OBO ID: DOID:0080536
Term Name: hypermanganesemia with dystonia 1 Search Ontology:
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 )
OTHER hypermanganesemia with dystonia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC30A10 Hypermanganesemia with dystonia 1 613280
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None