HBH
MCID: HMG032
MIFTS: 51

Hemoglobin H Disease (HBH)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Hemoglobin H Disease

MalaCards integrated aliases for Hemoglobin H Disease:

Name: Hemoglobin H Disease 57 12 58 72 29 15 39 70
Hemoglobin H Disease, Nondeletional 57 29 13 6
Hbh 57 12 72
Hemoglobin H Disease, Deletional 57 12
Alpha-Thalassemia Intermedia 12 58
Hemoglobin H Disease, Deletional and Nondeletional 57
Alpha Thalassemia, Haemoglobin H Type 12
Alpha-Thalassemia, Hemoglobin H Type 57
Alpha Thalassemia, Hemoglobin H Type 12
Alpha-Thalassemia Hemoglobin H Type 72
Hemoglobin H Disease Non-Deletional 72
Haemoglobin H Disease, Deletional 12
Hemoglobin H Disease Deletional 72
Haemoglobin H Disease 12
Alpha-Thalassemia 70
Hbh Disease 58

Characteristics:

Orphanet epidemiological data:

58
hemoglobin h disease
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (United States); Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare endocrine diseases
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0110031
OMIM® 57 613978
MeSH 44 D017085
ICD10 32 D56.0
ICD10 via Orphanet 33 D56.0
UMLS via Orphanet 71 C0002312 C1260396 C3161174
Orphanet 58 ORPHA93616
UMLS 70 C0002312 C3161174

Summaries for Hemoglobin H Disease

OMIM® : 57 Hemoglobin H disease is a subtype of alpha-thalassemia (see 604131) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003). Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011). While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see 236750. (613978) (Updated 20-May-2021)

MalaCards based summary : Hemoglobin H Disease, also known as hemoglobin h disease, nondeletional, is related to thalassemia and splenomegaly. An important gene associated with Hemoglobin H Disease is HBA2 (Hemoglobin Subunit Alpha 2), and among its related pathways/superpathways are HIF-1 signaling pathway and Factors involved in megakaryocyte development and platelet production. The drugs Iron and Deferasirox have been mentioned in the context of this disorder. Affiliated tissues include myeloid, bone marrow and liver, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 An alpha thalassemia that has material basis in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.

UniProtKB/Swiss-Prot : 72 Hemoglobin H disease: A form of alpha-thalassemia due to the loss of three alpha genes. This results in high levels of a tetramer of four beta chains (hemoglobin H), causing a severe and life-threatening anemia. Untreated, most patients die in childhood or early adolescence.

Wikipedia : 73 Hemoglobin H disease is a type of alpha thalassemia caused by impaired production of three of the four... more...

Related Diseases for Hemoglobin H Disease

Diseases in the Hemoglobin H Disease family:

Hemoglobin C Disease Hemoglobin D Disease
Hemoglobin E Disease Hemoglobin Se Disease

Diseases related to Hemoglobin H Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 112)
# Related Disease Score Top Affiliating Genes
1 thalassemia 31.4 LOC106804613 LOC106804612 HBD HBB HBA2 HBA1
2 splenomegaly 31.0 LOC106804612 HBA2 HBA1 EPO
3 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 30.9 HBA2 HBA1
4 hypochromic microcytic anemia 30.9 TFRC TF HBB HBA2 HBA1
5 hemochromatosis, type 1 30.8 TFRC TF HBB EPO
6 histiocytosis-lymphadenopathy plus syndrome 30.7 HBQ1 HBB HBA2
7 hemolytic anemia 30.7 TFRC TF HBG2 HBB HBA2 HBA1
8 microcytic anemia 30.7 TFRC TF HBA2 HBA1 G6PD EPO
9 acute erythroid leukemia 30.6 HBB EPO
10 iron metabolism disease 30.6 TFRC TF HBB G6PD EPO
11 hemoglobin e disease 30.6 SCN2A HBQ1 HBE1 HBD HBB
12 glucosephosphate dehydrogenase deficiency 30.6 HBG2 HBE1 HBB G6PD
13 beta-thalassemia 30.5 TFRC TF HBG2 HBE1 HBD HBB
14 glutathione peroxidase deficiency 30.4 HBB HBA2 HBA1
15 thalassemia minor 30.4 HBD HBB HBA2 EPO
16 sickle cell anemia 30.4 HBG2 HBB HBA2 HBA1 G6PD EPO
17 methemoglobinemia 30.3 HBG2 HBB HBA2 HBA1 G6PD
18 hereditary elliptocytosis 30.3 HBQ1 HBE1 HBB G6PD
19 deficiency anemia 30.3 TFRC TF LOC106804612 HBG2 HBE1 HBB
20 iron deficiency anemia 30.2 TFRC TF HBG2 HBA1 G6PD EPO
21 hereditary spherocytosis 30.1 TFRC NPRL3 HBG2 HBE1 HBB G6PD
22 bilirubin metabolic disorder 30.1 HBG2 G6PD EPO
23 alpha-thalassemia 30.1 TSEN34 TSEN15 TFRC SCN2A NPRL3 LOC106804613
24 hemoglobinopathy 29.8 TFRC TF SCN2A NPRL3 LOC106804613 HBZ
25 alpha-thalassemia myelodysplasia syndrome 11.6
26 hemoglobin lepore-beta-thalassemia syndrome 10.5 HBD HBB
27 hemosiderosis 10.5
28 hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 10.4 HBG2 HBB
29 middle lobe syndrome 10.4 HBD HBB
30 hemoglobin zurich 10.4 LOC106804612 HBB HBA2
31 methemoglobinemia, beta-globin type 10.4 HBB HBA2 HBA1
32 rare hereditary hemochromatosis 10.4
33 acquired methemoglobinemia 10.4 HBG2 G6PD
34 immune hydrops fetalis 10.4 HBA2 HBA1
35 folic acid deficiency anemia 10.4 TFRC EPO
36 lumbosacral lipoma 10.4 G6PD EPO
37 hypoglycemic coma 10.4 HBA2 HBA1
38 type 1 diabetes mellitus 24 10.4 HBA2 HBA1
39 rh isoimmunization 10.4 G6PD EPO
40 fetal hemoglobin quantitative trait locus 1 10.4 HBG2 HBD HBB
41 erythrocytosis, familial, 7 10.4 LOC106804613 LOC106804612 HBA2 HBA1
42 splenic sequestration 10.4 SCN2A HBB EPO
43 spherocytosis, type 4 10.4 HBG2 HBE1 HBB
44 alpha thalassemia-intellectual disability syndrome type 1 10.4 HBQ1 HBA2 HBA1 ATRX
45 siderosis 10.4 TFRC TF HBB
46 congenital methemoglobinemia 10.4 HBG2 G6PD
47 neonatal anemia 10.3 HBA2 EPO
48 parasitic protozoa infectious disease 10.3 TFRC HBB G6PD
49 polycythemia 10.3 TFRC HBB HBA2 EPO
50 splenic infarction 10.3 HBE1 HBB

Graphical network of the top 20 diseases related to Hemoglobin H Disease:



Diseases related to Hemoglobin H Disease

Symptoms & Phenotypes for Hemoglobin H Disease

Human phenotypes related to Hemoglobin H Disease:

31
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 hemolytic anemia 31 HP:0001878
4 hbh hemoglobin 31 HP:0011903
5 reduced alpha/beta synthesis ratio 31 HP:0011907

Clinical features from OMIM®:

613978 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Hemoglobin H Disease according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 EPO G6PD HBD HBG2

Drugs & Therapeutics for Hemoglobin H Disease

Drugs for Hemoglobin H Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2 7439-89-6 23925 29936
2
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381 214348
3 Chelating Agents Phase 2
4 Iron Chelating Agents Phase 2
5 Liver Extracts Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study Evaluating the Efficacy and Safety of Mitapivat in Subjects With Transfusion-Dependent Alpha- or Beta-Thalassemia (ENERGIZE-T) Not yet recruiting NCT04770779 Phase 3 Placebo Matching Mitapivat;Mitapivat
2 A Phase 3, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study Evaluating the Efficacy and Safety of Mitapivat in Subjects With Non-Transfusion Dependent Alpha- or Beta-Thalassemia (ENERGIZE) Not yet recruiting NCT04770753 Phase 3 Placebo Matching Mitapivat;Mitapivat
3 A Randomized, Double-blind, Placebo-controlled, Phase II Study to Evaluate Efficacy and Safety of Deferasirox in Non-transfusion-dependent Thalassemia Patients With Iron Overload Completed NCT00873041 Phase 2 deferasirox;placebo
4 Phase I/II Pilot Study of Mixed Chimerism to Treat Hemoglobinopathies Suspended NCT01419704 Phase 1, Phase 2
5 A Single-Center, Non-Randomized Study of the Safety and Efficacy of In Utero Hematopoietic Stem Cell Transplantation for the Treatment of Fetuses With Alpha Thalassemia Major Recruiting NCT02986698 Phase 1
6 Haplotype Analysis of Alpha Globin Genes in Israeli Ethnic Groups Completed NCT00159029
7 Demographic, Clinical and Laboratory Characteristics of Children With Alpha Thalassemia in Northern Israel Completed NCT00971984
8 Screening for Alpha Globin Deletions Recruiting NCT02692872
9 Collection of Human Biospecimens for Basic and Clinical Research Into Alpha Globin Variants Recruiting NCT03937817

Search NIH Clinical Center for Hemoglobin H Disease

Genetic Tests for Hemoglobin H Disease

Genetic tests related to Hemoglobin H Disease:

# Genetic test Affiliating Genes
1 Hemoglobin H Disease 29 HBA1 HBA2
2 Hemoglobin H Disease, Nondeletional 29

Anatomical Context for Hemoglobin H Disease

MalaCards organs/tissues related to Hemoglobin H Disease:

40
Myeloid, Bone Marrow, Liver, Bone

Publications for Hemoglobin H Disease

Articles related to Hemoglobin H Disease:

(show top 50) (show all 278)
# Title Authors PMID Year
1
Heterogeneity of hemoglobin h disease in childhood. 61 57
21612484 2011
2
Heterogeneity of hemoglobin H disease in childhood. 57 61
21345100 2011
3
Hemoglobin H disease: not necessarily a benign disorder. 61 57
12393486 2003
4
Identification of a novel termination codon mutation (TAA-->TAT, Term-->Tyr) in the alpha 2 globin gene of a Laotian girl with hemoglobin H disease. 61 6
8193381 1994
5
An alpha-globin gene initiation codon mutation in a black family with HbH disease. 6 61
3620699 1987
6
A new genetic basis for hemoglobin-H disease. 57 61
6253786 1980
7
Hemoglobin H disease. A family study. 57 61
5923604 1966
8
The inherited diseases of hemoglobin are an emerging global health burden. 57
20233970 2010
9
Global epidemiology of haemoglobin disorders and derived service indicators. 57
18568278 2008
10
A rare association of alphaO-thalassemia (--SEA) and an initiation codon mutation (ATG-->A-G) of the alpha2 gene causes Hb H disease in Thailand. 6
16116675 2005
11
A novel splice acceptor site mutation of the alpha2-globin gene causing alpha-thalassemia. 6
11570724 2001
12
Hb Sallanches [alpha104(G11)Cys-->Tyr]: a rare alpha2-globin chain variant found in the homozygous state in three members of a Pakistani family. 6
10722113 2000
13
Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing alpha-thalassemia. 6
10569720 1999
14
An alpha-thalassemic hemoglobinopathy: homozygosity for the HB Agrinio alpha 2-globin chain variant. 6
9629496 1998
15
Novel mutation of the alpha 2-globin gene initiation codon (ATG-->A-G) in a Vietnamese girl with Hb H disease. 6
9322079 1997
16
The interaction of alpha zero thalassaemia with Hb Icaria: three unusual cases of haemoglobinopathy H. 6
8602995 1996
17
A new alpha chain variant Hb Sallanches [alpha 2 104(G11) Cys-->Tyr] associated with HbH disease in one homozygous patient. 6
8555062 1995
18
Hb H disease in a Turkish family resulting from the interaction of a deletional alpha-thalassaemia-1 and a newly discovered poly A mutation. 6
1581238 1992
19
The nondeletional types of Hb H disease in Guangxi. 6
1634361 1992
20
Hb Icaria-Hb H disease: identification of the Hb Icaria mutation through analysis of amplified DNA. 6
2372512 1990
21
The distribution of the Hb constant spring gene in Southeast Asian populations. 6
2298455 1990
22
Hemoglobin constant spring defined by specific oligonucleotide hybridization and hemoglobin D Punjab (beta 121----Gln) in a Batak Indonesian family. 6
3177365 1988
23
Non-deletion haemoglobin H disease in Papua New Guinea. 57
2892939 1987
24
Haemoglobin Icaria, a new chain-termination mutant with causes alpha thalassaemia. 6
4422784 1974
25
The origin of the genetic material in the abnormally long human hemoglobin and chains. 6
4623704 1972
26
Haemoglobin Constant Spring--a chain termination mutant? 6
4944483 1971
27
Genetics of haemoglobin H and alpha-thalassaemia. 57
5579409 1971
28
Inheritance of haemoglobin H disease. A new aspect. 57
4331171 1971
29
The genetical interpretation of haemoglobin H disease. 57
5489873 1970
30
Further evidence for a genetic basis of haemoglobin H disease from newborn offspring of patients. 57
5792424 1969
31
New hemoglobin possessing a higher electrophoretic mobility than normal adult hemoglobin. 57
13237998 1955
32
Telomere shortening correlates with disease severity in hemoglobin H disease patients. 61
33798832 2021
33
[Study of the genotypic and hematological feature of hemoglobin H disease in West Guangxi area]. 61
33306814 2020
34
Analysis of Hb levels and degree of anemia in relation to genotype in 615 patients with hemoglobin H disease. 61
32727230 2020
35
Iron Overload in a Patient with Non-Transfusion-Dependent Hemoglobin H Disease and Borderline Serum Ferritin: Can We Rely on Serum Ferritin for Monitoring in This Group of Patients? 61
32774254 2020
36
A combination of the (αα)GZ and --SEA deletions causing a severe form of hemoglobin H disease. 61
31756043 2020
37
Early development of decreased β-cell insulin secretion in children and adolescents with hemoglobin H disease and its relationship with levels of anemia. 61
31876111 2020
38
EF Bart's Disease with Coinheritance of Gγ-XmnI and Aγ-Globin Polymorphisms: A Case of Nontransfusion-Dependant Thalassemia. 61
33178467 2020
39
Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province. 61
32351918 2020
40
Iranian patients with hemoglobin H disease: genotype-phenotype correlation. 61
31273613 2019
41
[Serum level of soluble transferrin receptor in children with hemoglobin H disease]. 61
31506149 2019
42
Clinical Features and Genotypes of Patients with Hemoglobin H Disease in Taiwan. 61
30295867 2019
43
A Phenotypically Unusual Hemoglobin H Disease Resulting from a Rare α-Globin Genotype (-SEA/-α27.6). 61
30610050 2018
44
Unusual inclusions in hemoglobin H disease post-splenectomy. 61
29473200 2018
45
Elevations of Thrombotic Biomarkers in Hemoglobin H Disease. 61
29402840 2018
46
Molecular diagnosis of α-thalassemia in a multiethnic population. 61
28160324 2017
47
A molecular study on the role of alpha-hemoglobin-stabilizing protein in hemoglobin H disease. 61
28337528 2017
48
Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease. 61
28060122 2017
49
Obstetric care for women with thalassemia. 61
28341055 2017
50
A Severe Case of Hemoglobin H Disease due to Compound Heterozygosity for Deletion of the Major α-Globin Regulatory Element (MCS-R2) and α0-Thalassemia. 61
28743121 2017

Variations for Hemoglobin H Disease

ClinVar genetic disease variations for Hemoglobin H Disease:

6 (show all 11)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106804612 , HBA2 NM_000517.6(HBA2):c.1A>G (p.Met1Val) SNV Pathogenic 15645 rs121909803 GRCh37: 16:222912-222912
GRCh38: 16:172913-172913
2 LOC106804612 , HBA2 NM_000517.6(HBA2):c.2del (p.Met1fs) Deletion Pathogenic 15692 rs63750678 GRCh37: 16:222913-222913
GRCh38: 16:172914-172914
3 LOC106804613 , HBA1 NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) SNV Pathogenic 15849 rs28928878 GRCh37: 16:227011-227011
GRCh38: 16:177012-177012
4 LOC106804612 , HBA2 NM_000517.4(HBA2):c.427T>A (p.Ter143Lys) SNV Pathogenic 15626 rs41464951 GRCh37: 16:223597-223597
GRCh38: 16:173598-173598
5 LOC106804612 , HBA2 NM_000517.6(HBA2):c.*92A>G SNV Pathogenic 15647 rs63750067 GRCh37: 16:223691-223691
GRCh38: 16:173692-173692
6 LOC106804612 , HBA2 NM_000517.6(HBA2):c.89T>C (p.Leu30Pro) SNV Pathogenic 15651 rs41341344 GRCh37: 16:223000-223000
GRCh38: 16:173001-173001
7 LOC106804612 , HBA2 NM_000517.6(HBA2):c.314G>A (p.Cys105Tyr) SNV Pathogenic 15656 rs41417548 GRCh37: 16:223484-223484
GRCh38: 16:173485-173485
8 LOC106804612 , HBA2 NM_000517.6(HBA2):c.301-1G>A SNV Pathogenic 15668 rs587776827 GRCh37: 16:223470-223470
GRCh38: 16:173471-173471
9 LOC106804612 , HBA2 NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) SNV Pathogenic 15624 rs41464951 GRCh37: 16:223597-223597
GRCh38: 16:173598-173598
10 LOC106804612 , HBA2 NM_000517.4(HBA2):c.429A>T (p.Ter143Tyr) SNV Pathogenic 15652 rs41412046 GRCh37: 16:223599-223599
GRCh38: 16:173600-173600
11 LOC106804613 , HBA1 NM_000558.3(HBA1):c.187_189delGTG (p.Val63del) Deletion Pathogenic 15875 rs35672478 GRCh37: 16:227018-227020
GRCh38: 16:177019-177021

Expression for Hemoglobin H Disease

Search GEO for disease gene expression data for Hemoglobin H Disease.

Pathways for Hemoglobin H Disease

GO Terms for Hemoglobin H Disease

Cellular components related to Hemoglobin H Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.76 TFRC TF HBG2 HBE1 HBD HBB
2 haptoglobin-hemoglobin complex GO:0031838 9.56 HBZ HBQ1 HBG2 HBE1 HBD HBB
3 endocytic vesicle lumen GO:0071682 9.43 HBB HBA2 HBA1
4 HFE-transferrin receptor complex GO:1990712 9.32 TFRC TF
5 hemoglobin complex GO:0005833 9.28 HBZ HBQ1 HBG2 HBE1 HBD HBB

Biological processes related to Hemoglobin H Disease according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.76 HBZ HBQ1 HBG2 HBE1 HBD HBB
2 blood coagulation GO:0007596 9.73 HBG2 HBE1 HBD HBB
3 receptor-mediated endocytosis GO:0006898 9.62 TFRC HBB HBA2 HBA1
4 response to hydrogen peroxide GO:0042542 9.58 HBB HBA2 HBA1
5 hydrogen peroxide catabolic process GO:0042744 9.56 HBZ HBQ1 HBG2 HBE1 HBD HBB
6 positive regulation of cell death GO:0010942 9.54 HBB HBA2 HBA1
7 iron ion transport GO:0006826 9.51 TFRC TF
8 positive regulation of bone resorption GO:0045780 9.49 TFRC TF
9 tRNA splicing, via endonucleolytic cleavage and ligation GO:0006388 9.48 TSEN34 TSEN15
10 erythrocyte maturation GO:0043249 9.46 G6PD EPO
11 bicarbonate transport GO:0015701 9.43 HBB HBA2 HBA1
12 oxygen transport GO:0015671 9.23 HBZ HBQ1 HBG2 HBE1 HBD HBB

Molecular functions related to Hemoglobin H Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.97 HBZ HBQ1 HBG2 HBE1 HBD HBB
2 organic acid binding GO:0043177 9.92 HBZ HBQ1 HBG2 HBE1 HBD HBB
3 haptoglobin binding GO:0031720 9.86 HBZ HBQ1 HBG2 HBE1 HBD HBB
4 oxygen binding GO:0019825 9.76 HBZ HBQ1 HBG2 HBE1 HBD HBB
5 iron ion binding GO:0005506 9.73 HBZ HBQ1 HBA2 HBA1
6 hemoglobin alpha binding GO:0031721 9.71 HBG2 HBE1 HBD HBB
7 oxygen carrier activity GO:0005344 9.56 HBZ HBQ1 HBG2 HBE1 HBD HBB
8 hemoglobin binding GO:0030492 9.46 HBB AHSP
9 peroxidase activity GO:0004601 9.23 HBZ HBQ1 HBG2 HBE1 HBD HBB

Sources for Hemoglobin H Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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