THMD2
MCID: THM010
MIFTS: 44

Thiamine Metabolism Dysfunction Syndrome 2 (THMD2)

Categories: Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Thiamine Metabolism Dysfunction Syndrome 2

MalaCards integrated aliases for Thiamine Metabolism Dysfunction Syndrome 2:

Name: Thiamine Metabolism Dysfunction Syndrome 2 58 13
Biotin-Responsive Basal Ganglia Disease 12 60 76 38 15
Basal Ganglia Disease, Biotin-Responsive 58 45 74
Btbgd 58 60 76
Bbgd 58 60 76
Thiamine-Responsive Encephalopathy 60 76
Thmd2 58 76
Thiamine Metabolism Dysfunction Syndrome 2, Biotin- or Thiamine-Responsive Type 76
Biotin-Thiamine-Responsive Basal Ganglia Disease 60
Thiamine Metabolism Dysfunction Syndrome, Type 2 41
Basal Ganglia Disease, Biotin-Responsive; Bbgd 58
Encephalopathy, Thiamine-Responsive 58

Characteristics:

Orphanet epidemiological data:

60
thiamine-responsive encephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
biotin-thiamine-responsive basal ganglia disease
Inheritance: Autosomal recessive;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset (birth to adolescence)
may be precipitated by minor illness (e.g., viral infection, fever)
responsive to high-dose biotin or biotin/thiamine treatment
dystonia and seizures may persist after resolution of episodes


HPO:

33
thiamine metabolism dysfunction syndrome 2:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thiamine Metabolism Dysfunction Syndrome 2

OMIM : 58 Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010). For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (249270). (607483)

MalaCards based summary : Thiamine Metabolism Dysfunction Syndrome 2, also known as biotin-responsive basal ganglia disease, is related to basal ganglia disease and biotin-thiamine-responsive basal ganglia disease, and has symptoms including ataxia, dysphagia and dystonia. An important gene associated with Thiamine Metabolism Dysfunction Syndrome 2 is SLC19A3 (Solute Carrier Family 19 Member 3), and among its related pathways/superpathways are Vitamin digestion and absorption and Metabolism. Affiliated tissues include brain, and related phenotypes are global developmental delay and psychomotor retardation

Disease Ontology : 12 A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has symptom confusion, has symptom seizure, has symptom ataxia, has symptom dystonia, has symptom supranuclear facial palsy, has symptom external ophthalmoplegia, and has symptom dysphagia.

UniProtKB/Swiss-Prot : 76 Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type: An autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia.

Related Diseases for Thiamine Metabolism Dysfunction Syndrome 2

Graphical network of the top 20 diseases related to Thiamine Metabolism Dysfunction Syndrome 2:



Diseases related to Thiamine Metabolism Dysfunction Syndrome 2

Symptoms & Phenotypes for Thiamine Metabolism Dysfunction Syndrome 2

Human phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2:

33 (show all 25)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 33 occasional (7.5%) HP:0001263
2 psychomotor retardation 33 very rare (1%) HP:0025356
3 ptosis 33 HP:0000508
4 nystagmus 33 HP:0000639
5 seizures 33 HP:0001250
6 dysarthria 33 HP:0001260
7 dysphagia 33 HP:0002015
8 hypertonia 33 HP:0001276
9 fever 33 HP:0001945
10 irritability 33 HP:0000737
11 gait ataxia 33 HP:0002066
12 babinski sign 33 HP:0003487
13 dystonia 33 HP:0001332
14 inability to walk 33 HP:0002540
15 rigidity 33 HP:0002063
16 confusion 33 HP:0001289
17 coma 33 HP:0001259
18 encephalopathy 33 HP:0001298
19 external ophthalmoplegia 33 HP:0000544
20 paraparesis 33 HP:0002385
21 muscular hypotonia of the trunk 33 HP:0008936
22 abnormality of the basal ganglia 33 HP:0002134
23 mutism 33 HP:0002300
24 craniofacial dystonia 33 HP:0012179
25 morphological abnormality of the pyramidal tract 33 HP:0002062

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
nystagmus
external ophthalmoplegia
gaze palsy

Abdomen Gastrointestinal:
dysphagia
swallowing difficulties

Neurologic Central Nervous System:
seizures
dysarthria
irritability
gait ataxia
dystonia
more
Head And Neck Face:
facial dystonia

Clinical features from OMIM:

607483

Symptoms:

12
  • ataxia
  • dysphagia
  • dystonia
  • confusion
  • external ophthalmoplegia
  • seizure
  • supranuclear facial palsy

UMLS symptoms related to Thiamine Metabolism Dysfunction Syndrome 2:


seizures, gait ataxia, paraparesis, muscle rigidity, abnormal pyramidal signs

MGI Mouse Phenotypes related to Thiamine Metabolism Dysfunction Syndrome 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.76 FOLR1 GCH1 SLC19A1 SLC19A2 SLC19A3 SLC46A1
2 digestive/alimentary MP:0005381 9.65 FOLR1 SLC19A1 SLC19A2 SLC19A3 SLC5A6
3 mortality/aging MP:0010768 9.5 FOLR1 GCH1 SLC19A1 SLC19A2 SLC19A3 SLC5A6
4 nervous system MP:0003631 9.1 FOLR1 GCH1 SLC19A2 SLC19A3 SLC5A6 TOR1A

Drugs & Therapeutics for Thiamine Metabolism Dysfunction Syndrome 2

Search Clinical Trials , NIH Clinical Center for Thiamine Metabolism Dysfunction Syndrome 2

Cochrane evidence based reviews: basal ganglia disease, biotin-responsive

Genetic Tests for Thiamine Metabolism Dysfunction Syndrome 2

Anatomical Context for Thiamine Metabolism Dysfunction Syndrome 2

MalaCards organs/tissues related to Thiamine Metabolism Dysfunction Syndrome 2:

42
Brain

Publications for Thiamine Metabolism Dysfunction Syndrome 2

Articles related to Thiamine Metabolism Dysfunction Syndrome 2:

(show all 16)
# Title Authors Year
1
Depression in adult patients with biotin responsive basal ganglia disease. ( 27534451 )
2016
2
Teaching NeuroImages: Biotin-responsive basal ganglia disease. ( 27164647 )
2016
3
Teaching NeuroImages: MRI findings of biotin-responsive basal ganglia disease before and after treatment. ( 26880816 )
2016
4
Treatment of biotin-responsive basal ganglia disease: Open comparative study between the combination of biotin plus thiamine versus thiamine alone. ( 26095097 )
2015
5
Biotin-responsive basal ganglia disease: a case diagnosed by whole exome sequencing. ( 25876998 )
2015
6
Biotin-responsive basal ganglia disease: neuroimaging features before and after treatment. ( 24812013 )
2014
7
Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome. ( 24166474 )
2014
8
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. ( 23742248 )
2013
9
Bilateral external ophthalmoplegia in biotin-responsive basal ganglia disease. ( 23360564 )
2013
10
Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings. ( 23269594 )
2013
11
Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. ( 20065143 )
2010
12
Biotin-responsive basal ganglia disease: a treatable and reversible neurological disorder of childhood. ( 19491117 )
2009
13
Biotin-responsive basal ganglia disease: case report and review of the literature. ( 19294600 )
2008
14
Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2. ( 16790503 )
2006
15
Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. ( 15871139 )
2005
16
Biotin-responsive basal ganglia disease: a novel entity. ( 9679779 )
1998

Variations for Thiamine Metabolism Dysfunction Syndrome 2

UniProtKB/Swiss-Prot genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 2:

76
# Symbol AA change Variation ID SNP ID
1 SLC19A3 p.Gly23Val VAR_025992 rs121917882
2 SLC19A3 p.Thr422Ala VAR_025993 rs121917884

ClinVar genetic disease variations for Thiamine Metabolism Dysfunction Syndrome 2:

6 (show top 50) (show all 133)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC19A3 NM_025243.3(SLC19A3): c.68G> T (p.Gly23Val) single nucleotide variant Pathogenic rs121917882 GRCh37 Chromosome 2, 228566967: 228566967
2 SLC19A3 NM_025243.3(SLC19A3): c.68G> T (p.Gly23Val) single nucleotide variant Pathogenic rs121917882 GRCh38 Chromosome 2, 227702251: 227702251
3 SLC19A3 NM_025243.3(SLC19A3): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs786205213 GRCh38 Chromosome 2, 227702245: 227702245
4 SLC19A3 NM_025243.3(SLC19A3): c.74dupT (p.Ser26Leufs) duplication Pathogenic rs786205213 GRCh37 Chromosome 2, 228566961: 228566961
5 SLC19A3 NM_025243.3(SLC19A3): c.546G> A (p.Val182=) single nucleotide variant Benign/Likely benign rs143188189 GRCh37 Chromosome 2, 228563885: 228563885
6 SLC19A3 NM_025243.3(SLC19A3): c.546G> A (p.Val182=) single nucleotide variant Benign/Likely benign rs143188189 GRCh38 Chromosome 2, 227699169: 227699169
7 SLC19A3 NM_025243.3(SLC19A3): c.1379_1381dupTTA (p.Ile460_Thr461insIle) duplication Uncertain significance rs756676536 GRCh37 Chromosome 2, 228552223: 228552225
8 SLC19A3 NM_025243.3(SLC19A3): c.1379_1381dupTTA (p.Ile460_Thr461insIle) duplication Uncertain significance rs756676536 GRCh38 Chromosome 2, 227687507: 227687509
9 SLC19A3 NM_025243.3(SLC19A3): c.1112C> T (p.Ala371Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142166552 GRCh37 Chromosome 2, 228560665: 228560665
10 SLC19A3 NM_025243.3(SLC19A3): c.1112C> T (p.Ala371Val) single nucleotide variant Conflicting interpretations of pathogenicity rs142166552 GRCh38 Chromosome 2, 227695949: 227695949
11 SLC19A3 NM_025243.3(SLC19A3): c.621A> G (p.Ile207Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145804755 GRCh37 Chromosome 2, 228563810: 228563810
12 SLC19A3 NM_025243.3(SLC19A3): c.621A> G (p.Ile207Met) single nucleotide variant Conflicting interpretations of pathogenicity rs145804755 GRCh38 Chromosome 2, 227699094: 227699094
13 SLC19A3 NM_025243.3(SLC19A3): c.557T> C (p.Phe186Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116533505 GRCh37 Chromosome 2, 228563874: 228563874
14 SLC19A3 NM_025243.3(SLC19A3): c.557T> C (p.Phe186Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs116533505 GRCh38 Chromosome 2, 227699158: 227699158
15 SLC19A3 NM_025243.3(SLC19A3): c.801A> G (p.Gln267=) single nucleotide variant Conflicting interpretations of pathogenicity rs147205930 GRCh37 Chromosome 2, 228563630: 228563630
16 SLC19A3 NM_025243.3(SLC19A3): c.801A> G (p.Gln267=) single nucleotide variant Conflicting interpretations of pathogenicity rs147205930 GRCh38 Chromosome 2, 227698914: 227698914
17 SLC19A3 NM_025243.3(SLC19A3): c.1145G> A (p.Ser382Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145288025 GRCh37 Chromosome 2, 228560632: 228560632
18 SLC19A3 NM_025243.3(SLC19A3): c.1145G> A (p.Ser382Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs145288025 GRCh38 Chromosome 2, 227695916: 227695916
19 SLC19A3 NM_025243.3(SLC19A3): c.399C> G (p.Pro133=) single nucleotide variant Conflicting interpretations of pathogenicity rs138363524 GRCh37 Chromosome 2, 228564032: 228564032
20 SLC19A3 NM_025243.3(SLC19A3): c.399C> G (p.Pro133=) single nucleotide variant Conflicting interpretations of pathogenicity rs138363524 GRCh38 Chromosome 2, 227699316: 227699316
21 SLC19A3 NM_025243.3(SLC19A3): c.-4404_-3+408del deletion Pathogenic GRCh38 Chromosome 2, 227717535: 227722344
22 SLC19A3 NM_025243.3(SLC19A3): c.-4404_-3+408del deletion Pathogenic GRCh37 Chromosome 2, 228582251: 228587060
23 SLC19A3 NM_025243.3(SLC19A3): c.980-14A> G single nucleotide variant Pathogenic rs200542114 GRCh37 Chromosome 2, 228560811: 228560811
