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Browse result for Hypertrichotic osteochondrodysplasia

※ introduction

    Cant¨² syndrome is a rare condition characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly.[6][5] Less than 50 cases have been described in the literature; they are associated with a mutation in the ABCC9-gene that codes for the ABCC9-protein.[5]

Reference
Wiki: Hypertrichotic osteochondrodysplasia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02927O6070610060
ABCC9
ATP-binding cassette sub-family C member 9
Homo sapiens
PTMD07043Q158423764
KCNJ8
ATP-sensitive inward rectifier potassium channel 8 channel Kir6.1)
Homo sapiens