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familial omphalocele syndrome with facial dysmorphism
Disease Summary
Associated Targets ()
Mondo Description Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.
Mondo Term and Equivalent IDs
MONDO:0017235: familial omphalocele syndrome with facial dysmorphism
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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.
Orphanet:280403
UMLS:CN202726
MONDO:0017235
High level summary of knowledge for a disease, including descriptions and datasource references.