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multicentric osteolysis, nodulosis, and arthropathy

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.
Uniprot Description An autosomal recessive syndrome characterized by severe multicentric osteolysis with predominant involvement of the hands and feet. Additional features include coarse face, corneal opacities, patches of thickened, hyperpigmented skin, hypertrichosis and gum hypertrophy.
Mondo Term and Equivalent IDs
MONDO:0009809:  multicentric osteolysis, nodulosis, and arthropathy
NCIT:C123437: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found