Disease ID | Source | Name | Description |
178500 | OMIM | Pulmonary fibrosis, idiopathic (IPF) | A lung disease characterized by shortness of breath, radiographically evident diffuse pulmonary infiltrates, and varying degrees of inflammation and fibrosis on biopsy. In some cases, the disorder can be rapidly progressive and characterized by sequential acute lung injury with subsequent scarring and end-stage lung disease. Disease susceptibility is associated with variants affecting the gene represented in this entry. |
267450 | OMIM | Respiratory distress syndrome in premature infants (RDS) | A lung disease affecting usually premature newborn infants. It is characterized by deficient gas exchange, diffuse atelectasis, high-permeability lung edema and fibrin-rich alveolar deposits called 'hyaline membranes'. Disease susceptibility may be associated with variants affecting the gene represented in this entry. The association between SFTPA1 alleles and respiratory distress syndrome in premature infants is dependent on a variation Ile to Thr at position 131 in SFTPB. |