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Browse result for Acromesomelic dysplasia

※ introduction

    Acromesomelic dysplasia is a rare skeletal disorder that causes abnormal bone and cartilage development, leading to shortening of the forearms, lower legs, hands, feet, fingers, and toes. Five different genetic mutations have been implicated in the disorder. Treatment is individualized but is generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis.

Reference
Wiki: Acromesomelic dysplasia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD04433P205944882
NPR2
Atrial natriuretic peptide receptor 2
Homo sapiens
PTMD05117P430268200
GDF5
Growth/differentiation factor 5
Homo sapiens