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MCID: HYP069
MIFTS: 62

Hyperparathyroidism

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hyperparathyroidism

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MalaCards integrated aliases for Hyperparathyroidism:

Name: Hyperparathyroidism 12 73 29 54 6 44 15 39 17 70

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Endocrine diseases Bone diseases Nephrological diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:13543
ICD9CM 34 252.0
MeSH 44 D006961
NCIt 50 C48259
SNOMED-CT 67 190451000
ICD10 32 E21.3
UMLS 70 C0020502
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Summaries for Hyperparathyroidism

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Disease Ontology : 12 A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body.

MalaCards based summary : Hyperparathyroidism is related to hyperparathyroidism 1 and hyperparathyroidism 2 with jaw tumors. An important gene associated with Hyperparathyroidism is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Transcription_Role of VDR in regulation of genes involved in osteoporosis. The drugs tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and thyroid, and related phenotypes are cellular and endocrine/exocrine gland

Wikipedia : 73 Hyperparathyroidism is an increase in parathyroid hormone (PTH) levels in the blood. This occurs from a... more...

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Related Diseases for Hyperparathyroidism

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Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 1 Hyperparathyroidism 3
Hyperparathyroidism 4 Primary Hyperparathyroidism
Secondary Hyperparathyroidism Rare Hyperparathyroidism

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

(show top 50) (show all 904)
# Related Disease Score Top Affiliating Genes
1 hyperparathyroidism 1 33.4 MEN1 GCM2 CDC73
2 hyperparathyroidism 2 with jaw tumors 33.3 RET MEN1 CDC73 CASR
3 hyperparathyroidism, neonatal severe 33.0 TRPV6 PRKAR1A CASR
4 parathyroid carcinoma 32.3 RET PTH MEN1 CDC73 CASR CALCA
5 osteitis fibrosa 32.1 PTH FGF23 CDC73 CASR CALCA BGLAP
6 adenoma 31.9 RET PTH PRKAR1A MEN1 CDC73 CASR
7 multiple endocrine neoplasia, type iia 31.8 RET PTH MEN1 CDKN1B CDC73 CASR
8 pseudohypoparathyroidism, type ib 31.7 PTHLH PTH BGLAP
9 multiple endocrine neoplasia 31.6 RET PTH PRKAR1A MEN1 GAST CDKN1B
10 multiple endocrine neoplasia, type iv 31.6 RET PRKAR1A MEN1 CDKN1B CDC73
11 nephrolithiasis 31.5 VDR PTH MEN1 FGF23 CASR BGLAP
12 goiter 31.5 RET CALCA BGLAP
13 multiple endocrine neoplasia, type i 31.4 RET PTH PRKAR1A MEN1 GAST CDKN1B
14 vitamin d-dependent rickets 31.4 VDR PTH PHEX CYP27B1 BGLAP
15 rickets 31.4 VDR PTH PHEX FGF23 CYP27B1 CASR
16 primary hyperparathyroidism 31.3 VDR RET PTHLH PTH PRKAR1A MEN1
17 vitamin d-dependent rickets, type 2a 31.3 VDR PHEX CYP27B1
18 end stage renal disease 31.3 VDR PTH FGF23 EPO CASR
19 secondary hyperparathyroidism 31.2 VDR PTH PHEX MEN1 FGF23 EPO
20 parathyroid adenoma 31.2 VDR RET PTHLH PTH PRKAR1A MEN1
21 hypocalciuric hypercalcemia, familial, type i 31.2 PTH CDC73 CASR
22 uremia 31.2 VDR PTH MEN1 EPO CASR
23 kidney disease 31.1 VDR RET PTH FGF23 EPO CYP27B1
24 hyperthyroidism 31.1 PTH CALCA BGLAP ACP5
25 thyroid gland disease 31.0 RET PTH CALCA
26 calciphylaxis 30.9 VDR PTH FGF23 EPO CASR
27 hypercalcemia, infantile, 1 30.9 VDR PTHLH PTH CASR CALCA
28 chief cell adenoma 30.9 PTH GCM2
29 hyperphosphatemia 30.9 VDR PTH PHEX GCM2 FGF23 CASR
30 renal osteodystrophy 30.8 VDR PTH FGF23 CASR CALCA BGLAP
31 mammary paget's disease 30.8 PTH CALCA BGLAP ACP5
32 bone resorption disease 30.8 VDR PTHLH PTH FGF23 CALCA BGLAP
33 calcinosis 30.8 PHEX FGF23 CALCA
34 constipation 30.8 RET PTH GAST CALCA
35 idiopathic hypercalciuria 30.7 VDR PRKAR1A CASR BGLAP
36 fibrous dysplasia 30.7 FGF23 CDC73 CALCA BGLAP
37 thyroid gland medullary carcinoma 30.7 RET PTH MEN1 GAST CALCA
38 differentiated thyroid carcinoma 30.6 VDR RET BGLAP
39 chronic kidney disease 30.6 VDR PTH FGF23 EPO CYP27B1 CASR
40 clear cell adenoma 30.6 PTH MEN1 CDC73
41 hypoparathyroidism 30.6 VDR RET PTHLH PTH PRKAR1A GCM2
42 familial hypocalciuric hypercalcemia 30.5 VDR RET PTHLH PTH MEN1 GCM2
43 thyroid carcinoma, familial medullary 30.5 RET PRKAR1A MEN1 GAST CALCA
44 hypophosphatemic rickets, x-linked recessive 30.5 VDR PHEX FGF23 CYP27B1
45 endemic goiter 30.5 PTH CALCA
46 benign giant cell tumor 30.4 FGF23 CALCA BGLAP
47 hypophosphatemia 30.4 VDR PTHLH PTH PHEX FGF23 CYP27B1
48 gastrinoma 30.4 MEN1 GAST CASR
49 pseudohypoparathyroidism 30.4 PTHLH PTH PRKAR1A CALCA BGLAP
50 paraganglioma 30.3 RET MEN1 CALCA

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


Acute Cystitis Chronic Kidney Disease
Deficiency Anemia Hypertension, Essential
Hypoparathyroidism Hypothyroidism
Nephrolithiasis, X-Linked Recessive, with Renal Failure Osteoporosis
Parathyroid Carcinoma

Graphical network of the top 20 diseases related to Hyperparathyroidism:



Diseases related to Hyperparathyroidism
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Symptoms & Phenotypes for Hyperparathyroidism

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MGI Mouse Phenotypes related to Hyperparathyroidism:

46 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.43 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO
2 endocrine/exocrine gland MP:0005379 10.4 BGLAP CASR CDC73 CDKN1B CYP27B1 FGF23
3 homeostasis/metabolism MP:0005376 10.38 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO
4 immune system MP:0005387 10.33 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO
5 growth/size/body region MP:0005378 10.32 CASR CDC73 CDKN1B CYP27B1 FGF23 MEN1
6 cardiovascular system MP:0005385 10.31 CDC73 CDKN1B EPO FGF23 MEN1 PHEX
7 hematopoietic system MP:0005397 10.31 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO
8 craniofacial MP:0005382 10.29 CASR CDC73 CDKN1B CYP27B1 GCM2 MEN1
9 digestive/alimentary MP:0005381 10.28 CASR CDC73 CDKN1B FGF23 GAST MEN1
10 mortality/aging MP:0010768 10.21 CASR CDC73 CDKN1B EPO FGF23 GAST
11 adipose tissue MP:0005375 10.12 BGLAP CDC73 CDKN1B CYP27B1 PHEX PRKAR1A
12 integument MP:0010771 10.09 CASR CDC73 CDKN1B CYP27B1 EPO FGF23
13 limbs/digits/tail MP:0005371 10.01 CYP27B1 EPO FGF23 PHEX PTH PTHLH
14 muscle MP:0005369 9.92 CASR CDC73 CDKN1B EPO MEN1 PRKAR1A
15 renal/urinary system MP:0005367 9.85 CASR CDC73 CDKN1B CYP27B1 FGF23 GCM2
16 neoplasm MP:0002006 9.8 CDC73 CDKN1B GAST MEN1 PRKAR1A PTHLH
17 reproductive system MP:0005389 9.7 BGLAP CDC73 CDKN1B CYP27B1 FGF23 MEN1
18 skeleton MP:0005390 9.44 BGLAP CASR CDC73 CDKN1B CYP27B1 EPO
Sources

Drugs & Therapeutics for Hyperparathyroidism

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

(show top 50) (show all 132)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 4 1401-55-4
2
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
3
Sevelamer Approved Phase 4 52757-95-6
4 Strontium ranelate Approved, Withdrawn Phase 4 135459-87-9
5
Calcium acetate Approved, Investigational Phase 4 62-54-4
6
Darbepoetin alfa Approved, Investigational Phase 4 209810-58-2, 11096-26-7
7
Atorvastatin Approved Phase 4 134523-00-5 60823
8
Salmon calcitonin Approved, Investigational Phase 4 47931-85-1 16129616
9
Denosumab Approved Phase 4 615258-40-7
10
Zoledronic Acid Approved Phase 4 118072-93-8 68740
11
Cinacalcet Approved Phase 4 226256-56-0 156419
12
Calcifediol Approved, Nutraceutical Phase 4 19356-17-3 6433735 5283731
13
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
14
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
15
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
16
Calcitriol Approved, Nutraceutical Phase 4 32222-06-3 134070 5280453
17
Calcitonin gene-related peptide Investigational Phase 4 83652-28-2
18 Hydroxycholecalciferols Phase 4
19 Chelating Agents Phase 4
20 Ergocalciferols Phase 4
21 Vitamin D2 Phase 4
22 Anticholesteremic Agents Phase 4
23 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
24 Liver Extracts Phase 4
25 Hematinics Phase 4
26 Epoetin alfa Phase 4 113427-24-0
27 Mitogens Phase 4
28 Vasodilator Agents Phase 4
29 Katacalcin Phase 4
30 calcitonin Phase 4
31 Micronutrients Phase 4
32 Trace Elements Phase 4
33 Nutrients Phase 4
34 Vasoconstrictor Agents Phase 4
35 Dihydroxycholecalciferols Phase 4
36 1 alpha-hydroxyergocalciferol Phase 4
37
Calcium carbonate Approved, Investigational Phase 3 471-34-1
38
Eplerenone Approved Phase 2, Phase 3 107724-20-9 150310 443872
39
Amiloride Approved Phase 2, Phase 3 2016-88-8, 2609-46-3 16231
40
Teriparatide Approved, Investigational Phase 3 52232-67-4 16133850
41
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
42
Choline Approved, Nutraceutical Phase 3 62-49-7 305
43
Maxacalcitol Investigational Phase 3 103909-75-7
44 Vitamins Phase 3
45 Calciferol Phase 3
46 Hormone Antagonists Phase 3
47 Protective Agents Phase 3
48 Gastrointestinal Agents Phase 3
49 Sodium Channel Blockers Phase 2, Phase 3
50 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 291)
# Name Status NCT ID Phase Drugs
1 An Open-label Study of Combination of Cinacalcet and Active Vitamin D Analogue in the Management of Severe Secondary Hyperparathyroidism in Haemodialysis Patients Unknown status NCT02338934 Phase 4 Combination Cinacalcet with Vitamin D analogue
2 Providing Intravenous Paricalcitol Treatment to the Sick and Poor Chronic Hemodialysis Patients With Severe Secondary Hyperparathyroidism Resistant to Existing Vitamin D Analogs Unknown status NCT03023748 Phase 4 Intravenous Paricalcitol
3 Effect of Cinacalcet Treatment on Vascular Arterial Stiffness Among Peritoneal Dialysis Patients With Secondary Hyperparathyroidism Completed NCT01143987 Phase 4 Cinacalcet
4 Randomized Clinical Trial for The Evaluation of The Effects Of Cholecalciferol Supplementation On The Parathyroid Hormone In Hemodialysis Patients Completed NCT03648528 Phase 4 cholecalciferol;placebo
5 A Randomized Trial Comparing an Integrated Care Approach Using Electronic Cinacalcet Adherence Data Versus Usual Care to Improve Secondary Hyperparathyroidism in Hemodialysis Patients Completed NCT01573520 Phase 4
6 Direct Effect of Paricalcitol on Anemia in Chronic Kidney Disease Completed NCT01768351 Phase 4 Paricalcitol;Calcitriol
7 Evaluation of a Parathyroid Hormone Suppression Test With Cinacalcet. Comparison: 1- With the Results of the Intravenous Calcium Suppression Test in Healthy Controls; 2- Between Healthy Controls and Patients With Primary Hyperparathyroidism. Completed NCT01103206 Phase 4 cinacalcet;cinacalcet dose 1;cinacalcet dose 2
8 Effect of Doxercalciferol on Endothelial Cell Function in End Stage Renal Disease Completed NCT00528788 Phase 4 doxercalciferol
9 Phase 4 Study of Cinacalcet Efficacy in Combination With Vitamin D for the Treatment of Secondary Hyperparathyroidism in Peritoneal Dialysis Patients Completed NCT01101113 Phase 4 cinacalcet;control
10 Primary Hyperparathyroidism: Does a Systematic Treatment Improve the Calcium- and Bone Metabolism After Successful Surgery? - Part I Completed NCT01222026 Phase 4 Strontium Ranelate + Ca/Vitamin-D;Placebo
11 A Prospective, Randomized Trial to Compare Subtotal Parathyroidectomy Versus Cinacalcet in the Treatment of Persistent Secondary Hyperparathyroidism Post Renal Transplantation Completed NCT01178450 Phase 4 Cinacalcet
12 Randomized Trial to Evaluate the Efficacy and Safety of Cinacalcet Treatment in Combination With Low Dose Vitamin D for the Treatment of Subjects With Secondary Hyperparathyroidism (SHPT) Recently Initiating Hemodialysis Completed NCT00803712 Phase 4 Cinacalcet;Vitamin D
13 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4 25 OH vitamin D
14 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
15 A Multicenter, Randomized, Open Label Study to Compare the Efficacy of Cinacalcet Versus Traditional Vitamin D Therapy for Management of Secondary Hyperparathyroidism Among Subjects Undergoing Hemodialysis Completed NCT01181531 Phase 4 Traditional Vitamin D Therapy;Cinacalcet
16 Prospective, Non-randomized, Multicenter Study to Assess the Efficacy and Safety of Oral or Intravenous Paricalcitol Administered Over 6 Months to Patients With Secondary Hyperparathyroidism on Dialysis Completed NCT00537979 Phase 4 Paricalcitol injection;Paricalcitol capsules
17 Effectiveness and Safety of a 6-Month Treatment With IV Zemplar in Patients on Hemodialysis and With Secondary Hyperparathyroidism Using iPTH/100 as Initial Dose Completed NCT00891813 Phase 4 Zemplar (paricalcitol)
18 A Phase 4 Randomized Multicenter Open Label Trial of Paricalcitol Versus Calcitriol for Efficacy and Safety in Stage 3 or 4 Ckd Patients With Secondary Hyperparathyroidism Completed NCT00823303 Phase 4 Paricalcitol;Calcitriol
19 Response of Secondary Hyperparathyroidism to Paricalcitol Versus Ergocalciferol in Patients With Stage 3 and 4 Chronic Kidney Disease With Vitamin D Deficiency: a Randomized Controlled Trial Completed NCT00958451 Phase 4 Paricalcitol;Ergocalciferol
20 Trial to Optimize Mineral Outcomes in End Stage Renal Disease (ESRD) Patients Completed NCT01100723 Phase 4
21 Randomized Controlled Trial of Vitamin D Repletion Regimens in Primary Hyperparathyroidism Completed NCT01306656 Phase 4 10,000 IU Vitamin D3
