Terminology Service for NFDI4Health

neurodegeneration with brain iron accumulation 2a

Go to external page http://purl.obolibrary.org/obo/DOID_0110735


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. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007645 https://omim.org/entry/256600 ]

Term info

Label

neurodegeneration with brain iron accumulation 2a

Synonyms
  • INAD1
  • Infantile Neuroaxonal Dystrophy 1
  • NBIA2a
  • Neurodegeneration, Pla2g6-Associated
  • Seitelberger Disease
database cross reference
has obo namespace

disease_ontology

id

DOID:0110735