SHMARQL

neuroacanthocytosis

<http://www.wikidata.org/entity/Q746781>

Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia
rdfs:label
"neuroacanthocytosis"@en
skos:altLabel
"Neuroacanthocytosis"@en
schema:description
"Neuroacanthocytosis (NA) syndromes are a group of genetic diseases characterized by the association of red blood cell acanthocytosis (deformed erythrocytes with spike-like protrusions) and progressive degeneration of the basal ganglia"@en
schema:dateModified "2026-10-23T23:51:37+00:00"^^xsd:dateTime
schema:version 2560159719
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wdt:P1995 medical genetics
neurology
wdt:P2293 VPS13A
JPH3
PANK2
XK
wdt:P279 Huntington's disease-like syndrome
genetic neurodegenerative disease with dementia
wdt:P2888 <http://identifiers.org/doid/DOID:0050765>
<http://purl.obolibrary.org/obo/DOID_0050765>
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designated intractable/rare disease
rare disease
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wdt:P5008 WikiProject Medicine
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wdt:P780 acanthocyte
wdt:P7807 "1012724153"
wdt:P8408 "Neuroacanthocytosis"
wdt:P9272 "52592"
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