CON
MCID: OBS082
MIFTS: 42

Obstructive Nephropathy (CON)

Categories: Nephrological diseases

Aliases & Classifications for Obstructive Nephropathy

MalaCards integrated aliases for Obstructive Nephropathy:

Name: Obstructive Nephropathy 12 15
Con 12 74
Congenital Obstructive Nephropathy 12
Nephropathy Obstructive 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0070314

Summaries for Obstructive Nephropathy

Disease Ontology : 12 A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction.

MalaCards based summary : Obstructive Nephropathy, also known as con, is related to renal fibrosis and end stage renal disease. An important gene associated with Obstructive Nephropathy is SKIL (SKI Like Proto-Oncogene), and among its related pathways/superpathways are TGF-Beta Pathway and Endometrial cancer. The drugs Acetylcysteine and carbamide peroxide have been mentioned in the context of this disorder. Affiliated tissues include kidney, endothelial and bone, and related phenotypes are growth/size/body region and homeostasis/metabolism

Related Diseases for Obstructive Nephropathy

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

(show top 50) (show all 813)
# Related Disease Score Top Affiliating Genes
1 renal fibrosis 31.1 TGFB1 SMAD3 SMAD2 REN HGF ALB
2 end stage renal disease 31.0 REN ALB AGT ACE
3 congenital anomalies of kidney and urinary tract 2 30.8 TGFB1 REN LCN2 HAVCR1 AGTR2
4 cardiac arrest 30.7 REN LCN2 ALB ACE
5 acute cystitis 30.5 REN LCN2 ALB ACE
6 uremia 30.5 REN ALB ACE
7 sleep apnea 30.5 REN ALB AGT ACE
8 posterior urethral valves 30.5 TGFB1 AGTR2 AGT ACE
9 mitral valve insufficiency 30.4 REN ALB ACE
10 multicystic dysplastic kidney 30.4 REN AGTR2
11 atrial fibrillation 30.4 TGFB1 REN ALB AGT ACE
12 chronic kidney disease 30.4 TGFB1 REN LCN2 HGF HAVCR1 ALB
13 congestive heart failure 30.3 REN ALB AGT ACE
14 hydronephrosis 30.3 TGFB1 REN HAVCR1 EGF AMBP ALB
15 liver cirrhosis 30.3 TGFB1 REN HGF ALB
16 microvascular complications of diabetes 3 30.3 TGFB1 REN ALB ACE
17 keloid disorder 30.2 TGFB1 SMAD3
18 stroke, ischemic 30.2 REN ALB AGTR2 AGT ACE
19 renal dysplasia 30.2 REN AGT ACE
20 eclampsia 30.2 REN ALB AGT ACE
21 anuria 30.2 REN LCN2 HAVCR1 ALB AGT ACE
22 patent ductus arteriosus 1 30.1 REN ALB ACE
23 pyelonephritis 30.1 TGFB1 LCN2 AMBP ALB ACE
24 hypertrophic scars 30.1 TGFB1 SMAD3 SMAD2
25 heart valve disease 30.1 TGFB1 REN ALB ACE
26 pre-eclampsia 30.1 REN ALB AGTR2 AGT ACE
27 nephrolithiasis 30.1 LCN2 AMBP ALB AGT
28 pulmonary hypertension 30.1 SMAD3 SMAD2 REN ALB ACE
29 hypokalemia 30.1 REN ALB ACE
30 apnea, obstructive sleep 30.1 REN ALB AGT ACE
31 iga glomerulonephritis 30.1 REN ALB AGT ACE
32 impotence 30.0 ARG2 ALB ACE
33 lipoprotein quantitative trait locus 30.0 REN CLU ALB ACE
34 cardiac tamponade 30.0 REN ALB ACE
35 urinary tract obstruction 30.0 TGFB1 SMAD3 SMAD2 REN LCN2 HAVCR1
36 renovascular hypertension 30.0 REN LCN2 ACE
37 malignant hypertension 30.0 REN AGT ACE
38 obstructive jaundice 29.9 TGFB1 REN HGF ALB
39 vascular disease 29.9 TGFB1 REN ALB AGT ACE
40 acute kidney failure 29.9 REN LCN2 HGF HAVCR1 EGF ALB
41 mitral valve disease 29.9 REN AGT ACE
42 kidney disease 29.9 TGFB1 REN LCN2 HGF AMBP ALB
43 heart disease 29.9 TGFB1 REN LCN2 ALB AGTR2 AGT
44 non-alcoholic steatohepatitis 29.8 TGFB1 HGF ALB
45 pulmonary edema 29.8 REN AGT ACE
46 interstitial nephritis 29.7 TINAG REN HAVCR1 ALB AGT ACE
47 osteoporosis 29.6 TGFB1 SMAD3 SMAD2 HGF EGF ALB
48 diabetes mellitus 29.6 TGFB1 REN LCN2 AMBP ALB AGT
49 vesicoureteral reflux 1 29.6 TGFB1 REN LCN2 AMBP ALB AGTR2
50 cystic kidney disease 29.5 REN HAVCR1 EGF ALB ACE

Graphical network of the top 20 diseases related to Obstructive Nephropathy:



Diseases related to Obstructive Nephropathy

Symptoms & Phenotypes for Obstructive Nephropathy

MGI Mouse Phenotypes related to Obstructive Nephropathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ACE AGT AGTR2 EGF GFER HGF
2 homeostasis/metabolism MP:0005376 10.24 ACE AGT AGTR2 ALB ARG2 CLU
3 cardiovascular system MP:0005385 10.23 ACE AGT AGTR2 ALB CLU HGF
4 endocrine/exocrine gland MP:0005379 10.17 ACE AGTR2 ALB AMBP EGF LCN2
5 immune system MP:0005387 10.17 ACE AGT AGTR2 ALB CLU EGF
6 liver/biliary system MP:0005370 9.91 ACE AGT ALB GFER HGF LCN2
7 neoplasm MP:0002006 9.76 ACE AGTR2 ALB GFER SKIL SMAD2
8 renal/urinary system MP:0005367 9.61 ACE AGT AGTR2 ALB CLU LCN2
9 reproductive system MP:0005389 9.36 ACE AGT AMBP EGF LCN2 PDGFD

Drugs & Therapeutics for Obstructive Nephropathy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational 616-91-1 12035
2
carbamide peroxide Approved 124-43-6
3 N-monoacetylcystine

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Does Ultra-High Dose i.v. N-acetylcysteine Prevent Contrast Nephropathy in Patients With Chronic Kidney Disease Undergoing Emergency Contrast Tomography. Completed NCT01467154
2 Measurement of Renal Artery Resistive Index as a Predictor of Severity of Lupus Nephritis and Its Response to Treatment Not yet recruiting NCT03958851
3 Mode of Drainage Of Bilaterally Obstructed Kidneys Due to Benign or Malignant Causes: A Prospective Comparative Study Not yet recruiting NCT04077008

Search NIH Clinical Center for Obstructive Nephropathy

Genetic Tests for Obstructive Nephropathy

Anatomical Context for Obstructive Nephropathy

MalaCards organs/tissues related to Obstructive Nephropathy:

40
Kidney, Endothelial, Bone, Monocytes, Prostate, Smooth Muscle, Liver

Publications for Obstructive Nephropathy

Articles related to Obstructive Nephropathy:

(show top 50) (show all 851)
# Title Authors PMID Year
1
Hepatocyte growth factor exerts its anti-inflammatory action by disrupting nuclear factor-kappaB signaling. 54 61
18502824 2008
2
Species differences in renal Src activity direct EGF receptor regulation in life or death response to EGF. 54 61
17626154 2007
3
Molecular basis for the cell type specific induction of SnoN expression by hepatocyte growth factor. 54 61
17625116 2007
4
Biochemical-molecular markers in unilateral ureteral obstruction. 61 54
17665634 2007
5
Downregulation of SnoN expression in obstructive nephropathy is mediated by an enhanced ubiquitin-dependent degradation. 54 61
16959829 2006
6
Implication of genetic variations in congenital obstructive nephropathy. 54 61
16133060 2005
7
Obstructive nephropathy: insights from genetically engineered animals. 61 54
16105023 2005
8
A novel mechanism by which hepatocyte growth factor blocks tubular epithelial to mesenchymal transition. 54 61
15537870 2005
9
Hepatocyte growth factor gene therapy and angiotensin II blockade synergistically attenuate renal interstitial fibrosis in mice. 54 61
12239235 2002
10
Hepatocyte growth factor suppresses interstitial fibrosis in a mouse model of obstructive nephropathy. 61 54
11260391 2001
11
MCP-1 and EGF renal expression and urine excretion in human congenital obstructive nephropathy. 54 61
10886563 2000
12
Obstructive nephropathy: lessons from cystic kidney disease. 54 61
10644902 2000
13
Increased expression of TGF-beta1 but not of its receptors contributes to human obstructive nephropathy. 54 61
10594789 1999
14
Urinary excretion of beta 2-glycoprotein-1 (apolipoprotein H) and other markers of tubular malfunction in "non-tubular" renal disease. 54 61
1381383 1992
15
Saroglitazar attenuates renal fibrosis induced by unilateral ureteral obstruction via inhibiting TGF-β/Smad signaling pathway. 61
32348836 2020
16
Serum-Targeted HILIC-MS Metabolomics-Based Analysis in Infants with Ureteropelvic Junction Obstruction. 61
32351114 2020
17
Utility of urinary organic anion transporter 5 as an early biomarker of obstructive nephropathy. 61
32497308 2020
18
Alteration of N6-methyladenosine epitranscriptome profile in unilateral ureteral obstructive nephropathy. 61
32543222 2020
19
The long noncoding RNA Ptprd-IR is a novel molecular target for TGF-β1-mediated nephritis. 61
32173520 2020
20
A novel role of LRP5 in tubulointerstitial fibrosis through activating TGF-β/Smad signaling. 61
32345960 2020
21
Dysregulated mesenchymal PDGFR-β drives kidney fibrosis. 61
31943786 2020
22
m6A-induced lncRNA MALAT1 aggravates renal fibrogenesis in obstructive nephropathy through the miR-145/FAK pathway. 61
32203053 2020
23
WNT1-inducible signaling protein-1 mediates TGF-β1-induced renal fibrosis in tubular epithelial cells and unilateral ureteral obstruction mouse models via autophagy. 61
31512238 2020
24
miR-130a-3p inhibition protects against renal fibrosis in vitro via the TGF-β1/Smad pathway by targeting SnoN. 61
31836508 2020
25
Effects of Heterozygous TfR1 (Transferrin Receptor 1) Deletion in Pathogenesis of Renal Fibrosis in Mice. 61
31838906 2020
26
Deletion of FHL2 in fibroblasts attenuates fibroblasts activation and kidney fibrosis via restraining TGF-β1-induced Wnt/β-catenin signaling. 61
31927599 2020
27
Mechanisms of antimicrobial-induced nephrotoxicity in children. 61
31369087 2020
28
Drp1-mediated mitochondrial fission promotes renal fibroblast activation and fibrogenesis. 61
31949126 2020
29
Neonatal obstructive nephropathy induces necroptosis and necroinflammation. 61
31819111 2019
30
A preventable cause of transplant hydroureteronephrosis: inguinal herniation of the transplant ureter: case report and review of the literature. 61
31690216 2019
31
Losartan accelerates the repair process of renal fibrosis in UUO mouse after the surgical recanalization by upregulating the expression of Tregs. 61
31401712 2019
32
Endothelial-specific deletion of Brahma-related gene 1 (BRG1) assuages unilateral ureteral obstruction induced renal injury in mice. 61
31349970 2019
33
Krt5+ urothelial cells are developmental and tissue repair progenitors in the kidney. 61
31322419 2019
34
Diuresis renography in equivocal urinary tract obstruction. A historical perspective. 61
31136948 2019
35
Petchiether A attenuates obstructive nephropathy by suppressing TGF-β/Smad3 and NF-κB signalling. 61
31211499 2019
36
IgG4-related kidney disease (IgG4-RKD) with membranous nephropathy as its initial manifestation: report of one case and literature review. 61
31311519 2019
37
Spectrum of chronic kidney disease in China: A national study based on hospitalized patients from 2010 to 2015. 61
30198082 2019
38
O bladder, where art thou? An unusual cause of obstructive nephropathy. 61
31085624 2019
39
Full age spectrum equation versus CKD-EPI and MDRD equations to estimate glomerular filtration rate in adults with obstructive nephropathy. 61
30991866 2019
40
Unilateral Ureteral Obstruction as a Model to Investigate Fibrosis-Attenuating Treatments. 61
30965656 2019
41
Effect of Quyu Chencuo Formula () on Renal Fibrosis in Obstructive Nephropathy Rats. 61
26142335 2019
42
Obstructive nephropathy: simple yet complicated! 61
30386975 2019
43
Symmetric nephromegaly. 61
30178235 2019
44
Blocking Tyr265 nitration of protein phosphatase 2A attenuates nitrosative stress-induced endothelial dysfunction in renal microvessels. 61
30521379 2019
45
Drug-induced Obstructive and Retrograde Nephropathy Associated with α2u-globulin in Male Rats. 61
30587097 2019
46
A Novel Biomarker for Acute Kidney Injury, Vanin-1, for Obstructive Nephropathy: A Prospective Cohort Pilot Study. 61
30791405 2019
47
Protease-activated receptor-1 contributes to renal injury and interstitial fibrosis during chronic obstructive nephropathy. 61
30485646 2019
48
Elevated urinary lipocalin-2, interleukin-6 and monocyte chemoattractant protein-1 levels in children with congenital ureteropelvic junction obstruction. 61
30420258 2019
49
Tyrphostin AG490 reduces inflammation and fibrosis in neonatal obstructive nephropathy. 61
31846485 2019
50
Renal Fibrosis, Immune Cell Infiltration and Changes of TRPC Channel Expression after Unilateral Ureteral Obstruction in Trpc6-/- Mice. 61
31099508 2019

