Multicentric Osteolysis, Nodulosis, and Arthropathy
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http://purl.obolibrary.org/obo/NCIT_C123437
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. [ ]
Term info
Label
Multicentric Osteolysis, Nodulosis, and Arthropathy
Synonyms
- MONA
- Multicentric Osteolysis, Nodulosis, and Arthropathy
- Torg-Winchester Syndrome
Preferred Name
Multicentric Osteolysis, Nodulosis, and Arthropathy
Semantic Type
Disease or Syndrome
UMLS CUI
C1850155
code
C123437