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DO Term : Kanzaki disease [DOID:0112319] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 609242,
  • GARD:9161,
  • adult-onset alpha-N-acetylgalactosaminidase deficiency,
  • alpha-N-acetylgalactosaminidase deficiency type 2,
  • NAGA deficiency type 2,
  • OMIM:609242,
  • ORDO:79280
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents