Terminology Service < Semantic Lookup Platform

neuroacanthocytosis

http://purl.obolibrary.org/obo/MONDO_0016987

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. [ ]

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Term info

Label

neuroacanthocytosis

database cross reference

Subsets

disease_grouping, ordo_group_of_disorders

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84926, http://purl.obolibrary.org/obo/Orphanet_263440, http://purl.obolibrary.org/obo/DOID_0050765

has related synonym

neuroacanthocytosis syndrome

MONDO:0016987

Term relations

Subclass of:

movement disorder
Huntington disease-like syndrome
disease arises from feature some neurodegenerative disease
disease has major feature some dementia