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 morphology of the great vessels (HP:0030962)

Grandparent Node:
Abnormal systemic arterial morphology (HP:0011004)

Parent Node:
Abnormal aortic morphology (HP:0001679)

..Starting node
..Aortopulmonary collateral arteries (HP:0031834)

Term ID:

31834

Name:

Aortopulmonary collateral arteries

Synonym:

Definition:

Small ectopic arteries or arterial branches that connect the aorta, aortic branches and/or subclavian artery regions directly to the lung parenchyma, usually seen in conjunction with pulmonary atresia, ventricular septal defect (VSD) and/or closed ductus arteriosus.

Comments:

Reference:

HP:0031834

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal aortic arch morphology (HP:0012303)

Abnormal ascending aorta morphology (HP:0031784)

Aortic aneurysm (HP:0004942)

Aortic atherosclerotic lesion (HP:0012397)

Aortic dissection (HP:0002647)

Aortic rupture (HP:0031649)

Aortic tortuosity (HP:0006687)

Aorto-ventricular tunnel (HP:0011627)

Calcification of the aorta (HP:0004963)

Coarctation of aorta (HP:0001680)

Coated aorta (HP:0025494)

Descending aorta hypoplasia (HP:0025495)

Mucoid extracellular matrix accumulation (HP:0200146)

Overriding aorta (HP:0002623)

Penetrating aortic ulcer (HP:0031648)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031834	HP:0031834	Aortopulmonary collateral arteries	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0031834	HP:0031834	Aortopulmonary collateral arteries	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7	90
HP:0031834	HP:0031834	Aortopulmonary collateral arteries	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	28
HP:0031834	HP:0031834	Aortopulmonary collateral arteries	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	3
HP:0031834	HP:0031834	Aortopulmonary collateral arteries	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	7

Genes (5) :ALDH1A2 FLT4 GDF1 PKD1L1 YY1

Diseases (5) :OMIM:620025 OMIM:618780 OMIM:208530 OMIM:617205 OMIM:617557

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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