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porencephaly 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene.
Uniprot Description A neurologic disorder characterized by a fluid-filled cysts or cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and represents a primary defect in the development of the cerebral ventricles.
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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614483
UMLS:C3280970
MONDO:0013773
High level summary of knowledge for a disease, including descriptions and datasource references.