OBO ID: DOID:0112318
Term Name: Schindler disease type 1 Search Ontology:
Synonyms:
  • alpha-N-acetylgalactosaminidase deficiency type 1
  • NAGA deficiency type 1
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. https://pubmed.ncbi.nlm.nih.gov/2889023/
References:
Ontology: Human Disease   ( DOID:0112318 )
OTHER Schindler disease type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NAGA Schindler disease, type I 609241
Schindler disease, type III 609241
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None