MCID: CLC001
MIFTS: 51

Calciphylaxis

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Calciphylaxis

MalaCards integrated aliases for Calciphylaxis:

Name: Calciphylaxis 12 74 52 58 43 15 71
Idiopathic Calciphylaxis 52

Characteristics:

Orphanet epidemiological data:

58
calciphylaxis
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adult; Age of death: adult;

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 12 DOID:4734
MeSH 43 D002115
NCIt 49 C84607
SNOMED-CT 67 237900002
ICD10 via Orphanet 33 E83.5
UMLS via Orphanet 72 C0006666
Orphanet 58 ORPHA280062
UMLS 71 C0006666

Summaries for Calciphylaxis

NIH Rare Diseases : 52 Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs . The lack of blood flow (ischemia ) damages healthy tissue and causes it to die (necrosis ). The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can develop and become infected easily. Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle , causing infections, pain, and organ failure. These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more than a few months after they are diagnosed due to infection that spreads throughout the body (sepsis ), or organ failure. The exact cause of calciphylaxis is unknown. Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.

MalaCards based summary : Calciphylaxis, also known as idiopathic calciphylaxis, is related to end stage renal disease and fournier gangrene. An important gene associated with Calciphylaxis is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Ca, cAMP and Lipid Signaling and Endochondral Ossification. The drugs Capsaicin and Phylloquinone have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and bone, and related phenotypes are skin ulcer and gangrene

Wikipedia : 74 Calciphylaxis, also known as calcific uremic arteriolopathy (CUA) or “Grey Scale”, is a rare painful... more...

Related Diseases for Calciphylaxis

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

(show top 50) (show all 372)
# Related Disease Score Top Affiliating Genes
1 end stage renal disease 31.3 PTH FGF23 EPO ALB
2 fournier gangrene 30.7 CD40LG ALB
3 hyperparathyroidism 30.5 VDR PTH FGF23 EPO CASR ALB
4 nephrogenic systemic fibrosis 30.5 SPP1 EPO
5 arteriolosclerosis 30.4 CD79A ALB
6 polyneuropathy 30.4 EPO CD40LG ALB
7 secondary hyperparathyroidism 30.3 VDR PTH FGF23 EPO CASR ALB
8 parathyroid adenoma 30.3 VDR PTH CASR
9 metabolic acidosis 30.3 PTH FGF23 ALB
10 primary hyperparathyroidism 30.2 VDR PTH FGF23 CASR ALB
11 vitamin k deficiency bleeding 30.1 PTH MGP
12 osteitis fibrosa 30.1 PTH FGF23 CASR
13 cryofibrinogenemia 29.9 FN1 CD79A CD40LG
14 plasma cell neoplasm 29.8 CD79A CD40LG ALB
15 iga glomerulonephritis 29.8 CD79A CD40LG ALB
16 connective tissue disease 29.8 SPP1 PTH CD40LG ALB
17 hypoparathyroidism 29.7 VDR PTH FGF23 CASR
18 skin disease 29.5 VDR CD79A CD40LG ALB
19 peripheral nervous system disease 29.5 FN1 EPO CD40LG ALB
20 acquired immunodeficiency syndrome 29.5 EPO CD79A CD40LG ALB
21 calcinosis 29.5 SPP1 MGP FGF23 AHSG
22 renal osteodystrophy 29.4 VDR PTH FGF23 EPO CASR
23 congestive heart failure 29.4 FN1 EPO ALB
24 rickets 29.2 VDR SPP1 PTH FGF23 CASR ALB
25 hypocalcemia, autosomal dominant 1 29.2 VDR PTH FGF23 CASR ALB
26 nephrocalcinosis 29.2 SPP1 PTH FGF23 CASR ALB
27 hypophosphatemia 29.1 VDR SPP1 PTH FGF23 ALB
28 bone disease 29.1 VDR SPP1 PTH FGF23 EPO CASR
29 glomerulonephritis 29.0 SPP1 FN1 CD79A CD40LG ALB
30 hyperphosphatemia 29.0 VDR SPP1 PTH MGP FGF23 CASR
31 urolithiasis 28.9 VDR SPP1 CASR ALB AHSG
32 autoimmune disease 28.9 VDR SPP1 CD79A CD40LG
33 bone resorption disease 28.6 VDR SPP1 PTH FGF23 CASR ALB
34 vascular disease 28.5 SPP1 PTH MGP FN1 EPO CD40LG
35 myeloma, multiple 28.4 SPP1 PTH FN1 EPO CD79A CD40LG
36 arterial calcification of infancy 28.1 SPP1 NT5E MGP FGF23 AHSG
37 uremia 27.6 VDR SPP1 PTH MGP EPO CASR
38 chronic kidney disease 27.5 VDR SPP1 PTH MGP FN1 FGF23
39 diabetes mellitus 27.4 VDR SPP1 PTH FGF23 EPO CD40LG
40 kidney disease 27.1 VDR SPP1 PTH MGP FN1 FGF23
41 mineral metabolism disease 27.0 VDR SPP1 PTH MGP FGF23 CASR
42 nephrolithiasis 26.7 VDR SPP1 PTH MGP FN1 FGF23
43 osteoporosis 26.6 VDR SPP1 PTH MGP FGF23 CD40LG
44 visceral calciphylaxis 12.4
45 calciphylaxis cutis 12.3
46 vasculitis 10.5
47 ankylosing spondylitis 1 10.5 FGF23 ALB
48 cork-handlers' disease 10.4 CD40LG ALB
49 hypertensive encephalopathy 10.4 EPO ALB
50 panniculitis 10.4

Graphical network of the top 20 diseases related to Calciphylaxis:



Diseases related to Calciphylaxis

Symptoms & Phenotypes for Calciphylaxis

Human phenotypes related to Calciphylaxis:

58 31 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin ulcer 58 31 hallmark (90%) Very frequent (99-80%) HP:0200042
2 gangrene 58 31 hallmark (90%) Very frequent (99-80%) HP:0100758
3 cellulitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100658
4 sepsis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100806
5 cutis marmorata 58 31 hallmark (90%) Very frequent (99-80%) HP:0000965
6 hyperphosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002905
7 stage 5 chronic kidney disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0003774
8 abnormality of skin physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0011122
9 secondary hyperparathyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000867
10 arterial calcification 58 31 hallmark (90%) Very frequent (99-80%) HP:0003207
11 ectopic ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0011986
12 abnormality of metabolism/homeostasis 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Calciphylaxis:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.21 ALB CD40LG EPO FGF23 FN1 MGP
2 homeostasis/metabolism MP:0005376 10.21 AHSG ALB CASR CD40LG CD79A EPO
3 cellular MP:0005384 10.19 ALB CASR CD40LG CD79A EPO FN1
4 hematopoietic system MP:0005397 10.16 CASR CD40LG CD79A EPO FGF23 FN1
5 growth/size/body region MP:0005378 10.13 AHSG CASR FGF23 FN1 MGP NT5E
6 immune system MP:0005387 10.1 ALB CASR CD40LG CD79A EPO FGF23
7 mortality/aging MP:0010768 10 ALB CASR CD40LG CD79A EPO FGF23
8 integument MP:0010771 9.97 CASR CD40LG EPO FGF23 FN1 NT5E
9 limbs/digits/tail MP:0005371 9.8 AHSG EPO FGF23 FN1 PTH VDR
10 muscle MP:0005369 9.76 AHSG ALB CASR EPO FN1 MGP
11 renal/urinary system MP:0005367 9.61 ALB CASR CD40LG CD79A FGF23 MGP
12 skeleton MP:0005390 9.32 AHSG CASR CD40LG EPO FGF23 FN1

Drugs & Therapeutics for Calciphylaxis

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Capsaicin Approved Phase 4 404-86-4 1548943
2
Phylloquinone Approved, Investigational Phase 4 84-80-0
3
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
4 Menaquinone Investigational Phase 4 1182-68-9
5 Dermatologic Agents Phase 4
6 Trace Elements Phase 4
7 Micronutrients Phase 4
8 Vitamins Phase 4
9 Hemostatics Phase 4
10 Nutrients Phase 4
11 Vitamin K Phase 4
12 naphthoquinone Phase 4
13 Coagulants Phase 4
14 Antifibrinolytic Agents Phase 4
15 Vitamin K 2 Phase 4
16 Vitamin K 1 Phase 3
17 Calcium, Dietary Phase 3
18 Pharmaceutical Solutions Phase 3
19
Calcium Nutraceutical Phase 3 7440-70-2 271
20
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
21
Lidocaine Approved, Vet_approved Phase 2 137-58-6 3676
22
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
23
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
24 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
25
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
26
Prednisolone hemisuccinate Experimental Phase 2 2920-86-7
27 Methylprednisolone Acetate Phase 2
28
Warfarin Approved 81-81-2 6691 54678486
29
Cisplatin Approved 15663-27-1 2767 441203 84093
30
carbamide peroxide Approved 124-43-6
31 Anesthetics

