Search Ontology:
Human Disease
Schindler disease
- Term ID
- DOID:0112317
- Synonyms
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- alpha-N-acetylgalactosaminidase deficiency
- NAGA deficiency
- Definition
- A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. https://pubmed.ncbi.nlm.nih.gov/3149698/
- References
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- ORDO:3137
- Ontology
- Human Disease ( DOID:0112317 )
- is a type of
-
- has subtype
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Other Pages
Genes Involved
Zebrafish Models