24 SLC19A3 NM_025243.3(SLC19A3): c.980-14A> G single nucleotide variant Pathogenic rs200542114 GRCh38 Chromosome 2, 227696095: 227696095
25 SLC19A3 NM_025243.3(SLC19A3): c.697C> G (p.Pro233Ala) single nucleotide variant Uncertain significance rs756864477 GRCh37 Chromosome 2, 228563734: 228563734
26 SLC19A3 NM_025243.3(SLC19A3): c.697C> G (p.Pro233Ala) single nucleotide variant Uncertain significance rs756864477 GRCh38 Chromosome 2, 227699018: 227699018
27 SLC19A3 NM_025243.3(SLC19A3): c.541T> C (p.Ser181Pro) single nucleotide variant Pathogenic rs773971505 GRCh38 Chromosome 2, 227699174: 227699174
28 SLC19A3 NM_025243.3(SLC19A3): c.1193T> G (p.Leu398Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 227688287: 227688287
29 SLC19A3 NM_025243.3(SLC19A3): c.1193T> G (p.Leu398Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 228553003: 228553003
30 SLC19A3 NM_025243.3(SLC19A3): c.1256C> A (p.Thr419Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 228552940: 228552940
31 SLC19A3 NM_025243.3(SLC19A3): c.1256C> A (p.Thr419Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 227688224: 227688224
32 SLC19A3 NM_025243.3(SLC19A3): c.1089G> A (p.Met363Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 227695972: 227695972
33 SLC19A3 NM_025243.3(SLC19A3): c.1089G> A (p.Met363Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 228560688: 228560688
34 SLC19A3 NM_025243.3(SLC19A3): c.862G> A (p.Ala288Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 227698853: 227698853
35 SLC19A3 NM_025243.3(SLC19A3): c.862G> A (p.Ala288Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 228563569: 228563569
36 SLC19A3 NM_025243.3(SLC19A3): c.400G> A (p.Glu134Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 227699315: 227699315
37 SLC19A3 NM_025243.3(SLC19A3): c.400G> A (p.Glu134Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 228564031: 228564031
38 SLC19A3 NM_025243.3(SLC19A3): c.275T> C (p.Ile92Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 228564156: 228564156
39 SLC19A3 NM_025243.3(SLC19A3): c.275T> C (p.Ile92Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 227699440: 227699440
40 SLC19A3 NM_025243.3(SLC19A3): c.111delA (p.Tyr38Ilefs) deletion Likely pathogenic GRCh38 Chromosome 2, 227702208: 227702208
41 SLC19A3 NM_025243.3(SLC19A3): c.111delA (p.Tyr38Ilefs) deletion Likely pathogenic GRCh37 Chromosome 2, 228566924: 228566924
42 SLC19A3 NM_025243.3(SLC19A3): c.494C> A (p.Ala165Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 228563937: 228563937
43 SLC19A3 NM_025243.3(SLC19A3): c.494C> A (p.Ala165Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 227699221: 227699221
44 SLC19A3 NM_025243.3(SLC19A3): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 228560753: 228560753
45 SLC19A3 NM_025243.3(SLC19A3): c.1024G> A (p.Asp342Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 227696037: 227696037
46 SLC19A3 NM_025243.3(SLC19A3): c.1079dup (p.Leu360Phefs) duplication Pathogenic GRCh37 Chromosome 2, 228560698: 228560698
47 SLC19A3 NM_025243.3(SLC19A3): c.1079dup (p.Leu360Phefs) duplication Pathogenic GRCh38 Chromosome 2, 227695982: 227695982
48 SLC19A3 NM_025243.3(SLC19A3): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs147502239 GRCh37 Chromosome 2, 228563995: 228563995
49 SLC19A3 NM_025243.3(SLC19A3): c.436G> A (p.Val146Ile) single nucleotide variant Uncertain significance rs147502239 GRCh38 Chromosome 2, 227699279: 227699279
50 SLC19A3 NM_025243.3(SLC19A3): c.587G> A (p.Ser196Asn) single nucleotide variant Uncertain significance rs892057479 GRCh38 Chromosome 2, 227699128: 227699128

