MCID: PRC019
MIFTS: 51

Precocious Puberty malady

Categories: Rare diseases, Endocrine diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Precocious Puberty

Aliases & Descriptions for Precocious Puberty:

Name: Precocious Puberty 50 29 69
Cryptogenic Sexual Precocity 69
Familial Precocious Puberty 50
Idiopathic Sexual Precocity 50
Puberty Precocious 52
Sexual Precocity 50

Classifications:



External Ids:

ICD10 33 E30.1

Summaries for Precocious Puberty

NIH Rare Diseases : 50 precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. the start of puberty depends on various factors such as family history, nutrition and gender. the cause of precocious puberty is not always known. some cases of precocious puberty are due to conditions that cause changes in the body's release of hormones. treatment involves medications that can stop the release of sexual hormones. last updated: 12/21/2012

MalaCards based summary : Precocious Puberty, also known as cryptogenic sexual precocity, is related to central precocious puberty and precocious puberty, male. An important gene associated with Precocious Puberty is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways/superpathways are Peptide ligand-binding receptors and Phospholipase-C Pathway. The drugs Leuprolide and Metformin have been mentioned in the context of this disorder. Affiliated tissues include pituitary, brain and testes, and related phenotypes are endocrine/exocrine gland and integument

Wikipedia : 71 In medicine, precocious puberty is puberty occurring at an unusually early age. In most cases, the... more...

Related Diseases for Precocious Puberty

Diseases in the Precocious Puberty family:

Precocious Puberty, Central, 2 Precocious Puberty, Central, 1
Central Precocious Puberty Secondary Central Precocious Puberty

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

(show top 50) (show all 194)
id Related Disease Score Top Affiliating Genes
1 central precocious puberty 12.6
2 precocious puberty, male 12.5
3 familial male-limited precocious puberty 12.5
4 precocious puberty, central, 2 12.4
5 precocious puberty, central, 1 12.4
6 idiopathic central precocious puberty 12.2
7 spastic paraplegia with precocious puberty 12.1
8 secondary central precocious puberty 12.1
9 testotoxicosis 12.0
10 precocious puberty, gonadotropin-dependent 12.0
11 x-linked intellectual disability-precocious puberty-obesity syndrome 12.0
12 mccune-albright syndrome, somatic, mosaic 11.8
13 hypothalamic hamartomas 11.5
14 carpenter syndrome 11.1
15 mental retardation, x-linked 102 10.9
16 adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency 10.9
17 ovarian sex cord tumor with annular tubules 10.9
18 polyembryoma 10.9
19 hypothyroidism 10.3
20 periodic fever, aphthous stomatitis, pharyngitis and adenitis 10.2 GNRH1 LHCGR
21 obesity 10.2
22 aromatase excess syndrome 10.2
23 deafness, autosomal recessive 74 10.1 GNRH1 IGF1
24 growth hormone deficiency 10.1
25 insulin-like growth factor i 10.1
26 uterine ligament cancer 10.1 GNAS IGF1
27 epileptic encephalopathy, early infantile, 26 10.1 GNAS GNRH1
28 pituitary adenoma, acth-secreting 10.1 GNAS IGF1
29 intermittent squint 10.1 GH1 GNRH1
30 renal-hepatic-pancreatic dysplasia 10.1 GNRH1 IGF1
31 hyperandrogenism 10.1
32 congenital adrenal hyperplasia 10.1
33 epilepsy 10.1
34 olfactory nerve neoplasm 10.1 GH1 GNRH1
35 microtia, hearing impairment, and cleft palate 10.1 GH1 IGF1
36 spondylometaphyseal dysplasia, megarbane-dagher-melike type 10.1 GH1 IGF1
37 haverhill fever 10.1 GNRH1 IGF1
38 adams-oliver syndrome 6 10.1 GH1 GNRH1
39 epileptic encephalopathy, early infantile, 24 10.1 GH1 IGF1
40 grin2a-related speech disorders and epilepsy 10.1 GH1 GNAS
41 protein s deficiency 10.1 GH1 IGF1
42 caudal regression syndrome 10.1 GH1 IGF1
43 leydig cell tumor 10.1
44 neurofibromatosis 10.1
45 polycystic ovary syndrome 10.1
46 teratoma 10.1
47 adenoma 10.1
48 vaginitis 10.1
49 microvascular complications of diabetes 3 10.1 GH1 IGF1
50 epidural spinal canal meningioma 10.0 GNRH1 IGF1

Graphical network of the top 20 diseases related to Precocious Puberty:



Diseases related to Precocious Puberty

Symptoms & Phenotypes for Precocious Puberty

MGI Mouse Phenotypes related to Precocious Puberty:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 KISS1R LHCGR GNAS GNRH1 IGF1 KISS1
2 integument MP:0010771 9.35 GNAS GNRH1 IGF1 KISS1 KISS1R
3 renal/urinary system MP:0005367 9.1 GNAS GNRH1 IGF1 KISS1 KISS1R LHCGR

Drugs & Therapeutics for Precocious Puberty

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

(show top 50) (show all 68)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Leuprolide Approved, Investigational Phase 4,Phase 2,Phase 3,Early Phase 1 53714-56-0 3911 657181
2
Metformin Approved Phase 4 657-24-9 14219 4091
3 Deslorelin Phase 4,Phase 2,Phase 3
4 Triptorelin Pamoate Phase 4,Phase 3
5 Contraceptive Agents Phase 4,Phase 3
6 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
7 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
9 Fertility Agents Phase 4,Phase 2,Phase 3,Early Phase 1
10 Luteolytic Agents Phase 4,Phase 3
11 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Early Phase 1
12 insulin Phase 4
13 Hypoglycemic Agents Phase 4
14 Insulin, Globin Zinc Phase 4
15 Pharmaceutical Solutions Phase 3,Phase 2
16
Testosterone Approved, Investigational Phase 2 58-22-0 6013
17
Spironolactone Approved Phase 2 1952-01-7, 52-01-7 5833
18
Anastrozole Approved, Investigational Phase 2 120511-73-1 2187
19
Testolactone Approved Phase 2 968-93-4 13769
20
Methyltestosterone Approved Phase 2 58-18-4 6010
21
Bicalutamide Approved Phase 2 90357-06-5 56069 2375
22
Fulvestrant Approved, Investigational Phase 2 129453-61-8 104741 17756771
23 Testosterone undecanoate Phase 2
24 diuretics Phase 2
25 Natriuretic Agents Phase 2
26 Steroid Synthesis Inhibitors Phase 2,Phase 1
27 Testosterone 17 beta-cypionate Phase 2
28
Testosterone enanthate Phase 2 315-37-7 9416
29 Androgens Phase 2,Phase 1
30 Diuretics, Potassium Sparing Phase 2
31 Estrogen Antagonists Phase 2,Phase 1
32 Estrogens Phase 2,Phase 1
33 Prolactin Release-Inhibiting Factors Phase 2
34 Mineralocorticoid Receptor Antagonists Phase 2
35 Mineralocorticoids Phase 2
36 Aromatase Inhibitors Phase 2,Phase 1
37 Bone Density Conservation Agents Phase 1, Phase 2
38 Calcium, Dietary Phase 1, Phase 2
39 Androgen Antagonists Phase 2
40 Estrogen Receptor Antagonists Phase 2
41
Letrozole Approved, Investigational Phase 1 112809-51-5 3902
42
Oxandrolone Approved, Investigational Phase 1 53-39-4 5878
43 Anabolic Agents Phase 1
44
Histamine Approved, Investigational 75614-87-8, 51-45-6 774
45
Zinc Approved 7440-66-6 32051 23994
46
Epinephrine Approved, Vet_approved 51-43-4 5816
47
Ganirelix Approved Early Phase 1 123246-29-7, 124904-93-4 25081094
48
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
49
Menotropins Approved 61489-71-2 5360545
50
Histamine Phosphate 51-74-1 65513

Interventional clinical trials:

(show top 50) (show all 56)
id Name Status NCT ID Phase
1 Analysis of Genetic and Environmental Parameters Influencing Growth Rate of Precocious Puberty Children Unknown status NCT00438217 Phase 4
2 Comparative Validation of the Triptorelin Test for the Diagnosis of CPP in Girls Unknown status NCT01278290 Phase 4
3 A 4 Year Combination Therapy of Growth Hormone and (GnRH) Agonist in Children With a Short Predicted Height Unknown status NCT00840944 Phase 4
4 Study of Comprehensive Diagnosis and Treatment for Children Precocious Puberty Completed NCT02920515 Phase 4
5 The Clinical Trial to Evaluate the Efficacy and Safety of Luphere Depot Inj. 3.75mg(Leuprolide Acetate 3.75mg) in Patients With Precocious Puberty Completed NCT01634321 Phase 4
6 Analysis of Body Mass Index in Central Precocious Puberty Patients Treated With Leuprolide Acetate Recruiting NCT02974270 Phase 4
7 A Study to Assess the Safety and Efficacy of Leuprorelin in Central Precocious Puberty in Chinese Patients Active, not recruiting NCT02427958 Phase 4
8 The Health Influences of Puberty (HIP) Study Active, not recruiting NCT01775813 Phase 4
9 Understanding Experimentally Induced Hot Flushes Unknown status NCT00455689 Phase 2, Phase 3
10 Efficacy, Safety, and Pharmacokinetics (PK) of Triptorelin 6-month Formulation in Patients With Central Precocious Puberty Completed NCT01467882 Phase 3
11 Histrelin Subcutaneous Implant in Children With Central Precocious Puberty Completed NCT00779103 Phase 3
12 Efficacy and Safety Study of Pamoate of Triptorelin in Children With Precocious Puberty Completed NCT00564850 Phase 3
13 Effects of Triptorelin Pamoate in Children With Precocious Puberty - Follow up Study Completed NCT00909844 Phase 3
14 Safety Extension Study Of Leuprolide Acetate (Lupron Depot) In The Treatment Of Central Precocious Puberty Completed NCT00667446 Phase 3
15 Study of Lupron Depot In The Treatment of Central Precocious Puberty Completed NCT00660010 Phase 3
16 A Study of Leuprolide 11.25 mg and 30 mg Administered Every 3 Months to Treat Central Precocious Puberty Completed NCT00635817 Phase 3
17 A Study of the Effects of Pegvisomant on Growth Hormone Excess in McCune-Albright Syndrome Completed NCT00017927 Phase 3
18 Pharmacokinetic Study of Leuprolide Acetate Injectable Suspension in the Treatment of Central Precocious Puberty Recruiting NCT02452931 Phase 3
19 Severe Decrease of Growth Velocity in Children With Anorexia Nervosa.Therapeutic Trial of Growth Hormone Recruiting NCT01626833 Phase 2, Phase 3
20 Treatment of Boys With Precocious Puberty Completed NCT00001202 Phase 2
21 Testolactone for the Treatment of Girls With LHRH Resistant Precocious Puberty Completed NCT00001181 Phase 2
22 Encouraging Calcium Absorption and Bone Formation During Early Puberty Completed NCT00022867 Phase 1, Phase 2
23 Arimidex in McCune Albright Syndrome Completed NCT00055302 Phase 2
24 Study of Luteinizing Hormone-Releasing Hormone Analog (LHRHa) in Pubertal Patients With Extreme Short Stature Completed NCT00001190 Phase 2
25 Pediatrics Testotoxicosis Study [Bicalutamide Anastrozole Treatment for Testotoxicosis] Active, not recruiting NCT00094328 Phase 2
26 Faslodex in McCune Albright Syndrome Active, not recruiting NCT00278915 Phase 2
27 Effects of Letrozole on Precocious Puberty Due to McCune Albright Syndrome Completed NCT00006174 Phase 1
28 Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in Infants Active, not recruiting NCT01048632 Phase 1
29 Markers of Pubertal Suppression During Therapy for Precocious Puberty Unknown status NCT02006680
30 First-Voided Urinary LH vs. GnRH-stimulation in Differentiating Slowly- From Rapidly Progressive-Precocious Puberty Unknown status NCT01800565
31 Follow-up of Girls With Premature Thelarche and Precocious Puberty Unknown status NCT01944475
32 LH Response to GnRH Test in Prepubescent Girls Under 6 Years Unknown status NCT01944488
33 Ultrasound Evaluation of Bone Age in Healthy Children Unknown status NCT01980693
34 Histamine Responsiveness in McCune-Albright Syndrome Unknown status NCT00318097
35 Impact of Hot Flashes on Sleep and Mood Disturbance Unknown status NCT01116401
36 Purification of Testis-Stimulating Factor in Precocious Puberty Completed NCT00004344
37 Psychosocial Impact of Early Puberty in Girls Aged 6 to 8 Years Completed NCT01679925
38 Follicle-Stimulating Hormone (FSH) and the Onset of Puberty Completed NCT00734279 Early Phase 1
39 Study of Gonadotropin-Releasing Hormone Pulse Frequency in Sexual Maturation and in the Menstrual Cycle Completed NCT00004335
40 Exercise in Insulin-Resistant Minority Adolescents Completed NCT00345436
41 Biochemical and Radiological Indicators of Cardiovascular Morbidity in Children With Premature Pubarche Completed NCT00581490
42 Clinical Trial of Experienced Chinese Herbal Formulas on Different Types of Precocious Puberty Recruiting NCT02650141
43 Effect of a GnRH Injection on Ghrelin Concentrations in Girls With Suspected Premature Puberty Recruiting NCT02431416
44 The Effect of Medical Clown on the Pain and Anxiety Perception During LRH Analog Treatment or GH Provocation Test Recruiting NCT02199587
45 Association Between Soy Based Formula in Infancy and Puberty Recruiting NCT02908971
46 Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome Recruiting NCT00001727
47 Inherited Reproductive Disorders Recruiting NCT01500447
48 Ovarian Contribution to Androgen Production in Adolescent Girls Recruiting NCT01421810
49 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
50 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169

Search NIH Clinical Center for Precocious Puberty

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


Genetic Tests for Precocious Puberty

Genetic tests related to Precocious Puberty:

id Genetic test Affiliating Genes
1 Precocious Puberty 29

Anatomical Context for Precocious Puberty

MalaCards organs/tissues related to Precocious Puberty:

39
Pituitary, Brain, Testes, Bone, Ovary, Pineal, Hypothalamus

Publications for Precocious Puberty

Articles related to Precocious Puberty:

(show top 50) (show all 876)
id Title Authors Year
1
Effects of pomegranate extract in supplementing gonadotropin-releasing hormone therapy on idiopathic central precocious puberty in Chinese girls: a randomized, placebo-controlled, double-blind clinical trial. ( 28091641 )
2017
2
Marshall-Smith syndrome: Novel pathogenic variant and previously unreported associations with precocious puberty and aortic root dilatation. ( 28442439 )
2017
3
Peripheral Precocious Puberty due to Functioning Adrenocortical Tumor: Description of Two Cases. ( 27666809 )
2017
4
Predictive Value of Dental Maturity for a Positive Gonadotropin-Releasing Hormone Stimulation Test Result in Girls with Precocious Puberty. ( 28049241 )
2017
5
Genetic Variations of the KISS1R Gene in Korean Girls with Central Precocious Puberty. ( 27914139 )
2017
6
Prepubertal exposure to an oestrogenic mycotoxin zearalenone induces central precocious puberty in immature female rats through the mechanism of premature activation of hypothalamic kisspeptin-GPR54 signaling. ( 27519634 )
2016
7
Central or Peripheral Precocious Puberty: Diagnostic Difficulties. ( 27771678 )
2016
8
Central precocious puberty due to hypothalamic hamartoma in neurofibromatosis type 1. ( 26732170 )
2016
9
A 6-Month Trial of the Efficacy and Safety of Triptorelin Pamoate (11.25 mg) Every 3 Months in Children with Precocious Puberty: A Retrospective Comparison with Triptorelin Acetate. ( 27603324 )
2016
10
Causes, diagnosis, and treatment of central precocious puberty. ( 26852255 )
2016
11
A Study on Dietary Habits and Lifestyle of Girls with Precocious Puberty. ( 27437190 )
2016
12
Clinical Exome Sequencing Reveals MKRN3 Pathogenic Variants in Familial and Nonfamilial Idiopathic Central Precocious Puberty. ( 27931036 )
2016
13
A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty. ( 27649574 )
2016
14
Effects and safety of combination therapy with gonadotropin-releasing hormone analogue and growth hormone in girls with idiopathic central precocious puberty: a meta-analysis. ( 27225286 )
2016
15
Use of Gonadotropin-Releasing Hormone for Intractable Seizures in a Girl with Precocious Puberty without Hypothalamic Hamartoma. ( 27156180 )
2016
16
Central precocious puberty in children with devastating brain damage: Two cases. ( 27625256 )
2016
17
Underdiagnosis of central precocious puberty in boys with loss-of function mutations of MKRN3. ( 28043686 )
2016
18
Change in body mass index among girls with precocious puberty under treatment. ( 27079392 )
2016
19
Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case. ( 27424312 )
2016
20
Basal Serum Neurokinin B Level can be used to Differentiate Idiopathic Central Precocious Puberty from Premature Thelarche in Girls. ( 28008860 )
2016
21
Central Precocious Puberty: A Case Report. ( 27941749 )
2016
22
The Efficacy of GnRHa Alone or in Combination with rhGH for the Treatment of Chinese Children with Central Precocious Puberty. ( 27072597 )
2016
23
Highly Sensitive Detection of Hormone Estradiol E2 Using Surface-Enhanced Raman Scattering Based Immunoassays for the Clinical Diagnosis of Precocious Puberty. ( 27070977 )
2016
24
The Etiology and Clinical Features of Non-CAH Gonadotropin-Independent Precocious Puberty: A Multicenter Study. ( 26964727 )
2016
25
An update on the genetic causes of central precocious puberty. ( 27462581 )
2016
26
Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty. ( 26431553 )
2016
27
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty. ( 27648561 )
2016
28
Boy with central precocious puberty probably due to a peripheral cause. ( 27256994 )
2016
29
The Influence of GnRH Analog Therapy on Growth in Central Precocious Puberty. ( 26935495 )
2016
30
Do 6-8 year old girls with central precocious puberty need routine brain imaging? ( 27148371 )
2016
31
Body mass index in girls with idiopathic central precocious puberty during and after treatment with GnRH analogues. ( 27499763 )
2016
32
DEHP exposure in utero disturbs sex determination and is potentially linked with precocious puberty in female mice. ( 27495896 )
2016
33
Efficacy and safety of triptorelin 6-month formulation in patients with central precocious puberty. ( 26887034 )
2016
34
Treatment of Peripheral Precocious Puberty. ( 26680582 )
2016
35
Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome. ( 27562402 )
2016
36
Body image and depression in girls with idiopathic precocious puberty treated with gonadotropin-releasing hormone analogue. ( 27777908 )
2016
37
Increasing incidence of premature thelarche in the Central Region of Denmark - Challenges in differentiating girls less than 7A years of age with premature thelarche from girls with precocious puberty in real-life practice. ( 26909102 )
2016
38
A boy with Prader-Willi syndrome: unmasking precocious puberty during growth hormone replacement therapy. ( 27982202 )
2016
39
Association of genetic polymorphisms around the LIN28B gene and idiopathic central precocious puberty risks among Chinese girls. ( 27304100 )
2016
40
Changes in body mass index during gonadotropin-releasing hormone agonist treatment for central precocious puberty and early puberty. ( 27444748 )
2016
41
The evaluation of possible role of endocrine disruptors in central and peripheral precocious puberty. ( 27451808 )
2016
42
Central precocious puberty in a boy with 22q13 deletion syndrome and NOTCH-1 gene duplication. ( 27235670 )
2016
43
Influence of obesity on luteinizing hormone secretion during gonadotropin-releasing hormone stimulation tests in girls with central precocious puberty. ( 27215137 )
2016
44
The Diagnostic Value of Pelvic Ultrasound in Girls with Central Precocious Puberty. ( 26866003 )
2016
45
Increased levels of bisphenol A (BPA) in Thai girls with precocious puberty. ( 26812862 )
2016
46
Sexual Precocity--Genetic Bases of Central Precocious Puberty and Autonomous Gonadal Activation. ( 26680572 )
2016
47
Assessment of Estradiol Response after Depot Triptorelin Administration in Girls with Central Precocious Puberty. ( 26675317 )
2016
48
Etiology and therapeutic outcomes of children with gonadotropin-independent precocious puberty. ( 27777905 )
2016
49
Central precocious puberty: revisiting the diagnosis and therapeutic management. ( 27191050 )
2016
50
Could tea polyphenols be beneficial for preventing the precocious puberty? ( 27692159 )
2016

Variations for Precocious Puberty

Expression for Precocious Puberty

Search GEO for disease gene expression data for Precocious Puberty.

Pathways for Precocious Puberty

GO Terms for Precocious Puberty

Biological processes related to Precocious Puberty according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of osteoblast differentiation GO:0045669 9.43 GNAS IGF1
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.4 GH1 IGF1
3 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.37 GNAS LHCGR
4 cognition GO:0050890 9.32 GNAS LHCGR
5 activation of adenylate cyclase activity GO:0007190 9.26 GNAS LHCGR
6 positive regulation of tyrosine phosphorylation of Stat5 protein GO:0042523 9.16 GH1 IGF1
7 positive regulation of insulin-like growth factor receptor signaling pathway GO:0043568 8.96 GH1 IGF1
8 positive regulation of cAMP-mediated signaling GO:0043950 8.62 GNAS LHCGR

Molecular functions related to Precocious Puberty according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 G-protein coupled peptide receptor activity GO:0008528 9.16 KISS1R LHCGR
2 insulin-like growth factor receptor binding GO:0005159 8.96 GNAS IGF1
3 hormone activity GO:0005179 8.8 GH1 GNRH1 IGF1

Sources for Precocious Puberty

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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