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)
- GARD:10902 (MONDO:GARD)
- icd11.foundation:1012724153 (MONDO:equivalentTo)
- NORD:1501 (MONDO:NORD)
- Orphanet:263440 (MONDO:equivalentTo)
- MESH:D054546 (https://orcid.org/0000-0003-1967-3726)
- NANDO:1200013 (https://orcid.org/0000-0003-0011-764X)
- NCIT:C84926 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, gard_rare, disease_grouping, matrix_llm__txgnn_other, mondo_top_grouping_member, harrisons_view_psychiatric_disorder, nord_rare, matrix_txgnn_grouping_member, rare, matrix_txgnn_grouping_psychiatric_disorder, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, matrix_excluded, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_txgnn_grouping_neurodegenerative_disease, matrix_llm__tag_existing_treatment_other, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, ordo_group_of_disorders
http://purl.obolibrary.org/obo/NCIT_C84926
http://identifiers.org/mesh/D054546
http://purl.obolibrary.org/obo/DOID_0050765
http://www.orpha.net/ORDO/Orphanet_263440
http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1012724153