Expression for Thiamine Metabolism Dysfunction Syndrome 2

Search GEO for disease gene expression data for Thiamine Metabolism Dysfunction Syndrome 2.

Pathways for Thiamine Metabolism Dysfunction Syndrome 2

Pathways related to Thiamine Metabolism Dysfunction Syndrome 2 according to KEGG:

38
# Name Kegg Source Accession
1 Vitamin digestion and absorption hsa04977

Pathways related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.56 FOLR2 GCH1 SLC19A1 SLC19A2 SLC19A3 SLC46A1
2
Show member pathways
12.24 FOLR2 SLC19A1 SLC19A2 SLC19A3 SLC46A1 SLC5A6
3
Show member pathways
11.96 FOLR1 FOLR2 SLC19A1 SLC46A1
4 10.75 FOLR1 FOLR2 SLC19A1 SLC46A1
5
Show member pathways
10.73 FOLR1 SLC19A1 SLC46A1
6 10.4 SLC19A1 SLC19A2 SLC19A3 SLC46A1 SLC5A6

GO Terms for Thiamine Metabolism Dysfunction Syndrome 2

Cellular components related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.8 FOLR1 FOLR2 SLC19A1 SLC19A2 SLC19A3 SLC46A1
2 apical plasma membrane GO:0016324 9.33 FOLR1 SLC19A1 SLC46A1
3 anchored component of external side of plasma membrane GO:0031362 8.96 FOLR1 FOLR2
4 brush border membrane GO:0031526 8.8 FOLR1 SLC46A1 SLC5A6

Biological processes related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.85 SLC19A1 SLC19A2 SLC19A3 SLC46A1 SLC5A6
2 vitamin transport GO:0051180 9.5 SLC19A1 SLC19A2 SLC19A3
3 thiamine-containing compound metabolic process GO:0042723 9.49 SLC19A2 SLC19A3
4 thiamine transmembrane transport GO:0071934 9.48 SLC19A2 SLC19A3
5 folic acid metabolic process GO:0046655 9.46 FOLR1 FOLR2 SLC19A1 SLC46A1
6 thiamine transport GO:0015888 9.43 SLC19A2 SLC19A3
7 vitamin transmembrane transport GO:0035461 9.43 SLC19A1 SLC19A2 SLC19A3
8 cellular response to folic acid GO:0071231 9.4 FOLR1 FOLR2
9 methotrexate transport GO:0051958 9.37 SLC19A1 SLC46A1
10 folate import across plasma membrane GO:1904447 9.26 FOLR1 FOLR2 SLC19A1 SLC46A1
11 folic acid transport GO:0015884 9.02 FOLR1 FOLR2 SLC19A1 SLC19A2 SLC46A1

Molecular functions related to Thiamine Metabolism Dysfunction Syndrome 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 drug binding GO:0008144 9.43 FOLR1 FOLR2
2 methotrexate binding GO:0051870 9.4 FOLR1 FOLR2
3 thiamine transmembrane transporter activity GO:0015234 9.37 SLC19A2 SLC19A3
4 folic acid transmembrane transporter activity GO:0008517 9.33 SLC19A1 SLC19A2 SLC46A1
5 folic acid receptor activity GO:0061714 9.32 FOLR1 FOLR2
6 methotrexate transmembrane transporter activity GO:0015350 9.26 SLC19A1 SLC46A1
7 vitamin transmembrane transporter activity GO:0090482 9.13 SLC19A1 SLC19A2 SLC19A3
8 folic acid binding GO:0005542 8.92 FOLR1 FOLR2 SLC19A1 SLC46A1

Sources for Thiamine Metabolism Dysfunction Syndrome 2

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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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