Search Ontology:
Human Disease

hypermanganesemia with dystonia 2

Term ID
DOID:0080537
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 Pages
Alliance (1)
Genes Involved
Zebrafish Models
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