BTHS
MCID: BRT005
MIFTS: 52

Barth Syndrome (BTHS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Blood diseases, Cardiovascular diseases

Aliases & Classifications for Barth Syndrome

Aliases & Descriptions for Barth Syndrome:

Name: Barth Syndrome 54 12 23 50 24 25 51 56 66 13 52 42 14
3-Methylglutaconic Aciduria Type 2 24 25 56 66 69
Cardioskeletal Myopathy with Neutropenia and Abnormal Mitochondria 50 25 56 66
Mga Type Ii 12 50 25 66
Bths 50 25 56 66
3-Methylglutaconic Aciduria Type Ii 50 24 66
Mga2 24 56 66
3 Methylglutaconic Aciduria, Type Ii 25 29
Mga Type 2 12 25
Taz Defect 50 25
Non-Compaction of Left Ventricular Myocardium Isolated X-Linked 66
Left Ventricular Non-Compaction Isolated X-Linked 66
X-Linked Cardioskeletal Myopathy and Neutropenia 56
Cardioskeletal Myopathy-Neutropenia Syndrome 56
Agammaglobulinemia 2, Autosomal Recessive 69
3-Alpha-Methylglutaconic Aciduria Type 2 66
Endocardial Fibroelastosis, X-Linked 24
Cardioskeletal Myopathy-Neutropenia 66
3-Methylglutaconicaciduria Type Ii 12
3-Methylglutaconicaciduria Type 2 12
Endocardial Fibroelastosis Type 2 24
Dnajc19 Defect 25
Mga, Type Ii 24
Mgca2 66
Agm2 66
Invm 66

Characteristics:

Orphanet epidemiological data:

56
barth syndrome
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (United States),1-9/1000000 (United Kingdom); Age of onset: Childhood; Age of death: any age;

GeneReviews:

23
barth syndrome:
Inheritance x-linked recessive inheritance


GeneReviews:

23
Penetrance Although the question of the penetrance of barth syndrome has never been formally evaluated, it is thought that males manifest complete penetrance, although with variable expressivity...

Classifications:



External Ids:

OMIM 54 302060
Disease Ontology 12 DOID:0050476
ICD10 33 E78.71
MeSH 42 D056889
NCIt 47 C84585
SNOMED-CT 64 297231002
Orphanet 56 ORPHA111
MESH via Orphanet 43 D056889
UMLS via Orphanet 70 C0574083
ICD10 via Orphanet 34 E71.1
MedGen 40 C0574083
UMLS 69 C0574083

Summaries for Barth Syndrome

NINDS : 51 Barth syndrome (BTHS) is a rare, genetic disorder of lipid metabolism that primarily affects males. It is caused by a mutation in the tafazzin gene (TAZ, also called G4.5) which leads to decreased production of an enzyme required to produce cardiolipin. Cardiolipin is an essential lipid that is important in energy metabolism. BTHS, which affects multiple body systems, is considered serious. Its main characteristics often include combinations in varying degrees of heart muscle weakness (cardiomyopathy), neutropenia (low white blood cell cunt, which may lead to an increased risk for bacterial infections), reduced muscle tone (hypotonia), muscle weakness, undeveloped skeletal muscles, delayed growth, fatigue, varying degrees of physical disability, and methylglutaconic aciduria (an increase in an organic acid that results in abnormal mitochondria function). Although some with BTHS may have all of these characteristics, others may have only one or two and are often misdiagnosed. BTHS is an X-linked genetic condition passed from mother to son through the X chromosome. A mother who is a carrier of BTHS typically shows no signs or symptoms of the disorder herself. On average, 50 percent of children born to a carrier mother will inherit the defective gene, but only boys will develop symptoms. All daughters born to an affected male will be carriers but typically will not have symptoms.

MalaCards based summary : Barth Syndrome, also known as 3-methylglutaconic aciduria type 2, is related to agammaglobulinemia 2 and 3-methylglutaconic aciduria, type v, and has symptoms including abnormality of neutrophils, dilated cardiomyopathy and endocardial fibroelastosis. An important gene associated with Barth Syndrome is TAZ (Tafazzin), and among its related pathways/superpathways is Mitochondrial protein import. The drugs Calcimimetic Agents and Cinacalcet Hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and neutrophil.

Disease Ontology : 12 A lipid metabolism disorder 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.

Genetics Home Reference : 25 Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males.

NIH Rare Diseases : 50 barth syndrome is a metabolic and neuromuscular disorder, occurring almost exclusively in males, that primarily affects the heart, immune system, muscles, and growth. it typically becomes apparent during infancy or early childhood, but the age of onset, associated symptoms and findings, and disease course varies considerably among affected individuals. the main characteristics of the condition include abnormalities of heart and skeletal muscle (cardiomyopathy and skeletal myopathy); low levels of certain white blood cells called neutrophils that help to fight bacterial infections (neutropenia); and growth retardation, potentially leading to short stature. other signs and symptoms may include increased levels of certain organic acids in the urine and blood (such as 3-methylglutaconic acid), and increased thickness of the left ventricle of the heart due to endocardial fibroelastosis, which can cause potential heart failure. barth syndrome is caused by mutations in the taz gene and is inherited in an x-linked recessive manner. treatment is directed toward the specific symptoms that are apparent in each individual. last updated: 2/25/2016

OMIM : 54 Barth syndrome (BTHS) is an X-linked disease conventionally characterized by dilated cardiomyopathy (CMD) with... (302060) more...

UniProtKB/Swiss-Prot : 66 Barth syndrome: An X-linked disease characterized by dilated cardiomyopathy with endocardial fibroelastosis, a predominantly proximal skeletal myopathy, growth retardation, neutropenia, and organic aciduria, particularly excess of 3-methylglutaconic acid. Additional features include hypertrophic cardiomyopathy, isolated left ventricular non- compaction, ventricular arrhythmia, motor delay, poor appetite, fatigue and exercise intolerance, hypoglycemia, lactic acidosis, hyperammonemia, and dramatic late catch-up growth after growth delay throughout childhood.

Wikipedia : 71 Barth syndrome (BTHS), also known as 3-Methylglutaconic aciduria type II, is an X-linkedgenetic... more...

GeneReviews: NBK247162

Related Diseases for Barth Syndrome

Graphical network of the top 20 diseases related to Barth Syndrome:



Diseases related to Barth Syndrome

Symptoms & Phenotypes for Barth Syndrome

Symptoms by clinical synopsis from OMIM:

302060

Clinical features from OMIM:

302060

Human phenotypes related to Barth Syndrome:

56 32 (show all 26)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of neutrophils 56 32 Frequent (79-30%) HP:0001874
2 dilated cardiomyopathy 56 32 Very frequent (99-80%) HP:0001644
3 endocardial fibroelastosis 56 32 Frequent (79-30%) HP:0001706
4 abnormal mitochondrial morphology 56 32 Frequent (79-30%) HP:0008322
5 fatigue 32 HP:0012378
6 gait disturbance 32 HP:0001288
7 failure to thrive 32 HP:0001508
8 mandibular prognathia 32 HP:0000303
9 macrotia 32 HP:0000400
10 hypertrophic cardiomyopathy 32 HP:0001639
11 arrhythmia 32 HP:0011675
12 full cheeks 32 HP:0000293
13 congestive heart failure 32 HP:0001635
14 growth delay 32 HP:0001510
15 deeply set eye 32 HP:0000490
16 round face 32 HP:0000311
17 talipes equinovarus 32 HP:0001762
18 neutropenia 32 HP:0001875
19 motor delay 32 HP:0001270
20 myopathic facies 32 HP:0002058
21 exercise intolerance 32 HP:0003546
22 3-methylglutaconic aciduria 32 HP:0003535
23 recurrent infections in infancy and early childhood 32 HP:0005437
24 granulocytopenia 32 HP:0001913
25 skeletal myopathy 32 HP:0003756
26 intermittent lactic acidemia 32 HP:0004913

UMLS symptoms related to Barth Syndrome:


fatigue, proximal weakness

Drugs & Therapeutics for Barth Syndrome

Drugs for Barth Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 23)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Calcimimetic Agents Phase 4
2 Cinacalcet Hydrochloride Phase 4
3 Hormone Antagonists Phase 4
4 Hormones Phase 4
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
6
Acetaminophen Approved Phase 2 103-90-2 1983
7
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
8
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
9
Promethazine Approved Phase 2 60-87-7 4927
10
rituximab Approved Phase 2 174722-31-7 10201696
11 Antirheumatic Agents Phase 2
12 Analgesics Phase 1, Phase 2
13 6-(4-fluorophenyl)-2,3-dihydro-5-(4-pyridinyl)imidazo(2,1-b)thiazole Phase 2
14 Analgesics, Non-Narcotic Phase 2
15 Anti-Inflammatory Agents Phase 2
16 Anti-Inflammatory Agents, Non-Steroidal Phase 2
17 Peripheral Nervous System Agents Phase 2
18 Pharmaceutical Solutions Phase 1
19 Vaccines Phase 1
20
Pyruvate Approved, Nutraceutical
21 Catalase
22 Coagulase
23 methicillin

