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 pulmonary vasculature (HP:0004930)

Parent Node:
Arteriovenous malformation (HP:0100026)

..Starting node
..Pulmonary arteriovenous malformation (HP:0006548)

Term ID:

6548

Name:

Pulmonary arteriovenous malformation

Synonym:

Pulmonary AV malformation

Definition:

Pulmonary arteriovenous malformation, a condition most commonly associated with hereditary hemorrhagic telangiectasia, is an abnormal communication between the pulmonary artery and pulmonary vein without an intervening capillary communication. HRCT images usually show a coarse spidery appearance of the peripheral vascular markings in the lungs. More specific findings are obtained in the pulmonary angiogram where the normally invisible capillary phase is replaced by irregular vascular channels bridging the peripheral branches of pulmonary arteries and veins.

Comments:

Reference:

HP:0006548

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)

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:0006548	HP:0006548	Pulmonary arteriovenous malformation	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.	178
HP:0006548	HP:0006548	Pulmonary arteriovenous malformation	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7		11
HP:0006548	HP:0006548	Pulmonary arteriovenous malformation	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0006548	HP:0006548	Pulmonary arteriovenous malformation	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome		504

Genes (4) :ACVRL1 CAV1 ENG SMAD4

Diseases (4) :OMIM:600376 OMIM:606721 OMIM:187300 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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