Search Ontology:
Human Disease

Kanzaki disease

Term ID
DOID:0112319
Synonyms
  • adult-onset alpha-N-acetylgalactosaminidase deficiency
  • alpha-N-acetylgalactosaminidase deficiency type 2
  • NAGA deficiency type 2
Definition
A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. https://pubmed.ncbi.nlm.nih.gov/2564952/
References
Ontology
Human Disease   ( DOID:0112319 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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