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Disease Ontology Browser
infantile parkinsonism-dystonia 2 (DOID:0070490)
Alliance: disease page
Synonyms: Brain dopamine-serotonin vesicular transport disease; PKDYS2
Alt IDs: OMIM:618049, UMLS_CUI:C4303546, UMLS_CUI:C4747991
Definition: A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory