Human Phenotype Ontology 
Grandparent Node:
expandAbnormal pulmonary artery morphology (HP:0030966)help
Parent Node:
expandPulmonary artery dilatation (HP:0004927)help
..Starting node
..expandPulmonary artery aneurysm (HP:0004937)help
Term ID: 4937
Name: Pulmonary artery aneurysm
Synonym:
Definition: An aneurysm (severe localized balloon-like outward bulging) in the pulmonary artery.
Comments:
Reference: HP:0004937
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0004937HP:0004937Pulmonary artery aneurysm0BGN CL E G H6331044OMIM:300989Meester-Loeys syndromeHP:0040283 - Occasional7
HP:0004937HP:0004937Pulmonary artery aneurysm0COL3A1 CL E G H12812201ORPHA:286Vascular Ehlers-Danlos syndromeHP:0040283 - Occasional749
HP:0004937HP:0004937Pulmonary artery aneurysm0COL5A1 CL E G H12892209OMIM:619329FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF660
HP:0004937HP:0004937Pulmonary artery aneurysm0EFEMP2 CL E G H300083219OMIM:614437Cutis laxa, autosomal recessive, type IB.45
HP:0004937HP:0004937Pulmonary artery aneurysm0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0004937HP:0004937Pulmonary artery aneurysm0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0004937HP:0004937Pulmonary artery aneurysm0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253


Genes (7) :BGN COL3A1 COL5A1 EFEMP2 IPO8 TGFBR1 TGFBR2

Diseases (7) :OMIM:300989 ORPHA:286 OMIM:619329 OMIM:614437 OMIM:619472 OMIM:609192 OMIM:610168
 

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