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Disease Ontology Browser
pantothenate kinase-associated neurodegeneration (DOID:3981)
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Synonyms: brain Iron Accumulation type I syndrome; Hallervorden-Spatz disease; Hallervorden-Spatz syndrome; NBIA1; neurodegeneration with brain iron accumulation 1; Pigmentary pallidal degeneration
Alt IDs: OMIM:234200, ICD10CM:G23.0, MESH:D006211, NCI:C8967, ORDO:157850, UMLS_CUI:C0018523
Definition: A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/25/2025
MGI 6.24 		The Jackson Laboratory