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pancreatic insufficiency-anemia-hyperostosis syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.
Uniprot Description Patients present with pancreatic insufficiency, intestinal malabsorption, failure to thrive, and anemia soon after birth.
Mondo Term and Equivalent IDs
MONDO:0012992:  pancreatic insufficiency-anemia-hyperostosis syndrome
MESH:C567195: 
Orphanet:199337: 
SCTID:722207000: 
UMLS:C2675184: 
UMLS:C4302747: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found