" /> Spondyloepimetaphyseal dysplasia, missouri type - CISMeF





Preferred Label : Spondyloepimetaphyseal dysplasia, missouri type;

Symbol : SEMDM;

CISMeF acronym : MANDP1; SEMDM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Semd, missouri type;

Included titles and symbols : Metaphyseal anadysplasia 1; MANDP1;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the matrix metalloproteinase-13 gene (MMP13, 600108.0001).;

Prefixed ID : #602111;

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27/07/2025


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