MCID: NSD001
MIFTS: 45

Nose Disease

Categories: Bone diseases, Respiratory diseases, Smell/Taste diseases

Aliases & Classifications for Nose Disease

MalaCards integrated aliases for Nose Disease:

Name: Nose Disease 12 15
Nose Diseases 44 70
Abnormality of the Nose 29
Disorder of the Nose 12
Nasal Disorder 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2825
MeSH 44 D009668
SNOMED-CT 67 89488007
UMLS 70 C0028432

Summaries for Nose Disease

MalaCards based summary : Nose Disease, also known as nose diseases, is related to autoimmune lymphoproliferative syndrome and hypereosinophilic syndrome, and has symptoms including dyspnea, apnea and rhinorrhea. An important gene associated with Nose Disease is CCR6 (C-C Motif Chemokine Receptor 6), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Amoxicillin and Ofloxacin have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and lung, and related phenotypes are hematopoietic system and digestive/alimentary

Wikipedia : 73 The human nose is the most protruding part of the face. It bears the nostrils and is the first organ of... more...

Related Diseases for Nose Disease

Diseases related to Nose Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 679)
# Related Disease Score Top Affiliating Genes
1 autoimmune lymphoproliferative syndrome 30.2 TNF IL10 ICOSLG CD4
2 hypereosinophilic syndrome 30.1 RNASE3 IL5 IL4 IL13 IL10 CXCL8
3 meningitis 30.0 TNF IL6 IL5 IL4 IL17A IL13
4 allergic rhinitis 29.9 RNASE3 IL5 IL4 IL17A IL13 IL10
5 rhinitis 29.7 TSLP TNF RNASE3 IL6 IL5 IL4
6 cytokine deficiency 10.6 IL5 IL13
7 aztreonam allergy 10.6 IL5 IL13
8 acute asthma 10.6 RNASE3 IL5 IL4
9 atopic keratoconjunctivitis 10.5 RNASE3 IL5 IL4
10 ceftriaxone allergy 10.5 IL5 IL13 IL10
11 punctate inner choroidopathy 10.5 TNF IL10
12 vernal conjunctivitis 10.5 RNASE3 IL4 CCR6
13 cefaclor allergy 10.5 IL5 IL13
14 cough variant asthma 10.5 RNASE3 IL5 IL4
15 cow milk allergy 10.5 IL5 IL4 IL10
16 coccidioidomycosis 10.5 IL17A CD4 CCR6
17 childhood-onset asthma 10.5 RNASE3 IL13
18 loeffler syndrome 10.5 IL5 IL33 IL13
19 paragonimiasis 10.5 RNASE3 IL5 IL13
20 vasomotor rhinitis 10.5 RNASE3 IL5 IL13
21 orange allergy 10.5 PDCL IL5 IL13
22 immunodeficiency 16 10.5 ICOSLG CD4 CCR6
23 autoimmune glomerulonephritis 10.5 ICOSLG CD4 CCR6
24 tropical endomyocardial fibrosis 10.5 TNF IL4 IL10
25 eosinophilic gastritis 10.5 IL5 IL13 CCL11
26 immunodeficiency 35 10.5 IL10 ICOSLG CCR6
27 beta-lactam allergy 10.5 IL4 IL13 IL10
28 external pathological resorption 10.5 TNF IL6
29 herpes simplex virus keratitis 10.5 CXCL8 CD4 CCR6
30 drug allergy 10.5 IL5 IL13 CD4
31 patulous eustachian tube 10.5 RNASE3 IL5 CCL11
32 cefuroxime allergy 10.5 IL5 IL13
33 pemphigoid gestationis 10.5 RNASE3 IL5 CCL11
34 penicillin allergy 10.5 IL4 IL13 IL10
35 pustulosis palmaris et plantaris 10.5 TNF IL5 CCR6
36 evans' syndrome 10.5 IL10 CD4 CCR6
37 immunoglobulin alpha deficiency 10.5 ICOSLG CD4 CCR6
38 anemia, autoimmune hemolytic 10.5 ICOSLG CD4 CCR6
39 parasitic ectoparasitic infectious disease 10.5 IL4 CD4 CCR6
40 scorpion envenomation 10.5 TNF IL6
41 mononeuritis multiplex 10.5 TNF IL5 CD4
42 physiological polycythemia 10.5 TNF IL6
43 wells syndrome 10.5 RNASE3 IL5 CXCL8
44 mansonelliasis 10.5 IL5 IL10 CXCL8
45 norwegian scabies 10.5 IL5 IL17A CD4
46 seborrheic dermatitis 10.5 FLG CD4 CCR6
47 kimura disease 10.5 RNASE3 IL5 IL4 IL13
48 esophageal candidiasis 10.5 IL17A CD4 CCR6
49 central nervous system hematologic cancer 10.5 IL10 CD4 CCR6
50 tertiary syphilis 10.5 TNF IL10 CD4

Graphical network of the top 20 diseases related to Nose Disease:



Diseases related to Nose Disease

Symptoms & Phenotypes for Nose Disease

UMLS symptoms related to Nose Disease:


dyspnea; apnea; rhinorrhea

MGI Mouse Phenotypes related to Nose Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.13 CCL11 CCR6 CD4 HRH1 IL10 IL13
2 digestive/alimentary MP:0005381 10.07 CD4 IL10 IL13 IL17A IL33 IL4
3 immune system MP:0005387 10.07 CCL11 CCR6 CD4 HRH1 IL10 IL13
4 integument MP:0010771 9.81 CD4 IL10 IL13 IL17A IL33 IL4
5 no phenotypic analysis MP:0003012 9.5 CD4 IL10 IL13 IL17A IL33 IL4
6 respiratory system MP:0005388 9.32 CCL11 IL10 IL13 IL17A IL33 IL4

Drugs & Therapeutics for Nose Disease

Drugs for Nose Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amoxicillin Approved, Vet_approved Phase 3 26787-78-0 33613
2
Ofloxacin Approved Phase 3 82419-36-1 4583
3
Levofloxacin Approved, Investigational Phase 3 100986-85-4 149096
4
Licorice Approved Phase 2, Phase 3
5 Clavulanic Acids Phase 3
6 Cytochrome P-450 Enzyme Inhibitors Phase 3
7 Pharmaceutical Solutions Phase 2, Phase 3
8
Aztreonam Approved Phase 2 78110-38-0 5362041 5742832
9 Anti-Bacterial Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Acidophilus

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Efficacy and Safety of Hyeonggaeyeongyo-tang for Chronic Rhinitis According to Pattern Identification in Korean Medicine Completed NCT02477293 Phase 4 Hyeonggaeyeongyo-tang
2 A Multicenter, Randomized Study to Compare the Safety and Efficacy of Oral Levofloxacin With Amoxicillin/Clavulanate Potassium in the Treatment of Acute Sinusitis in Adults Completed NCT00249210 Phase 3 levofloxacin
3 Chia Yi Chang Gung Memorial Hospital Recruiting NCT04046393 Phase 2, Phase 3
4 Aztreonam Aerosol to Treat Cystic Fibrosis Nasal Disease Terminated NCT02730793 Phase 2 Oral Aztreonam;Nasal Aztreonam;Nasal Placebo
5 A Multislice Computed Tomographic Study of the Sphenoid Sinus Unknown status NCT03222934
6 The Lolland-Falster Health Study Unknown status NCT02482896
7 Squamous Cell Carcinoma Antigen as a Marker of Sinonasal Inverted Papilloma Completed NCT01827423
8 The Diagnostics of Extraesophageal Reflux With the Restech System in Patients With Chronic Rhinosinusitis Completed NCT01819454
9 Open, Not Randomised, Non-blinded Observation Study to Investigate the Immediate Effect of Proponent - Nasal - Spray in Case of Unspecific Discomfort in the Nose Completed NCT03251066
10 Study of Probiotic Potential of Nasopharyngeal Lactobacillus Strains in the Upper Respiratory Tract After Nasal Spray Application Active, not recruiting NCT03587545

