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mesomelia-synostoses syndrome
Disease Summary
Associated Targets ()
Mondo Description Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.
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.
GARD:0004302
MESH:C537348
OMIM:600383
Orphanet:2496
SCTID:724147004
UMLS:C1838162
MONDO:0010881
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.