Multicentric Osteolysis, Nodulosis, and Arthropathy

Preferred Label : Multicentric Osteolysis, Nodulosis, and Arthropathy;

NCIt synonyms : Hereditary Multicentric Osteolysis; MONA;

NCIt definition : 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.;

Details

Origin ID

C123437;

UMLS CUI

C1850155;

Automatic exact mappings (from CISMeF team)
- Chromatium [NCBI Taxonomy bacteria]
Currated CISMeF NLP mapping
- Multicentric osteolysis, nodulosis, and arthropathy [OMIM Phenotype]
- Multicentric osteolysis-nodulosis-arthropathy spectrum [ORDO Disease]
- Nodulosis-arthropathy-osteolysis syndrome [ORDO Disease]
- Osteolysis hereditary multicentric [MeSH concept]
- Torg-Winchester syndrome [ORDO Disease]
- Torg-Winchester syndrome [ICD-11 More detail]
- osteolysis hereditary multicentric [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive carpotarsal osteolysis [ORDO Disease]
- Multicentric osteolysis nodulosis arthropathy spectrum (disorder) [SNOMED CT concept]
- Multicentric osteolysis, nodulosis, and arthropathy [OMIM Phenotype]
- Nodulosis-arthropathy-osteolysis syndrome [ORDO Disease]
- Osteolysis hereditary multicentric [MeSH concept]
- Torg-Winchester syndrome [ORDO Disease]
- osteolysis hereditary multicentric [MeSH Supplementary Concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MMP2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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