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CSID
MCID: SCR037
MIFTS: 36

Sucrase-Isomaltase Deficiency, Congenital (CSID)

Categories: Gastrointestinal diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Sucrase-Isomaltase Deficiency, Congenital

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MalaCards integrated aliases for Sucrase-Isomaltase Deficiency, Congenital:

Name: Sucrase-Isomaltase Deficiency, Congenital 57 53 13 40 73
Congenital Sucrase-Isomaltase Deficiency 53 25 59 75 37
Csid 57 53 25 59 75
Sucrase-Isomaltase Deficiency 25 29 6
Disaccharide Intolerance I 57 25 75
Disaccharide Intolerance 59 55 73
Si Deficiency 57 53 25
Congenital Sucrose Intolerance 25 59
Sucrose-Isomaltose Malabsorption, Congenital 57
Sucrose-Isomaltase Malabsorption, Congenital 53
Congenital Sucrose-Isomaltase Malabsorption 53
Congenital Sucrose Isomaltose Malabsorption 53
Congenital Sucrose-Isomaltose Malabsorption 25
Congenital Sucrase-Isomaltose Malabsorption 59
Sucrose Isomaltose Enzyme Deficiency 53
Sucrose Intolerance, Congenital 57
Sucrose Intolerance Congenital 53
Disaccharide Intolerance, 1 53
Sucrase-Isomaltase 13

Characteristics:

Orphanet epidemiological data:

59
congenital sucrase-isomaltase deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
sucrase-isomaltase deficiency, congenital:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare gastroenterological diseases
Inborn errors of metabolism


External Ids:

OMIM 57 222900
Orphanet 59 ORPHA35122
ICD10 via Orphanet 34 E74.3
MESH via Orphanet 45 C538139
UMLS via Orphanet 74 C1283620
MedGen 42 C1283620
KEGG 37 H00115
Sources

Summaries for Sucrase-Isomaltase Deficiency, Congenital

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NIH Rare Diseases : 53 Congenital sucrase-isomaltase deficiency (CSID) is a genetic condition that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains). CSID usually becomes apparent after an infant begins to consume fruits, juices, and grains. After ingestion of sucrose or maltose, an affected child will typically experience stomach cramps, bloating, excess gas production, and diarrhea. These digestive problems can lead to failure to thrive and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. CSID is inherited in an autosomal recessive pattern and is caused by mutations in the SI gene.

MalaCards based summary : Sucrase-Isomaltase Deficiency, Congenital, also known as congenital sucrase-isomaltase deficiency, is related to global disaccharide intolerance and lactase deficiency, congenital. An important gene associated with Sucrase-Isomaltase Deficiency, Congenital is SI (Sucrase-Isomaltase), and among its related pathways/superpathways is Starch and sucrose metabolism. Affiliated tissues include small intestine, testes and colon, and related phenotypes are vomiting and diarrhea

Genetics Home Reference : 25 Congenital sucrase-isomaltase deficiency is a disorder that affects a person's ability to digest certain sugars. People with this condition cannot break down the sugars sucrose and maltose. Sucrose (a sugar found in fruits, and also known as table sugar) and maltose (the sugar found in grains) are called disaccharides because they are made of two simple sugars. Disaccharides are broken down into simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and maltose is broken down into two glucose molecules. People with congenital sucrase-isomaltase deficiency cannot break down the sugars sucrose and maltose, and other compounds made from these sugar molecules (carbohydrates).

UniProtKB/Swiss-Prot : 75 Congenital sucrase-isomaltase deficiency: Autosomal recessive intestinal disorder that is clinically characterized by fermentative diarrhea, abdominal pain, and cramps upon ingestion of sugar. The symptoms are the consequence of absent or drastically reduced enzymatic activities of sucrase and isomaltase. The prevalence of CSID is 0.02 % in individuals of European descent and appears to be much higher in Greenland, Alaskan, and Canadian native people. CSID arises due to post-translational perturbations in the intracellular transport, polarized sorting, aberrant processing, and defective function of SI.

Wikipedia : 76 Sucrose intolerance, also called sucrase-isomaltase deficiency,congenital sucrase-isomaltase deficiency... more...

Description from OMIM: 222900
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Related Diseases for Sucrase-Isomaltase Deficiency, Congenital

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Diseases related to Sucrase-Isomaltase Deficiency, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 global disaccharide intolerance 12.3
2 lactase deficiency, congenital 11.4
3 lactose intolerance, adult type 11.4
4 congenital sucrase-isomaltase deficiency with starch intolerance 11.0
5 congenital sucrase-isomaltase deficiency without starch intolerance 11.0
6 congenital sucrase-isomaltase deficiency with minimal starch tolerance 11.0
7 congenital sucrase-isomaltase deficiency with starch and lactose intolerance 11.0
8 congenital sucrase-isomaltase deficiency without sucrose intolerance 11.0
9 adenocarcinoma 10.5
10 colorectal adenoma 10.5
11 irritable bowel syndrome 10.5
12 nephrocalcinosis 10.3
13 diarrhea 10.3
14 intestinal disaccharidase deficiency 10.3
15 leukemia, chronic lymphocytic 2 10.3
16 colorectal cancer 10.3
17 ichthyosis bullosa of siemens 10.3
18 leukemia, chronic lymphocytic 10.3
19 diabetes mellitus 10.3
20 leukemia 10.3
21 ulcerative colitis 10.3
22 colitis 10.3
23 lymphocytic leukemia 10.3
24 colon adenocarcinoma 10.3
25 barrett's adenocarcinoma 10.3
26 leukemia, b-cell, chronic 10.3
27 cystic fibrosis 10.2
28 protein-energy malnutrition 10.0
29 aminoaciduria 10.0

Graphical network of the top 20 diseases related to Sucrase-Isomaltase Deficiency, Congenital:



Diseases related to Sucrase-Isomaltase Deficiency, Congenital
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Symptoms & Phenotypes for Sucrase-Isomaltase Deficiency, Congenital

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Symptoms via clinical synopsis from OMIM:

57
G I:
malabsorption
diarrhea
disaccharide intolerance

Lab:
sucrase-isomerase deficiency

G U:
renal calculi


Clinical features from OMIM:

222900

Human phenotypes related to Sucrase-Isomaltase Deficiency, Congenital:

59 32 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002013
2 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
3 abdominal distention 59 32 occasional (7.5%) Occasional (29-5%) HP:0003270
4 abdominal colic 59 32 occasional (7.5%) Occasional (29-5%) HP:0011848
5 malabsorption 32 HP:0002024
6 abnormality of metabolism/homeostasis 32 HP:0001939
7 nephrolithiasis 32 HP:0000787
Sources

Drugs & Therapeutics for Sucrase-Isomaltase Deficiency, Congenital

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Trial to Evaluate the Frequency of Genetic Sucrase-Isomaltase Deficiency Genotypes, and the Efficacy and Safety of Sucraid® (Sacrosidase) Oral Solution in Subjects With Chronic Diarrhea and Sucrase Deficiency Withdrawn NCT02784067 Phase 4 Sucraid;Placebo
2 Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS) Completed NCT01914003

Search NIH Clinical Center for Sucrase-Isomaltase Deficiency, Congenital

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Genetic Tests for Sucrase-Isomaltase Deficiency, Congenital

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Genetic tests related to Sucrase-Isomaltase Deficiency, Congenital:

# Genetic test Affiliating Genes
1 Sucrase-Isomaltase Deficiency 29 SI
Sources

Anatomical Context for Sucrase-Isomaltase Deficiency, Congenital

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MalaCards organs/tissues related to Sucrase-Isomaltase Deficiency, Congenital:

41
Small Intestine, Testes, Colon, B Cells
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Publications for Sucrase-Isomaltase Deficiency, Congenital

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Articles related to Sucrase-Isomaltase Deficiency, Congenital:

(show all 28)
# Title Authors Year
1
13C-Labeled-Starch Breath Test in Congenital Sucrase-isomaltase Deficiency. ( 29762381 )
2018
2
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization. ( 27749612 )
2017
3
Molecular pathogenicity of novel sucrase-isomaltase mutations found in congenital sucrase-isomaltase deficiency patients. ( 28062276 )
2017
4
Congenital sucrase-isomaltase deficiency: identification of a common Inuit founder mutation. ( 25452324 )
2015
5
Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy. ( 26163121 )
2015
6
Congenital sucrase-isomaltase deficiency: an under-diagnosed disease in Chinese children. ( 24433566 )
2014
7
Research progress reported at the 50th Anniversary of the Discovery of Congenital Sucrase-Isomaltase Deficiency Workshop. ( 23103641 )
2012
8
Clinical aspects and treatment of congenital sucrase-isomaltase deficiency. ( 23103658 )
2012
9
Congenital sucrase-isomaltase deficiency: summary of an evaluation in one family. ( 23103651 )
2012
10
Congenital sucrase-isomaltase deficiency: diet assessment and education guidelines. ( 23103652 )
2012
11
Congenital sucrase-isomaltase deficiency: heterogeneity of inheritance, trafficking, and function of an intestinal enzyme complex. ( 23103643 )
2012
12
50 years of progress since congenital sucrase-isomaltase deficiency recognition. ( 23103644 )
2012
13
Starch digestion and patients with congenital sucrase-isomaltase deficiency. ( 23103646 )
2012
14
Compound heterozygous mutations affect protein folding and function in patients with congenital sucrase-isomaltase deficiency. ( 19121318 )
2009
15
Altered folding, turnover, and polarized sorting act in concert to define a novel pathomechanism of congenital sucrase-isomaltase deficiency. ( 16543230 )
2006
16
Congenital sucrase-isomaltase deficiency because of an accumulation of the mutant enzyme in the endoplasmic reticulum. ( 14724820 )
2003
17
Congenital sucrase-isomaltase deficiency presenting with failure to thrive, hypercalcemia, and nephrocalcinosis. ( 12014995 )
2002
18
Congenital sucrase-isomaltase deficiency arising from cleavage and secretion of a mutant form of the enzyme. ( 10903344 )
2000
19
Index of suspicion. Case 3. Congenital sucrase-isomaltase deficiency. ( 10702073 )
2000
20
Sacrosidase therapy for congenital sucrase-isomaltase deficiency. ( 9932843 )
1999
21
Clinical heterogeneity in congenital sucrase-isomaltase deficiency. ( 8648527 )
1996
22
Congenital sucrase-isomaltase deficiency: identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment. ( 8609217 )
1996
23
Glucose polymer as a cause of protracted diarrhea in infants with unsuspected congenital sucrase-isomaltase deficiency. ( 8648532 )
1996
24
Congenital sucrase-isomaltase deficiency. ( 8576798 )
1995
25
Enzyme-substitution therapy with the yeast Saccharomyces cerevisiae in congenital sucrase-isomaltase deficiency. ( 3553946 )
1987
26
Transport to cell surface of intestinal sucrase-isomaltase is blocked in the Golgi apparatus in a patient with congenital sucrase-isomaltase deficiency. ( 3925457 )
1985
27
Subcellular fractionation studies of the intestinal mucosa in congenital sucrase--isomaltase deficiency. ( 383373 )
1979
28
Congenital sucrase-isomaltase deficiency. Observations over a period of 6 years. ( 5041318 )
1972
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Variations for Sucrase-Isomaltase Deficiency, Congenital

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UniProtKB/Swiss-Prot genetic disease variations for Sucrase-Isomaltase Deficiency, Congenital:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 SI p.Gln1098Pro VAR_007854 rs121912611
2 SI p.Gln117Arg VAR_025368 rs121912612
3 SI p.Leu341Pro VAR_025370 rs267607049
4 SI p.Val577Gly VAR_025371 rs121912615
5 SI p.Ser594Pro VAR_025372 rs765433197
6 SI p.Leu620Pro VAR_025373 rs121912613
7 SI p.Thr694Pro VAR_025374
8 SI p.Gly1073Asp VAR_025375 rs121912616
9 SI p.Cys1229Tyr VAR_025376 rs121912614
10 SI p.Arg1367Gly VAR_025377 rs143388292
11 SI p.Phe1745Cys VAR_025379 rs79717168

ClinVar genetic disease variations for Sucrase-Isomaltase Deficiency, Congenital:

6 (show top 50) (show all 186)
# Gene Variation Type Significance SNP ID Assembly Location
1 SI NM_001041.3(SI): c.3293A> C (p.Gln1098Pro) single nucleotide variant Pathogenic rs121912611 GRCh37 Chromosome 3, 164737520: 164737520
2 SI NM_001041.3(SI): c.3293A> C (p.Gln1098Pro) single nucleotide variant Pathogenic rs121912611 GRCh38 Chromosome 3, 165019732: 165019732
3 SI NM_001041.3(SI): c.1022T> C (p.Leu341Pro) single nucleotide variant Pathogenic rs267607049 GRCh37 Chromosome 3, 164777814: 164777814
4 SI NM_001041.3(SI): c.1022T> C (p.Leu341Pro) single nucleotide variant Pathogenic rs267607049 GRCh38 Chromosome 3, 165060026: 165060026
5 SI NM_001041.3(SI): c.350A> G (p.Gln117Arg) single nucleotide variant Pathogenic rs121912612 GRCh37 Chromosome 3, 164786889: 164786889
6 SI NM_001041.3(SI): c.350A> G (p.Gln117Arg) single nucleotide variant Pathogenic rs121912612 GRCh38 Chromosome 3, 165069101: 165069101
7 SI NM_001041.3(SI): c.1859T> C (p.Leu620Pro) single nucleotide variant Pathogenic rs121912613 GRCh37 Chromosome 3, 164764657: 164764657
8 SI NM_001041.3(SI): c.1859T> C (p.Leu620Pro) single nucleotide variant Pathogenic rs121912613 GRCh38 Chromosome 3, 165046869: 165046869
9 SI NM_001041.3(SI): c.3686G> A (p.Cys1229Tyr) single nucleotide variant Pathogenic rs121912614 GRCh37 Chromosome 3, 164735409: 164735409
10 SI NM_001041.3(SI): c.3686G> A (p.Cys1229Tyr) single nucleotide variant Pathogenic rs121912614 GRCh38 Chromosome 3, 165017621: 165017621
11 SI NM_001041.3(SI): c.5234T> G (p.Phe1745Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs79717168 GRCh37 Chromosome 3, 164700803: 164700803
12 SI NM_001041.3(SI): c.5234T> G (p.Phe1745Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs79717168 GRCh38 Chromosome 3, 164983015: 164983015
13 SI NM_001041.3(SI): c.1730T> G (p.Val577Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs121912615 GRCh37 Chromosome 3, 164764786: 164764786
14 SI NM_001041.3(SI): c.1730T> G (p.Val577Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs121912615 GRCh38 Chromosome 3, 165046998: 165046998
15 SI NM_001041.3(SI): c.3218G> A (p.Gly1073Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121912616 GRCh37 Chromosome 3, 164739053: 164739053
16 SI NM_001041.3(SI): c.3218G> A (p.Gly1073Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121912616 GRCh38 Chromosome 3, 165021265: 165021265
17 SI NM_001041.3(SI): c.*314delT deletion Likely benign rs145227457 GRCh38 Chromosome 3, 164979048: 164979048
18 SI NM_001041.3(SI): c.*314delT deletion Likely benign rs145227457 GRCh37 Chromosome 3, 164696836: 164696836
19 SI NM_001041.3(SI): c.*68T> C single nucleotide variant Likely benign rs73018867 GRCh38 Chromosome 3, 164979294: 164979294
20 SI NM_001041.3(SI): c.*68T> C single nucleotide variant Likely benign rs73018867 GRCh37 Chromosome 3, 164697082: 164697082
21 SI NM_001041.3(SI): c.5367T> C (p.Tyr1789=) single nucleotide variant Uncertain significance rs144206255 GRCh38 Chromosome 3, 164982291: 164982291
22 SI NM_001041.3(SI): c.5367T> C (p.Tyr1789=) single nucleotide variant Uncertain significance rs144206255 GRCh37 Chromosome 3, 164700079: 164700079
23 SI NM_001041.3(SI): c.5197+8C> T single nucleotide variant Likely benign rs6799858 GRCh38 Chromosome 3, 164987130: 164987130
24 SI NM_001041.3(SI): c.5197+8C> T single nucleotide variant Likely benign rs6799858 GRCh37 Chromosome 3, 164704918: 164704918
25 SI NM_001041.3(SI): c.4951G> A (p.Val1651Ile) single nucleotide variant Uncertain significance rs139876383 GRCh38 Chromosome 3, 164992209: 164992209
26 SI NM_001041.3(SI): c.4951G> A (p.Val1651Ile) single nucleotide variant Uncertain significance rs139876383 GRCh37 Chromosome 3, 164709997: 164709997
27 SI NM_001041.3(SI): c.4692+12C> T single nucleotide variant Uncertain significance rs199581970 GRCh38 Chromosome 3, 164996523: 164996523
28 SI NM_001041.3(SI): c.4692+12C> T single nucleotide variant Uncertain significance rs199581970 GRCh37 Chromosome 3, 164714311: 164714311
29 SI NM_001041.3(SI): c.4458G> A (p.Thr1486=) single nucleotide variant Uncertain significance rs140287192 GRCh38 Chromosome 3, 164998622: 164998622
30 SI NM_001041.3(SI): c.4458G> A (p.Thr1486=) single nucleotide variant Uncertain significance rs140287192 GRCh37 Chromosome 3, 164716410: 164716410
31 SI NM_001041.3(SI): c.4191G> A (p.Glu1397=) single nucleotide variant Uncertain significance rs886058141 GRCh38 Chromosome 3, 165007987: 165007987
32 SI NM_001041.3(SI): c.4191G> A (p.Glu1397=) single nucleotide variant Uncertain significance rs886058141 GRCh37 Chromosome 3, 164725775: 164725775
33 SI NM_001041.3(SI): c.4099A> G (p.Arg1367Gly) single nucleotide variant Uncertain significance rs143388292 GRCh38 Chromosome 3, 165009359: 165009359
34 SI NM_001041.3(SI): c.4099A> G (p.Arg1367Gly) single nucleotide variant Uncertain significance rs143388292 GRCh37 Chromosome 3, 164727147: 164727147
35 SI NM_001041.3(SI): c.4077T> C (p.His1359=) single nucleotide variant Uncertain significance rs886058142 GRCh38 Chromosome 3, 165009381: 165009381
36 SI NM_001041.3(SI): c.4077T> C (p.His1359=) single nucleotide variant Uncertain significance rs886058142 GRCh37 Chromosome 3, 164727169: 164727169
37 SI NM_001041.3(SI): c.4026A> G (p.Thr1342=) single nucleotide variant Likely benign rs74648160 GRCh37 Chromosome 3, 164730804: 164730804
38 SI NM_001041.3(SI): c.4026A> G (p.Thr1342=) single nucleotide variant Likely benign rs74648160 GRCh38 Chromosome 3, 165013016: 165013016
39 SI NM_001041.3(SI): c.3836C> T (p.Pro1279Leu) single nucleotide variant Uncertain significance rs886058143 GRCh37 Chromosome 3, 164733792: 164733792
40 SI NM_001041.3(SI): c.3836C> T (p.Pro1279Leu) single nucleotide variant Uncertain significance rs886058143 GRCh38 Chromosome 3, 165016004: 165016004
41 SI NM_001041.3(SI): c.3790G> A (p.Glu1264Lys) single nucleotide variant Uncertain significance rs886058144 GRCh37 Chromosome 3, 164733838: 164733838
42 SI NM_001041.3(SI): c.3790G> A (p.Glu1264Lys) single nucleotide variant Uncertain significance rs886058144 GRCh38 Chromosome 3, 165016050: 165016050
43 SI NM_001041.3(SI): c.3408A> C (p.Arg1136Ser) single nucleotide variant Uncertain significance rs138927818 GRCh38 Chromosome 3, 165019617: 165019617
44 SI NM_001041.3(SI): c.3408A> C (p.Arg1136Ser) single nucleotide variant Uncertain significance rs138927818 GRCh37 Chromosome 3, 164737405: 164737405
45 SI NM_001041.3(SI): c.3242G> A (p.Ser1081Asn) single nucleotide variant Uncertain significance rs376341511 GRCh38 Chromosome 3, 165021241: 165021241
46 SI NM_001041.3(SI): c.3242G> A (p.Ser1081Asn) single nucleotide variant Uncertain significance rs376341511 GRCh37 Chromosome 3, 164739029: 164739029
47 SI NM_001041.3(SI): c.2737-8delC deletion Uncertain significance rs886058145 GRCh38 Chromosome 3, 165030875: 165030875
48 SI NM_001041.3(SI): c.2737-8delC deletion Uncertain significance rs886058145 GRCh37 Chromosome 3, 164748663: 164748663
49 SI NM_001041.3(SI): c.2395A> G (p.Ile799Val) single nucleotide variant Uncertain significance rs150246328 GRCh38 Chromosome 3, 165037931: 165037931
50 SI NM_001041.3(SI): c.2395A> G (p.Ile799Val) single nucleotide variant Uncertain significance rs150246328 GRCh37 Chromosome 3, 164755719: 164755719
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Expression for Sucrase-Isomaltase Deficiency, Congenital

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Search GEO for disease gene expression data for Sucrase-Isomaltase Deficiency, Congenital.
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Pathways for Sucrase-Isomaltase Deficiency, Congenital

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Pathways related to Sucrase-Isomaltase Deficiency, Congenital according to KEGG:

37
# Name Kegg Source Accession
1 Starch and sucrose metabolism hsa00500
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GO Terms for Sucrase-Isomaltase Deficiency, Congenital

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Sources for Sucrase-Isomaltase Deficiency, Congenital

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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