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Human Disease

Schindler disease

Term ID
DOID:0112317
Synonyms
  • 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
  • ORDO:3137
Ontology
Human Disease   ( DOID:0112317 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models