Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618049
http://purl.bioontology.org/ontology/OMIM/618049
Preferred Name

PARKINSONISM-DYSTONIA 2, INFANTILE-ONSET
Synonyms
BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE
PKDYS2
BRAIN MONOAMINE VESICULAR TRANSPORT DISEASE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE
PKDYS2
BRAIN MONOAMINE VESICULAR TRANSPORT DISEASE
prefLabel
PARKINSONISM-DYSTONIA 2, INFANTILE-ONSET
Gene Symbol
VAT2
PKDYS2
SVMT
SLC18A2
Scope Statement
Poor response to L-dopa [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Phenotypic variability [MISCELLANEOUS]
Caused by mutation in the solute carrier family 18 (vesicular monoamine), member 2 gene (SLC18A2, 193001.0001) [MOLECULAR BASIS]
Favorable clinical response to dopamine receptor agonist [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU060566
http://purl.bioontology.org/ontology/OMIM/MTHU060501
http://purl.bioontology.org/ontology/OMIM/MTHU036555
http://purl.bioontology.org/ontology/OMIM/MTHU062196
http://purl.bioontology.org/ontology/OMIM/MTHU047059
http://purl.bioontology.org/ontology/OMIM/MTHU062201
http://purl.bioontology.org/ontology/OMIM/MTHU053634
http://purl.bioontology.org/ontology/OMIM/MTHU008070
http://purl.bioontology.org/ontology/OMIM/MTHU044671
http://purl.bioontology.org/ontology/OMIM/MTHU053885
http://purl.bioontology.org/ontology/OMIM/MTHU062199
http://purl.bioontology.org/ontology/OMIM/MTHU063758
http://purl.bioontology.org/ontology/OMIM/MTHU001907
http://purl.bioontology.org/ontology/OMIM/MTHU062193
http://purl.bioontology.org/ontology/OMIM/MTHU002522
http://purl.bioontology.org/ontology/OMIM/MTHU008082
http://purl.bioontology.org/ontology/OMIM/MTHU062194
http://purl.bioontology.org/ontology/OMIM/MTHU000283
http://purl.bioontology.org/ontology/OMIM/MTHU001772
http://purl.bioontology.org/ontology/OMIM/MTHU000749
http://purl.bioontology.org/ontology/OMIM/MTHU072312
http://purl.bioontology.org/ontology/OMIM/MTHU001928
http://purl.bioontology.org/ontology/OMIM/MTHU006935
http://purl.bioontology.org/ontology/OMIM/MTHU001908
http://purl.bioontology.org/ontology/OMIM/MTHU059862
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU000509
http://purl.bioontology.org/ontology/OMIM/MTHU000764
http://purl.bioontology.org/ontology/OMIM/MTHU062200
http://purl.bioontology.org/ontology/OMIM/MTHU007960
http://purl.bioontology.org/ontology/OMIM/MTHU062192
http://purl.bioontology.org/ontology/OMIM/MTHU001721
http://purl.bioontology.org/ontology/OMIM/MTHU062198
http://purl.bioontology.org/ontology/OMIM/MTHU015285
http://purl.bioontology.org/ontology/OMIM/MTHU057024
http://purl.bioontology.org/ontology/OMIM/MTHU000199
http://purl.bioontology.org/ontology/OMIM/MTHU031700
http://purl.bioontology.org/ontology/OMIM/MTHU025907
http://purl.bioontology.org/ontology/OMIM/MTHU039281
http://purl.bioontology.org/ontology/OMIM/MTHU015980
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU004222
http://purl.bioontology.org/ontology/OMIM/MTHU062195
http://purl.bioontology.org/ontology/OMIM/MTHU037360
http://purl.bioontology.org/ontology/OMIM/MTHU000242
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tui
T047
Gene Locus
10q25
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618049
Semantic type UMLS property
Has inheritance type
cui
C4303546
OMIM Entry Type
3
OMIM MimType Value
pound
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