JHH
MCID: HMC009
MIFTS: 51

Hemochromatosis Type 2 (JHH)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hemochromatosis Type 2

MalaCards integrated aliases for Hemochromatosis Type 2:

Name: Hemochromatosis Type 2 12 74 52 58 6 15
Juvenile Hemochromatosis 12 52 58 71
Juvenile Hereditary Hemochromatosis 52
Iron Overload Disease Juvenile 52
Hemochromatosis Juvenile 52
Hemochromatosis, Type 2 43
Hfe2 12
Jhh 12

Characteristics:

Orphanet epidemiological data:

58
hemochromatosis type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: young Adult;

Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111034
MeSH 43 C537247
ICD10 32 E83.1
MESH via Orphanet 44 C537247
ICD10 via Orphanet 33 E83.1
UMLS via Orphanet 72 C0268060
Orphanet 58 ORPHA79230
UMLS 71 C0268060

Summaries for Hemochromatosis Type 2

NIH Rare Diseases : 52 Hemochromatosis type 2 is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart , and pancreas . Symptoms of hemochromatosis type 2 typically begin during childhood. Early symptoms of hemochromatosis type 2 typically include liver disease , heart disease , and low levels of sex hormones . Having low levels of sex hormones can cause women to stop having their monthly periods and men to have delayed puberty. People with hemochromatosis type 2 may have heart disease by age 30. Other symptoms may include abdominal pain, diabetes , and skin discoloration. Hemochromatosis type 2 is caused by genetic changes (mutations or pathogenic variants) to the HFE2 (HJV) or HAMP genes . The disease is inherited in an autosomal recessive manner. A diagnosis of hemochromatosis type 2 is suspected when a doctor observes signs and symptoms of the disease. A doctor may decide to order laboratory tests including a liver biopsy , MRI , or blood test . The diagnosis can be confirmed with genetic testing . Treatment of hemochromatosis type 2 usually involves reducing iron levels by removing blood (phlebotomy ) or iron chelation . These treatments can prevent additional organ damage but typically do not reverse existing damage. To learn more about other types of hemochromatosis click on the disease names below: Hemochromatosis type 1 Hemochromatosis type 3 Hemochromatosis type 4 Hemochromatosis type 5 Neonatal hemochromatosis

MalaCards based summary : Hemochromatosis Type 2, also known as juvenile hemochromatosis, is related to hemochromatosis, type 2a and juvenile hereditary hemochromatosis. An important gene associated with Hemochromatosis Type 2 is HJV (Hemojuvelin BMP Co-Receptor), and among its related pathways/superpathways are TGF-beta signaling pathway (KEGG) and Netrin-1 signaling. The drugs Iron and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and heart, and related phenotypes are congenital hepatic fibrosis and increased serum ferritin

Disease Ontology : 12 A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.

Wikipedia : 74 Juvenile hemochromatosis is, as its name indicates, a form of hemochromatosis which emerges during... more...

Related Diseases for Hemochromatosis Type 2

Diseases in the Rare Hereditary Hemochromatosis family:

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

Diseases related to Hemochromatosis Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 2a 33.3 TFR2 SLC40A1 HJV HFE HAMP
2 juvenile hereditary hemochromatosis 32.7 HJV HAMP
3 hemochromatosis, type 5 32.4 TFR2 HJV HFE BMP6
4 hemochromatosis, type 3 32.0 TMPRSS6 TFRC TFR2 SLC40A1 HJV HFE
5 hemochromatosis, type 4 32.0 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
6 hemochromatosis, type 1 31.3 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 NEO1
7 hemosiderosis 30.7 TFRC TFR2 SLC40A1 SLC11A2 HJV HFE
8 congenital dyserythropoietic anemia 30.6 TFRC HFE HAMP
9 thalassemia 30.0 TMPRSS6 TFRC TFR2 SLC40A1 HJV HFE
10 siderosis 30.0 TFRC TFR2 SLC40A1 HJV HFE HAMP
11 iron metabolism disease 30.0 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
12 beta-thalassemia 29.9 TMPRSS6 TFRC TFR2 HJV HFE HAMP
13 arthropathy 29.8 HJV HFE HAMP
14 hemochromatosis, neonatal 11.3
15 hemochromatosis, type 2b 11.3
16 rare hereditary hemochromatosis 10.5
17 transferrin serum level quantitative trait locus 2 10.4 LOC108783645 HFE
18 microvascular complications of diabetes 7 10.4 LOC108783645 HFE
19 iron-refractory iron deficiency anemia 10.3 TMPRSS6 HJV
20 familial porphyria cutanea tarda 10.3 LOC108783645 HFE
21 inherited metabolic disorder 10.3 TFR2 HJV HFE HAMP
22 hypochromic microcytic anemia 10.2 TMPRSS6 SLC11A2 HJV HAMP
23 hypogonadism 10.2
24 hypogonadotropism 10.2
25 iron overload in africa 10.2 TMPRSS6 TFR2 SLC40A1 HJV HFE HAMP
26 hemoglobinopathy 10.2 TFRC TFR2 HJV HFE HAMP
27 liver cirrhosis 10.2
28 porphyria cutanea tarda 10.1 TFRC TFR2 SLC40A1 HJV HFE HAMP
29 porphyria 10.1 TFRC TFR2 SLC40A1 HJV HFE HAMP
30 sideroblastic anemia 10.1 TFRC TFR2 SLC40A1 HJV HFE HAMP
31 nutritional deficiency disease 10.1 TMPRSS6 TFRC SLC11A2 HJV HAMP
32 dowling-degos disease 1 10.1
33 amenorrhea 10.1
34 congestive heart failure 10.1
35 friedreich ataxia 10.1 TFRC SLC40A1 SLC11A2 HFE HAMP
36 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.1
37 osteoporosis 10.1
38 bone mineral density quantitative trait locus 8 10.1
39 bone mineral density quantitative trait locus 15 10.1
40 autosomal recessive disease 10.1
41 bone resorption disease 10.1
42 hypogonadotropic hypogonadism 10.1
43 keratomalacia 10.1
44 impotence 10.1
45 tfr2-related hereditary hemochromatosis 10.1
46 anemia, sideroblastic, 1 10.1 TFRC TFR2 SLC40A1 SLC11A2 HJV HAMP
47 microcytic anemia 10.1 TMPRSS6 TFRC SLC40A1 SLC11A2 HJV HAMP
48 neurodegeneration with brain iron accumulation 10.0 TFRC TFR2 SLC40A1 SLC11A2 HFE HAMP
49 wilson disease 10.0 TFRC SLC11A2 HFE
50 atrial standstill 1 10.0

Graphical network of the top 20 diseases related to Hemochromatosis Type 2:



Diseases related to Hemochromatosis Type 2

Symptoms & Phenotypes for Hemochromatosis Type 2

Human phenotypes related to Hemochromatosis Type 2:

58 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
2 increased serum ferritin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003281
3 elevated transferrin saturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0012463
4 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
5 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
6 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
7 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
8 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
9 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
10 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
11 impotence 58 31 frequent (33%) Frequent (79-30%) HP:0000802
12 arthropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003040
13 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
14 abnormality of endocrine pancreas physiology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012093
15 abnormality of iron homeostasis 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hemochromatosis Type 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 10 ANTXR2 CLIC4 FCN1 HFE HJV JCHAIN
2 integument MP:0010771 9.76 CLIC4 HJV JCHAIN NEO1 SLC11A2 SLC40A1
3 liver/biliary system MP:0005370 9.56 HFE HJV JCHAIN SLC11A2 SLC40A1 TFR2
4 mortality/aging MP:0010768 9.47 ANTXR2 CLIC4 FCN1 HFE HJV JCHAIN

Drugs & Therapeutics for Hemochromatosis Type 2

Drugs for Hemochromatosis Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Early Phase 1 7439-89-6, 15438-31-0 23925 27284
2
Ergocalciferol Approved, Nutraceutical Early Phase 1 50-14-6 5280793
3
Vitamin D Approved, Nutraceutical, Vet_approved Early Phase 1 1406-16-2
4
Calcitriol Approved, Nutraceutical Early Phase 1 32222-06-3 134070 5280453
5
Calcium Approved, Nutraceutical Early Phase 1 7440-70-2 271
6 Trace Elements Early Phase 1
7 Vitamins Early Phase 1
8 Ergocalciferols Early Phase 1
9 Nutrients Early Phase 1
10 Anti-Infective Agents Early Phase 1
11 Vasoconstrictor Agents Early Phase 1
12 Hepcidins Early Phase 1
13 Hormones Early Phase 1
14 Calcium, Dietary Early Phase 1
15 Calciferol Early Phase 1
16 Micronutrients Early Phase 1
17 Vitamin D2 Early Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Vitamin D Replacement in Chronic Kidney Disease and Its Effects on Iron Homeostasis, Serum Hepcidin, and Hemojuvelin Levels. Completed NCT01988116 Early Phase 1 Oral Calcitriol 0.5 mcg once daily for 6 weeks;Placebo

Search NIH Clinical Center for Hemochromatosis Type 2

Cochrane evidence based reviews: hemochromatosis, type 2

Genetic Tests for Hemochromatosis Type 2

Anatomical Context for Hemochromatosis Type 2

MalaCards organs/tissues related to Hemochromatosis Type 2:

40
Liver, Pancreas, Heart, Testes, Skin, Kidney, Bone

Publications for Hemochromatosis Type 2

Articles related to Hemochromatosis Type 2:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. 61 6
19796184 2009
2
HJV gene mutations in European patients with juvenile hemochromatosis. 61 6
15811010 2005
3
Juvenile Hereditary Hemochromatosis 6 61
20301349 2005
4
Identification of a novel mutation (C321X) in HJV. 61 6
15138164 2004
5
Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene. 6 61
15198949 2004
6
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. 61 6
14982873 2004
7
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. 6 61
14647275 2004
8
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. 6 61
12891378 2003
9
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. 61 6
12469120 2003
10
Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. 6 61
12482411 2002
11
Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent. 6
18492090 2008
12
Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. 6
15461631 2004
13
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. 6
15254010 2004
14
Clinicopathological diagnosis and treatment of juvenile hemochromatosis. 61
31809314 2019
15
A rare case of juvenile hemochromatosis with mixed causes of hyperferritinemia. 61
31814263 2019
16
Identification of heterozygous p.Y150C and p.V274M mutations in the HJV gene in a Japanese patient with a mild phenotype of juvenile hemochromatosis: A case report. 61
31472034 2019
17
Variation in the repulsive guidance molecule family in human populations. 61
30746893 2019
18
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis? 61
30389309 2019
19
Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy. 61
30583831 2019
20
Hepcidin-mediated hypoferremic response to acute inflammation requires a threshold of Bmp6/Hjv/Smad signaling. 61
30213871 2018
21
An unexpected cause of liver cirrhosis and cardiomyopathy in a young man. 61
29199911 2018
22
Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report. 61
29373985 2018
23
Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox. 61
29085829 2017
24
Iron Overload in the Liver of 2 Children: Nonalcoholic Steatohepatitis and Juvenile Hemochromatosis. 61
28067690 2017
25
Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene. 61
28363629 2017
26
RGMs: Structural Insights, Molecular Regulation, and Downstream Signaling. 61
28007423 2017
27
Juvenile Hemochromatosis in Iran: A Case Report with 5-Year Follow-up after Treatment. 61
27252822 2016
28
Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis. 61
27046124 2016
29
HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients. 61
27007796 2016
30
Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype. 61
26408288 2015
31
Deficits of learning and memory in Hemojuvelin knockout mice. 61
26027705 2015
32
Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis. 61
26142323 2015
33
SLC39A14 Is Required for the Development of Hepatocellular Iron Overload in Murine Models of Hereditary Hemochromatosis. 61
26028554 2015
34
Repulsive guidance molecule is a structural bridge between neogenin and bone morphogenetic protein. 61
25938661 2015
35
Expression of human Hemojuvelin (HJV) is tightly regulated by two upstream open reading frames in HJV mRNA that respond to iron overload in hepatic cells. 61
25666510 2015
36
Functional analysis of matriptase-2 mutations and domains: insights into the molecular basis of iron-refractory iron deficiency anemia. 61
25588876 2015
37
A high-fat diet modulates iron metabolism but does not promote liver fibrosis in hemochromatotic Hjv⁻/⁻ mice. 61
25501544 2015
38
Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors. 61
25152992 2014
39
Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE). 61
25064704 2014
40
Dietary iron supplements and Moringa oleifera leaves influence the liver hepcidin messenger RNA expression and biochemical indices of iron status in rats. 61
25150122 2014
41
Deletion of hemojuvelin, an iron-regulatory protein, in mice results in abnormal angiogenesis and vasculogenesis in retina along with reactive gliosis. 61
24812553 2014
42
Non-HFE hemochromatosis: pathophysiological and diagnostic aspects. 61
24321703 2014
43
Juvenile Hemochromatosis, Genetic Study and Long-term Follow up after Therapy. 61
24872867 2014
44
A late presentation of a fatal disease: juvenile hemochromatosis. 61
24106505 2013
45
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis. 61
22297252 2012
46
Approach to the male patient with congenital hypogonadotropic hypogonadism. 61
22392951 2012
47
Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice. 61
21993681 2012
48
Molecular diagnostic and pathogenesis of hereditary hemochromatosis. 61
22408404 2012
49
Conditional disruption of mouse HFE2 gene: maintenance of systemic iron homeostasis requires hepatic but not skeletal muscle hemojuvelin. 61
21748766 2011
50
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients. 61
21411349 2011

