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Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 (MONDO:0014758)

Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene.

Overview

Category

Ontology ID

Internal:15749

Synonyms

MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

RUSAT2

radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM

radioulnar synostosis with amegakaryocytic thrombocytopenia 2

radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2

radioulnar synostosis with amegakaryocytic thrombocytopenia type 2

Mapped terms

GARD:0018069

MEDGEN:901732

OMIM:616738

UMLS:C4225221

Child terms

Unknown children.