Shwachman-Diamond syndrome
(Q1970052)
syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities
syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities
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Current Data About
Shwachman-Diamond syndrome
| (P31) |
(Q55788864)
(Q929833) (Q112193867) |
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| (P279) |
(Q179630)
(Q7130407)
(Q55785598)
(Q55785861)
(Q55785832)
(Q55788805)
(Q98713408) (Q12136) |
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| (P1748) |
C61235
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| (P1995) |
(Q1071953)
|
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| (P2293) |
(Q18040018)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0060479
http://identifiers.org/doid/DOID:0060479
http://www.orpha.net/ORDO/Orphanet_811 |
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| (P5008) |
(Q4099686)
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other details
| aliases |
Shwachman-Bodian-Diamond syndrome Shwachman syndrome pancreatic insufficiency and bone marrow dysfunction Schwachman Diamond type metaphyseal dysplasia Shwachman-Bodian Syndrome SDS SHWACHMAN-DIAMOND SYNDROME Schwachmann-Diamond Syndrome SHWACHMAN-DIAMOND SYNDROME; SDS Congenital lipomatosis of pancreas Lipomatosis of Pancreas, Congenital |
| description | syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities |
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