22 Denosumab in Primary Hyperparathyroidism Completed NCT01558115 Phase 4 Denosumab
23 An Open-Label, Repeated-Dose Safety, Efficacy, Pharmacokinetic and Pharmacodynamic Study of Oral CTAP101 Capsules, Immediate- Release (IR) Calcifediol, High-Dose Cholecalciferol, and Paricalcitol Plus Low-Dose Cholecalciferol in Patients With Secondary Hyperparathyroidism, Stage 3 or 4 Chronic Kidney Disease and Vitamin D Insufficiency Completed NCT03588884 Phase 4 Calcifediol Oral Capsule;Calcifediol Oral Product;Cholecalciferol;Paricalcitol Oral Capsule
24 A Randomized Trial Comparing Pulse Calcitriol and Alfacalcidol for the Treatment of Secondary Hyperparathyroidism in Hemodialysis Patients Completed NCT01115543 Phase 4 alfacalcidol and calcitriol
25 The IMPACT SHPT Study: Study to Evaluate the Improved Management of iPTH With Paricalcitol-centered Therapy vs. Cinacalcet Therapy With Low-dose Vitamin D in Hemodialysis Patients With Secondary Hyperparathyroidism Completed NCT00977080 Phase 4 Paricalcitol;Cinacalcet
26 The Study of Efficacy and Safety of Calcium Sensing Receptor in Chronic Dialysis Patients Completed NCT02056730 Phase 4 calcium sensing receptor agonist
27 An Assessment of the Calcimimetic Agent AMG 073 for the Treatment of Subjects With Parathyroid Carcinoma or Intractable Primary Hyperparathyroidism. Completed NCT00037518 Phase 4 AMG 073
28 A Study To Assess Achievement of NKF K/DOQI Targets Using Sensipar (Cinacalcet) in Australian Subjects With End Stage Renal Disease (ESRD) Who Are Being Treated With Aranesp for Anaemia Management Completed NCT00431496 Phase 4 Cinacalcet
29 A Randomized Study to Evaluate the Effects of Cinacalcet Plus Low Dose Vitamin D on Vascular Calcification in Subjects With Chronic Kidney Disease (CKD) Receiving Hemodialysis Completed NCT00379899 Phase 4 cinacalcet
30 Sensipar Treatment Algorithm to Reach K/DOQI Targets in Chronic Kidney Disease Subjects With Secondary Hyperparathyroidism Completed NCT00132431 Phase 4 Sensipar
31 A Phase 4, Multi-center, Randomized, Double-blind, Placebo-controlled, Parallel Study to Assess the Efficacy and Safety of Doxercalciferol Capsules in Vitamin D-replete Subjects With Chronic Kidney Disease (CKD) Stages 3 or 4 With Secondary Hyperparathyroidism (SHPT). Completed NCT00123461 Phase 4 Hectorol (doxercalciferol capsules), 0.5mcg
32 Efficacy and Safety of Paricalcitol in the Reduction of Secondary Hyperparathyroidism After Renal Transplantation. Completed NCT01939977 Phase 4 Paricalcitol;Calcifediol
33 A Phase 4, Multi Center, Open-Label, Randomized Study to Determine Clinically Appropriate Doses of Hectorol® (Doxercalciferol Capsules) When Converting From Zemplar® (Paricalcitol Injection) for the Treatment of Secondary Hyperparathyroidism in Stage 5 Chronic Kidney Disease (CKD) Subjects on Hemodialysis. Completed NCT00463021 Phase 4 Hectorol (doxercalciferol capsules);Zemplar (paricalcitol injection)
34 A Randomized , Open-Label, Cross-over, Pharmacokinetic Study of Doxercalciferol and Paricalcitol Following Multiple Intravenous Injections in Chronic Kidney Disease Subjects on Hemodialysis Completed NCT00454350 Phase 4 Hectorol (doxercalciferol injection);Zemplar (Paricalcitol injection)
35 A Phase 4, Single-Center, Open-Label, Randomized, Active-Controlled, Cross-over Pilot Study to Evaluate the Effects of Two Vitamin D Analogs, Zemplar® Injection and Hectorol® Injection, on Intestinal Absorption of Calcium in CKD Stage 5 Subjects on Hemodialysis Completed NCT00257920 Phase 4 Zemplar® injection;Hectorol® injection
36 CARE-2 (Calcium Acetate (PhosLo®)/Sevelamer(Renagel®) Evaluation Study 2) Completed NCT00211939 Phase 4 calcium acetate;sevelamer;atorvastatin
37 Safety and Effectiveness of Zemplar Injection in Decreasing iPTH Levels in Pediatric ESRD Subjects on Hemodialysis Completed NCT00053547 Phase 4 paricalcitol injection
38 A Phase 4, Multi-Center, Open-Label, Randomized Study to Determine Clinically Appropriate Doses of Hectorol® Capsules When Converting From Hectorol® Injection for the Treatment of SHPT in Stage 5 CKD Subjects on Hemodialysis Completed NCT00418600 Phase 4 Hectorol® (doxercalciferol capsules);doxercalciferol capsules, Hectorol®;doxercalciferol capsules, Hectorol® capsules
39 Initial Dosing of Paricalcitol Based on iPTH Parathyroid Hormone Levels in Hemodialysis Patients With Secondary Hyperparathyroidism Completed NCT00307840 Phase 4 paricalcitol
40 Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity Completed NCT00288873 Phase 4 Ergocalciferol;Cholecalciferol
41 ACHIEVE: Optimizing the Treatment of Secondary Hyperparathyroidism: A Comparison of Sensipar® and Low Dose Vitamin D vs. Escalating Doses of Vitamin D Alone Completed NCT00135304 Phase 4 Sensipar®;Vitamin D
42 A Phase IV, Single-Center, Active-Controlled Cross-Over Pilot Study to Evaluate the Effects of Zemplar Injection and Calcijex on Intestinal Absorption of Calcium Completed NCT00073710 Phase 4 Zemplar;Calcijex
43 Effect of Etelcalcetide on Cardiac Hypertrophy in Hemodialysis Patients: A Randomized Controlled Trial Completed NCT03182699 Phase 4
44 A Multi-center Study Evaluating Efficacy and Safety of Cinacalcet Hydrochloride(HCL) in Calcium, Phosphorus and Intact Parathyroid Hormone(iPTH) Serum Levels in Chinese Chronic Kidney Disease(CKD) Hemodialysis(HD) Patients With Mild, Moderate and Severe Secondary Hyperparathyroidism(SHPT) Completed NCT03123406 Phase 4 Cinacalcet HCl
45 A Prospective, Non-randomised, Single-arm, Open-Label Pilot Clinical Study Evaluating the Effect of PTH Lowering on Erythropoietin Consumption in Calcitriol-Resistant Patients Completed NCT01506947 Phase 4 Paricalcitol;Darbepoetin alfa
46 12-months of Treatment With Burosumab in Children and Adolescents With X-linked Hypophosphatemia: a Prospective Longitudinal Cohort Study Recruiting NCT04419363 Phase 4 Burosumab Injection
47 Improving the Sensitivity of Sestamibi SPECT-CT Parathyroid Scan With Calcitonin Pre-treatment for Primary Hyperparathyroidism Recruiting NCT03935984 Phase 4 Calcitonin
48 Management of Osteoporosis in Patients With Primary Hyperparathyroidism Enrolling by invitation NCT04085419 Phase 4 Denosumab 60 MG/ML Prefilled Syringe [Prolia];Zoledronic Acid
49 Evaluation of Cholecalciferol Supplementation in Chronic Kidney Disease Patients With Restless Leg Syndrome Suspended NCT03063190 Phase 4 Vitamin D;Placebo Oral Tablet
50 A Randomized, Prospective, Cross-Over Study of Calcitriol vs. Paricalcitol in the Treatment of Mineral and Bone Disease in Hemodialysis Patients Terminated NCT01725113 Phase 4 Calcitriol;Paricalcitol

Search NIH Clinical Center for Hyperparathyroidism

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Calcitriol
Cod Liver Oil
Dihydrotachysterol
Doxercalciferol
paricalcitol

Cochrane evidence based reviews: hyperparathyroidism

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Genetic Tests for Hyperparathyroidism

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Genetic tests related to Hyperparathyroidism:

# Genetic test Affiliating Genes
1 Hyperparathyroidism 29
Sources

Anatomical Context for Hyperparathyroidism

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MalaCards organs/tissues related to Hyperparathyroidism:

40
Kidney, Bone, Thyroid, Pituitary, Skin, Heart, Endothelial
Sources

Publications for Hyperparathyroidism

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Articles related to Hyperparathyroidism:

(show top 50) (show all 24065)
# Title Authors PMID Year
1
The fibroblast growth factor 23: a new player in the field of cardiovascular, bone and renal disease. 54 61
20180772 2010
2
Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. 54 61
20164288 2010
3
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1). 61 54
19953642 2010
4
A physiologically based mathematical model of integrated calcium homeostasis and bone remodeling. 54 61
19732857 2010
5
A novel loss-of-function mutation, Gln459Arg, of the calcium-sensing receptor gene associated with apparent autosomal recessive inheritance of familial hypocalciuric hypercalcemia. 54 61
19789209 2009
6
Neurofibromatosis type 1: should we screen for other genetic syndromes? A case report of co-existence with multiple endocrine neoplasia 2A. 54 61
19558618 2009
7
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants. 61 54
19389809 2009
8
Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition. 61 54
19474519 2009
9
An association between invasive breast cancer and familial idiopathic hyperparathyroidism: a case series and review of the literature. 61 54
18500673 2009
10
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 61 54
19179454 2009
11
[Primary hyperparathyroidism]. 61 54
19421129 2009
12
Analyses of age, gender and other risk factors of erythropoietin resistance in pediatric and adult dialysis cohorts. 61 54
18800231 2009
13
Loss of expression for the Wnt pathway components adenomatous polyposis coli and glycogen synthase kinase 3-beta in parathyroid carcinomas. 54 61
19148484 2009
14
Analysis of CYP27B1, encoding 25-hydroxyvitamin D-1alpha-hydroxylase, as a candidate tumor suppressor gene in primary and severe secondary/tertiary hyperparathyroidism. 61 54
18767934 2009
15
Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors. 61 54
18796518 2008
16
Effect of parathyroidectomy on anemia and erythropoietin dosing in end-stage renal disease patients with hyperparathyroidism. 61 54
19040997 2008
17
A case of X-linked hypophosphatemic rickets: complications and the therapeutic use of cinacalcet. 61 54
18775977 2008
18
The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the c-myc proto-oncogene. 61 54
18987311 2008
19
HRPT2-related familial isolated hyperparathyroidism: could molecular studies direct the surgical approach? 61 54
19169472 2008
20
Mutational analysis of CDKN1B, a candidate tumor-suppressor gene, in refractory secondary/tertiary hyperparathyroidism. 54 61
18288099 2008
21
Does vitamin D receptor and calcium receptor activation therapy play a role in the histopathologic alterations of parathyroid glands in refractory uremic hyperparathyroidism? 61 54
18322048 2008
22
Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. 61 54
18436011 2008
23
Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. 54 61
18328986 2008
24
Recent updates on the calcium-sensing receptor as a drug target. 54 61
18220773 2008
25
Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. 61 54
18063086 2007
26
A carrier of both MEN1 and BRCA2 mutations: case report and review of the literature. 54 61
18036394 2007
27
Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant. 54 61
17974727 2007
28
Mutations in genes causing human familial isolated hyperparathyroidism do not account for hyperparathyroidism in Keeshond dogs. 61 54
17158076 2007
29
Human RNA polymerase II-associated factor complex: dysregulation in cancer. 61 54
17599057 2007
30
New insights into nephrogenic systemic fibrosis. 61 54
17855637 2007
31
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene. 54 61
17555508 2007
32
Diseases and clinical applications of the calcium sensing receptor. 54 61
17925789 2007
33
Persistent high level of fibroblast growth factor 23 as a cause of post-renal transplant hypophosphatemia. 61 54
17891358 2007
34
The association of neurofibromatosis, bilateral pheochromocytoma and primary hyperparathyroidism. 61 54
17647146 2007
35
Parafibromin immunoreactivity: its use as an additional diagnostic marker for parathyroid tumor classification. 61 54
17639063 2007
36
Sexual function in chronic kidney disease. 54 61
17395114 2007
37
Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. 54 61
17314275 2007
38
Does parathyroid hormone affect erythropoietin therapy in dialysis patients? 61 54
17159367 2007
39
Inherited endocrine diseases involving G proteins and G protein-coupled receptors. 54 61
17986833 2007
40
FGF23: its role in renal bone disease. 54 61
16932898 2006
41
Parafibromin inhibits cancer cell growth and causes G1 phase arrest. 61 54
16989776 2006
42
Surveillance for early detection of aggressive parathyroid disease: carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. 54 61
16995822 2006
43
Regulation of parathyroid function in chronic kidney disease (CKD). 54 61
17009074 2006
44
Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. 61 54
16720667 2006
45
The calcium-sensing receptor and related diseases. 61 54
17117288 2006
46
Basic and clinical aspects of parathyroid hyperplasia in chronic kidney disease. 61 54
16810308 2006
47
Persistent hyperparathyroidism in renal allograft recipients: vitamin D receptor, calcium-sensing receptor, and apoptosis. 54 61
16738533 2006
48
The calcium-sensing receptor and vitamin D receptor expression in tertiary hyperparathyroidism. 61 54
16596260 2006
49
Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. 54 61
16487440 2006
50
Hypercalcemia of malignancy due to ectopic transactivation of the parathyroid hormone gene. 61 54
16263810 2006
Sources

Variations for Hyperparathyroidism

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ClinVar genetic disease variations for Hyperparathyroidism:

6 (show top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV6 NM_018646.6(TRPV6):c.1978G>C (p.Gly660Arg) SNV Likely pathogenic 818220 rs780306040 GRCh37: 7:142570162-142570162
GRCh38: 7:142872409-142872409
2 MEN1 NM_001370259.2(MEN1):c.*693T>C SNV Uncertain significance 877477 GRCh37: 11:64571113-64571113
GRCh38: 11:64803641-64803641
3 MEN1 NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) SNV Uncertain significance 200987 rs745404679 GRCh37: 11:64572021-64572021
GRCh38: 11:64804549-64804549
4 MEN1 NM_000244.3(MEN1):c.956G>A (p.Arg319Gln) SNV Uncertain significance 485711 rs771645621 GRCh37: 11:64573812-64573812
GRCh38: 11:64806340-64806340
5 MEN1 NM_001370259.2(MEN1):c.849G>T (p.Leu283=) SNV Uncertain significance 877570 GRCh37: 11:64574546-64574546
GRCh38: 11:64807074-64807074
6 MEN1 NM_000244.3(MEN1):c.777G>A (p.Leu259=) SNV Uncertain significance 215966 rs199909967 GRCh37: 11:64575045-64575045
GRCh38: 11:64807573-64807573
7 MEN1 NM_001370259.2(MEN1):c.*400G>A SNV Uncertain significance 878507 GRCh37: 11:64571406-64571406
GRCh38: 11:64803934-64803934
8 MEN1 NM_001370259.2(MEN1):c.*341C>G SNV Uncertain significance 878508 GRCh37: 11:64571465-64571465
GRCh38: 11:64803993-64803993
9 MEN1 NM_000244.3(MEN1):c.-106T>C SNV Uncertain significance 305320 rs886048481 GRCh37: 11:64578184-64578184
GRCh38: 11:64810712-64810712
10 MEN1 NM_000244.3(MEN1):c.*570C>A SNV Uncertain significance 305296 rs886048469 GRCh37: 11:64571236-64571236
GRCh38: 11:64803764-64803764
11 MEN1 NM_000244.3(MEN1):c.*373G>C SNV Uncertain significance 305305 rs886048476 GRCh37: 11:64571433-64571433
GRCh38: 11:64803961-64803961
12 MEN1 NM_000244.3(MEN1):c.*527G>T SNV Uncertain significance 305301 rs886048473 GRCh37: 11:64571279-64571279
GRCh38: 11:64803807-64803807
13 MEN1 NM_000244.3(MEN1):c.327A>C (p.Glu109Asp) SNV Uncertain significance 305314 rs773976527 GRCh37: 11:64577255-64577255
GRCh38: 11:64809783-64809783
14 MEN1 NM_000244.3(MEN1):c.*272T>C SNV Uncertain significance 305309 rs563783609 GRCh37: 11:64571534-64571534
GRCh38: 11:64804062-64804062
15 MEN1 NM_000244.3(MEN1):c.1311G>A (p.Leu437=) SNV Uncertain significance 36524 rs138770431 GRCh37: 11:64572560-64572560
GRCh38: 11:64805088-64805088
16 MEN1 NM_000244.3(MEN1):c.*529A>G SNV Uncertain significance 305300 rs886048472 GRCh37: 11:64571277-64571277
GRCh38: 11:64803805-64803805
17 MEN1 NM_000244.3(MEN1):c.*560G>T SNV Uncertain significance 305297 rs886048470 GRCh37: 11:64571246-64571246
GRCh38: 11:64803774-64803774
18 MEN1 NM_000244.3(MEN1):c.*533C>T SNV Uncertain significance 305299 rs879327862 GRCh37: 11:64571273-64571273
GRCh38: 11:64803801-64803801
19 MEN1 NM_001370259.2(MEN1):c.*470A>G SNV Uncertain significance 305302 rs778272737 GRCh37: 11:64571336-64571336
GRCh38: 11:64803864-64803864
20 MEN1 NM_000244.3(MEN1):c.*438C>T SNV Uncertain significance 305303 rs886048474 GRCh37: 11:64571368-64571368
GRCh38: 11:64803896-64803896
21 MEN1 NM_000244.3(MEN1):c.*89G>A SNV Uncertain significance 305312 rs886048478 GRCh37: 11:64571717-64571717
GRCh38: 11:64804245-64804245
22 MEN1 NM_000244.3(MEN1):c.1779G>A (p.Lys593=) SNV Uncertain significance 215962 rs373669288 GRCh37: 11:64571875-64571875
GRCh38: 11:64804403-64804403
23 MEN1 NM_001370259.2(MEN1):c.563C>T (p.Pro188Leu) SNV Uncertain significance 161295 rs199706698 GRCh37: 11:64575454-64575454
GRCh38: 11:64807982-64807982
24 MEN1 NM_000244.3(MEN1):c.1201-10C>T SNV Uncertain significance 305313 rs762303621 GRCh37: 11:64572680-64572680
GRCh38: 11:64805208-64805208
25 MEN1 NM_000244.3(MEN1):c.-94G>A SNV Uncertain significance 305319 rs886048480 GRCh37: 11:64578172-64578172
GRCh38: 11:64810700-64810700
26 MEN1 NM_000244.3(MEN1):c.*392G>A SNV Uncertain significance 305304 rs886048475 GRCh37: 11:64571414-64571414
GRCh38: 11:64803942-64803942
27 MEN1 NM_000244.3(MEN1):c.1550C>T (p.Ser517Leu) SNV Uncertain significance 188265 rs141679530 GRCh37: 11:64572104-64572104
GRCh38: 11:64804632-64804632
28 MEN1 NM_000244.3(MEN1):c.789G>C (p.Gln263His) SNV Uncertain significance 41855 rs374659656 GRCh37: 11:64575033-64575033
GRCh38: 11:64807561-64807561
29 MEN1 NM_000244.3(MEN1):c.*557C>A SNV Uncertain significance 305298 rs886048471 GRCh37: 11:64571249-64571249
GRCh38: 11:64803777-64803777
30 MEN1 NM_000244.3(MEN1):c.61C>A (p.Arg21Ser) SNV Uncertain significance 305315 rs541476418 GRCh37: 11:64577521-64577521
GRCh38: 11:64810049-64810049
31 MEN1 NM_001370259.2(MEN1):c.1414G>C (p.Gly472Arg) SNV Uncertain significance 878550 GRCh37: 11:64572225-64572225
GRCh38: 11:64804753-64804753
32 MEN1 NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) SNV Uncertain significance 188099 rs750112288 GRCh37: 11:64572230-64572230
GRCh38: 11:64804758-64804758
33 MEN1 NM_000244.3(MEN1):c.1366-4C>T SNV Uncertain significance 215961 rs764408631 GRCh37: 11:64572292-64572292
GRCh38: 11:64804820-64804820
34 MEN1 NM_000244.3(MEN1):c.768C>T (p.Thr256=) SNV Uncertain significance 412561 rs763326062 GRCh37: 11:64575054-64575054
GRCh38: 11:64807582-64807582
35 MEN1 NM_001370259.2(MEN1):c.655-6C>G SNV Uncertain significance 241822 rs77461664 GRCh37: 11:64575158-64575158
GRCh38: 11:64807686-64807686
36 MEN1 NM_000244.3(MEN1):c.585G>A (p.Gly195=) SNV Uncertain significance 412579 rs547249181 GRCh37: 11:64575447-64575447
GRCh38: 11:64807975-64807975
37 MEN1 NM_001370259.2(MEN1):c.*245C>T SNV Uncertain significance 879089 GRCh37: 11:64571561-64571561
GRCh38: 11:64804089-64804089
38 MEN1 NM_001370259.2(MEN1):c.274C>A (p.Arg92Ser) SNV Uncertain significance 879189 GRCh37: 11:64577308-64577308
GRCh38: 11:64809836-64809836
39 MEN1 NM_001370259.2(MEN1):c.*126C>T SNV Uncertain significance 880309 GRCh37: 11:64571680-64571680
GRCh38: 11:64804208-64804208
40 MEN1 NM_000244.3(MEN1):c.1064+9C>T SNV Uncertain significance 36519 rs200517349 GRCh37: 11:64573695-64573695
GRCh38: 11:64806223-64806223
41 MEN1 NM_000244.3(MEN1):c.1018C>A (p.Arg340=) SNV Uncertain significance 255616 rs371364206 GRCh37: 11:64573750-64573750
GRCh38: 11:64806278-64806278
42 MEN1 NM_001370259.2(MEN1):c.965T>C (p.Met322Thr) SNV Uncertain significance 880344 GRCh37: 11:64573788-64573788
GRCh38: 11:64806316-64806316
43 MEN1 NM_000244.3(MEN1):c.30G>T (p.Leu10=) SNV Uncertain significance 136169 rs371192390 GRCh37: 11:64577552-64577552
GRCh38: 11:64810080-64810080
44 MEN1 NM_000244.3(MEN1):c.*104C>T SNV Uncertain significance 305311 rs886048477 GRCh37: 11:64571702-64571702
GRCh38: 11:64804230-64804230
45 MEN1 NM_000244.3(MEN1):c.-23-14G>C SNV Uncertain significance 305316 rs886048479 GRCh37: 11:64577618-64577618
GRCh38: 11:64810146-64810146
46 MEN1 NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) SNV Likely benign 161294 rs143329068 GRCh37: 11:64575506-64575506
GRCh38: 11:64808034-64808034
47 MEN1 NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) SNV Likely benign 41854 rs607969 GRCh37: 11:64575505-64575505
GRCh38: 11:64808033-64808033
48 MEN1 NM_000244.3(MEN1):c.670-6C>T SNV Likely benign 96253 rs77461664 GRCh37: 11:64575158-64575158
GRCh38: 11:64807686-64807686
49 MEN1 NM_000244.3(MEN1):c.*185C>T SNV Likely benign 305310 rs111895237 GRCh37: 11:64571621-64571621
GRCh38: 11:64804149-64804149
50 MEN1 NM_000244.3(MEN1):c.*794G>A SNV Likely benign 305295 rs117705251 GRCh37: 11:64571012-64571012
GRCh38: 11:64803540-64803540
Sources

Expression for Hyperparathyroidism

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Search GEO for disease gene expression data for Hyperparathyroidism.
Sources

Pathways for Hyperparathyroidism

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Pathways related to Hyperparathyroidism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Parathyroid hormone synthesis, secretion and action 36
11.25 VDR PTHLH PTH GCM2 FGF23 CYP27B1
2
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.21 VDR PTH CYP27B1 CALCA BGLAP
3
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 23
10.94 VDR PTHLH PTH PRKAR1A BGLAP
4
Osteoblast Signaling 1
10.64 PTH FGF23 BGLAP
5
Vitamin D Metabolism 1
10.43 VDR PTH CYP27B1
Sources

GO Terms for Hyperparathyroidism

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 10.02 PTHLH FGF23 EPO CDKN1B CASR
2 negative regulation of cell proliferation GO:0008285 9.95 VDR PTHLH MEN1 CYP27B1 CDKN1B CDC73
3 response to drug GO:0042493 9.92 RET PTH CDKN1B BGLAP
4 cell-cell signaling GO:0007267 9.91 PTHLH PTH PHEX CALCA
5 ossification GO:0001503 9.8 CASR BGLAP ACP5
6 negative regulation of epithelial cell proliferation GO:0050680 9.77 MEN1 CDKN1B CDC73
7 skeletal system development GO:0001501 9.77 VDR PTHLH PTH PHEX BGLAP
8 response to estrogen GO:0043627 9.76 EPO CYP27B1 BGLAP
9 calcium ion homeostasis GO:0055074 9.69 TRPV6 PTH CYP27B1
10 decidualization GO:0046697 9.67 VDR MEN1 CYP27B1
11 cellular calcium ion homeostasis GO:0006874 9.65 VDR PTH GCM2 CASR CALCA
12 regulation of bone mineralization GO:0030500 9.63 FGF23 CYP27B1 BGLAP
13 bone mineralization GO:0030282 9.62 PTHLH PHEX CYP27B1 BGLAP
14 cellular response to parathyroid hormone stimulus GO:0071374 9.61 PHEX FGF23
15 osteoblast development GO:0002076 9.61 PTHLH MEN1 BGLAP
16 cellular phosphate ion homeostasis GO:0030643 9.6 GCM2 FGF23
17 response to fibroblast growth factor GO:0071774 9.58 PTH CASR
18 vitamin D metabolic process GO:0042359 9.58 VDR FGF23 CYP27B1
19 phosphate ion homeostasis GO:0055062 9.57 PTH FGF23
20 negative regulation of calcium ion transport into cytosol GO:0010523 9.56 EPO CALCA
21 response to sodium phosphate GO:1904383 9.55 PHEX FGF23
22 cAMP metabolic process GO:0046058 9.54 PTHLH PTH
23 vitamin D catabolic process GO:0042369 9.52 FGF23 CYP27B1
24 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.33 VDR FGF23 CYP27B1
25 response to vitamin D GO:0033280 9.26 PTH PHEX CYP27B1 BGLAP
26 cellular response to vitamin D GO:0071305 8.92 PHEX FGF23 CASR BGLAP

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.02 PTHLH PTH GAST EPO CALCA
2 peptide hormone receptor binding GO:0051428 8.96 PTHLH PTH
Sources

Sources for Hyperparathyroidism

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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