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:
Abnormality of brain morphology (HP:0012443)

Grandparent Node:
Abnormality of the vasculature (HP:0002597)

Parent Node:
Abnormal cerebral vascular morphology (HP:0100659)

..Starting node
..Abnormal cerebral vein morphology (HP:0012480)

Term ID:

12480

Name:

Abnormal cerebral vein morphology

Synonym:

Abnormality of cerebral veins

Definition:

An anomaly of cerebral veins.

Comments:

Reference:

HP:0012480

Genes and Diseases:

Child Nodes:

........

Cerebral venous angioma (HP:0012481)

................... HP:0012482 Frontal venous angioma

........

Vein of Galen aneurysmal malformation (HP:0030713)

Sister Nodes:

Abnormal cerebral artery morphology (HP:0009145)

Cerebral arteriovenous malformation (HP:0002408)

Cerebral vasculitis (HP:0005318)

Dilation of Virchow-Robin spaces (HP:0012520)

Intracranial hemorrhage (HP:0002170)

Stroke (HP:0001297)

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:0012480	HP:0012480	Abnormal cerebral vein morphology	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	132
HP:0012480	HP:0012480	Abnormal cerebral vein morphology	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome		6
HP:0012480	HP:0012480	Abnormal cerebral vein morphology	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation		3
HP:0012480	HP:0012480	Abnormal cerebral vein morphology	0	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2		3
HP:0012480	HP:0012480	Abnormal cerebral vein morphology	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome		2
HP:0012480	HP:0012480	Abnormal cerebral vein morphology	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040284 - Very rare	45
HP:0012480	HP:0012480	Abnormal cerebral vein morphology	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome		82
HP:0012480	HP:0012480	Abnormal cerebral vein morphology	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation		88
HP:0012480	HP:0033723	Abnormal cerebral venous sinus morphology	1	CL E G H
HP:0012480	HP:0012481	Cerebral venous angioma	1	CL E G H
HP:0012480	HP:0030713	Vein of Galen aneurysmal malformation	1	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040284 - Very rare	6
HP:0012480	HP:0030713	Vein of Galen aneurysmal malformation	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	3
HP:0012480	HP:0030713	Vein of Galen aneurysmal malformation	1	EPHB4 CL E G H	2050	3395	OMIM:618196	Capillary malformation-arteriovenous malformation 2	HP:0040284 - Very rare	3
HP:0012480	HP:0030713	Vein of Galen aneurysmal malformation	1	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040284 - Very rare	2
HP:0012480	HP:0030713	Vein of Galen aneurysmal malformation	1	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040284 - Very rare	82
HP:0012480	HP:0030713	Vein of Galen aneurysmal malformation	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	88
HP:0012480	HP:0012482	Frontal venous angioma	2	CL E G H
HP:0012480	HP:0033724	Cerebral venous sinus thrombosis	2	CL E G H

Genes (7) :ALX4 EDN1 EPHB4 GNAI3 MSX2 PLCB4 RASA1

Diseases (4) :ORPHA:60015 ORPHA:137888 ORPHA:137667 OMIM:618196

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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