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DO Term : pantothenate kinase-associated neurodegeneration [DOID:3981] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.

synonyms:
brain Iron Accumulation type I syndrome,
Hallervorden-Spatz syndrome,
OMIM:234200,
GARD:6564,
Hallervorden-Spatz disease,
ORDO:157850,
NBIA1,
NCI:C8967,
UMLS_CUI:C0018523,
MESH:D006211,
SNOMEDCT_US_2023_03_01:2992000,
Pigmentary pallidal degeneration,
ICD10CM:G23.0,
neurodegeneration with brain iron accumulation 1,
234200

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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