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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
pulmonary alveolar proteinosis
Summary
- Definition
- A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange.
- Super Class
- lung disease
External Links
- Disease Ontology
- DOID:12120
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 12981 | Csf2 | colony stimulating factor 2 (granulocyte-macrophage) | |
| 12982 | Csf2ra | colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) | |
| 12983 | Csf2rb | colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) | |
| 12984 | Csf2rb2 | colony stimulating factor 2 receptor, beta 2, low-affinity (granulocyte-macrophage) | |
| 20388 | Sftpb | surfactant associated protein B | |
| 20390 | Sftpd | surfactant associated protein D | |
| 27410 | Abca3 | ATP-binding cassette, sub-family A member 3 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002789 | Tachypnea |
| HP:0001508 | Failure to thrive |
| HP:0006517 | Intraalveolar phospholipid accumulation |
| HP:0002098 | Respiratory distress |
| HP:0012418 | Hypoxemia |
| HP:0002093 | Respiratory insufficiency |
| HP:0005942 | Desquamative interstitial pneumonitis |
| HP:0001217 | Clubbing |
| HP:0002110 | Bronchiectasis |
