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 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 aterial intimal fibrosis (HP:0005312)

Term ID:

5312

Name:

Pulmonary aterial intimal fibrosis

Synonym:

Definition:

Formation of excess fibrous connective tissue in the tunica intima (innermost layer) of arteries in the pulmonary circulation.

Comments:

Reference:

HP:0005312

Genes and Diseases:

Child Nodes:

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 dilatation (HP:0004927)

Pulmonary artery hypoplasia (HP:0004971)

Pulmonary artery sling (HP:0004961)

Pulmonary artery stenosis (HP:0004415)

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:0005312	HP:0005312	Pulmonary aterial intimal fibrosis	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1	HP:0040282 - Frequent	525

Genes (1) :BMPR2

Diseases (1) :OMIM:178600

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