Interventional clinical trials:

(show all 15)
id Name Status NCT ID Phase
1 START: Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism Completed NCT00132431 Phase 4
2 A Trial to Evaluate Safety, Tolerability and Efficacy of Elamipretide in Subjects With Barth Syndrome Recruiting NCT03098797 Phase 2, Phase 3
3 Rituximab in Patients With Relapsed or Refractory TTP-HUS Unknown status NCT00531089 Phase 2
4 Effects of Vaporized Marijuana on Neuropathic Pain Completed NCT01037088 Phase 1, Phase 2
5 Resistance Exercise in Barth Syndrome Recruiting NCT01629459 Phase 2
6 Effect of Cannabis and Endocannabinoids on HIV Neuropathic Pain Not yet recruiting NCT03099005 Phase 2
7 PTC299 for Treatment of Neurofibromatosis Type 2 Suspended NCT00911248 Phase 2
8 Safety, Tolerability and Immunogenicity of ACI-24 Vaccine in Adults With Down Syndrome Recruiting NCT02738450 Phase 1
9 Exercise Training in Barth Syndrome Completed NCT01194141
10 Prospective Study Into the Performance of the MicroPhage S. Aureus/MSSA/MRSA Test Direct From Blood Culture Positives Completed NCT01184339
11 Heart and Muscle Metabolism in Barth Syndrome Recruiting NCT01625663
12 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
13 Exercise in Genetic Cardiovascular Conditions Recruiting NCT02549664
14 Monocyte Profiles in Critically Ill Patients With Pseudomonas Aeruginosa Sepsis Recruiting NCT03044223
15 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304

Search NIH Clinical Center for Barth Syndrome

Cochrane evidence based reviews: barth syndrome

Genetic Tests for Barth Syndrome

Genetic tests related to Barth Syndrome:

id Genetic test Affiliating Genes
1 3-Methylglutaconic Aciduria Type 2 29 24 TAZ

Anatomical Context for Barth Syndrome

MalaCards organs/tissues related to Barth Syndrome:

39
Heart, Skeletal Muscle, Neutrophil, Eye, Testes, Skin, Pituitary

Publications for Barth Syndrome

Articles related to Barth Syndrome:

(show top 50) (show all 156)
id Title Authors Year
1
Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis. ( 28108107 )
2017
2
Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of Barth syndrome. ( 28188263 )
2017
3
Impaired cardiac and skeletal muscle bioenergetics in children, adolescents, and young adults with Barth syndrome. ( 28196853 )
2017
4
The PPAR pan-agonist bezafibrate ameliorates cardiomyopathy in a mouse model of Barth syndrome. ( 28279226 )
2017
5
Glucose Uptake and Triacylglycerol Synthesis Are Increased in Barth Syndrome Lymphoblasts. ( 28097490 )
2017
6
Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy. ( 28070695 )
2017
7
Barth syndrome cardiomyopathy. ( 28158532 )
2017
8
Acquired noncompaction in Barth syndrome due to the TAZ mutation c.481_482ins20. ( 28318529 )
2017
9
New targets for monitoring and therapy in Barth syndrome. ( 26845103 )
2016
10
Defining functional classes of Barth syndrome mutation in humans. ( 26908608 )
2016
11
Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome. ( 27358708 )
2016
12
A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome. ( 28289596 )
2016
13
Endurance Exercise Training in Young Adults with Barth Syndrome: A Pilot Study. ( 27295193 )
2016
14
Loss of protein association causes cardiolipin degradation in Barth syndrome. ( 27348092 )
2016
15
When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription. ( 26853223 )
2016
16
Prospective and Retrospective Diagnosis of Barth Syndrome Aided by Next-Generation Sequencing. ( 27124939 )
2016
17
Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. ( 27015085 )
2016
18
A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome. ( 25776009 )
2015
19
Taste perception and sensory sensitivity: Relationship to feeding problems in boys with Barth Syndrome. ( 26191532 )
2015
20
Cardiolipin metabolism and its causal role in the etiology of the inherited cardiomyopathy Barth syndrome. ( 26415690 )
2015
21
Structural and functional analyses of Barth syndrome-causing mutations and alternative splicing in the tafazzin acyltransferase domain. ( 25941633 )
2015
22
Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience. ( 26337810 )
2015
23
Cardiac-specific succinate dehydrogenase deficiency in Barth syndrome. ( 26697888 )
2015
24
Erratum to: Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. ( 26373950 )
2015
25
Endurance training ameliorates complex 3 deficiency in a mouse model of Barth syndrome. ( 25860817 )
2015
26
Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome. ( 25782672 )
2015
27
Cardiolipin fingerprinting of leukocytes by MALDI-TOF/MS as a screening tool for Barth syndrome. ( 26144817 )
2015
28
Barth Syndrome: From Mitochondrial Dysfunctions Associated with Aberrant Production of Reactive Oxygen Species to Pluripotent Stem Cell Studies. ( 26834781 )
2015
29
Cardiac metabolic pathways affected in the mouse model of barth syndrome. ( 26030409 )
2015
30
Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach. ( 26251611 )
2015
31
The mitochondrial quality control protein yme1 is necessary to prevent defective mitophagy in a yeast model of barth syndrome. ( 25688091 )
2015
32
Tafazzin splice variants and mutations in Barth syndrome. ( 24342716 )
2014
33
Barth syndrome without tetralinoleoyl cardiolipin deficiency: a possible ameliorated phenotype. ( 25112388 )
2014
34
Clinical laboratory studies in Barth Syndrome. ( 24751896 )
2014
35
Pharmacogenomic considerations in the treatment of the pediatric cardiomyopathy called Barth syndrome. ( 25185984 )
2014
36
Mis-sesnse mutations in Tafazzin (TAZ) that escort to mild clinical symptoms of Barth syndrome is owed to the minimal inhibitory effect of the mutations on the enzyme function: In-silico evidence. ( 25118650 )
2014
37
The functions of cardiolipin in cellular metabolism-potential modifiers of the Barth syndrome phenotype. ( 24445246 )
2014
38
Cardiomyopathy, mitochondria and Barth syndrome: iPSCs reveal a connection. ( 24901565 )
2014
39
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies. ( 24813252 )
2014
40
Your heart on a chip: iPSC-based modeling of Barth-syndrome-associated cardiomyopathy. ( 24996164 )
2014
41
Barth syndrome. ( 23398819 )
2013
42
Novel mutations in the TAZ gene in patients with Barth syndrome. ( 24093814 )
2013
43
Natural history of Barth syndrome: a national cohort study of 22 patients. ( 23656970 )
2013
44
Successful mechanical circulatory support for 251 days in a child with intermittent severe neutropenia due to Barth syndrome. ( 23190323 )
2013
45
Cardiolipin deficiency affects respiratory chain function and organization in an induced pluripotent stem cell model of Barth syndrome. ( 23792436 )
2013
46
Barth syndrome. ( 23843353 )
2013
47
Left ventricular noncompaction (LVNC) and low mitochondrial membrane potential are specific for Barth syndrome. ( 23361305 )
2013
48
Diagnosis of Barth syndrome using a novel LC-MS/MS method for leukocyte cardiolipin analysis. ( 23109063 )
2013
49
Barth syndrome in adulthood: a clinical case. ( 22999963 )
2013
50
Barth syndrome in adulthood: a clinical case. ( 23485191 )
2013

Variations for Barth Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Barth Syndrome:

66
id Symbol AA change Variation ID SNP ID
1 TAZ p.Arg94Ser VAR_014110 rs104894942
2 TAZ p.Cys118Arg VAR_014111 rs104894937
3 TAZ p.Gly197Arg VAR_014112 rs132630277
4 TAZ p.Gly240Arg VAR_068434 rs387907218

ClinVar genetic disease variations for Barth Syndrome:

