GGDonto: Genetic Glyco-Diseases Ontology
 CON00069 :  'Gaucher disease, type II, perinatal lethal form'  (Integration tree)  (Degradation tree)

Full list of disease names
Preferred Term  GAUCHER DISEASE, PERINATAL LETHAL
Synonyms (from OMIM and MeSH)  GAUCHER DISEASE, COLLODION TYPE
UMLS CUI  C1842704
UMLS SAB  MeSH (SCR)
UMLS CODE  C564306
OMIM DATA
Gene  GBA
Gene Number  606463
Phenotype Number  608013


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