" /> Acromesomelic dysplasia 3 - CISMeF





Preferred Label : Acromesomelic dysplasia 3;

Symbol : AMD3;

CISMeF acronym : AMDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chondrodysplasia, acromesomelic, with or without genital anomalies; AMDD; Acromesomelic dysplasia, demirhan type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the bone morphogenetic protein receptor, type 1B gene (BMPR1B, 603248.0003);

Prefixed ID : #609441;

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25/07/2025


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