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DO Term : hyperekplexia 3 [DOID:0060698] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.

synonyms:
ORDO:3197,
614618,
HKPX3,
OMIM:614618,
ICD10CM:G25.8

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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