MCID: HMC003
MIFTS: 86

Hemochromatosis malady

Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases categories

Summaries for Hemochromatosis

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OMIM:47 Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess... (235200) more...

MalaCards based summary: Hemochromatosis, also known as hereditary hemochromatosis, is related to hepatitis and porphyria, and has symptoms including autosomal recessive inheritance, azoospermia and testicular atrophy. An important gene associated with Hemochromatosis is HFE (hemochromatosis), and among its related pathways are Metal ion SLC transporters and Signaling by BMP. 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.

Disease Ontology:10 A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.

NIH Rare Diseases:43 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

MedlinePlus:34 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

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

Genetics Home Reference:23 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.

Aliases & Classifications for Hemochromatosis

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Hemochromatosis, Aliases & Descriptions:

Name: Hemochromatosis 47 10 11 65 43 23 12 45 34 4 62
Hereditary Hemochromatosis 65 45 24 62
Iron Storage Disorder 10 65 23 62
Haemochromatosis 10 65 23 62
Von Recklenhausen-Applebaum Disease 65 23 62
Troisier-Hanot-Chauffard Syndrome 65 23 62
Genetic Hemochromatosis 65 23 62
Bronzed Cirrhosis 65 23 62
Familial Hemochromatosis 65 23
Primary Hemochromatosis 65 23
Pigmentary Cirrhosis 23 62
Bronze Diabetes 65 23
 
Hemochromatoses 65 23
Hlah 65 23
Hfe Hemochromatosis, Modifier of 47
Hfe-Associated Hemochromatosis 65
Classic Hemochromatosis 43
Hemochromatosis Classic 43
Hemochromatosis Type 1 43
Bronzed Diabetes 62
Diabetes Bronze 10
Hh 23
Hc 23


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Liver diseases


External Ids:

OMIM47 235200
Disease Ontology10 DOID:2352
NCIt40 C84481
MeSH35 D006432

Related Diseases for Hemochromatosis

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Diseases in the Hemochromatosis family:

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

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

(show top 50)    (show all 247)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis31.1HFE, TFR2, TF
2porphyria31.0HFE, TF
3porphyria cutanea tarda31.0TF, HFE, TFRC
4hemosiderosis30.9HFE, TF
5hemochromatosis, type 330.9TFR2, HFE
6liver disease30.9HFE, TF, HAMP
7hemochromatosis type 230.9HAMP, HFE2
8hemochromatosis, type 430.8TFR2, SLC40A1
9thalassemia30.8HAMP, TF, TFRC, HFE, SLC11A2
10hepatitis c30.8HAMP, TF, TFR2, HFE
11siderosis30.8TF, TFRC, HFE, SLC40A1
12hfe-associated hereditary hemochromatosis30.8HFE
13arthropathy30.5TF, BMP2, HFE
14hereditary spherocytosis30.5HFE, TFRC
15hypogonadism30.4HFE, TF
16myelodysplastic syndrome30.4TF, TFRC, HFE
17bantu siderosis30.3TF, HFE
18deficiency anemia30.1HAMP, TF, TFRC, TFR2, HFE2, HFE
19hyperferritinemia-cataract syndrome30.1TF, HFE
20wilson disease30.1HFE, TF
21hemolytic anemia30.0TF, TFRC, HFE
22iron deficiency anemia30.0TF, TFRC, HFE, SLC40A1, SLC11A2
23aceruloplasminemia29.9HFE2, TFR2, HAMP
24iron metabolism disease29.9TF, HFE2, HFE
25liver cirrhosis29.8HFE, TFR2, TF
26alcoholic liver cirrhosis29.8TF, HFE
27neonatal hemochromatosis10.9
28hepatocellular carcinoma10.4
29hemochromatosis, type 2a10.3
30arthritis10.3
31haemochromatosis type 410.3
32duodenitis10.3
33tfr2-related hereditary hemochromatosis10.3
34hepatitis c virus10.3
35sideroblastic anemia10.3
36hypogonadotropic hypogonadism 2 with or without anosmia10.2
37hypotrichosis 110.2
38tetanus10.2
39hemochromatosis, type 2b10.2
40obesity10.2
41celiac disease10.2
42leukemia10.2
43juvenile hereditary hemochromatosis10.2
44refractory anemia10.2
45aplastic anemia10.2
46congenital dyserythropoietic anemia10.2
47meconium ileus10.1
48ileus10.1
49hajdu-cheney syndrome10.1
50neuroblastoma10.1

