MCID: FNC009
MIFTS: 53

Fanconi-Bickel Syndrome

Categories: Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Gastrointestinal diseases, Neuronal diseases, Metabolic diseases

Aliases & Classifications for Fanconi-Bickel Syndrome

MalaCards integrated aliases for Fanconi-Bickel Syndrome:

Name: Fanconi-Bickel Syndrome 53 71 36 28 13 51 69
Glycogen Storage Disease Xi 53 49 71 28 13
Lactate Dehydrogenase a Deficiency 53 49 55 71
Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance 53 49 71
Hepatic Glycogenosis with Amino Aciduria and Glucosuria 53 49 71
Hepatorenal Glycogenosis with Renal Fanconi Syndrome 53 49 71
Pseudo-Phlorizin Diabetes 53 49 71
Glycogen Storage Disease Due to Glut2 Deficiency 49 55
Hepatic Glycogenosis with Fanconi Nephropathy 53 71
Lactate Dehydrogenase Deficiency Type a 49 69
Glycogen Storage Disease Type Xi 55 36
Glycogenosis Fanconi Type 49 71
Gsd Xi 53 71
Gsd11 53 71
Fbs 53 71
Glycogen Storage Disease Due to Lactate Dehydrogenase M-Subunit Deficiency 55
Glycogenosis Due to Lactate Dehydrogenase M-Subunit Deficiency 55
Gsd Due to Lactate Dehydrogenase M-Subunit Deficiency 55
Glycogenosis with Glucoaminophosphaturia 69
Glycogenosis Due to Glut2 Deficiency 55
Glycogen Storage Disease Type 11 55
Bickel-Fanconi Glycogenosis 55
Gsd Due to Glut2 Deficiency 55
Glycogen Storage Disease 11 71
Glycogenosis, Fanconi Type 53
Ldh-M Subunit Deficiency 55
Fanconi Bickel Syndrome 49
Lactate Dehydrogenase a 13
Fanconi-Bickel Disease 55
Glycogenosis Type 11 55
Glut2 Deficiency 49
Gsd Type 11 55
Gsd Type Xi 55

Characteristics:

Orphanet epidemiological data:

55
glycogen storage disease due to glut2 deficiency
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;
glycogen storage disease due to lactate dehydrogenase m-subunit deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
glycogen storage disease xi:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance

fanconi-bickel syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Fanconi-Bickel Syndrome

NIH Rare Diseases : 49 Fanconi Bickel syndrome (FBS) is a rare condition characterized by the accumulation of a substance called glycogen in different parts of the body. Glycogen is created when the body needs to store glucose (sugar). When the body needs sugar again, glycogen is transformed back into glucose for use. People with Fanconi Bickel syndrome do not store the appropriate amount of glycogen. Therefore, Fanconi Bickel syndrome is known as a glycogen storage disease. Specifically, glycogen accumulates in the liver and kidneys. Signs and symptoms begin in the first few months of life and include growing slower than expected (failure to thrive), excessive urination (polyuria), and  weakened bones (rickets). Later in life, children may have short stature and a swollen liver and spleen (hepatosplenomegaly).  Fanconi Bickel syndrome is caused by mutations to the SLC2A2 gene and is inherited in an autosomal recessive manner. Diagnosis of FBS is based on a clinical examination that shows signs of FBS. The condition can be confirmed by genetic testing. Treatment is focused on relieving symptoms of the condition, particularly the symptoms that affect the kidneys. Last updated: 2/27/2017

MalaCards based summary : Fanconi-Bickel Syndrome, also known as glycogen storage disease xi, is related to neonatal diabetes mellitus and diabetes mellitus, and has symptoms including myalgia, failure to thrive and global developmental delay. An important gene associated with Fanconi-Bickel Syndrome is SLC2A2 (Solute Carrier Family 2 Member 2), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Pyruvate metabolism. The drugs Neuroserpin and Astragalus have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and bone, and related phenotypes are homeostasis/metabolism and liver/biliary system

OMIM : 53 Fanconi-Bickel syndrome is a rare but well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose (Manz et al., 1987). Because no underlying enzymatic defect in carbohydrate metabolism had been identified and because metabolism of both glucose and galactose is impaired, a primary defect of monosaccharide transport across the membranes had been suggested (Berry et al., 1995; Fellers et al., 1967; Manz et al., 1987; Odievre, 1966). Use of the term glycogenosis type XI introduced by Hug (1987) is to be discouraged because glycogen accumulation is not due to the proposed functional defect of phosphoglucomutase, an essential enzyme in the common degradative pathways of both glycogen and galactose, but is secondary to nonfunctional glucose transport. (227810)

UniProtKB/Swiss-Prot : 71 Fanconi-Bickel syndrome: Rare, well-defined clinical entity, inherited in an autosomal recessive mode and characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose. Glycogen storage disease 11: A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue.

Related Diseases for Fanconi-Bickel Syndrome

Diseases related to Fanconi-Bickel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 neonatal diabetes mellitus 29.2 ABCC8 INS SLC2A2
2 diabetes mellitus 29.1 ABCC8 INS SLC2A2
3 hyperglycemia 28.9 ABCC8 G6PC INS SLC2A2
4 fanconi syndrome 11.2
5 lactate dehydrogenase deficiency 11.2
6 muscular phosphorylase kinase deficiency 11.1
7 hypercalciuria, absorptive, 2 10.2
8 hypophosphatemic rickets, x-linked recessive 10.2
9 rickets 10.2
10 hepatocellular carcinoma 10.1
11 infantile liver failure syndrome 1 10.1
12 cataract 10.1
13 glycogen storage disease 10.1
14 renal tubular acidosis 10.1
15 metabolic acidosis 10.1
16 brain injury 9.9
17 leukemia 9.9
18 conversion disorder 9.9
19 impotence 9.9
20 reunion island larsen syndrome 9.9
21 acquired metabolic disease 9.8 INS SLC2A2
22 hyperuricemia 9.8 G6PC INS
23 factitious disorder 9.7 ABCC8 INS
24 hyperinsulinemic hypoglycemia, familial, 2 9.7 ABCC8 INS
25 acute insulin response 9.7 ABCC8 INS
26 monogenic diabetes 9.7 ABCC8 INS
27 pancreatic agenesis 9.7 ABCC8 INS
28 pancreas disease 9.7 ABCC8 INS
29 diabetes mellitus, transient neonatal, 1 9.6 ABCC8 INS
30 hyperinsulinemic hypoglycemia 9.6 ABCC8 INS
31 diabetes mellitus, permanent neonatal 9.6 ABCC8 INS
32 hyperinsulinism 9.4 ABCC8 INS
33 insulinoma 9.4 ABCC8 INS SLC2A2
34 maturity-onset diabetes of the young 9.4 ABCC8 INS SLC2A2
35 carbohydrate metabolic disorder 9.4 ABCC8 G6PC INS
36 endocrine pancreas disease 9.4 ABCC8 G6PC INS
37 hypoglycemia 9.4 ABCC8 G6PC INS
38 beckwith-wiedemann syndrome 9.3 ABCC8 INS
39 glucose metabolism disease 9.1 ABCC8 G6PC INS SLC2A2
40 diabetes mellitus, noninsulin-dependent 9.0 ABCC8 G6PC INS SLC2A2

Graphical network of the top 20 diseases related to Fanconi-Bickel Syndrome:



Diseases related to Fanconi-Bickel Syndrome

Symptoms & Phenotypes for Fanconi-Bickel Syndrome

Symptoms via clinical synopsis from OMIM:

53
GI:
malabsorption
poor appetite

Skel:
osteomalacia

Abdomen:
distended abdomen

Neuro:
retarded psychomotor development

Lab:
hypophosphatemia
hypokalemia
generalized aminoaciduria
hyperphosphaturia
glucosuria
more
Growth:
thin limbs
poor weight gain
sparse subcutaneous fat

GU:
renal tubular disease

Metabolic:
impaired galactose metabolism


Clinical features from OMIM:

227810 612933

Human phenotypes related to Fanconi-Bickel Syndrome:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 myalgia 31 HP:0003326
2 failure to thrive 31 HP:0001508
3 global developmental delay 31 HP:0001263
4 malabsorption 31 HP:0002024
5 renal insufficiency 31 HP:0000083
6 renal tubular dysfunction 31 HP:0000124
7 hypophosphatemia 31 HP:0002148
8 hypokalemia 31 HP:0002900
9 elevated serum creatine phosphokinase 31 HP:0003236
10 increased serum lactate 31 HP:0002151
11 rigidity 31 HP:0002063
12 muscle cramps 31 HP:0003394
13 osteomalacia 31 HP:0002749
14 abdominal distention 31 HP:0003270
15 increased serum pyruvate 31 HP:0003542
16 exercise intolerance 31 HP:0003546
17 glycosuria 31 HP:0003076
18 elevated alkaline phosphatase 31 HP:0003155
19 poor appetite 31 HP:0004396
20 muscle stiffness 31 HP:0003552
21 reduced subcutaneous adipose tissue 31 HP:0003758
22 myoglobinuria 31 HP:0002913
23 rhabdomyolysis 31 HP:0003201
24 generalized aminoaciduria 31 HP:0002909
25 hyperphosphaturia 31 HP:0003109
26 impairment of galactose metabolism 31 HP:0004915
27 hypouricemia 31 HP:0003537
28 chronic acidosis 31 HP:0012468

UMLS symptoms related to Fanconi-Bickel Syndrome:


muscle cramp, muscle rigidity, muscular stiffness, myalgia

MGI Mouse Phenotypes related to Fanconi-Bickel Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 ABCC8 G6PC INS LDHA SLC2A2
2 liver/biliary system MP:0005370 8.92 INS LDHA SLC2A2 G6PC

Drugs & Therapeutics for Fanconi-Bickel Syndrome

Drugs for Fanconi-Bickel Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Neuroserpin
2 Astragalus Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Fanconi-Bickel Syndrome

Genetic Tests for Fanconi-Bickel Syndrome

Genetic tests related to Fanconi-Bickel Syndrome:

# Genetic test Affiliating Genes
1 Fanconi-Bickel Syndrome 28 SLC2A2
2 Glycogen Storage Disease Xi 28 LDHA

Anatomical Context for Fanconi-Bickel Syndrome

MalaCards organs/tissues related to Fanconi-Bickel Syndrome:

38
Liver, Kidney, Bone, Testes, Spleen

Publications for Fanconi-Bickel Syndrome

Articles related to Fanconi-Bickel Syndrome:

(show top 50) (show all 55)
# Title Authors Year
1
Hepatocellular Carcinoma in Fanconi-Bickel Syndrome. ( 28382841 )
2017
2
Glycosuria and hyperglycemia in the neonatal period as the first clinical sign of Fanconi-Bickel syndrome. ( 28493372 )
2017
3
Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2). ( 27169150 )
2016
4
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation. ( 27487919 )
2016
5
Fanconi Bickel Syndrome with Hypercalciuria due to GLUT 2 Mutation. ( 27771652 )
2016
6
Fanconi-Bickel Syndrome: Another Novel Mutation in SLC2A2. ( 27738794 )
2016
7
Fanconi-Bickel Syndrome: Two Pakistani Patients Presenting with Hypophosphatemic Rickets. ( 27617158 )
2016
8
[SLC2A2 gene analysis in three Chinese children with Fanconi-Bickel syndrome]. ( 25919556 )
2015
9
Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family. ( 25523092 )
2015
10
Fanconi-Bickel Syndrome - Mutation in SLC2A2 Gene. ( 24912437 )
2014
11
Phenotypic Variability in Patients with Fanconi-Bickel Syndrome with Identical Mutations. ( 24718840 )
2014
12
Acute metabolic acidosis in a GLUT2-deficient patient with Fanconi-Bickel syndrome: new pathophysiology insights. ( 25165176 )
2014
13
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature. ( 23901198 )
2013
14
An Indian girl with Fanconi-Bickel syndrome without SLC2A2 gene mutation. ( 27625848 )
2013
15
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering. ( 22350464 )
2012
16
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. ( 22214819 )
2012
17
Fanconi- Bickel Syndrome: mutation in an Indian patient. ( 21972075 )
2012
18
Transient neonatal diabetes as a presentation of Fanconi- Bickel Syndrome. ( 23456528 )
2012
19
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. ( 22865906 )
2012
20
Fanconi-Bickel syndrome. ( 21327337 )
2012
21
Fanconi-Bickel syndrome as an example of marked allelic heterogeneity. ( 24175243 )
2012
22
A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri. ( 23271022 )
2012
23
Fanconi-Bickel syndrome: report of life history and successful pregnancy in an affected patient. ( 21271664 )
2011
24
Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis. ( 21739588 )
2011
25
Two cases of Fanconi-Bickel syndrome: first report from China with novel mutations of SLC2A2 gene. ( 22145468 )
2011
26
Fanconi-Bickel syndrome in a 3-year-old Indian boy with a novel mutation in the GLUT2 gene. ( 21625891 )
2011
27
Fanconi Bickel Syndrome: Novel Mutations in GLUT 2 Gene Causing a Distinguished Form of Renal Tubular Acidosis in Two Unrelated Egyptian Families. ( 24533196 )
2011
28
Fanconi-Bickel syndrome and fertility. ( 21910231 )
2011
29
Hypophosphatemic rickets: presenting features of fanconi-bickel syndrome. ( 22937383 )
2011
30
A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome. ( 19480329 )
2009
31
Fanconi-Bickel syndrome--two cases report. ( 18626436 )
2008
32
Hyperglycemia and hypoinsulinemia in patients with Fanconi-Bickel syndrome. ( 18717244 )
2008
33
Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3. ( 17539904 )
2007
34
Fanconi-Bickel syndrome. ( 17413201 )
2007
35
Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome. ( 16906471 )
2006
36
Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations. ( 16052858 )
2005
37
A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia. ( 15243984 )
2004
38
The Fanconi-Bickel syndrome: a case of neonatal onset. ( 15116130 )
2004
39
No mutation in the SLC2A2 ( GLUT2) gene in a Turkish infant with Fanconi-Bickel syndrome. ( 12700970 )
2003
40
Identification of a novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome presenting with neonatal diabetes mellitus and galactosaemia. ( 12029458 )
2002
41
Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport. ( 11949937 )
2002
42
A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome. ( 12408187 )
2002
43
A novel mutation (N32K) of GLUT2 gene in a Japanese patient with Fanconi-Bickel syndrome. ( 12220445 )
2002
44
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. ( 11810292 )
2002
45
Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome. ( 10697967 )
2000
46
Mutation analysis of the GLUT2 gene in patients with Fanconi-Bickel syndrome. ( 11044475 )
2000
47
Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome). ( 11074862 )
2000
48
A newly recognized missense mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome. ( 11079206 )
2000
49
Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism. ( 9686354 )
1998
50
Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature. ( 9809815 )
1998

Variations for Fanconi-Bickel Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Fanconi-Bickel Syndrome:

71
# Symbol AA change Variation ID SNP ID
1 SLC2A2 p.Leu389Pro VAR_018651 rs121909747
2 SLC2A2 p.Pro417Leu VAR_018652 rs121909744
3 SLC2A2 p.Val423Glu VAR_018653 rs28928874

ClinVar genetic disease variations for Fanconi-Bickel Syndrome:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 LDHA LDHA, 20-BP DEL, EX6 deletion Pathogenic
2 SLC2A2 SLC2A2, 1-BP DEL deletion Pathogenic
3 SLC2A2 NM_000340.1(SLC2A2): c.1093C> T (p.Arg365Ter) single nucleotide variant Pathogenic rs121909742 GRCh37 Chromosome 3, 170716931: 170716931
4 SLC2A2 NM_000340.1(SLC2A2): c.901C> T (p.Arg301Ter) single nucleotide variant Pathogenic rs121909743 GRCh37 Chromosome 3, 170723136: 170723136
5 SLC2A2 SLC2A2, 1405C-T single nucleotide variant Pathogenic
6 SLC2A2 NM_000340.1(SLC2A2): c.1250C> T (p.Pro417Leu) single nucleotide variant Pathogenic rs121909744 GRCh37 Chromosome 3, 170716106: 170716106
7 SLC2A2 NM_000340.1(SLC2A2): c.1259G> A (p.Trp420Ter) single nucleotide variant Pathogenic rs121909745 GRCh37 Chromosome 3, 170716097: 170716097
8 SLC2A2 SLC2A2, 1-BP DEL, 1363G deletion Pathogenic
9 SLC2A2 SLC2A2, 1-BP INS, 793C insertion Pathogenic
10 SLC2A2 SLC2A2, 1264G-A single nucleotide variant Pathogenic
11 SLC2A2 SLC2A2, 469C-T single nucleotide variant Pathogenic
12 SLC2A2 NM_000340.1(SLC2A2): c.1268T> A (p.Val423Glu) single nucleotide variant Pathogenic rs28928874 GRCh37 Chromosome 3, 170716088: 170716088
13 SLC2A2 SLC2A2, IVS2AS, A-G, -2 single nucleotide variant Pathogenic
14 SLC2A2 NM_000340.1(SLC2A2): c.859C> T (p.Gln287Ter) single nucleotide variant Pathogenic rs121909746 GRCh37 Chromosome 3, 170723178: 170723178
15 SLC2A2 NM_000340.1(SLC2A2): c.1166T> C (p.Leu389Pro) single nucleotide variant Pathogenic rs121909747 GRCh37 Chromosome 3, 170716858: 170716858
16 SLC2A2 NM_000340.1(SLC2A2): c.625G> T (p.Glu209Ter) single nucleotide variant Pathogenic rs1114167428 GRCh37 Chromosome 3, 170723882: 170723882
17 SLC2A2 NM_000340.1(SLC2A2): c.1246G> A (p.Gly416Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 170716110: 170716110
18 SLC2A2 NM_000340.1(SLC2A2): c.239delC (p.Pro80Leufs) deletion Pathogenic rs769888108 GRCh37 Chromosome 3, 170732390: 170732390

Copy number variations for Fanconi-Bickel Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 32795 1 39600000 43900000 Deletion SLC2A1 GLUT2 deficiency syndrome

Expression for Fanconi-Bickel Syndrome

Search GEO for disease gene expression data for Fanconi-Bickel Syndrome.

Pathways for Fanconi-Bickel Syndrome

Pathways related to Fanconi-Bickel Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Glycolysis / Gluconeogenesis hsa00010
2 Pyruvate metabolism hsa00620
3 Insulin secretion hsa04911
4 Carbohydrate digestion and absorption hsa04973

Pathways related to Fanconi-Bickel Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 ABCC8 G6PC INS LDHA SLC2A2
2
Show member pathways
12.34 ABCC8 INS SLC2A2
3
Show member pathways
12.19 G6PC LDHA SLC2A2
4
Show member pathways
11.91 ABCC8 INS SLC2A2
5
Show member pathways
11.72 G6PC INS
6 11.69 INS SLC2A2
7
Show member pathways
11.65 INS SLC2A2
8
Show member pathways
11.54 G6PC SLC2A2
9
Show member pathways
11.54 G6PC INS SLC2A2
10 11.52 INS LDHA
11
Show member pathways
11.51 INS SLC2A2
12 11.45 G6PC LDHA SLC2A2
13
Show member pathways
11.31 ABCC8 INS SLC2A2
14 11.29 LDHA SLC2A2
15 11.19 LDHA SLC2A2
16 11.05 G6PC SLC2A2
17 10.57 ABCC8 G6PC INS SLC2A2
18 10.34 INS LDHA SLC2A2

GO Terms for Fanconi-Bickel Syndrome

Biological processes related to Fanconi-Bickel Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 9.26 G6PC INS
2 regulation of insulin secretion GO:0050796 9.16 ABCC8 SLC2A2
3 glucose transport GO:0015758 8.96 INS SLC2A2
4 carbohydrate metabolic process GO:0005975 8.8 INS LDHA SLC2A2

Sources for Fanconi-Bickel Syndrome

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