HC
MCID: HMC003
MIFTS: 78

Hemochromatosis (HC) malady

Genetic diseases, Rare diseases, Liver diseases, Nephrological diseases, Blood diseases categories

Summaries for Hemochromatosis

About this section
Sources:
22Genetics Home Reference, 44NIH Rare Diseases, 35MedlinePlus, 4CDC, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MedlinePlus:35 Hemochromatosis is a disease in which too much iron builds up in your body. your body needs iron but too much of it is toxic. if you have hemochromatosis, you absorb more iron than you need. your body has no natural way to get rid of the extra iron. it stores it in body tissues, especially the liver, heart, and pancreas. the extra iron can damage your organs. without treatment, it can cause your organs to fail. there are two types of hemochromatosis. primary hemochromatosis is an inherited disease. secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions. many symptoms of hemochromatosis are similar to those of other diseases. not everyone has symptoms. if you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain. your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. treatments include removing blood (and iron) from your body, medicines, and changes in your diet. nih: national heart, lung, and blood institute

MalaCards: Hemochromatosis, also known as hereditary hemochromatosis, is related to hepatitis and porphyria. An important gene associated with Hemochromatosis is HFE (hemochromatosis), and among its related pathways are Metal ion SLC transporters and Mineral absorption. The drug deferoxamine mesylate and the compounds aluminium citrate and gallium have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and testes, and related mouse phenotypes are liver/biliary system and mortality/aging.

Genetics Home Reference:22 Hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this reason, hemochromatosis is also called an iron overload disorder.

NIH Rare Diseases:44 Hemochromatosis is a disease in which too much iron builds up in the body.  this extra iron is toxic to the body and can damage the organs. early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.hemochromatosis may be acquired or hereditary. hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. to learn more about the specific types of hereditary hemochromatosis click on the disease names below: hemochromotosis type 1hemochromatosis type 2hemochromatosis type 3hemochromatosis type 4there is also a neonatal form of hemochromatosis:neonatal hemochromatosis last updated: 5/21/2012

CDC:4 Online Training - Online training course for clinicians and health professionals.

Wikipedia:66 In medicine, iron overload indicates accumulation of iron in the body from any cause. The most important... more...

Description from OMIM:48 606069,613313,602390,604250,235200

Aliases & Classifications for Hemochromatosis

About this section
Sources:
9Disease Ontology, 10diseasecard, 66Wikipedia, 44NIH Rare Diseases, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 46Novoseek, 35MedlinePlus, 63UMLS, 59SNOMED-CT, 36MeSH, 41NCIt
See all sources

Classifications:



Aliases & Descriptions:

hemochromatosis 9 10 66 44 22 48 11 46 35 63
hereditary hemochromatosis 66 23 46 63
iron storage disorder 9 66 22
haemochromatosis 9 66 22
bronze diabetes 9 66 22
von recklenhausen-applebaum disease 66 22
troisier-hanot-chauffard syndrome 66 22
familial hemochromatosis 66 22
genetic hemochromatosis 66 22
primary hemochromatosis 66 22
bronzed cirrhosis 66 22
hemochromatoses 66 22
hlah 66 22
hfe-associated hemochromatosis 66
pigmentary cirrhosis 22
bronzed diabetes 9
diabetes bronze 9
hh 22
hc 22


External Ids:

Disease Ontology9 DOID:2352
MeSH36 D006432
NCIt41 C84481

Related Diseases for Hemochromatosis

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Diseases in the Hemochromatosis family:

Hemochromatosis Type 2 Hemochromatosis, Type 3
Juvenile Hereditary Hemochromatosis Tfr2-Related Hereditary Hemochromatosis
Hemochromatosis Type 1 Hemochromatosis Type 4
Slc40a1-Related Hereditary Hemochromatosis Hamp-Related Juvenile Hemochromatosis
Hemochromatosis, Type 2a Hemochromatosis, Type 5
Hemochromatosis, Type 2b

