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partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Disease Summary
Associated Targets ()
Mondo Description Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome is a rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts.
Mondo Term and Equivalent IDs
MONDO:0018430: partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
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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:401959
UMLS:CN226145
MONDO:0018430
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