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Mononen-Karnes-Senac syndrome
Disease Summary
Associated Targets ()
Mondo Description Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.
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.
DOID:0110973
GARD:0004886
MESH:C535914
OMIM:301940
Orphanet:2565
SCTID:733095006
UMLS:C2931060
MONDO:0010538
High level summary of knowledge for a disease, including descriptions and datasource references.