Human Phenotype Ontology 
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..expandParaseptal emphysema (HP:0033649)help
Term ID: 33649
Name: Paraseptal emphysema
Synonym: Distal acinar emphysema
Definition: Paraseptal emphysema is characterized by predominant involvement of the distal alveoli and their ducts and sacs. It is characteristically bounded by any pleural surface and the interlobular septa. This emphysema is characterized by subpleural and peribronchovascular regions of low attenuation separated by intact interlobular septa, sometimes associated with bullae.
Comments:
Reference: HP:0033649
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:0033649HP:0033649Paraseptal emphysema0ABCA3 CL E G H2133OMIM:610921Surfactant metabolism dysfunction, pulmonary, 3147


Genes (1) :ABCA3

Diseases (1) :OMIM:610921
 

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