SHMARQL

pantothenate kinase-associated neurodegeneration

<http://www.wikidata.org/entity/Q1436162>

neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13
rdfs:label
"pantothenate kinase-associated neurodegeneration"@en
skos:altLabel
"Hallervorden-Spatz disease"@en
"Hallervorden-Spatz syndrome"@en
"NBIA1"@en
"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1"@en
"Neurodegeneration With Brain Iron Accumulation type 1"@en
"PKAN"@en
"Pantothenate Kinase-Associated Neurodegeneration"@en
"Pigmentary pallidal degeneration"@en
"Pkan Neuroaxonal Dystrophy, Juvenile-Onset"@en
"brain Iron Accumulation type I syndrome"@en
"neurodegeneration with brain iron accumulation 1"@en
"pigmentary pallidal degeneration (disorder)"@en
schema:description
"neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13"@en
schema:dateModified "2026-10-23T23:26:58+00:00"^^xsd:dateTime
schema:version 2560154744
wikibase:identifiers 27
30
wikibase:sitelinks 18
wikibase:statements 50
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p:P11430 wd:statement/Q1436162-74c76d63-413f-4ae0-566d-0cd9c968300c
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p:P138 wd:statement/q1436162-41EF08BE-1E7B-4CDD-B948-6D627F61CC29
wd:statement/q1436162-5BC4F741-DFA6-44DC-A0B6-78C8502FE1BC
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p:P1550 wd:statement/Q1436162-2721B4F2-C01C-476F-9ACE-FF65FC318407
p:P1692 wd:statement/Q1436162-53D8FEB9-A1A4-40C9-86F9-ED44F08CF658
p:P1748 wd:statement/Q1436162-34A0B6E6-1ADA-4A61-9989-790F64B9863F
wd:statement/Q1436162-8DC3B475-812D-4C60-AAC1-85B70A5C98FA
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p:P2293 wd:statement/Q1436162-FA9A4A74-3C30-4248-A0F4-3594367F6AB5
p:P2581 wd:statement/Q1436162-7D147593-B89C-4807-AB0E-1C361D86F26F
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wd:statement/Q1436162-7F9CF31F-94EE-4CF3-8FDA-8E7EB1EB3A65
wd:statement/Q1436162-8534920e-4ec4-289d-d9a8-449353702430
wd:statement/Q1436162-91f2e68b-439e-5dad-9e42-262193b8d38d
wd:statement/Q1436162-96294C6C-FDFF-4E6A-9C93-3322F6B32BE6
wd:statement/Q1436162-C9CDDEDB-4A8D-4BA5-A4A9-71082EB24FB6
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wd:statement/Q1436162-531E2C55-C16D-4FBB-B9B9-D1BEB2CAEFA4
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wd:statement/Q1436162-4F3808B3-2862-4D5E-9252-DCFD3EE26BF3
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p:P4233 wd:statement/Q1436162-fe468e74-4a1f-c386-1a2c-3eb08c3a51e4
p:P4317 wd:statement/Q1436162-E042B89A-6D1D-47FF-AF95-0E747C08513F
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p:P5008 wd:statement/Q1436162-C787ABD4-5228-4649-BAB9-8DD5D39B7D33
p:P5270 wd:statement/Q1436162-16A2A174-8FFE-4DBE-ABED-598F7B79A1A2
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p:P604 wd:statement/q1436162-28FE3188-5609-49DA-AFD6-8B0A8D434A43
p:P6366 wd:statement/Q1436162-60831CA0-C794-465A-A6B1-34118384A401
p:P646 wd:statement/Q1436162-2FDC14A1-8EB9-479C-A76C-E7194E880BCC
p:P665 wd:statement/Q1436162-FBD4CBB0-ED83-4FED-BA1D-8351231B7FE5
p:P668 wd:statement/q1436162-1C21E72B-4E63-490C-827D-C7327816F48F
p:P672 wd:statement/Q1436162-2DB9CB8B-9233-4F0B-83DB-F0988AD4D63B
wd:statement/Q1436162-3B3ACD54-68E3-47C4-ACD4-8BA270501FBF
wd:statement/Q1436162-494FB238-E07C-4C2A-BB60-AA8EB7FC863E
wd:statement/Q1436162-69EB1A21-6F0F-4938-9B1E-F2BAF52CCB6F
wd:statement/Q1436162-C4242C51-DCFE-4A7B-B042-EB0034F00997
p:P673 wd:statement/q1436162-D44664A4-2C76-4CCB-8E66-E2F8F812B359
p:P699 wd:statement/Q1436162-90C0332B-3169-4BFE-9A60-F6DCED92BED2
p:P7464 wd:statement/Q1436162-7A41F29F-1DFB-4CC5-9273-CE5C0F0E444A
p:P9272 wd:statement/Q1436162-0750F68A-4F6C-498A-B608-FC22AE9081AA
p:direct-normalized/P2581 <http://babelnet.org/rdf/s02717324n>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D006211>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0009319>
p:direct-normalized/P6366 <https://makg.org/entity/2778679489>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H02208>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C10.228.140.079.800>
<http://id.nlm.nih.gov/mesh/C10.228.140.744.320>
<http://id.nlm.nih.gov/mesh/C10.228.662.575>
<http://id.nlm.nih.gov/mesh/C10.574.500.700>
<http://id.nlm.nih.gov/mesh/C16.320.400.650>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:3981>
wdt:P11143 "Pantothenate kinase-associated neurodegeneration"
wdt:P11430 "DI-02126"
wdt:P1193 0.000005^^xsd:decimal
wdt:P138 Julius Hallervorden
Hugo Spatz
wdt:P14914 "D157850"
wdt:P1550 "157850"
wdt:P1692 "333.0"
wdt:P1748 "C84988"
"C8967"
wdt:P1995 neurology
wdt:P2293 PANK2
wdt:P2581 "02717324n"
wdt:P279 autosomal recessive disease
neurodegeneration with brain iron accumulation
eye degenerative disease
neuroacanthocytosis
wdt:P2841 any age
wdt:P2888 <http://identifiers.org/doid/DOID:3981>
<http://purl.obolibrary.org/obo/DOID_3981>
<http://www.orpha.net/ORDO/Orphanet_157850>
wdt:P2892 "C0018523"
wdt:P31 type of disease
rare disease
wdt:P373 "Pantothenate kinase-associated neurodegeneration"
wdt:P4229 "G23.0"
wdt:P4233 "pantothenate-kinase-associated-neurodegeneration"
wdt:P4317 "6564"
wdt:P486 "D006211"
wdt:P492 "234200"
wdt:P493 "333.0"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0009319"
wdt:P557 "29462"
wdt:P604 "001225"
wdt:P6366 "2778679489"
wdt:P646 "/m/097gb2"
wdt:P665 "H02208"
wdt:P668 "NBK1490"
wdt:P672 "C10.228.140.079.800"
"C10.228.140.744.320"
"C10.228.662.575"
"C10.574.500.700"
"C16.320.400.650"
wdt:P673 "1150519"
wdt:P699 "DOID:3981"
wdt:P7464 "pantothenate-kinase-associated-neurodegeneration"
wdt:P9272 "6364"
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