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Disease Ontology Browser
Kanzaki disease (DOID:0112319)
Alliance: disease page
Synonyms: adult-onset alpha-N-acetylgalactosaminidase deficiency; alpha-N-acetylgalactosaminidase deficiency type 2; NAGA deficiency type 2
Alt IDs: OMIM:609242, ORDO:79280
Definition: A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory