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MCID: PRN011
MIFTS: 52

Pernicious Anemia

Categories: Metabolic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pernicious Anemia

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MalaCards integrated aliases for Pernicious Anemia:

Name: Pernicious Anemia 56 12 74 52 15 62 17
Anemia, Pernicious 74 43 71
Anemia Pernicious 12 54
Juvenile Onset Pernicious Anemia 52
Acquired Pernicious Anemia 52
Addison-Biermer Anemia 52
Addison's Anaemia 12
Addisonian Anemia 52
Biermer's Disease 52
Biermer's Anemia 12
Biermer Anemia 52

Characteristics:

OMIM:

56
Inheritance:
? autosomal dominant


HPO:

31
pernicious anemia:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:13381
OMIM 56 170900
ICD9CM 34 281.0
MeSH 43 D000752
NCIt 49 C2871
SNOMED-CT 67 84027009
ICD10 32 D51.0
MedGen 41 C0002892
SNOMED-CT via HPO 68 263681008 53165003
UMLS 71 C0002892
Sources

Summaries for Pernicious Anemia

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PubMed Health : 62 About pernicious anemia: Pernicious anemia (per-NISH-us uh-NEE-me-uh) is a condition in which the body can't make enough healthy red blood cells because it doesn't have enough vitamin B12. Vitamin B12 is a nutrient found in some foods. The body needs this nutrient to make healthy red blood cells and to keep its nervous system working properly. People who have pernicious anemia can't absorb enough vitamin B12 from food. This is because they lack intrinsic (in-TRIN-sik) factor, a protein made in the stomach. A lack of this protein leads to vitamin B12 deficiency. Other conditions and factors also can cause vitamin B12 deficiency. Examples include infections, surgery, medicines, and diet. Technically, the term "pernicious anemia" refers to vitamin B12 deficiency due to a lack of intrinsic factor. Often though, vitamin B12 deficiency due to other causes also is called pernicious anemia. This article discusses pernicious anemia due to a lack of intrinsic factor and other causes.

MalaCards based summary : Pernicious Anemia, also known as anemia, pernicious, is related to intrinsic factor deficiency and gastritis, and has symptoms including fatigue An important gene associated with Pernicious Anemia is CBLIF (Cobalamin Binding Intrinsic Factor), and among its related pathways/superpathways are Folate Metabolism and Diseases of metabolism. The drugs Thiamine and Thiamin have been mentioned in the context of this disorder. Affiliated tissues include thyroid, liver and bone, and related phenotypes are megaloblastic anemia and malabsorption of vitamin b12

Disease Ontology : 12 A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has material basis in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors.

NIH Rare Diseases : 52 Biermer's disease , also called acquired pernicious anemia , is a condition in which the body is unable to properly utilize vitamin B12 . Because vitamin B12 is essential for the formation of red blood cells , this condition is primarily characterized by anemia (too few red blood cells ). Affected people may also experience gastrointestinal issues and neurological abnormalities (such as paresthesia , weakness, and clumsiness). Biermer's disease and other forms of pernicious anemia are thought to be autoimmune conditions which occur when the body's immune system mistakenly attacks healthy tissue . Treatment generally consists of large doses of vitamin B12, usually as an injection .

Wikipedia : 74 Vitamin B12 deficiency anemia, of which pernicious anemia is a type, is a disease in which not enough... more...

More information from OMIM: 170900
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Related Diseases for Pernicious Anemia

