Disease ID | Source | Name | Description |
606054 | OMIM | Propionic acidemia type I (PA-1) | Life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein. The disease is caused by variants affecting the gene represented in this entry. |