MCID: GLS007
MIFTS: 47

Glossitis

Categories: Gastrointestinal diseases, Oral diseases

Aliases & Classifications for Glossitis

MalaCards integrated aliases for Glossitis:

Name: Glossitis 12 43 15 17 71 32

Classifications:



External Ids:

Disease Ontology 12 DOID:1456
ICD9CM 34 529.0
MeSH 43 D005928
NCIt 49 C112199
SNOMED-CT 67 45534005
ICD10 32 K14.0
UMLS 71 C0017675

Summaries for Glossitis

MalaCards based summary : Glossitis is related to median rhomboid glossitis and atrophic glossitis, and has symptoms including glossalgia An important gene associated with Glossitis is TTR (Transthyretin), and among its related pathways/superpathways are Keratinization and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Doxycycline and Cefuroxime have been mentioned in the context of this disorder. Affiliated tissues include tongue, skin and thyroid, and related phenotypes are digestive/alimentary and growth/size/body region

Wikipedia : 74 Glossitis can mean soreness of the tongue, or more usually inflammation with depapillation of the dorsal... more...

Related Diseases for Glossitis

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

(show top 50) (show all 468)
# Related Disease Score Top Affiliating Genes
1 median rhomboid glossitis 34.2 KRT6B KRT6A KRT17 KRT16
2 atrophic glossitis 33.7 TTR IL36RN CBLIF
3 stomatitis 31.4 TNF IL6 IL1B
4 pernicious anemia 31.2 TCN2 CBLIF ATP4A ATP12A
5 candidiasis 30.7 TNF IL6 IL1B
6 gingivitis 30.7 TNF IL6 IL1B
7 atrophic gastritis 30.6 TNF IL6 IL1B
8 pharyngitis 30.6 TNF IL6 IL1B
9 lichen planus 30.6 TNF KRT16 IL6
10 esophagitis 30.4 TNF IL6 IL1B
11 periodontitis 30.4 TNF IL6 IL1B
12 osteomyelitis 30.4 TNF IL6 IL1B
13 gastritis 30.4 TNF IL6 IL1B ATP4A
14 aphthous stomatitis 30.4 TNF SLC6A4 IL6 IL1B
15 toxic shock syndrome 30.3 TNF IL6 IL1B
16 tonsillitis 30.3 TNF IL6 IL1B
17 endocarditis 30.3 TTR TNF IL6
18 dermatitis 30.3 TNF KRT16 IL6 IL1B
19 keratitis, hereditary 30.3 TNF IL6 IL1B
20 burning mouth syndrome 30.2 TNF SLC6A4 IL6 IL1B
21 pneumonia 30.2 TTR TNF IL6 IL1B
22 pulmonary tuberculosis 30.1 TNF IL6 IL1B
23 amyloidosis 30.1 TTR TNF IL6 IL1B
24 alopecia areata 30.0 TNF KRT16 IL6 IL1B
25 angular cheilitis 29.9 KRT6B KRT6A GCG CBLIF
26 pachyonychia congenita 1 29.9 KRT6B KRT6A KRT17 KRT16
27 megaloblastic anemia 29.8 TCN2 LMBRD1 CBLIF
28 diarrhea 29.7 TTR TNF SLC6A4 IL6 IL1B
29 deficiency anemia 29.7 TNF IL6 CBLIF ATP4A ATP12A
30 psoriasis 29.6 TNF KRT17 KRT16 IL6 IL36RN IL1B
31 vitamin b12 deficiency 29.3 TCN2 LMBRD1 CBLIF ATP4A ATP12A
32 exanthem 28.9 TNF IL6 IL1B ATP4A ATP12A
33 skin disease 28.7 TNF KRT6A KRT17 KRT16 IL6 IL36RN
34 pulmonary disease, chronic obstructive 28.5 TNF SLC6A4 IL6 IL1B ATP4A ATP12A
35 celiac disease 1 28.2 TNF IL6 IL1B GCG CBLIF ATP4A
36 geographic tongue 12.2
37 glucagonoma 11.5
38 plummer vinson syndrome 11.5
39 methylmalonic aciduria and homocystinuria, cblf type 11.2
40 riboflavin deficiency 11.2
41 tongue disease 11.2
42 hypertrichosis lanuginosa, acquired 11.2
43 external pathological resorption 10.6 TNF IL6
44 scorpion envenomation 10.6 TNF IL6
45 physiological polycythemia 10.5 TNF IL1B
46 idiopathic anterior uveitis 10.5 TNF IL6
47 streptococcal toxic-shock syndrome 10.5 TNF IL6
48 angioimmunoblastic lymphadenopathy with dysproteinemia 10.5 TNF IL6
49 systemic onset juvenile idiopathic arthritis 10.5 TNF IL1B
50 staphylococcal toxic shock syndrome 10.5 TNF IL1B

