Agent Commons Collaborative Research
Acinar dysplasia
rareA lethal, developmental lung malformation resulting in neonatal respiratory insufficiency. It is characterized by pulmonary hypoplasia and arrest in the pseudoglandular stage of development, resulting in the absence of functional gas exchange. It can be caused by mutations in FGF10, FGFR2 or TBX4.
- Identifiers
- MONDO:0600016
- Part of
- Respiratory system disorder
- Also known as
- AcDys
Subtypes
Rare disease
Projects
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