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Ontology Browser

Term:
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis (DOID:9005288)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1) Naked Mole-rat: (1) Green Monkey: (1)
Parent Terms Term With Siblings Child Terms
Combined Exocrine Pancreatic Insufficiency 
congenital dyserythropoietic anemia type I +   
congenital dyserythropoietic anemia type II  
congenital dyserythropoietic anemia type IIIa  
congenital dyserythropoietic anemia type IIIb  
congenital dyserythropoietic anemia type IVa  
congenital dyserythropoietic anemia type IVb  
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis  
Johanson-Blizzard syndrome  
Majeed Syndrome  
Shwachman-Diamond syndrome  
Shwachman-Diamond Syndrome 2  
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia  

Synonyms
Exact Synonyms: COX4I2-RELATED CONDITION ;   Pancreatic insufficiency-anemia-hyperostosis syndrome
Xrefs: GARD:17095 ;   MESH:C567195 ;   MIM:612714 ;   MONDO:0012992

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