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severe Canavan disease

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
Mondo Term and Equivalent IDs
MONDO:0017830:  severe Canavan disease
Orphanet:314911: 
UMLS:CN203803: