| Metadata | |
|---|---|
| ID | DOID:0061070 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061070 Copy |
| Name | immunodeficiency 100 |
| Definition | A primary immunodeficiency disease that is characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis in the first months of life and that has_material_basis_in heterozygous mutation in the OAS1 gene on chromosome 12q24. https://pubmed.ncbi.nlm.nih.gov/34145065/ |
| Xrefs | |
| Synonyms |
immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia [EXACT] |
| Parent Relationships |
is_a lung disease |