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DO Term : dystonia 22, juvenile-onset [DOID:0060966] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22.
  • synonyms:
  • OMIM:620453,
  • 620453
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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