OBO ID: DOID:3981
Term Name: pantothenate kinase-associated neurodegeneration Search Ontology:
Synonyms:
  • brain Iron Accumulation type I syndrome
  • Hallervorden-Spatz disease
  • Hallervorden-Spatz syndrome
  • NBIA1
  • neurodegeneration with brain iron accumulation 1
  • Pigmentary pallidal degeneration
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
  • NCI:C8967
  • OMIM:234200
  • ORDO:157850
  • SNOMEDCT_US_2023_03_01:2992000
  • UMLS_CUI:C0018523
Ontology: Human Disease   ( DOID:3981 )
Relationships
is a type of:
OTHER pantothenate kinase-associated neurodegeneration PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PANK2 Neurodegeneration with brain iron accumulation 1 234200
ZEBRAFISH MODELS
Fish Conditions Citations
AB + MO1-pank2 standard conditions Zizioli et al., 2016
PHENOTYPE No data available

CITATIONS (1)
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