Comorbidity relations with Glossitis via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Heart Disease Oral Candidiasis

Graphical network of the top 20 diseases related to Glossitis:



Diseases related to Glossitis

Symptoms & Phenotypes for Glossitis

UMLS symptoms related to Glossitis:


glossalgia

MGI Mouse Phenotypes related to Glossitis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.91 ATP12A ATP4A IL6 KRT16 KRT17 KRT6B
2 growth/size/body region MP:0005378 9.9 ATP12A CBLIF IL1B IL36RN IL6 KRT16
3 homeostasis/metabolism MP:0005376 9.73 ATP12A ATP4A CBLIF COMT IL1B IL36RN
4 integument MP:0010771 9.23 IL1B IL36RN IL6 KRT16 KRT17 KRT6B

Drugs & Therapeutics for Glossitis

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2
Cefuroxime Approved Phase 4 55268-75-2 5479529 5361202
3
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
4
Penicillin V Approved, Vet_approved Phase 4 87-08-1 6869
5
Cefpirome Approved Phase 4 84957-29-9 5479539
6
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
7 Antiparasitic Agents Phase 4
8 Anti-Bacterial Agents Phase 4
9 Antiprotozoal Agents Phase 4
10 Antibiotics, Antitubercular Phase 4
11 Anti-Infective Agents Phase 4
12 Antimalarials Phase 4
13 cefuroxime axetil Phase 4
14 penicillins Phase 4
15 Norgestimate, ethinyl estradiol drug combination Phase 4
16 Pharmaceutical Solutions Phase 2
17 Guar Phase 2
18
leucovorin Approved 58-05-9 6006 143
19
Hydroxocobalamin Approved 13422-51-0 15589840 11953898
20
Iron Approved, Experimental 15438-31-0, 7439-89-6 27284 23925
21
Ceftriaxone Approved 73384-59-5 5361919 5479530
22
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
23
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
24
Cobalamin Experimental 13408-78-1 6857388
25 Trace Elements
26 Immunoglobulins
27 Vitamins
28 Antibodies
29 Vitamin B Complex
30 Vitamin B 12
31 Hematinics
32 Folate
33 Nutrients
34 Vitamin B9
35 Micronutrients
36 Autoantibodies
37 Vitamin B12

Interventional clinical trials:

(show all 23)
# Name Status NCT ID Phase Drugs
1 Tick Borne Diseases in Norwegian General Practice. A Randomized, Controlled Trial for Treatment of Erythema Migrans in Norwegian General Practice. A Comparison of Phenoxymethylpenicillin, Amoxicillin and Doxycycline. Completed NCT01368341 Phase 4 Doxycycline;Phenoxymethylpenicillin;Amoxicillin
2 Risk Factors for Failure of Erythema Migrans Treatment - Comparison of Doxycycline and Cefuroxime Axetil for Treatment of Adult Patients With Erythema Migrans: Clinical and Microbiological Outcome. Completed NCT01518192 Phase 4 doxycycline;cefuroxime axetil
3 Plasma and Abscess Fluid Pharmacokinetics of Cefpirome and Moxifloxacin After Single and Multiple Dose Administration Completed NCT00280514 Phase 4 cefpirome and moxifloxacin administration
4 Effectiveness of Mucolox® and Clonazepam in Treatment of Burning Mouth Syndrome Withdrawn NCT02690844 Phase 4 Clonazepam mixed with Mucolox®;Mucolox® alone;Clonazepam
5 Oral Rehydration SolutionContaining Amylase Resistant Starch in Severely Malnourished Children With Watery Diarrhoea Due to Vibrio Cholerae Completed NCT00324285 Phase 3 Amylase resistant starch added ORS
6 Optimisation of Oral Rehydration Solution and Evaluation of the Efficacy of Benefiber(Partially Hydrolyzed Guar Gum) Containing Modified Oral Rehydration Solution in the Treatment of Severely Malnourished Children With Watery Diarrhoea Completed NCT01821586 Phase 2
7 Comparison of Ceftriaxone and Doxycycline for Treatment of Multiple Erythema Migrans Unknown status NCT01163994 ceftriaxone;doxycycline
8 HLA-DRB1 and HLA-DQB1 Genotyping for Autoantibody-positive and -Negative Patients With Atrophic Glossitis or Burning Mouth Syndrome Unknown status NCT01931293
9 The Relationship Between Allergic Rhinitis and Geographic Tongue Unknown status NCT01454492
10 Assessment of Nutritional Consequences of Sleeve Gastrectomy Unknown status NCT01475903
11 Duration of Antibiotic Treatment of Erythema Migrans. A Randomized Clinical Trial. Completed NCT00910715 doxycycline;doxycycline;placebo
12 Inflammatory Responses in Borrelia Afzelii Culture Positive Patients With Early Disseminated or Early Localized Lyme Borreliosis Completed NCT03980015
13 Comparison of Two Culture Media for Cultivation of Borrelia Burgdorferi Sensu Lato Completed NCT02145754
14 Clinical Course, Serologic Response and Long-term Outcome in Elderly Patients With Early Lyme Borreliosis Completed NCT03371563 Antibiotics
15 Comparison of Doxycycline and Cefuroxime Axetil in Patients With Erythema Migrans Completed NCT03584919 doxycycline;Cefuroxime Axetil 500Mg Tab
16 Doxycycline in Therapy of Erythema Migrans - do the Accompanying Symptoms Influence the Outcome? Completed NCT01475708 Doxycycline
17 Analysis of Erythema Migrans Lesions Completed NCT00132327
18 Impact of Patient's Pretreatment Expectations on Treatment Outcome of Early Lyme Borreliosis Recruiting NCT03462329 Antibiotics (preferentially oral doxycycline 100 mg bid)
19 Different Duration and Dosing of Amoxicillin in Patients With Erythema Migrans. A Randomized Clinical Trial. Recruiting NCT03966014 EM-amoxicillin 3 x 10 days;EM-amoxicillin 3 x 14 days;EM-amoxicillin 2 x 14 days
20 Inflammatory Proteins, Gene Polymorphisms, and Transcriptome Profiles in Patients With Erythema Migrans Recruiting NCT03956212 Doxycycline 7 days;Doxycycline 14 days
21 Inflammatory Proteins, Gene Polymorphisms, and Transcriptome Profiles in Patients With Erythema Migrans Recruiting NCT02147249 antibiotic treatment
22 Lyme Borreliosis and Early Cutaneous Diagnostic Recruiting NCT02414789
23 Next Generation Sequencing to Detect Borrelia Burgdorferi DNA in the Blood of Pediatric Patients With Lyme Disease Recruiting NCT03505879

Search NIH Clinical Center for Glossitis

Cochrane evidence based reviews: glossitis

Genetic Tests for Glossitis

Anatomical Context for Glossitis

MalaCards organs/tissues related to Glossitis:

40
Tongue, Skin, Thyroid, Salivary Gland, Testes, Heart, Colon

Publications for Glossitis

Articles related to Glossitis:

(show top 50) (show all 737)
# Title Authors PMID Year
1
Investigation of oral atopic diseases: Correlation between geographic tongue and fungiform papillary glossitis. 61
32540362 2020
2
Hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with normocytosis. 61
31362840 2020
3
Smart link of chronic atrophic gastritis with atrophic glossitis, gastric parietal cell antibody positivity, vitamin B12 deficiency, and hyperhomocysteinemia. 61
32024596 2020
4
Fatal canine parvovirus-2 (CPV-2) infection in a rescued free-ranging Taiwanese pangolin (Manis pentadactyla pentadactyla). 61
31886933 2020
5
Is chronic atrophic gastritis the missing link between atrophic glossitis, gastric parietal cell antibody positivity and hematological deficiencies? 61
31992475 2020
6
Amyloidoma of the Tongue: Case Report, Surgical Management, and Review of the Literature. 61
32442425 2020
7
Median rhomboid glossitis associated with candida infection in a woman treated with ixekizumab. 61
32301726 2020
8
Atrophic glossitis: Etiology, serum autoantibodies, anemia, hematinic deficiencies, hyperhomocysteinemia, and management. 61
31076315 2020
9
Pernicious anemia presenting as glossitis. 61
32312826 2020
10
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with vitamin B12 deficiency. 61
31630933 2020
11
Oral lesions as first clinical manifestations of Crohn's disease in paediatric patients: a report on 8 cases. 61
32183532 2020
12
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with iron deficiency. 61
31607629 2020
13
The association between vitamin deficiency and otolaryngologic diseases: A therapeutic target. 61
31733530 2020
14
Herpetic glossitis. 61
32031526 2020
15
Sensitive monitoring of riboflavin in commercial multivitamins using poly (chitosan)-based nanocomposite. 61
31769086 2020
16
Prevalence of and related risk factors in oral mucosa diseases among residents in the Baoshan District of Shanghai, China. 61
32140308 2020
17
Anemia, hematinic deficiencies, and gastric parietal cell antibody positivity in atrophic glossitis patients with or without hyperhomocysteinemia. 61
31444017 2020
18
Chapter 6: Vitamins and Oral Health. 61
31940621 2020
19
Temporomandibular Disorders and Oral Features in Systemic Lupus Erythematosus Patients: An Observational Study of Symptoms and Signs. 61
32038098 2020
20
Does serum gastric parietal cell antibody titer have influence on anemia and vitamin B12 deficiency in atrophic glossitis patients? 61
31277918 2020
21
Ovine Abortion by Neospora caninum: First Case Reported in Argentina. 61
31485838 2019
22
Hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with macrocytosis. 61
31324439 2019
23
Thirteen maxillary full dentures over 10 years: A case of peripheral painful traumatic trigeminal neuropathy. 61
31447327 2019
24
Atrophic Glossitis. 61
31618542 2019
25
Anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in atrophic glossitis patients with or without microcytosis. 61
31242967 2019
26
Diarrhea: a missed D in the 4D glucagonoma syndrome. 61
31807436 2019
27
Ulcerative, granulomatous glossitis and enteritis caused by Rhodococcus equi in a heifer. 61
31347467 2019
28
Combined zinc and vitamin B6 deficiency in a patient with diffuse red rash and angular cheilitis 6 years after Roux-en-Y gastric bypass. 61
31377720 2019
29
Identification of hypocrealean reptile pathogenic isolates with MALDI-TOF MS. 61
30445443 2019
30
Blood profile of atrophic glossitis patients with thyroglobulin antibody/thyroid microsomal antibody positivity but without gastric parietal cell antibody positivity. 61
31005374 2019
31
Hematinic deficiencies and hyperhomocysteinemia in gastric parietal cell antibody-positive or gastric and thyroid autoantibodies-negative atrophic glossitis patients. 61
30979649 2019
32
Pathological Findings in Lowland Tapirs (Tapirus terrestris) Killed by Motor Vehicle Collision in the Brazilian Cerrado. 61
31375157 2019
33
Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management. 61
31090139 2019
34
Gastric parietal cell and thyroid autoantibodies in patients with atrophic glossitis. 61
30736997 2019
35
World Workshop on Oral Medicine VII: Relative frequency of oral mucosal lesions in children, a scoping review. 61
31034120 2019
36
Geographic Tongue: What a Dermatologist Should Know. 61
31005233 2019
37
What are the best treatments for benign migratory glossitis? 61
31253960 2019
38
Ustekinumab-induced amelioration of both palmoplantar psoriasis and psoriatic glossitis. 61
31193589 2019
39
Reversible dementia, psychotic symptoms and epilepsy in a patient with vitamin B12 deficiency. 61
31092496 2019
40
[Hyperpigmentation due to Vitamin B12 Deficiency]. 61
30988222 2019
41
Anemia in Pregnancy Presenting as Acute Glossitis. 61
30244997 2019
42
Prevalence of oral mucosal disorders during pregnancy: A systematic review and meta-analysis. 61
30673134 2019
43
Prevalence of Oral Candidiasis in Indian HIV Sero-Positive Patients with CD4+ Cell Count Correlation. 61
30906728 2019
44
Plummer-Vinson Syndrome with Esophageal Web Formation in which Detailed Endoscopic Images Were Obtained. 61
30449792 2019
45
Erythematous and Vascular Oral Mucosal Lesions: A Clinicopathologic Review of Red Entities. 61
30693460 2019
46
Candidiasis: Red and White Manifestations in the Oral Cavity. 61
30693459 2019
47
Anxiety and genetic polymorphisms in catechol-O-methyltransferase (COMT) and serotonin transportation gene (5HTT) are associated with benign migratory glossitis. 61
30642702 2019
48
Septicemic Actinobacillus suis infection in a neonatal piglet with multifocal necrotic glossitis. 61
30606907 2019
49
Successful Treatment With Direct-Acting Antiviral Agents of Hepatitis C in Patients With End-Stage Renal Disease and Kidney Transplant Recipients. 61
30719954 2019
50
Anemia, hematinic deficiencies, and hyperhomocysteinemia in gastric parietal cell antibody-positive and -negative atrophic glossitis patients. 61
30581105 2019

Variations for Glossitis

Expression for Glossitis

Search GEO for disease gene expression data for Glossitis.

Pathways for Glossitis

Pathways related to Glossitis according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 KRT6B KRT6A KRT17 KRT16
2 11.99 TNF SLC6A4 IL6 IL1B
3
Show member pathways
11.82 TNF IL6 IL1B
4 11.8 TNF IL6 IL1B
5 11.79 TNF IL6 IL1B
6 11.78 TNF IL6 IL1B
7 11.74 TNF IL6 IL1B
8 11.63 TNF IL6 IL1B
9 11.61 TNF IL6 IL1B
10
Show member pathways
11.53 TNF IL6 IL1B
11 11.52 TNF IL6 IL1B
12 11.47 TNF IL6 IL1B
13 11.4 TNF IL6 IL1B
14 11.38 TNF IL6 IL1B
15
Show member pathways
11.35 TNF TCN2 IL6 IL1B CBLIF
16 11.32 TNF IL6 IL1B
17
Show member pathways
11.27 TNF SLC6A4 IL1B
18 11.18 TNF IL6 IL1B
19 11.12 TNF IL6 IL1B
20 11.05 TNF IL6 IL1B
21 10.99 TNF IL6 IL1B
22 10.9 TNF IL6 IL1B
23 10.71 TCN2 LMBRD1 CBLIF
24 10.66 IL6 IL1B
25 10.45 TCN2 LMBRD1 CBLIF

GO Terms for Glossitis

Cellular components related to Glossitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.28 TTR TNF TCN2 IL6 IL36RN IL1B
2 intermediate filament GO:0005882 9.26 KRT6B KRT6A KRT17 KRT16

Biological processes related to Glossitis according to GeneCards Suite gene sharing:

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.91 TNF IL6 IL36RN IL1B
2 inflammatory response GO:0006954 9.88 TNF KRT16 IL6 IL36RN IL1B
3 keratinization GO:0031424 9.84 KRT6B KRT6A KRT17 KRT16
4 cellular response to lipopolysaccharide GO:0071222 9.81 TNF IL6 IL36RN IL1B
5 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.77 TNF IL6 GCG
6 regulation of insulin secretion GO:0050796 9.75 TNF IL1B GCG
7 positive regulation of interleukin-6 production GO:0032755 9.7 TNF IL6 IL1B
8 cornification GO:0070268 9.67 KRT6B KRT6A KRT17 KRT16
9 positive regulation of leukocyte adhesion to vascular endothelial cell GO:1904996 9.63 TNF IL6
10 sodium ion export across plasma membrane GO:0036376 9.62 ATP4A ATP12A
11 cellular potassium ion homeostasis GO:0030007 9.62 ATP4A ATP12A
12 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.61 ATP4A ATP12A
13 positive regulation of chemokine biosynthetic process GO:0045080 9.6 TNF IL1B
14 negative regulation of lipid storage GO:0010888 9.58 TNF IL6
15 negative regulation of neurogenesis GO:0050768 9.58 TNF IL6 IL1B
16 regulation of establishment of endothelial barrier GO:1903140 9.57 TNF IL1B
17 positive regulation of hair follicle development GO:0051798 9.56 TNF KRT17
18 cobalt ion transport GO:0006824 9.55 TCN2 CBLIF
19 morphogenesis of an epithelium GO:0002009 9.5 KRT6A KRT17 KRT16
20 positive regulation of fever generation GO:0031622 9.49 TNF IL1B
21 sequestering of triglyceride GO:0030730 9.46 TNF IL1B
22 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.43 TNF IL1B
23 cobalamin metabolic process GO:0009235 9.43 TCN2 LMBRD1 CBLIF
24 positive regulation of glial cell proliferation GO:0060252 9.33 TNF IL6 IL1B
25 positive regulation of neuroinflammatory response GO:0150078 9.13 TNF IL6 IL1B
26 cobalamin transport GO:0015889 8.8 TCN2 LMBRD1 CBLIF

Molecular functions related to Glossitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.56 TNF IL6 IL36RN IL1B
2 structural constituent of cytoskeleton GO:0005200 9.54 KRT6B KRT6A KRT16
3 interleukin-1 receptor binding GO:0005149 9.4 IL36RN IL1B
4 sodium:potassium-exchanging ATPase activity GO:0005391 9.32 ATP4A ATP12A
5 potassium-transporting ATPase activity GO:0008556 9.16 ATP4A ATP12A
6 potassium:proton exchanging ATPase activity GO:0008900 8.96 ATP4A ATP12A
7 cobalamin binding GO:0031419 8.8 TCN2 LMBRD1 CBLIF

Sources for Glossitis

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
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