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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease thrombocytopenia
Comorbidity C0158761|radioulnar synostosis
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PubMedID- 25881986 Individual mutations in some hoxa genes as hoxa1, hoxa2, hoxa11, and hoxa13 are known to cause respectively athabaskan brainstem dysgenesis syndrome (omim #601536), microtia, hearing impairment and cleft palate (omim #612290), radioulnar synostosis with amegakaryocytic thrombocytopenia (omim #605432), and hand-foot-genital syndrome (hfgs, omim#140000) or guttmacher syndrome (gutts omim #176305) [1].

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