Human Phenotype Ontology 
..Starting node
..expandPulmonary bulla (HP:0032446)help
Term ID: 32446
Name: Pulmonary bulla
Synonym: Pulmonary bullae
Definition: Pulmonary bullae are rounded focal regions of emphysema with a thin wall which measure more than 1 cm in diameter. They are often subpleural in location and are typically larger in the apices. In some cases, bullae can be very large and result in compression of adjacent lung tissue. A giant bulla is arbitrarily defined as one that occupies at least one third of the volume of a hemithorax. When large, bullae can simulate pneumothorax. The most common cause is paraseptal emphysema but bullae may also be seen in association with centrilobular emphysema.
Comments:
Reference: HP:0032446
Genes and Diseases:
 
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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032446HP:0032446Pulmonary bulla0CARD10 CL E G H2977516422OMIM:619632IMMUNODEFICIENCY 89 AND AUTOIMMUNITY; IMD895
HP:0032446HP:0032446Pulmonary bulla0COL3A1 CL E G H12812201OMIM:130050Ehlers-Danlos syndrome, Vascular type749


Genes (2) :CARD10 COL3A1

Diseases (2) :OMIM:619632 OMIM:130050
 

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