Variations for Obstructive Nephropathy

Expression for Obstructive Nephropathy

Search GEO for disease gene expression data for Obstructive Nephropathy.

Pathways for Obstructive Nephropathy

Pathways related to Obstructive Nephropathy according to GeneCards Suite gene sharing:

(show all 36)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 TGFB1 SMAD3 SMAD2 SKIL PDGFD HGF
2
Show member pathways
12.81 TGFB1 SMAD3 SMAD2 PDGFD EGF
3 12.71 TGFB1 SMAD3 SMAD2 HGF EGF AGT
4
Show member pathways
12.69 TGFB1 SMAD3 SMAD2 HGF EGF
5
Show member pathways
12.61 TGFB1 PDGFD HGF GFER EGF
6
Show member pathways
12.49 TGFB1 REN PDGFD HGF GFER EGF
7
Show member pathways
12.41 TGFB1 SMAD3 SMAD2 PDGFD
8
Show member pathways
12.32 TGFB1 PDGFD HGF GFER EGF
9
Show member pathways
12.2 TGFB1 SMAD3 SMAD2 SKIL
10 12.15 TGFB1 SMAD3 SMAD2 SKIL
11 12.09 TGFB1 SMAD3 SMAD2 EGF
12 11.96 TGFB1 SMAD3 SMAD2 SKIL
13 11.95 TGFB1 HGF EGF ALB
14 11.83 TGFB1 SMAD3 SMAD2
15 11.8 TGFB1 SMAD3 SMAD2
16
Show member pathways
11.8 TGFB1 SMAD3 SMAD2
17
Show member pathways
11.78 TGFB1 SMAD3 SMAD2
18 11.78 TGFB1 SMAD3 SMAD2 AGT
19 11.77 TGFB1 REN HGF
20
Show member pathways
11.7 TGFB1 SMAD3 SMAD2
21 11.7 SMAD3 SMAD2 SKIL
22
Show member pathways
11.64 TGFB1 SMAD3 SMAD2
23 11.64 TGFB1 PDGFD HGF GFER EGF
24 11.63 REN AGT ACE
25 11.61 TGFB1 SMAD3 SMAD2 SKIL
26 11.6 TGFB1 SMAD3 EGF
27 11.59 TGFB1 SMAD3 SMAD2 SKIL
28
Show member pathways
11.49 TGFB1 SMAD3 SMAD2 EGF
29 11.47 TGFB1 SKIL HGF EGF
30
Show member pathways
11.46 TGFB1 REN AGTR2 AGT ACE
31 11.42 TGFB1 HGF EGF
32 11.33 TGFB1 SMAD3 SMAD2 SKIL
33 11.03 TGFB1 SMAD3 SMAD2 HGF
34 10.96 TGFB1 PDGFD HGF GFER EGF
35 10.89 TGFB1 SMAD3 SMAD2
36 10.78 TGFB1 SMAD3 SMAD2 SKIL EGF

GO Terms for Obstructive Nephropathy

Cellular components related to Obstructive Nephropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 TINAG TGFB1 REN PDGFD LCN2 HGF
2 blood microparticle GO:0072562 9.65 TGFB1 CLU AMBP ALB AGT
3 platelet alpha granule lumen GO:0031093 9.55 TGFB1 HGF EGF CLU ALB
4 extracellular region GO:0005576 9.47 VNN1 TINAG TGFB1 REN PDGFD LCN2
5 SMAD protein complex GO:0071141 9.37 SMAD3 SMAD2
6 heteromeric SMAD protein complex GO:0071144 9.32 SMAD3 SMAD2

Biological processes related to Obstructive Nephropathy according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.11 TGFB1 SMAD3 SMAD2 EGF AGTR2 AGT
2 positive regulation of cell proliferation GO:0008284 10.1 TGFB1 PDGFD EGF AGTR2 AGT
3 positive regulation of gene expression GO:0010628 10.06 TGFB1 SMAD3 SMAD2 LCN2 EGF CLU
4 positive regulation of cell migration GO:0030335 9.97 TGFB1 SMAD3 PDGFD HGF EGF
5 negative regulation of cell growth GO:0030308 9.91 TGFB1 SMAD3 AGTR2 AGT
6 kidney development GO:0001822 9.9 REN AGTR2 AGT ACE
7 wound healing GO:0042060 9.89 TGFB1 SMAD3 SMAD2
8 female pregnancy GO:0007565 9.88 TGFB1 AMBP AGT
9 transforming growth factor beta receptor signaling pathway GO:0007179 9.88 TGFB1 SMAD3 SMAD2 SKIL
10 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.87 PDGFD HGF AGT
11 liver development GO:0001889 9.87 SMAD3 HGF GFER
12 positive regulation of MAP kinase activity GO:0043406 9.85 TGFB1 PDGFD EGF
13 cellular response to transforming growth factor beta stimulus GO:0071560 9.84 TGFB1 SMAD3 PDGFD
14 SMAD protein signal transduction GO:0060395 9.84 TGFB1 SMAD3 SMAD2
15 positive regulation of fibroblast proliferation GO:0048146 9.82 TGFB1 PDGFD AGT
16 positive regulation of epithelial to mesenchymal transition GO:0010718 9.81 TGFB1 SMAD3 SMAD2
17 positive regulation of protein tyrosine kinase activity GO:0061098 9.8 EGF AGT ACE
18 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.8 TGFB1 HGF EGF AGT
19 blood vessel remodeling GO:0001974 9.78 AGTR2 AGT ACE
20 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.78 TGFB1 SMAD3 SMAD2 SKIL
21 endoderm development GO:0007492 9.77 TGFB1 SMAD3 SMAD2
22 regulation of blood pressure GO:0008217 9.73 REN AGTR2 AGT ACE
23 platelet degranulation GO:0002576 9.72 TGFB1 HGF EGF CLU ALB
24 negative regulation of immune response GO:0050777 9.71 TGFB1 AMBP
25 amyloid-beta metabolic process GO:0050435 9.71 REN ACE
26 positive regulation of renal sodium excretion GO:0035815 9.7 AGTR2 AGT
27 angiotensin maturation GO:0002003 9.69 REN ACE
28 response to cholesterol GO:0070723 9.69 TGFB1 SMAD2
29 regulation of transforming growth factor beta receptor signaling pathway GO:0017015 9.69 TGFB1 SMAD3 SMAD2
30 nodal signaling pathway GO:0038092 9.68 SMAD3 SMAD2
31 primary miRNA processing GO:0031053 9.68 SMAD3 SMAD2
32 pericardium development GO:0060039 9.68 SMAD3 SMAD2
33 embryonic foregut morphogenesis GO:0048617 9.68 SMAD3 SMAD2
34 regulation of protein import into nucleus GO:0042306 9.67 TGFB1 AGTR2
35 positive regulation of nitric oxide biosynthetic process GO:0045429 9.67 SMAD3 CLU AGTR2 AGT
36 regulation of striated muscle tissue development GO:0016202 9.66 TGFB1 SMAD3
37 regulation of systemic arterial blood pressure by renin-angiotensin GO:0003081 9.65 AGT ACE
38 common-partner SMAD protein phosphorylation GO:0007182 9.65 TGFB1 SMAD2
39 positive regulation of extracellular matrix assembly GO:1901203 9.64 TGFB1 SMAD3
40 negative regulation of neurotrophin TRK receptor signaling pathway GO:0051387 9.63 AGTR2 AGT
41 positive regulation of branching involved in ureteric bud morphogenesis GO:0090190 9.63 TGFB1 AGTR2 AGT
42 regulation of blood volume by renin-angiotensin GO:0002016 9.62 REN AGT
43 lens fiber cell differentiation GO:0070306 9.58 TGFB1 SMAD3 SKIL
44 paraxial mesoderm morphogenesis GO:0048340 9.56 SMAD3 SMAD2
45 ureteric bud development GO:0001657 9.56 TGFB1 SMAD3 SMAD2 ARG2
46 mononuclear cell proliferation GO:0032943 9.55 TGFB1 ACE
47 G protein-coupled receptor signaling pathway coupled to cGMP nucleotide second messenger GO:0007199 9.54 AGTR2 AGT
48 regulation of renal output by angiotensin GO:0002019 9.52 AGT ACE
49 SMAD protein complex assembly GO:0007183 9.33 TGFB1 SMAD3 SMAD2
50 regulation of binding GO:0051098 9.13 TGFB1 SMAD3 SMAD2

Molecular functions related to Obstructive Nephropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.5 SMAD3 SMAD2 SKIL
2 enhancer binding GO:0035326 9.46 SMAD3 SMAD2
3 co-SMAD binding GO:0070410 9.43 SMAD3 SMAD2
4 primary miRNA binding GO:0070878 9.4 SMAD3 SMAD2
5 type I transforming growth factor beta receptor binding GO:0034713 9.37 TGFB1 SMAD2
6 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 9.26 SMAD3 SMAD2
7 enterobactin binding GO:1903981 9.16 LCN2 ALB
8 transforming growth factor beta receptor binding GO:0005160 9.13 TGFB1 SMAD3 SMAD2
9 growth factor activity GO:0008083 9.1 TGFB1 PDGFD HGF GFER EGF AGT

Sources for Obstructive Nephropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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