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DO Term : early-onset dystonia and/or spastic paraplegia [DOID:0070445] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1.

synonyms:
OMIM:619681,
619681

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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