Search NIH Clinical Center for Nose Disease

Cochrane evidence based reviews: nose diseases

Genetic Tests for Nose Disease

Genetic tests related to Nose Disease:

# Genetic test Affiliating Genes
1 Abnormality of the Nose 29

Anatomical Context for Nose Disease

MalaCards organs/tissues related to Nose Disease:

40
Skin, Bone, Lung, Eye, Cortex, Thymus, Spinal Cord

Publications for Nose Disease

Articles related to Nose Disease:

(show all 47)
# Title Authors PMID Year
1
Seasonal patterns of Pseudogymnoascus destructans germination indicate host-pathogen coevolution. 61
32544381 2020
2
First Isolation of Pseudogymnoascus destructans, the Fungal Causative Agent of White-Nose Disease, in Bats from Italy. 61
31414314 2019
3
['School of Excellence' in the structure of teaching otorhinolaryngology at the department of diseases of the ear, nose and throat of Sechenov University: experience and perspective]. 61
31793535 2019
4
Hippocrates the otolaryngologist: an epidemiological analysis of ear-throat-nose diseases in the Corpus Hippocraticum. 61
29385936 2018
5
[The experience with the education based at the clinical residency of the Department of Ear, Throat and Nose Diseases, I.M. Sechenov First Moscow State Medical University (on the occasion of the 260th anniversary of the Sechenovsky University)]. 61
30721194 2018
6
[The role of the students' research groups in the formation of the system of values as a personality trait of the future doctor]. 61
28252596 2017
7
[The all-Russian scientific and practical conference 'Modern problems of otorhinolaryngology' dedicated to the 120th anniversary of the foundation of the Department of Ear, Throat and Nose Diseases at I.M. Sechnov First Moscow State Medical University]. 61
28631691 2017
8
Open versus endoscopic septoplasty techniques: A systematic review and meta-analysis. 61
28124656 2016
9
Asthma and Obstructive Sleep Apnea. 61
26481749 2015
10
[Treatment of pediatric nose disease]. 61
26567393 2015
11
An innovative smartphone-based otorhinoendoscope and its application in mobile health and teleotolaryngology. 61
24590187 2014
12
An audit of ear, nose and throat diseases in a tertiary health institution in South-western Nigeria. 61
23503692 2013
13
[Hypertonic (3%) vs. isotonic brine nosespray--a controlled study]. 61
21308609 2011
14
[Correlation between histomorphometric changes and the type of aerobic bacteria isolated in chronic suppurative otitis media]. 61
21425618 2011
15
[Working despite having diseases: Ear diseases and nose diseases]. 61
21584999 2010
16
[Endoscopic dacryocystorhinostomy]. 61
20629424 2010
17
Evaluation of non-viral risk factors for nasopharyngeal carcinoma in Thailand: results from a case-control study. 61
21133603 2010
18
[Andrzej Franciszek Ksawery Dybek (1783-1826) and rhinolaryngology]. 61
19886541 2009
19
[Short-term results of audiological change of nasopharyngeal carcinoma patient after radiotherapy and chemotherapy]. 61
19141241 2008
20
[Epidemiological analysis of patients cure in frame of emergency in ORL clinic in Warsaw, stepińiska 15/21 in 1996]. 61
15732777 2004
21
[Application of computer land mark guide system in oto-rhino-surgery]. 61
12725177 2003
22
[Annual report of the Subotica Municipal and Eye Hospital for 1889]. 61
12170872 2002
23
[Aspirin-induced asthma and nose diseases]. 61
11203062 2000
24
Non-dietary risk factors for nasopharyngeal carcinoma in Shanghai, China. 61
10652428 2000
25
Quality of life of patients with perennial allergic rhinitis: preliminary validation of the Rhinoconjunctivitis Quality of Life Questionnaire in Singapore. 61
10697254 1999
26
[Rhinomanometry: a method of objective study of nasal patency]. 61
9757692 1997
27
[Evaluation of nasal mucociliary clearance with a modified saccharin test]. 61
7605567 1995
28
[Clinical evaluation of treating accessory nasal sinus diseases in children using autovaccine]. 61
7967949 1994
29
[Nose disease caused by occupational exposure to chromium in the electroplating industry: cytomorphological aspects]. 61
2089242 1990
30
[Prevalence of chronic ear, throat and nose diseases among children and their need for otorhinolaryngological care]. 61
2964115 1987
31
Effects of record music on hearing loss among young workers in a shipyard. 61
4055074 1985
32
[Maxillo-temporal panoramic tomography for diagnostic screening test of ear and nose diseases (author's transl)]. 61
7299527 1981
33
[Comparative data on the morbidity among the population of the republic of ghana from ear, throat and nose diseases according to patient visits and medical exams]. 61
706760 1978
34
[Progressive gangrenous rhinitis--with special reference to clinical and vascular lesions of limited forms of Wegener's granuloma and similar nose diseases]. 61
671751 1978
35
[Ear, throat and nose diseases in children of the town of Chernigov during the 8th year of ambulatory care (data of the examinations of children in children's institutions)]. 61
4771266 1973
36
[Incidence of ear, throat and nose diseases in the population of the arctic region]. 61
4483721 1972
37
[Experience in the clinical use of Tavegyl in nose diseases--judgment of effectiveness by cross-over method]. 61
4401875 1971
38
[Incidence of ear, throat and nose diseases among children and the need of otolaryngological service]. 61
5569858 1971
39
[Electrocardiographic changes during the treatment with corticosteroids in patients with allergic nose diseases]. 61
5620424 1967
40
[Clinical application of an adrenal cortex hormone in nose diseases]. 61
6009622 1966
41
[PAIN IN NOSE DISEASES]. 61
14095854 1963
42
[Nose diseases and headache]. 61
13940893 1963
43
[Infiltration & de-infiltration of the nasal skin in nose diseases: a diagnostic & prognostic sign]. 61
13592380 1958
44
[The diagnosis of nose diseases with special reference to eosinophilia of the nasal secretion]. 61
13088101 1953
45
[Otogenous meningitis according to data of the clinic for ear, throat, and nose diseases of the I.V. Stalin Second Moscow Medical Institute]. 61
13005927 1952
46
[Importance of preliminary tests in effective antibiotic therapy of chronic ear and nose diseases]. 61
14867279 1951
47
Blue nose disease in the horse. 61
18124494 1949

Variations for Nose Disease

Expression for Nose Disease

Search GEO for disease gene expression data for Nose Disease.

Pathways for Nose Disease

Pathways related to Nose Disease according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.07 TNF RNASE3 IL6 IL5 IL4 IL33
2
Show member pathways
13.88 TNF IL6 IL5 IL4 IL17A IL13
3
Show member pathways
13.73 TSLP TNF IL6 IL5 IL4 IL33
4
Show member pathways
13.6 TNF IL6 IL5 IL4 IL17A IL13
5
Show member pathways
13.47 TNF IL6 IL5 IL4 IL17A IL13
6
Show member pathways
13.42 TNF IL6 IL5 IL4 IL33 IL17A
7
Show member pathways
13.34 TNF IL6 IL5 IL4 IL17A IL13
8
Show member pathways
12.78 TNF RNASE3 IL6 IL5 IL4 IL17A
9
Show member pathways
12.7 TNF IL6 IL5 IL4 IL17A IL10
10
Show member pathways
12.66 TNF IL4 IL10 ICOSLG CD4
11
Show member pathways
12.65 TNF IL6 IL5 IL4 IL17A IL13
12
Show member pathways
12.63 TNF IL6 IL17A IL10 CD4
13
Show member pathways
12.5 TSLP IL6 IL5 IL4 IL13 IL10
14
Show member pathways
12.43 TNF IL6 IL10 CXCL8 CCR6 CCL11
15
Show member pathways
12.41 TNF IL6 IL5 IL4 IL17A IL13
16
Show member pathways
12.31 TNF IL6 IL5 IL4 IL17A IL13
17
Show member pathways
12.27 TNF IL6 IL4 CXCL8 CCL11
18 12.26 TNF IL6 IL13 IL10 CXCL8
19
Show member pathways
12.25 TNF IL6 IL33 CXCL8
20 12.18 TNF IL6 IL10 CXCL8 CD4
21 12.1 TNF IL6 IL5 IL4 IL10 CD4
22 12.07 TNF IL6 IL4 CXCL8
23 12.03 TNF IL6 IL4 IL17A IL13 IL10
24 12.02 TNF IL6 IL5 IL4 CD4
25 12 TNF IL6 IL10 CXCL8
26 11.95 TNF IL6 IL17A CXCL8
27
Show member pathways
11.94 IL6 IL4 IL17A CD4
28 11.91 IL6 IL5 IL4 IL13 CXCL8
29
Show member pathways
11.87 TNF IL6 IL17A IL10 CD4
30 11.86 TNF IL6 IL10 CXCL8
31
Show member pathways
11.85 TNF IL5 IL4 CXCL8
32 11.84 TNF IL6 IL10 CD4
33 11.8 TNF IL6 IL5 IL4 IL10 ICOSLG
34 11.76 IL5 IL4 IL10 CCL11
35 11.75 TNF IL6 IL5 IL4 IL13 CXCL8
36
Show member pathways
11.68 TNF IL6 CXCL8
37 11.65 TNF IL6 IL10 CXCL8
38 11.64 TNF IL6 CXCL8
39 11.62 TNF IL6 IL4 IL13 IL10 CXCL8
40 11.61 TSLP IL6 CXCL8 CCL11
41 11.53 IL5 IL4 IL33 IL13 IL10 CD4
42 11.44 TNF IL6 IL10
43 11.41 TNF IL6 IL10
44 11.32 IL5 IL4 IL13 IL10
45 11.23 TSLP TNF IL5 IL4 IL33 IL17A
46 11.16 TNF IL6 IL5 IL4 IL13 IL10
47 11.13 TNF IL6 CXCL8
48 11.08 TNF IL6 IL5 IL4 IL17A IL13
49 11.06 TSLP TNF IL6 IL5 IL4 IL33
50 10.93 IL6 IL5 IL4 IL13

GO Terms for Nose Disease

Cellular components related to Nose Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.73 TSLP TNF RNASE3 IL6 IL5 IL4
2 external side of plasma membrane GO:0009897 9.63 TNF IL17A IL13 ICOSLG CD4 CCR6
3 extracellular space GO:0005615 9.44 TSLP TNF RNASE3 MIR19A IL6 IL5

Biological processes related to Nose Disease according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.15 TNF IL6 IL5 IL4 IL10 CD4
2 signal transduction GO:0007165 10.15 TSLP PDCL IL6 IL5 IL4 IL10
3 positive regulation of gene expression GO:0010628 10.07 TNF IL6 IL4 IL33 IL13 CXCL8
4 cellular response to lipopolysaccharide GO:0071222 9.96 TNF IL6 IL10 CXCL8
5 chemotaxis GO:0006935 9.94 RNASE3 CXCL8 CCR6 CCL11
6 negative regulation of inflammatory response GO:0050728 9.93 MIR19A IL4 IL13 IL10
7 inflammatory response GO:0006954 9.92 TNF IL6 IL5 IL17A IL13 HRH1
8 cellular response to interleukin-1 GO:0071347 9.89 IL17A CXCL8 CCL11
9 negative regulation of interleukin-6 production GO:0032715 9.88 TNF MIR19A IL10
10 chemokine-mediated signaling pathway GO:0070098 9.88 CXCL8 CCR6 CCL11
11 positive regulation of DNA-binding transcription factor activity GO:0051091 9.88 TNF IL6 IL5 IL10
12 defense response to Gram-positive bacterium GO:0050830 9.88 TNF RNASE3 IL6 IL17A
13 antimicrobial humoral immune response mediated by antimicrobial peptide GO:0061844 9.87 TSLP RNASE3 CXCL8
14 response to glucocorticoid GO:0051384 9.87 TNF IL6 IL10
15 positive regulation of T cell proliferation GO:0042102 9.86 IL6 IL4 CD4
16 positive regulation of smooth muscle cell proliferation GO:0048661 9.86 TNF IL6 IL13
17 humoral immune response GO:0006959 9.85 TNF IL6 CCR6
18 positive regulation of interleukin-1 beta production GO:0032731 9.85 TNF IL6 IL17A
19 positive regulation of cytokine production GO:0001819 9.84 TNF IL33 IL10
20 positive regulation of interleukin-6 production GO:0032755 9.83 TSLP TNF IL6 IL33 IL17A
21 T cell activation GO:0042110 9.82 IL4 ICOSLG CD4
22 positive regulation of B cell proliferation GO:0030890 9.81 IL5 IL4 IL13
23 negative regulation of endothelial cell apoptotic process GO:2000352 9.8 IL4 IL13 IL10
24 positive regulation of chemokine production GO:0032722 9.8 TSLP TNF IL6 IL33
25 defense response to Gram-negative bacterium GO:0050829 9.8 TSLP RNASE3 IL6 IL17A CD4
26 B cell activation GO:0042113 9.79 MIR19A IL4 ICOSLG
27 positive regulation of interleukin-10 production GO:0032733 9.78 TSLP IL6 IL4 IL13
28 microglial cell activation GO:0001774 9.77 TNF IL4 IL13
29 positive regulation of JAK-STAT cascade GO:0046427 9.76 TNF IL6 IL5 IL10
30 negative regulation of neurogenesis GO:0050768 9.74 TNF IL6 CCL11
31 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.73 TNF IL6 IL17A
32 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.73 TSLP TNF MIR19A IL6 IL4 IL13
33 positive regulation of macrophage activation GO:0043032 9.72 IL33 IL13 IL10
34 positive regulation of podosome assembly GO:0071803 9.71 TNF IL5
35 response to molecule of bacterial origin GO:0002237 9.71 IL10 CXCL8
36 positive regulation of interleukin-5 production GO:0032754 9.71 TSLP IL33
37 positive regulation of neuroinflammatory response GO:0150078 9.71 TNF IL6 IL33
38 positive regulation of mast cell degranulation GO:0043306 9.7 IL4 IL13
39 positive regulation of MHC class II biosynthetic process GO:0045348 9.7 IL4 IL33 IL10
40 immune response GO:0006955 9.7 TNF IL6 IL5 IL4 IL17A IL13
41 negative regulation of lipid storage GO:0010888 9.69 TNF IL6
42 endothelial cell apoptotic process GO:0072577 9.69 TNF IL10
43 positive regulation of interleukin-13 production GO:0032736 9.69 TSLP IL4 IL33
44 vascular endothelial growth factor production GO:0010573 9.68 TNF IL6
45 positive regulation of mononuclear cell migration GO:0071677 9.66 TNF IL4
46 negative regulation of cytokine production involved in immune response GO:0002719 9.66 TNF IL10
47 positive regulation of STAT cascade GO:1904894 9.65 TSLP IL6
48 type 2 immune response GO:0042092 9.65 IL4 IL10
49 negative regulation of complement-dependent cytotoxicity GO:1903660 9.61 IL4 IL13
50 regulation of isotype switching GO:0045191 9.61 IL4 IL10

Molecular functions related to Nose Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.36 TSLP TNF IL6 IL5 IL4 IL33
2 growth factor activity GO:0008083 9.26 IL6 IL5 IL4 IL10

Sources for Nose Disease

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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