You are using an outdated browser. Please upgrade your browser to improve your experience.

gracile syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description GRACILE syndrome is an inherited lethal mitochondrial disorder characterized by fetal growth restriction (GR), aminoaciduria (A), cholestasis (C), iron overload (I), lactacidosis (L), and early death (E).
Uniprot Description GRACILE stands for 'growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death'. It is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism.
Mondo Term and Equivalent IDs
MONDO:0011308:  gracile syndrome
DOID:0111455: 
GARD:0000001: 
MESH:C537934: 
Orphanet:53693: 
SCTID:703388005: 
UMLS:C1864002: