" /> Epiphyseal dysplasia, multiple, 5 - CISMeF





Preferred Label : Epiphyseal dysplasia, multiple, 5;

Symbol : EDM5;

CISMeF acronym : BHMED; EDM5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Multiple epiphyseal dysplasia, matn3-related; Microepiphyseal dysplasia, bilateral hereditary; BHMED;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the matrilin 3 gene (MATN3, 602109.0001);

Prefixed ID : #607078;

Details


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03/05/2025


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