Diseases related to Hemochromatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 269)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis31.1HFE, TFR2, TF
2porphyria31.0HFE, TF
3porphyria cutanea tarda30.9HFE, TFRC, TF
4hemochromatosis, type 330.9TFR2, HFE
5hemosiderosis30.9TF, HFE
6hemochromatosis type 430.8TFR2, SLC40A1
7hemochromatosis type 230.8HAMP, HFE2
8hfe-associated hereditary hemochromatosis30.8HFE
9hepatitis c30.7HAMP, TF, TFR2, HFE
10siderosis30.7TF, TFRC, HFE, SLC40A1
11hepatocellular carcinoma30.5SLC11A2, HFE, TF
12beta thalassemia30.5TF, TFRC, HFE
13arthropathy30.5TF, BMP2, HFE
14hereditary spherocytosis30.5HFE, TFRC
15hypogonadism30.4HFE, TF
16myelodysplastic syndromes30.3TF, TFRC, HFE
17bantu siderosis30.2TF, HFE
18hyperferritinemia cataract syndrome30.1TF, HFE
19iron metabolism disease30.1TF, HFE2, HFE
20wilson disease30.1HFE, TF
21hemolytic anemia30.0TF, TFRC, HFE
22galactosemia29.9TF, HFE, SLC40A1
23deficiency anemia29.9HAMP, TF, TFRC, TFR2, HFE2, HFE
24iron deficiency anemia29.9TF, SLC11A2, SLC40A1, HFE, TFRC
25aceruloplasminemia29.9HFE2, TFR2, HAMP
26alcoholic liver cirrhosis29.8TF, HFE
27liver cirrhosis29.8HFE, TFR2, TF
28alpha thalassemia29.8HAMP, TF, TFRC, HFE, SLC11A2
29diabetic nephropathy29.6TF, TFRC, BMP2, HFE, SLC11A2
30neonatal hemochromatosis10.9
31liver disease10.5
32thalassemia10.5
33hemochromatosis type 110.4
34diabetes mellitus10.4
35hemochromatosis, type 2a10.3
36tfr2-related hereditary hemochromatosis10.3
37haemochromatosis type 410.3
38duodenitis10.3
39arthritis10.3
40hypogonadotropic hypogonadism 2 with or without anosmia10.2
41hypotrichosis 110.2
42juvenile hereditary hemochromatosis10.2
43hepatitis c virus10.2
44refractory anemia10.2
45tetanus10.2
46leukemia10.2
47sideroblastic anemia10.2
48congenital dyserythropoietic anemia10.1
49celiac disease10.1
50alzheimer's disease10.1

Graphical network of the top 20 diseases related to Hemochromatosis:



Diseases related to hemochromatosis

Symptoms for Hemochromatosis

About this section
Sources:
48OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

235200

Clinical features from OMIM:

606069,613313,602390,604250,235200

Drugs & Therapeutics for Hemochromatosis

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hemochromatosis

Drug clinical trials:

Search ClinicalTrials for Hemochromatosis

Search NIH Clinical Center for Hemochromatosis

Search CenterWatch for Hemochromatosis

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Hemochromatosis

About this section
Sources:
23GTR
See all sources

Genetic tests related to Hemochromatosis:

id Genetic test Affiliating Genes
1 Hereditary Hemochromatosis23

Anatomical Context for Hemochromatosis

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Hemochromatosis:

34
Liver, Heart, Testes, Skin, Pancreas, Lung, Bone, Breast, Fetal liver, Bone marrow, Monocytes, Salivary gland, Kidney, Ovary, Thyroid, Prostate, Pituitary, Brain, Endothelial, T cells, Placenta, Tongue, Colon

Animal Models for Hemochromatosis or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Hemochromatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9TFRC, TFR2, HFE2, HFE, SLC40A1, SLC11A2
2MP:00107688.3TF, TFRC, BMP2, HFE2, HFE, SLC40A1
3MP:00053878.1HAMP, MR1, TFRC, TFR2, HFE2, HFE
4MP:00053978.0SLC11A2, HAMP, MR1, TF, TFRC, TFR2
5MP:00053768.0HAMP, TF, TFRC, TFR2, BMP2, HFE2
6MP:00053788.0HAMP, TF, TFRC, TFR2, BMP2, HFE

