MCID: HYP069
MIFTS: 66

Hyperparathyroidism malady

Genetic diseases, Rare diseases, Endocrine diseases, Cancer diseases categories

Summaries for Hyperparathyroidism

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Disease Ontology:10 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 primary hyperparathyroidism and hyperparathyroidism-jaw tumor syndrome. An important gene associated with Hyperparathyroidism is CDC73 (cell division cycle 73), and among its related pathways are Drug Induction of Bile Acid Pathway and Osteoblast Signaling. The drugs cod liver oil and calcitriol and the compounds calcifediol and pyridinoline have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and thyroid, and related mouse phenotypes are craniofacial and integument.

Wikipedia:65 Hyperparathyroidism is overactivity of the parathyroid glands resulting in excess production of... more...

Aliases & Classifications for Hyperparathyroidism

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Sources:
10Disease Ontology, 12DISEASES, 45Novoseek, 62UMLS, 57SNOMED-CT, 29ICD9CM, 35MeSH, 40NCIt
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Hyperparathyroidism, Aliases & Descriptions:

Name: Hyperparathyroidism 10 12 45 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Cancer diseases
Anatomical: Endocrine diseases


External Ids:

Disease Ontology10 DOID:13543
ICD9CM29 252.0, 252.00
MeSH35 D006961
NCIt40 C48259

Related Diseases for Hyperparathyroidism

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Diseases in the Hyperparathyroidism family:

Hyperparathyroidism 3 Hyperparathyroidism, Familial Primary
Primary Hyperparathyroidism

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

(show top 50)    (show all 300)
idRelated DiseaseScoreTop Affiliating Genes
1primary hyperparathyroidism31.6VDR, CYP27B1, BGLAP, PTH, PTHLH, PRKAR1A
2hyperparathyroidism-jaw tumor syndrome31.2CDC73
3adenoma31.1VDR, PTH, PRKAR1A, RET, MEN1, CASR
4parathyroid carcinoma31.0PTH, MEN1, CASR, CDC73
5parathyroid adenoma31.0VDR, PTH, PTHLH, PRKAR1A, RET, MEN1
6multiple endocrine neoplasia31.0PRKAR1A, RET, MEN1, CALCA, CDC73
7kidney disease30.9FGF23, CASR, VDR
8hypercalcemia30.9BGLAP, PTH, PTHLH, PRKAR1A, MEN1, CASR
9osteitis fibrosa30.9ALPP, CASR, PTH, BGLAP
10osteomalacia30.7FGF23, ALPP, CALCA, CASR, VDR, CYP27B1
11uremia30.7VDR, PTH, MEN1, CASR, NR1I3
12hyperparathyroidism, neonatal30.7NR1I3, CASR, PRKAR1A
13nephrocalcinosis30.6CASR, NR1I3
14renal osteodystrophy30.6VDR, BGLAP, PTH, ACP5, CASR, CALCA
15goiter30.6BGLAP, PTH, RET, CALCA
16pheochromocytoma30.5RET, MEN1, CALCA
17rickets30.5VDR, CYP27B1, BGLAP, PTH, ACP5, ALPP
18hyperphosphatemia30.5VDR, PTH, CASR, ALPP, FGF23
19hyperthyroidism30.4BGLAP, PTH, ACP5, ALPP, FGF23
20pseudohypoparathyroidism30.4BGLAP, PTH, PTHLH, CALCA
21thyroid cancer30.4RET, CASR, CALCA
22calcinosis30.3FGF23, ALPP, CASR, PTH
23secondary hyperparathyroidism of renal origin30.3PTHLH, PRKAR1A, MEN1, ACP5, CASR, CALCA
24hyperparathyroidism 330.3MEN1, CDC73
25nephrolithiasis30.3VDR, CASR
26osteoporosis30.2CYP27B1, BGLAP, PTH, PTHLH, PRKAR1A, ACP5
27fibrous dysplasia30.2BGLAP, ALPP, FGF23
28nodular goiter30.2RET, CALCA
29hypoparathyroidism30.2BGLAP, PTH, PTHLH, PRKAR1A, RET, CASR
30ossifying fibroma30.2CDC73
31rickets, vitamin d-resistant, type iia30.2VDR, CYP27B1
32multiple endocrine neoplasia iia30.2PTH, RET, MEN1, CALCA, CDC73
33thyroid adenoma30.2PRKAR1A, RET
34myeloma30.2BGLAP, PTHLH, ACP5, ALPP
35insulinoma30.1MEN1, CASR, CALCA
36multiple endocrine neoplasia 130.1PRKAR1A, MEN1, CDC73
37graves' disease30.1VDR, CYP27B1, BGLAP, CASR, FGF23
38acromegaly30.1BGLAP, PRKAR1A, MEN1
39hypothyroidism30.1RET, CALCA
40prolactinoma30.1MEN1, PRKAR1A, PTHLH
41hypophosphatemia30.1FGF23, ALPP, CALCA, PTHLH, VDR, CYP27B1
42giant cell tumor30.0CALCA
43hypophosphatasia30.0ALPP
44mccune-albright syndrome, somatic, mosaic30.0PRKAR1A, FGF23
45breast cancer30.0VDR, CYP27B1, PTH, PTHLH, PRKAR1A, MEN1
46arthritis29.9VDR, BGLAP, ACP5, CALCA, ALPP
47hypervitaminosis d29.8FGF23, CYP27B1
48brachydactyly29.8PTH
49gastrinoma29.8CASR, MEN1
50hyperostosis29.8BGLAP, FGF23

Graphical network of the top 20 diseases related to Hyperparathyroidism:



Diseases related to hyperparathyroidism

Symptoms for Hyperparathyroidism

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Drugs & Therapeutics for Hyperparathyroidism

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Drug clinical trials:

Search ClinicalTrials for Hyperparathyroidism

Search NIH Clinical Center for Hyperparathyroidism

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Hyperparathyroidism

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Anatomical Context for Hyperparathyroidism

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MalaCards organs/tissues related to Hyperparathyroidism:

33
Bone, Kidney, Thyroid, Testes, Endothelial, Liver, Lung, Breast, Bone marrow, Pituitary, Pancreatic islet, Eye, Thymus, Brain, Colon, Skin, Prostate, Neutrophil

Animal Models for Hyperparathyroidism or affiliated genes

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MGI Mouse Phenotypes related to Hyperparathyroidism:

37 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.9MEN1, PRKAR1A, PTHLH, PTH, VDR
2MP:00107718.6VDR, CYP27B1, PTHLH, CASR, CALCA, CDC73
3MP:00053698.6VDR, PRKAR1A, RET, MEN1, CASR, CDC73
4MP:00053678.4VDR, CYP27B1, PTHLH, RET, CASR, CALCA
5MP:00053888.4PTHLH, PRKAR1A, RET, CALCA, CDC73, FGF23
6MP:00053718.3VDR, CYP27B1, PTH, PTHLH, RET, ACP5
7MP:00053818.2VDR, PTHLH, PRKAR1A, RET, MEN1, CASR
8MP:00053798.1VDR, CYP27B1, PTH, PTHLH, PRKAR1A, RET
9MP:00053808.0PRKAR1A, RET, MEN1, CALCA, ALPP, CDC73
10MP:00053847.9VDR, CYP27B1, PTHLH, PRKAR1A, RET, MEN1
11MP:00053907.8VDR, CYP27B1, PTH, PTHLH, PRKAR1A, ACP5
12MP:00053857.8VDR, PTH, PTHLH, PRKAR1A, RET, MEN1
13MP:00053897.5PRKAR1A, PTHLH, CYP27B1, VDR, RET, MEN1
14MP:00053977.4VDR, CYP27B1, PTH, PTHLH, PRKAR1A, RET
15MP:00053877.3VDR, CYP27B1, PTH, PTHLH, PRKAR1A, RET
16MP:00053767.2PRKAR1A, PTHLH, PTH, CYP27B1, VDR, RET
17MP:00053787.0FGF23, VDR, CYP27B1, PTH, PTHLH, PRKAR1A
18MP:00107686.8RET, PRKAR1A, PTHLH, PTH, VDR, MEN1

Publications for Hyperparathyroidism

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Articles related to Hyperparathyroidism:

(show top 50)    (show all 1768)
idTitleAuthorsYear
1
Parathyroid adenoma in third pharyngeal pouch cyst as a rare case of primary hyperparathyroidism. (25245714)
2014
2
Differentiating familial hypocalciuric hypercalcemia from primary hyperparathyroidism. (23425644)
2013
3
Is there a link between Hashimoto's thyroiditis and primary hyperparathyroidism? A study of serum parathormone and anti-TPO antibodies in 2267 patients. (23865082)
2013
4
Intraoperative PTH cutoff definition to predict successful parathyroidectomy in secondary and tertiary hyperparathyroidism. (23929152)
2013
5
Secondary and tertiary hyperparathyroidism. (23267748)
2013
6
The prevalence of undiagnosed and unrecognized primary hyperparathyroidism: a population-based analysis from the electronic medical record. (24383100)
2013
7
The diagnostic value of parathyroid hormone washout after fine-needle aspiration of suspicious cervical lesions in patients with hyperparathyroidism. (23553068)
2013
8
Radiographical appearance of osteitis fibrosa cystica in primary hyperparathyroidism before and after parathyroidectomy. (23365170)
2013
9
Epidemiology of Primary Hyperparathyroidism and its Non-classical Manifestations in the City of Recife, Brazil. (24348080)
2013
10
Arterial Hypertension, Metabolic Syndrome and Subclinical Cardiovascular Organ Damage in Patients with Asymptomatic Primary Hyperparathyroidism before and after Parathyroidectomy: Preliminary Results. (22719761)
2012
11
A comparison of outcomes for younger and older adult patients undergoing surgery for primary hyperparathyroidism. (22207049)
2012
12
Accidental discovery of lung metastases from differentiated thyroid cancer by 99mTc sodium pertechnetate scan in a patient with secondary hyperparathyroidism. (22889782)
2012
13
Preoperative a8^a8^mTc-sestamibi scintigraphy in patients with primary hyperparathyroidism and concomitant nodular goiter: comparison of SPECT-CT, SPECT, and planar imaging. (22825041)
2012
14
Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. (22232026)
2012
15
Transient hyperthyroidism after surgery for secondary hyperparathyroidism: a common problem. (21813380)
2011
16
CDC73-related hereditary hyperparathyroidism: five new mutations and the clinical spectrum. (21652691)
2011
17
Forearm bone mineral density in familial hypocalciuric hypercalcemia and primary hyperparathyroidism: a comparative study. (21785908)
2011
18
Primary hyperparathyroidism patients with positive preoperative sestamibi scan and negative ultrasound are more likely to have posteriorly located upper gland adenomas (PLUGs). (21207169)
2011
19
An association between invasive breast cancer and familial idiopathic hyperparathyroidism: a case series and review of the literature. (18500673)
2009
20
Phosphatemic effect of cinacalcet in kidney transplant recipients with persistent hyperparathyroidism. (18950915)
2008
21
Unusual case of calciphylaxis associated with primary hyperparathyroidism without coexistent renal failure. (18463046)
2008
22
Tc-99m sestamibi uptake mimicking parathyroid adenoma in a patient with primary hyperparathyroidism and occult multiple myeloma. (18287846)
2008
23
Normocalcemic, subclinical, asymptomatic primary hyperparathyroidism in patients with goiter or papillary thyroid cancer--preliminary report. Normocalcemic primary hyperparathyroidism and thyroid pathology. (17966885)
2007
24
Primary hyperparathyroidism due to parathyroid adenoma. (17268723)
2007
25
Regulation of plasma fibroblast growth factor 23 by calcium in primary hyperparathyroidism. (16381997)
2006
26
Prevalence of secondary hyperparathyroidism (SHPT) and causal factors in adult population in ReykjavA-k area]. (16155312)
2005
27
Assessment of therapeutic effect in patients with secondary hyperparathyroidism using bone scintigraphy. (16164192)
2005
28
Inhibition of growth hormone secretion in mild primary hyperparathyroidism. (15249740)
2004
29
The parathyroid hormone-2 receptor is expressed on human leukocytes and down-regulated in hyperparathyroidism. (12834174)
2003
30
The role of hyperparathyroidism, erythropoietin therapy, and CMV infection in the failure of arteriovenous fistula in hemodialysis. (12846770)
2003
31
Regulation of the calcium-sensing receptor. Influence of secondary hyperparathyroidism]. (12778846)
2003
32
Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. (12699448)
2003
33
Recovery pattern of patients with osteitis fibrosa cystica in primary hyperparathyroidism after successful parathyroidectomy. (12490858)
2002
34
Pathogenesis of refractory secondary hyperparathyroidism. (11982830)
2002
35
Visual vignette. Hyperparathyroidism due to a parathyroid adenoma. (11441818)
2000
36
Vitamin D deficiency and secondary hyperparathyroidism: clinical and biochemical associations in older non-institutionalised Southern Tasmanians. (10833112)
2000
37
Familial isolated hyperparathyroidism: a report of two cases]. (10689881)
2000
38
Molecular mechanisms of primary hyperparathyroidism. (11706744)
2000
39
A randomized trial of sevelamer hydrochloride (RenaGel) with and without supplemental calcium. Strategies for the control of hyperphosphatemia and hyperparathyroidism in hemodialysis patients. (9988142)
1999
40
Lack of relationship between BsmI vitamin D receptor polymorphism and primary hyperparathyroidism in a Spanish female population. (10441653)
1999
41
Novel V184E MEN1 germline mutation in a Japanese kindred with familial hyperparathyroidism. (9843042)
1998
42
Plasma chromogranin A in pheochromocytoma, primary hyperparathyroidism and pituitary adenoma in comparison with catecholamine, parathyroid hormone and pituitary hormones. (9228469)
1997
43
Prediction of bone mass in renal hyperparathyroidism by newly developed bone metabolic markers: evaluation of serum levels of carboxy-terminal pyridinoline cross-linked telopeptide of type I collagen and carboxy-terminal propeptide of type I procollagen. (8678946)
1996
44
Lack of influence of recombinant human erythropoietin on parathyroid function in hemodialysis patients with secondary hyperparathyroidism. (7566308)
1995
45
Renal function in hyperparathyroidism with complicating nephrocalcinosis. (8453206)
1993
46
Plasma intact parathyroid hormone (PTH) and PTH-related peptide in familial benign hypercalcemia: greater responsiveness to endogenous PTH than in primary hyperparathyroidism. (1997510)
1991
47
Chromogranin A and B in parathyroid tissue of cases of primary hyperparathyroidism: an immunohistochemical study. (2024450)
1991
48
Calciphylaxis in a renal dialysis patient with secondary hyperparathyroidism. (3452312)
1987
49
Nephrocalcinosis, hypercalcemia, sarcoidosis or primary hyperparathyroidism? (3983783)
1985
50
Intracranial calcification in hyperparathyroidism associated with gait apraxia and parkinsonism. (7191528)
1980

Variations for Hyperparathyroidism

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Expression for genes affiliated with Hyperparathyroidism

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Search GEO for disease gene expression data for Hyperparathyroidism.

Pathways for genes affiliated with Hyperparathyroidism

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Compounds for genes affiliated with Hyperparathyroidism

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Compounds related to Hyperparathyroidism according to GeneCards/GeneDecks:

(show top 50)    (show all 123)
idCompoundScoreTop Affiliating Genes
1calcifediol6110.0CYP27B1, VDR, NR1I3
2pyridinoline4510.0CALCA, ALPP
3sevelamer459.9FGF23, BGLAP, CASR
4paricalcitol45 1310.8VDR, CYP27B1, PTH
5calcipotriol45 61 30 1312.7NR1I3, BGLAP, VDR, CYP27B1
6thiazide459.7BGLAP, CASR, CALCA, VDR
7etidronic acid45 51 1311.6ALPP, CALCA, VDR
8ipriflavone459.6BGLAP, CALCA, ALPP
9cinacalcet45 30 1311.5CALCA, NR1I3, PRKAR1A, CASR
10gadolinium459.5PRKAR1A, CASR, NR1I3
11alfacalcidol45 61 1311.5CYP27B1, BGLAP, CALCA, VDR, NR1I3
12etidronate459.4CALCA, BGLAP, ALPP
13eb 108945 6110.4VDR, NR1I3, PTHLH, BGLAP, CYP27B1
1424,25-dihydroxyvitamin d3459.2VDR, CYP27B1, BGLAP, ALPP, CALCA
1522-oxacalcitriol459.2ALPP, CASR, VDR, BGLAP, PTHLH
16zoledronic acid459.2BGLAP, PTHLH, CALCA, ALPP
17clodronate45 51 1311.1CALCA, ACP5, VDR, PTHLH, BGLAP
18calcium carbonate459.1BGLAP, PTH, PTHLH, CALCA, ALPP
19neomycin459.0ALPP, NR1I3, PRKAR1A, PTHLH, CASR
20pamidronate45 51 1310.9BGLAP, PTH, PTHLH, CASR, CALCA, ALPP
21procollagen458.8ACP5, PTH, BGLAP, ALPP
22alendronate45 51 1310.8VDR, PTHLH, CALCA, ALPP, BGLAP, PTH
23tartrate458.8BGLAP, PTHLH, CALCA, ACP5, ALPP
24forskolin45 51 1310.8PRKAR1A, PTHLH, CYP27B1, PTH, CALCA, CASR
25thyroxine45 269.8CALCA, PTH, PTHLH, BGLAP, VDR, ALPP
26estradiol45 26 1310.7CYP27B1, BGLAP, PTH, PTHLH, ACP5, NR1I3
27deoxypyridinoline458.7ALPP, CALCA, ACP5, PTH, BGLAP, VDR
28hydroxyapatite458.6ALPP, BGLAP, ACP5, CASR, FGF23, PTHLH
29hydroxyproline45 26 1310.5CALCA, ALPP, ACP5, PTHLH, PTH, BGLAP
30cyclosporin a45 30 6110.4CALCA, CASR, BGLAP, ALPP, NR1I3, ACP5
31paraffin458.3ACP5, RET, PTHLH, ALPP, BGLAP, CYP27B1
32cyclic amp45 269.3NR1I3, CALCA, CASR, RET, PRKAR1A, CYP27B1
33thymidine45 269.2ALPP, NR1I3, MEN1, VDR, PTHLH, PTH
34vegf458.0CALCA, MEN1, BGLAP, PTHLH, PTH, ALPP
35alanine458.0ALPP, NR1I3, CASR, PTHLH, RET, BGLAP
36testosterone45 61 26 1310.9NR1I3, ALPP, CALCA, RET, PTHLH, VDR
37pge2457.8VDR, PTHLH, ACP5, CASR, CALCA, PTH
38dexamethasone45 51 30 1310.8PTH, BGLAP, VDR, ALPP, ACP5, PTHLH
39cysteine457.8VDR, ACP5, CASR, ALPP, PRKAR1A, BGLAP
40serine457.8PTHLH, BGLAP, VDR, RET, MEN1, CASR
41tyrosine457.8ACP5, MEN1, CYP27B1, RET, PTH, CASR
42creatinine457.8VDR, BGLAP, FGF23, PTH, PTHLH, CASR
4325-hydroxyvitamin d457.6BGLAP, PTH, PTHLH, ACP5, CASR, CALCA
44arginine457.5FGF23, NR1I3, BGLAP, PTH, PTHLH, CASR
45estrogen457.3ALPP, CYP27B1, PTH, NR1I3, CALCA, CASR
461,25 dihydroxy vitamin d3457.3PTHLH, ACP5, CASR, CALCA, ALPP, NR1I3
47calcitriol45 61 26 1310.3ALPP, CALCA, CASR, ACP5, PTHLH, PTH
48phosphorus457.3VDR, CYP27B1, BGLAP, PTH, PTHLH, ACP5
49vitamin d456.6VDR, CYP27B1, BGLAP, PTH, FGF23, PTHLH
50calcium45 51 26 139.2ACP5, CASR, MEN1, RET, PRKAR1A, PTHLH

GO Terms for genes affiliated with Hyperparathyroidism

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Cellular components related to Hyperparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.9FGF23, CALCA, PTHLH, PTH, BGLAP

Biological processes related to Hyperparathyroidism according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of keratinocyte differentiationGO:004561810.2CYP27B1, VDR
2vitamin D catabolic processGO:004236910.2CYP27B1, FGF23
3decidualizationGO:004669710.1CYP27B1, VDR
4cAMP metabolic processGO:004605810.1PTH, PTHLH
5regulation of bone mineralizationGO:003050010.1CYP27B1, BGLAP
6positive regulation of vitamin D 24-hydroxylase activityGO:001098010.0FGF23, CYP27B1, VDR
7response to vitamin DGO:003328010.0PTH, BGLAP, CYP27B1
8cellular calcium ion homeostasisGO:000687410.0CASR, PTH, VDR
9bone mineralizationGO:00302829.9BGLAP, CYP27B1
10response to painGO:00482659.9RET, CALCA
11osteoblast developmentGO:00020769.8BGLAP, PTHLH, MEN1
12positive regulation of cAMP biosynthetic processGO:00308199.8CALCA, PTHLH, PTH
13adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.8PTH, PTHLH, CALCA
14bone resorptionGO:00454539.7ACP5, PTH
15transcription initiation from RNA polymerase II promoterGO:00063679.6VDR, MEN1, NR1I3
16skeletal system developmentGO:00015019.6PTHLH, PTH, BGLAP, VDR
17negative regulation of cell proliferationGO:00082859.5VDR, CYP27B1, PTHLH, MEN1, CDC73
18negative regulation of transcription, DNA-templatedGO:00458929.4VDR, MEN1, CALCA, NR1I3
19negative regulation of transcription from RNA polymerase II promoterGO:00001229.2CDC73, MEN1, PTH, VDR

Molecular functions related to Hyperparathyroidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1peptide hormone receptor bindingGO:00514289.8PTHLH, PTH
2hormone activityGO:00051799.2CALCA, PTHLH, PTH

Products for genes affiliated with Hyperparathyroidism

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Sources for Hyperparathyroidism

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet