neurodegeneration with brain iron accumulation 2b
Information
- Disease name
- neurodegeneration with brain iron accumulation 2b
- Disease ID
- DOID:0110736
- Description
- "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/18799783]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0110734
- Cross Reference ID (Disease Ontology)
- ICD10CM:G23.0
- Cross Reference ID (Disease Ontology)
- MIM:610217
- Exact Synonym (Disease Ontology)
- NBIA2b
- Exact Synonym (Disease Ontology)
- Neuroaxonal Dystrophy, Atypical
- Exact Synonym (Disease Ontology)
- Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related