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periventricular nodular heterotopia 6
Disease Summary
Associated Targets (1)
Tdark
1
Mondo Description Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene.
Uniprot Description A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy.
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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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615544
UMLS:C3809872
MONDO:0014240
High level summary of knowledge for a disease, including descriptions and datasource references.