OBO ID: DOID:0112320
Term Name: Schindler disease type 3 Search Ontology:
Synonyms:
  • alpha-N-acetylgalactosaminidase deficiency type 3
  • NAGA deficiency type 3
Definition: A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. https://pubmed.ncbi.nlm.nih.gov/8071745/
References:
  • GARD:3903
  • ORDO:79281
Ontology: Human Disease   ( DOID:0112320 )
OTHER Schindler disease type 3 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None