" /> Chondrodysplasia Punctata - CISMeF





Preferred Label : Chondrodysplasia Punctata;

NCIt related terms : Chondrodysplasia Punctata (Stippled Epiphyses) Group;

NCIt definition : A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.;

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30/07/2025


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