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metaphyseal anadysplasia 2

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any metaphyseal anadysplasia in which the cause of the disease is a mutation in the MMP9 gene.
Uniprot Description A bone development disorder characterized by skeletal anomalies that resolve spontaneously with age. Clinical characteristics are evident from the first months of life and include slight shortness of stature and a mild varus deformity of the legs. Patients attain a normal stature in adolescence and show improvement or complete resolution of varus deformity of the legs and rhizomelic micromelia.
Mondo Term and Equivalent IDs
MONDO:0013113:  metaphyseal anadysplasia 2
MESH:C567771: 
UMLS:C2751322: