| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | Abnormal accumulation of surfactant-like, periodic acid-schiff-positive lipoproteinaceous material in macrophages within the alveolar spaces and distal bronchioles. This results in gas exchange impairment leading to dyspnea and alveolar infiltrates. (Human Phenotype Ontology, HP_0006517) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0006517 |
| Similar Terms | |
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5 genes associated with the alveolar proteinosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| ABCA3 | ATP-binding cassette, sub-family A (ABC1), member 3 |
| CSF2RB | colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) |
| SFTPB | surfactant protein B |
| SFTPC | surfactant protein C |
| SLC7A7 | solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 |
