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Metadata
ID DOID:3981
Name pantothenate kinase-associated neurodegeneration
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
Xrefs

GARD:6564

ICD10CM:G23.0

MESH:D006211

NCI:C84988

OMIM:234200

ORDO:157850

SNOMEDCT_US_2019_09_01:2992000

UMLS_CUI:C0018523

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

brain Iron Accumulation type I syndrome [EXACT]

Hallervorden-Spatz disease [EXACT]

Hallervorden-Spatz syndrome [EXACT]

NBIA1 [EXACT]

neurodegeneration with brain iron accumulation 1 [EXACT]

Pigmentary pallidal degeneration [EXACT]

Parent Relationships

is_a neurodegeneration with brain iron accumulation

is_a autosomal recessive disease

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