Human Phenotype Ontology 
..Starting node
..expandPulmonary bleb (HP:0032447)help
Term ID: 32447
Name: Pulmonary bleb
Synonym:
Definition: A bleb is a small gas-containing space within the visceral pleura or in the subpleural lung, not larger than 1 cm in diameter. CT findings show a bleb as a thin-walled cystic air space contiguous with the pleura.
Comments:
Reference: HP:0032447
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:0032447HP:0032447Pulmonary bleb0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0032447HP:0032447Pulmonary bleb0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749
HP:0032447HP:0032447Pulmonary bleb0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0032447HP:0032447Pulmonary bleb0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60


Genes (4) :APC2 COL3A1 NSD1 SETD2

Diseases (2) :ORPHA:821 OMIM:130050
 

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