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Metadata
ID DOID:0061246
PURL http://purl.obolibrary.org/obo/DOID_0061246 Copy
Name periventricular nodular heterotopia 9
Definition A congenital nervous system abnormality characterized as a malformation of cortical development that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13.
https://pubmed.ncbi.nlm.nih.gov/29738522/
Xrefs

MIM:618918

Parent Relationships

is_a autosomal dominant disease

is_a periventricular nodular heterotopia

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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