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LPG
MCID: LPP002
MIFTS: 43

Lipoprotein Glomerulopathy (LPG)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Lipoprotein Glomerulopathy

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MalaCards integrated aliases for Lipoprotein Glomerulopathy:

Name: Lipoprotein Glomerulopathy 56 58 73 36 29 13 6 39 71
Lpg 56 58 73

Characteristics:

Orphanet epidemiological data:

58
lipoprotein glomerulopathy
Inheritance: Autosomal dominant; Age of onset: All ages;

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Nephrological diseases Endocrine diseases Blood diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare renal diseases
Inborn errors of metabolism
Rare endocrine diseases


External Ids:

OMIM 56 611771
KEGG 36 H00887
ICD10 via Orphanet 33 N07.8
UMLS via Orphanet 72 C2673196
Orphanet 58 ORPHA329481
MedGen 41 C2673196
UMLS 71 C2673196
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Summaries for Lipoprotein Glomerulopathy

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OMIM : 56 Lipoprotein glomerulopathy is an uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries (Saito et al., 2006). It mainly affects people of Japanese and Chinese origin; in these populations, it is associated with mutations in the gene that encodes apolipoprotein E (APOE; 107741). The disorder had rarely been described in Caucasians. (611771)

MalaCards based summary : Lipoprotein Glomerulopathy, also known as lpg, is related to hypertriglyceridemia, familial and hyperlipoproteinemia, type iii. An important gene associated with Lipoprotein Glomerulopathy is APOE (Apolipoprotein E), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include kidney, heart and endothelial, and related phenotypes are proteinuria and renal insufficiency

KEGG : 36 Lipoprotein glomerulopathy is a rare hereditary disorder characterized by disturbed remnant lipoprotein catabolism and intravascular glomerular deposition of lipoprotein-containing thrombi. Patients usually present with proteinuria and hypertension, microhematuria is rare, and renal function becomes impaired. Rare mutations in apolipoprotein E (apoE) gene may contribute to the pathogenesis of the disease.

UniProtKB/Swiss-Prot : 73 Lipoprotein glomerulopathy: Uncommon kidney disease characterized by proteinuria, progressive kidney failure, and distinctive lipoprotein thrombi in glomerular capillaries.

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Related Diseases for Lipoprotein Glomerulopathy

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Diseases related to Lipoprotein Glomerulopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 121)
# Related Disease Score Top Affiliating Genes
1 hypertriglyceridemia, familial 30.2 APOE APOB APOA2
2 hyperlipoproteinemia, type iii 29.8 LPA LDLR APOE APOB
3 generalized atherosclerosis 29.7 LPA APOE APOB
4 kidney disease 29.4 LPA LCAT APOE APOB
5 hypercholesterolemia, familial, 1 28.2 LPA LDLR LCAT APOE APOB APOA2
6 lipid metabolism disorder 28.1 LPA LDLR LCAT APOE APOB APOA2
7 familial hyperlipidemia 28.1 LPA LDLR LCAT APOE APOB APOA2
8 atherosclerosis susceptibility 28.0 LPA LDLR LCAT APOE APOB APOA2
9 nephrotic syndrome 10.7
10 kala-azar 1 10.4
11 leishmaniasis 10.4
12 glomerular disease 10.3
13 xanthoma disseminatum 10.2 APOE APOB
14 graft-versus-host disease 10.2
15 familial lipoprotein lipase deficiency 10.1 APOE APOB
16 silent myocardial infarction 10.1 LPA APOB
17 hyperlipoproteinemia, type v 10.1 APOE APOB
18 cerebral atherosclerosis 10.1 LPA APOE
19 platelet glycoprotein iv deficiency 10.1 APOE APOB
20 trichoepithelioma, multiple familial, 1 10.1
21 trichoepithelioma, multiple familial, 2 10.1
22 hearing loss, noise-induced 10.1
23 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
24 systemic scleroderma 10.1
25 localized scleroderma 10.1
26 crohn's disease 10.1
27 cutaneous leishmaniasis 10.1
28 obsolete: atypical teratoid/rhabdoid tumor 10.1
29 corneal degeneration 10.1 LPA APOB
30 leukodystrophy, hypomyelinating, 3 10.1 APOB APOA2
31 malignant hypertension 10.1
32 glomerulonephritis 10.1
33 iga glomerulonephritis 10.1
34 uremia 10.1
35 end stage renal failure 10.1
36 chronic graft versus host disease 10.1
37 posttransplant acute limbic encephalitis 10.1
38 intermediate coronary syndrome 10.0 LPA APOB
39 carotid stenosis 10.0 LPA APOE
40 coronary stenosis 10.0 APOE APOB
41 alzheimer disease 6 10.0 CLU APOE
42 smith-lemli-opitz syndrome 10.0 LDLR APOE
43 peripheral artery disease 9.9 APOE APOB
44 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 9.9 CLU APOE
45 autoimmune disease 9.9
46 systemic lupus erythematosus 9.9
47 neurofibromatosis, type i 9.9
48 neurofibromatosis, type iv, of riccardi 9.9
49 microvascular complications of diabetes 3 9.9
50 microvascular complications of diabetes 4 9.9

Graphical network of the top 20 diseases related to Lipoprotein Glomerulopathy:



Diseases related to Lipoprotein Glomerulopathy
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Symptoms & Phenotypes for Lipoprotein Glomerulopathy

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Human phenotypes related to Lipoprotein Glomerulopathy:

31
# Description HPO Frequency HPO Source Accession
1 proteinuria 31 HP:0000093
2 renal insufficiency 31 HP:0000083
3 glomerulopathy 31 HP:0100820
4 mesangial hypercellularity 31 HP:0012574

Clinical features from OMIM:

611771

GenomeRNAi Phenotypes related to Lipoprotein Glomerulopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.26 APOB APOE LDLR LPA
2 Increased LDL uptake GR00340-A-1 8.62 APOE LDLR
Sources

Drugs & Therapeutics for Lipoprotein Glomerulopathy

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Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Therapeutic Effect of Immunoadsorption for Patients With Lipoprotein Completed NCT00302510

Search NIH Clinical Center for Lipoprotein Glomerulopathy

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Genetic Tests for Lipoprotein Glomerulopathy

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Genetic tests related to Lipoprotein Glomerulopathy:

# Genetic test Affiliating Genes
1 Lipoprotein Glomerulopathy 29 APOE
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Anatomical Context for Lipoprotein Glomerulopathy

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MalaCards organs/tissues related to Lipoprotein Glomerulopathy:

40
Kidney, Heart, Endothelial, Eye
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Publications for Lipoprotein Glomerulopathy

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Articles related to Lipoprotein Glomerulopathy:

(show top 50) (show all 125)
# Title Authors PMID Year
1
APOE Kyoto mutation in European Americans with lipoprotein glomerulopathy. 61 56 6
18077821 2007
2
Virus-mediated transduction of apolipoprotein E (ApoE)-sendai develops lipoprotein glomerulopathy in ApoE-deficient mice. 61 56 6
10903326 2000
3
A novel apolipoprotein E mutation, E2 (Arg25Cys), in lipoprotein glomerulopathy. 61 56 6
10432380 1999
4
Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy. 61 56 6
9176854 1997
5
Impact of lipoprotein glomerulopathy on the relationship between lipids and renal diseases. 61 56
16431249 2006
6
[Discovery of a Chinese Tibetan patient with lipoprotein glomerulopathy due to APOE Osaka/Kurashiki variant]. 61
32034747 2020
7
Apolipoprotein E-related glomerular disorders. 61
31874799 2020
8
Intravascular cardiac lipoproteinosis: extrarenal manifestation of lipoprotein glomerulopathy. 61
31158730 2019
9
Pathogenesis, histopathologic findings and treatment modalities of lipoprotein glomerulopathy: A review. 61
30421781 2019
10
A novel apolipoprotein E mutation caused by a five amino acid deletion in a Chinese family with lipoprotein glomerulopathy: a case report. 61
31092271 2019
11
A young Chinese man with nephrotic syndrome due to lipoprotein glomerulopathy. 61
30685233 2019
12
Unusual Case of Lipoprotein Glomerulopathy First Diagnosed in a Protocol Kidney Allograft Biopsy. 61
30775634 2019
13
Apolipoprotein E in lipoprotein metabolism, health and cardiovascular disease. 61
30598326 2019
14
A novel apolipoprotein E mutation (p.Arg150Cys) in a Chinese patient with lipoprotein glomerulopathy. 61
30614865 2019
15
Lipoprotein Glomerulopathy in a Hispanic Female: A Case Report and Literature Review. 61
31285830 2019
16
Thermodynamic destabilization and aggregation propensity as the mechanism behind the association of apoE3 mutants and lipoprotein glomerulopathy. 61
30309894 2018
17
[Clinicopathologic features of lipoprotein glomerulopathy: observation of 6 cases]. 61
30293348 2018
18
The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy. 61
29398675 2018
19
A case of lipoprotein glomerulopathy with a rare apolipoprotein E isoform combined with neurofibromatosis type I. 61
29356944 2018
20
A Case of Lipoprotein Glomerulopathy with apoE Chicago and apoE (Glu3Lys) Treated with Fenofibrate. 61
28966924 2017
21
Five-year follow-up of a case of lipoprotein glomerulopathy with APOE Kyoto mutation. 61
28508969 2016
22
SPONTANEOUS LIPOPROTEIN GLOMERULOPATHY-LIKE NEPHROPATHY IN A SQUIRREL (SCIURUS VULGARIS). 61
27468047 2016
23
Update on the molecular biology of dyslipidemias. 61
26546829 2016
24
Histiocytic and Nonhistiocytic Glomerular Lesions: Foam Cells and Their Mimickers. 61
26606995 2016
25
[A case of diagnosing lipoprotein glomerulopathy in Russia]. 61
28139603 2016
26
Macrophage Infiltration into the Glomeruli in Lipoprotein Glomerulopathy. 61
26955632 2015
27
Macrophage-derived apoESendai suppresses atherosclerosis while causing lipoprotein glomerulopathy in hyperlipidemic mice. 61
25183802 2014
28
Long-term outcome of kidney transplantation in a patient with coexisting lipoprotein glomerulopathy and fibrillary glomerulonephritis. 61
25852917 2014
29
Apolipoprotein E mutations: a comparison between lipoprotein glomerulopathy and type III hyperlipoproteinemia. 61
24570178 2014
30
Lipoprotein glomerulopathy in China. 61
24165683 2014
31
Topics in lipoprotein glomerulopathy: an overview. 61
24149835 2014
32
A possible structural basis behind the pathogenic role of apolipoprotein E hereditary mutations associated with lipoprotein glomerulopathy. 61
24149834 2014
33
Dysbetalipoproteinaemia: a mixed hyperlipidaemia of remnant lipoproteins due to mutations in apolipoprotein E. 61
24405372 2014
34
Lipoprotein glomerulopathy may provide a key to unlock the puzzles of renal lipidosis. 61
24487366 2014
35
Hereditary features, treatment, and prognosis of the lipoprotein glomerulopathy in patients with the APOE Kyoto mutation. 61
24025644 2014
36
Apolipoprotein e mutation and double filtration plasmapheresis therapy on a new Chinese patient with lipoprotein glomerulopathy. 61
25300642 2014
37
Lipoprotein glomerulopathy: a case report of a rare disease in a Brazilian child. 61
24676620 2014
38
A founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy. 61
23407349 2013
39
A case of lipoprotein glomerulopathy with thrombotic microangiopathy due to malignant hypertension. 61
23448537 2013
40
Thermodynamic and structural destabilization of apoE3 by hereditary mutations associated with the development of lipoprotein glomerulopathy. 61
23110818 2013
41
Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e. 61
24348079 2013
42
[New evolution in lipoprotein glomerulopathy]. 61
24288968 2013
43
Macrophage impairment produced by Fc receptor gamma deficiency plays a principal role in the development of lipoprotein glomerulopathy in concert with apoE abnormalities. 61
22863838 2012
44
A rare cause of childhood-onset nephrotic syndrome: lipoprotein glomerulopathy. 61
22874113 2012
45
[Identification of a mutation in exon 4 of apolipoprotein E gene in a family affected with lipoprotein glomerulopathy]. 61
22487820 2012
46
[A case of lipoprotein glomerulopathy and a literature review of the subject]. 61
22561509 2012
47
Scavenger receptor expressions in the kidneys of mice with lipoprotein glomerulopathy. 61
22072188 2012
48
Lipoprotein glomerulopathy. 61
21464714 2011
49
Lipoprotein glomerulopathy: first report of 2 not consanguineous Italian men from the same town. 61
21534236 2011
50
A novel mutation ApoE2 Kurashiki (R158P) in a patient with lipoprotein glomerulopathy. 61
21467726 2011
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Variations for Lipoprotein Glomerulopathy

