MCID: NPH003
MIFTS: 49

Nephrocalcinosis

Categories: Rare diseases, Nephrological diseases, Metabolic diseases

Aliases & Classifications for Nephrocalcinosis

MalaCards integrated aliases for Nephrocalcinosis:

Name: Nephrocalcinosis 12 72 49 28 51 41 14 69
Hypercalcemic Nephropathy 49 69

Classifications:



External Ids:

Disease Ontology 12 DOID:12679
MeSH 41 D009397
NCIt 46 C84918

Summaries for Nephrocalcinosis

NIH Rare Diseases : 49 Nephrocalcinosis is a disorder that occurs when too much calcium is deposited in the kidneys. It commonly occurs in premature infants. Individuals may not have symptoms or may have symptoms related to the condition causing nephrocalcinosis. If kidney stones are present, symptoms may include blood in the urine, fever and chills, nausea and vomiting, and severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements, infection, or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome, and a variety of other conditions. Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. Treatment differs depending on the cause of nephrocalcinosis and often aims to prevent more calcium from being deposited in the kidneys. Last updated: 4/17/2017

MalaCards based summary : Nephrocalcinosis, also known as hypercalcemic nephropathy, is related to renal tubular acidosis, distal and hypophosphatemic rickets, x-linked recessive. An important gene associated with Nephrocalcinosis is CLDN16 (Claudin 16), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glycine, serine and threonine metabolism. The drugs Potassium Citrate and Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and thyroid, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 72 Nephrocalcinosis, once known as Albright\'s calcinosis after Fuller Albright, or Anderson-Carr kidneys,... more...

Related Diseases for Nephrocalcinosis

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

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 renal tubular acidosis, distal 32.3 ATP6V1B1 SLC4A1
2 hypophosphatemic rickets, x-linked recessive 32.0 CLCN5 CYP24A1 SLC34A1
3 idiopathic infantile hypercalcemia 31.9 CYP24A1 SLC34A1
4 dent disease 1 31.7 CLCN5 CLCNKB CLDN16 KCNJ1 SLC12A1
5 renal tubular acidosis, distal, autosomal recessive 31.5 ATP6V1B1 SLC4A1
6 hypercalciuria, absorptive, 2 30.5 CLCN5 CLDN16 KCNJ1
7 primary hyperoxaluria 30.2 AGXT GRHPR
8 fanconi syndrome 29.7 CLCN5 SLC34A1
9 nephrolithiasis, calcium oxalate 29.3 AGXT CLCN5 GRHPR SLC34A1
10 hypokalemia 29.0 CLCNKB KCNJ1 SLC12A1
11 nephrolithiasis 29.0 AGXT CLCN5 CLCNKB CLDN16 GRHPR SLC34A1
12 bartter disease 29.0 CLCN5 CLCNKB KCNJ1 SLC12A1
13 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 12.3
14 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 12.3
15 midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 12.2
16 hypomagnesemia 3, renal 11.9
17 amelogenesis imperfecta, type ig 11.9
18 amelogenesis imperfecta hypoplastic type, ig 11.9
19 renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies 11.9
20 blue diaper syndrome 11.7
21 hypomagnesemia 5, renal, with ocular involvement 11.6
22 hypercalcemia, infantile, 1 11.3
23 renal tubular acidosis, distal, autosomal dominant 11.2
24 short syndrome 11.2
25 hypogonadism-cataract syndrome 11.2
26 hypocalcemia, autosomal dominant 1 11.1
27 hyperoxaluria, primary, type ii 11.1
28 apparent mineralocorticoid excess 11.1
29 hyperoxaluria, primary, type i 11.1
30 dent disease 2 10.9
31 bartter syndrome, type 5, antenatal, transient 10.9
32 nephrolithiasis, x-linked recessive, with renal failure 10.9
33 renal tubular acidosis, distal, with hemolytic anemia 10.9
34 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 10.9
35 hypercalcemia, infantile, 2 10.9
36 lubinsky syndrome 10.8
37 bartter syndrome, type 2, antenatal 10.7
38 renal tubular acidosis, distal, with progressive nerve deafness 10.7
39 bartter syndrome, type 1, antenatal 10.7
40 hypocalcemia, autosomal dominant 2 10.7
41 fanconi renotubular syndrome 4 with maturity-onset diabetes of the young 10.7
42 peroxisome biogenesis disorder 10b 10.7
43 slc4a1-associated distal renal tubular acidosis 10.7
44 renal tubular acidosis 10.4
45 hypomagnesemia 1, intestinal 10.4 CLDN16 CLDN19
46 primary hypomagnesemia 10.3 CLDN16 CLDN19
47 rickets 10.1
48 amelogenesis imperfecta 10.1
49 hyperparathyroidism 10.1
50 hypophosphatemic rickets with hypercalciuria, hereditary 10.1 CLDN16 SLC34A1

Graphical network of the top 20 diseases related to Nephrocalcinosis:



Diseases related to Nephrocalcinosis

Symptoms & Phenotypes for Nephrocalcinosis

GenomeRNAi Phenotypes related to Nephrocalcinosis according to GeneCards Suite gene sharing:

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.5 SLC4A1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-115 9.5 SLC4A1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.5 SLC34A1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.5 SLC34A1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-159 9.5 SLC12A1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.5 SLC12A1 SLC34A1 SLC4A1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.5 SLC12A1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.5 SLC4A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.5 SLC34A1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.5 SLC12A1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-56 9.5 SLC12A1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.5 SLC12A1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.5 SLC4A1

MGI Mouse Phenotypes related to Nephrocalcinosis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.73 CLCNKB CLDN16 CLDN19 CYP24A1 GRHPR KCNJ1
2 renal/urinary system MP:0005367 9.4 AGXT ATP6V1B1 CLCN5 CLCNKB CLDN16 CYP24A1

Drugs & Therapeutics for Nephrocalcinosis

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

(show top 50) (show all 62)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium Citrate Approved, Investigational, Vet_approved Phase 3
2
Hydrochlorothiazide Approved, Vet_approved Phase 2, Phase 3 58-93-5 3639
3
Denosumab Approved Phase 3 615258-40-7
4
Citric Acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 1406-16-2
6 Anticoagulants Phase 3
7 Calcium, Dietary Phase 3,Phase 2,Phase 1
8 Chelating Agents Phase 3
9 diuretics Phase 3,Phase 2
10 Expectorants Phase 3
11 Natriuretic Agents Phase 3,Phase 2
12 Pharmaceutical Solutions Phase 3
13 Respiratory System Agents Phase 3
14 Adrenocorticotropic Hormone Phase 2, Phase 3
15 beta-endorphin Phase 2, Phase 3
16 Bone Density Conservation Agents Phase 2, Phase 3
17 Endorphins Phase 2, Phase 3
18 Hormone Antagonists Phase 2, Phase 3
19 Hormones Phase 2, Phase 3
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3
21 Melanocyte-Stimulating Hormones Phase 2, Phase 3
22 Neurotransmitter Agents Phase 2, Phase 3
23 Vitamins Phase 3,Phase 2
24 Antihypertensive Agents Phase 2, Phase 3
25 Sodium Chloride Symporter Inhibitors Phase 2, Phase 3
26 Calcimimetic Agents Phase 3
27 Cinacalcet Hydrochloride Phase 3
28 Citrate Nutraceutical Phase 3
29
Amiloride Approved Phase 2 2609-46-3, 2016-88-8 16231
30
Teriparatide Approved, Investigational Phase 2 52232-67-4 16133850
31
Rifampin Approved Phase 2,Phase 1 13292-46-1 5381226 5458213
32
Alfacalcidol Approved, Nutraceutical Phase 2 41294-56-8 5282181
33 potassium phosphate Phase 1, Phase 2
34 Diuretics, Potassium Sparing Phase 2
35 Hydroxycholecalciferols Phase 2
36 Micronutrients Phase 2
37 Sodium Channel Blockers Phase 2
38 Trace Elements Phase 2
39 Anti-Bacterial Agents Phase 2,Phase 1
40 Antibiotics, Antitubercular Phase 2,Phase 1
41 Anti-Infective Agents Phase 2,Phase 1
42 Antitubercular Agents Phase 2,Phase 1
43 Cytochrome P-450 CYP3A Inducers Phase 2,Phase 1
44 Nucleic Acid Synthesis Inhibitors Phase 2,Phase 1
45 Phosphorus Supplement Nutraceutical Phase 1, Phase 2
46
Magnesium Sulfate Approved, Investigational, Vet_approved 7487-88-9 24083
47
Caffeine Approved, Nutraceutical 58-08-2 2519
48
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
49 Central Nervous System Stimulants
50 Phosphodiesterase Inhibitors

Interventional clinical trials:

(show all 18)

# Name Status NCT ID Phase Drugs
1 Study to Assess the Efficacy and Safety of Oral Potassium Citrate on the Prevention of Nephrocalcinosis in Extreme Premature Unknown status NCT01756547 Phase 3 Potassium Citrate;Placebo
2 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
3 Alkaline Citrate Treatment to Lower the Risk of Nephrocalcinosis in Preterm Infants Completed NCT00249951 Phase 3 Alkaline citrate
4 Effects of PTH Replacement on Bone in Hypoparathyroidism Completed NCT00395538 Phase 3 PTH 1-34
5 Treatment of Primary Hyperparathyroidism With Denosumab and Cinacalcet. Enrolling by invitation NCT03027557 Phase 3 Cinacalcet 30 mg Tablet;Denosumab Inj 60 mg/ml
6 Dose-Dependent Effect of Thiazide in Dent's Disease Hypercalciuria Terminated NCT00638482 Phase 2, Phase 3 Hydrochlorothiazide
7 Role Of Phosphorus And FGF 23 In Patients With Dent Disease Recruiting NCT02016235 Phase 1, Phase 2 Phosphorus Supplement
8 Recombinant Human rhPTH(1-34) VS Association Alfacalcidol/Hydrochlorothiazide in Severe Primary Hypoparathyroidism Recruiting NCT02824718 Phase 2 Teriparatide;Thiazide;Potassium sparing diuretic;Alfacalcidol
9 Rifampin in CYP24A1-related Hypercalcemia and Hypercalciuria Not yet recruiting NCT03301038 Phase 2 Rifampin
10 The Antibiotic Rifampin to Reduce High Levels of Blood and Urine Calcium in IIH Recruiting NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
11 Renal Tubular Acidosis in Incident Renal Transplant Recipients Unknown status NCT01283880
12 Preterm Infants and Nephrocalcinosis Completed NCT02438267
13 Effect of Caffeine on Preterm Infants' Bone Mineral Content Completed NCT03084432
14 Search for New Genetic Causes of Hypercalcemia by Massively Parallel Sequencing of a Genes Panel Recruiting NCT02908542
15 Randall's Plaque Study: Pathogenesis and Relationship to Nephrolithiasis Recruiting NCT00169806
16 Monitored vs Standard Supplementation of Vitamin D in Preterm Infants Recruiting NCT03087149
17 Effect of Magnesium Sulfate Infusion Rate on Magnesium Retention in Critically Ill Patients Terminated NCT01426165 Magnesium Sulfate
18 International Registry for Primary Hyperoxaluria Withdrawn NCT00875823

Search NIH Clinical Center for Nephrocalcinosis

Cochrane evidence based reviews: nephrocalcinosis

Genetic Tests for Nephrocalcinosis

Genetic tests related to Nephrocalcinosis:

# Genetic test Affiliating Genes
1 Nephrocalcinosis 28

Anatomical Context for Nephrocalcinosis

MalaCards organs/tissues related to Nephrocalcinosis:

38
Kidney, Bone, Thyroid, Liver, Heart, T Cells, Testes

Publications for Nephrocalcinosis

Articles related to Nephrocalcinosis:

(show top 50) (show all 584)
# Title Authors Year
1
Caspase-independent programmed cell death triggers Ca<sub>2</sub>PO<sub>4</sub>deposition in an<i>in vitro</i>model of nephrocalcinosis. ( 29208768 )
2018
2
Oral administration of oxalate-enriched spinach extract as an improved methodology for the induction of dietary hyperoxaluric nephrocalcinosis in experimental rats. ( 28980857 )
2018
3
Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation. ( 29439260 )
2018
4
Nephrocalcinosis in a patient with rheumatoid arthritis and secondary SjAPgren's syndrome. ( 28359765 )
2017
5
Medullary Nephrocalcinosis in a Furosemide Abuser. ( 28090060 )
2017
6
Infant nephrolithiasis and nephrocalcinosis: Natural history and predictors of surgical intervention. ( 28729176 )
2017
7
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis andA nephrocalcinosis. ( 28893421 )
2017
8
The macrophage phenotype and inflammasome component NLRP3 contributes to nephrocalcinosis-related chronic kidney disease independent from IL-1-mediated tissue injury. ( 29241624 )
2017
9
Medullary nephrocalcinosis in idiopathic hypercalciuria. ( 29152298 )
2017
10
A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients. ( 28095294 )
2017
11
Focal segmental glomerulosclerosis and medullary nephrocalcinosis in children with ADCK4 mutations. ( 28405841 )
2017
12
Renal Cysts and Nephrocalcinosis in 11 Beta-hydroxylase Deficiency. ( 28904442 )
2017
13
Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3a8c. ( 28152538 )
2017
14
Successful treatment of early allograft dysfunction with cinacalcet in a patient with nephrocalcinosis caused by severe hyperparathyroidism: a case report. ( 28390426 )
2017
15
Infants With Congenital Adrenal Hyperplasia Are at Risk for Hypercalcemia, Hypercalciuria, and Nephrocalcinosis. ( 29264571 )
2017
16
Nephrocalcinosis among children at king hussein medical center: Causes and outcome. ( 28937064 )
2017
17
A case control analysis investigating risk factors and outcomes for nephrocalcinosis and renal calculi in neonates. ( 28821388 )
2017
18
AJKD Atlas of Renal Pathology: Nephrocalcinosis and Acute Phosphate Nephropathy. ( 28236887 )
2017
19
Nephrocalcinosis in a young male with anorexia nervosa. ( 28669007 )
2017
20
Correction: Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 28947560 )
2017
21
Pseudoxanthoma elasticum and nephrocalcinosis. ( 27181788 )
2016
22
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations. ( 27530400 )
2016
23
Rare case of nephrocalcinosis in a 14-year-old girl: Questions. ( 27384690 )
2016
24
Bilateral Nephrocalcinosis in Primary Distal Renal Tubular Acidosis. ( 27090423 )
2016
25
A rare case of nephrocalcinosis in the distal tubules caused by hereditary renal hypouricemia three months after kidney transplantation. ( 26971588 )
2016
26
Osteopontin protects against high phosphate-induced nephrocalcinosis andA vascularA calcification. ( 27083280 )
2016
27
Failure to thrive and nephrocalcinosis due to distal renal tubular acidosis: A rare presentation of pediatric lupus nephritis. ( 27900972 )
2016
28
Lakes of Extramedullary Hematopoiesis in a Renal Hemangioma With Extensive Nephrocalcinosis. ( 27571793 )
2016
29
Hypercalcemia and nephrocalcinosis complicating subcutaneous fat necrosis in a newborn after therapeutic hypothermia. ( 27277205 )
2016
30
Genetic, Pathophysiological and Clinical Aspects of Nephrocalcinosis. ( 27605580 )
2016
31
Re: Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. ( 27479436 )
2016
32
Rare case of nephrocalcinosis in a 14-year-old girl: Answers. ( 27384692 )
2016
33
Claudin 19-based familial hypomagnesemia with hypercalciuria and nephrocalcinosis in a sibling pair. ( 27007868 )
2016
34
Bilateral nephrocalcinosis in primary hyperoxaluria type 1. ( 27795638 )
2016
35
Nephrocalcinosis in Tunisian children. ( 27704510 )
2016
36
Recent advances in managing and understanding nephrolithiasis/nephrocalcinosis. ( 27134735 )
2016
37
Hashimoto Thyroiditis and Nephrocalcinosis in a Child with Down Syndrome. ( 27147809 )
2016
38
Nephrocalcinosis and retinal dystrophy, rare manifestations of MPV17-related mitochondrial depletion syndrome? ( 27668186 )
2016
39
A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family. ( 27067446 )
2016
40
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. ( 26787776 )
2016
41
Malabsorption syndrome as a rare cause of nephrocalcinosis. ( 28228792 )
2016
42
Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency. ( 27378183 )
2016
43
Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. ( 27079129 )
2016
44
Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis. ( 26090995 )
2015
45
Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report. ( 26097369 )
2015
46
An Association of Chronic Hyperaldosteronism with Medullary Nephrocalcinosis. ( 26413177 )
2015
47
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis. ( 26304832 )
2015
48
Posttransplant nephrocalcinosis is associated with poor renal allograft function: a single-center experience. ( 25829877 )
2015
49
Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation. ( 25595726 )
2015
50
Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia. ( 25868949 )
2015

