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Metadata
ID DOID:0051084
PURL http://purl.obolibrary.org/obo/DOID_0051084 Copy
Name developmental and epileptic encephalopathy 112
Definition A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23.
https://pubmed.ncbi.nlm.nih.gov/36307226/
Xrefs

MIM:620537

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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