HEIBAN
MCID: HNZ004
MIFTS: 40

Heinz Body Anemias (HEIBAN)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Heinz Body Anemias

MalaCards integrated aliases for Heinz Body Anemias:

Name: Heinz Body Anemias 57 20 72 70
Heinz Body Anemia 57 12 29 13 6 15
Heinz Body Anemias, Alpha- 57
Acquired Heinz Body Anemia 70
Anemia, Heinz Body 39
Heiban 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
heinz body anemias:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111363
OMIM® 57 140700
MedGen 41 C0700299
SNOMED-CT via HPO 68 263681008
UMLS 70 C0272007 C0700299

Summaries for Heinz Body Anemias

OMIM® : 57 This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; 208530). (140700) (Updated 20-May-2021)

MalaCards based summary : Heinz Body Anemias, also known as heinz body anemia, is related to deficiency anemia and hemolytic anemia. An important gene associated with Heinz Body Anemias is HBB (Hemoglobin Subunit Beta), and among its related pathways/superpathways are Malaria and Binding and Uptake of Ligands by Scavenger Receptors. Affiliated tissues include spleen and liver, and related phenotypes are abnormality of metabolism/homeostasis and nonspherocytic hemolytic anemia

Disease Ontology : 12 A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has material basis in heterozygous mutation in HBA1, HBA2 or HBB on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively.

UniProtKB/Swiss-Prot : 72 Heinz body anemias: Form of non-spherocytic hemolytic anemia of Dacie type 1. After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability. Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies) and with glutathione peroxidase deficiency.

Related Diseases for Heinz Body Anemias

Diseases related to Heinz Body Anemias via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 deficiency anemia 30.4 LOC107133510 LOC106804612 LOC106099062 HP HBB HBA2
2 hemolytic anemia 30.4 LOC107133510 LOC106099062 HP HBB HBA2 HBA1
3 methemoglobinemia 30.2 LOC107133510 LOC106099062 HP HBB HBA2 HBA1
4 hemoglobinopathy 29.1 LOC110006319 LOC107133510 LOC106804613 LOC106099062 HP HBZ
5 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.3 HBA2 HBA1
6 glutathione peroxidase deficiency 10.3 HBB HBA2 HBA1
7 hemoglobin e-beta-thalassemia syndrome 10.3 LOC107133510 LOC106099062 HBB
8 immune hydrops fetalis 10.3 HBA2 HBA1
9 sickle cell disease and related diseases 10.3 LOC107133510 LOC106099062 HBB
10 hypoglycemic coma 10.3 HBA2 HBA1
11 splenic infarction 10.3 LOC107133510 LOC106099062 HBB
12 hypochromic microcytic anemia 10.2 HBB HBA2 HBA1
13 type 1 diabetes mellitus 24 10.2 HBA2 HBA1
14 histiocytosis-lymphadenopathy plus syndrome 10.2 HBQ1 HBB HBA2
15 splenomegaly 10.2 LOC106804612 HBA2 HBA1
16 thalassemia minor 10.2 LOC107133510 LOC106099062 HBB HBA2
17 beta-thalassemia intermedia 10.2 LOC110006319 LOC107133510 LOC106099062 HBB
18 erythrocytosis, familial, 7 10.2 LOC106804613 LOC106804612 HBA2 HBA1
19 methemoglobinemia, beta type 10.2 LOC110006319 LOC107133510 LOC106099062 HBB
20 hydrops fetalis, nonimmune 10.2 HBA2 HBA1
21 beta-thalassemia, dominant inclusion body type 10.2 LOC110006319 LOC107133510 LOC106099062 HBB
22 hemoglobin c disease 10.2 LOC107133510 LOC106099062 HBQ1 HBB
23 beta-thalassemia major 10.2 LOC110006319 LOC107133510 LOC106099062 HBB
24 hemoglobin d disease 10.2 LOC110006319 LOC107133510 HBQ1 HBB
25 hemoglobin e disease 10.2 LOC107133510 LOC106099062 HBQ1 HBB
26 fetal hemoglobin quantitative trait locus 1 10.2 LOC110006319 LOC107133510 LOC106099062 HBB
27 alpha thalassemia-intellectual disability syndrome type 1 10.1 HBQ1 HBA2 HBA1 BAIAP3
28 hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 10.1 LOC110006319 LOC107133510 LOC106099062 HBB
29 splenic sequestration 10.1 HP HBB
30 hemoglobin zurich 10.1 LOC107133510 LOC106804612 LOC106099062 HBB HBA2
31 lipase deficiency, combined 10.1 TM2D3 NME3 ASB7
32 erythrocytosis, familial, 6 10.1 LOC110006319 LOC107133510 LOC106099062 HBB
33 hemoglobin se disease 10.1 LOC110006319 LOC107133510 LOC106099062 HBB
34 cyanosis, transient neonatal 10.0
35 diarrhea 10.0
36 agammaglobulinemia 10.0
37 dermatitis 10.0
38 glucosephosphate dehydrogenase deficiency 10.0
39 fibrosarcoma 10.0
40 posttransplant acute limbic encephalitis 10.0
41 trachoma 10.0 HP HBB
42 methemoglobinemia, beta-globin type 10.0 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
43 beta-thalassemia 10.0 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
44 short-rib thoracic dysplasia 9 with or without polydactyly 10.0 TM2D3 CCDC78 BAIAP3 ASB7
45 sickle cell anemia 10.0 LOC110006319 LOC107133510 LOC106099062 HBB HBA2 HBA1
46 congenital hemolytic anemia 9.9 HP HBQ1 HBB HBA2 CYB5R3
47 priapism 9.9 HP HBB
48 sickle cell disease 9.9 LOC110006319 LOC107133510 LOC106099062 HP HBB HBA2
49 hemoglobin h disease 9.8 LOC106804613 LOC106804612 HBZ HBQ1 HBB HBA2
50 thalassemia 9.8 LOC110006319 LOC107133510 LOC106804613 LOC106804612 LOC106099062 HBB

