Human Phenotype Ontology

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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 vascular morphology (HP:0025015)

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

Parent Node:
Arteriovenous malformation (HP:0100026)

..Starting node
..Cerebral arteriovenous malformation (HP:0002408)

Term ID:

2408

Name:

Cerebral arteriovenous malformation

Synonym:

Cerebral AV malformation

Definition:

An anomalous configuration of blood vessels that shunts arterial blood directly into veins without passing through the capillaries and that is located in the brain.

Comments:

Reference:

HP:0002408

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arteriovenous fistula (HP:0004947)

Gastrointestinal arteriovenous malformation (HP:0002629)

Hepatic arteriovenous malformation (HP:0006574)

Pelvic arteriovenous malformation (HP:0031344)

Pulmonary arteriovenous malformation (HP:0006548)

Spinal arteriovenous malformation (HP:0002390)

Uterine arteriovenous malformation (HP:0031347)

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:0002408	HP:0002408	Cerebral arteriovenous malformation	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002408	HP:0002408	Cerebral arteriovenous malformation	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0002408	HP:0002408	Cerebral arteriovenous malformation	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	3
HP:0002408	HP:0002408	Cerebral arteriovenous malformation	0	IL6 CL E G H	3569	6018	OMIM:108010	ARTERIOVENOUS MALFORMATIONS OF THE BRAIN		2
HP:0002408	HP:0002408	Cerebral arteriovenous malformation	0	KRAS CL E G H	3845	6407	OMIM:108010	ARTERIOVENOUS MALFORMATIONS OF THE BRAIN		196
HP:0002408	HP:0002408	Cerebral arteriovenous malformation	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040283 - Occasional	88
HP:0002408	HP:0002408	Cerebral arteriovenous malformation	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88
HP:0002408	HP:0002408	Cerebral arteriovenous malformation	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504

Genes (7) :ACVRL1 ENG EPHB4 IL6 KRAS RASA1 SMAD4

Diseases (6) :OMIM:600376 OMIM:187300 ORPHA:137667 OMIM:108010 ORPHA:90307 OMIM:175050

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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