- Concept UI
- M0529363
- Scope Note
- Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.
- Terms
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Barth Syndrome
Preferred Term
Term UI
T734862
Date02/10/2009
LexicalTag
EPO
ThesaurusID
-
MGA Type 2
Term UI
T751310
Date05/15/2009
LexicalTag
ABX
ThesaurusID
-
3-Methylglutaconic Aciduria, Type II
Term UI
T822999
Date06/06/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)
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3-Methylglutaconicaciduria Type 2
Term UI
T823000
Date06/06/2012
LexicalTag
NON
ThesaurusID
-
3-Methylglutaconicaciduria Type II
Term UI
T823001
Date06/06/2012
LexicalTag
NON
ThesaurusID
-
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria
Term UI
T823002
Date06/06/2012
LexicalTag
NON
ThesaurusID
OMIM (2013)
-
MGA Type II
Term UI
T824084
Date06/19/2012
LexicalTag
ABX
ThesaurusID