Publications for Hemochromatosis

About this section
Sources:
53PubMed
See all sources

Articles related to Hemochromatosis:

(show top 50)    (show all 1144)
idTitleAuthorsYear
1
Increased height in HFE hemochromatosis. (23964954)
2013
2
Intrahepatic cholangiocarcinoma: impact of genetic hemochromatosis on outcome and overall survival after surgical resection. (23183056)
2013
3
Paraoxonase-1 status in patients with hereditary hemochromatosis. (23471031)
2013
4
Inhibition of I^2-microglobulin/hemochromatosis enhances radiation sensitivity by induction of iron overload in prostate cancer cells. (23874600)
2013
5
Sample-to-SNP kit: a reliable, easy and fast tool for the detection of HFE p.H63D and p.C282Y variations associated to hereditary hemochromatosis. (22735619)
2012
6
Is the role of liver biopsy changing in hemochromatosis? A non invasive approach is ready. (23012679)
2012
7
Case 179: Hereditary hemochromatosis. (22357904)
2012
8
Hemochromatosis and ovarian cancer. (21879820)
2011
9
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia. (20007136)
2010
10
HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis. (20583211)
2010
11
Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis. (20190482)
2010
12
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report. (20482801)
2010
13
Effect of iron overload on glucose metabolism in patients with hereditary hemochromatosis. (19815242)
2010
14
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. (18762941)
2009
15
HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study. (20031565)
2009
16
Frequency of the S65C mutation in the hemochromatosis gene in Brazil. (19681031)
2009
17
Outcome of liver transplantation in hereditary hemochromatosis. (19490544)
2009
18
Novel aspects of pathogenesis of hereditary hemochromatosis]. (18634255)
2008
19
Bivariate mixture modeling of transferrin saturation and serum ferritin concentration in Asians, African Americans, Hispanics, and whites in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. (18201677)
2008
20
Liver and iron metabolism--a comprehensive hypothesis for the pathogenesis of genetic hemochromatosis. (17236123)
2007
21
Pathophysiology and genetics of classic HFE (type 1) hemochromatosis]. (17521857)
2007
22
A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis. (17470136)
2007
23
Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. (17828789)
2007
24
Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study. (16451136)
2006
25
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
26
Current approaches to the management of hemochromatosis. (17124037)
2006
27
Soluble transferrin receptor in hemochromatosis patients during phlebotomy therapy. (15698591)
2005
28
A mouse model of juvenile hemochromatosis. (16075059)
2005
29
Frequency of HFE mutations among Turkish blood donors according to transferrin saturation: genotype screening for hereditary hemochromatosis among voluntary blood donors in Turkey. (15319650)
2004
30
Mechanisms of disease: The role of hepcidin in iron homeostasis--implications for hemochromatosis and other disorders. (16265043)
2004
31
A previously undescribed frameshift deletion mutation of HFE (c.del277; G93fs) associated with hemochromatosis and iron overload in a C282Y heterozygote. (15324319)
2004
32
Co-localization of the mammalian hemochromatosis gene product (HFE) and a newly identified transferrin receptor (TfR2) in intestinal tissue and cells. (12704209)
2003
33
Population screening for hemochromatosis: a study in 5370 Spanish blood donors. (12763366)
2003
34
The hemochromatosis N144H mutation of SLC11A3 gene in patients with type 2 diabetes. (11914044)
2002
35
Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method. (11939483)
2002
36
A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study. (11257277)
2001
37
Hemochromatosis gene variants in three different ethnic populations: effects of admixture for screening programs. (11332643)
2001
38
Hemochromatosis caused by mutations in the iron-regulatory proteins ferroportin and H ferritin. (11774199)
2001
39
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. (11518736)
2001
40
Hemochromatosis mutations C282Y and H63D in 'cis' phase. (11531973)
2001
41
A rare case of a patient heterozygous for the hemochromatosis mutation C282Y and homozygous for H63D. (11783952)
2001
42
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
43
Asymptomatic hemochromatosis subjects: genotypic and phenotypic profiles. (11090050)
2000
44
Are the hemochromatosis (HFE) gene mutation and hepatitis C virus (HCV) infection risk factors for porphyria cutanea tarda?]. (11037612)
2000
45
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. (9546397)
1998
46
Major histocompatibility complex class I associations in iron overload: evidence for a new link between the HFE H63D mutation, HLA-A29, and non-classical forms of hemochromatosis. (9510559)
1998
47
Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal. (9211748)
1997
48
Outcome of liver transplantation in patients with hemochromatosis. (8045502)
1994
49
Association between heterozygous alpha 1-antitrypsin deficiency and genetic hemochromatosis. (8359811)
1993
50
Hemosiderosis and hemochromatosis in renal transplant recipients. Clinical and pathological features, diagnostic correlations, predisposing factors, and treatment. (3909817)
1985

Variations for Hemochromatosis

About this section
Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis:

65 (show all 12)
id Symbol AA change Variation ID SNP ID
1HFEp.Ser65CysVAR_004397rs1800730
2HFEp.Cys282TyrVAR_004398rs1800562
3HFEp.Gln127HisVAR_008113rs28934595
4HFEp.Arg330MetVAR_008114
5HFEp.Gly93ArgVAR_008729rs28934597
6HFEp.Ile105ThrVAR_008730rs28934596
7HFEp.Gln283ProVAR_037304
8HFEp.Arg6SerVAR_042506
9HFEp.Gly43AspVAR_042507
10HFEp.Arg66CysVAR_042508
11HFEp.Arg224GlyVAR_042510
12HFEp.Val295AlaVAR_042511rs143175221

Clinvar genetic disease variations for Hemochromatosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1HFENM_000410.3(HFE): c.187C> G (p.His63Asp)single nucleotide variantLikely benign, Likely pathogenic, Pathogenic, Uncertain significance, association, confers sensitivity, risk factorrs1799945GRCh37Chr 6, 26091179: 26091179
2HFENM_000410.3(HFE): c.193A> T (p.Ser65Cys)single nucleotide variantPathogenic, risk factorrs1800730GRCh37Chr 6, 26091185: 26091185
3HFENM_000410.3(HFE): c.314T> C (p.Ile105Thr)single nucleotide variantPathogenicrs28934596GRCh37Chr 6, 26091306: 26091306
4HFENM_000410.3(HFE): c.277G> C (p.Gly93Arg)single nucleotide variantPathogenicrs28934597GRCh37Chr 6, 26091269: 26091269
5HFENM_000410.3(HFE): c.381A> C (p.Gln127His)single nucleotide variantPathogenicrs28934595GRCh37Chr 6, 26091582: 26091582
6HFENM_000410.3(HFE): c.989G> T (p.Arg330Met)single nucleotide variantPathogenicrs111033558GRCh37Chr 6, 26093443: 26093443
7HFENM_000410.3(HFE): c.848A> C (p.Gln283Pro)single nucleotide variantPathogenicrs111033563GRCh37Chr 6, 26093144: 26093144
8HFE2NM_213653.3(HFE2): c.959G> T (p.Gly320Val)single nucleotide variantPathogenicrs74315323GRCh37Chr 1, 145416614: 145416614
9HFE2NM_213653.3(HFE2): c.963C> A (p.Cys321Ter)single nucleotide variantPathogenicrs121434374GRCh37Chr 1, 145416618: 145416618
10HFENM_000410.3(HFE): c.845G> A (p.Cys282Tyr)single nucleotide variantBenign, Pathogenic, association, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141

Expression for genes affiliated with Hemochromatosis

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hemochromatosis

Search GEO for disease gene expression data for Hemochromatosis.

Pathways for genes affiliated with Hemochromatosis

About this section
Sources:
51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database
See all sources

Pathways related to Hemochromatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.9SLC40A1, SLC11A2
29.6SLC11A2, SLC40A1, TF
3
Show member pathways
BMP receptor signaling39
BMP signalling and regulation39
BMP Signalling Pathway39
9.4BMP2, HFE2, UBE2D1
4
Show member pathways
9.2SLC11A2, SLC40A1, TFRC, TF
5
Show member pathways
9.2SLC11A2, SLC40A1, TFRC, TF
68.7SLC11A2, HAMP, TF, TFRC, TFR2, SLC40A1

Compounds for genes affiliated with Hemochromatosis

About this section
Sources:
46Novoseek, 12DrugBank, 25HMDB, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience
See all sources

Compounds related to Hemochromatosis according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
1aluminium citrate4610.2TF, TFRC
2gallium4610.2TFRC, TF
3deferiprone4610.2TF, TFRC
4aluminium46 1211.2TFRC, TF
5iron dextran46 1211.2TF, TFRC
6bismuth46 2511.2TF, TFRC
7apotransferrin4610.1TF, TFRC
8ferric ammonium citrate4610.1TFRC, TF
9succinylacetone4610.1TF, TFRC
10zinc protoporphyrin4610.1TFRC, TF
11chitosan4610.0TFRC, BMP2
12haem4610.0HFE, SLC11A2
13protoporphyrin ix46 25 1212.0TF, TFRC
145-aminolevulinic acid46 2511.0SLC11A2, HFE, TFRC
15tbps46 3010.9TF, TFRC
16fe3+469.9SLC11A2, TFRC, TF
17tetracycline46 1210.8BMP2, TFRC, TF
18polyethylene glycol469.8TF, TFRC, BMP2
19nh4cl469.8TF, TFRC
20citrate469.7SLC11A2, TFRC, TF
21copper46 2510.7TF, HFE, SLC40A1, SLC11A2
22tacrolimus46 52 1211.7BMP2, TFRC, TF
23deferoxamine46 1210.7SLC40A1, TFR2, TFRC, TF
24bafilomycin a146 62 1211.5TF, TFRC
25creatinine469.5HAMP, TF, TFRC, BMP2
26n acetylcysteine469.5SLC11A2, TFRC, TF
27fe2+469.4TF, TFRC, HFE, SLC40A1, SLC11A2
28ascorbic acid46 2510.4TF, TFRC, BMP2, HFE, SLC11A2
29cholesterol46 30 25 1212.3SLC11A2, HFE, BMP2, TF
30iron46 258.8SLC11A2, HAMP, MR1, TF, TFRC, TFR2

GO Terms for genes affiliated with Hemochromatosis

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Hemochromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basal part of cellGO:0451789.8SLC11A2, HFE, TF
2MHC class I protein complexGO:0426129.8HFE, HLA-H, MR1
3recycling endosomeGO:0550379.5SLC11A2, HFE, TF
4early endosomeGO:0057699.3TF, HFE, SLC11A2
5perinuclear region of cytoplasmGO:0484719.3SLC11A2, HFE, TFRC, TF
6cell surfaceGO:0099869.1TF, TFRC, BMP2, HFE2, SLC11A2
7integral component of plasma membraneGO:0058878.9TFRC, TFR2, HLA-H, HFE, SLC40A1, SLC11A2

Biological processes related to Hemochromatosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentationGO:0198829.9HFE, MR1
2multicellular organismal iron ion homeostasisGO:0605869.9HFE, SLC40A1, SLC11A2
3positive regulation of T cell mediated cytotoxicityGO:0019169.8HFE, HLA-H, MR1
4antigen processing and presentation of peptide antigen via MHC class IGO:0024749.7MR1, HLA-H, HFE
5BMP signaling pathwayGO:0305099.6BMP2, HFE2, UBE2D1
6transferrin transportGO:0335729.5TFRC, TF
7immune responseGO:0069559.5HFE, HLA-H, MR1, HAMP
8transmembrane transportGO:0550859.1TF, TFRC, SLC40A1, SLC11A2
9cellular iron ion homeostasisGO:0068798.7SLC11A2, SLC40A1, HFE, TFR2, TFRC, TF

Molecular functions related to Hemochromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transferrin receptor activityGO:0049989.9TFR2, TFRC
2peptide antigen bindingGO:0426059.4HFE, HLA-H, MR1

Products for genes affiliated with Hemochromatosis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemochromatosis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet