LPRS3
MCID: LPR021
MIFTS: 63

Leprosy 3 (LPRS3)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Immune diseases, Infectious diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Leprosy 3

MalaCards integrated aliases for Leprosy 3:

Name: Leprosy 3 58 30 6
Leprosy 58 12 77 26 60 45 15 17 74 3
Leprosy, Susceptibility to 58 13
Infection Due to Mycobacterium Leprae 26
Leprosy, Susceptibility to, 3 58
Hansen's Disease 26
Leprosy, Type 3 41
Hansen Disease 26
Lprs3 58

Characteristics:

Orphanet epidemiological data:

60
leprosy
Inheritance: Multigenic/multifactorial; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: any age;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
see for a discussion on leprosy susceptibility



Classifications:



External Ids:

Disease Ontology 12 DOID:1024
OMIM 58 246300
ICD9CM 36 030 030.9
MeSH 45 D007918
NCIt 51 C84824
SNOMED-CT 69 81004002
ICD10 34 A30 A30.9
MESH via Orphanet 46 D007918
UMLS via Orphanet 75 C0023343
Orphanet 60 ORPHA548
MedGen 43 C1968668
SNOMED-CT via HPO 70 258211005 263681008
UMLS 74 C0023343

Summaries for Leprosy 3

Genetics Home Reference : 26 Leprosy, also called Hansen disease, is a disorder known since ancient times. It is caused by bacteria called Mycobacterium leprae and is contagious, which means that it can be passed from person to person. It is usually contracted by breathing airborne droplets from affected individuals' coughs and sneezes, or by coming into contact with their nasal fluids. However, it is not highly transmissible, and approximately 95 percent of individuals who are exposed to Mycobacterium leprae never develop leprosy. The infection can be contracted at any age, and signs and symptoms can take anywhere from several months to 20 years to appear.

MalaCards based summary : Leprosy 3, also known as leprosy, is related to borderline leprosy and tuberculoid leprosy, and has symptoms including sensory loss, skin lesions and motor loss. An important gene associated with Leprosy 3 is TLR2 (Toll Like Receptor 2), and among its related pathways/superpathways are Toll-like Receptor Signaling Pathway and Allograft rejection. Affiliated tissues include skin, superficial peripheral nerves and mucous membranes of the upper respiratory tract, and related phenotypes are abnormality of the immune system and cellular

Disease Ontology : 12 A primary bacterial infectious disease that results in infection located in superficial peripheral nerves, located in skin, located in mucous membranes of the upper respiratory tract, located in anterior chamber of the eyes, or located in testes, has material basis in Mycobacterium leprae, which is transmitted by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has symptom skin lesions, has symptom sensory loss, has symptom motor loss and has symptom eye damage.

Wikipedia : 77 Leprosy, also known as Hansen''s disease (HD), is a long-term infection by the bacteria Mycobacterium... more...

Description from OMIM: 246300

Related Diseases for Leprosy 3

Diseases in the Leprosy 3 family:

Leprosy 2 Leprosy 1
Leprosy 4 Leprosy 5
Leprosy 6

Diseases related to Leprosy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 507)
# Related Disease Score Top Affiliating Genes
1 borderline leprosy 34.7 MLLT1 SDHD
2 tuberculoid leprosy 34.6 IFNG IL10 MLLT1 SDHD
3 buruli ulcer 32.7 IFNG IL10 SLC11A1
4 leishmaniasis 31.0 IFNG IL10 SLC11A1 TLR2 TNF
5 peripheral nervous system disease 30.7 MLLT1 SDHD TNF
6 arthritis 30.6 IFNG IL10 LACC1 NOD2 TNF
7 cutaneous leishmaniasis 30.6 IFNG IL10 SLC11A1 TLR2 TNF
8 tetanus 30.5 IFNG IL10 IL2
9 human immunodeficiency virus infectious disease 30.5 IFNG IL10 IL2 TNF
10 erythema multiforme 30.5 IFNG IL2 TNF
11 filariasis 30.5 IFNG IL10 IL2 TLR2 TNF
12 malaria 30.4 IFNG IL10 IL2 TLR2 TNF
13 variola major 30.4 IFNG IL2
14 multidrug-resistant tuberculosis 30.4 IL10 SLC11A1 TNF
15 sarcoidosis 1 30.4 IFNG IL2 NOD2 SLC11A1 TNF
16 pulmonary tuberculosis 30.3 IFNG IL10 IL2 SLC11A1 TLR2 TNF
17 smallpox 30.3 IFNG IL12RB2 IL2 TNF
18 poliomyelitis 30.2 IFNG IL10 TNF
19 lyme disease 30.2 HSPD1 TLR2 TNF
20 uveitis 30.2 IFNG IL10 NOD2 TNF
21 herpes zoster 30.2 IFNG IL10 IL2
22 contact dermatitis 30.2 IFNG IL10 TNF
23 oral tuberculosis 30.2 IL2 TNF
24 melioidosis 30.1 IFNG IL10 TLR2 TNF
25 aspergillosis 30.1 IFNG IL10 TLR2 TNF
26 chagas disease 30.1 IFNG IL10 IL2 TLR2 TNF
27 acquired immunodeficiency syndrome 30.1 IFNG IL10 IL2 TNF
28 lymphadenitis 30.1 IFNG IL10 NOD2 SLC11A1 TNF
29 visceral leishmaniasis 30.0 IFNG IL10 IL2 SLC11A1 TLR2 TNF
30 rheumatic fever 30.0 IL10 IL2 TNF
31 trachoma 30.0 HSPD1 IL10 TNF
32 sporotrichosis 30.0 IFNG IL10
33 crohn's disease 30.0 IL10 IL12RB2 LACC1 NOD2 SLC11A1 TNF
34 keratoconjunctivitis 30.0 IFNG IL2 TNF
35 alopecia areata 30.0 IFNG IL2 TNF
36 allergic contact dermatitis 29.9 IFNG IL10 TNF
37 rheumatic disease 29.9 IFNG IL10 TNF
38 rheumatoid arthritis 29.9 IFNG IL10 IL2 LACC1 SLC11A1 TLR2
39 osteomyelitis 29.9 IFNG IL10 TNF
40 echinococcosis 29.9 IFNG IL10 TLR2 TNF
41 meningitis 29.9 IFNG IL10 TLR2 TNF
42 mycobacterium tuberculosis 1 29.9 HSPD1 HSPE1 IFNG IL10 SLC11A1 TLR2
43 schistosomiasis 29.9 IFNG IL10 IL2 TNF
44 myasthenia gravis 29.9 IFNG IL10 IL2 TNF
45 connective tissue disease 29.9 HSPD1 IFNG IL10 TNF
46 demyelinating disease 29.8 IFNG IL10 TNF
47 paracoccidioidomycosis 29.8 IFNG IL10 IL2 TLR2 TNF
48 lepromatous leprosy 29.8 IFNG IL10 IL12RB2 IL2 TLR2 TNF
49 trypanosomiasis 29.8 IFNG IL10 IL2 TLR2 TNF
50 granulomatous dermatitis 29.7 NOD2 TNF

Comorbidity relations with Leprosy 3 via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Leprosy 3:



Diseases related to Leprosy 3

Symptoms & Phenotypes for Leprosy 3

Human phenotypes related to Leprosy 3:

33
# Description HPO Frequency HPO Source Accession
1 abnormality of the immune system 33 HP:0002715

Symptoms via clinical synopsis from OMIM:

58
Immunology:
susceptibility to infection by mycobacterium leprae causing leprosy

Clinical features from OMIM:

246300

Symptoms:

12
  • sensory loss
  • skin lesions
  • motor loss
  • eye damage

MGI Mouse Phenotypes related to Leprosy 3:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.21 HSPD1 IFNG IL10 IL2 LACC1 LRRK2
2 behavior/neurological MP:0005386 10.2 CCDC122 HSPD1 IFNG IL10 IL2 LRRK2
3 hematopoietic system MP:0005397 10.15 IFNG IL10 IL12RB2 IL2 LACC1 LRRK2
4 homeostasis/metabolism MP:0005376 10.06 IFNG IL10 IL12RB2 IL2 LACC1 LRRK2
5 digestive/alimentary MP:0005381 10.01 IFNG IL10 IL12RB2 IL2 NOD2 SLC11A1
6 immune system MP:0005387 10 IFNG IL10 IL12RB2 IL2 LACC1 LRRK2
7 liver/biliary system MP:0005370 9.7 IFNG IL10 IL12RB2 IL2 MLLT1 TLR2
8 neoplasm MP:0002006 9.61 IFNG IL10 IL12RB2 IL2 MLLT1 SDHD
9 respiratory system MP:0005388 9.17 IFNG IL10 IL2 LRRK2 PRKN TLR2

Drugs & Therapeutics for Leprosy 3

Search Clinical Trials , NIH Clinical Center for Leprosy 3

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: leprosy

Genetic Tests for Leprosy 3

Genetic tests related to Leprosy 3:

# Genetic test Affiliating Genes
1 Leprosy 3 30 TLR2

Anatomical Context for Leprosy 3

The Foundational Model of Anatomy Ontology organs/tissues related to Leprosy 3:

20
Skin, Superficial Peripheral Nerves, Mucous Membranes Of The Upper Respiratory Tract, Anterior Chamber Of The Eyes, Testes

MalaCards organs/tissues related to Leprosy 3:

42
Skin, Testes, Eye, T Cells, Bone, Liver, B Cells

Publications for Leprosy 3

Articles related to Leprosy 3:

