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peroxisomal disease

Disease Summary
Associated Targets (175)
Tbio

139

Tchem

25

Tclin

7

Tdark

4


Mondo Description A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, mental retardation, facial abnormalities, hepatomegaly, and hypotonia.
Disease Ontology Description An inherited metabolic disorder that involves peroxisome malfunction.
Mondo Term and Equivalent IDs
MONDO:0019053:  peroxisomal disease
COHD:441268: 
ICD9:277.86: 
NCIT:C85005: 
Orphanet:68373: 
SCTID:238059005: 
UMLS:C0282528: