MCID: LPR001
MIFTS: 47

Lepromatous Leprosy

Categories: Infectious diseases
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Aliases & Classifications for Lepromatous Leprosy

MalaCards integrated aliases for Lepromatous Leprosy:

Name: Lepromatous Leprosy 11 14 16 75 31
Leprosy, Lepromatous 43 71
Leprosy Lepromatous 53
Type L Leprosy 11

Classifications:



External Ids:

Disease Ontology 11 DOID:10887
ICD9CM 34 030.0
MeSH 43 D015440
SNOMED-CT 68 21560005
ICD10 31 A30.5
UMLS 71 C0023348

Summaries for Lepromatous Leprosy

Disease Ontology: 11 A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas.

MalaCards based summary: Lepromatous Leprosy, also known as leprosy, lepromatous, is related to erythema nodosum and neuritis. An important gene associated with Lepromatous Leprosy is IFNG (Interferon Gamma), and among its related pathways/superpathways are Innate Immune System and MIF Mediated Glucocorticoid Regulation. The drugs Clofazimine and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include skin, t cells and thymus, and related phenotypes are nervous system and cellular

Wikipedia: 75 Lepromatous leprosy is a form of leprosy characterized by pale macules in the skin.:... more...

Related Diseases for Lepromatous Leprosy

Diseases related to Lepromatous Leprosy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 847)
# Related Disease Score Top Affiliating Genes
1 erythema nodosum 31.5 TNF LTA IL1RN IL10 IFNG
2 neuritis 31.0 TNF IL4 IL10 IFNG
3 borderline leprosy 30.8 TLR2 SDHD MLLT1 CD4
4 alopecia 30.7 TNF IL4 IL2 IFNG
5 glomerulonephritis 30.7 TNF IL4 IL1RN IL10
6 dermatophytosis 30.6 TNF CD4 CCR6
7 rhinitis 30.6 TNF IL4 IL10 IFNG
8 tetanus 30.5 TNF LTA IL4 IL2 IL10 IFNG
9 mumps 30.5 TNF IL2 IL10 IFNG
10 indeterminate leprosy 30.4 SDHD PACRG
11 pulmonary tuberculosis 30.4 TNF TLR2 IL4 IL2 IL18 IL10
12 lymphadenitis 30.4 TNF IL18 IL10 IFNG CCR6
13 chronic granulomatous disease 30.4 TNF IFNG CD8A CD4
14 scleritis 30.4 TNF IL4 IFNG CCR6
15 hypereosinophilic syndrome 30.4 IL4 IL2 IL10 IFNG
16 sporotrichosis 30.4 TNF IL10 IFNG CD4
17 scabies 30.4 IL4 CD8A CD4 CCR6
18 cryoglobulinemia 30.4 TNF IL10 IFNG
19 testicular disease 30.4 TNF CD8A CD4
20 syphilis 30.3 TNF TLR2 CD8A CD4 CCR6
21 periapical granuloma 30.3 TLR2 IL4 IL2
22 ige responsiveness, atopic 30.3 IL4 IL10 IFNG
23 intestinal tuberculosis 30.3 TNF IFNG CD4
24 secondary syphilis 30.3 TNF CD8A CD4
25 bell's palsy 30.3 TNF CD8A CD4
26 immunoglobulin a deficiency 1 30.3 LTA IL4 IL10
27 leishmaniasis 30.3 TNF TLR2 LTA IL4 IL2 IL18
28 optic neuritis 30.3 TNF LTA IL10
29 pyoderma gangrenosum 30.3 TNF IL1RN CCR6
30 erythema multiforme 30.2 TNF IL4 IL2 IFNG
31 mixed connective tissue disease 30.2 TNF IL10 IFNG HSPD1
32 reactive arthritis 30.2 TNF HSPD1 CCR6
33 histiocytosis 30.2 TNF IL4 IFNG CCR6
34 bronchitis 30.2 TNF TLR2 IL4 IL10
35 uveitis 30.2 TNF LTA IL4 IL2 IL10 IFNG
36 oral tuberculosis 30.2 CD8A CD4
37 mastitis 30.2 TLR2 IL1RN IL18
38 cervical adenitis 30.1 TNF IFNG HSPD1 CD4
39 dermatitis 30.1 TNF IL4 IL2 IL18 IL10 IFNG
40 pemphigoid 30.1 TNF IL4 IL2 IL10 IFNG
41 purpura 30.1 TNF IL4 IL2 IL10 IFNG
42 nocardiosis 30.1 TNF IFNGR2 HSPD1 CD4
43 neurosyphilis 30.1 TLR2 TLR1 IL10
44 vitiligo-associated multiple autoimmune disease susceptibility 1 30.1 TNF IL2 CD8A CD4 CCR6
45 histoplasmosis 30.1 TNF IFNG CD4 CCR6
46 pulmonary sarcoidosis 30.1 TNF LTA IL2 IL18 IFNG
47 hypersensitivity reaction type iii disease 30.1 TNF IL10 CD4 CCR6
48 keratitis, hereditary 30.1 TNF TLR2 IL10 CD8A CD4 CCR6
49 human immunodeficiency virus type 1 30.1 IL2 IL10 IFNG CD4
50 primary syphilis 30.1 CD8A CD4

Graphical network of the top 20 diseases related to Lepromatous Leprosy:



Diseases related to Lepromatous Leprosy

Symptoms & Phenotypes for Lepromatous Leprosy

GenomeRNAi Phenotypes related to Lepromatous Leprosy according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 CCR6 CD1B CD4 CD8A HSPD1 IFNG
2 no effect GR00402-S-2 10.17 CCR6 CD4 HSPD1 IFNG IFNGR2 IL10

MGI Mouse Phenotypes related to Lepromatous Leprosy:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.27 CCR6 CD4 CD8A HSPD1 IFNG IL10
2 cellular MP:0005384 10.22 CD4 CD8A HSPD1 IFNG IFNGR2 IL10
3 immune system MP:0005387 10.2 CCR6 CD4 CD8A IFNG IFNGR2 IL10
4 endocrine/exocrine gland MP:0005379 10.16 CD4 CD8A IFNG IL10 IL2 IL4
5 cardiovascular system MP:0005385 10.11 CCR6 HSPD1 IFNG IL10 IL18 IL1RN
6 hematopoietic system MP:0005397 10.09 CCR6 CD4 CD8A HSPD1 IFNG IFNGR2
7 liver/biliary system MP:0005370 10.08 IFNG IL10 IL2 IL4 LTA MLLT1
8 neoplasm MP:0002006 10.05 IFNG IL10 IL2 MLLT1 SDHD TLR2
9 digestive/alimentary MP:0005381 10.03 CD4 IFNG IL10 IL18 IL2 IL4
10 respiratory system MP:0005388 9.86 HSPD1 IFNG IL10 IL2 IL4 LTA
11 mortality/aging MP:0010768 9.8 CD4 CD8A HSPD1 IFNG IL10 IL18
12 integument MP:0010771 9.32 CD4 CD8A HSPD1 IFNG IL10 IL18

Drugs & Therapeutics for Lepromatous Leprosy

Drugs for Lepromatous Leprosy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clofazimine Approved, Investigational Phase 4 2030-63-9 2794
2 Vitamins Phase 4
3 Anti-Bacterial Agents Phase 4
4 Anti-Infective Agents Phase 4
5 Anti-Inflammatory Agents Phase 4
6
Acetylcholine Approved, Investigational 51-84-3 187
7
Nitroprusside Approved, Investigational 15078-28-1 11963622
8
Nitric Oxide Approved 10102-43-9 145068
9 Neurotransmitter Agents
10 Antihypertensive Agents
11 Vasodilator Agents
12 Pharmaceutical Solutions
13 Cholinergic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Additional Clofazimine on ENL Reactions in Leprosy Completed NCT01290744 Phase 4 Clofazimine;Placebo
2 Observation of Microcirculation Impairment in Patients With Lepromatous Leprosy Using Orthogonal Polarization Spectral (OPS) Imaging and Laser Doppler Iontophoresis Completed NCT02085317 acetylcholine Iontophoresis;sodium nitroprusside Iontophoresis

