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| Term | pantothenate kinase-associated neurodegeneration | ID (Ontology) | DOID:3981 (Human Disease) | |||||||||||||||||||||||||||
| Definition | A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. | |||||||||||||||||||||||||||||
| Also Known As | "brain Iron Accumulation type I syndrome" ; "Hallervorden-Spatz disease" ; "Hallervorden-Spatz syndrome" (for all, see Synonyms field below) | |||||||||||||||||||||||||||||
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autosomal genetic disease |__autosomal recessive disease_____________________ neurodegenerative disease | |__neurodegeneration with brain iron accumulation__| pantothenate kinase-associated neurodegeneration 14 rec. |
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autosomal recessive disease neurodegeneration with brain iron accumulation |
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GARD:6564 ICD10CM:G23.0 MESH:D006211 MIM:234200 NCI:C8967 ORDO:157850 SNOMEDCT_US_2023_03_01:2992000 UMLS_CUI:C0018523 |
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