RS
MCID: RYS001
MIFTS: 52

Reye Syndrome (RS) malady

Categories: Rare diseases, Neuronal diseases, Bone diseases, Liver diseases

Aliases & Classifications for Reye Syndrome

Aliases & Descriptions for Reye Syndrome:

Name: Reye Syndrome 12 50 56 52 41 42 14 69
Reye's Syndrome 12 50 51
Fatty Liver with Encephalopathy 50
Rs 50

Classifications:



External Ids:

Disease Ontology 12 DOID:14525
ICD10 33 G93.7
ICD9CM 35 331.81
MeSH 42 D012202
NCIt 47 C34983
Orphanet 56 ORPHA3096
MESH via Orphanet 43 D012202
UMLS via Orphanet 70 C0035400
ICD10 via Orphanet 34 G93.7
UMLS 69 C0035400

Summaries for Reye Syndrome

NINDS : 51 Reye's syndrome (RS) is primarily a children's disease, although it can occur at any age. It affects all organs of the body but is most harmful to the brain and the liver--causing an acute increase of pressure within the brain and, often, massive accumulations of fat in the liver and other organs. RS is defined as a two-phase illness because it generally occurs in conjunction with a previous viral infection, such as the flu or chicken pox. The disorder commonly occurs during recovery from a viral infection, although it can also develop 3 to 5 days after the onset of the viral illness. RS is often misdiagnosed as encephalitis, meningitis, diabetes, drug overdose, poisoning, sudden infant death syndrome, or psychiatric illness. Symptoms of RS include persistent or recurrent vomiting, listlessness, personality changes such as irritability or combativeness, disorientation or confusion, delirium, convulsions, and loss of consciousness. If these symptoms are present during or soon after a viral illness, medical attention should be sought immediately. The symptoms of RS in infants do not follow a typical pattern; for example, vomiting does not always occur. Epidemiologic evidence indicates that aspirin (salicylate) is the major preventable risk factor for Reye's syndrome. The mechanism by which aspirin and other salicylates trigger Reye's syndrome is not completely understood. A "Reye's-like" illness may occur in children with genetic metabolic disorders and other toxic disorders. A physician should be consulted before giving a child any aspirin or anti-nausea medicines during a viral illness, which can mask the symptoms of RS.

MalaCards based summary : Reye Syndrome, also known as reye's syndrome, is related to severe combined immunodeficiency, athabascan type and hodgkin lymphoma, and has symptoms including back pain, headache and pain. An important gene associated with Reye Syndrome is HMGCL (3-Hydroxymethyl-3-Methylglutaryl-CoA Lyase), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Efavirenz and Lamivudine have been mentioned in the context of this disorder. Affiliated tissues include liver, brain and skin, and related phenotypes are behavior/neurological and homeostasis/metabolism

MedlinePlus : 41 reye syndrome is a rare illness that can affect the blood, liver, and brain of someone who has recently had a viral infection. it always follows another illness. although it mostly affects children and teens, anyone can get it. it can develop quickly and without warning. it is most common during flu season. symptoms include nausea and vomiting listlessness personality change - such as irritability, combativeness or confusion delirium convulsions loss of consciousness if these symptoms occur soon after a viral illness, seek medical attention immediately. reye syndrome can lead to a coma and brain death, so quick diagnosis and treatment are critical. treatment focuses on preventing brain damage. there is no cure. the cause of reye syndrome is unknown. studies have shown that taking aspirin increases the risk of getting it. because of that, health care professionals now recommend other pain relievers for young patients. nih: national institute of neurological disorders and stroke

Disease Ontology : 12 A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.

Wikipedia : 71 Reye syndrome is a rapidly progressive encephalopathy. Symptoms may include vomiting, personality... more...

Related Diseases for Reye Syndrome

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

(show top 50) (show all 57)
id Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency, athabascan type 11.6
2 hodgkin lymphoma 11.2
3 chickenpox 11.1
4 myelodysplastic syndrome 11.1
5 roberts syndrome 10.8
6 vitamin metabolic disorder 10.2 ACADM HMGCL
7 myosclerosis, congenital 10.2 HMGCL OTC
8 hermansky-pudlak syndrome 9 10.2 ACADM HMGCL
9 acute insulin response 10.2 ACADM HADHA
10 cystinosis, ocular nonnephropathic 10.2 HADHA HMGCL
11 pulmonary hypertension, neonatal 10.2 ASS1 OTC
12 hypogonadotropic hypogonadism with or without anosmia 10.2 OTC PC
13 gum cancer 10.2 ACADM PC
14 maple syrup urine disease, mild variant 10.2 ACADM HADHA
15 cardiomyopathy, dilated, 1j 10.2 ASS1 OTC
16 aneurysm, intracranial berry, 1 10.1 ASS1 OTC
17 pain disorder 10.1 ACADM HMGCL
18 c syndrome 10.1 ASS1 OTC
19 fibular hypoplasia 10.1 ACADM HADHA
20 waldenstrom macroglobulinemia 10.1 ASS1 OTC
21 osteopetrosis, autosomal recessive 2 10.1 OAT OTC
22 influenza 10.1
23 hepatitis 10.0
24 carnitine acetyltransferase deficiency 10.0 ASS1 OTC PC
25 chromosome xp21 deletion syndrome 10.0 ASS1 OTC
26 encephalopathy 10.0
27 obesity, morbid, due to leptin receptor deficiency 10.0 ACADM HADHA HMGCL OTC
28 atrial fibrillation, familial, 4 10.0 ACADM PC
29 hyperekplexia 2, autosomal recessive 10.0 ACADM HMGCL OTC PC
30 retinitis pigmentosa 4, autosomal dominant or recessive 9.9 ACADM ASS1 HMGCL OTC
31 cerebritis 9.8
32 obesity 9.8
33 connective tissue disease 9.7
34 kawasaki disease 9.7
35 hiv-1 9.7
36 ovarian cancer 9.7
37 fabry disease 9.7
38 schizophrenia 9.7
39 systemic lupus erythematosus 9.6
40 3-methylglutaconic aciduria 9.6
41 gastroenteritis 9.6
42 plasma fibronectin deficiency 9.6
43 acute pancreatitis 9.6
44 sudden infant death syndrome 9.6
45 myopathy 9.6
46 pancreatitis 9.6
47 herpes simplex 9.6
48 west syndrome 9.6
49 lupus erythematosus 9.6
50 arthritis 9.6

Graphical network of the top 20 diseases related to Reye Syndrome:



Diseases related to Reye Syndrome

Symptoms & Phenotypes for Reye Syndrome

UMLS symptoms related to Reye Syndrome:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness

MGI Mouse Phenotypes related to Reye Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.87 ASS1 CES1 HMGCL OAT OTC PC
2 homeostasis/metabolism MP:0005376 9.85 ACADM ASS1 CES1 HADHA HMGCL HMGCR
3 growth/size/body region MP:0005378 9.8 ASS1 HADHA HMGCL HMGCR OAT OTC
4 liver/biliary system MP:0005370 9.5 ACADM CES1 HADHA HMGCL HMGCR OTC
5 mortality/aging MP:0010768 9.23 OAT OTC PC ACADM ASS1 HADHA

Drugs & Therapeutics for Reye Syndrome

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

(show top 50) (show all 116)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
2
Lamivudine Approved, Investigational Phase 4,Phase 3 134678-17-4 60825
3
Lopinavir Approved Phase 4 192725-17-0 92727
4
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
5
Zidovudine Approved Phase 4 30516-87-1 35370
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Metformin Approved Phase 4 657-24-9 14219 4091
9 Anti-HIV Agents Phase 4,Phase 3
10 Anti-Infective Agents Phase 4,Phase 3,Phase 2
11 Antimetabolites Phase 4,Phase 3
12 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2
13 Antiviral Agents Phase 4,Phase 3,Phase 2
14 Cytochrome P-450 CYP2C9 Inhibitors Phase 4
15 Cytochrome P-450 CYP3A Inducers Phase 4
16 Cytochrome P-450 CYP3A Inhibitors Phase 4
17 Cytochrome P-450 Enzyme Inhibitors Phase 4
18 HIV Protease Inhibitors Phase 4,Phase 3
19 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 3
20
protease inhibitors Phase 4,Phase 3
21 Reverse Transcriptase Inhibitors Phase 4,Phase 3
22 Antiemetics Phase 4
23 Anti-Inflammatory Agents Phase 4
24 Antineoplastic Agents, Hormonal Phase 4
25 Autonomic Agents Phase 4
26 Gastrointestinal Agents Phase 4
27 glucocorticoids Phase 4
28 Hormone Antagonists Phase 4
29 Hormones Phase 4
30 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
31 Methylprednisolone acetate Phase 4
32 Methylprednisolone Hemisuccinate Phase 4
33 Neuroprotective Agents Phase 4
34 Peripheral Nervous System Agents Phase 4
35 Prednisolone acetate Phase 4
36 Prednisolone hemisuccinate Phase 4
37 Prednisolone phosphate Phase 4
38 Protective Agents Phase 4,Phase 2
39 Hypoglycemic Agents Phase 4
40
Angiotensin II Phase 4 68521-88-0, 11128-99-7 65143 172198
41 Angiotensin Receptor Antagonists Phase 4
42 Angiotensin-Converting Enzyme Inhibitors Phase 4
43 Angiotensinogen Phase 4
44 Serine Proteinase Inhibitors Phase 4,Phase 3
45 Vasoconstrictor Agents Phase 4
46 serine Nutraceutical Phase 4,Phase 3
47
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
48
Salicylic acid Approved, Vet_approved Phase 3 69-72-7 338
49
Ticagrelor Approved Phase 3 274693-27-5 9871419
50
Pitavastatin Approved Phase 3 147511-69-1, 147526-32-7 6366718 5282452

Interventional clinical trials:

(show all 27)
id Name Status NCT ID Phase
1 PI Vs. NNRTI Based Therapy for HIV Advanced Disease Unknown status NCT00162643 Phase 4
2 6-Methyl-Prednisolone for Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4
3 Medical Nutrition Therapy Plus Transgestational Metformin For Preventing Gestational Diabetes In High Risk Mexican Women Completed NCT01675310 Phase 4
4 Colloids in Severe Trauma Completed NCT00890383 Phase 4
5 CPAP Effect on Albuminuria in Patients With Diabetic Nephropathy and Obstructive Sleep Apnea Recruiting NCT02816762 Phase 4
6 Amniotic Fluid Optical Density Determination as a Test for Assessment of Fetal Lung Maturity. Completed NCT02332304 Phase 3
7 The Stabilization Of pLaques usIng Darapladib-Thrombolysis In Myocardial Infarction 52 Trial Completed NCT01000727 Phase 3
8 A Study With Aleglitazar in Patients With a Recent Acute Coronary Syndrome and Type 2 Diabetes Mellitus Completed NCT01042769 Phase 3
9 Prevention of Cardiovascular Events (eg, Death From Heart or Vascular Disease, Heart Attack, or Stroke) in Patients With Prior Heart Attack Using Ticagrelor Compared to Placebo on a Background of Aspirin Completed NCT01225562 Phase 3
10 Evaluating the Use of Pitavastatin to Reduce the Risk of Cardiovascular Disease in HIV-Infected Adults Recruiting NCT02344290 Phase 3
11 ODYSSEY Outcomes: Evaluation of Cardiovascular Outcomes After an Acute Coronary Syndrome During Treatment With Alirocumab Active, not recruiting NCT01663402 Phase 3
12 Study to Evaluate the Efficacy, Safety, and Tolerability of Long-acting Intramuscular Cabotegravir and Rilpivirine for Maintenance of Virologic Suppression Following Switch From an Integrase Inhibitor in HIV-1 Infected Therapy Naive Participants Active, not recruiting NCT02938520 Phase 3
13 Phase III Acute Coronary Syndrome Terminated NCT00831441 Phase 3
14 Intralesional Bevacizumab for Treating AIDS-associated Kaposi´s Sarcoma of the Larynx, Pharynx and Oral Cavity Completed NCT01296815 Phase 2
15 Safety and Efficacy Study of Subcutaneous Belimumab and Intravenous Rituximab Co-administration in Subjects With Primary Sjogren's Syndrome Recruiting NCT02631538 Phase 2
16 L-Arginine and Antioxidant Vitamins During Pregnancy to Reduce Preeclampsia Terminated NCT00469846 Phase 2
17 Restless Leg Syndrome and Severe Preeclampsia Unknown status NCT01538147
18 Antiphospholipid Antibodies and Fetal Growth Restriction Unknown status NCT01538134
19 Antiphospholipid Antibodies and Early Severe Preeclampsia. Unknown status NCT01538121
20 Intracranial Hypertension and Optic Nerve Sheath Diameter Completed NCT01796015
21 Study Evaluating How Patients With Acute Coronary Syndrome Are Managed During 2 Years After Discharge Completed NCT01171404
22 Metabolic Changes in Prostate Cancer Patients With Androgen-ablation Therapy (AAT) Completed NCT01284608
23 Omega 3 Polyunsaturated Fatty Acids (PUFA) or Magnesium in Obese Polycystic Ovary Syndrome Patients Recruiting NCT02521753
24 A Study to Monitor the Use of an Amino Acid-Based Infant Formula Recruiting NCT02953223
25 Registry to Improve the Adoption of Consensus Treatment Guidelines (IMPROVE Brady) Recruiting NCT01643707
26 Effect of Resveratrol and Vitamin C on Insulin Resistance Among Postmenopausal Women Not yet recruiting NCT03090997
27 Simultaneous Versus Sequential Antiretroviral Therapy (ARV) Therapy and Mycobacterium Tuberculosis (MTB) Treatment Terminated NCT00737724

Search NIH Clinical Center for Reye Syndrome

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: reye syndrome

Genetic Tests for Reye Syndrome

Anatomical Context for Reye Syndrome

MalaCards organs/tissues related to Reye Syndrome:

39
Liver, Brain, Skin, Bone, Kidney, Thalamus, Pons

Publications for Reye Syndrome

Articles related to Reye Syndrome:

(show top 50) (show all 223)
id Title Authors Year
1
Impact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's box. ( 25761966 )
2015
2
Hyponatremic seizures and Reye syndrome. ( 23829993 )
2013
3
Magnetic resonance imaging findings in Reye syndrome: case report and review of the literature. ( 21633106 )
2011
4
Did the patient have Reye syndrome? ( 21980824 )
2011
5
Acute encephalopathy of Bacillus cereus mimicking Reye syndrome. ( 19796886 )
2010
6
Reye syndrome and liver transplantation. ( 21428204 )
2010
7
Reye syndrome: a case report with review of literature. ( 18552890 )
2008
8
Reye syndrome and reye-like syndrome. ( 18725066 )
2008
9
Aspirin and Reye syndrome: a review of the evidence. ( 17523700 )
2007
10
Aspirin and Reye syndrome. ( 17523701 )
2007
11
The thalamus and midbrain in Reye syndrome. ( 16648004 )
2006
12
Impaired fatty acid utilization in thioredoxin binding protein-2 (TBP-2)-deficient mice: a unique animal model of Reye syndrome. ( 16254043 )
2006
13
A case of Reye syndrome with rotavirus infection accompanied with high cytokines. ( 16226809 )
2006
14
Aspirin, Reye syndrome, Kawasaki disease, and allergies; a reconsideration of the links. ( 15557065 )
2004
15
[Reye syndrome and drug induced encephalopathy]. ( 15152490 )
2003
16
Reye syndrome. ( 12865641 )
2003
17
Reassessing Reye syndrome. ( 14662583 )
2003
18
Rotavirus, hepatitis and Reye syndrome. ( 12354277 )
2002
19
A fatal case of Reye syndrome after varicella and ingestion of aspirin. ( 11436370 )
2001
20
Reye syndrome--insights on causation and prognosis. ( 11668090 )
2001
21
Rotavirus gastroenteritis possibly causing reye syndrome. ( 10852203 )
2000
22
Reye syndrome revisited: a descriptive term covering a group of heterogeneous disorders. ( 11014461 )
2000
23
A long-term follow-up of cognitive, emotional, and behavioural sequelae to Reye syndrome. ( 10479043 )
1999
24
Reye's syndrome and salicylate use, by Karen M. Starko, MD, et al, Pediatrics, 1980;66:859-864; and National patterns of aspirin use and Reye syndrome reporting, United States, 1980 to 1985, by Janet B. Arrowsmith et al, Pediatrics, 1987;79:858-863. ( 9729163 )
1998
25
Single-photon emission CT and MR findings in KlA1ver-Bucy syndrome after Reye syndrome. ( 9090419 )
1997
26
Frequency of 985A-to-G mutation in medium-chain acyl-CoA dehydrogenase gene among patients with sudden infant death syndrome, Reye syndrome, severe motor and intellectual disabilities and healthy newborns in Japan. ( 8840534 )
1996
27
Reye syndrome model in rats: protection against liver abnormalities by L-carnitine and acetyl-L-carnitine. ( 7473134 )
1995
28
Reye syndrome: an international perspective. ( 8882577 )
1995
29
Medium-chain acyl-CoA dehydrogenase deficiency is not a cause of previously diagnosed Reye syndrome. ( 7474911 )
1995
30
3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy. ( 8598651 )
1995
31
Fructose-1,6-diphosphatase deficiency misdiagnosed as Reye syndrome. ( 8591687 )
1995
32
[A case of clinical Reye syndrome with symmetrical abnormal signal areas in the pons and thalami by MRI]. ( 8280450 )
1994
33
Reye syndrome associated with subclinical varicella zoster virus and influenza A infection. ( 8388687 )
1993
34
Symmetrical thalamic lesions on CT in influenza A virus infection presenting with or without Reye syndrome. ( 7687829 )
1993
35
Medium-chain acylcoenzyme-A dehydrogenase deficiency. Not just another Reye syndrome. ( 8116590 )
1993
36
Kawasaki disease with Reye syndrome: report of one case. ( 1626454 )
1992
37
Reye syndrome. ( 1537363 )
1992
38
A sibling-controlled study of intelligence and academic performance following Reye syndrome. ( 1936633 )
1991
39
Liver histopathology in clinical Reye syndrome. ( 1892227 )
1991
40
Ca2+ responses to interleukin 1 and tumor necrosis factor in cultured human skin fibroblasts. Possible implications for Reye syndrome. ( 1847937 )
1991
41
Reye syndrome or side-effects of anti-emetics? ( 1655459 )
1991
42
Reye syndrome surveillance, 1989--United States. ( 1889094 )
1991
43
Neuropathologic findings in Reye syndrome. ( 2002200 )
1991
44
Reye syndrome surveillance--United States, 1989. ( 1899129 )
1991
45
Interrelationships of liver and brain with special reference to Reye syndrome. ( 1749212 )
1991
46
Role of influenza B virus in hepatic steatosis and mitochondrial abnormalities in a mouse model of Reye syndrome. ( 1846348 )
1991
47
From the Centers for Disease Control. Reye syndrome surveillance--United States, 1989. ( 1992203 )
1991
48
Argininosuccinate synthetase deficiency and reye syndrome-like presentation. ( 15815320 )
1990
49
Reye syndrome. ( 2386709 )
1990
50
Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome. ( 2279505 )
1990

Variations for Reye Syndrome

Expression for Reye Syndrome

Search GEO for disease gene expression data for Reye Syndrome.

Pathways for Reye Syndrome

Pathways related to Reye Syndrome according to GeneCards Suite gene sharing:

(show all 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.49 ACADM ASS1 CES1 HADHA HMGCL HMGCR
2
Show member pathways
12.49 ACADM HADHA HMGCL HMGCR SCD
3
Show member pathways
11.71 ACADM HADHA HMGCL
4
Show member pathways
11.67 ACADM ASS1 HADHA OTC PC
5
Show member pathways
11.51 ACADM HADHA SCD
6
Show member pathways
11.4 ACADM HADHA
7
Show member pathways
11.29 ACADM HADHA
8
Show member pathways
11.24 HADHA SCD
9
Show member pathways
11.13 HADHA HMGCL
10
Show member pathways
11.07 ACADM HADHA
11 11.06 ACADM ASS1 HMGCL OAT OTC PC
12
Show member pathways
11.03 ASS1 OTC
13 11.02 ACADM HADHA
14 10.84 PC SCD
15
Show member pathways
10.81 ASS1 OAT OTC
16 10.76 HMGCR SCD
17
Show member pathways
10.55 ASS1 PC
18
Show member pathways
10.4 ACADM HADHA

GO Terms for Reye Syndrome

Cellular components related to Reye Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.5 ACADM ASS1 HADHA HMGCL OAT OTC
2 mitochondrial matrix GO:0005759 9.02 ACADM HMGCL OAT OTC PC

Biological processes related to Reye Syndrome according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 ACADM HADHA HMGCR SCD
2 metabolic process GO:0008152 9.71 ACADM CES1 HADHA PC
3 fatty acid metabolic process GO:0006631 9.54 ACADM HADHA SCD
4 fatty acid beta-oxidation GO:0006635 9.52 ACADM HADHA
5 cholesterol biosynthetic process GO:0006695 9.49 CES1 HMGCR
6 protein tetramerization GO:0051262 9.48 HMGCL HMGCR
7 regulation of cholesterol biosynthetic process GO:0045540 9.46 HMGCR SCD
8 response to starvation GO:0042594 9.43 ACADM HMGCL
9 cellular amino acid biosynthetic process GO:0008652 9.33 ASS1 OAT OTC
10 urea cycle GO:0000050 9.32 ASS1 OTC
11 arginine biosynthetic process GO:0006526 9.26 ASS1 OTC
12 lipid metabolic process GO:0006629 9.1 ACADM HADHA HMGCL HMGCR PC SCD
13 medium-chain fatty acid metabolic process GO:0051791 8.96 ACADM CES1

Molecular functions related to Reye Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 ACADM HADHA HMGCR SCD
2 catalytic activity GO:0003824 9.43 HADHA HMGCL PC
3 amino acid binding GO:0016597 8.96 ASS1 OTC
4 fatty-acyl-CoA binding GO:0000062 8.62 HADHA HMGCL

Sources for Reye Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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