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Disease Ontology Browser
Schindler disease type 1 (DOID:0112318)
Alliance: disease page
Synonyms: alpha-N-acetylgalactosaminidase deficiency type 1; NAGA deficiency type 1
Alt IDs: OMIM:609241, ORDO:79279
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.


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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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory