You are using an outdated browser. Please upgrade your browser to improve your experience.
polymicrogyria with optic nerve hypoplasia
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Polymicrogyria with optic nerve hypoplasia is a rare genetic syndrome with central nervous system malformations characterized by severe developmental delay, neonatal hypotonia, seizures, optic nerve hypoplasia and distinct central nervous system malformations including extensive bilateral polymicrogyria, dysplastic or absent corpus callosum and malformed brainstem with loss of demarcation of the pontomedullary junction.
Uniprot Description A disease characterized by extensive polymicrogyria, optic nerve hypoplasia, severe developmental delay, hypotonia, seizures, a dysplastic or absent corpus callosum and colpocephaly. Polymicrogyria is a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization.
Mondo Term and Equivalent IDs
MONDO:0013172: polymicrogyria with optic nerve hypoplasia
Download Data for polymicrogyria with optic nerve hypoplasia
data still loading...
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.
MESH:C567715
OMIM:613180
Orphanet:250972
UMLS:C2750798
MONDO:0013172
High level summary of knowledge for a disease, including descriptions and datasource references.