Search Ontology:
Human Disease

hyperekplexia 4

Term ID
DOID:0080581
Synonyms
Definition
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. https://www.ncbi.nlm.nih.gov/pubmed/29390050
References
Ontology
Human Disease   ( DOID:0080581 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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