multicentric osteolysis, nodulosis, and arthropathy
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0018298
multicentric osteolysis-nodulosis-arthropathy spectrum
is_a
Al-Aqeel Sewairi syndrome
exact
MONA
exact
MONA, MMP2-related
exact
NAO syndrome
exact
Torg syndrome
exact
Torg-Winchester syndrome
related
Winchester-Torg syndrome
exact
multicentric osteolysis, nodulosis and arthropathy, MMP2-related
exact
multicentric osteolysis, nodulosis, and arthropathy
exact
nodulosis-arthropathy-osteolysis syndrome
exact
osteolysis, hereditary multicentric
exact