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DO Term : hypermanganesemia with dystonia 1 [DOID:0080536] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41.
  • synonyms:
  • OMIM:613280,
  • 613280
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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