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Summary Literature (0)
DOID:0112318 - Schindler disease type 1


Disease Ontology Definition:A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2.

Synonyms: NAGA deficiency type 1, alpha-N-acetylgalactosaminidase deficiency type 1,

Xenbase Genes : naga



Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Schindler disease (is_a)