eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | pancytopenia |
| Comorbidity | C0030293|pancreatic insufficiency |
| Sentences | 2 |
| PubMedID- 21486516 | The shwachman-diamond syndrome is an autosomal recessive bone marrow failure syndrome with exocrine pancreatic insufficiency. |
| PubMedID- 21803848 | Shwachman-diamond syndrome (sds), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, skeletal abnormalities and poor growth, is caused by mutations in the highly conserved sbds gene. |
Page: 1