Human Phenotype Ontology

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
..Absent pulmonary artery (HP:0004960)

Term ID:

4960

Name:

Absent pulmonary artery

Synonym:

Absent lung artery; Missing pulmonary artery

Definition:

A congenital defect with aplasia (absence) of one of the right or left pulmonary artery.

Comments:

Reference:

HP:0004960

Genes and Diseases:

Child Nodes:

Sister Nodes:

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 dilatation (HP:0004927)

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:0004960	HP:0004960	Absent pulmonary artery	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124

Genes (1) :CRTAP

Diseases (1) :OMIM:610682

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