| Metadata | |
|---|---|
| ID | DOID:0060479 |
| Name | Shwachman-Diamond syndrome |
| Definition | A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome, https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome, https://www.ncbi.nlm.nih.gov/pubmed/18356737, https://www.ncbi.nlm.nih.gov/pubmed/22201042 |
| Xrefs | |
| Alternateids |
DOID:0080023 |
| Subsets |
DO_rare_slim |
| Synonyms |
pancreatic insufficiency and bone marrow dysfunction [EXACT] Shwachman syndrome [EXACT] Shwachman-Bodian-Diamond syndrome [EXACT] Shwachman-Diamond type metaphyseal dysplasia [EXACT] |
| Parent Relationships |
is_a syndrome |