Additional Disease Briefs

NORD Summit 2026 Banner Ad


spondyloepimetaphyseal dysplasia, Genevieve type

Also known as: Nans deficiency, SEMD Genevieve type, SEMD, Genevieve type, SEMD, Geneviève type, SEMDG, spondyloepimetaphyseal dysplasia Genevieve type, spondyloepimetaphyseal dysplasia, Camera-Genevieve type, spondyloepimetaphyseal dysplasia, Genevieve type, spondyloepimetaphyseal dysplasia, Geneviève type






spondyloepimetaphyseal dysplasia, Maroteaux type

Also known as: SED, Maroteaux type, brachyolmia Maroteaux type, pseudo-Morquio syndrome type 2, pseudo-Morquio syndrome, type 2, spondyloepimetaphyseal dysplasia, Maroteaux type, spondyloepiphyseal dysplasia Maroteaux type, spondyloepiphyseal dysplasia, Maroteaux type


spondyloepimetaphyseal dysplasia, matrilin-3 type

Also known as: SEMD MATN3-related, SEMD, MATN3-related, SEMD, matrilin-3 type, spondyloepimetaphyseal dysplasia matrilin-3 related, spondyloepimetaphyseal dysplasia matrilin-3 type, spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type, spondyloepimetaphyseal dysplasia, matrilin-3 related


spondyloepimetaphyseal dysplasia, Missouri type

Also known as: Missouri type of spondyloepimetaphyseal dysplasia, SEMD Missouri type, SEMD type 2, SEMD, Missouri type, metaphyseal anadysplasia 1, spondyloepimetaphyseal dysplasia Missouri type, spondyloepimetaphyseal dysplasia type 2, spondyloepimetaphyseal dysplasia, Missouri type


spondyloepimetaphyseal dysplasia, PAPSS2 type

Also known as: BCYM4, SEMD, Pakistani type, brachyolmia 4 with mild epiphyseal and metaphyseal changes, brachyolmia type 4 with mild epiphyseal and metaphyseal changes, spondylodysplasia and premature pubarche, spondyloepimetaphyseal dysplasia Pakistani type, spondyloepimetaphyseal dysplasia, Pakistani type