MCID: HMC010
MIFTS: 42

Hemochromatosis, Type 3

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases

Aliases & Classifications for Hemochromatosis, Type 3

MalaCards integrated aliases for Hemochromatosis, Type 3:

Name: Hemochromatosis, Type 3 57 13 55 44 40 73
Hemochromatosis Type 3 12 76 53 59 29 6
Hemochromatosis Due to Defect in Transferrin Receptor 2 57 12 53 75
Hfe3 57 12 53 75
Tfr2-Related Hemochromatosis 12 59
Tfr2-Related Hereditary Hemochromatosis 53
Hemochromatosis 3 75

Characteristics:

Orphanet epidemiological data:

59
hemochromatosis type 3
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hemochromatosis, type 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 604250
Disease Ontology 12 DOID:0111030
ICD10 33 E83.1
Orphanet 59 ORPHA225123
MESH via Orphanet 45 C537248
UMLS via Orphanet 74 C1858664
ICD10 via Orphanet 34 E83.1
MedGen 42 C1858664
UMLS 73 C1858664

Summaries for Hemochromatosis, Type 3

NIH Rare Diseases : 53 Hemochromatosis type 3 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. Early symptoms of hemochromatosis type 3 can include fatigue, weakness, and joint pain. Other symptoms may include abdominal pain, loss of sex drive, liver disease, diabetes, heart problems, and skin discoloration. Symptoms of hemochromatosis type 3 typically begin before 30-years-old. Hemochromatosis type 3 is caused by genetic changes (mutations or pathogenic variants) to the TFR2 gene. The disease is inherited in an autosomal recessive manner. A diagnosis of hemochromatosis type 3 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 3 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 2 Hemochromatosis type 4 Hemochromatosis type 5 Neonatal hemochromatosis

MalaCards based summary : Hemochromatosis, Type 3, also known as hemochromatosis type 3, is related to hemochromatosis type 2 and hemochromatosis, type 1, and has symptoms including fatigue An important gene associated with Hemochromatosis, Type 3 is TFR2 (Transferrin Receptor 2). The drugs Iron and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and heart, and related phenotypes are arthritis and fatigue

UniProtKB/Swiss-Prot : 75 Hemochromatosis 3: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

Disease Ontology : 12 A hemochromatosis that has material basis in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22.

Wikipedia : 76 Haemochromatosis type 3 is a type of Iron overload disorder associated with deficiencies in transferrin... more...

Description from OMIM: 604250

Related Diseases for Hemochromatosis, Type 3

Graphical network of the top 20 diseases related to Hemochromatosis, Type 3:



Diseases related to Hemochromatosis, Type 3

Symptoms & Phenotypes for Hemochromatosis, Type 3

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
arthritis

Hematology:
anemia
lymphopenia
neutropenia
thrombocytopenic purpura

Cardiovascular Heart:
cardiomyopathy

GenitourinaryInternal GenitaliaMale:
impotence
decreased libido

Genitourinary Internal Genitalia Female:
amenorrhea

Endocrine Features:
diabetes

Neurologic Behavioral Psychiatric Manifestations:
fatigue

Abdomen Liver:
cirrhosis
fibrosis

Genitourinary External Genitalia Male:
hypogonadism

Laboratory Abnormalities:
increased serum ferritin
increased serum iron
increased transferrin saturation
increased liver transaminases

Skin Nails Hair Skin:
hyperpigmentation


Clinical features from OMIM:

604250

Human phenotypes related to Hemochromatosis, Type 3:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 arthritis 32 HP:0001369
2 fatigue 32 HP:0012378
3 anemia 32 HP:0001903
4 elevated hepatic transaminases 32 HP:0002910
5 cirrhosis 32 HP:0001394
6 cardiomyopathy 32 HP:0001638
7 hypogonadotrophic hypogonadism 32 HP:0000044
8 lymphopenia 32 HP:0001888
9 neutropenia 32 HP:0001875
10 impotence 32 HP:0000802
11 increased serum ferritin 32 HP:0003281
12 increased serum iron 32 HP:0003452
13 hyperpigmentation of the skin 32 HP:0000953
14 amenorrhea 32 HP:0000141

UMLS symptoms related to Hemochromatosis, Type 3:


fatigue

Drugs & Therapeutics for Hemochromatosis, Type 3

Drugs for Hemochromatosis, Type 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7439-89-6 23925
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3
Deferasirox Approved, Investigational Phase 4,Phase 1,Phase 2 201530-41-8 5493381
4
Deferoxamine Approved, Investigational Phase 4,Phase 3,Phase 2 70-51-9 2973
5
Deferiprone Approved Phase 4,Phase 3,Phase 2,Phase 1 30652-11-0 2972
6 Antacids Phase 4,Not Applicable
7 Anti-Ulcer Agents Phase 4,Not Applicable
8 Gastrointestinal Agents Phase 4,Not Applicable
9 Proton Pump Inhibitors Phase 4,Not Applicable
10 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Iron Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Liver Extracts Phase 4,Not Applicable
13
Ethanol Approved Phase 3 64-17-5 702
14
Hydroxyurea Approved Phase 3 127-07-1 3657
15 Pharmaceutical Solutions Phase 2, Phase 3
16 Nucleic Acid Synthesis Inhibitors Phase 3
17
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
18
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
19
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
20 Hepcidins Phase 2
21 Micronutrients Phase 2,Phase 1,Not Applicable
22 Trace Elements Phase 2,Phase 1,Not Applicable
23 Calcium, Dietary Phase 2,Phase 1
24 Antirheumatic Agents Phase 2
25 Interleukin 1 Receptor Antagonist Protein Phase 2
26 Anti-Infective Agents Phase 2
27 Bone Density Conservation Agents Phase 2
28 Ergocalciferols Phase 2
29 Vitamins Phase 2
30 Vaccines Phase 1, Phase 2
31 Calciferol Nutraceutical Phase 2
32 Vitamin D2 Nutraceutical Phase 2
33
Nifedipine Approved Phase 1 21829-25-4 4485
34 calcium channel blockers Phase 1
35 Tocolytic Agents Phase 1
36 Vasodilator Agents Phase 1
37
Pantoprazole Approved Not Applicable 102625-70-7 4679
38 Kava Approved, Investigational, Nutraceutical 9000-38-8
39 Trichostatin A
40 Hematinics
41
Bilirubin 635-65-4 5280352
42 Iron Supplement Nutraceutical Not Applicable

Interventional clinical trials:

(show top 50) (show all 58)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
2 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
3 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
4 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Hereditary Hemochromatosis (HH) Patients Unknown status NCT01398644 Phase 3
5 Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy Completed NCT00202436 Phase 3
6 Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis Completed NCT00440986 Phase 2, Phase 3
7 Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3 Deferiprone (L1);Desferrioxamine
8 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
9 Screening of Hepatocellular Carcinoma in Patients With Compensated Cirrhosis Completed NCT00190385 Phase 3
10 Stroke With Transfusions Changing to Hydroxyurea Terminated NCT00122980 Phase 3 Hydroxyurea
11 Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary Hemochromatosis Completed NCT00395629 Phase 1, Phase 2 Deferasirox (ICL670)
12 Study Using Deferiprone Alone or in Combination With Desferrioxamine in Iron Overloaded Transfusion-dependent Patients Completed NCT00349453 Phase 2 Deferiprone (L1);Deferiprone (L1);Desferrioxamine
13 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2 deferoxamine
14 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Recruiting NCT02263638 Phase 2 Anakinra
15 A Two-year Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis. Recruiting NCT03203850 Phase 2 Deferasirox FCT
16 A Study of LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis Recruiting NCT03395704 Phase 2 LJPC-401;Placebo
17 Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis. Recruiting NCT01949467 Phase 2 iron fumarate
18 The Deferasirox-calcium-vitamin D3 Therapy for Postmenopausal Osteoporosis (PMOP) Recruiting NCT02854722 Phase 2 Deferasirox and calcium-vitamin D3;Calcium-vitamin D3
19 Trial of Therapeutic Vaccine in Patients With Cholangiocarcinoma Recruiting NCT03042182 Phase 1, Phase 2
20 Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome Terminated NCT01892644 Phase 2 Deferasirox;Deferasirox
21 Oral Nifedipine to Treat Iron Overload Completed NCT00712738 Phase 1 Nifedipine
22 Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis Unknown status NCT01991925
23 Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis Unknown status NCT00509652 Not Applicable
24 Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis Unknown status NCT01524757 Not Applicable Pantoprazole
25 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Unknown status NCT00199628
26 Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis Completed NCT02099214 Not Applicable
27 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
28 Bone Status on Patients With Genetic Hemochromatosis: a 3 Years Descriptive and Evolutionary Study Completed NCT01556360
29 Respiratory Variations For Assessing Blood Withdrawal Completed NCT03066414
30 Deferoxamine for the Treatment of Hemochromatosis Completed NCT00001203
31 Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration Completed NCT00587535
32 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
33 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
34 Hemochromatosis and Iron Overload Screening Study (HEIRS) Completed NCT00005541
35 Mi-iron - Moderately Increased Iron - is Reducing Iron Overload Necessary? Completed NCT01631708 Not Applicable
36 Iron Overload in African Americans Completed NCT00001455
37 Impact of Host Iron Status and Iron Supplement Use on Erythrocytic Stage of Plasmodium Falciparum Completed NCT01027663 Not Applicable
38 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
39 High-Tc Susceptometer to Monitor Transfusional Iron Overload Completed NCT01241357
40 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
41 Massive Iron Deposit Assessment Completed NCT01572922 Not Applicable
42 Ischemia Modified Albumin (IMA) Expression in the Male and Female Population Completed NCT02894671
43 Iron Overload in Stem Cell Transplant Recipients Completed NCT00806715
44 Treatment of Hemochromatosis Recruiting NCT00007150
45 Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis Recruiting NCT01810965 Not Applicable
46 Transferrin Saturation and Asthenia in Hemochromatosis Recruiting NCT03356548
47 Effects of Polyphenols on Iron Absorption in Iron Overload Disorders. Recruiting NCT03453918 Not Applicable
48 Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron Content Recruiting NCT02025543
49 Long Term Follow-up of Integra® Cadence™ Total Ankle System in Primary Ankle Joint Replacement Recruiting NCT03247023
50 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care

Search NIH Clinical Center for Hemochromatosis, Type 3

Cochrane evidence based reviews: hemochromatosis, type 3

Genetic Tests for Hemochromatosis, Type 3

Genetic tests related to Hemochromatosis, Type 3:

# Genetic test Affiliating Genes
1 Hemochromatosis Type 3 29 TFR2

Anatomical Context for Hemochromatosis, Type 3

MalaCards organs/tissues related to Hemochromatosis, Type 3:

41
Liver, Skin, Heart, Testes, Pancreas, Bone

Publications for Hemochromatosis, Type 3

Articles related to Hemochromatosis, Type 3:

# Title Authors Year
1
Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene. ( 11984516 )
2002
2
New mutations inactivating transferrin 2 in hemochromatosis type 3. ( 11313241 )
2001

Variations for Hemochromatosis, Type 3

UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis, Type 3:

75
# Symbol AA change Variation ID SNP ID
1 TFR2 p.Met172Lys VAR_012738 rs80338879
2 TFR2 p.Val22Ile VAR_042515 rs80338876
3 TFR2 p.Gln690Pro VAR_042517 rs80338889

ClinVar genetic disease variations for Hemochromatosis, Type 3:

6
(show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 TFR2 NM_003227.3(TFR2): c.750C> G (p.Tyr250Ter) single nucleotide variant Pathogenic rs80338880 GRCh37 Chromosome 7, 100230723: 100230723
2 TFR2 NM_003227.3(TFR2): c.750C> G (p.Tyr250Ter) single nucleotide variant Pathogenic rs80338880 GRCh38 Chromosome 7, 100633100: 100633100
3 TFR2 NM_003227.3(TFR2): c.88_89insC (p.Arg30Profs) insertion Pathogenic rs80338877 GRCh37 Chromosome 7, 100238797: 100238797
4 TFR2 NM_003227.3(TFR2): c.88_89insC (p.Arg30Profs) insertion Pathogenic rs80338877 GRCh38 Chromosome 7, 100641174: 100641174
5 TFR2 NM_003227.3(TFR2): c.515T> A (p.Met172Lys) single nucleotide variant Pathogenic rs80338879 GRCh37 Chromosome 7, 100231138: 100231138
6 TFR2 NM_003227.3(TFR2): c.515T> A (p.Met172Lys) single nucleotide variant Pathogenic rs80338879 GRCh38 Chromosome 7, 100633515: 100633515
7 TFR2 NM_003227.3(TFR2): c.2069A> C (p.Gln690Pro) single nucleotide variant Pathogenic rs80338889 GRCh37 Chromosome 7, 100224453: 100224453
8 TFR2 NM_003227.3(TFR2): c.2069A> C (p.Gln690Pro) single nucleotide variant Pathogenic rs80338889 GRCh38 Chromosome 7, 100626830: 100626830
9 TFR2 NM_003227.3(TFR2): c.1186C> T (p.Arg396Ter) single nucleotide variant Pathogenic rs80338882 GRCh37 Chromosome 7, 100228596: 100228596
10 TFR2 NM_003227.3(TFR2): c.1186C> T (p.Arg396Ter) single nucleotide variant Pathogenic rs80338882 GRCh38 Chromosome 7, 100630973: 100630973
11 TFR2 NM_003227.3(TFR2): c.1231_1233delAAC (p.Asn412del) deletion Pathogenic rs80338883 GRCh37 Chromosome 7, 100228549: 100228551
12 TFR2 NM_003227.3(TFR2): c.1231_1233delAAC (p.Asn412del) deletion Pathogenic rs80338883 GRCh38 Chromosome 7, 100630926: 100630928
13 TFR2 NM_003227.3(TFR2): c.1330G> A (p.Ala444Thr) single nucleotide variant Pathogenic rs80338884 GRCh37 Chromosome 7, 100226936: 100226936
14 TFR2 NM_003227.3(TFR2): c.1330G> A (p.Ala444Thr) single nucleotide variant Pathogenic rs80338884 GRCh38 Chromosome 7, 100629313: 100629313
15 TFR2 NM_003227.3(TFR2): c.1469T> G (p.Leu490Arg) single nucleotide variant Pathogenic rs80338886 GRCh37 Chromosome 7, 100225851: 100225851
16 TFR2 NM_003227.3(TFR2): c.1469T> G (p.Leu490Arg) single nucleotide variant Pathogenic rs80338886 GRCh38 Chromosome 7, 100628228: 100628228
17 TFR2 NM_003227.3(TFR2): c.1665delC (p.Ser556Alafs) deletion Pathogenic rs80338887 GRCh37 Chromosome 7, 100225384: 100225384
18 TFR2 NM_003227.3(TFR2): c.1665delC (p.Ser556Alafs) deletion Pathogenic rs80338887 GRCh38 Chromosome 7, 100627761: 100627761
19 TFR2 NM_003227.3(TFR2): c.1861_1872delGCCGTGGCCCAG (p.Ala621_Gln624del) deletion Pathogenic rs80338888 GRCh37 Chromosome 7, 100225010: 100225021
20 TFR2 NM_003227.3(TFR2): c.1861_1872delGCCGTGGCCCAG (p.Ala621_Gln624del) deletion Pathogenic rs80338888 GRCh38 Chromosome 7, 100627387: 100627398
21 TFR2 NM_003227.3(TFR2): c.2137-1G> A single nucleotide variant Pathogenic rs80338890 GRCh37 Chromosome 7, 100218750: 100218750
22 TFR2 NM_003227.3(TFR2): c.2137-1G> A single nucleotide variant Pathogenic rs80338890 GRCh38 Chromosome 7, 100621127: 100621127
23 TFR2 NM_003227.3(TFR2): c.2374G> A (p.Gly792Arg) single nucleotide variant Likely pathogenic rs80338891 GRCh37 Chromosome 7, 100218512: 100218512
24 TFR2 NM_003227.3(TFR2): c.2374G> A (p.Gly792Arg) single nucleotide variant Likely pathogenic rs80338891 GRCh38 Chromosome 7, 100620889: 100620889
25 TFR2 NM_003227.3(TFR2): c.313C> T (p.Arg105Ter) single nucleotide variant Pathogenic rs80338878 GRCh37 Chromosome 7, 100238469: 100238469
26 TFR2 NM_003227.3(TFR2): c.313C> T (p.Arg105Ter) single nucleotide variant Pathogenic rs80338878 GRCh38 Chromosome 7, 100640846: 100640846
27 TFR2 NM_003227.3(TFR2): c.64G> A (p.Val22Ile) single nucleotide variant Pathogenic rs80338876 GRCh37 Chromosome 7, 100238821: 100238821
28 TFR2 NM_003227.3(TFR2): c.64G> A (p.Val22Ile) single nucleotide variant Pathogenic rs80338876 GRCh38 Chromosome 7, 100641198: 100641198
29 TFR2 NM_003227.3(TFR2): c.949C> T (p.Gln317Ter) single nucleotide variant Pathogenic rs80338881 GRCh37 Chromosome 7, 100229722: 100229722
30 TFR2 NM_003227.3(TFR2): c.949C> T (p.Gln317Ter) single nucleotide variant Pathogenic rs80338881 GRCh38 Chromosome 7, 100632099: 100632099

Expression for Hemochromatosis, Type 3

Search GEO for disease gene expression data for Hemochromatosis, Type 3.

Pathways for Hemochromatosis, Type 3

GO Terms for Hemochromatosis, Type 3

Cellular components related to Hemochromatosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.16 HFE TFR2
2 external side of plasma membrane GO:0009897 8.96 HFE TFR2
3 HFE-transferrin receptor complex GO:1990712 8.62 HFE TFR2

Biological processes related to Hemochromatosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.4 HFE TFR2
2 iron ion homeostasis GO:0055072 9.37 HFE TFR2
3 acute-phase response GO:0006953 9.32 HFE TFR2
4 transferrin transport GO:0033572 9.26 HFE TFR2
5 response to iron ion GO:0010039 9.16 HFE TFR2
6 positive regulation of peptide hormone secretion GO:0090277 8.96 HFE TFR2
7 cellular response to iron ion GO:0071281 8.62 HFE TFR2

Molecular functions related to Hemochromatosis, Type 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 co-receptor binding GO:0039706 8.62 HFE TFR2

Sources for Hemochromatosis, Type 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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