MCID: ATM002
MIFTS: 46

Autoimmune Polyendocrine Syndrome Type 1

Categories: Rare diseases, Endocrine diseases, Reproductive diseases, Immune diseases

Aliases & Classifications for Autoimmune Polyendocrine Syndrome Type 1

MalaCards integrated aliases for Autoimmune Polyendocrine Syndrome Type 1:

Name: Autoimmune Polyendocrine Syndrome Type 1 12 49 14
Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy 12 49
Autoimmune Polyendocrinopathy Syndrome Type 1 49 36
Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis 49
Autoimmune Polyglandular Syndrome Type 1 49
Polyglandular Autoimmune Syndrome Type 1 49
Polyglandular Type I Autoimmune Syndrome 69
Autoimmune Polyglandular Syndrome I 12
Whitaker Syndrom 12
Aps 1 49
Pga 1 49

Classifications:



External Ids:

Disease Ontology 12 DOID:0050167
KEGG 36 H01972
UMLS 69 C0085859

Summaries for Autoimmune Polyendocrine Syndrome Type 1

NIH Rare Diseases : 49 Autoimmune polyglandular syndrome type 1 is an inheritedautoimmune condition that affects many of the body's organs. Symptoms often begin in childhood or adolescence and may include mucocutaneous candidiasis, hypoparathyroidism, and Addison disease. Affected individuals typically have at least two of these features, and many have all three. This syndrome can cause a variety of additional signs and symptoms, although they occur less often. Complications of this disorder can affect the skin and nails, the gonads (ovaries and testicles), the eyes, the thyroid, and the digestive system. Type 1 diabetes also occurs in some patients with this condition. Mutations in the AIRE gene cause autoimmune polyglandular syndrome, type 1. This condition is inherited in an autosomal recessive fashion. Last updated: 12/28/2015

MalaCards based summary : Autoimmune Polyendocrine Syndrome Type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is related to alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity and autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia, and has symptoms including diarrhea An important gene associated with Autoimmune Polyendocrine Syndrome Type 1 is AIRE (Autoimmune Regulator), and among its related pathways/superpathways are Primary immunodeficiency and Neuroscience. The drugs Isoflurane and Propofol have been mentioned in the context of this disorder. Affiliated tissues include ovary, eye and skin, and related phenotypes are growth/size/body region and respiratory system

Disease Ontology : 12 An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs.

Related Diseases for Autoimmune Polyendocrine Syndrome Type 1

Diseases in the Autoimmune Polyendocrine Syndrome family:

Autoimmune Polyendocrine Syndrome, Type Ii Autoimmune Polyendocrine Syndrome Type 1

Diseases related to Autoimmune Polyendocrine Syndrome Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 31.4 AIRE IL17A
2 autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia 30.4 AIRE CASR CYP21A2 DDC TH TPH1
3 chronic mucocutaneous candidiasis 30.0 AIRE IL17A
4 hypoparathyroidism 29.7 AIRE CASR
5 autoimmune polyendocrine syndrome 29.3 AIRE CASR DDC IL17A NLRP5 TDRD6
6 whitaker syndrome 11.9
7 parathyroid gland disease 10.3 AIRE CASR
8 opportunistic mycosis 10.2 AIRE IL17A
9 autoimmune addison disease 10.1 AIRE CYP21A2
10 adrenal cortical hypofunction 10.1 AIRE CYP21A2
11 perry syndrome 10.1 TH TPH1
12 vitiligo-associated multiple autoimmune disease susceptibility 1 10.1 AIRE DDC
13 opiate dependence 10.1 TH TPH1
14 supratentorial primitive neuroectodermal tumor 10.1 DDC TH
15 pure autonomic failure 10.0 DDC TH
16 systemic lupus erythematosus 9.9
17 autoimmune hepatitis 9.9
18 hepatitis 9.9
19 candidiasis 9.9
20 intestinal disease 9.9
21 neuronitis 9.9
22 vasculitis 9.9
23 lupus erythematosus 9.9
24 hyperphenylalaninemia 9.9 TH TPH1
25 borderline personality disorder 9.9 TPH1 TPH2
26 mental depression 9.8 TPH1 TPH2
27 phenylketonuria 9.8 TH TPH1
28 personality disorder 9.8 TPH1 TPH2
29 hypoadrenocorticism, familial 9.8 AIRE CYP21A2 DDC
30 acute pancreatitis 9.7
31 pancreatitis 9.7
32 parkinson disease, late-onset 9.6 DDC TH TPH1
33 mood disorder 9.5 TH TPH1 TPH2
34 sudden infant death syndrome 9.5 TH TPH1 TPH2
35 attention deficit-hyperactivity disorder 9.5 TH TPH1 TPH2
36 schizophrenia 9.0 DDC TH TPH1 TPH2

Graphical network of the top 20 diseases related to Autoimmune Polyendocrine Syndrome Type 1:



Diseases related to Autoimmune Polyendocrine Syndrome Type 1

Symptoms & Phenotypes for Autoimmune Polyendocrine Syndrome Type 1

UMLS symptoms related to Autoimmune Polyendocrine Syndrome Type 1:


diarrhea

MGI Mouse Phenotypes related to Autoimmune Polyendocrine Syndrome Type 1:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.5 AIRE CASR DDC IL17A TH TPH1
2 respiratory system MP:0005388 9.02 AIRE IL17A TH TPH1 TPH2

Drugs & Therapeutics for Autoimmune Polyendocrine Syndrome Type 1

Drugs for Autoimmune Polyendocrine Syndrome Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
4 Anesthetics Phase 4
5 Anesthetics, General Phase 4
6 Anesthetics, Inhalation Phase 4
7 Anesthetics, Intravenous Phase 4
8 Central Nervous System Depressants Phase 4
9 Fat Emulsions, Intravenous Phase 4
10 Hypnotics and Sedatives Phase 4
11 Parenteral Nutrition Solutions Phase 4
12 Pharmaceutical Solutions Phase 4,Phase 2
13 Soybean oil, phospholipid emulsion Phase 4
14 Soy Bean Nutraceutical Phase 4
15 Tocopherol Approved, Investigational, Nutraceutical Phase 2, Phase 3
16
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
17 Tocopherols Phase 2, Phase 3
18 Tocotrienols Phase 2, Phase 3
19 Vitamins Phase 2, Phase 3
20 Omega 3 Fatty Acid Nutraceutical Phase 2, Phase 3
21 Tocotrienol Investigational, Nutraceutical Phase 2, Phase 3 6829-55-6
22
Dronabinol Approved, Illicit Phase 2 1972-08-3 16078 2978
23
Amphotericin B Approved, Investigational Phase 2 1397-89-3 5280965 14956
24
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
25 Analgesics Phase 2
26 Analgesics, Non-Narcotic Phase 2
27 Cannabinoid Receptor Agonists Phase 2
28 Hallucinogens Phase 2
29 Hormone Antagonists Phase 2
30 Hormones Phase 2
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
32 Neurotransmitter Agents Phase 2
33 Peripheral Nervous System Agents Phase 2
34 Psychotropic Drugs Phase 2
35 Anti-Bacterial Agents Phase 2
36 Antifungal Agents Phase 2
37 Anti-Infective Agents Phase 2
38 Antiparasitic Agents Phase 2
39 Antiprotozoal Agents Phase 2
40 Autoantibodies Phase 2
41 Liposomal amphotericin B Phase 2
42 Olive Nutraceutical Phase 2
43
Silicon Approved, Investigational 7440-21-3 4082203
44 Sulfalene
45 Acidophilus Nutraceutical
46 Bifidobacterium Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Propofol and Perioperative Inflammation Completed NCT01115179 Phase 4 propofol;Intralipid 10%;Saline
2 Indicated Prevention With Long-chain Polyunsaturated Omega-3 Fatty Acids in Patients With 22q11 Microdeletion Syndrome. Unknown status NCT02070211 Phase 2, Phase 3
3 Cannabinoids for Behavioral Problems in Children With ASD Recruiting NCT02956226 Phase 2 Cannabinoids - 99% pure cannabinoids mix;Placebo;Cannabinoids - whole plant extract
4 CAMB/MAT2203 in Patients With Mucocutaneous Candidiasis Recruiting NCT02629419 Phase 2 Amphotericin B
5 Does "Kinesio-taping" Affect Balance in Healthy Individuals? Completed NCT03219905
6 Natural History of Individuals With Immune System Problems That Lead to Fungal Infections Recruiting NCT01386437
7 Efficacy of Vivomixx on Behaviour and Gut Function in Autism Spectrum Disorder Recruiting NCT03369431
8 Studies of Disorders With Increased Susceptibility to Fungal Infections Recruiting NCT01222741

Search NIH Clinical Center for Autoimmune Polyendocrine Syndrome Type 1

Genetic Tests for Autoimmune Polyendocrine Syndrome Type 1

Anatomical Context for Autoimmune Polyendocrine Syndrome Type 1

MalaCards organs/tissues related to Autoimmune Polyendocrine Syndrome Type 1:

38
Ovary, Eye, Skin, Thyroid, Pituitary, T Cells

Publications for Autoimmune Polyendocrine Syndrome Type 1

Articles related to Autoimmune Polyendocrine Syndrome Type 1:

(show all 38)
# Title Authors Year
1
Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1. ( 29437776 )
2018
2
A new mutation site in the AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 28540407 )
2017
3
Identification of endothelin-converting enzyme-2 as an autoantigen in autoimmune polyendocrine syndrome type 1. ( 28557628 )
2017
4
Clonal Analysis of Regulatory T Cell Defect in Patients with Autoimmune Polyendocrine Syndrome Type 1 Suggests Intrathymic Impairment. ( 28736829 )
2017
5
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1. ( 28911151 )
2017
6
Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study. ( 28446514 )
2017
7
Altered Immune Activation and IL-23 Signaling in Response to Candida albicans in Autoimmune Polyendocrine Syndrome Type 1. ( 28919897 )
2017
8
Assessment of autoantibodies to interferon-I8 in patients with autoimmune polyendocrine syndrome type 1: using a new immunoprecipitation assay. ( 28099118 )
2017
9
Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism. ( 27219120 )
2016
10
Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1. ( 26830021 )
2016
11
A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1. ( 27253668 )
2016
12
Autoimmune hepatitis in a murine autoimmune polyendocrine syndrome type 1 model is directed against multiple autoantigens. ( 25475693 )
2015
13
Serological proteome analysis reveals new specific biases in the IgM and IgG autoantibody repertoires in autoimmune polyendocrine syndrome type 1. ( 26312540 )
2015
14
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature. ( 25361846 )
2014
15
A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1. ( 24792136 )
2014
16
New splice site acceptor mutation in AIRE gene in autoimmune polyendocrine syndrome type 1. ( 24988226 )
2014
17
Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity. ( 23182718 )
2013
18
Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1. ( 23365130 )
2013
19
A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1. ( 23342054 )
2013
20
Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1. ( 23122533 )
2013
21
Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab. ( 21901851 )
2012
22
Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. ( 22344197 )
2012
23
Novel neuronal and endocrine autoantibody targets in Autoimmune Polyendocrine Syndrome type 1. ( 22506635 )
2012
24
Autoimmune polyendocrine syndrome type 1: case report and review of literature. ( 22460196 )
2012
25
Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model. ( 21182094 )
2011
26
TSGA10 - A target for autoantibodies in autoimmune polyendocrine syndrome type 1 and systemic lupus erythematosus. ( 21198756 )
2011
27
Autoimmune polyendocrine syndrome type 1 in north-western France: AIRE gene mutation specificities and severe forms needing immunosuppressive therapies. ( 20453472 )
2010
28
Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen. ( 19251657 )
2009
29
Activating autoantibodies against the calcium-sensing receptor detected in two patients with autoimmune polyendocrine syndrome type 1. ( 19837919 )
2009
30
Autoimmune polyendocrine syndrome type 1 (APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2 (APS-2). ( 19382992 )
2009
31
Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity. ( 19382990 )
2009
32
Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen. ( 18322283 )
2008
33
[Apeced syndrome or autoimmune polyendocrine syndrome Type 1]. ( 18296018 )
2008
34
Pituitary autoantibodies in autoimmune polyendocrine syndrome type 1. ( 17215373 )
2007
35
Autoimmune polyendocrine syndrome type 1 in Norway: phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene. ( 17118990 )
2007
36
The calcium-sensing receptor is a target of autoantibodies in patients with autoimmune polyendocrine syndrome type 1. ( 17374709 )
2007
37
Autoimmune polyendocrine syndrome type 1 (APS I) in Norway. ( 11207636 )
2001
38
Tryptophan hydroxylase autoantibodies and intestinal disease in autoimmune polyendocrine syndrome type 1. ( 10470707 )
1999

Variations for Autoimmune Polyendocrine Syndrome Type 1

ClinVar genetic disease variations for Autoimmune Polyendocrine Syndrome Type 1:

6 (show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 AIRE NM_000383.3(AIRE): c.1163_1164insA (p.Met388Ilefs) insertion Pathogenic/Likely pathogenic rs386833672 GRCh37 Chromosome 21, 45712943: 45712944
2 AIRE NM_000383.3(AIRE): c.1616C> T (p.Pro539Leu) single nucleotide variant Pathogenic/Likely pathogenic rs179363889 GRCh37 Chromosome 21, 45717588: 45717588
3 AIRE NM_000383.3(AIRE): c.254A> G (p.Tyr85Cys) single nucleotide variant Pathogenic rs179363882 GRCh37 Chromosome 21, 45706561: 45706561
4 AIRE NM_000383.3(AIRE): c.463+2T> C single nucleotide variant Pathogenic/Likely pathogenic rs786204478 GRCh37 Chromosome 21, 45707018: 45707018
5 AIRE NM_000383.3(AIRE): c.1249dupC (p.Leu417Profs) duplication Pathogenic/Likely pathogenic rs786204567 GRCh38 Chromosome 21, 44293146: 44293146
6 AIRE NM_000383.3(AIRE): c.769C> T (p.Arg257Ter) single nucleotide variant Pathogenic rs121434254 GRCh37 Chromosome 21, 45709656: 45709656
7 AIRE NM_000383.3(AIRE): c.247A> G (p.Lys83Glu) single nucleotide variant Pathogenic rs121434255 GRCh37 Chromosome 21, 45706554: 45706554
8 AIRE NM_000383.3(AIRE): c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) deletion Pathogenic/Likely pathogenic rs386833675 GRCh37 Chromosome 21, 45711065: 45711077
9 AIRE NM_000383.3(AIRE): c.415C> T (p.Arg139Ter) single nucleotide variant Pathogenic rs121434256 GRCh37 Chromosome 21, 45706968: 45706968
10 AIRE NM_000383.3(AIRE): c.1103_1104insC (p.Leu370Alafs) insertion Pathogenic rs387906293 GRCh37 Chromosome 21, 45712883: 45712883
11 AIRE NM_000383.3(AIRE): c.1513delG (p.Ala505Profs) deletion Pathogenic rs387906294 GRCh37 Chromosome 21, 45716275: 45716275
12 AIRE NM_000383.3(AIRE): c.1A> T (p.Met1Leu) single nucleotide variant Pathogenic rs121434258 GRCh37 Chromosome 21, 45705890: 45705890
13 AIRE AIRE, 4-BP DUP, 205CAGG duplication Pathogenic
14 AIRE NM_000383.3(AIRE): c.239T> G (p.Val80Gly) single nucleotide variant Pathogenic rs267606642 GRCh37 Chromosome 21, 45706546: 45706546
15 AIRE NM_000383.3(AIRE): c.1265delC (p.Pro422Leufs) deletion Pathogenic rs886039556 GRCh37 Chromosome 21, 45713045: 45713045
16 AIRE NM_000383.3(AIRE): c.517C> T (p.Gln173Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1057517241 GRCh37 Chromosome 21, 45707453: 45707453
17 AIRE NC_000021.9: g.(?_44285987)_(44297747_?)del deletion Pathogenic GRCh37 Chromosome 21, 45705870: 45717630

Expression for Autoimmune Polyendocrine Syndrome Type 1

Search GEO for disease gene expression data for Autoimmune Polyendocrine Syndrome Type 1.

Pathways for Autoimmune Polyendocrine Syndrome Type 1

Pathways related to Autoimmune Polyendocrine Syndrome Type 1 according to KEGG:

36
# Name Kegg Source Accession
1 Primary immunodeficiency hsa05340

Pathways related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1 12.27 DDC TH TPH1 TPH2
3
Show member pathways
11.93 DDC TPH1 TPH2
4 11.83 DDC TH TPH1 TPH2
5 11.71 DDC TPH1 TPH2
6 11.54 DDC TH TPH1
7
Show member pathways
11.17 TH TPH2
8 11 DDC TH
9
Show member pathways
10.9 TH TPH1 TPH2
10 10.78 DDC TPH1 TPH2
11 10.64 DDC TH
12 10.54 DDC TH
13
Show member pathways
10.53 DDC TH TPH1 TPH2
14
Show member pathways
10.47 DDC TH TPH1

GO Terms for Autoimmune Polyendocrine Syndrome Type 1

Cellular components related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.13 CASR DDC TH
2 neuron projection GO:0043005 8.92 CASR TH TPH1 TPH2

Biological processes related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.86 CYP21A2 TH TPH1 TPH2
2 circadian rhythm GO:0007623 9.63 DDC TPH1 TPH2
3 response to calcium ion GO:0051592 9.59 CASR TPH2
4 response to nutrient levels GO:0031667 9.58 TH TPH2
5 cellular response to glucose stimulus GO:0071333 9.58 CASR TH
6 cellular response to growth factor stimulus GO:0071363 9.57 DDC TH
7 response to activity GO:0014823 9.55 TH TPH2
8 response to immobilization stress GO:0035902 9.54 TH TPH1
9 response to metal ion GO:0010038 9.52 CASR TH
10 multicellular organism aging GO:0010259 9.51 DDC TH
11 cellular response to alkaloid GO:0071312 9.49 DDC TH
12 dopamine biosynthetic process GO:0042416 9.48 DDC TH
13 catecholamine biosynthetic process GO:0042423 9.43 DDC TH
14 aminergic neurotransmitter loading into synaptic vesicle GO:0015842 9.4 DDC TH
15 response to pyrethroid GO:0046684 9.37 DDC TH
16 aromatic amino acid family metabolic process GO:0009072 9.33 TH TPH1 TPH2
17 isoquinoline alkaloid metabolic process GO:0033076 9.32 DDC TH
18 phytoalexin metabolic process GO:0052314 9.26 DDC TH
19 indolalkylamine biosynthetic process GO:0046219 9.13 DDC TPH1 TPH2
20 serotonin biosynthetic process GO:0042427 8.8 DDC TPH1 TPH2

Molecular functions related to Autoimmune Polyendocrine Syndrome Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.62 CYP21A2 TH TPH1 TPH2
2 iron ion binding GO:0005506 9.46 CYP21A2 TH TPH1 TPH2
3 tryptophan 5-monooxygenase activity GO:0004510 9.26 TPH1 TPH2
4 amino acid binding GO:0016597 9.13 CASR DDC TH
5 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen GO:0016714 8.8 TH TPH1 TPH2

Sources for Autoimmune Polyendocrine Syndrome Type 1

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