Search Ontology:
Human Disease

Schindler disease type 1

Term ID
DOID:0112318
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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