Graphical network of the top 20 diseases related to Heinz Body Anemias:



Diseases related to Heinz Body Anemias

Symptoms & Phenotypes for Heinz Body Anemias

Human phenotypes related to Heinz Body Anemias:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 nonspherocytic hemolytic anemia 31 HP:0001930
3 heinz body anemia 31 HP:0005511
4 heinz bodies 31 HP:0020082

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Heme:
nonspherocytic hemolytic anemia
heinz bodies in erythrocytes after splenectomy

Lab:
heat-labile hemoglobin

Clinical features from OMIM®:

140700 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Heinz Body Anemias according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 9.36 HBA1 HBA2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.36 NME3
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-205 9.36 HBA1 HBA2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-22 9.36 NME3
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-47 9.36 NME3
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.36 HBA1 HBA2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-88 9.36 NME3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.36 NME3

Drugs & Therapeutics for Heinz Body Anemias

Search Clinical Trials , NIH Clinical Center for Heinz Body Anemias

Genetic Tests for Heinz Body Anemias

Genetic tests related to Heinz Body Anemias:

# Genetic test Affiliating Genes
1 Heinz Body Anemia 29 HBA1 HBA2 HBB

Anatomical Context for Heinz Body Anemias

MalaCards organs/tissues related to Heinz Body Anemias:

40
Spleen, Liver

Publications for Heinz Body Anemias

Articles related to Heinz Body Anemias:

(show top 50) (show all 75)
# Title Authors PMID Year
1
Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted. 61 6
2599881 1989
2
Hyperunstable hemoglobin Toyama [alpha 2 136(H19)Leu----Arg beta 2]: detection and identification by in vitro biosynthesis with radioactive amino acids. 61 6
2833478 1987
3
Hb A2-Monreale [delta146(HC3)His-->Arg], a novel delta chain variant detected in west Sicily. 6
11939506 2002
4
A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp). 57
8704193 1996
5
Hb Bibba or alpha 2 136(H19)Leu-->Pro beta 2 in a Caucasian family from Alabama. 6
7558871 1995
6
Initiation codon mutation (ATG --> ATA) of the beta-globin gene causing beta-thalassemia in a Swedish family. 6
7864023 1995
7
Hemoglobin Terre Haute arginine beta 106. A posthumous correction to the original structure of hemoglobin Indianapolis. 6
2005117 1991
8
Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. 6
3260032 1988
9
Hemoglobin Köln: direct analysis of the gene mutation by synthetic DNA probes. 6
3768534 1986
10
A case of hemoglobin Indianapolis [beta 112(G14) Cys----Arg] in an individual from Cordoba, Spain. 6
3781865 1986
11
Hb Saint Louis or alpha 2 beta 2(28)(B10)Leu----Gln in a Czechoslovakian male. 6
3557999 1986
12
Hb Tacoma [beta 30(B12) Arg----Ser], a slightly unstable hemoglobin variant found in Japan. 6
3937827 1985
13
Hemoglobin Bristol or beta 67(E11) Val----Asp in Japan. 57
3997544 1985
14
beta 0 thalassemia, a nonsense mutation in man. 6
88735 1979
15
Hemoglobin J Altgeld Gardens. A hemoglobin variant with a substitution of the proximal histidine of the beta-chain. 6
721609 1978
16
Functional and physicochemical studies of hemoglobin St. Louis beta 28 (B10) Leu replaced by Gln: a variant with ferric beta heme iron. 6
186485 1976
17
A Swiss family with hemoglobin P Galveston beta117His leads to Arg, including two patients with hb P/beta thalassemia. 6
1164567 1975
18
Hemoglobin Toluchi: beta 131 glutamine leads to glutamic acid, an example of Hb Camden in Japan. 6
1173714 1975
19
"In vitro" normal biosynthesis of an unstable ferri-hemoglobin: hemoglobin Saint Louis B10 (beta28) leu yields gln. 6
4281476 1974
20
New unstable haemoglobin (Hb Moscva, beta24 (B4) Gly leads to Asp) found in the USSR. 6
4525423 1974
21
Hemoglobin San Diego (beta 109 (G11) val--met). Crystal structure of the deoxy form. 6
4808645 1974
22
Identical substitution in Hb Ube-1 and Hb Köln. 6
4514958 1973
23
Unstable haemoglobin Köln disease in members of a Malay family. 6
5079107 1972
24
Hemoglobin Köln disease occurring as a fresh mutation: erythrocyte metabolism and survival. 6
4942314 1971
25
Structural characterization of hemoglobin Tacoma. 6
5785231 1969
26
Haemoglobin Leiden: deletion of beta-6 or 7 glutamic acid. 6
5698750 1968
27
Hemoglobin-Bibba or alpha-2-136Pro-beta 2, an unstable alpha chain abnormal hemoglobin. 6
5639009 1968
28
Haemoglobin sydney: Beta-67 (E11) valine modified to alanine: an emerging pattern of unstable haemoglobins. 6
6050213 1967
29
A West Australian family with a haemolytic disorder associated with haemoglobin Köln. 6
6029950 1967
30
Köln haemoglobinopathy. Further data and a comparison with other hereditary Heinz body anaemias. 6
6067323 1967
31
[Hemoglobin Köln disease: familial hypochromic hemolytic anemia with hemoglobin anomaly]. 6
5881530 1965
32
Hemoglobin M disease in Japan. 6
5856115 1965
33
Hemoglobin tacoma--a beta-chain variant associated with increased hb A2. 6
5869485 1965
34
HEREDITARY HEINZ-BODY ANAEMIA, THROMBOCYTOPENIA, AND HAEMOGLOBINOPATHY (HB KOELN) IN A GLASGOW FAMILY. 6
14198723 1964
35
HEREDITARY HEINZ-BODY ANAEMIA. A REPORT OF STUDIES ON FIVE PATIENTS WITH MILD ANAEMIA. 57
14184033 1964
36
Clinical Heinz Body Anemia in a Cat After Repeat Propofol Administration Case Report. 61
33195628 2020
37
Severe Heinz body anemia and methemoglobinemia in a kitten with chronic diarrhea. 61
29615382 2018
38
Early postnatal diagnosis of hereditary spherocytosis by combining light microscopy, acidified glycerol lysis test and eosin-5'-maleimide binding assay. 61
26336967 2015
39
Toxicology and carcinogenesis studies of methylene blue trihydrate (Cas No. 7220-79-3) in F344/N rats and B6C3F1 mice (gavage studies). 61
18685714 2008
40
Heinz body anemia in a dog that had been sprayed with skunk musk. 61
15882003 2005
41
Association of maximum voluntary dietary intake of freeze-dried garlic with Heinz body anemia in horses. 61
15822591 2005
42
Heinz-body hemolytic anemia associated with ingestion of methylene blue in a river otter. 61
11829270 2002
43
Antioxidant prevention of Heinz body formation and oxidative injury in cats. 61
11277202 2001
44
Adaptation of pregnant ewes to an exclusive onion diet. 61
10670075 2000
45
NTP Toxicity Studies of Methyl Ethyl Ketoxime Administered in Drinking Water to F344/N Rats and B6C3F1 Mice (CAS No. 96-29-7). 61
11986678 1999
46
A possible mechanism of heinz body hemolytic anemia induced by DQ-2511, a new gastroprokinetic drug, in dogs. 61
8921330 1996
47
Severe hemolytic anemia associated with the homozygous state for an unstable hemoglobin variant (Hb Bushwick). 61
7655024 1995
48
Heinz body anemia in a dog following possible naphthalene ingestion. 61
12664426 1995
49
Unstable alpha-chain hemoglobin variants with factitious beta-thalassemia biosynthetic ratio: Hb Questembert (alpha 131[H14]Ser-->Pro) and Hb Caen (alpha 132[H15]Val-->Gly). 61
8493987 1993
50
A review of Heinz-body anemia in the dog induced by toxins. 61
8470361 1993

