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GRACILE syndrome

^ http://www.orpha.net/ORDO/Orphanet_53693


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).

Synonyms: Growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome, Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome, Fellman disease

Term info

database cross reference
  • OMIM:603358 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E88.8 (NTBT (narrower term maps to a broader term))
  • MeSH:C537934 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:E88.8 (Attributed)
  • UMLS:C1864002 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

MeSH:C537934, UMLS:C1864002, OMIM:603358, ICD-10:E88.8

notation

ORPHA:53693