Disease association ontology term - MONDO:0044205 - Shwachman-Diamond syndrome 2
Term summary
- ID
- MONDO:0044205
- Name
- Shwachman-Diamond syndrome 2
- Ontology or CV name
- Disease association
- Definition
- Any Shwachman-Diamond syndrome in which the cause of the disease is a variation on the EFL1 gene, characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia.
