MCID: PNM002
MIFTS: 41

Pneumonic Tularemia

Categories: Infectious diseases, Respiratory diseases

Aliases & Classifications for Pneumonic Tularemia

MalaCards integrated aliases for Pneumonic Tularemia:

Name: Pneumonic Tularemia 12 15
Pulmonary Tularemia 12 70
Bronchopneumonic Tularemia 12
Pneumonic Tularaemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2122
ICD9CM 34 021.2
SNOMED-CT 67 186297007
ICD10 32 A21.2
UMLS 70 C0339946

Summaries for Pneumonic Tularemia

Disease Ontology : 12 A tularemia that is located in lungs. The bacteria are transmitted by breathing dusts or aerosols containing the organisms. The infection has symptom cough, has symptom chest has symptom pain, and has symptom difficulty breathing.

MalaCards based summary : Pneumonic Tularemia, also known as pulmonary tularemia, is related to chronic granulomatous disease and disease by infectious agent, and has symptoms including cough, pain and difficulty breathing. An important gene associated with Pneumonic Tularemia is CCR6 (C-C Motif Chemokine Receptor 6), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. Affiliated tissues include lungs, bone and lung, and related phenotypes are hematopoietic system and digestive/alimentary

Related Diseases for Pneumonic Tularemia

Diseases related to Pneumonic Tularemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 523)
# Related Disease Score Top Affiliating Genes
1 chronic granulomatous disease 29.8 TNF TLR5 IL1B IL17A
2 disease by infectious agent 28.8 TNF TLR4 TLR2 IL1B IL17A CD8A
3 tularemia 28.1 TNF TLR4 TLR2 SCGB1D1 MYD88 IL1B
4 cutaneous candidiasis 10.4 IL17A CCR6
5 neurosyphilis 10.4 TLR2 IL17A
6 oculoglandular tularemia 10.4 TLR2 CLPB
7 typhoidal tularemia 10.4 SCGB1D1 CLPB
8 fungal keratitis 10.3 TLR4 TLR2
9 enterocolitis 10.3 TNF TLR4
10 anaerobic pneumonia 10.3 TLR2 IL1B
11 haemophilus influenzae 10.3 TNF TLR2
12 nontuberculous mycobacterial lung disease 10.3 TNF TLR2
13 physiological polycythemia 10.3 TNF IL1B
14 chronic purulent otitis media 10.3 TLR4 TLR2
15 mycobacterium abscessus 10.2 TNF TLR2
16 staphylococcal toxic shock syndrome 10.2 TNF IL1B
17 pouchitis 10.2 TNF TLR4
18 spondylarthropathy 10.2 TNF TLR4
19 vulvar vestibulitis syndrome 10.2 TNF IL1B
20 kashin-beck disease 10.2 TNF IL1B
21 neisseria meningitidis infection 10.2 TLR4 TLR2
22 ulcer of lower limbs 10.2 TNF IL1B
23 renal infectious disease 10.2 TLR2 AIM2
24 cystic echinococcosis 10.2 TLR4 TLR2 IL17A
25 prosthetic joint infection 10.2 TLR4 TLR2 IL1B
26 autoimmune polyendocrine syndrome 10.2 IL1B IL17A CCR6
27 ocular toxoplasmosis 10.2 TLR5 IL17A
28 myelitis 10.2 TNF IL17A CCR6
29 pustulosis of palm and sole 10.2 TNF IL17A CCR6
30 actinic prurigo 10.2 TNF IL1B
31 nasopharyngitis 10.2 TNF IL17A CCR6
32 toxicodendron dermatitis 10.2 TNF CD8A
33 stachybotrys chartarum 10.2 TNF IL1B
34 bacterial conjunctivitis 10.2 TNF IL1B
35 transverse myelitis 10.2 TNF IL17A CCR6
36 suppurative lymphadenitis 10.2 CD4 CCR6
37 carbuncle 10.2 TNF IL1B
38 listeria meningitis 10.2 TNF CD8A
39 colonic benign neoplasm 10.2 TNF IL17A CCR6
40 ankylosis 10.2 TNF IL17A CCR6
41 herpes simplex virus keratitis 10.2 CD4 CCR6
42 mycoplasma pneumoniae pneumonia 10.2 TNF TLR2 IL17A
43 paratyphoid fever 10.2 TNF IL1B CCR6
44 histiocytosis 10.2 TNF IL17A CCR6
45 cystitis 10.1 TNF TLR4 IL17A
46 crohn's colitis 10.1 TNF IL1B CCR6
47 infective endocarditis 10.1 TNF TLR2 IL17A
48 endocarditis 10.1 TNF TLR2 IL17A
49 pulpitis 10.1 TNF IL1B CCR6
50 ureteral disease 10.1 TNF IL1B CCR6

Graphical network of the top 20 diseases related to Pneumonic Tularemia:



Diseases related to Pneumonic Tularemia

Symptoms & Phenotypes for Pneumonic Tularemia

Symptoms:

12
  • cough
  • pain
  • difficulty breathing
  • chest

MGI Mouse Phenotypes related to Pneumonic Tularemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 AIM2 CCR6 CD4 CD8A FTL IL17A
2 digestive/alimentary MP:0005381 9.7 CD4 IL17A MYD88 TLR2 TLR4 TLR5
3 immune system MP:0005387 9.4 AIM2 CCR6 CD4 CD8A FTL IL17A

Drugs & Therapeutics for Pneumonic Tularemia

Search Clinical Trials , NIH Clinical Center for Pneumonic Tularemia

Genetic Tests for Pneumonic Tularemia

Anatomical Context for Pneumonic Tularemia

The Foundational Model of Anatomy Ontology organs/tissues related to Pneumonic Tularemia:

19
Lungs

MalaCards organs/tissues related to Pneumonic Tularemia:

40
Bone, Lung, Skin, Bone Marrow, Lymph Node, Thymus, Liver

Publications for Pneumonic Tularemia

Articles related to Pneumonic Tularemia:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Proteomic Analysis of Human Immune Responses to Live-Attenuated Tularemia Vaccine. 61
32722207 2020
2
Production of Neutrophil Extracellular Traps Contributes to the Pathogenesis of Francisella tularemia. 61
32391009 2020
3
Development, Characterization, and Standardization of a Nose-Only Inhalation Exposure System for Exposure of Rabbits to Small-Particle Aerosols Containing Francisella tularensis. 61
31085702 2019
4
Nanoparticle Formulation of Moxifloxacin and Intramuscular Route of Delivery Improve Antibiotic Pharmacokinetics and Treatment of Pneumonic Tularemia in a Mouse Model. 61
30480992 2019
5
Retrospective Analysis of Pneumonic Tularemia in Operation Whitecoat Human Subjects: Disease Progression and Tetracycline Efficacy. 61
31696118 2019
6
Macrophage-targeted drugamers with enzyme-cleavable linkers deliver high intracellular drug dosing and sustained drug pharmacokinetics against alveolar pulmonary infections. 61
30099019 2018
7
The Cynomolgus Macaque Natural History Model of Pneumonic Tularemia for Predicting Clinical Efficacy Under the Animal Rule. 61
29670861 2018
8
Protection of vaccinated mice against pneumonic tularemia is associated with an early memory sentinel-response in the lung. 61
29102170 2017
9
First case of severe pneumonic tularemia in an immunocompetent patient in the Netherlands. 61
28956784 2017
10
Notes from the Field: Fatal Pneumonic Tularemia Associated with Dog Exposure - Arizona, June 2016. 61
28837551 2017
11
Outer membrane vesicle-associated lipase FtlA enhances cellular invasion and virulence in Francisella tularensis LVS. 61
28745311 2017
12
Atypical Presentations of Tularemia. 61
28813752 2017
13
Expansion and retention of pulmonary CD4+ T cells after prime boost vaccination correlates with improved longevity and strength of immunity against tularemia. 61
28372827 2017
14
The Natural History of Pneumonic Tularemia in Female Fischer 344 Rats after Inhalational Exposure to Aerosolized Francisella tularensis Subspecies tularensis Strain SCHU S4. 61
27939130 2017
15
Inflammasome-Independent NLRP3 Restriction of a Protective Early Neutrophil Response to Pulmonary Tularemia. 61
27926940 2016
16
Respiratory and oral vaccination improves protection conferred by the live vaccine strain against pneumonic tularemia in the rabbit model. 61
27511964 2016
17
Redox-Triggered Release of Moxifloxacin from Mesoporous Silica Nanoparticles Functionalized with Disulfide Snap-Tops Enhances Efficacy Against Pneumonic Tularemia in Mice. 61
27246117 2016
18
Francisella tularensis - Immune Cell Activator, Suppressor, or Stealthy Evader: The Evolving View from the Petri Dish. 61
27695643 2016
19
An Immature Myeloid/Myeloid-Suppressor Cell Response Associated with Necrotizing Inflammation Mediates Lethal Pulmonary Tularemia. 61
27015566 2016
20
Development of Liposomal Ciprofloxacin to Treat Lung Infections. 61
26938551 2016
21
F. novicida-Infected A. castellanii Does Not Enhance Bacterial Virulence in Mice. 61
27242974 2016
22
Mesoporous Silica Nanoparticles with pH-Sensitive Nanovalves for Delivery of Moxifloxacin Provide Improved Treatment of Lethal Pneumonic Tularemia. 61
26435204 2015
23
[Pulmonary tularemia]. 61
26183889 2015
24
An original case of Francisella tularensis subsp. holarctica bacteremia after a near-drowning accident. 61
25816922 2015
25
Border Patrol Gone Awry: Lung NKT Cell Activation by Francisella tularensis Exacerbates Tularemia-Like Disease. 61
26068662 2015
26
Pneumonic tularemia presenting with a vesicular eruption. 61
25942033 2015
27
Comparison of experimental respiratory tularemia in three nonhuman primate species. 61
25766142 2015
28
Production of anti-LPS IgM by B1a B cells depends on IL-1β and is protective against lung infection with Francisella tularensis LVS. 61
25768794 2015
29
Live attenuated Francisella novicida vaccine protects against Francisella tularensis pulmonary challenge in rats and non-human primates. 61
25340543 2014
30
Enhancement of vaccine efficacy by expression of a TLR5 ligand in the defined live attenuated Francisella tularensis subsp. novicida strain U112ΔiglB::fljB. 61
25050972 2014
31
The potential of liposome-encapsulated ciprofloxacin as a tularemia therapy. 61
24995163 2014
32
Immunotherapy for tularemia. 61
23959031 2013
33
Infection with Francisella tularensis LVS clpB leads to an altered yet protective immune response. 61
23529616 2013
34
Unusual presentatıon of oropharyngeal tularemıa: a case report. 61
23473220 2013
35
[Pulmonary tularemia: rare disease that can be interpreted as lung cancer. Serology provides the correct diagnosis, as shown by case reports]. 61
23951881 2013
36
Temporal transcriptional response during infection of type II alveolar epithelial cells with Francisella tularensis live vaccine strain (LVS) supports a general host suppression and bacterial uptake by macropinocytosis. 61
23322778 2013
37
PanG, a new ketopantoate reductase involved in pantothenate synthesis. 61
23243306 2013
38
Role of NK cells in host defense against pulmonary type A Francisella tularensis infection. 61
23211929 2013
39
Post-exposure immunization against Francisella tularensis membrane proteins augments protective efficacy of gentamicin in a mouse model of pneumonic tularemia. 61
22652404 2012
40
Perforin- and granzyme-mediated cytotoxic effector functions are essential for protection against Francisella tularensis following vaccination by the defined F. tularensis subsp. novicida ΔfopC vaccine strain. 61
22493083 2012
41
Comparison of bone marrow-derived and mucosal mast cells in controlling intramacrophage Francisella tularensis replication. 61
22688822 2012
42
Francisella tularensis inhibits the intrinsic and extrinsic pathways to delay constitutive apoptosis and prolong human neutrophil lifespan. 61
22357630 2012
43
Low dose vaccination with attenuated Francisella tularensis strain SchuS4 mutants protects against tularemia independent of the route of vaccination. 61
22662210 2012
44
Mucosal immunization with live attenuated Francisella novicida U112ΔiglB protects against pulmonary F. tularensis SCHU S4 in the Fischer 344 rat model. 61
23118885 2012
45
Development of tolerogenic dendritic cells and regulatory T cells favors exponential bacterial growth and survival during early respiratory tularemia. 61
21724804 2011
46
A Francisella tularensis locus required for spermine responsiveness is necessary for virulence. 61
21670171 2011
47
Features of sepsis caused by pulmonary infection with Francisella tularensis Type A strain. 61
21440052 2011
48
Antibodies contribute to effective vaccination against respiratory infection by type A Francisella tularensis strains. 61
21282410 2011
49
Survival of Francisella tularensis Type A in brackish-water. 61
21136042 2011
50
Alpha-1 antitrypsin is markedly decreased following pulmonary F. tularensis challenge. 61
22919586 2011

Variations for Pneumonic Tularemia

Expression for Pneumonic Tularemia

Search GEO for disease gene expression data for Pneumonic Tularemia.

Pathways for Pneumonic Tularemia

Pathways related to Pneumonic Tularemia according to GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.93 TNF TLR5 TLR4 TLR2 MYD88 IL1B
2
Show member pathways
13.36 TNF TLR5 TLR4 TLR2 MYD88 IL1B
3
Show member pathways
13.17 TNF TLR5 TLR4 TLR2 MYD88 IL1B
4
Show member pathways
12.95 TNF TLR4 TLR2 MYD88 IL1B CD4
5
Show member pathways
12.83 TNF IL1B IL17A CD8A CD4
6
Show member pathways
12.82 TNF TLR5 TLR4 TLR2 MYD88 IL1B
7
Show member pathways
12.8 TNF TLR4 TLR2 MYD88 IL1B
8
Show member pathways
12.76 TNF TLR5 TLR4 TLR2 MYD88 IL1B
9
Show member pathways
12.71 TNF TLR5 TLR4 TLR2 MYD88 IL1B
10
Show member pathways
12.58 TNF TLR5 TLR4 TLR2 MYD88 IL1B
11
Show member pathways
12.58 TNF TLR5 TLR4 TLR2 IL1B IL17A
12 12.54 TNF TLR2 MYD88 IL1B IL17A CD8A
13
Show member pathways
12.45 TLR4 TLR2 MYD88 CD8A
14 12.43 TNF TLR5 TLR4 MYD88 IL1B
15
Show member pathways
12.42 TNF TLR5 TLR4 TLR2 MYD88 IL1B
16
Show member pathways
12.4 TNF TLR4 TLR2 MYD88 IL1B IL17A
17
Show member pathways
12.38 TLR5 TLR4 TLR2 MYD88
18
Show member pathways
12.36 TNF TLR5 TLR2 IL1B IL17A
19
Show member pathways
12.32 TLR2 DEFB121 CD4 CCR6
20
Show member pathways
12.3 TNF TLR4 MYD88 IL1B
21
Show member pathways
12.28 TNF TLR5 TLR4 TLR2 MYD88
22
Show member pathways
12.27 TNF TLR4 TLR2 MYD88 IL1B
23 12.25 TNF TLR4 MYD88 IL1B AIM2
24 12.24 TNF TLR4 TLR2 MYD88 IL1B
25
Show member pathways
12.22 TNF TLR4 IL1B FTL
26
Show member pathways
12.22 TNF TLR5 TLR2 MYD88 IL1B
27 12.2 TNF TLR5 TLR4 TLR2
28
Show member pathways
12.15 TNF TLR5 TLR4 TLR2 MYD88 IL1B
29
Show member pathways
12.06 TLR5 TLR4 TLR2 IL1B
30 12.02 TNF TLR4 MYD88 IL1B CD8A CD4
31 11.97 TNF TLR4 MYD88 IL1B
32 11.96 TNF TLR4 TLR2 IL1B
33 11.95 TNF IL1B IL17A
34
Show member pathways
11.94 IL1B CD8A CD4
35 11.94 TNF IL1B CD8A CD4
36 11.88 TNF TLR4 TLR2 IL1B IL17A
37
Show member pathways
11.85 TLR4 MYD88 IL17A
38 11.81 TLR5 TLR4 TLR2
39 11.8 TNF TLR4 MYD88 IL1B
40 11.79 TNF IL1B CD8A CD4
41
Show member pathways
11.76 TLR5 TLR4 TLR2 IL1B IL17A CD4
42 11.65 TNF TLR5 TLR4 TLR2 CCR6
43 11.6 TNF TLR4 MYD88
44 11.54 TNF IL1B IL17A CD8A CD4 CCR6
45 11.53 TNF TLR4 TLR2 IL1B
46 11.47 TNF TLR4 TLR2 MYD88 IL1B
47 11.42 TNF MYD88 IL1B
48 11.4 TNF TLR4 IL1B
49 11.35 TNF IL1B IL17A
50 11.3 TNF IL1B CD4

GO Terms for Pneumonic Tularemia

Cellular components related to Pneumonic Tularemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.86 TNF SCGB1D1 IL1B IL17A FTL DEFB121
2 cell surface GO:0009986 9.55 TNF TLR4 TLR2 CD4 CCR6
3 integral component of plasma membrane GO:0005887 9.5 TNF TLR5 TLR4 TLR2 CD8A CD4
4 external side of plasma membrane GO:0009897 9.1 TNF TLR4 IL17A CD8A CD4 CCR6

Biological processes related to Pneumonic Tularemia according to GeneCards Suite gene sharing:

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 10.08 TLR5 TLR4 TLR2 MYD88 IL17A DEFB121
2 positive regulation of gene expression GO:0010628 10.07 TNF TLR4 TLR2 MYD88 IL1B
3 immune system process GO:0002376 10.06 TLR5 TLR4 TLR2 MYD88 IL17A CD8A
4 cytokine-mediated signaling pathway GO:0019221 10.02 TNF MYD88 IL1B IL17A CD4
5 defense response to bacterium GO:0042742 10 TNF TLR5 TLR4 MYD88 DEFB121
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.95 TNF TLR4 MYD88 CD4
7 response to lipopolysaccharide GO:0032496 9.95 TLR4 TLR2 MYD88 IL1B
8 cellular response to lipopolysaccharide GO:0071222 9.95 TNF TLR5 TLR4 MYD88 IL1B
9 inflammatory response GO:0006954 9.92 TNF TLR5 TLR4 TLR2 MYD88 IL1B
10 defense response to Gram-positive bacterium GO:0050830 9.91 TNF TLR2 MYD88 IL17A
11 positive regulation of inflammatory response GO:0050729 9.89 TNF TLR4 TLR2 IL1B
12 positive regulation of tumor necrosis factor production GO:0032760 9.88 TLR4 TLR2 MYD88 IL17A
13 positive regulation of JNK cascade GO:0046330 9.88 TNF TLR4 MYD88 IL1B
14 regulation of inflammatory response GO:0050727 9.87 TNF TLR4 MYD88
15 defense response to Gram-negative bacterium GO:0050829 9.87 TLR4 IL17A CD4
16 cellular response to mechanical stimulus GO:0071260 9.87 TLR5 TLR4 MYD88 IL1B
17 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.86 TNF TLR4 TLR2 IL1B
18 positive regulation of interferon-gamma production GO:0032729 9.85 TNF TLR4 IL1B
19 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.85 TNF TLR4 TLR2 MYD88 IL1B AIM2
20 positive regulation of interleukin-1 beta production GO:0032731 9.83 TNF TLR4 IL17A AIM2
21 positive regulation of interleukin-12 production GO:0032735 9.81 TLR4 TLR2 IL17A
22 toll-like receptor signaling pathway GO:0002224 9.81 TLR5 TLR4 TLR2 MYD88
23 positive regulation of nitric oxide biosynthetic process GO:0045429 9.8 TNF TLR5 TLR4 IL1B
24 positive regulation of chemokine production GO:0032722 9.78 TNF TLR4 TLR2 MYD88
25 MyD88-dependent toll-like receptor signaling pathway GO:0002755 9.73 TLR5 TLR4 TLR2 MYD88
26 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.71 TLR4 TLR2
27 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.71 TNF IL1B
28 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.71 TNF TLR4 MYD88 IL17A
29 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.7 TNF IL1B
30 positive regulation of neuroinflammatory response GO:0150078 9.7 TNF IL1B
31 cellular response to oxidised low-density lipoprotein particle stimulus GO:0140052 9.7 TLR4 MYD88
32 I-kappaB phosphorylation GO:0007252 9.7 TLR4 TLR2
33 positive regulation of chemokine (C-X-C motif) ligand 2 production GO:2000343 9.69 TNF TLR4
34 regulation of establishment of endothelial barrier GO:1903140 9.68 TNF IL1B
35 cellular response to lipoteichoic acid GO:0071223 9.68 TLR4 TLR2
36 regulation of cytokine secretion GO:0050707 9.68 TLR5 TLR2
37 positive regulation of lymphocyte proliferation GO:0050671 9.68 TLR4 MYD88
38 vascular endothelial growth factor production GO:0010573 9.67 TNF IL1B
39 intestinal epithelial structure maintenance GO:0060729 9.66 TLR4 IL17A
40 positive regulation of interleukin-23 production GO:0032747 9.66 MYD88 IL17A
41 positive regulation of fever generation GO:0031622 9.65 TNF IL1B
42 lipopolysaccharide-mediated signaling pathway GO:0031663 9.65 TNF TLR4 TLR2 MYD88 IL1B
43 positive regulation of toll-like receptor signaling pathway GO:0034123 9.64 TLR5 TLR2
44 sequestering of triglyceride GO:0030730 9.64 TNF IL1B
45 positive regulation of matrix metallopeptidase secretion GO:1904466 9.63 TLR4 TLR2
46 positive regulation of interleukin-6 production GO:0032755 9.63 TNF TLR4 TLR2 MYD88 IL1B IL17A
47 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.62 TNF IL1B
48 positive regulation of cellular response to macrophage colony-stimulating factor stimulus GO:1903974 9.61 TLR4 TLR2
49 positive regulation of interleukin-8 production GO:0032757 9.43 TNF TLR5 TLR4 TLR2 MYD88 IL1B
50 immune response GO:0006955 9.32 TNF TLR5 TLR4 TLR2 IL1B IL17A

Molecular functions related to Pneumonic Tularemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.31 TNF TLR5 TLR4 TLR2 SCGB1D1 MYD88
2 identical protein binding GO:0042802 9.91 TNF TLR4 TLR2 MYD88 FTL CD4
3 transmembrane signaling receptor activity GO:0004888 9.62 TLR5 TLR4 TLR2 CD4
4 NAD+ nucleotidase, cyclic ADP-ribose generating GO:0061809 9.46 TLR4 TLR2
5 NAD(P)+ nucleosidase activity GO:0050135 9.43 TLR4 TLR2
6 signaling receptor activity GO:0038023 9.35 TLR5 TLR4 TLR2 CD4 CCR6
7 Toll-like receptor binding GO:0035325 9.26 TLR2 MYD88
8 lipopolysaccharide receptor activity GO:0001875 9.16 TLR4 TLR2
9 interleukin-1 receptor binding GO:0005149 8.8 TLR5 MYD88 IL1B

Sources for Pneumonic Tularemia

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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