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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 |
|---|---|---|---|
| 21 | ABCA3 | ATP binding cassette subfamily A member 3 | |
| 1437 | CSF2 | colony stimulating factor 2 | |
| 1438 | CSF2RA | colony stimulating factor 2 receptor subunit alpha | |
| 1439 | CSF2RB | colony stimulating factor 2 receptor subunit beta | |
| 1672 | DEFB1 | defensin beta 1 | |
| 4141 | MARS1 | methionyl-tRNA synthetase 1 | |
| 6439 | SFTPB | surfactant protein B | |
| 6440 | SFTPC | surfactant protein C | |
| 6441 | SFTPD | surfactant protein D | |
| 653509 | SFTPA1 | surfactant protein A1 |
| 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:0002094 | Dyspnea |
| HP:0006515 | Interstitial pneumonitis |
| HP:0001263 | Global developmental delay |
| HP:0012735 | Cough |
| HP:0002206 | Pulmonary fibrosis |
| HP:0000961 | Cyanosis |
| HP:0002878 | Respiratory failure |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0006532 | Recurrent pneumonia |
| HP:0002108 | Spontaneous pneumothorax |