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Diseases related to Pernicious Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 488)
# Related Disease Score Top Affiliating Genes
1 intrinsic factor deficiency 34.6 FUT2 CBLIF
2 gastritis 32.9 SST GAST CCR6 ATP4A
3 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 32.6 GAD2 AIRE
4 congenital intrinsic factor deficiency 32.4 TCN2 TCN1 CBLIF CBL
5 vitiligo-associated multiple autoimmune disease susceptibility 1 32.0 TPO TG PTPN22 NUDT10 CCR6 AIRE
6 deficiency anemia 31.7 TCN2 CBLIF CBL ATP4A ATP12A
7 macrocytic anemia 31.4 TCN2 GAST CBLIF
8 thyroiditis 31.0 TPO TG PTPN22
9 carcinoid tumors, intestinal 30.8 SST GAST
10 gastric neuroendocrine neoplasm 30.7 SST GAST CBLIF
11 hyperthyroidism 30.7 TPO TG SST
12 autoimmune gastritis 30.7 GAST CCR6 CBLIF ATP4A ATP12A
13 goiter 30.6 TPO TG SST
14 thyroid gland disease 30.6 TPO TG SST CCR6
15 microinvasive gastric cancer 30.6 GAST ATP4A ATP12A
16 neuroendocrine tumor 30.6 SST GAST ATP4A
17 zollinger-ellison syndrome 30.5 SST GAST ATP4A ATP12A
18 glossitis 30.5 TCN2 CBLIF ATP4A ATP12A
19 cutaneous candidiasis 30.4 CCR6 AIRE
20 hernia, hiatus 30.4 GAST ATP4A ATP12A
21 autoimmune disease 30.4 TPO TG PTPN22 GAD2 CCR6 AIRE
22 peptic ulcer disease 30.4 SST GAST ATP4A ATP12A
23 tropical sprue 30.3 TCN1 GAST CBLIF ATP12A
24 thymoma 30.3 TG SST PTPN22 AIRE
25 hashimoto thyroiditis 30.3 TPO TG PTPN22 AIRE
26 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.3 TPO TG PTPN22 GAD2 AIRE
27 bile reflux 30.2 GAST ATP4A ATP12A
28 exanthem 30.1 CCR6 ATP4A ATP12A
29 alopecia areata 30.1 TPO PTPN22 AIRE
30 granulomatous gastritis 30.1 GAST CBLIF ATP4A ATP12A
31 gastric antral vascular ectasia 30.0 SST GAST ATP4A ATP12A
32 megaloblastic anemia 30.0 TCN2 TCN1 MTR CBLIF CBL
33 esophageal candidiasis 30.0 CCR6 ATP4A ATP12A AIRE
34 hypothyroidism 30.0 TPO TG SST PTPN22 LEPQTL1 ATP4A
35 graves' disease 30.0 TPO TG PTPN22 GAD2 AIRE
36 hypoadrenocorticism, familial 29.9 TPO TG PTPN22 AIRE
37 homocystinuria 29.8 TCN2 MTR CBLIF
38 autoimmune polyendocrine syndrome 29.7 TPO TG GAD2 CCR6 AIRE
39 lymphocytic colitis 29.6 ATP4A ATP12A
40 vitamin b12 deficiency 29.0 TCN2 TCN1 MTR MMD GAST CBLIF
41 methylmalonic acidemia 28.9 TCN2 TCN1 MTR MMD CBLIF CBL
42 diabetes mellitus, insulin-dependent 28.6 TPO TG SST PTPN22 NUDT10 GAD2
43 celiac disease 1 27.9 TPO TG PTPN22 NUDT10 GAST GAD2
44 megaloblastic anemia 1 12.3
45 autoimmune atrophic gastritis 11.6
46 diphyllobothriasis 11.6
47 stiff-person syndrome 11.4
48 autoimmune polyglandular syndrome type 3 11.4
49 anemia, congenital dyserythropoietic, type iii 11.3
50 vitamin b12 plasma level quantitative trait locus 1 11.3

Comorbidity relations with Pernicious Anemia via Phenotypic Disease Network (PDN): (show all 15)


Active Peptic Ulcer Disease Acute Cystitis
Alzheimer Disease Bronchitis
Decubitus Ulcer Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypothyroidism Iron Deficiency Anemia
Osteoporosis Parkinson Disease, Late-Onset
Protein-Energy Malnutrition Schizophreniform Disorder
Transient Cerebral Ischemia

Graphical network of the top 20 diseases related to Pernicious Anemia:



Diseases related to Pernicious Anemia
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Symptoms & Phenotypes for Pernicious Anemia

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Human phenotypes related to Pernicious Anemia:

31
# Description HPO Frequency HPO Source Accession
1 megaloblastic anemia 31 HP:0001889
2 malabsorption of vitamin b12 31 HP:0200118

Symptoms via clinical synopsis from OMIM:

56
Heme:
pernicious anemia

Lab:
decreased oral absorption of cobalt-60 labeled vitamin b12

Clinical features from OMIM:

170900

Symptoms:

12
  • • fatigue

MGI Mouse Phenotypes related to Pernicious Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.81 AIRE ATP12A ATP4A FUT2 GAD2 GAST
2 homeostasis/metabolism MP:0005376 9.8 AIRE ATP12A ATP4A C1QTNF6 CBL CBLIF
3 immune system MP:0005387 9.44 AIRE ATP4A C1QTNF6 CBL CBLIF CCR6
Sources

Drugs & Therapeutics for Pernicious Anemia

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PubMed Health treatment related to Pernicious Anemia: 62

Doctors treat pernicious anemia by replacing the missing vitamin B12 in the body. People who have pernicious anemia may need lifelong treatment . The goals of treating pernicious anemia include: Preventing or treating the anemia and its signs and symptoms Preventing or managing complications, such as heart and nerve damage Treating the cause of the pernicious anemia (if a cause can be found)

Drugs for Pernicious Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 70-16-6, 59-43-8 1130
2 Thiamin Phase 4
3
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
4
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
5
leucovorin Approved Phase 3 58-05-9 6006 143
6
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
7
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
8
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
9
Cobalamin Experimental Phase 3 13408-78-1 6857388
10 Micronutrients Phase 3
11 Vitamins Phase 3
12 Trace Elements Phase 3
13 Vitamin B 12 Phase 3
14 Vitamin B Complex Phase 3
15 Vitamin B 6 Phase 3
16 Nutrients Phase 3
17 Vitamin B12 Phase 3
18 Vitamin B9 Phase 3
19 Hematinics Phase 3
20 Folate Phase 3
21
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
22
Apremilast Approved, Investigational Phase 2 608141-41-9 11561674
23 Anti-Inflammatory Agents Phase 2
24 Immunologic Factors Phase 2
25 Anti-Inflammatory Agents, Non-Steroidal Phase 2
26 Anti-Infective Agents Phase 2
27 Analgesics, Non-Narcotic Phase 2
28 Angiogenesis Inhibitors Phase 2
29 Antirheumatic Agents Phase 2
30 Anti-Bacterial Agents Phase 2
31 Immunosuppressive Agents Phase 2
32 Analgesics Phase 2
33
Omeprazole Approved, Investigational, Vet_approved 73590-58-6 4594
34 Proton Pump Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Megadose of Hydroxocobalamin (Vitamin B12) for the Treatment of Pernicious Anemia Unknown status NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg
2 A Randomised Double Blind Study of the Effects of Homocysteine Lowering Therapy on Mortality and Cardiac Events in Patients Undergoing Coronary Angiography Completed NCT00354081 Phase 3 folic acid, vitamin B12 (cyanocobalamin), vitamin B6 (pyridoxine);folic acid, vitamin B12 (cyanocobalamin);vitamin B6 (pyridoxine);placebo
3 Effect of Oral Vitamin B12 Administration for Vitamin B12 Deficiency After Total Gastrectomy Completed NCT00699478 Phase 2 mecobalamin
4 A Split Body Study of the Effects of Combined Therapy With Narrow-Band Ultraviolet B Phototherapy and Apremilast for the Treatment of Vitiligo Completed NCT03123016 Phase 2 Apremilast
5 Long-term Use of Proton Pump Inhibitors May Cause Vitamin B12 Deficiency in the Institutionalized Elderly Completed NCT00843453 treatment (cyanocobalamin nasal spray)
6 Evaluation of Holotranscobalamin as an Indicator of Vitamin B12 Absorption Completed NCT00235573
7 Screening for Gastric Cancer in High-risk Population Completed NCT00815113
8 Determining the Association Between Spontaneous Coronary Artery Dissection (SCAD) and Autoimmunity Recruiting NCT03941184

Search NIH Clinical Center for Pernicious Anemia

Inferred drug relations via UMLS 71 / NDF-RT 50 :


COBALAMIN CONCENTRATE
Hydroxocobalamin
HYDROXOCOBALAMIN ACETATE
mecobalamin
Vitamin B 12

Cochrane evidence based reviews: anemia, pernicious

Sources

Genetic Tests for Pernicious Anemia

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Anatomical Context for Pernicious Anemia

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MalaCards organs/tissues related to Pernicious Anemia:

40
Thyroid, Liver, Bone, Bone Marrow, Testes, Skin, Tongue
Sources

Publications for Pernicious Anemia

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Articles related to Pernicious Anemia:

(show top 50) (show all 2799)
# Title Authors PMID Year
1
Racial patterns in pernicious anemia. Early age at onset and increased frequency of intrinsic-factor antibody in black women. 61 56
628388 1978
2
Genetic and auto-immune features of pernicious anemia. I. Unreliability of the Schilling test in detecting genetic predisposition to the disease. 61 56
5648177 1968
3
Genetic factors in predisposition to pernicious anemia. 61 56
13662715 1959
4
A famiy study of pernicious anaemia. I. Autoantibodies, achlorhydria, serum pepsinogen and vitamin B12. 56
4865547 1968
5
A family study of pernicious anaemia. II. Intrinsic factor secretion, vitamin B12 absorption and genetic aspects of gastric autoimmunity. 56
5635601 1968
6
Correspondence (letter to the editor): Gastrin levels in pernicious anemia. 54 61
19547631 2009
7
Combined megaloblastic and immunohemolytic anemia associated--a case report. 54 61
19388472 2008
8
Production, secretion, and biological activity of the C-terminal flanking peptide of human progastrin. 54 61
17101322 2006
9
Long-term effects of elevated gastrin levels on calcitonin secretion. 54 61
17114906 2006
10
Histomorphological characteristics of gastric mucosa in patients with Zollinger-Ellison syndrome or autoimmune gastric atrophy: role of gastrin and atrophying gastritis. 54 61
10738314 2000
11
Gastrin biosynthesis in the antrum of patients with pernicious anemia. 54 61
9041234 1997
12
[Combined endocrine autoimmune syndrome--incidence, forms of manifestation and clinical significance]. 54 61
7973530 1994
13
Bispecific thyroglobulin and thyroperoxidase autoantibodies in patients with various thyroid and autoimmune diseases. 54 61
7962336 1994
14
Reciprocal changes in antral gastrin and somatostatin mRNA in pernicious anemia. 54 61
7906222 1994
15
Rapid regression of enterochromaffinlike cell gastric carcinoids in pernicious anemia after antrectomy. 54 61
1551550 1992
16
24-hour intragastric acidity and plasma gastrin after omeprazole treatment and after proximal gastric vagotomy in duodenal ulcer patients. 54 61
2227275 1990
17
Absence of a gastrin inhibitory factor in the IgG fraction of serum from patients with pernicious anaemia. 54 61
2387508 1990
18
Autoimmune Gastritis in Pediatrics: A Review of 3 Cases. 61
31978028 2020
19
High frequency of anti-parietal cell antibody (APCA) and intrinsic factor blocking antibody (IFBA) in individuals with severe vitamin B12 deficiency - an observational study in primary care patients. 61
31714882 2020
20
Toxicity induced by multiple high doses of vitamin B12 during pernicious anemia treatment: a case report. 61
31018715 2020
21
Anemia, hematinic deficiencies, and gastric parietal cell antibody positivity in atrophic glossitis patients with or without hyperhomocysteinemia. 61
31444017 2020
22
Vitamin B12: An Intergenerational Story. 61
31991435 2020
23
Antibodies involved in the development of pernicious anemia and other autoimmune diseases. 61
31813927 2020
24
Nutritional neuropathies. 61
31837157 2019
25
Serologic Profile of Antiparietal Cell Antibodies, Pepsinogens, and H. pylori and Risk of Upper Gastrointestinal Cancer: A Nested Case-Control Study in China. 61
31501152 2019
26
Thyro-entero-gastric autoimmunity: Pathophysiology and implications for patient management. 61
31864909 2019
27
Grave and Pernicious Anemia Presenting as Pancytopenia. 61
31862332 2019
28
Autoimmune Gastritis. 61
31661309 2019
29
Rare anterior funiculus lesions in subacute combined degeneration of the spinal cord: a case report and literature review. 61
31675909 2019
30
[Chronic autoimmune gastritis : a multidisciplinary management]. 61
31729849 2019
31
Hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with macrocytosis. 61
31324439 2019
32
Predictive risk factors for autoimmune thyroid diseases in patients with pernicious anemia. 61
31780218 2019
33
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with vitamin B12 deficiency. 61
31630933 2019
34
Autoimmune Gastritis in Pediatrics: A review of 3 cases. 61
31688697 2019
35
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with iron deficiency. 61
31607629 2019
36
Anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in 884 patients with burning mouth syndrome. 61
31679908 2019
37
High Prevalence of Autoimmune Gastritis in Patients with Nonalcoholic Steatohepatitis. 61
31292380 2019
38
[A Case of Suspected Nonparaneoplastic Autoimmune Panencephalitis with Widespread Multifocal Brain Lesions and Treatable Dementia Following Pernicious Anemia: A Seven Year Follow-Up Study]. 61
31506402 2019
39
Lack of historical evidence to support folic acid exacerbation of the neuropathy caused by vitamin B12 deficiency. 61
31187858 2019
40
Androgen deprivation therapy for prostate cancer and the risk of autoimmune diseases. 61
30692587 2019
41
Development and future prospects of selective organometallic compounds as anticancer drug candidates exhibiting novel modes of action. 61
31096151 2019
42
A Rare Cause of Pancytopenia in an Exclusively Breastfed Infant. 61
30028821 2019
43
Autoimmune Diseases and Gastric Cancer Risk: A Systematic Review and Meta-Analysis. 61
31048663 2019
44
Comorbid diseases of vitiligo: A 10-year cross-sectional retrospective study of an urban US population. 61
31325552 2019
45
Pleural extramedullary hematopoiesis due to severe pernicious anemia. 61
30503069 2019
46
Insights Into Pediatric Autoimmune Gastritis: Is There a Role for Helicobacter pylori Infection? 61
30664567 2019
47
Gastric parietal cell and thyroid autoantibodies in patients with atrophic glossitis. 61
30736997 2019
48
False elevations of vitamin B12 levels due to assay errors in a patient with pernicious anemia. 61
31309095 2019
49
Pernicious Anemia Presenting as Non-ST-elevated Myocardial Infarction and Depression. 61
31417815 2019
50
Transfer of peanut allergy from donor to recipient after liver transplant. 61
31031165 2019
Sources

Variations for Pernicious Anemia

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Expression for Pernicious Anemia

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Search GEO for disease gene expression data for Pernicious Anemia.
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GO Terms for Pernicious Anemia

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Cellular components related to Pernicious Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.23 TPO TCN2 TCN1 SST GAST CBLIF

Biological processes related to Pernicious Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular sodium ion homeostasis GO:0006883 9.43 ATP4A ATP12A
2 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.4 ATP4A ATP12A
3 sodium ion export across plasma membrane GO:0036376 9.37 ATP4A ATP12A
4 cobalamin transport GO:0015889 9.33 TCN2 TCN1 CBLIF
5 cellular potassium ion homeostasis GO:0030007 9.32 ATP4A ATP12A
6 hormone biosynthetic process GO:0042446 9.26 TPO TG
7 cobalt ion transport GO:0006824 9.13 TCN2 TCN1 CBLIF
8 cobalamin metabolic process GO:0009235 8.92 TCN2 TCN1 MTR CBLIF

Molecular functions related to Pernicious Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.5 TG SST GAST
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP4A ATP12A
3 potassium-transporting ATPase activity GO:0008556 9.16 ATP4A ATP12A
4 potassium:proton exchanging ATPase activity GO:0008900 8.96 ATP4A ATP12A
5 cobalamin binding GO:0031419 8.92 TCN2 TCN1 MTR CBLIF
Sources

Sources for Pernicious Anemia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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