OBO ID: DOID:0112319
Term Name: Kanzaki disease Search Ontology:
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 Kanzaki disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NAGA Kanzaki disease 609242
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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