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 information
- DOID:0050765 (MONDO:equivalentTo)
- NCIT:C84926 (MONDO:equivalentTo)
- Orphanet:263440 (MONDO:equivalentTo)
- NORD:1501 (MONDO:NORD)
- NANDO:1200013 (https://orcid.org/0000-0003-0011-764X)
- GARD:10902 (MONDO:GARD)
- MESH:D054546 (https://orcid.org/0000-0003-1967-3726)
gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders
http://purl.obolibrary.org/obo/NCIT_C84926
http://purl.obolibrary.org/obo/DOID_0050765
http://identifiers.org/mesh/D054546
http://www.orpha.net/ORDO/Orphanet_263440