Search Ontology:
Human Disease

hypermanganesemia with dystonia 1

Term ID
DOID:0080536
Synonyms
Definition
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. https://www.ncbi.nlm.nih.gov/pubmed/22341972
References
Ontology
Human Disease   ( DOID:0080536 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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