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Ontology Browser
Term:
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 
macrothrombocytopenia, isolated +  
syndromic constitutional thrombocytopenia +  
thrombocytopenia 1 
thrombocytopenia 12 with or without myopathy 
thrombocytopenia 2 
An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.
thrombocytopenia 3 
thrombocytopenia 4  
thrombocytopenia 5 
thrombocytopenia 7 
thrombocytopenia, X-linked, with or without dyserythropoietic anemia +  

Synonyms
Exact Synonyms: thrombocytopenia type 2
Related Synonyms: THC2 ;   thrombocytopenia autosomal dominant 2
Alternate IDs: MONDO:0008555
Xrefs: GARD:5191 ;   MEDGEN:349976 ;   MESH:C536519 ;   MIM:188000 ;   NANDO:2200663 ;   NCI:C129035 ;   UMLS:C1861185
see_also: https://rarediseases.info.nih.gov/diseases/5191/thrombocytopenia-2" xsd:anyURI {source="GARD:0005191
Definition Sources: NCIT:C129035

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