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General Information
ZIRC
OBO ID: DOID:0060479
Term Name: Shwachman-Diamond syndrome Search Ontology:
Synonyms:
  • pancreatic insufficiency and bone marrow dysfunction
  • Shwachman syndrome
  • Shwachman-Bodian-Diamond syndrome
Definition: A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (4)
References:
Ontology: Human Disease   (DOID:0060479)
Relationships
is a type of:
OTHER Shwachman-Diamond syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SBDS Shwachman-Diamond syndrome 260400
PHENOTYPE No data available

CITATIONS (3)