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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Barth syndrome
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Accession:DOID:0050476 term browser browse the term
Definition:A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. (DO)
Synonyms:exact_synonym: 3 methylglutaconicaciduria type 2;   3-Methylglutaconicaciduria Type II;   3-methylglutaconic aciduria type 2;   3-methylglutaconic aciduria type II;   BTHS;   MGA type 2;   MGA type II;   MGA2;   MGCA2;   X-linked cardioskeletal myopathy and neutropenia;   cardioskeletal myopathy with neutropenia and abnormal mitochondria;   cardioskeletal myopathy-neutropenia syndrome
 xref: GARD:5890;   ICD10CM:E78.71;   MESH:D056889;   MIM:302060;   MONDO:0010543;   NCI:C84585;   ORDO:111

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Barth syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcd1 ATP binding cassette subfamily D member 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:459,715...475,363
Ensembl chrNW_004955580:459,715...475,774 		JBrowse link
G Arhgap4 Rho GTPase activating protein 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:586,986...600,299 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:286,092...332,657
Ensembl chrNW_004955580:269,100...333,471 		JBrowse link
G Atp6ap1 ATPase H+ transporting accessory protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:927,546...934,633
Ensembl chrNW_004955580:927,114...934,734 		JBrowse link
G Avpr2 arginine vasopressin receptor 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:583,827...586,739
Ensembl chrNW_004955580:583,480...586,456 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:429,223...459,168
Ensembl chrNW_004955580:428,644...459,168 		JBrowse link
G Bgn biglycan ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:252,183...263,179
Ensembl chrNW_004955580:252,139...263,663 		JBrowse link
G Brcc3 BRCA1/BRCA2-containing complex subunit 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:551,407...613,772
Ensembl chrNW_004955594:554,081...613,661 		JBrowse link
G Ccnq cyclin Q ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:336,681...349,435
Ensembl chrNW_004955580:336,681...349,435 		JBrowse link
G Clic2 chloride intracellular channel 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:374,332...393,802
Ensembl chrNW_004955594:374,208...393,389 		JBrowse link
G Cmc4 C-X9-C motif containing 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:618,516...624,780
Ensembl chrNW_004955594:618,516...624,780 		JBrowse link
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955594:846,997...857,255
Ensembl chrNW_004955594:847,815...856,510 		JBrowse link
G Dnase1l1 deoxyribonuclease 1 like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria ClinVar PMID:1719174 PMID:9345098 PMID:9384614 PMID:9536098 PMID:10480214 More... NCBI chrNW_004955580:907,056...913,604
Ensembl chrNW_004955580:907,582...914,243 		JBrowse link
G Dusp9 dual specificity phosphatase 9 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:388,277...392,269
Ensembl chrNW_004955580:388,850...391,455 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:864,532...866,904
Ensembl chrNW_004955580:864,532...866,904 		JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:658,686...800,101
Ensembl chrNW_004955594:658,523...802,865 		JBrowse link
G Fam3a FAM3 metabolism regulating signaling molecule A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,025,481...1,036,752
Ensembl chrNW_004955580:1,029,553...1,036,849 		JBrowse link
G Fam50a family with sequence similarity 50 member A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:941,620...947,763 JBrowse link
G Fkbp1a FKBP prolyl isomerase 1A ISO OMIM:302060 MouseDO NCBI chrNW_004955596:580,106...606,210
Ensembl chrNW_004955596:580,106...603,255 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:874,233...895,172
Ensembl chrNW_004955580:874,233...895,232 		JBrowse link
G Fundc2 FUN14 domain containing 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:627,839...656,241
Ensembl chrNW_004955594:625,701...656,400 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,045,294...1,058,129
Ensembl chrNW_004955580:1,045,294...1,057,083 		JBrowse link
G Gab3 GRB2 associated binding protein 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955594:882,921...955,079
Ensembl chrNW_004955594:912,108...956,037 		JBrowse link
G Gdi1 GDP dissociation inhibitor 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:935,021...941,081
Ensembl chrNW_004955580:934,798...941,081 		JBrowse link
G Haus7 HAUS augmin like complex subunit 7 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:210,799...230,450
Ensembl chrNW_004955580:210,820...230,734 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:616,477...636,849
Ensembl chrNW_004955580:616,477...635,597 		JBrowse link
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:500,712...507,512
Ensembl chrNW_004955580:500,825...507,608 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,053,823...1,069,802
Ensembl chrNW_004955580:1,053,823...1,069,802 		JBrowse link
G Irak1 interleukin 1 receptor associated kinase 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:663,651...668,622
Ensembl chrNW_004955580:661,609...668,622 		JBrowse link
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:548,442...561,580
Ensembl chrNW_004955580:549,368...561,486 		JBrowse link
G Lage3 L antigen family member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:992,190...993,617
Ensembl chrNW_004955580:992,190...993,617 		JBrowse link
G LOC102021406 histone H2A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955593:911,641...911,919 JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:674,014...737,586
Ensembl chrNW_004955580:679,109...735,288 		JBrowse link
G Mest mesoderm specific transcript ISO OMIM:302060 MouseDO NCBI chrNW_004955479:11,116,705...11,135,061
Ensembl chrNW_004955479:11,122,007...11,135,061 		JBrowse link
G Mpp1 MAGUK p55 scaffold protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:831,100...846,438
Ensembl chrNW_004955594:831,098...846,866 		JBrowse link
G Mtcp1 mature T cell proliferation 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:614,422...620,142
Ensembl chrNW_004955594:614,422...620,142 		JBrowse link
G Naa10 N-alpha-acetyltransferase 10, NatA catalytic subunit ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:604,805...609,978
Ensembl chrNW_004955580:603,331...612,608 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955498:8,135,897...8,161,775
Ensembl chrNW_004955498:8,135,897...8,161,775 		JBrowse link
G Pdzd4 PDZ domain containing 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:512,963...535,911
Ensembl chrNW_004955580:512,925...535,917 		JBrowse link
G Plxna3 plexin A3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:958,033...972,123
Ensembl chrNW_004955580:957,860...972,772 		JBrowse link
G Plxnb3 plexin B3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:482,602...495,628
Ensembl chrNW_004955580:484,805...495,445 		JBrowse link
G Pnck pregnancy up-regulated nonubiquitous CaM kinase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:401,411...406,663
Ensembl chrNW_004955580:401,297...405,065 		JBrowse link
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:424,642...431,009
Ensembl chrNW_004955594:424,504...431,009 		JBrowse link
G Renbp renin binding protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:610,112...615,019
Ensembl chrNW_004955580:609,964...615,027 		JBrowse link
G Rpl10 ribosomal protein L10 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:903,618...906,439
Ensembl chrNW_004955580:903,412...906,439 		JBrowse link
G Slc10a3 solute carrier family 10 member 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:1,002,029...1,005,673
Ensembl chrNW_004955580:1,002,029...1,005,673 		JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:419,696...426,727 JBrowse link
G Smim9 small integral membrane protein 9 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:803,406...816,735 JBrowse link
G Srpk3 SRSF protein kinase 3 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:496,447...500,709
Ensembl chrNW_004955580:496,451...500,709 		JBrowse link
G Ssr4 signal sequence receptor subunit 4 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:507,672...511,498
Ensembl chrNW_004955580:507,672...511,498 		JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria | ClinVar Annotator: match by term: MGA type II OMIM
ClinVar		 PMID:972179 PMID:1719174 PMID:1998334 PMID:4685904 PMID:6142097 More... NCBI chrNW_004955580:915,668...921,703
Ensembl chrNW_004955580:915,188...922,791 		JBrowse link
G Tex28 testis expressed 28 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:781,339...791,284 JBrowse link
G Tktl1 transketolase like 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:829,653...851,422
Ensembl chrNW_004955580:829,594...851,470 		JBrowse link
G Tmlhe trimethyllysine hydroxylase, epsilon ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:272,668...329,997
Ensembl chrNW_004955594:272,646...331,757 		JBrowse link
G Trex2 three prime repair exonuclease 2 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:207,903...209,426
Ensembl chrNW_004955580:207,903...209,426 		JBrowse link
G Ubl4a ubiquitin like 4A ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11379875 PMID:11748843 PMID:11968085 More... NCBI chrNW_004955580:998,953...1,001,368
Ensembl chrNW_004955580:997,204...1,001,368 		JBrowse link
G Vbp1 VHL binding protein 1 ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955594:450,048...477,504
Ensembl chrNW_004955594:447,750...477,796 		JBrowse link
G Zfp92 ZFP92 zinc finger protein ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955580:185,250...197,329
Ensembl chrNW_004955580:190,538...193,967 		JBrowse link
G Znf185 zinc finger protein 185 with LIM domain ISO ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 ClinVar PMID:9384614 PMID:10480214 PMID:11748843 PMID:11968085 PMID:16427346 More... NCBI chrNW_004955498:8,185,997...8,248,910
Ensembl chrNW_004955498:8,185,994...8,253,209 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14315
    syndrome 9732
      Barth syndrome 59
        Dilated Cardiomyopathy, Neutropenia, Skeletal Myopathy, and Abnormal Mitochondria 0
        Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked 0
Path 2
Term Annotations click to browse term
  disease 14315
    Developmental Disease 12567
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11796
        genetic disease 11521
          inherited metabolic disorder 5511
            amino acid metabolic disorder 1476
              organic acidemia 358
                3-methylglutaconic aciduria 141
                  Barth syndrome 59
                    Dilated Cardiomyopathy, Neutropenia, Skeletal Myopathy, and Abnormal Mitochondria 0
                    Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked 0
paths to the root