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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. [ Orphanet:263440 ]

Term info

database cross reference
  • NCIT:C84926 (MONDO:equivalentTo)
  • GARD:0010902 (MONDO:equivalentTo)
  • MESH:D054546 (https://orcid.org/0000-0003-1967-3726)
  • DOID:0050765 (MONDO:equivalentTo)
  • Orphanet:263440 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

definition

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.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C84926, http://purl.obolibrary.org/obo/Orphanet_263440, http://purl.obolibrary.org/obo/DOID_0050765, http://identifiers.org/mesh/D054546

has related synonym

neuroacanthocytosis syndrome

id

MONDO:0016987