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DO Term : infantile parkinsonism-dystonia 2 [DOID:0070490] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • GARD:13594,
  • UMLS_CUI:C4303546,
  • 618049,
  • Brain dopamine-serotonin vesicular transport disease,
  • UMLS_CUI:C4747991,
  • SNOMEDCT_US_2023_03_01:717942003,
  • PKDYS2,
  • OMIM:618049
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents