MCID: CHY002
MIFTS: 54

Chylomicron Retention Disease

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Metabolic diseases, Endocrine diseases

Aliases & Classifications for Chylomicron Retention Disease

MalaCards integrated aliases for Chylomicron Retention Disease:

Name: Chylomicron Retention Disease 53 12 49 24 55 71 36 28 13 51 41 14 69
Cmrd 53 12 49 24 55 71
Anderson Disease 53 12 24 55 71
Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein in Intestinal Cells 53 49 24 71
Lipid Transport Defect of Intestine 53 49 24 71
Andd 53 71
Malabsorption Syndromes 41
Anderson Disease; Andd 53
Malabsorption Syndrome 69
Anderson Syndrome 24
Andersons Disease 51
Malabsorption 28
Crd 55

Characteristics:

Orphanet epidemiological data:

55
chylomicron retention disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy


HPO:

31
chylomicron retention disease:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Chylomicron Retention Disease

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 71Disease definitionChylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.EpidemiologyAbout 55 cases have been described to date.Clinical descriptionChylomicron retention disease manifests in infancy or early childhood. Features include an abnormal lipid profile, failure to thrive, chronic malabsorptive diarrhea, vomiting and abdominal distension in early infancy (1-6 months), and vitamin E deficiency. Cardiomyopathy and muscular manifestations have also been described. Essential fatty acid (EFA) deficiency is especially severe early in life. Poor mineralization and delayed bone maturation can occur. Hepatic steatosis is common and hepatomegaly is reported to occur in about 20% of CRD patients. Neurologic complications (areflexia, ataxia, myopathy, sensory neuropathy) and ophthalmologic complications (minor visual abnormalities) are less severe in CRD than in other types of familial hypocholesterolemia.EtiologyThe SAR1B gene has been identified as the cause of CRD. More than 14 different mutations in about 30 patients have been described. This gene encodes the Sar1b protein, which is involved in the transport of chylomicrons (carriers of dietary lipids) from the endoplasmic reticulum to the Golgi apparatus. This mutation results in accumulation of pre-chylomicron transport vesicles in the cytoplasm of enterocytes. Genotyping has revealed that Anderson's disease and CRD are in fact the same condition.Diagnostic methodsDiagnosis is often delayed because symptoms are nonspecific and hypocholesterolemia may be attributed to malnutrition secondary to chronic diarrhea. Diagnosis is based on a history of chronic diarrhea with fat malabsorption and a characteristic abnormal lipid profile: generally a 50% decrease in total cholesterol, LDL-cholesterol (LDL-C) and high-density lipoprotein-cholesterol (HDL-C) in the presence of normal triglycerides. Upper endoscopy and histology reveal fat-laden enterocytes. Elevated creatine kinase (CK) in patients with hypocholesterolemia may be suggestive of CRD. Genotyping makes it possible to identify the SAR1B gene mutations. Parental lipid screening may clarify the diagnosis. An absence of hypocholesterolemia in both parents favors CRD. Consanguinity is frequent in patients with the disorder.Differential diagnosisDifferential diagnosis includes abetalipoproteinemia and other genetic hypocholesterolemias characterized by decreased LDL-C, such as homozygous hypobetalipoproteinemia (HBL; see these terms), and acquired disorders associated with low HDL-C.Genetic counselingThe disease follows an autosomal recessive pattern of inheritance.Management and treatmentFollow-up should be directed toward monitoring nutrition and growth, and treatment compliance. Management should focus on prevention and early detection of complications (hepatic, neuromuscular, retinal and bone). Control of vitamin E deficiency plays a key role in preventing neurological complications. Treatment includes fat-soluble vitamin supplements and large amounts of vitamin E. Vitamin A, in combination with vitamin E, may help to prevent ophthalmologic complications. Early vitamin D treatment makes it possible to prevent osteopenia. Vomiting, diarrhea and abdominal distension improve on a low-long chain fat diet. Dietary counseling is needed not only to monitor fat intake and improve symptoms, but also to maintain sufficient caloric and EFA intake.PrognosisVery long-term follow-up into adulthood is poorly documented.Visit the Orphanet disease page for more resources. Last updated: 3/15/2011

MalaCards based summary : Chylomicron Retention Disease, also known as cmrd, is related to hypolipoproteinemia and steatorrhea, and has symptoms including vomiting, diarrhea and failure to thrive. An important gene associated with Chylomicron Retention Disease is SAR1B (Secretion Associated Ras Related GTPase 1B), and among its related pathways/superpathways are Protein processing in endoplasmic reticulum and Metabolism. Affiliated tissues include bone and eye, and related phenotypes are homeostasis/metabolism and liver/biliary system

Disease Ontology : 12 A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has material basis in mutations in the SAR1B gene on chromosome 5q31.1.

Genetics Home Reference : 24 Chylomicron retention disease is an inherited disorder that affects the absorption of dietary fats, cholesterol, and certain fat-soluble vitamins. As food is digested after a meal, molecules called chylomicrons are formed to carry fat and cholesterol from the intestine into the bloodstream. Chylomicrons are also necessary for the absorption of certain fat-soluble vitamins, such as vitamin E and vitamin D. A lack of chylomicron transport causes severely decreased absorption (malabsorption) of dietary fats and fat-soluble vitamins. Sufficient levels of fats, cholesterol, and vitamins are necessary for normal growth and development.

OMIM : 53 Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy (Dannoura et al., 1999). (246700)

UniProtKB/Swiss-Prot : 71 Chylomicron retention disease: An autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. The condition is characterized by deficiency of fat-soluble vitamins, low blood cholesterol levels, and a selective absence of chylomicrons from blood. Affected individuals accumulate chylomicron-like particles in membrane-bound compartments of enterocytes, which contain large cytosolic lipid droplets.

Wikipedia : 72 Chylomicron retention disease is a disorder of fat absorption. It is associated with SAR1B. Mutations in... more...

Related Diseases for Chylomicron Retention Disease

Diseases related to Chylomicron Retention Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 hypolipoproteinemia 31.2 APOA1 APOB MTTP SAR1B
2 steatorrhea 29.4 MTTP SLC10A2
3 abetalipoproteinemia 29.4 APOA1 APOB MTTP SAR1B
4 glucose/galactose malabsorption 12.5
5 folate malabsorption, hereditary 12.4
6 bile acid malabsorption, primary 12.3
7 diarrhea 4, malabsorptive, congenital 12.2
8 idiopathic malabsorption due to bile acid synthesis defects 12.1
9 methionine malabsorption syndrome 12.0
10 lysine malabsorption syndrome 12.0
11 cone-rod dystrophy 2 12.0
12 partington-anderson syndrome 12.0
13 cortisone reductase deficiency 1 11.7
14 cortisone reductase deficiency 2 11.1
15 hypobetalipoproteinemia, familial, 2 11.1
16 spondylometaphyseal dysplasia with cone-rod dystrophy 11.0
17 neuroectodermal endocrine syndrome 10.9
18 goiter, multinodular, cystic renal disease, and digital anomalies 10.9
19 refsum disease, classic 10.9
20 daneman davy mancer syndrome 10.9
21 tropical sprue 10.8
22 popliteal pterygium syndrome, lethal type 10.4
23 leukodystrophy, hypomyelinating, 3 10.2 APOA1 APOB
24 dysbaric osteonecrosis 10.2 APOA1 APOB
25 ischemic heart disease 10.2 APOA1 APOB
26 vitamin e, familial isolated deficiency of 10.2 APOA1 APOB
27 fetal macrosomia 10.2 APOA1 APOB
28 hypertriglyceridemia, familial 10.2 APOA1 APOB
29 hypoalphalipoproteinemia, primary 10.2 APOA1 APOB
30 arcus corneae 10.2 APOA1 APOB
31 sitosterolemia 10.2 APOB MTTP
32 hyperlipoproteinemia, type iii 10.2 APOA1 APOB
33 hyperlipidemia, familial combined 10.2 APOA1 APOB
34 hyperalphalipoproteinemia 1 10.2 APOA1 APOB
35 coronary stenosis 10.1 APOA1 APOB
36 carotid artery disease 10.1 APOA1 APOB
37 lecithin:cholesterol acyltransferase deficiency 10.1 APOA1 APOB
38 gallbladder disease 10.1 APOA1 APOB
39 tangier disease 10.1 APOA1 APOB
40 diarrhea 10.0
41 familial hyperlipidemia 10.0 APOA1 APOB
42 vaginal cancer 10.0 SAR1B SLC10A2
43 microphthalmia 10.0
44 melanoma 10.0
45 inherited metabolic disorder 10.0 APOA1 APOB
46 hypobetalipoproteinemia, familial, 1 10.0 APOA1 APOB MTTP
47 coronary heart disease 1 9.9 APOA1 APOB MTTP
48 lipid metabolism disorder 9.9 APOA1 APOB MTTP
49 hypercholesterolemia, familial 9.9 APOA1 APOB MTTP
50 peripheral vascular disease 9.9 APOA1 APOB

Comorbidity relations with Chylomicron Retention Disease via Phenotypic Disease Network (PDN): (show all 12)


Active Peptic Ulcer Disease Acute Cystitis
Celiac Disease 1 Deficiency Anemia
Esophagitis Heart Disease
Intestinal Obstruction Iron Deficiency Anemia
Osteoporosis Pancreatitis, Hereditary
Paralytic Ileus Protein-Energy Malnutrition

Graphical network of the top 20 diseases related to Chylomicron Retention Disease:



Diseases related to Chylomicron Retention Disease

Symptoms & Phenotypes for Chylomicron Retention Disease

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
vomiting
severe diarrhea
steatorrhea
fat malabsorption
malnutrition
more
Neurologic Peripheral Nervous System:
peripheral neuropathy
neurologic deficits may occur secondarily to malabsorption
diminished or absent deep tendon reflexes
diminished vibratory sense

Growth Other:
failure to thrive
growth retardation

Laboratory Abnormalities:
hypocholesterolemia
hypobetalipoproteinemia
deficiency of fat-soluble vitamins
normal serum triglycerides
absence of chylomicrons in lymph and plasma
more

Clinical features from OMIM:

246700

Human phenotypes related to Chylomicron Retention Disease:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002013
2 diarrhea 55 31 obligate (100%) Obligate (100%) HP:0002014
3 failure to thrive 55 31 frequent (33%) Frequent (79-30%) HP:0001508
4 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
5 retinopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0000488
6 growth delay 55 31 frequent (33%) Frequent (79-30%) HP:0001510
7 hepatic steatosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001397
8 elevated hepatic transaminases 55 31 hallmark (90%) Very frequent (99-80%) HP:0002910
9 impaired proprioception 55 31 very rare (1%) Very rare (<4-1%) HP:0010831
10 areflexia 55 31 very rare (1%) Very rare (<4-1%) HP:0001284
11 abdominal distention 55 31 frequent (33%) Frequent (79-30%) HP:0003270
12 steatorrhea 55 31 hallmark (90%) Very frequent (99-80%) HP:0002570
13 hypocholesterolemia 55 31 obligate (100%) Obligate (100%) HP:0003146
14 increased hepatocellular lipid droplets 55 31 frequent (33%) Frequent (79-30%) HP:0006565
15 abnormality of vitamin metabolism 55 31 frequent (33%) Frequent (79-30%) HP:0100508
16 acanthocytosis 55 31 very rare (1%) Very rare (<4-1%) HP:0001927
17 intellectual disability 31 HP:0001249
18 myopathy 55 Very rare (<4-1%)
19 abnormality of the eye 31 HP:0000478
20 hypertriglyceridemia 55 Excluded (0%)
21 reduced tendon reflexes 31 HP:0001315
22 abnormality of blood and blood-forming tissues 31 HP:0001871
23 hypoalbuminemia 31 HP:0003073
24 fat malabsorption 55 Very frequent (99-80%)
25 emg: myopathic abnormalities 55 Occasional (29-5%)
26 malnutrition 31 HP:0004395
27 impaired vibratory sensation 31 HP:0002495
28 decreased circulating low-density lipoprotein levels 31 HP:0003563
29 emg 31 occasional (7.5%) HP:0003458

UMLS symptoms related to Chylomicron Retention Disease:


severe diarrhea, vomiting, gastrointestinal gas, nausea and vomiting, icterus, heartburn, dyspepsia, diarrhea, constipation, abdominal pain

MGI Mouse Phenotypes related to Chylomicron Retention Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.56 APOA1 APOB CUBN FABP1 MTTP SAR1B
2 liver/biliary system MP:0005370 9.02 SLC10A2 APOA1 APOB FABP1 MTTP

Drugs & Therapeutics for Chylomicron Retention Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Belgian Screening Project for the Detection of Anderson-Fabry Disease in Hypertrophic Cardiomyopathy Completed NCT01198899

Search NIH Clinical Center for Chylomicron Retention Disease

Cochrane evidence based reviews: malabsorption syndromes

Genetic Tests for Chylomicron Retention Disease

Genetic tests related to Chylomicron Retention Disease:

# Genetic test Affiliating Genes
1 Chylomicron Retention Disease 28 SAR1B
2 Malabsorption 28

Anatomical Context for Chylomicron Retention Disease

MalaCards organs/tissues related to Chylomicron Retention Disease:

38
Bone, Eye

Publications for Chylomicron Retention Disease

Articles related to Chylomicron Retention Disease:

(show all 26)
# Title Authors Year
1
Understanding Chylomicron Retention Disease Through Sar1b Gtpase Gene Disruption: Insight From Cell Culture. ( 28982670 )
2017
2
Chylomicron retention disease: A rare cause of chronic diarrhea. ( 27266643 )
2016
3
Establishment of reference values of I+-tocopherol in plasma, red blood cells and adipose tissue in healthy children to improve the management of chylomicron retention disease, a rare genetic hypocholesterolemia. ( 27520363 )
2016
4
Studying lipoprotein trafficking in zebrafish, the case of chylomicron retention disease. ( 25572701 )
2015
5
An infant with vomiting, diarrhea, and failure to thrive. Chylomicron retention disease. ( 24560855 )
2014
6
Chylomicron retention disease. ( 22959141 )
2013
7
Novel mutations in SAR1B and MTTP genes in Tunisian children with chylomicron retention disease and abetalipoproteinemia. ( 23043934 )
2013
8
Low rate of production of apolipoproteins B100 and AI in 2 patients with Anderson disease (chylomicron retention disease). ( 22441101 )
2012
9
Chylomicron retention disease: report of two cases from a Greek Island. ( 23329770 )
2012
10
Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease). ( 21235735 )
2011
11
Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence. ( 22104167 )
2011
12
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers. ( 20920215 )
2010
13
Chylomicron retention disease: dystonia as a new clinical feature. ( 20589877 )
2010
14
Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. ( 19846172 )
2010
15
Novel missense mutations of SAR1B gene in an infant with chylomicron retention disease. ( 19274794 )
2009
16
Chylomicron retention disease: a long term study of two cohorts. ( 19285442 )
2009
17
Anderson's disease (chylomicron retention disease): a new mutation in the SARA2 gene associated with muscular and cardiac abnormalities. ( 18786134 )
2008
18
Anderson or chylomicron retention disease: molecular impact of five mutations in the SAR1B gene on the structure and the functionality of Sar1b protein. ( 17945526 )
2008
19
SIL1 and SARA2 mutations in Marinesco-Sjogren and chylomicron retention diseases. ( 17309654 )
2007
20
Chylomicron retention disease--the role of ultrastructural examination in differential diagnosis. ( 11770019 )
2001
21
Vitamin E deficiency due to chylomicron retention disease in Marinesco-SjAPgren syndrome. ( 10665502 )
2000
22
Chylomicron retention disease: exclusion of apolipoprotein B gene defects and detection of mRNA editing in an affected family. ( 7980720 )
1994
23
Chylomicron retention disease. ( 3335330 )
1988
24
Malabsorption, hypocholesterolemia, and fat-filled enterocytes with increased intestinal apoprotein B. Chylomicron retention disease. ( 3792776 )
1987
25
Intestinal apoB synthesis, lipids, and lipoproteins in chylomicron retention disease. ( 3430059 )
1987
26
Action tremor as a manifestation of chylomicron retention disease. ( 6651243 )
1983

Variations for Chylomicron Retention Disease

UniProtKB/Swiss-Prot genetic disease variations for Chylomicron Retention Disease:

71
# Symbol AA change Variation ID SNP ID
1 SAR1B p.Gly37Arg VAR_016806 rs121917846
2 SAR1B p.Asp137Asn VAR_016807 rs28942109
3 SAR1B p.Ser179Arg VAR_016808 rs28942110
4 SAR1B p.Gly11Asp VAR_059051
5 SAR1B p.Asp75Gly VAR_059052

ClinVar genetic disease variations for Chylomicron Retention Disease:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SAR1B NM_001033503.2(SAR1B): c.109G> A (p.Gly37Arg) single nucleotide variant Pathogenic rs121917846 GRCh37 Chromosome 5, 133956692: 133956692
2 SAR1B NM_001033503.2(SAR1B): c.409G> A (p.Asp137Asn) single nucleotide variant Pathogenic rs28942109 GRCh37 Chromosome 5, 133944133: 133944133
3 SAR1B SAR1B, 2-BP DEL, 75TG deletion Pathogenic
4 SAR1B NM_001033503.2(SAR1B): c.537T> A (p.Ser179Arg) single nucleotide variant Pathogenic rs28942110 GRCh37 Chromosome 5, 133942700: 133942700
5 SAR1B SAR1B, 4-BP DUP, 555TTAC duplication Pathogenic
6 SAR1B SAR1B, 349, G-C, -1 single nucleotide variant Pathogenic
7 SAR1B NM_001033503.2(SAR1B): c.364G> T (p.Glu122Ter) single nucleotide variant Pathogenic rs137853125 GRCh37 Chromosome 5, 133944178: 133944178
8 SAR1B NM_001033503.2(SAR1B): c.554G> T (p.Gly185Val) single nucleotide variant Pathogenic rs137853126 GRCh37 Chromosome 5, 133942683: 133942683

Expression for Chylomicron Retention Disease

Search GEO for disease gene expression data for Chylomicron Retention Disease.

Pathways for Chylomicron Retention Disease

Pathways related to Chylomicron Retention Disease according to KEGG:

36
# Name Kegg Source Accession
1 Protein processing in endoplasmic reticulum hsa04141

Pathways related to Chylomicron Retention Disease according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 APOA1 APOB CUBN FABP1 MTTP SAR1B
2
Show member pathways
12.28 APOA1 APOB CUBN
3
Show member pathways
11.94 APOA1 APOB CUBN
4
Show member pathways
11.91 APOA1 APOB CUBN
5
Show member pathways
11.64 APOA1 APOB CUBN FABP1 MTTP SAR1B
6
Show member pathways
11.57 APOA1 APOB MTTP
7 11.33 APOA1 FABP1
8 11.31 SLC10A2 SLC5A1
9
Show member pathways
10.9 APOA1 APOB FABP1 MTTP
10 10.78 APOA1 FABP1
11 10.71 APOA1 APOB CUBN

GO Terms for Chylomicron Retention Disease

Cellular components related to Chylomicron Retention Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.54 APOA1 APOB MTTP
2 endocytic vesicle GO:0030139 9.43 APOA1 CUBN
3 brush border membrane GO:0031526 9.4 CUBN MTTP
4 very-low-density lipoprotein particle GO:0034361 9.32 APOA1 APOB
5 endocytic vesicle lumen GO:0071682 9.26 APOA1 APOB
6 low-density lipoprotein particle GO:0034362 9.16 APOA1 APOB
7 chylomicron GO:0042627 8.96 APOA1 APOB
8 intermediate-density lipoprotein particle GO:0034363 8.62 APOA1 APOB

Biological processes related to Chylomicron Retention Disease according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.85 APOA1 APOB CUBN MTTP
2 receptor-mediated endocytosis GO:0006898 9.75 APOA1 APOB CUBN
3 lipid transport GO:0006869 9.71 APOA1 APOB MTTP
4 steroid metabolic process GO:0008202 9.7 APOA1 APOB CUBN
5 cholesterol metabolic process GO:0008203 9.63 APOA1 APOB CUBN
6 retinoid metabolic process GO:0001523 9.59 APOA1 APOB
7 phospholipid transport GO:0015914 9.58 APOA1 MTTP
8 cholesterol homeostasis GO:0042632 9.58 APOA1 APOB MTTP
9 cholesterol transport GO:0030301 9.57 APOA1 APOB
10 cholesterol efflux GO:0033344 9.56 APOA1 APOB
11 very-low-density lipoprotein particle assembly GO:0034379 9.51 APOB MTTP
12 triglyceride catabolic process GO:0019433 9.5 APOA1 APOB FABP1
13 chylomicron remodeling GO:0034371 9.49 APOA1 APOB
14 high-density lipoprotein particle clearance GO:0034384 9.48 APOA1 CUBN
15 lipoprotein biosynthetic process GO:0042158 9.43 APOA1 APOB
16 lipoprotein metabolic process GO:0042157 9.43 APOA1 APOB MTTP
17 positive regulation of hydrolase activity GO:0051345 9.37 APOA1 FABP1
18 lipoprotein transport GO:0042953 9.33 APOB CUBN MTTP
19 transport GO:0006810 9.23 APOA1 APOB CUBN FABP1 MTTP SAR1B
20 chylomicron assembly GO:0034378 9.13 APOA1 APOB MTTP

Molecular functions related to Chylomicron Retention Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 drug binding GO:0008144 9.37 CUBN FABP1
2 phospholipid binding GO:0005543 9.33 APOA1 APOB FABP1
3 cholesterol transporter activity GO:0017127 9.32 APOA1 APOB
4 phospholipid transporter activity GO:0005548 9.26 APOA1 MTTP
5 lipid binding GO:0008289 9.26 APOA1 APOB FABP1 MTTP
6 lipid transporter activity GO:0005319 8.8 APOA1 APOB MTTP

Sources for Chylomicron Retention Disease

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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