FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term neurodegeneration with brain iron accumulation 6 ID (Ontology) DOID:0110740 (Human Disease)
Definition A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2.
Also Known As "COASY protein-associated neurodegeneration" ; "CoPAN" ; "NBIA6" (for all, see Synonyms field below)
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Alleles Genes Human Disease Models
 neurodegeneration with brain iron accumulation 6       1      1      1
 for disease ribbon | neurodegeneration with brain iron accumulation 6       --       1       --
 model of | neurodegeneration with brain iron accumulation 6       1      1       --
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autosomal genetic disease
 |__autosomal recessive disease_____________________
neurodegenerative disease                           |
 |__neurodegeneration with brain iron accumulation__|
                                                    neurodegeneration with brain iron accumulation 6  3 rec.
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Is a autosomal recessive disease
neurodegeneration with brain iron accumulation
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Synonyms
  • "COASY protein-associated neurodegeneration" EXACT
    "CoPAN" EXACT OMO:0003012
    "NBIA6" EXACT OMO:0003012
    "Neurodegeneration with brain iron accumulation due to COASY mutation" EXACT
Secondary IDs
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ICD10CM:G23.0
MIM:615643
ORDO:397725