hyperekplexia 4 Disease Ontology Browser

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Disease Ontology Browser

hyperekplexia 4 (DOID:0080581)
Alliance: disease page
Alt IDs: OMIM:618011
Definition: A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appeareance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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