Human Phenotype Ontology 
..Starting node
..expandCongenital alveolar dysplasia (HP:0033210)help
Term ID: 33210
Name: Congenital alveolar dysplasia
Synonym:
Definition: Arrest of lung development in the cananicular stage (weeks 18 to 26 of human gestation) resulting in simplified acinar spaces, frequently with abundant intervening mesenchyme and no alveoli. In later arrest growth stages early saccular formations may be seen. May resemble the lobular maldevelopment often seen in alveolar capillary dysplasia/misaligment of the pulmonary veins without vein misalignment or marked hypertensive changes of the pulmonary arteries.
Comments:
Reference: HP:0033210
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:0033210HP:0033210Congenital alveolar dysplasia0WT1 CL E G H749012796OMIM:608978MEACHAM SYNDROME177


Genes (1) :WT1

Diseases (1) :OMIM:608978
 

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