7029

Name:

Cerebral berry aneurysm

Synonym:

Cerebral saccular aneurysm

Definition:

A small, sac-like aneurysm (outpouching) of a cerebral blood vessel.

Comments:

Reference:

HP:0007029

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fusiform cerebral aneurysm (HP:0031056)

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:0007029	HP:0007029	Cerebral berry aneurysm	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040280 - Obligate
HP:0007029	HP:0007029	Cerebral berry aneurysm	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040280 - Obligate	749
HP:0007029	HP:0007029	Cerebral berry aneurysm	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040280 - Obligate	186
HP:0007029	HP:0007029	Cerebral berry aneurysm	0	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys		342
HP:0007029	HP:0007029	Cerebral berry aneurysm	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040280 - Obligate	1
HP:0007029	HP:0007029	Cerebral berry aneurysm	0	THSD1 CL E G H	55901	17754	OMIM:618734	ANEURYSM, INTRACRANIAL BERRY, 12; ANIB12		2
HP:0007029	HP:0007029	Cerebral berry aneurysm	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040280 - Obligate	2

Genes (6) :ANGPTL6 COL3A1 ENG PKD1 TGFBR3 THSD1

Diseases (3) :ORPHA:231160 OMIM:173900 OMIM:618734

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