HC
MCID: HMC003
MIFTS: 83

Hemochromatosis (HC) malady

Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Nephrological diseases, Blood diseases categories
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Summaries for Hemochromatosis

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MedlinePlus:33 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 based summary: Hemochromatosis, also known as hereditary hemochromatosis, is related to hemochromatosis, type 3 and hfe-associated hereditary hemochromatosis, and has symptoms including 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 skin, and related mouse phenotypes are liver/biliary system and growth/size/body.

Genetics Home Reference:21 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:42 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:3 Online Training - Online training course for clinicians and health professionals.

Wikipedia:65 In medicine, iron overload indicates accumulation of iron in the body from any cause. The most important... more...

Descriptions from OMIM:46 235200,602390,604250,613313,606069

Aliases & Classifications for Hemochromatosis

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Hemochromatosis, Aliases & Descriptions:

Name: Hemochromatosis 8 9 65 42 21 46 10 44 33 62
Hereditary Hemochromatosis 65 22 44 62
Iron Storage Disorder 8 65 21 62
Haemochromatosis 8 65 21 62
Von Recklenhausen-Applebaum Disease 65 21 62
Troisier-Hanot-Chauffard Syndrome 65 21 62
Genetic Hemochromatosis 65 21 62
Bronzed Cirrhosis 65 21 62
Bronze Diabetes 8 65 21
Familial Hemochromatosis 65 21
 
Primary Hemochromatosis 65 21
Pigmentary Cirrhosis 21 62
Bronzed Diabetes 8 62
Hemochromatoses 65 21
Hlah 65 21
Hfe-Associated Hemochromatosis 65
Diabetes Bronze 8
Hc 21
Hh 21


Classifications:



External Ids:

Disease Ontology8 DOID:2352
MeSH34 D006432
NCIt39 C84481

Related Diseases for Hemochromatosis

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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 283)
idRelated DiseaseScoreTop Affiliating Genes
1hemochromatosis, type 331.4HFE, TFR2
2hfe-associated hereditary hemochromatosis31.4HFE
3hemochromatosis type 431.4SLC40A1, TFR2
4hemochromatosis type 231.4HAMP, HFE2
5hepatitis31.4HFE, TFR2, TF
6porphyria31.3TF, HFE
7hemosiderosis31.3HFE, TF
8porphyria cutanea tarda31.1TFRC, HFE, TF
9hepatitis c30.9HAMP, HFE, TF, TFR2
10hypogonadism30.8TF, HFE
11bantu siderosis30.7HFE, TF
12siderosis30.7HFE, TFRC, TF, SLC40A1
13hereditary spherocytosis30.7TFRC, HFE
14beta thalassemia30.7HFE, TFRC, TF
15arthropathy30.6TF, BMP2, HFE
16hyperferritinemia cataract syndrome30.5HFE, TF
17galactosemia30.4HFE, HAMP, TF
18iron metabolism disease30.4HFE, HFE2, TF
19aceruloplasminemia30.4TFR2, HFE2, HAMP
20myelodysplastic syndromes30.3TFRC, HFE, TF
21wilson disease30.3TF, HFE
22hemolytic anemia30.1TF, TFRC, HFE
23liver cirrhosis30.0TFR2, TF, HFE
24alcoholic liver cirrhosis30.0TF, HFE
25iron deficiency anemia29.7TFRC, TF, HFE, SLC11A2, SLC40A1
26alpha thalassemia29.6HAMP, TF, TFRC, HFE, SLC11A2
27deficiency anemia29.4HAMP, TF, TFRC, TFR2, HFE2, HFE
28diabetic nephropathy29.3TFRC, SLC11A2, HFE, BMP2, TF
29neonatal hemochromatosis10.9
30liver disease10.6
31microvascular complications of diabetes 710.5HFE
32thalassemia10.5
33hemochromatosis type 110.4
34diabetes mellitus10.3
35hepatocellular carcinoma10.3
36atransferrinemia10.3TFR2, TF
37hemochromatosis, type 2a10.3
38arthritis10.3
39haemochromatosis type 410.3
40duodenitis10.3
41tfr2-related hereditary hemochromatosis10.3
42hypogonadotropic hypogonadism 2 with or without anosmia10.2
43hypotrichosis 110.2
44sideroblastic anemia10.2
45hepatitis c virus10.2
46refractory anemia10.2
47nutritional deficiency disease10.2TFRC, HAMP
48tetanus10.2
49alcohol abuse10.2HFE, TF
50celiac disease10.2

Graphical network of the top 20 diseases related to Hemochromatosis:



Diseases related to hemochromatosis

Symptoms for Hemochromatosis

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Symptoms by clinical synopsis from OMIM:

235200

Clinical features from OMIM:

235200,602390,604250,613313,606069

HPO human phenotypes related to Hemochromatosis:

(show all 26)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 azoospermia HP:0000027
3 testicular atrophy HP:0000029
4 hypogonadotrophic hypogonadism HP:0000044
5 amenorrhea HP:0000141
6 impotence HP:0000802
7 diabetes mellitus HP:0000819
8 osteoporosis HP:0000939
9 hyperpigmentation of the skin HP:0000953
10 telangiectasia HP:0001009
11 cirrhosis HP:0001394
12 hepatocellular carcinoma HP:0001402
13 ascites HP:0001541
14 alopecia HP:0001596
15 congestive heart failure HP:0001635
16 cardiomyopathy HP:0001638
17 cardiomegaly HP:0001640
18 splenomegaly HP:0001744
19 abnormal glucose tolerance HP:0001952
20 pleural effusion HP:0002202
21 hepatomegaly HP:0002240
22 elevated hepatic transaminases HP:0002910
23 arthropathy HP:0003040
24 increased serum ferritin HP:0003281
25 increased serum iron HP:0003452
26 arrhythmia HP:0011675

Drugs & Therapeutics for Hemochromatosis

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Drug clinical trials:

Search ClinicalTrials for Hemochromatosis

Search NIH Clinical Center for Hemochromatosis

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Hemochromatosis

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Genetic tests related to Hemochromatosis:

id Genetic test Affiliating Genes
1 Hereditary Hemochromatosis22

Anatomical Context for Hemochromatosis

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MalaCards organs/tissues related to Hemochromatosis:

32
Liver, Heart, Skin, Pancreas, Testes, Lung, Bone, Breast, Fetal liver, Bone marrow, Salivary gland, Monocytes, Spleen, Kidney, Thyroid, Ovary, Prostate, Brain, Colon, Placenta, T cells, Endothelial, Tongue, Pituitary

Animal Models for Hemochromatosis or affiliated genes

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MGI Mouse Phenotypes related to Hemochromatosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.2TFRC, TFR2, HFE2, HFE, SLC40A1, SLC11A2
2MP:00053788.7TF, TFRC, TFR2, BMP2, HFE, SLC40A1
3MP:00053978.5SLC11A2, HAMP, MR1, TF, TFRC, TFR2
4MP:00053768.4HAMP, TF, TFRC, TFR2, BMP2, HFE2
5MP:00053878.4HAMP, MR1, TFRC, TFR2, HFE2, HFE

Publications for Hemochromatosis

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Articles related to Hemochromatosis:

(show top 50)    (show all 1165)
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
All patients with 'idiopathic' hypopituitarism should be screened for hemochromatosis. (18270843)
2009
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
A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study. (11257277)
2001
36
Hemochromatosis gene variants in three different ethnic populations: effects of admixture for screening programs. (11332643)
2001
37
Hemochromatosis caused by mutations in the iron-regulatory proteins ferroportin and H ferritin. (11774199)
2001
38
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. (11518736)
2001
39
Hemochromatosis mutations C282Y and H63D in 'cis' phase. (11531973)
2001
40
A rare case of a patient heterozygous for the hemochromatosis mutation C282Y and homozygous for H63D. (11783952)
2001
41
Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCR-ELISA technique. (11686223)
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

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UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis:

64 (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:

6
id Gene Name Type Significance SNP ID Assembly Location
1HFENM_000410.3(HFE): c.187C> G (p.His63Asp)single nucleotide variantLikely pathogenic, Pathogenic, confers sensitivity, risk factorrs1799945GRCh37Chr 6, 26091179: 26091179
2HFENM_000410.3(HFE): c.193A> T (p.Ser65Cys)single nucleotide variantPathogenicrs1800730GRCh37Chr 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 variantPathogenic, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141

Expression for genes affiliated with Hemochromatosis

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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

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Pathways related to Hemochromatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0SLC40A1, SLC11A2
29.8SLC11A2, SLC40A1, TF
3
Show member pathways
BMP receptor signaling37
BMP signalling and regulation37
BMP Signalling Pathway37
9.7BMP2, HFE2, UBE2D1
4
Show member pathways
9.5SLC11A2, SLC40A1, TFRC, TF
5
Show member pathways
9.5SLC11A2, SLC40A1, TFRC, TF
69.1SLC11A2, HAMP, TF, TFRC, TFR2, SLC40A1

Compounds for genes affiliated with Hemochromatosis

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 50PharmGKB
See all sources

Compounds related to Hemochromatosis according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1aluminium citrate4410.3TFRC, TF
2gallium4410.3TF, TFRC
3deferiprone4410.3TFRC, TF
4aluminium44 1111.3TF, TFRC
5iron dextran44 1111.3TF, TFRC
6bismuth44 2411.3TF, TFRC
7apotransferrin4410.2TF, TFRC
8ferric ammonium citrate4410.2TFRC, TF
9succinylacetone4410.2TFRC, TF
10zinc protoporphyrin4410.2TFRC, TF
115-aminolevulinic acid44 2411.1TFRC, HFE, SLC11A2
12protoporphyrin ix44 24 1112.1TFRC, TF
13chitosan4410.1BMP2, TFRC
14fe3+4410.1SLC11A2, TFRC, TF
15tetracycline44 1111.0BMP2, TFRC, TF
16polyethylene glycol4410.0TF, TFRC, BMP2
17tbps44 2811.0TF, TFRC
18nh4cl4410.0TFRC, TF
19haem449.9HFE, SLC11A2
20copper44 2410.9SLC11A2, SLC40A1, HFE, TF
21deferoxamine44 1110.9SLC40A1, TFR2, TFRC, TF
22citrate449.9TF, TFRC, SLC11A2
23fe2+449.7TF, TFRC, HFE, SLC40A1, SLC11A2
24ascorbic acid44 2410.7TF, TFRC, BMP2, HFE, SLC11A2
25creatinine449.6HAMP, TF, TFRC, BMP2
26tacrolimus44 50 1111.4BMP2, TFRC, TF
27iron44 249.5SLC11A2, HAMP, MR1, TF, TFRC, TFR2

GO Terms for genes affiliated with Hemochromatosis

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Cellular components related to Hemochromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1basal part of cellGO:04517810.0SLC11A2, HFE, TF
2MHC class I protein complexGO:0426129.9HFE, HLA-H, MR1
3recycling endosomeGO:0550379.8TF, HFE, SLC11A2
4perinuclear region of cytoplasmGO:0484719.5SLC11A2, HFE, TFRC, TF
5early endosomeGO:0057699.5TF, HFE, SLC11A2
6cell surfaceGO:0099869.4TF, TFRC, BMP2, HFE2, SLC11A2
7integral component of plasma membraneGO:0058879.1SLC11A2, SLC40A1, HFE, HLA-H, TFR2, TFRC

Biological processes related to Hemochromatosis according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1antigen processing and presentationGO:01988210.0HFE, MR1
2multicellular organismal iron ion homeostasisGO:06058610.0HFE, SLC40A1, SLC11A2
3positive regulation of T cell mediated cytotoxicityGO:00191610.0HFE, HLA-H, MR1
4antigen processing and presentation of peptide antigen via MHC class IGO:0024749.9HFE, HLA-H, MR1
5transferrin transportGO:0335729.9TF, TFRC
6BMP signaling pathwayGO:0305099.8BMP2, HFE2, UBE2D1
7immune responseGO:0069559.6HFE, HLA-H, MR1, HAMP
8transmembrane transportGO:0550859.2SLC11A2, SLC40A1, TFRC, TF
9cellular iron ion homeostasisGO:0068799.1SLC11A2, SLC40A1, HFE, TFR2, TFRC, TF

Molecular functions related to Hemochromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transferrin receptor activityGO:00499810.0TFR2, TFRC
2peptide antigen bindingGO:0426059.5HFE, HLA-H, MR1

Products for genes affiliated with Hemochromatosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Hemochromatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet