FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term infantile parkinsonism-dystonia 2 ID (Ontology) DOID:0070490 (Human Disease)
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.
Also Known As "Brain dopamine-serotonin vesicular transport disease" ; "PKDYS2"
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DO.org
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 Genes
 infantile parkinsonism-dystonia 2       1
 for disease ribbon | infantile parkinsonism-dystonia 2       1
 model of | infantile parkinsonism-dystonia 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
brain disease                    |
 |__movement disease_____________|
                                 infantile parkinsonism-dystonia 2  1 rec.
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Is a autosomal recessive disease
movement disease
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Synonyms
  • "Brain dopamine-serotonin vesicular transport disease" EXACT
    "PKDYS2" EXACT OMO:0003012
Secondary IDs
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GARD:13594
MIM:618049
SNOMEDCT_US_2023_03_01:717942003
UMLS_CUI:C4303546
UMLS_CUI:C4747991