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DO Term : hyperekplexia 4 [DOID:0080581] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23.

synonyms:
OMIM:618011,
618011

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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