6 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1 TAZ TAZ, IVS2AS, G-A, -1 single nucleotide variant Pathogenic
2 TAZ NM_000116.4(TAZ): c.153C> G (p.Tyr51Ter) single nucleotide variant Pathogenic rs104894941 GRCh37 Chromosome X, 153640466: 153640466
3 TAZ TAZ, IVS2AS, G-C, -1 single nucleotide variant Pathogenic
4 TAZ TAZ, 1-BP INS, NT868 insertion Pathogenic
5 TAZ TAZ, 1-BP DEL deletion Pathogenic
6 TAZ NM_000116.4(TAZ): c.589G> A (p.Gly197Arg) single nucleotide variant Pathogenic rs132630277 GRCh37 Chromosome X, 153648376: 153648376
7 TAZ TAZ, IVS1DS, G-C, +5 single nucleotide variant Pathogenic
8 TAZ TAZ, IVS3DS, G-A, +110 single nucleotide variant Pathogenic
9 TAZ NM_000116.4(TAZ): c.352T> C (p.Cys118Arg) single nucleotide variant Pathogenic rs104894937 GRCh37 Chromosome X, 153641886: 153641886
10 TAZ TAZ, IVS1AS, A-G, -2 single nucleotide variant Pathogenic
11 TAZ NM_000116.4(TAZ): c.280C> A (p.Arg94Ser) single nucleotide variant Pathogenic rs104894942 GRCh37 Chromosome X, 153641585: 153641585
12 TAZ TAZ, 4-BP DEL, AGTG deletion Pathogenic
13 TAZ NM_000116.4(TAZ): c.647-1G> C single nucleotide variant Pathogenic rs587776741 GRCh37 Chromosome X, 153648550: 153648550
14 TAZ NM_000116.4(TAZ): c.718G> A (p.Gly240Arg) single nucleotide variant Pathogenic rs387907218 GRCh37 Chromosome X, 153649015: 153649015
15 TAZ NM_000116.4(TAZ): c.700-1G> A single nucleotide variant Likely pathogenic rs397515747 GRCh38 Chromosome X, 154420657: 154420657
16 TAZ NM_000116.4(TAZ): c.208C> T (p.Gln70Ter) single nucleotide variant Likely pathogenic rs397515738 GRCh37 Chromosome X, 153640521: 153640521
17 TAZ NM_000116.4(TAZ): c.328T> C (p.Ser110Pro) single nucleotide variant Likely pathogenic rs397515739 GRCh37 Chromosome X, 153641862: 153641862
18 TAZ NM_000116.4(TAZ): c.307T> C (p.Cys103Arg) single nucleotide variant Likely pathogenic rs397515740 GRCh37 Chromosome X, 153641841: 153641841
19 TAZ NM_000116.4(TAZ): c.310T> C (p.Phe104Leu) single nucleotide variant Pathogenic rs397515741 GRCh37 Chromosome X, 153641844: 153641844
20 TAZ NM_000116.4(TAZ): c.590G> A (p.Gly197Glu) single nucleotide variant Likely pathogenic rs397515746 GRCh37 Chromosome X, 153648377: 153648377
21 TAZ NM_000116.4(TAZ): c.718G> C (p.Gly240Arg) single nucleotide variant Pathogenic rs387907218 GRCh37 Chromosome X, 153649015: 153649015
22 TAZ NM_000116.4(TAZ): c.823C> T (p.Gln275Ter) single nucleotide variant Likely pathogenic rs397515750 GRCh37 Chromosome X, 153649287: 153649287
23 TAZ NC_000023.10: g.(?_153640181)_(153641904_?)del deletion Likely pathogenic GRCh37 Chromosome X, 153640181: 153641904
24 TAZ NM_000116.4(TAZ): c.347G> A (p.Gly116Asp) single nucleotide variant Likely pathogenic rs727504327 GRCh37 Chromosome X, 153641881: 153641881
25 TAZ NM_000116.4(TAZ): c.710_711delTG (p.Val237Alafs) deletion Pathogenic rs727504394 GRCh37 Chromosome X, 153649007: 153649008
26 TAZ NM_000116.4(TAZ): c.647G> T (p.Gly216Val) single nucleotide variant Likely pathogenic rs727504431 GRCh37 Chromosome X, 153648551: 153648551
27 TAZ NM_000116.4(TAZ): c.227C> G (p.Pro76Arg) single nucleotide variant Likely pathogenic rs878853654 GRCh37 Chromosome X, 153640540: 153640540

Expression for Barth Syndrome

Search GEO for disease gene expression data for Barth Syndrome.

Pathways for Barth Syndrome

Pathways related to Barth Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.59 DNAJC19 TAZ TOMM40

GO Terms for Barth Syndrome

Cellular components related to Barth Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.35 DNAJC19 PLA2G6 SDHA TAZ TOMM40
2 mitochondrial inner membrane GO:0005743 8.92 DNAJC19 SDHA TAZ TOMM40

Biological processes related to Barth Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein targeting to mitochondrion GO:0006626 8.96 DNAJC19 TOMM40
2 cardiolipin biosynthetic process GO:0032049 8.62 PLA2G6 TAZ

Sources for Barth Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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