Term ID: |
33209 |
Name: |
Acinar dysplasia |
Synonym: |
|
Definition: |
Arrest of lung development in the pseudoglandular stage (weeks 8 to 16 of human gestation) resulting in small sized lungs, predominantly composed of bronchial and bronchiolar structures embedded in abundant loose mesenchyme that is poorly vascularized. Acinar structures are essentially absent, with no significant formation of saccules and no alveoli. |
Comments: |
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Reference: |
HP:0033209 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0033209 | HP:0033209 | Acinar dysplasia | 0 | CL E G H | | | | | | | | | | |
Genes (0) :
Diseases (0) : |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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