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

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-RT41:

Genetic Tests for Hemochromatosis

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Genetic tests related to Hemochromatosis:

id Genetic test Affiliating Genes
1 Hereditary Hemochromatosis24

Anatomical Context for Hemochromatosis

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MalaCards organs/tissues related to Hemochromatosis:

33
Liver, Heart, Skin, Testes, Pancreas, Lung, Bone, Breast, Fetal liver, Bone marrow, Salivary gland, Monocytes, Spleen, Kidney, Thyroid, Ovary, Prostate, Brain, Placenta, T cells, Endothelial, Tongue, Pituitary

Animal Models for Hemochromatosis or affiliated genes

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MGI Mouse Phenotypes related to Hemochromatosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.3TFRC, TFR2, HFE2, HFE, SLC40A1, SLC11A2
2MP:00053788.9TF, TFRC, TFR2, BMP2, HFE, SLC40A1
3MP:00053978.7SLC11A2, HAMP, MR1, TF, TFRC, TFR2
4MP:00053768.6HAMP, TF, TFRC, TFR2, BMP2, HFE2
5MP:00053878.6HAMP, MR1, TFRC, TFR2, HFE2, HFE

Publications for Hemochromatosis

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Articles related to Hemochromatosis:

(show top 50)    (show all 1191)
idTitleAuthorsYear
1
Re: PC Adams. Genetic testing for hemochromatosis: Diagnostic or confirmatory test for iron overload? Can J Gastroenterol Hepatol 2015;29(1):15-6. (25855881)
2015
2
Increased height in HFE hemochromatosis. (23964954)
2013
3
Intrahepatic cholangiocarcinoma: impact of genetic hemochromatosis on outcome and overall survival after surgical resection. (23183056)
2013
4
Paraoxonase-1 status in patients with hereditary hemochromatosis. (23471031)
2013
5
Inhibition of I^2-microglobulin/hemochromatosis enhances radiation sensitivity by induction of iron overload in prostate cancer cells. (23874600)
2013
6
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
7
Is the role of liver biopsy changing in hemochromatosis? A non invasive approach is ready. (23012679)
2012
8
Case 179: Hereditary hemochromatosis. (22357904)
2012
9
Hemochromatosis and ovarian cancer. (21879820)
2011
10
Homozygous deletion of HFE is the common cause of hemochromatosis in Sardinia. (20007136)
2010
11
HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis. (20583211)
2010
12
Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis. (20190482)
2010
13
Hepatic failure, neonatal hemochromatosis and porto-pulmonary hypertension in a newborn with trisomy 21--a case report. (20482801)
2010
14
All patients with 'idiopathic' hypopituitarism should be screened for hemochromatosis. (18270843)
2009
15
Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes. (18762941)
2009
16
HFE C282Y homozygosity is associated with lower total and low-density lipoprotein cholesterol: The hemochromatosis and iron overload screening study. (20031565)
2009
17
Frequency of the S65C mutation in the hemochromatosis gene in Brazil. (19681031)
2009
18
Outcome of liver transplantation in hereditary hemochromatosis. (19490544)
2009
19
Novel aspects of pathogenesis of hereditary hemochromatosis]. (18634255)
2008
20
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
21
Liver and iron metabolism--a comprehensive hypothesis for the pathogenesis of genetic hemochromatosis. (17236123)
2007
22
Pathophysiology and genetics of classic HFE (type 1) hemochromatosis]. (17521857)
2007
23
A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis. (17470136)
2007
24
Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. (17828789)
2007
25
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
26
Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. (17137171)
2006
27
Current approaches to the management of hemochromatosis. (17124037)
2006
28
Soluble transferrin receptor in hemochromatosis patients during phlebotomy therapy. (15698591)
2005
29
A mouse model of juvenile hemochromatosis. (16075059)
2005
30
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
31
Mechanisms of disease: The role of hepcidin in iron homeostasis--implications for hemochromatosis and other disorders. (16265043)
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:

7
id Gene Variation 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 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 variantPathogenic, confers sensitivity, risk factorrs1800562GRCh37Chr 6, 26093141: 26093141

Expression for genes affiliated with Hemochromatosis

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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
10.1SLC40A1, SLC11A2
2
Show member pathways
BMP receptor signaling38
BMP signalling and regulation38
BMP Signalling Pathway38
9.8BMP2, HFE2, UBE2D1
39.8SLC11A2, SLC40A1, TF
4
Show member pathways
9.6SLC11A2, SLC40A1, TFRC, TF
5
Show member pathways
9.6SLC11A2, SLC40A1, TFRC, TF
69.2SLC11A2, HAMP, TF, TFRC, TFR2, SLC40A1

Compounds for genes affiliated with Hemochromatosis

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Sources:
45Novoseek, 13DrugBank, 26HMDB, 30IUPHAR, 51PharmGKB
See all sources

Compounds related to Hemochromatosis according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1aluminium citrate4510.4TFRC, TF
2gallium4510.4TF, TFRC
3deferiprone4510.4TFRC, TF
4aluminium45 1311.3TF, TFRC
5iron dextran45 1311.3TF, TFRC
6bismuth45 2611.3TF, TFRC
7apotransferrin4510.3TF, TFRC
8ferric ammonium citrate4510.3TFRC, TF
9succinylacetone4510.3TFRC, TF
10zinc protoporphyrin4510.2TFRC, TF
115-aminolevulinic acid45 2611.2TFRC, HFE, SLC11A2
12chitosan4510.2BMP2, TFRC
13protoporphyrin ix45 26 1312.2TFRC, TF
14fe3+4510.2SLC11A2, TFRC, TF
15tetracycline45 1311.1BMP2, TFRC, TF
16polyethylene glycol4510.1TF, TFRC, BMP2
17tbps45 3011.0TF, TFRC
18nh4cl4510.0TFRC, TF
19copper45 2611.0SLC11A2, SLC40A1, HFE, TF
20deferoxamine45 1311.0SLC40A1, TFR2, TFRC, TF
21haem4510.0HFE, SLC11A2
22citrate4510.0TF, TFRC, SLC11A2
23ascorbic acid45 2610.8TF, TFRC, BMP2, HFE, SLC11A2
24fe2+459.8TF, TFRC, HFE, SLC40A1, SLC11A2
25creatinine459.7HAMP, TF, TFRC, BMP2
26tacrolimus45 51 1311.6BMP2, TFRC, TF
27iron45 269.7SLC11A2, 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:004517810.0SLC11A2, HFE, TF
2MHC class I protein complexGO:004261210.0HFE, HLA-H, MR1
3recycling endosomeGO:00550379.9TF, HFE, SLC11A2
4perinuclear region of cytoplasmGO:00484719.7SLC11A2, HFE, TFRC, TF
5early endosomeGO:00057699.6TF, HFE, SLC11A2
6cell surfaceGO:00099869.5TF, TFRC, BMP2, HFE2, SLC11A2
7integral component of plasma membraneGO:00058879.2SLC11A2, 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:001988210.1HFE, MR1
2multicellular organismal iron ion homeostasisGO:006058610.1HFE, SLC40A1, SLC11A2
3positive regulation of T cell mediated cytotoxicityGO:000191610.0HFE, HLA-H, MR1
4antigen processing and presentation of peptide antigen via MHC class IGO:000247410.0HFE, HLA-H, MR1
5BMP signaling pathwayGO:003050910.0BMP2, HFE2, UBE2D1
6transferrin transportGO:00335729.9TF, TFRC
7immune responseGO:00069559.7HFE, HLA-H, MR1, HAMP
8transmembrane transportGO:00550859.3SLC11A2, SLC40A1, TFRC, TF
9cellular iron ion homeostasisGO:00068799.3SLC11A2, SLC40A1, HFE, TFR2, TFRC, TF

Molecular functions related to Hemochromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1transferrin receptor activityGO:000499810.1TFR2, TFRC
2peptide antigen bindingGO:00426059.6HFE, HLA-H, MR1

Products for genes affiliated with Hemochromatosis

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  • Antibodies
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Sources for Hemochromatosis

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet