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obesity due to melanocortin 4 receptor deficiency
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description Melanocortin 4 receptor (MC4R) deficiency is the commonest form of monogenic obesity identified so far. MC4R deficiency is characterised by severe obesity, an increase in lean body mass and bone mineral density, increased linear growth in early childhood, hyperphagia beginning in the first year of life and severe hyperinsulinaemia, in the presence of preserved reproductive function.
Mondo Term and Equivalent IDs
MONDO:0019115: obesity due to melanocortin 4 receptor deficiency
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
NCIT:C120394
Orphanet:71529
SCTID:717269008
UMLS:C4273958
MONDO:0019115
High level summary of knowledge for a disease, including descriptions and datasource references.