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 vascular morphology (HP:0025015)

Parent Node:
Abnormality of the spinal cord (HP:0002143)

Parent Node:
Arteriovenous malformation (HP:0100026)

..Starting node
..Spinal arteriovenous malformation (HP:0002390)

Term ID:

2390

Name:

Spinal arteriovenous malformation

Synonym:

Definition:

Comments:

Reference:

HP:0002390

Genes and Diseases:

Child Nodes:

Sister Nodes:

Arteriovenous fistula (HP:0004947)

Cerebral arteriovenous malformation (HP:0002408)

Gastrointestinal arteriovenous malformation (HP:0002629)

Hepatic arteriovenous malformation (HP:0006574)

Pelvic arteriovenous malformation (HP:0031344)

Pulmonary arteriovenous malformation (HP:0006548)

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:0002390	HP:0002390	Spinal arteriovenous malformation	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0002390	HP:0002390	Spinal arteriovenous malformation	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002390	HP:0002390	Spinal arteriovenous malformation	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040283 - Occasional	88

Genes (3) :ACVRL1 ENG RASA1

Diseases (3) :OMIM:600376 OMIM:187300 ORPHA:90307

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