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Ontology Browser

Term:
Shwachman-Diamond syndrome (DOID:0060479)
Annotations: Rat: (6) Mouse: (6) Human: (6) Chinchilla: (5) Bonobo: (5) Dog: (5) Squirrel: (5) Pig: (5)
Parent Terms Term With Siblings Child Terms
adiposis dolorosa 
Bone Marrow Failure Syndrome 1  
Bone Marrow Failure Syndrome 2  
Bone Marrow Failure Syndrome 3  
Bone Marrow Failure Syndrome 4  
Bone Marrow Failure Syndrome 5  
Bone Marrow Failure Syndrome 6  
Combined Exocrine Pancreatic Insufficiency 
diffuse lipomatosis 
Encephalocraniocutaneous Lipomatosis  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Familial Multiple Lipomatosis 
Hapnes Boman Skeie Syndrome 
IMAGEI Syndrome  
Jansen's metaphyseal chondrodysplasia  
Johanson-Blizzard syndrome  
mediastinal lipomatosis 
Metaphyseal Dysplasia without Hypotrichosis  
Metaphyseal Dysplasia, Braun-Tinschert Type 
multiple symmetric lipomatosis +  
Pancreatic Lipomatosis Duodenal Stenosis 
pelvic lipomatosis 
Pelvic Lipomatosis with Crossed Renal Ectopia 
Pierpont syndrome  
Schmid metaphyseal chondrodysplasia  
Shwachman-Diamond syndrome  
A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (DO)
Shwachman-Diamond Syndrome 2  
spondylometaphyseal dysplasia Kozlowski type  
steroid lipomatosis 

Synonyms
Exact Synonyms: SDS ;   SDS1 ;   Shwachman syndrome ;   Shwachman-Bodian syndrome ;   Shwachman-Bodian-Diamond syndrome ;   Shwachman-Diamond syndrome 1 ;   Shwachman-Diamond type metaphyseal dysplasia ;   Shwachman-Diamond-Oski syndrome ;   congenital lipomatosis of pancreas ;   metaphyseal chondrodysplasia, Shwachman type ;   pancreatic insufficiency and bone marrow dysfunction
Primary IDs: MESH:D000081003
Alternate IDs: DOID:0080023 ;   OMIM:260400
Xrefs: GARD:4863 ;   NCI:C61235 ;   OMIM:PS260400
Definition Sources: http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome "DO", https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/18356737 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22201042 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.