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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C567771
OMIM:613073
UMLS:C2751322
MONDO:0013113
High level summary of knowledge for a disease, including descriptions and datasource references.