Search Ontology:
Human Disease

pantothenate kinase-associated neurodegeneration

Term ID
DOID:3981
Synonyms
  • brain Iron Accumulation type I syndrome
  • Hallervorden-Spatz disease
  • Hallervorden-Spatz syndrome
  • NBIA1
  • neurodegeneration with brain iron accumulation 1
  • Pigmentary pallidal degeneration
(all 6)
Definition
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration
References
  • GARD:6564
  • ICD10CM:G23.0
  • MESH:D006211
  • MIM:234200
  • NCI:C8967
  • ORDO:157850
  • SNOMEDCT_US_2023_03_01:2992000
  • UMLS_CUI:C0018523
(all 8)
Ontology
Human Disease   ( DOID:3981 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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