Human Phenotype Ontology 
Grandparent Node:
expandAbnormal respiratory system morphology (HP:0012252)help
Parent Node:
expandAbnormal lung morphology (HP:0002088)help
..Starting node
..expandBronchogenic cyst (HP:0100730)help
Term ID: 100730
Name: Bronchogenic cyst
Synonym:
Definition: A rare congenital cystic lesion of the lungs in the mediastinum.
Comments:
Reference: HP:0100730
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal lung lobation (HP:0002101) help
..expandAbnormal pleura morphology (HP:0002103) help
..expandAbnormal pulmonary interstitial morphology (HP:0006530) help
..expandAbnormal pulmonary lymphatics (HP:0006529) help
..expandAbnormal subpleural morphology (HP:0031630) help
..expandAbnormality of the pulmonary vasculature (HP:0004930) help
..expandAplasia/Hypoplasia of the lungs (HP:0006703) help
..expandAtelectasis (HP:0100750) help
..expandBronchopulmonary sequestration (HP:0010960) help
..expandChronic lung disease (HP:0006528) help
..expandEmphysema (HP:0002097) help
..expandHemoptysis (HP:0002105) help
..expandHypersensitivity pneumonitis (HP:0006516) help
..expandIntraalveolar nodular calcifications (HP:0006514) help
..expandIntraalveolar phospholipid accumulation (HP:0006517) help
..expandLung abscess (HP:0025044) help
..expandMultiple pulmonary cysts (HP:0005948) help
..expandNeoplasm of the lung (HP:0100526) help
..expandPneumothorax (HP:0002107) help
..expandPulmonary edema (HP:0100598) help
..expandPulmonary fibrosis (HP:0002206) help
..expandPulmonary granulomatosis (HP:0030250) help
..expandPulmonary hemorrhage (HP:0040223) help
..expandPulmonary infiltrates (HP:0002113) help
..expandPulmonary opacity (HP:0031457) help
..expandPulmonary pneumatocele (HP:0025419) help
..expandRespiratory tract infection (HP:0011947) help
..expandUnilateral primary pulmonary dysgenesis (HP:0006549) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100730HP:0100730Bronchogenic cyst0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040282 - Frequent54
HP:0100730HP:0100730Bronchogenic cyst0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040282 - Frequent948
HP:0100730HP:0100730Bronchogenic cyst0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040283 - Occasional948


Genes (2) :AKT1 PTEN

Diseases (2) :ORPHA:744 ORPHA:2969
 

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