| Disease ID | Source | Name | Description |
| 300770 | OMIM | Pulmonary surfactant metabolism dysfunction 4 (SMDP4) | A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. The disease is caused by variants affecting the gene represented in this entry. |