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ONTOLOGY REPORT - ANNOTATIONS
Term:Barth syndrome
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Accession:DOID:0050476 term browser browse the term
Definition: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.
Synonyms:exact_synonym: 3 methylglutaconicaciduria type 2;   3-Methylglutaconicaciduria Type II;   3-methylglutaconic aciduria type II;   BTHS;   Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria;   MGA type 2;   MGA type II;   MGA2;   MGCA2
 primary_id: MESH:D056889
 alt_id: OMIM:302060;   RDO:0004451
 xref: GARD:5890;   NCI:C84585
For additional species annotation, visit the Alliance of Genome Resources.

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Barth syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Fkbp1a FKBP prolyl isomerase 1A JBrowse link 3 147,042,944 147,062,725 RGD:13592920
G Mest mesoderm specific transcript JBrowse link 4 58,052,786 58,063,227 RGD:13592920
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:7240710
RGD:8554872
RGD:11554173
Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnase1l1 deoxyribonuclease 1-like 1 JBrowse link X 156,429,521 156,438,066 RGD:8554872
G Taz tafazzin JBrowse link X 156,421,006 156,429,461 RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      Barth syndrome 4
        Dilated Cardiomyopathy, Neutropenia, Skeletal Myopathy, and Abnormal Mitochondria 0
        Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked 2
Path 2
Term Annotations click to browse term
  disease 15639
    Developmental Diseases 8774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7556
        genetic disease 7052
          inherited metabolic disorder 1879
            amino acid metabolic disorder 324
              organic acidemia 48
                3-methylglutaconic aciduria 12
                  Barth syndrome 4
                    Dilated Cardiomyopathy, Neutropenia, Skeletal Myopathy, and Abnormal Mitochondria 0
                    Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked 2
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