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Ontology Browser
Term:
isolated delta-storage pool disease (EFO:MONDO:0016630)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
alpha granule disease +  
autoimmune thrombocytopenic purpura 
autosomal dominant macrothrombocytopenia +  
congenital amegakaryocytic thrombocytopenia +  
congenital thrombotic thrombocytopenic purpura 
isolated delta-storage pool disease 
Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.
macrothrombocytopenia, isolated +  
syndromic constitutional thrombocytopenia +  
thrombocytopenia 1 
thrombocytopenia 12 with or without myopathy 
thrombocytopenia 2 
thrombocytopenia 3 
thrombocytopenia 4  
thrombocytopenia 5 
thrombocytopenia 7 
thrombocytopenia, X-linked, with or without dyserythropoietic anemia +  

Synonyms
Exact Synonyms: isolated delta-SPD ;   isolated dense-SPD ;   isolated dense-storage pool disease
Alternate IDs: MONDO:0016630
Xrefs: GARD:20674 ;   ORDO:248340 ;   icd11.foundation:2133567182
Definition Sources: Orphanet:248340

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