Variations for Heinz Body Anemias

ClinVar genetic disease variations for Heinz Body Anemias:

6 (show all 22)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.316-106C>G SNV Pathogenic 15457 rs34690599 GRCh37: 11:5247062-5247062
GRCh38: 11:5225832-5225832
2 LOC106099062 , LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.315+1G>A SNV Pathogenic 15438 rs33945777 GRCh37: 11:5247806-5247806
GRCh38: 11:5226576-5226576
3 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+1G>A SNV Pathogenic 15436 rs33971440 GRCh37: 11:5248159-5248159
GRCh38: 11:5226929-5226929
4 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.52A>T (p.Lys18Ter) SNV Pathogenic 15401 rs33986703 GRCh37: 11:5248200-5248200
GRCh38: 11:5226970-5226970
5 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-137C>A SNV Pathogenic 36285 rs33941377 GRCh37: 11:5248388-5248388
GRCh38: 11:5227158-5227158
6 LOC106804612 , HBA2 NM_000517.6(HBA2):c.95+2_95+6del Deletion Pathogenic 375746 rs41474145 GRCh37: 16:223004-223008
GRCh38: 16:173005-173009
7 LOC106804613 , HBA1 NM_000558.5(HBA1):c.207C>G (p.Asn69Lys) SNV Pathogenic 439095 rs1060339 GRCh37: 16:227039-227039
GRCh38: 16:177040-177040
8 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.128T>C (p.Phe43Ser) SNV Pathogenic 15190 rs34378160 GRCh37: 11:5247994-5247994
GRCh38: 11:5226764-5226764
9 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.20A>T (p.Glu7Val) SNV Pathogenic 15333 rs334 GRCh37: 11:5248232-5248232
GRCh38: 11:5227002-5227002
10 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.118C>T (p.Gln40Ter) SNV Pathogenic 15402 rs11549407 GRCh37: 11:5248004-5248004
GRCh38: 11:5226774-5226774
11 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93-21G>A SNV Pathogenic 15454 rs35004220 GRCh37: 11:5248050-5248050
GRCh38: 11:5226820-5226820
12 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+6T>C SNV Pathogenic 15450 rs35724775 GRCh37: 11:5248154-5248154
GRCh38: 11:5226924-5226924
13 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.92+5G>C SNV Pathogenic 15447 rs33915217 GRCh37: 11:5248155-5248155
GRCh38: 11:5226925-5226925
14 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-79A>G SNV Pathogenic 15469 rs34598529 GRCh37: 11:5248330-5248330
GRCh38: 11:5227100-5227100
15 LOC106804613 , HBA1 NM_000558.5(HBA1):c.410T>G (p.Leu137Arg) SNV Pathogenic 15828 rs34635364 GRCh37: 16:227391-227391
GRCh38: 16:177392-177392
16 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.127_129del (p.Phe43del) Deletion Pathogenic 15121 rs41417446 GRCh37: 11:5247993-5247995
GRCh38: 11:5226763-5226765
17 LOC110006319 , HBB , LOC107133510 NM_000518.5(HBB):c.337T>C (p.Cys113Arg) SNV Pathogenic 15207 rs35849199 GRCh37: 11:5246935-5246935
GRCh38: 11:5225705-5225705
18 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.295G>A (p.Val99Met) SNV Pathogenic 15241 rs33933298 GRCh37: 11:5247827-5247827
GRCh38: 11:5226597-5226597
19 LOC106099062 , HBB , LOC107133510 NM_000518.4(HBB):c.86T>A (p.Leu29Gln) SNV Pathogenic 15361 rs33916412 GRCh37: 11:5248166-5248166
GRCh38: 11:5226936-5226936
20 LOC106099062 , HBB , LOC107133510 NM_000518.5(HBB):c.93G>T (p.Arg31Ser) SNV Pathogenic 15368 rs1135071 GRCh37: 11:5248029-5248029
GRCh38: 11:5226799-5226799
21 HBA1 , LOC106804612 , HBA2 NM_000517.6(HBA2):c.410T>C (p.Leu137Pro) SNV Pathogenic 15655 rs41469945 GRCh37: 16:223580-223580
GRCh38: 16:173581-173581
22 HBB , LOC106099062 , LOC107133510 NM_000518.5(HBB):c.-138C>A SNV Likely pathogenic 393701 rs33944208 GRCh37: 11:5248389-5248389
GRCh38: 11:5227159-5227159

Expression for Heinz Body Anemias

Search GEO for disease gene expression data for Heinz Body Anemias.

Pathways for Heinz Body Anemias

GO Terms for Heinz Body Anemias

Cellular components related to Heinz Body Anemias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood microparticle GO:0072562 9.56 HP HBB HBA2 HBA1
2 endocytic vesicle lumen GO:0071682 9.46 HP HBB HBA2 HBA1
3 hemoglobin complex GO:0005833 9.43 HBZ HBQ1 HBB HBA2 HBA1 CYB5R3
4 haptoglobin-hemoglobin complex GO:0031838 9.1 HP HBZ HBQ1 HBB HBA2 HBA1

Biological processes related to Heinz Body Anemias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.71 HP HBB HBA2 HBA1
2 cellular oxidant detoxification GO:0098869 9.63 HP HBZ HBQ1 HBB HBA2 HBA1
3 response to hydrogen peroxide GO:0042542 9.62 HP HBB HBA2 HBA1
4 positive regulation of cell death GO:0010942 9.56 HP HBB HBA2 HBA1
5 bicarbonate transport GO:0015701 9.54 HBB HBA2 HBA1
6 hydrogen peroxide catabolic process GO:0042744 9.35 HBZ HBQ1 HBB HBA2 HBA1
7 oxygen transport GO:0015671 9.02 HBZ HBQ1 HBB HBA2 HBA1

Molecular functions related to Heinz Body Anemias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.77 HBZ HBQ1 HBB HBA2 HBA1
2 peroxidase activity GO:0004601 9.72 HBZ HBQ1 HBB HBA2 HBA1
3 iron ion binding GO:0005506 9.71 HBZ HBQ1 HBA2 HBA1
4 oxygen binding GO:0019825 9.65 HBZ HBQ1 HBB HBA2 HBA1
5 oxygen carrier activity GO:0005344 9.55 HBZ HBQ1 HBB HBA2 HBA1
6 hemoglobin binding GO:0030492 9.43 HP HBB
7 organic acid binding GO:0043177 9.35 HBZ HBQ1 HBB HBA2 HBA1
8 haptoglobin binding GO:0031720 9.02 HBZ HBQ1 HBB HBA2 HBA1

Sources for Heinz Body Anemias

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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