HC
MCID: HMC003
MIFTS: 80

Hemochromatosis (HC) malady

Genetic diseases category

Summaries for Hemochromatosis

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21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 3CDC, 63Wikipedia, 46OMIM, 32MalaCards
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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: 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 SLC-mediated transmembrane transport and Insulin receptor recycling. The drug deferoxamine mesylate and the compounds iron and ascorbic acid have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

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

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

Aliases & Classifications for Hemochromatosis

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Sources:
8Disease Ontology, 9diseasecard, 63Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 33MedlinePlus, 60UMLS, 22GTR, 34MeSH, 56SNOMED-CT, 39NCIt
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

hemochromatosis 8 9 63 42 21 46 10 44 33 60
hereditary hemochromatosis 63 22 44 60
iron storage disorder 8 63 21
haemochromatosis 8 63 21
bronze diabetes 8 63 21
von recklenhausen-applebaum disease 63 21
troisier-hanot-chauffard syndrome 63 21
familial hemochromatosis 63 21
genetic hemochromatosis 63 21
primary hemochromatosis 63 21
bronzed cirrhosis 63 21
hemochromatoses 63 21
hlah 63 21
hfe-associated hemochromatosis 63
pigmentary cirrhosis 21
bronzed diabetes 8
diabetes bronze 8
hc 21
hh 21


External Ids:

Disease Ontology8 DOID:2352
MeSH34 D006432
NCIt39 C84481

Related Diseases for Hemochromatosis

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Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hemochromatosis family:

Hemochromatosis Type 2 Hemochromatosis, Type 3
Hemochromatosis Type 1 Hemochromatosis Type 4
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 265)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis30.9HFE, TFR2, TF
2porphyria30.8TF, HFE
3porphyria cutanea tarda30.8HFE, HLA-H
4hemochromatosis type 230.8HFE2, HAMP
5hemochromatosis, type 330.8TFR2, HFE
6hemosiderosis30.7TF, HFE, FTL
7hepatitis c30.6TF, TFR2, HFE, HP, SLC11A2
8hemochromatosis type 430.6SLC40A1, TFR2
9siderosis30.6TF, TFRC, HFE, FTL, SLC40A1
10hfe-associated hereditary hemochromatosis30.5HFE
11diabetes mellitus30.4BMP2, TF, HFE, FTL, HP, FXN
12hepatocellular carcinoma30.4TF, HFE, SLC11A2
13beta thalassemia30.4TF, TFRC, HFE
14arthropathy30.3HFE, TF, BMP2
15arthritis30.3BMP2, TFR2, HFE, FTL, HP
16hereditary spherocytosis30.3TFRC, HFE
17hypogonadism30.3HFE, TF
18sideroblastic anemia30.2FXN, TFRC
19celiac disease30.2HFE, TFRC
20alzheimer's disease30.2SLC11A2, HFE
21deficiency anemia30.0HEPH, HAMP, TF, TFR2, TFRC, HFE
22iron metabolism disease30.0HFE
23polycythemia30.0TFRC
24fatty liver disease30.0TF, HFE, HP
25hepatitis b30.0HFE, TFRC
26iron deficiency anemia29.9HEPH, TF, TFRC, HFE, SLC11A2, SLC40A1
27hemolytic anemia29.9TF, TFRC, HFE, HP
28myocardial infarction29.9HFE
29bantu siderosis29.9HFE, TF
30galactosemia29.9TF, HFE, HP, SLC40A1
31wilson disease29.9HFE, TF
32liver cirrhosis29.9TF, TFR2, HFE, HP
33cataract29.9FTL
34alpha thalassemia29.8HFE, FTL, SLC11A2, TFRC, TF, HAMP
35diabetic nephropathy29.7BMP2, TF, TFRC, HFE, HP, SLC11A2
36aceruloplasminemia29.7HEPH, HAMP, TFR2, HFE2
37sickle cell disease29.7TF, TFRC, HP
38cystic fibrosis29.7HP
39myeloma29.7TFRC, BMP2
40congenital hemolytic anemia29.7TF, HP
41megaloblastic anemia29.7TFRC, HP
42tuberculosis29.7SLC11A2, HP
43neonatal hemochromatosis10.8
44liver disease10.5
45thalassemia10.5
46hemochromatosis type 110.4
47hepatitis a10.4
48hemochromatosis, type 2a10.3
49tfr2-related hereditary hemochromatosis10.2
50hypotrichosis simplex10.2

Graphical network of the top 20 diseases related to Hemochromatosis:



Diseases related to hemochromatosis

Clinical Features for Hemochromatosis

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Sources:
46OMIM
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Clinical features from OMIM:

604250,613313,606069,602390,235200

Clinical synopsis from OMIM:

235200

Drugs & Therapeutics for Hemochromatosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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 UMLS60/NDF-RT40:

Genetic Tests for Hemochromatosis

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Sources:
22GTR
See all sources

Genetic tests related to Hemochromatosis:

id Genetic test Affiliating Genes
1 Hereditary Hemochromatosis22

Anatomical Context for Hemochromatosis

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Sources:
32MalaCards
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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, Prostate, Ovary, Thyroid, Kidney, Endothelial, T cells, Colon, Tongue, Brain, Placenta, Pituitary

Animal Models for Hemochromatosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hemochromatosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.8TFR2, TF, BMP2, HAMP, HEPH, TFRC
2MP:000537010.8SLC40A1, HEPH, TFR2, TFRC, HFE, HFE2
3MP:000537810.7BMP2, TF, TFR2, TFRC, HFE, FXN
4MP:000539710.7HEPH, MR1, HAMP, TF, TFR2, TFRC
5MP:000538710.4TFR2, HAMP, MR1, HEPH, TFRC, HFE

Publications for Hemochromatosis

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Sources:
50PubMed
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Articles related to Hemochromatosis:

(show top 50)    (show all 1154)
idTitleAuthorsYear
1
Increased height in HFE hemochromatosis. (23964954)
2013
2
Case 179: Hereditary hemochromatosis. (22357904)
2012
3
Progressive pigmented purpuric dermatitis and alopecia areata as unusual skin manifestations in recognizing hereditary hemochromatosis. (23069304)
2012
4
Hemochromatosis: discovery of the HFE gene. (22675794)
2012
5
Iranian hereditary hemochromatosis patients: baseline characteristics, laboratory data and gene mutations. (23018356)
2012
6
Low prevalence of hereditary hemochromatosis in multiethnic populations in Northern Norway. (20950210)
2011
7
Beyond hereditary hemochromatosis: new insights into the relationship between iron overload and chronic liver diseases. (20739232)
2011
8
Was the C282Y mutation an Irish Gaelic mutation that the Vikings helped disseminate? HLA haplotype observations of hemochromatosis from the west coast of Sweden. (20946107)
2011
9
Labial salivary gland biopsy in the investigation of neonatal hemochromatosis. (21723022)
2011
10
Hemochromatosis, iron toxicity and disease. (20695974)
2010
11
Genetic mechanisms and modifying factors in hereditary hemochromatosis. (19918260)
2010
12
Recurrent pregnancy-induced diabetes insipidus in a woman with hemochromatosis. (20953066)
2010
13
Natural history of TFR2-related hereditary hemochromatosis in a 47-yr-old Italian patient. (19549277)
2009
14
Hereditary hemochromatosis: a neglected diagnosis in orthopedics: a series of 7 patients with ankle arthritis, and a review of the literature. (19593723)
2009
15
Modifying factors of the HFE hemochromatosis phenotype. (19072401)
2008
16
Iron-overload-related disease in HFE hereditary hemochromatosis. (18499578)
2008
17
Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality. (17236206)
2007
18
Hepatic iron metabolism gene expression profiles in HFE associated hereditary hemochromatosis. (17098454)
2007
19
Psychosocial impact of genetic testing for hemochromatosis in the HEIRS Study: a comparison of participants recruited in Canada and in the United States. (17394393)
2007
20
Neonatal hemochromatosis: a congenital alloimmune hepatitis. (17682971)
2007
21
Hereditary hemochromatosis]. (18293685)
2007
22
The HLA-A1-B8 haplotype hitchhiking with the hemochromatosis mutation: does it affect the phenotype? (17924859)
2007
23
Ankle arthropathy of hemochromatosis: a case series and review of the literature. (17144950)
2006
24
Iron regulatory proteins 1 and 2 in human monocytes, macrophages and duodenum: expression and regulation in hereditary hemochromatosis and iron deficiency. (16503547)
2006
25
Molecular genetic diagnostics and screening of hereditary hemochromatosis]. (16871764)
2006
26
Bone mineral density in men with genetic hemochromatosis and HFE gene mutation. (15928800)
2005
27
Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin. (15831700)
2005
28
Recent advances in hereditary hemochromatosis. (15747119)
2005
29
HFE genotyping demonstrates a significant incidence of hemochromatosis in undifferentiated arthritis. (15789881)
2005
30
Two novel mutations, L490R and V561X, of the transferrin receptor 2 gene in Japanese patients with hemochromatosis. (15749661)
2005
31
Genotype and phenotypic expression of hereditary hemochromatosis in Spain]. (15388046)
2004
32
Linked linear amplification for simultaneous analysis of the two most common hemochromatosis mutations. (12816900)
2003
33
Current directions in hemochromatosis research: towards an understanding of the role of iron overload and the HFE gene mutations in the development of clinical disease. (12638463)
2003
34
Can defects in transferrin receptor 2 and hereditary hemochromatosis genes account for iron overload in HbH disease? (12667993)
2003
35
Relationship between HFE gene and hereditary hemochromatosis]. (11941597)
2002
36
S65c frequency in Italian patients with hemochromatosis, porphyria cutanea tarda and chronic viral hepatitis with iron overload. (11255280)
2001
37
Hemochromatosis genes and other factors contributing to the pathogenesis of porphyria cutanea tarda. (10688809)
2000
38
Genes that modify the hemochromatosis phenotype in mice. (10791995)
2000
39
Congenital generalized infantile myofibromatosis and neonatal hemochromatosis. An autopsy case report. (11196755)
2000
40
Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C. (9620344)
1998
41
Iron overload, public health, and genetics: evaluating the evidence for hemochromatosis screening. (9867750)
1998
42
Hereditary hemochromatosis: effects of C282Y and H63D mutations on association with beta2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells. (9356458)
1997
43
Mutations of the hereditary hemochromatosis candidate gene HLA-H in porphyria cutanea tarda. (9132598)
1997
44
Long-term survival of 2 cases of hemochromatosis respectively homozygous for His63Asp and Cys282Tyr mutations]. (9446207)
1997
45
Serum concentrations of transferrin receptor in hereditary hemochromatosis. (7600692)
1995
46
Biochemical liver profile in hemochromatosis. A survey of 100 patients. (2066547)
1991
47
Fetal liver disease may precede extrahepatic siderosis in neonatal hemochromatosis. (2110917)
1990
48
Hemochromatosis heterozygotes may have significant iron overload when they also have hereditary spherocytosis. (3777017)
1986
49
Severe hemochromatosis: the predominant clinical manifestation of congenital dyserythropoietic anemia type 2. (3938164)
1985
50
Hemochromatosis and hemosiderosis; does iron overload cause diffuse fibrosis of the liver? (13372562)
1956

Genetic Variations for Hemochromatosis

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Hemochromatosis:

62 (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

Expression for genes affiliated with Hemochromatosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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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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Sources:
53Reactome, 37NCBI BioSystems Database, 29KEGG
See all sources

Compounds for genes affiliated with Hemochromatosis

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 2BitterDB, 49PharmGKB
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Compounds related to Hemochromatosis according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1iron44 2412.3SLC40A1, HEPH, MR1, UBE2D1, HAMP, TF
2ascorbic acid44 2412.1BMP2, TF, TFRC, MT-CYB, HFE, CYBRD1
3deferoxamine44 1112.1TF, TFR2, TFRC, FTL, HP, FXN
4copper44 2412.0HEPH, TF, MT-CYB, HFE, HP, SLC11A2
5fe2+4411.0TF, TFRC, MT-CYB, HFE, SLC11A2, SLC40A1
6fe3+4411.0TF, TFRC, MT-CYB, FTL, CYBRD1, SLC11A2
7protoporphyrin ix44 11 2413.0TF, TFRC, FTL, HP, FXN
8creatinine4411.0HAMP, BMP2, TF, TFRC, MT-CYB, HP
9heme28 11 2413.0TF, MT-CYB, HFE, CYBRD1, FXN
10ferric ammonium citrate4411.0TF, TFRC, FTL, FXN
11haem4411.0MT-CYB, HFE, FTL, SLC11A2
12fenton4411.0FXN, FTL, MT-CYB, TF
13cholesterol44 28 11 2413.9BMP2, TF, HFE, FTL, HP, SLC11A2
14chloroquine44 2 49 28 1114.9TF, TFRC, FTL, HP
15polyethylene glycol4410.9BMP2, TF, TFRC, HP
16iron dextran44 1111.9FTL, TFRC, TF
17zinc protoporphyrin4410.9HP, TFRC, TF
185-aminolevulinic acid44 2411.9TFRC, HFE, SLC11A2
19alanine4410.9HP, HFE, MT-CYB, TFRC, TF, BMP2
20citrate4410.9TF, TFRC, HP, SLC11A2
21aluminium citrate4410.9TFRC, TF
22folate4410.9TF, TFRC, FTL, HP
23ferrozine4410.9FTL, TF
24gallium4410.9TFRC, TF
25aspartate4410.9TF, TFRC, MT-CYB, HFE, HP
26deferiprone4410.8TFRC, TF
27aluminium44 1111.8TF, TFRC
28vitamin b124410.8HP, TFRC, TF
29bismuth44 2411.7TF, TFRC
30apotransferrin4410.7TF, TFRC
31succinate4410.7TF, MT-CYB, FXN
32n acetylcysteine4410.7SLC11A2, FXN, TFRC, TF
33tetracycline44 1111.7TFRC, TF, BMP2
34cysteine4410.6MR1, BMP2, TFRC, HFE, HP, FXN
35polysaccharide4410.6BMP2, TFRC, HP
36benzidine4410.5HP, TFRC
37glucose4410.5BMP2, MT-CYB, HFE, HP, FXN, SLC11A2
38succinylacetone4410.2TFRC, TF

GO Terms for genes affiliated with Hemochromatosis

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16Gene Ontology
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Cellular components related to Hemochromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588710.6SLC40A1, SLC11A2, HFE, HLA-H, TFRC, TFR2
2basal part of cellGO:04517810.6SLC11A2, HFE, TF
3MHC class I protein complexGO:04261210.6MR1, HLA-H, HFE
4recycling endosomeGO:05503710.5SLC11A2, HFE, TF
5perinuclear region of cytoplasmGO:04847110.3HEPH, TF, TFRC, HFE, SLC11A2

Biological processes related to Hemochromatosis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cellular iron ion homeostasisGO:00687911.0SLC40A1, HEPH, HAMP, TF, TFR2, TFRC
2transmembrane transportGO:05508510.8HEPH, TF, TFRC, FTL, CYBRD1, SLC11A2
3multicellular organismal iron ion homeostasisGO:06058610.8HFE, SLC11A2, SLC40A1
4response to iron ionGO:01003910.7SLC11A2, FXN, CYBRD1
5iron ion transportGO:00682610.7HEPH, TFR2, FTL
6positive regulation of T cell mediated cytotoxicityGO:00191610.6HFE, HLA-H, MR1
7immune responseGO:00695510.6HFE, HLA-H, HAMP, MR1
8BMP signaling pathwayGO:03050910.5UBE2D1, BMP2, HFE2
9antigen processing and presentation of peptide antigen via MHC class IGO:00247410.5HFE, HLA-H, MR1
10copper ion transportGO:00682510.2HEPH, SLC11A2

Molecular functions related to Hemochromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551510.8BMP2, PPP1R11, TF, TFRC, HFE, HFE2
2ferric iron bindingGO:00819910.5FXN, FTL, TF
3transferrin receptor activityGO:00499810.4TFRC, TFR2
4peptide antigen bindingGO:04260510.3MR1, HLA-H, HFE

Products for genes affiliated with Hemochromatosis

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  • Antibodies
  • Proteins
  • Lysates
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Sources for Hemochromatosis

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet