Human Phenotype Ontology 
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..expandCongenital lobar overinflation (HP:0033255)help
Term ID: 33255
Name: Congenital lobar overinflation
Synonym: Congenital lobar emphysema
Definition: A congenital malformation characterized by an overdistended segment of lung, affecting an party of a lobe or the entire one. It results in progressive overinflation of one or more lobes.
Comments:
Reference: HP:0033255
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:0033255HP:0033255Congenital lobar overinflation0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation7


Genes (1) :MEIS2

Diseases (1) :OMIM:600987
 

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