Human Phenotype Ontology 
..Starting node
..expandPanacinar emphysema (HP:0032967)help
Term ID: 32967
Name: Panacinar emphysema
Synonym:
Definition: Panacinar emphysema involves all portions of the acinus and secondary pulmonary lobule more or less uniformly. It predominates in the lower lobes and is the form of emphysema associated with1-antitrypsin deficiency. CT scans show a generalized decrease of the lung parenchyma with a decrease in the caliber of blood vessels in the affected lung. Severe panacinar emphysema may coexist and merge with severe centrilobular emphysema. The appearance of feature less decreased attenuation may be indistinguishable from severe constrictive obliterative bronchiolitis.
Comments:
Reference: HP:0032967
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:0032967HP:0032967Panacinar emphysema0SERPINA1 CL E G H52658941OMIM:613490Alpha-1-Antitrypsin deficiency131


Genes (1) :SERPINA1

Diseases (1) :OMIM:613490
 

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