About: pantothenate kinase-associated neurodegeneration

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About: pantothenate kinase-associated neurodegeneration Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease neurodegeneration with brain iron accumulation nodeID://b50952516
label	pantothenate kinase-associated neurodegeneration
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:3981
database_cross_reference	ICD10CM:G23.0 GARD:6564 MESH:D006211 NCI:C8967 OMIM:234200 ORDO:157850 SNOMEDCT_US_2021_09_01:2992000 UMLS_CUI:C0018523
has_exact_synonym	Hallervorden-Spatz disease (en) Hallervorden-Spatz syndrome (en) NBIA1 (en) Pigmentary pallidal degeneration (en) brain Iron Accumulation type I syndrome (en) neurodegeneration with brain iron accumulation 1 (en)
has_obo_namespace	disease_ontology
in_subset	DO_FlyBase_slim NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50952517

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