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:
Abnormality of the pulmonary artery (HP:0004414)

Parent Node:
Abnormal pulmonary artery morphology (HP:0030966)

..Starting node
..Pulmonary artery dilatation (HP:0004927)

Term ID:

4927

Name:

Pulmonary artery dilatation

Synonym:

Definition:

An abnormal widening of the diameter of the pulmonary artery.

Comments:

Reference:

HP:0004927

Genes and Diseases:

Child Nodes:

........

Pulmonary artery aneurysm (HP:0004937)

Sister Nodes:

Absent pulmonary artery (HP:0004960)

Anomalous origin of one pulmonary artery from ascending aorta (HP:0011660)

Pulmonary arterial atherosclerosis (HP:0031272)

Pulmonary arterial medial hypertrophy (HP:0004964)

Pulmonary artery atresia (HP:0004935)

Pulmonary artery hypoplasia (HP:0004971)

Pulmonary artery sling (HP:0004961)

Pulmonary artery stenosis (HP:0004415)

Pulmonary aterial intimal fibrosis (HP:0005312)

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:0004927	HP:0004927	Pulmonary artery dilatation	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome		7
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent	6
HP:0004927	HP:0004927	Pulmonary artery dilatation	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0004927	HP:0004937	Pulmonary artery aneurysm	1	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional	7
HP:0004927	HP:0004937	Pulmonary artery aneurysm	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0004927	HP:0004937	Pulmonary artery aneurysm	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0004927	HP:0004937	Pulmonary artery aneurysm	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	.	45
HP:0004927	HP:0004937	Pulmonary artery aneurysm	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004927	HP:0004937	Pulmonary artery aneurysm	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0004927	HP:0004937	Pulmonary artery aneurysm	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253

Genes (13) :ACTA2 ADAMTS19 BGN COL3A1 COL5A1 EFEMP2 FBN1 FOXF1 IPO8 TGFBR1 TGFBR2 TLL1 TTC26

Diseases (13) :OMIM:613834 OMIM:620067 OMIM:300989 ORPHA:286 OMIM:619329 OMIM:614437 OMIM:154700 OMIM:265380 OMIM:619472 OMIM:609192 OMIM:610168 ORPHA:99106 OMIM:619534

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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