Search Ontology:
Human Disease

neurodegeneration with brain iron accumulation 2a

Term ID
DOID:0110735
Synonyms
  • INAD1
  • Infantile Neuroaxonal Dystrophy 1
  • NBIA2a
  • Neurodegeneration, Pla2g6-Associated
  • Seitelberger Disease
Definition
A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. https://www.ncbi.nlm.nih.gov/pubmed/18443314
References
Ontology
Human Disease   ( DOID:0110735 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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