OBO ID: DOID:0110735
Term Name: neurodegeneration with brain iron accumulation 2a Search Ontology:
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. (2)
References:
Ontology: Human Disease   ( DOID:0110735 )
Relationships
is a type of:
OTHER neurodegeneration with brain iron accumulation 2a PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLA2G6 Infantile neuroaxonal dystrophy 1 256600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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