Interventional clinical trials:

(show all 24)
# Name Status NCT ID Phase Drugs
1 The Role of Qutenza (Topical Capsaicin 8%) in Treating Neuropathic Pain From Critical Ischaemia in Patients With End-stage Renal Failure Unknown status NCT01704339 Phase 4 QUTENZA
2 Risk Factors for Vascular Calcifications in Hemodialysis Patients: to What Extent is Vitamin K2 Deficiency Involved? Completed NCT02876354 Phase 4 Menaquinone
3 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy and Safety of SNF472 When Added to Background Care for the Treatment of Calciphylaxis Recruiting NCT04195906 Phase 3 Experimental: SNF472;Placebo Comparator: Placebo;Experimatenl SNF472 (Open-label)
4 Vitamin K1 to Slow Progression of Vascular Calcification in Hemodialysis Patients Active, not recruiting NCT01742273 Phase 3 Vitamin K1
5 A Phase 3, Intravenous Sodium Thiosulfate for Acute Calciphylaxis Treatment: A Multicenter, Randomized, Double-blind, Placebo-controlled, Clinical Trial Terminated NCT03150420 Phase 3 Sodium Thiosulfate;Placebo-Normal Saline
6 Randomized Double Blind Placebo Controlled Trial of Sodium Thiosulfate for the Treatment of Pain Associated With Calcific Uremic Arteriolopathy Followed by a Single Armed Extension Phase to Prospectively Observe Lesion Progression in the Presence of Sodium Thiosulfate Treatment Terminated NCT02527213 Phase 3 Sodium thiosulfate;Placebo
7 Phase 2 Open Label Single Arm Repeat Dose Study to Assess the Effect of SNF472 on Wound Healing in Uraemic Calciphylaxis Patients Completed NCT02790073 Phase 2 SNF472
8 Efficacy and Tolerance of Sodium Thiosulfate Injection After Ultrasound-guided Percutaneous Irrigation of Calcific Tendinopathy of the Rotator Cuff Completed NCT02538939 Phase 2 Sodium thiosulfate
9 Novel Drug Delivery of Sodium Thiosulfate for Calcinosis Associated With Adult and Juvenile Dermatomyositis Completed NCT01572844 Phase 2 Sodium thiosulfate
10 Efficacy of Sodium Thiosulfate in Shoulder Pain in Calcific Tendinitis of the Rotator Cuff Recruiting NCT04251832 Phase 2 Sodium Thiosulfate
11 A Pilot Study to Evaluate Topical Sodium Thiosulfate Therapy for Calcinosis Cutis (STS-CALC) Withdrawn NCT01918904 Phase 2 Sodium thiosulfate;Placebo
12 A Randomized, Open Label, Four Week, Pharmacodynamic/Pharmacokinetic, Efficacy, and Safety Study of Lunacalcipol (CTA018) Injection in Subjects With Stage 5 Chronic Kidney Disease With Secondary Hyperparathyroidism on Hemodialysis Withdrawn NCT01453634 Phase 2 Lunacalcipol 180;Lunicalcipol 270
13 Evaluation of Efficacy of Lanthanum Carbonate (Fosrenol) in Patients With Calciphylaxis Completed NCT01289626 Phase 1 lanthanum carbonate;Lanthanum for calciphylaxis
14 Evaluation of Thiosulfate in End Stage Renal Disease and Kidney Transplantation Not yet recruiting NCT04292184 Phase 1 Seacalphyx (sodium thiosulfate pentahydrate injection BP) 25%
15 National Follow-up of Dialysis Patients With Sodium Thiosufate-treated Calciphylaxis Under Temporary Use Authorization Unknown status NCT03146793 Sodium Thiosulfate
16 Calciphylaxis : Population, Risk Factors, Diagnostic Practice, Therapeutic and Outcome : a Multicentric, Retrospective Cohort Unknown status NCT02854046
17 Pathophysiology of Martorell Hypertensive Ischemic Leg Ulcer (HYTILU): A Comparison of Martorell HYTILU, Calciphylaxis and Venous Ulcer (Control) Unknown status NCT01578382
18 Evaluation of Vitamin K Supplementation for Calcific Uremic Arteriolopathy Completed NCT02278692
19 Partners Calciphylaxis Biobank and Patient Registry Recruiting NCT03032835
20 European Calciphylaxis Registry Network Recruiting NCT02635373
21 Impact of Parathyroidectomy on Vascular Calcification and Clinical Outcome in Hemodialysis Patients Recruiting NCT03724188
22 Observational Follow-up to ST-001 Calciphylaxis Pain Treatment With Intravenous Sodium Thiosulfate Terminated NCT03319914
23 A Pilot, Randomized, Self-controlled Study of the Effects of Intratympanic Sodium Thiosulfate on the Degree of Hearing Loss in Patients Receiving Cisplatin Therapy Terminated NCT01369641 Sodium Thiosulfate (STS);Cisplatin
24 Modulation of Gut Microbiota in End-stage Renal Disease: A Pilot Study Withdrawn NCT02568891

Search NIH Clinical Center for Calciphylaxis

Cochrane evidence based reviews: calciphylaxis

Genetic Tests for Calciphylaxis

Anatomical Context for Calciphylaxis

MalaCards organs/tissues related to Calciphylaxis:

40
Skin, Kidney, Bone, Skeletal Muscle, Breast, Liver, Heart

Publications for Calciphylaxis

Articles related to Calciphylaxis:

(show top 50) (show all 1252)
# Title Authors PMID Year
1
Calciphylaxis in a renal transplant patient. 61
31650980 2020
2
Nonuremic Calciphylaxis. 61
32453301 2020
3
Mechanism of action of SNF472, a novel calcification inhibitor to treat vascular calcification and calciphylaxis. 61
32557649 2020
4
Diagnosing Calciphylaxis: A series of cases with both imaging and tissue biopsy. 61
32526323 2020
5
Penile Calciphylaxis. 61
32194088 2020
6
Penile necrosis by calciphylaxis leading to gangrene in a patient with chronic renal failure on dialysis: A case report. 61
32470914 2020
7
Mimicry of surgical site infection - Case report. 61
32544831 2020
8
Penile calciphylaxis: A retrospective case-control study. 61
32422224 2020
9
Multidisciplinary management of calciphylaxis: a series of 5 patients at a single facility. 61
31849003 2020
10
The role of skin biopsy in diagnosis and management of calciphylaxis: a retrospective analysis. 61
32479980 2020
11
Calciphylaxis in the Setting of Hemodialysis, Liver Cirrhosis, and Warfarin Therapy for Atrial Fibrillation: An Argument for Alternative Anti-Embolic Therapy. 61
32528755 2020
12
Calciphylaxis: looking for clues beyond skin biopsy. 61
32128713 2020
13
Pain reduction by dehydrated human amnion/chorion membrane allograft in nondiabetic leg ulcers might be an early indicator of good response: A case series. 61
32410269 2020
14
Rheopheresis: A new therapeutic approach in severe calciphylaxis. 61
31576630 2020
15
Nonuraemic cutaneous calciphylaxis: our experience with a challenging disease. 61
32304580 2020
16
Calciphylaxis: when a bird is not a duck. 61
31757402 2020
17
Calciphylaxis: Continues to surprise. 61
31486258 2020
18
Diagnoses of hospitalized patients with skin abnormalities prompting biopsy by consulting dermatologists: A 3-year review from a tertiary care center. 61
31845375 2020
19
Partial Penectomy for Dry Penile Gangrene in a Patient With Penile Calciphylaxis. 61
32348804 2020
20
Sodium-Thiosulfate Induced Life-Threatening Metabolic Acidosis Limiting Treatment of Calciphylaxis. 61
32336746 2020
21
Nonuremic calciphylaxis in a patient with multiple myeloma and rheumatoid arthritis. 61
32394936 2020
22
Epidemiology and Treatment of Calcinosis Cutis: 13 Years of Experience. 61
32180595 2020
23
A 52-Year-Old Female with Multiple Swellings in Both Hands: Idiopathic Calcinosis Cutis. 61
32351849 2020
24
Ischemia of the Penis and Fingertips Secondary to Calcifying Uremic Arteriolopathy. 61
32351859 2020
25
The association of iron overload and development of calciphylaxis. 61
31255363 2020
26
Calciphylaxis of the fingers. 61
32161700 2020
27
An unusual presentation of calciphylaxis. 61
32352446 2020
28
Penile Calciphylaxis: A Rare Case of Penile Lesion. 61
32269445 2020
29
Differential diagnosis of calciphylaxis in chronic dialysis patients. 61
32008200 2020
30
Penile calciphylaxis: a conservative approach. 61
31530167 2020
31
Calciphylaxis epidemiology, risk factors, treatment and survival among French chronic kidney disease patients: a case-control study. 61
32101140 2020
32
Calciphylaxis resulting in acute coronary syndrome through calcified nodule formation. 61
32060495 2020
33
Hyperbaric oxygen therapy in patients suffering from wounds in calciphylaxis: a narrative review. 61
32176952 2020
34
Calciphylaxis in Association with Alcoholic Cirrhosis and Hepatorenal Syndrome. 61
32167457 2020
35
Dermatoscopy in life-threatening and severe acute rashes. 61
32197741 2020
36
Common and critical inflammatory dermatoses every pathologist should know. 61
31676787 2020
37
The first case of coexistence of calciphylaxis and nephrogenic systemic fibrosis with different localizations in a hemodialysis patient. 61
31182286 2020
38
Calciphylaxis: An Analysis of Concomitant Factors, Treatment Effectiveness and Prognosis in 30 Patients. 61
32308465 2020
39
Diffuse dermal angiomatosis associated with calciphylaxis: A 5-year retrospective institutional review. 61
31589777 2020
40
A Case of Early Calciphylaxis Diagnosed by Bone Scan. 61
32256605 2020
41
Nonuremic calciphylaxis triggered by rapid weight loss and hypotension. 61
32074157 2020
42
Calciphylaxis in a Patient on Home Hemodialysis. 61
32434389 2020
43
[AT THE BOTTOM OF THE ULCER - THE IMPORTANCE OF A BIOPSY IN DIAGNOSING HARD TO TREAT ULCERS]. 61
31930802 2020
44
Calciphylaxis: Challenges in the diagnosis and management. 61
31879659 2019
45
The Australian Calciphylaxis Registry: reporting clinical features and outcomes of patients with calciphylaxis. 61
31855262 2019
46
Calciphylaxis: A Deceiving Cellulitis. 61
32025437 2019
47
Penile gangrene due to calciphylaxis: a multidisciplinary approach to a complex clinical challenge. 61
31811092 2019
48
Hybrid image (SPECT/CT) in the early diagnosis of a patient with calciphylaxis. 61
31892485 2019
49
A persistent penile ulcer in end stage renal disease: It is not always calciphylaxis. 61
31050098 2019
50
On the role of skin biopsy in the diagnosis of calcific uremic arteriolopathy: a case-based discussion. 61
31792896 2019

Variations for Calciphylaxis

Expression for Calciphylaxis

Search GEO for disease gene expression data for Calciphylaxis.

Pathways for Calciphylaxis

GO Terms for Calciphylaxis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 SPP1 PTH FN1 FGF23 EPO CD40LG
2 extracellular region GO:0005576 9.61 SPP1 PTH MGP FN1 FGF23 EPO
3 blood microparticle GO:0072562 9.5 FN1 ALB AHSG
4 platelet alpha granule lumen GO:0031093 9.43 FN1 ALB AHSG
5 endoplasmic reticulum lumen GO:0005788 9.02 SPP1 FN1 FGF23 ALB AHSG

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.72 VDR PTH AHSG
2 platelet degranulation GO:0002576 9.69 FN1 ALB AHSG
3 cellular calcium ion homeostasis GO:0006874 9.65 VDR PTH CASR
4 post-translational protein modification GO:0043687 9.65 SPP1 FN1 FGF23 ALB AHSG
5 response to vitamin D GO:0033280 9.54 SPP1 PTH
6 negative regulation of bone mineralization GO:0030502 9.52 FGF23 AHSG
7 acute-phase response GO:0006953 9.5 FN1 EPO AHSG
8 cellular response to vitamin D GO:0071305 9.49 FGF23 CASR
9 vitamin D metabolic process GO:0042359 9.46 VDR FGF23
10 response to fibroblast growth factor GO:0071774 9.43 PTH CASR
11 phosphate ion homeostasis GO:0055062 9.4 PTH FGF23
12 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.37 VDR FGF23
13 regulation of bone mineralization GO:0030500 9.33 MGP FGF23 AHSG
14 ossification GO:0001503 9.26 SPP1 MGP CASR AHSG
15 cellular protein metabolic process GO:0044267 9.02 SPP1 FN1 FGF23 ALB AHSG

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.92 SPP1 FN1 CD40LG CASR

Sources for Calciphylaxis

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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