OBO ID: DOID:0112317
Term Name: Schindler disease Search Ontology:
Synonyms:
  • alpha-N-acetylgalactosaminidase deficiency
  • NAGA deficiency
Definition: A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in NAGA on chromosome 22q13.2. https://pubmed.ncbi.nlm.nih.gov/3149698/
References:
  • ORDO:3137
Ontology: Human Disease   (DOID:0112317)
OTHER Schindler disease PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None