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Browse result for Osteootohepatoenteric syndrome

※ introduction

    Osteootohepatoenteric syndrome (OOHE) is characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Some patients also display mild developmental delay and intellectual disability (Esteve et al., 2018).

Reference
OMIM: Osteootohepatoenteric syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD12754Q9H3U155898
UNC45A
Protein unc-45 homolog A
Homo sapiens