You are using an outdated browser. Please upgrade your browser to improve your experience.
MMEP syndrome
Disease Summary
Associated Targets ()
Mondo Description A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.
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:0003693
MESH:C537686
OMIM:601349
Orphanet:3434
SCTID:715533002
UMLS:C1832440
UMLS:C4275099
MONDO:0011045
High level summary of knowledge for a disease, including descriptions and datasource references.