Search NIH Clinical Center for Lepromatous Leprosy

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


Clofazimine
Dapsone

Cochrane evidence based reviews: leprosy, lepromatous

Genetic Tests for Lepromatous Leprosy

Anatomical Context for Lepromatous Leprosy

Organs/tissues related to Lepromatous Leprosy:

MalaCards : Skin, T Cells, Thymus, Lymph Node, Myeloid, Bone Marrow, Monocytes

Publications for Lepromatous Leprosy

Articles related to Lepromatous Leprosy:

(show top 50) (show all 2666)
# Title Authors PMID Year
1
Abnormalities in intracellular processing and expression of interferon-gamma receptor in adherent cells from lepromatous leprosy patients. 53 62
20039824 2010
2
Influence of TNF and IL10 gene polymorphisms in the immunopathogenesis of leprosy in the south of Brazil. 53 62
19058987 2009
3
Tryptophan aspartate-containing coat protein (CORO1A) suppresses Toll-like receptor signalling in Mycobacterium leprae infection. 53 62
19438603 2009
4
Recovery of IFN-gamma levels in PBMCs from lepromatous leprosy patients through the synergistic actions of the cytokines IL-12 and IL-18. 53 62
18708162 2008
5
Inhibition of apoptosis, activation of NKT cell and upregulation of CD40 and CD40L mediated by M. leprae antigen(s) combined with Murabutide and Trat peptide in leprosy patients. 53 62
18008143 2008
6
TLR2 Arg677Trp polymorphism in leprosy: revisited. 53 62
15726416 2005
7
Differential production of interleukin-10 and interleukin-12 in mononuclear cells from leprosy patients with a Toll-like receptor 2 mutation. 53 62
15270740 2004
8
High frequency of polymorphism Arg753Gln of the Toll-like receptor-2 gene detected by a novel allele-specific PCR. 53 62
12743710 2003
9
Cutting edge: a Toll-like receptor 2 polymorphism that is associated with lepromatous leprosy is unable to mediate mycobacterial signaling. 53 62
12646604 2003
10
A polymorphism in the toll-like receptor 2 is associated with IL-12 production from monocyte in lepromatous leprosy. 53 62
12445799 2002
11
Signaling lymphocytic activation molecule expression and regulation in human intracellular infection correlate with Th1 cytokine patterns. 53 62
11698444 2001
12
Detection of Toll-like receptor 2 (TLR2) mutation in the lepromatous leprosy patients. 53 62
11476982 2001
13
The effect of antigen presenting cells on the cytokine profiles of stable and reactional lepromatous leprosy patients. 53 62
11163869 2000
14
Dysregulation of IL-4 expression in lepromatous leprosy patients with and without erythema nodosum leprosum. 53 62
11201870 2000
15
Co-stimulatory signals increase the reactivity of gammadelta T cells towards mycobacterial antigens. 53 62
10844525 2000
16
Immunological cytokine correlates of protective immunity and pathogenesis in leprosy. 53 62
10736116 2000
17
Cytokine mRNA expression in leprosy: a possible role for interferon-gamma and interleukin-12 in reactions (RR and ENL). 53 62
10564558 1999
18
Addiction of anti-CD28 antibodies restores PBMC proliferation and IFN-gamma production in lepromatous leprosy patients. 53 62
10574615 1999
19
Serum IL-1ra is elevated in lepromatous leprosy patients. 53 62
10575408 1999
20
Immunochemotherapy with interferon-gamma and multidrug therapy for multibacillary leprosy. 53 62
10206118 1999
21
Lepromatous leprosy patients show T helper 1-like cytokine profile with differential expression of interleukin-10 during type 1 and 2 reactions. 53 62
9893041 1998
22
Cytokines in leprosy, I. Serum cytokine profile in leprosy. 53 62
9802682 1998
23
Rare transcripts of interferon-gamma detected in lepromatous leprosy cases. 53 62
9614846 1998
24
Production of host-protective (IFN-gamma), host-impairing (IL-10, IL-13) and inflammatory (TNF-alpha) cytokines by PBMC from leprosy patients stimulated with mycobacterial antigens. 53 62
9649657 1998
25
Recombinant interleukin-2 in lepromatous leprosy lesions: immunological and microbiological consequences. 53 62
9425693 1997
26
Effect of phorbol myristate acetate (PMA) and ionophore A23187 on interleukin-2 levels and proliferation of activated T lymphocytes from patients with lepromatous leprosy. 53 62
9207756 1997
27
Ability of lymphokine-activated killer cells to lyse mycobacteria-infected cells. 53 62
9447253 1997
28
Restoration of proliferative response to M. leprae antigens in lepromatous T cells against candidate antileprosy vaccines. 53 62
8862259 1996
29
Monocyte derived IL 10 and PGE2 are associated with the absence of Th 1 cells and in vitro T cell suppression in lepromatous leprosy. 53 62
8719110 1995
30
Does thalidomide affect IL-2 response and production? 53 62
7635184 1995
31
IL-12 inhibits IL-4 synthesis in keyhole limpet hemocyanin-primed CD4+ T cells through an effect on antigen-presenting cells. 53 62
7876534 1995
32
Interferon-gamma and host antimicrobial defense: current and future clinical applications. 53 62
7977435 1994
33
Definition of a human suppressor T-cell epitope. 53 62
7524076 1994
34
Clinical applications of cytokines. 53 62
7971820 1994
35
Th1-Th2 paradigm: insights from leprosy. 53 62
8006444 1994
36
Development of giant reaction in response to PPD skin test in lepromatous leprosy patients. 53 62
8371029 1993
37
Effect of recombinant interferon gamma administration on lesional monocytes/macrophages in lepromatous leprosy patients. 53 62
8396615 1993
38
Analysis of cytokine production by Mycobacterium-reactive T cells. Failure to explain Mycobacterium leprae-specific nonresponsiveness of peripheral blood T cells from lepromatous leprosy patients. 53 62
8482851 1993
39
Lepromatous leprosy treated with recombinant interferon gamma: cutaneous histologic changes. 53 62
1428437 1992
40
Mycobacteria contain two groEL genes: the second Mycobacterium leprae groEL gene is arranged in an operon with groES. 53 62
1354834 1992
41
Prolonged treatment with recombinant interferon gamma induces erythema nodosum leprosum in lepromatous leprosy patients. 53 62
1588290 1992
42
Long-term follow up of lepromatous leprosy patients receiving intralesional recombinant gamma-interferon. 53 62
1602206 1992
43
Rational immunotherapy with interleukin 2. 53 62
1368227 1992
44
Leprosy. 53 62
1730174 1992
45
Stigma variations: observations on suppressor T cells and leprosy. 53 62
1534241 1992
46
Delipidified cell components of Mycobacterium leprae and its applications. 53 62
1804891 1991
47
The systemic influence of recombinant interleukin 2 on the manifestations of lepromatous leprosy. 53 62
2007862 1991
48
In vivo administration of low-dose human interleukin-2 induces lymphokine-activated killer cells for enhanced cytolysis in vitro. 53 62
1988157 1991
49
Widespread intradermal accumulation of mononuclear leukocytes in lepromatous leprosy patients treated systemically with recombinant interferon gamma. 53 62
2121891 1990
50
Immunohistologic assessment of cytokine production of infiltrating cells in various forms of leprosy. 53 62
2121040 1990

Variations for Lepromatous Leprosy

Expression for Lepromatous Leprosy

Search GEO for disease gene expression data for Lepromatous Leprosy.

Pathways for Lepromatous Leprosy

Pathways related to Lepromatous Leprosy according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 CCR6 CD1B CD4 CD8A IFNG IFNGR2
2
Show member pathways
13.67 TNF LTA IL4 IL2 IL1RN IL18
3
Show member pathways
13.57 TNF LTA IL4 IL2 IL18 IL10
4
Show member pathways
13.47 TNF TLR2 TLR1 LTA IL4 IL2
5
Show member pathways
13.36 CD4 IFNG IFNGR2 IL10 IL18 IL1RN
6
Show member pathways
13.34 TNF LTA IL4 IL2 IL18 IL10
7
Show member pathways
12.72 TNF TLR2 TLR1 LTA IL2
8
Show member pathways
12.71 TNF LTA IL4 IL2 IL18 IL10
9
Show member pathways
12.65 CD4 IFNG IL10 IL18 IL2 TNF
10 12.57 TNF TLR2 TLR1 IL4 IL2 IL1RN
11
Show member pathways
12.51 TNF TLR2 TLR1 IL18
12
Show member pathways
12.49 TNF TLR2 TLR1 IL4 IL1RN IFNGR2
13
Show member pathways
12.32 TLR2 TLR1 CD4 CCR6
14 12.27 TNF TLR2 TLR1 IFNGR2 IFNG
15
Show member pathways
12.22 TNF IL4 IL2 IFNG
16 12.2 TNF IL1RN IL10 HSPD1
17 12.19 TNF LTA IL4 IL10 IFNGR2 IFNG
18
Show member pathways
12.15 TNF LTA IL4 IL2 IL10 IFNG
19
Show member pathways
12.07 LTA IL4 IL2 IFNG
20 12.05 TNF IL4 IL2 IFNG
21
Show member pathways
12.05 IL4 IL2 IL18 IFNG CD8A CD4
22 12.04 TNF IL4 IL2 IL10 IFNG CD8A
23 12.01 TNF IL4 IL18 IL10
24 11.98 TNF IL4 IL2 IL10 IFNG
25
Show member pathways
11.97 CD4 IFNG IL4 TLR1 TLR2
26
Show member pathways
11.88 IFNG IFNGR2 LTA TNF
27 11.84 IL2 IL10 IFNG CD4
28 11.84 TNF IL2 IL10 IFNG CD8A CD4
29 11.83 TNF IL4 IL2 IL10 IFNG
30 11.8 IL4 IL2 IFNG CD4
31 11.8 IL4 IL2 IL10 IFNG
32 11.78 IL4 IL2 IFNG
33
Show member pathways
11.78 TNF IL4 IL2 IFNG
34
Show member pathways
11.69 TNF IL2 IFNG
35 11.68 TNF LTA IL10
36 11.66 LTA IL4 IL10
37 11.62 TNF TLR2 IL18 IFNG
38 11.61 TNF IL1RN IL18 IL10
39 11.6 IL4 IL2 IL10 IFNG CD4
40 11.58 TNF IFNGR2 IFNG
41 11.56 TNF LTA IL4 IL2 IL18 IL10
42
Show member pathways
11.49 TNF IL2 IL10 IFNG
43
Show member pathways
11.47 TNF TLR2 IL4 IL2 IL18 IL10
44 11.46 TNF IL4 IL2 IL18 IL10 IFNGR2
45 11.43 TNF IL4 IL18 IFNG
46 11.39 IFNG IL2 IL4
47 11.34 IL2 IL18 IFNG CD4
48 11.34 IFNG IL10 IL2 IL4 TNF
49
Show member pathways
11.32 TNF TLR2 TLR1 LTA IL2 IL18
50 11.29 LTA IL4 IL2 IL10 IFNG

GO Terms for Lepromatous Leprosy

Cellular components related to Lepromatous Leprosy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.7 TNF TLR2 TLR1 LILRA2 IFNGR2 CD8A
2 plasma membrane GO:0005887 9.7 TNF TLR2 TLR1 LILRA2 IFNGR2 CD8A
3 Toll-like receptor 1-Toll-like receptor 2 protein complex GO:0035354 9.26 TLR2 TLR1

Biological processes related to Lepromatous Leprosy according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.4 TNF TLR2 TLR1 LTA LILRA2 IL4
2 defense response to Gram-positive bacterium GO:0050830 10.23 TNF TLR2 LTA IL18
3 positive regulation of tumor necrosis factor production GO:0032760 10.22 TLR2 TLR1 LILRA2 IFNG
4 positive regulation of interleukin-8 production GO:0032757 10.15 TNF TLR2 TLR1 LILRA2
5 positive regulation of interleukin-12 production GO:0032735 10.14 TLR2 IFNG HSPD1
6 humoral immune response GO:0006959 10.13 TNF LTA IFNG CCR6
7 positive regulation of inflammatory response GO:0050729 10.13 IFNG IL18 IL2 TLR2 TNF
8 positive regulation of interleukin-10 production GO:0032733 10.12 HSPD1 IL4 TLR2
9 lipopolysaccharide-mediated signaling pathway GO:0031663 10.11 TNF TLR2 IL18
10 immune system process GO:0002376 10.08 TLR2 TLR1 LILRA2 IL2 CD8A CD4
11 T cell activation GO:0042110 10.08 IL4 HSPD1 CD8A CD4
12 positive regulation of chemokine production GO:0032722 10.06 TNF TLR2 IL18 IFNG
13 MyD88-dependent toll-like receptor signaling pathway GO:0002755 10.03 HSPD1 TLR1 TLR2
14 positive regulation of type II interferon production GO:0032729 10.02 HSPD1 IL18 IL2 LTA TNF
15 positive regulation of NMDA glutamate receptor activity GO:1904783 9.97 IFNGR2 IFNG
16 positive regulation of tissue remodeling GO:0034105 9.97 IL2 IL18
17 positive regulation of MHC class II biosynthetic process GO:0045348 9.97 IFNG IL10 IL4
18 positive regulation of humoral immune response mediated by circulating immunoglobulin GO:0002925 9.96 TNF LTA
19 positive regulation of mononuclear cell migration GO:0071677 9.96 TNF IL4
20 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.96 TNF IL4 IL2 IL18 IFNG
21 cellular response to bacterial lipopeptide GO:0071221 9.95 TLR2 TLR1
22 negative regulation of cytokine production involved in immune response GO:0002719 9.95 TNF IL10
23 regulation of isotype switching GO:0045191 9.93 IL4 IL10
24 positive regulation of interleukin-6 production GO:0032755 9.93 TNF TLR2 TLR1 LILRA2 IFNG HSPD1
25 positive regulation of nitrogen compound metabolic process GO:0051173 9.92 IFNG TNF
26 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.91 IFNG TNF
27 cellular response to triacyl bacterial lipopeptide GO:0071727 9.91 TLR1 TLR2
28 cell activation GO:0001775 9.91 TLR1 TLR2 TNF
29 positive regulation of plasma cell differentiation GO:1900100 9.9 IL10 IL2
30 positive regulation of vitamin D biosynthetic process GO:0060557 9.89 TNF IFNG
31 detection of triacyl bacterial lipopeptide GO:0042495 9.88 TLR2 TLR1
32 positive regulation of chronic inflammatory response to antigenic stimulus GO:0002876 9.88 TNF LTA
33 chronic inflammatory response to antigenic stimulus GO:0002439 9.87 TNF IL10
34 type 2 immune response GO:0042092 9.85 IL4 IL18 IL10
35 immune response GO:0006955 9.66 TNF TLR2 TLR1 LTA IL4 IL2
36 microglial cell activation GO:0001774 9.65 IFNG IFNGR2 IL4 TLR2 TNF

Molecular functions related to Lepromatous Leprosy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 9.85 TLR2 TLR1 LILRA2 CD4 CCR6
2 cytokine activity GO:0005125 9.53 TNF LTA IL4 IL2 IL1RN IL18
3 lipopeptide binding GO:0071723 9.35 TLR2 TLR1 CD1B

Sources for Lepromatous Leprosy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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