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DO Term : hypermanganesemia with dystonia 2 [DOID:0080537] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21.
  • synonyms:
  • 617013,
  • OMIM:617013
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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