GGDonto: Genetic Glyco-Diseases Ontology
 CON00020 :  'Schindler disease, type I'  (Integration tree)  (Degradation tree)

Common disease names  infantile type
Full list of disease names
Preferred Term  SCHINDLER DISEASE, TYPE I
Synonyms (from OMIM and MeSH)  ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE I
 NAGA DEFICIENCY, TYPE I
 NEUROAXONAL DYSTROPHY, SCHINDLER TYPE
INCLUDED  ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY, TYPE III, INCLUDED
 NAGA DEFICIENCY, TYPE III, INCLUDED
 SCHINDLER DISEASE, TYPE III, INCLUDED
UMLS CUI  C1836544
UMLS SAB  MeSH (SCR)
UMLS CODE  C536631
OMIM DATA
Gene  NAGA
Gene Number  104170
Phenotype Number  609241
GDGDB (80)


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