Variations for Hemochromatosis Type 2

ClinVar genetic disease variations for Hemochromatosis Type 2:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HFE NM_000410.3(HFE):c.187C>G (p.His63Asp)SNV Pathogenic 10 rs1799945 6:26091179-26091179 6:26090951-26090951
2 HJV NM_213653.3(HJV):c.950G>A (p.Cys317Tyr)SNV Likely pathogenic 694655 1:145416605-145416605 1:146018408-146018408
3 HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)SNV Conflicting interpretations of pathogenicity, other 9 rs1800562 6:26093141-26093141 6:26092913-26092913

Expression for Hemochromatosis Type 2

Search GEO for disease gene expression data for Hemochromatosis Type 2.

Pathways for Hemochromatosis Type 2

GO Terms for Hemochromatosis Type 2

Cellular components related to Hemochromatosis Type 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.33 TMPRSS6 TFRC TFR2 SMDT1 SLC40A1 SLC11A2
2 plasma membrane GO:0005886 10.13 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 RGMB
3 cytoplasmic vesicle GO:0031410 9.92 TFRC TFR2 SLC11A2 HFE CLIC4
4 external side of plasma membrane GO:0009897 9.81 TFRC TFR2 HFE ANTXR2
5 cell surface GO:0009986 9.73 TFRC SLC11A2 RGMA HJV CLIC4 ANTXR2
6 anchored component of membrane GO:0031225 9.67 RGMB RGMA HJV
7 recycling endosome GO:0055037 9.65 TFRC SLC11A2 HFE
8 cell GO:0005623 9.65 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
9 apical part of cell GO:0045177 9.58 SLC11A2 HFE CLIC4
10 basal part of cell GO:0045178 9.43 SLC11A2 HFE
11 plasma membrane protein complex GO:0098797 9.37 NEO1 HJV
12 uniplex complex GO:1990246 9.16 SMDT1 MICU1
13 HFE-transferrin receptor complex GO:1990712 8.92 TFRC TFR2 HJV HFE

Biological processes related to Hemochromatosis Type 2 according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.05 TMPRSS6 TFR2 SLC40A1 RGMA HJV BMP6
2 ion transport GO:0006811 9.97 SMDT1 SLC40A1 SLC11A2 MICU1 HFE CLIC4
3 BMP signaling pathway GO:0030509 9.77 RGMB RGMA HJV HFE BMP6
4 acute-phase response GO:0006953 9.65 TFR2 HFE HAMP
5 response to iron ion GO:0010039 9.65 TFR2 SLC11A2 HFE HAMP BMP6
6 transferrin transport GO:0033572 9.63 TFRC TFR2 HFE
7 iron ion transport GO:0006826 9.62 TFRC TFR2 SLC40A1 SLC11A2
8 cellular response to iron ion GO:0071281 9.58 TFR2 HFE BMP6
9 mitochondrial calcium ion transmembrane transport GO:0006851 9.57 SMDT1 MICU1
10 mitochondrial calcium ion homeostasis GO:0051560 9.56 SMDT1 MICU1
11 calcium import into the mitochondrion GO:0036444 9.55 SMDT1 MICU1
12 multicellular organismal iron ion homeostasis GO:0060586 9.55 SLC40A1 SLC11A2 HFE HAMP BMP6
13 positive regulation of peptide hormone secretion GO:0090277 9.54 TFR2 HFE
14 iron ion transmembrane transport GO:0034755 9.52 SLC40A1 SLC11A2
15 negative regulation of receptor binding GO:1900121 9.51 RGMA HFE
16 iron ion homeostasis GO:0055072 9.5 TMPRSS6 TFR2 SLC40A1 SLC11A2 NEO1 HJV
17 response to iron ion starvation GO:1990641 9.43 HFE HAMP
18 cellular iron ion homeostasis GO:0006879 9.28 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV

Molecular functions related to Hemochromatosis Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 9.5 RGMB RGMA HJV
2 iron ion transmembrane transporter activity GO:0005381 9.4 SLC40A1 SLC11A2
3 ferrous iron transmembrane transporter activity GO:0015093 9.37 SLC40A1 SLC11A2
4 transferrin transmembrane transporter activity GO:0033570 9.26 TFRC TFR2
5 transferrin receptor activity GO:0004998 9.16 TFRC TFR2
6 co-receptor binding GO:0039706 9.13 TFR2 NEO1 HFE
7 transferrin receptor binding GO:1990459 8.8 RGMA HJV HFE

Sources for Hemochromatosis Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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