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DO Term : hyperekplexia 2 [DOID:0060697] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.

synonyms:
614619,
ICD10CM:G25.8,
HKPX2,
ORDO:3197,
OMIM:614619

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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