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ClinVar genetic disease variations for Lipoprotein Glomerulopathy:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 APOE NM_000041.4(APOE):c.488G>C (p.Arg163Pro)SNV Pathogenic 17879 rs121918397 19:45412041-45412041 19:44908784-44908784
2 APOE NM_000041.4(APOE):c.127C>T (p.Arg43Cys)SNV Pathogenic 17880 rs121918399 19:45411100-45411100 19:44907843-44907843

UniProtKB/Swiss-Prot genetic disease variations for Lipoprotein Glomerulopathy:

73
# Symbol AA change Variation ID SNP ID
1 APOE p.Arg43Cys VAR_042734 rs121918399
2 APOE p.Arg163Pro VAR_042735 rs121918397

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Expression for Lipoprotein Glomerulopathy

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Search GEO for disease gene expression data for Lipoprotein Glomerulopathy.
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Pathways for Lipoprotein Glomerulopathy

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Pathways related to Lipoprotein Glomerulopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 13.56 LPA LDLR LCAT APOE APOB APOA2
2
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.16 LDLR APOE APOB APOA2
3
Lipoprotein metabolism 65
Show member pathways
 11.97 LPA LDLR LCAT APOE APOB APOA2
4
Folate Metabolism 1
Show member pathways
 11.83 LDLR APOE APOB
5
Metabolism of fat-soluble vitamins 65
Show member pathways
 11.79 LDLR APOE APOB APOA2
6
Statin Pathway 1
Show member pathways
 11.17 LPA LDLR LCAT APOE APOB APOA2
7
amb2 Integrin signaling 1
11.09 LPA APOB
8
A-beta Pathways: Uptake and Degradation 64
10.87 LDLR APOE
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GO Terms for Lipoprotein Glomerulopathy

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Cellular components related to Lipoprotein Glomerulopathy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.93 LCAT CLU APOE APOB APOA2
2 extracellular region GO:0005576 9.93 LPA LCAT CLU APOE APOB APOA2
3 extracellular space GO:0005615 9.91 LCAT CLU APOE APOB APOA2
4 endoplasmic reticulum lumen GO:0005788 9.7 APOE APOB APOA2
5 early endosome GO:0005769 9.67 LDLR APOE APOB APOA2
6 blood microparticle GO:0072562 9.65 CLU APOE APOA2
7 clathrin-coated endocytic vesicle membrane GO:0030669 9.5 LDLR APOE APOB
8 endocytic vesicle lumen GO:0071682 9.49 APOE APOB
9 spherical high-density lipoprotein particle GO:0034366 9.43 CLU APOA2
10 very-low-density lipoprotein particle GO:0034361 9.43 APOE APOB APOA2
11 intermediate-density lipoprotein particle GO:0034363 9.4 APOE APOB
12 low-density lipoprotein particle GO:0034362 9.33 LDLR APOE APOB
13 chylomicron GO:0042627 9.13 APOE APOB APOA2
14 high-density lipoprotein particle GO:0034364 8.92 LCAT APOE APOB APOA2

Biological processes related to Lipoprotein Glomerulopathy according to GeneCards Suite gene sharing:

(show all 40)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.97 LPA LDLR LCAT CLU APOE APOB
2 steroid metabolic process GO:0008202 9.87 LDLR LCAT APOE APOB
3 positive regulation of gene expression GO:0010628 9.86 LDLR CLU APOB
4 post-translational protein modification GO:0043687 9.85 APOE APOB APOA2
5 cellular protein metabolic process GO:0044267 9.84 APOE APOB APOA2
6 receptor-mediated endocytosis GO:0006898 9.83 LDLR APOE APOB
7 lipid transport GO:0006869 9.8 LPA LDLR APOE APOB APOA2
8 retinoid metabolic process GO:0001523 9.79 APOE APOB APOA2
9 artery morphogenesis GO:0048844 9.76 LDLR APOE APOB
10 cholesterol efflux GO:0033344 9.75 APOE APOB APOA2
11 high-density lipoprotein particle remodeling GO:0034375 9.73 LCAT APOE APOA2
12 high-density lipoprotein particle clearance GO:0034384 9.72 LDLR APOE APOA2
13 chylomicron assembly GO:0034378 9.71 APOE APOB APOA2
14 chylomicron remnant clearance GO:0034382 9.7 LDLR APOE APOB
15 chylomicron remodeling GO:0034371 9.69 APOE APOB APOA2
16 triglyceride metabolic process GO:0006641 9.68 APOE APOA2
17 long-term memory GO:0007616 9.67 LDLR APOE
18 phosphatidylcholine biosynthetic process GO:0006656 9.67 LCAT APOA2
19 lipoprotein metabolic process GO:0042157 9.67 LDLR APOE APOB APOA2
20 low-density lipoprotein particle clearance GO:0034383 9.66 LDLR APOB
21 regulation of cholesterol metabolic process GO:0090181 9.65 LDLR APOE
22 negative regulation of amyloid-beta formation GO:1902430 9.65 CLU APOE
23 high-density lipoprotein particle assembly GO:0034380 9.65 APOE APOA2
24 lipoprotein biosynthetic process GO:0042158 9.65 LCAT APOE APOB
25 cholesterol homeostasis GO:0042632 9.65 LDLR LCAT APOE APOB APOA2
26 phospholipid efflux GO:0033700 9.64 APOE APOA2
27 regulation of protein metabolic process GO:0051246 9.64 LDLR APOE
28 very-low-density lipoprotein particle remodeling GO:0034372 9.63 LCAT APOE
29 positive regulation of cholesterol esterification GO:0010873 9.63 APOE APOA2
30 negative regulation of amyloid fibril formation GO:1905907 9.63 LDLR CLU APOE
31 very-low-density lipoprotein particle clearance GO:0034447 9.62 APOE APOB
32 protein import GO:0017038 9.62 CLU APOE
33 cholesterol transport GO:0030301 9.62 LDLR LCAT APOB APOA2
34 positive regulation of amyloid fibril formation GO:1905908 9.61 CLU APOE
35 lipoprotein catabolic process GO:0042159 9.61 LDLR APOE APOB
36 regulation of amyloid-beta clearance GO:1900221 9.6 CLU APOE
37 response to caloric restriction GO:0061771 9.59 LDLR APOE
38 cholesterol metabolic process GO:0008203 9.55 LDLR LCAT APOE APOB APOA2
39 reverse cholesterol transport GO:0043691 9.26 LCAT CLU APOE APOA2
40 low-density lipoprotein particle remodeling GO:0034374 8.92 LPA APOE APOB APOA2

Molecular functions related to Lipoprotein Glomerulopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.63 CLU APOE APOA2
2 heparin binding GO:0008201 9.58 LPA APOE APOB
3 phospholipid binding GO:0005543 9.54 APOE APOB APOA2
4 tau protein binding GO:0048156 9.43 CLU APOE
5 amyloid-beta binding GO:0001540 9.43 LDLR CLU APOE
6 lipid transporter activity GO:0005319 9.33 APOE APOB APOA2
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.32 APOE APOA2
8 low-density lipoprotein particle receptor binding GO:0050750 9.13 CLU APOE APOB
9 intermembrane cholesterol transfer activity GO:0120020 8.8 APOE APOB APOA2
Sources

Sources for Lipoprotein Glomerulopathy

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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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