Variations for Nephrocalcinosis

Expression for Nephrocalcinosis

Search GEO for disease gene expression data for Nephrocalcinosis.

Pathways for Nephrocalcinosis

Pathways related to Nephrocalcinosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.56 ATP6V1B1 CLCN5 CLCNKB SLC12A1 SLC34A1 SLC4A1
2
Show member pathways
11.04 AGXT GRHPR
3
Show member pathways
10.87 AGXT GRHPR
4 10.6 AGXT GRHPR
5 10.26 CLCNKB KCNJ1 SLC12A1

GO Terms for Nephrocalcinosis

Cellular components related to Nephrocalcinosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.61 CLCN5 CLCNKB CLDN16 CLDN19 CYP24A1 KCNJ1
2 peroxisomal matrix GO:0005782 9.16 AGXT GRHPR
3 basolateral plasma membrane GO:0016323 8.8 ATP6V1B1 CLDN19 SLC4A1

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

# Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.86 ATP6V1B1 CLCN5 CLCNKB CLDN16 KCNJ1 SLC12A1
2 ion transmembrane transport GO:0034220 9.62 ATP6V1B1 CLCN5 CLCNKB SLC12A1
3 ion transport GO:0006811 9.56 ATP6V1B1 CLCN5 CLCNKB CLDN16 KCNJ1 SLC12A1
4 chloride transport GO:0006821 9.54 CLCN5 CLCNKB SLC4A1
5 calcium ion homeostasis GO:0055074 9.48 ATP6V1B1 FAM20A
6 cellular nitrogen compound metabolic process GO:0034641 9.46 AGXT GRHPR
7 chloride transmembrane transport GO:1902476 9.46 CLCN5 CLCNKB SLC12A1 SLC4A1
8 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.43 CLDN16 CLDN19
9 regulation of anion transmembrane transport GO:1903959 9.4 CLCN5 CLCNKB
10 excretion GO:0007588 9.1 ATP6V1B1 CLCN5 CLCNKB CLDN16 GRHPR KCNJ1

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated chloride channel activity GO:0005247 8.62 CLCN5 CLCNKB

Sources for Nephrocalcinosis

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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