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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)