OBO ID: DOID:0080537
Term Name: hypermanganesemia with dystonia 2 Search Ontology:
Synonyms:
Definition: 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. https://www.ncbi.nlm.nih.gov/pubmed/27231142
References:
Ontology: Human Disease   ( DOID:0080537 )
Relationships
is a type of:
OTHER hypermanganesemia with dystonia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC39A14 Hypermanganesemia with dystonia 2 617013
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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