Agent Commons Collaborative Research
Shwachman-Diamond syndrome 2
rareAny 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.
- Identifiers
- MONDO:0044205 OMIM:617941
- Causal genes
- EFL1
- Part of
- Shwachman-Diamond syndrome
- Also known as
- EFL1-related Shwachman-Diamond syndrome · SDS2
Projects
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