Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00021 (Tree)
Name Schindler disease, type II
Aliases Kanzaki disease
Disease name:　Preferred Term KANZAKI DISEASE
Disease name:　Synonyms (from OMIM and MeSH) ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, ADULT-ONSET
NAGA DEFICIENCY, TYPE II
SCHINDLER DISEASE, TYPE II
ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE II
UMLS CUI C1836522
UMLS SAB MeSH (SCR)
UMLS CODE C536631
OMIM DATA:　Gene NAGA
OMIM DATA:　Gene Number 104170
OMIM DATA:　Phenotype Number 609242
Symptoms, signs and abnormal clinical and laboratory findings
  • Angiokeratoma
  • Ear Diseases
  • Hearing Disorders
  • Hearing Loss (Hearing impairment)
  • Heredodegenerative Disorders, Nervous System
  • Hypesthesia (Numbness)
  • Intellectual Disability (Mental Retardation)
  • Labyrinth Diseases
  • Mental Disorders Diagnosed in Childhood
  • Neoplasms, Vascular Tissue
  • Neurobehavioral Manifestations
  • Neurodegenerative Diseases
  • Somatosensory Disorders
GDGDB (ID)
Link to the Glyco-Disease Genes Database		 81