(show top 50) (show all 1941)
# Title Authors Year
1
Trichoscopic findings of eyebrow alopecia in patients with multibacillary leprosy. ( 30613952 )
2019
2
Lucio Phenomenon mimicking antiphospholipid syndrome: the occurrence of antiphospholipid antibodies in a leprosy patient. ( 30666664 )
2019
3
Mycobacterium lepromatosis Lepromatous Leprosy in US Citizen Who Traveled to Disease-Endemic Areas. ( 30666944 )
2019
4
Does histoid leprosy represent a locally hyperimmune variant of lepromatous leprosy? ( 30778548 )
2019
5
Lepromatous leprosy masquerading as anetoderma in a boy. ( 30829294 )
2019
6
Borderline lepromatous leprosy masking as tinea versicolor. ( 30891732 )
2019
7
Increased CD5+ B-cells are associated with autoimmune phenomena in lepromatous leprosy patients. ( 30904499 )
2019
8
Visibly enlarged peripheral nerves in lepromatous leprosy. ( 30910939 )
2019
9
Neurosurgical treatment of leprosy neuropathy in a low-incidence, European country. ( 30903414 )
2019
10
Verrucous carcinoma on the foot arising in a chronic neuropathic ulcer of leprosy. ( 30841011 )
2019
11
Unusual association of leprosy with Lucio phenomenon with secondary antiphospholipid antibody syndrome and ischemic stroke. ( 30688250 )
2019
12
Comment on "Ichthyosiform sarcoidosis: a mimic of leprosy?" ( 30822369 )
2019
13
Reply to comment on "Ichthyosiform sarcoidosis: a mimic of leprosy?" ( 30903704 )
2019
14
Alternate Anti-Leprosy Regimen for Multidrug Therapy Refractory Leprosy: A Retrospective Study from a Tertiary Care Center in North India. ( 30298809 )
2019
15
Leprosy services in primary health care in India: comparative economic cost analysis of two public-health settings. ( 30444947 )
2019
16
Wide Awake Tendon Transfers in Leprosy Patients in India. ( 30470333 )
2019
17
Detection of Mycobacterium lepromatosis in patients with leprosy in India [Retraction]. ( 30613155 )
2019
18
Performance of serological tests PGL1 and NDO-LID in the diagnosis of leprosy in a reference Center in Brazil. ( 30616580 )
2019
19
Leprosy survey among rural communities and wild armadillos from Amazonas state, Northern Brazil. ( 30629624 )
2019
20
Notch signaling induces lymphoproliferation, T helper cell activation and Th1/Th2 differentiation in leprosy. ( 30629982 )
2019
21
Community knowledge, attitude, and perceived stigma of leprosy amongst community members living in Dhanusha and Parsa districts of Southern Central Nepal. ( 30633780 )
2019
22
Transcription factors STAT-4, STAT-6 and CREB regulate Th1/Th2 response in leprosy patients: effect of M. leprae antigens. ( 30642265 )
2019
23
Involvement of TNF-Producing CD8+ Effector Memory T Cells with Immunopathogenesis of Erythema Nodosum Leprosum in Leprosy Patients. ( 30652669 )
2019
24
Survival of Mycobacterium leprae and association with Acanthamoeba from environmental samples in the inhabitant areas of active leprosy cases: A cross sectional study from endemic pockets of Purulia, West Bengal. ( 30658215 )
2019
25
Analysis of the rs2476601 polymorphism of PTPN22 in Mexican mestizo patients with leprosy. ( 30675352 )
2019
26
'Antimicrobial resistance in leprosy: results of the first prospective open survey conducted by a WHO surveillance network for the period 2009-2015' - Author's reply. ( 30682406 )
2019
27
Differential immunoglobulin and complement levels in leprosy prior to development of reversal reaction and erythema nodosum leprosum. ( 30689631 )
2019
28
Assessing the Impact of the Twin Track Socio-Economic Intervention on Reducing Leprosy-Related Stigma in Cirebon District, Indonesia. ( 30691157 )
2019
29
Picturing health: a new face for leprosy. ( 30691701 )
2019
30
The mystery of 'saturation gap': a case of dapsone-induced methaemoglobinemia in a pregnant mother with leprosy. ( 30697428 )
2019
31
When amplified Mycobacterium tuberculosis direct (MTD) testing confuses leprosy diagnosis: A case report. ( 30705932 )
2019
32
Chronic aspects of leprosy-neglected but important. ( 30715525 )
2019
33
Abandoning the stigma of leprosy. ( 30722951 )
2019
34
"If you will counsel properly with love, they will listen": A qualitative analysis of leprosy affected patients' educational needs and caregiver perceptions in Nepal. ( 30726259 )
2019
35
Spatial approach of leprosy in the State of São Paulo, 2009-2012. ( 30726461 )
2019
36
Erythroderma as a manifestation of leprosy. ( 30726471 )
2019
37
Plantar ulcer occurrence among leprosy patients in Northern Nigeria: A study of contributing factors. ( 30729926 )
2019
38
Brain and Spinal Cord Lesions in Leprosy: A Magnetic Resonance Imaging-Based Study. ( 30761984 )
2019
39
Correspondence to histoid leprosy: a retrospective clinicopathological study from central Nepal. ( 30773622 )
2019
40
British Red Squirrels Remain the Only Known Wild Rodent Host for Leprosy Bacilli. ( 30775369 )
2019
41
De novo histoid leprosy in a Colombian patient with multiple skin nodules on the ears and extremities. ( 30785530 )
2019
42
Risk factors for physical disability upon release from multidrug therapy in new cases of leprosy at a referral center in Brazil. ( 30785567 )
2019
43
A 10-year Retrospective Descriptive Study on Pure Neuritic Leprosy from a Tertiary Referral Centre. ( 30788282 )
2019
44
Leprosy in a Midwestern Dermatology Clinic: Report of 9 Patients. ( 30799052 )
2019
45
Comment on "Bullous Erythema Nodosum Leprosum as the First Manifestation of Multibacillary Leprosy: A Rare Phenomenon". ( 30801346 )
2019
46
Umbilicated Lesions in a de novo case of histoid leprosy. ( 30821419 )
2019
47
Transepidermal elimination: Role in leprosy transmission. ( 30829298 )
2019
48
Quantitative polymerase chain reaction in paucibacillary leprosy diagnosis: A follow-up study. ( 30835722 )
2019
49
Evaluation of the cutaneous sensation of the face in patients with different clinical forms of leprosy. ( 30870498 )
2019
50
Development and evaluation of a droplet digital PCR assay for the diagnosis of paucibacillary leprosy in skin biopsy specimens. ( 30883558 )
2019

Variations for Leprosy 3

ClinVar genetic disease variations for Leprosy 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TLR2 NM_003264.4(TLR2): c.2029C> T (p.Arg677Trp) single nucleotide variant risk factor rs121917864 GRCh37 Chromosome 4, 154626088: 154626088
2 TLR2 NM_003264.4(TLR2): c.2029C> T (p.Arg677Trp) single nucleotide variant risk factor rs121917864 GRCh38 Chromosome 4, 153704936: 153704936

Copy number variations for Leprosy 3 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 255081 9 72339785 73251640 Duplication TRPM3 Leprosy

Expression for Leprosy 3

Search GEO for disease gene expression data for Leprosy 3.

Pathways for Leprosy 3

Pathways related to Leprosy 3 according to GeneCards Suite gene sharing:

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 IFNG IL10 IL2 NOD2 TLR2 TNF
2
Show member pathways
12.74 HSPD1 IFNG IL10 IL12RB2 IL2 LRRK2
3
Show member pathways
12.56 IFNG IL10 IL12RB2 IL2 TNF
4 12.48 IFNG IL10 IL2 TLR2 TNF
5
Show member pathways
12.35 IFNG IL10 IL2 TNF
6
Show member pathways
12.34 IFNG IL10 IL12RB2 IL2 NOD2 TLR2
7
Show member pathways
12.2 IFNG IL10 TLR2 TNF
8 12.09 HSPD1 IL10 MBD1 TNF
9
Show member pathways
11.95 HSPD1 IFNG TLR2 TNF
10 11.89 IFNG IL10 IL2 TNF
11 11.78 IFNG TLR2 TNF
12 11.78 IFNG IL10 IL12RB2 IL2
13 11.78 IFNG IL10 TLR2 TNF
14
Show member pathways
11.69 IFNG IL2 TNF
15 11.69 HSPD1 IFNG IL10 NOD2 TLR2 TNF
16 11.65 IFNG IL10 IL2 TNF
17
Show member pathways
11.61 IFNG IL2 TNF
18
Show member pathways
11.59 IFNG IL2 TNF
19 11.59 IFNG IL10 IL2 TNF
20 11.53 HSPD1 TLR2 TNF
21 11.48 IFNG IL2 TNF
22 11.46 IFNG IL10 IL12RB2 IL2 TNF
23 11.45 IFNG IL2 TNF
24 11.44 IFNG TLR2 TNF
25 11.4 IFNG IL10 TLR2 TNF
26 11.33 IFNG IL10 IL12RB2 IL2
27 11.3 IFNG IL10 TNF
28
Show member pathways
11.21 IFNG IL10 IL12RB2 IL2 TLR2 TNF
29 11.1 IFNG IL10 IL2
30 11.09 IFNG IL10 IL2 TNF

GO Terms for Leprosy 3

Cellular components related to Leprosy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane raft GO:0045121 8.8 LRRK2 TLR2 TNF

Biological processes related to Leprosy 3 according to GeneCards Suite gene sharing:

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.99 IL10 IL12RB2 IL2 TNF
2 defense response to bacterium GO:0042742 9.95 IL10 NOD2 SLC11A1 TNF
3 immune response GO:0006955 9.95 IFNG IL10 IL2 SLC11A1 TLR2 TNF
4 positive regulation of protein phosphorylation GO:0001934 9.88 IFNG IL2 LRRK2 TNF
5 mitochondrion organization GO:0007005 9.85 HSPD1 LRRK2 PRKN
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.83 HSPD1 HSPE1 TNF
7 negative regulation of protein phosphorylation GO:0001933 9.82 IL2 LRRK2 PRKN
8 cellular response to organic cyclic compound GO:0071407 9.8 LRRK2 NOD2 TNF
9 positive regulation of MAP kinase activity GO:0043406 9.78 LRRK2 NOD2 TNF
10 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.73 NOD2 TLR2 TNF
11 interleukin-12-mediated signaling pathway GO:0035722 9.72 IFNG IL10 IL12RB2
12 negative regulation of growth of symbiont in host GO:0044130 9.68 IL10 TNF
13 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.68 IL10 TNF
14 cellular response to dopamine GO:1903351 9.68 LRRK2 PRKN
15 response to organic substance GO:0010033 9.67 IL10 TNF
16 positive regulation of interleukin-17 production GO:0032740 9.66 IL2 NOD2
17 positive regulation of protein import into nucleus, translocation GO:0033160 9.65 IFNG LRRK2
18 response to molecule of bacterial origin GO:0002237 9.65 IL10 TLR2
19 cellular response to manganese ion GO:0071287 9.64 LRRK2 PRKN
20 positive regulation of programmed cell death GO:0043068 9.63 LRRK2 TNF
21 positive regulation of interleukin-8 production GO:0032757 9.63 NOD2 TLR2 TNF
22 response to glucocorticoid GO:0051384 9.62 IL10 TNF
23 endothelial cell apoptotic process GO:0072577 9.62 IL10 TNF
24 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.59 NOD2 SLC11A1
25 protein localization to mitochondrion GO:0070585 9.58 LRRK2 PRKN
26 positive regulation of interleukin-12 production GO:0032735 9.58 HSPD1 IFNG TLR2
27 negative regulation of cytokine secretion involved in immune response GO:0002740 9.57 IL10 TNF
28 cytokine secretion involved in immune response GO:0002374 9.54 NOD2 TLR2
29 positive regulation of interleukin-10 production GO:0032733 9.54 HSPD1 NOD2 TLR2
30 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.52 IFNG TNF
31 receptor biosynthetic process GO:0032800 9.51 IL10 TNF
32 positive regulation of inflammatory response GO:0050729 9.5 IL2 TLR2 TNF
33 regulation of synaptic vesicle transport GO:1902803 9.49 LRRK2 PRKN
34 response to lipopolysaccharide GO:0032496 9.46 IL10 IL12RB2 SLC11A1 TLR2
35 positive regulation of vitamin D biosynthetic process GO:0060557 9.43 IFNG TNF
36 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.43 LRRK2 NOD2 TLR2
37 positive regulation of tumor necrosis factor secretion GO:1904469 9.37 LRRK2
38 positive regulation of interleukin-6 production GO:0032755 9.26 HSPD1 NOD2 TLR2 TNF
39 positive regulation of interferon-gamma production GO:0032729 9.02 HSPD1 IL12RB2 IL2 SLC11A1 TNF
40 positive regulation of transcription by RNA polymerase II GO:0045944 10.14 IL10 IL2 NOD2 PRKN SLC11A1 TLR2
41 positive regulation of gene expression GO:0010628 10.01 IFNG PRKN SLC11A1 TLR2 TNF

Molecular functions related to Leprosy 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 IFNG IL10 IL2 TNF
2 Hsp70 protein binding GO:0030544 9.13 NOD2 PACRG PRKN
3 chaperone binding GO:0051087 8.92 HSPD1 HSPE1 PACRG PRKN

Sources for Leprosy 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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