VAD
MCID: KRT002
MIFTS: 52

Keratomalacia (VAD) malady

Categories: Rare diseases, Metabolic diseases, Eye diseases

Aliases & Classifications for Keratomalacia

Summaries for Keratomalacia

MedlinePlus : 41 vitamins are substances that your body needs to grow and develop normally. vitamin a plays a role in your vision bone growth reproduction cell functions immune system vitamin a is an antioxidant. it can come from plant or animal sources. plant sources include colorful fruits and vegetables. animal sources include liver and whole milk. vitamin a is also added to foods like cereals. vegetarians, young children, and alcoholics may need extra vitamin a. you might also need more if you have certain conditions, such as liver diseases, cystic fibrosis, and crohn's disease. check with your health care provider to see if you need to take vitamin a supplements. nih: national institutes of health office of dietary supplements

MalaCards based summary : Keratomalacia, also known as vitamin a deficiency, is related to night blindness and congenital stationary night blindness, and has symptoms including other specified visual disturbances, photophobia and amaurosis fugax. An important gene associated with Keratomalacia is RBP4 (Retinol Binding Protein 4), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Adipogenesis. The drugs Hydroxocobalamin and Iron have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and bone, and related phenotypes are reproductive system and vision/eye

Wikipedia : 71 Keratomalacia is an eye disorder that results from vitamin A deficiency. Vitamin A is required to... more...

Related Diseases for Keratomalacia

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

(show top 50) (show all 111)
id Related Disease Score Top Affiliating Genes
1 night blindness 12.5
2 congenital stationary night blindness 12.5
3 x-linked congenital stationary night blindness 12.5
4 night blindness, congenital stationary , 1a, x-linked 12.4
5 night blindness, congenital stationary , 1b, autosomal recessive 12.4
6 night blindness, congenital stationary , 1d, autosomal recessive 12.3
7 night blindness, congenital stationary, autosomal dominant 3 12.3
8 night blindness, congenital stationary, autosomal dominant 2 12.3
9 night blindness, congenital stationary , 1f, autosomal recessive 12.3
10 night blindness, congenital stationary , 1e, autosomal recessive 12.3
11 night blindness, congenital stationary, autosomal dominant 1 12.3
12 autosomal recessive congenital stationary night blindness 12.3
13 hereditary night blindness 12.3
14 night blindness, congenital stationary , 2a, x-linked 12.3
15 night blindness, congenital stationary , 1c, autosomal recessive 12.3
16 autosomal dominant congenital stationary night blindness 12.3
17 night blindness, congenital stationary, type 1g 12.3
18 hypercarotenemia and vitamin a deficiency, autosomal dominant 12.3
19 congenital stationary night blindness 1h 12.2
20 hereditary hypercarotenemia and vitamin a deficiency 12.1
21 acquired night blindness 12.1
22 congenital stationary night blindness, type 2b 12.0
23 night blindness skeletal anomalies unusual facies 12.0
24 cacna1f-related x-linked congenital stationary night blindness 11.9
25 nyx-related x-linked congenital stationary night blindness 11.9
26 night blindness-skeletal anomalies-dysmorphism syndrome 11.9
27 chondroectodermal dysplasia with night blindness 11.9
28 oguchi disease-1 11.7
29 oguchi disease-2 11.7
30 cone-rod synaptic disorder, congenital nonprogressive 11.6
31 retinal cone dystrophy 3 11.6
32 retinal cone dystrophy 3b 11.5
33 fundus albipunctatus 11.3
34 choroideremia 11.3
35 retinitis pigmentosa 11.3
36 refsum disease 11.1
37 melanoma-associated retinopathy 11.1
38 retinal degeneration, late-onset, autosomal dominant 11.0
39 cone-rod dystrophy 16 10.9
40 gyrate atrophy of choroid and retina with or without ornithinemia 10.9
41 bietti crystalline corneoretinal dystrophy 10.9
42 cone-rod dystrophy 10.9
43 birdshot chorioretinopathy 10.7
44 leber congenital amaurosis 2 10.7
45 enhanced s-cone syndrome 10.7
46 retinal degeneration autosomal recessive clumped pigment type 10.7
47 leber congenital amaurosis 8 10.7
48 bothnia retinal dystrophy 10.7
49 ataxia, posterior column, with retinitis pigmentosa 10.7
50 goldmann-favre syndrome 10.7

Graphical network of the top 20 diseases related to Keratomalacia:



Diseases related to Keratomalacia

Symptoms & Phenotypes for Keratomalacia

UMLS symptoms related to Keratomalacia:


other specified visual disturbances, photophobia, amaurosis fugax, subjective visual disturbance, unspecified, metamorphopsia, blurred vision, visual disturbance, visual manifestations

MGI Mouse Phenotypes related to Keratomalacia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 reproductive system MP:0005389 9.5 RBP4 CYP26A1 KALRN LRAT PAH RARA
2 vision/eye MP:0005391 9.17 LRAT PAH RARA RARB RBP4 RHO

Drugs & Therapeutics for Keratomalacia

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

(show top 50) (show all 501)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 4,Phase 2,Phase 3 13422-51-0 11953898 5460373 44475014
2
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7439-89-6 23925
3
Zinc Approved Phase 4,Phase 3,Early Phase 1 7440-66-6 32051 23994
4
Benzocaine Approved Phase 4,Phase 2,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
5
Dinoprostone Approved Phase 4 363-24-6 5280360
6
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
7
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
8
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
9
Emtricitabine Approved, Investigational Phase 4,Phase 3 143491-57-0 60877
10
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 2 155213-67-5 392622
11
Tenofovir Approved, Investigational Phase 4,Phase 3 147127-20-6 464205
12
Calcium carbonate Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 471-34-1
13
Copper Approved Phase 4,Phase 3,Phase 2 15158-11-9, 7440-50-8 27099
14 Zinc sulfate Approved Phase 4,Phase 3 7733-02-0
15
Glycerol Approved, Experimental Phase 4 56-81-5 753
16
Amlodipine Approved Phase 4,Phase 2,Phase 3 88150-42-9 2162
17
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
18
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 4,Phase 3 50-24-8 5755
20
Albendazole Approved, Vet_approved Phase 4 54965-21-8 2082
21
Altretamine Approved Phase 4 645-05-6 2123
22
Ezetimibe Approved Phase 4 163222-33-1 150311
23
Selenium Approved, Vet_approved Phase 4,Phase 3 7782-49-2
24
Zoledronic acid Approved Phase 4 118072-93-8 68740
25
Alendronate Approved Phase 4,Phase 3,Phase 2 121268-17-5, 66376-36-1 2088
26
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
27
Drospirenone Approved Phase 4 67392-87-4 68873
28
Estradiol Approved, Investigational, Vet_approved Phase 4,Early Phase 1 50-28-2 5757 53477783
29
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
30
Pamidronate Approved Phase 4 40391-99-9 4674
31
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
32
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
33
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
34
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
35
Enalaprilat Approved Phase 4 76420-72-9 6917719
36
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 2,Phase 3 68-19-9 44176380
37
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 59-30-3 6037
38
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 11103-57-4, 68-26-8 445354
39
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 67-97-0 6221 10883523 5280795
40
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-14-6 5280793
41
Thiamine Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 59-43-8 1130
42
Vitamin C Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-81-7 5785 54670067
43 tannic acid Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1
44
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 59-02-9 14985
45
Calcitriol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Early Phase 1 32222-06-3 134070 5280453
46
Menadione Approved, Nutraceutical Phase 4,Phase 3,Phase 2 58-27-5 4055
47
Phytonadione Approved, Nutraceutical Phase 4,Phase 3,Phase 2 84-80-0 4812 5284607
48
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Phase 1 58-05-9 54575, 6560146 143
49
Niacin Approved, Investigational, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 59-67-6 938
50
Nicotinamide Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1 98-92-0 936

Interventional clinical trials:

(show top 50) (show all 1089)
id Name Status NCT ID Phase
1 Vitamin Deficiencies and Suppletion in Morbid Obesity Unknown status NCT02270749 Phase 4
2 Characterization of Hyperparathyroidism and Vitamin D Deficiency in Obesity Unknown status NCT00288873 Phase 4
3 How Many Patients Are in Need of Vitamin B12 Injections? Unknown status NCT00326833 Phase 4
4 Preoperative Parenteral Thiamine Supplementation in Patients Undergoing Heart Surgery Unknown status NCT01524315 Phase 4
5 Nutrient Fortified Oat Drink Unknown status NCT01418898 Phase 4
6 Vitamin D and Inflammatory Markers of Cardiovascular Disease in African Americans With Type 2 Diabetes Unknown status NCT01153243 Phase 4
7 Optimizing Treatment Programs for Chronic Kidney Disease-mineral and Bone Disorder and Malnutrition Unknown status NCT02005302 Phase 4
8 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4
9 Oral Nutrition Impact on Tear Film Unknown status NCT01561040 Phase 4
10 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
11 Vitamin D and Inflammatory Cytokine Levels After Acute Myocardial Infraction (MI) Unknown status NCT01115842 Phase 4
12 The Effect of Vitamin D3 to Maintain Surgical Remission in Postoperative Crohn's Disease Unknown status NCT02010762 Phase 4
13 Vitamin D Augmentation of Tekturna (Aliskiren) in Hypertension Unknown status NCT01472796 Phase 4
14 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4
15 Anti-proteinuric Effect of Calcitriol in Non-diabetic Kidney Disease Patients Unknown status NCT01512862 Phase 4
16 Clinical Trial Technology Development for the Validation of Surrogate Prognostic Markers in Patients With Diabetic Nephropathy Unknown status NCT01673204 Phase 4
17 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4
18 Value Antiproteinuric Effects From Vitamin D Derivatives in Patient With Chronic Kidney Illness and the Lack of Vitamin D Unknown status NCT01442272 Phase 4
19 Effect of a Non-tenofovir, Non-efavirenz-based HIV Regimen on Bone Density and Vitamin D Levels in African-American Patients With HIV Infection Unknown status NCT01343225 Phase 4
20 Prevention of Renal Complications of Diabetes With Thiamine Unknown status NCT01725412 Phase 4
21 Adrenal Cortical Function and Vitamin A Deficiency in Sepsis Completed NCT03152474 Phase 4
22 Deworming and Enhanced Vitamin A Every 6 Month in Rural Indian Children Aged 1-6 Completed NCT00222547 Phase 4
23 Vitamin A and Very Low Birthweight Babies (VitAL) Completed NCT00417404 Phase 4
24 Treatment Study of Vitamin D Deficiency in Adolescents Completed NCT01784029 Phase 4
25 Influence of Vitamin D Treatment on Multi-systemic Functions in Young Men With Vitamin D Deficiency Due to Work Conditions Completed NCT01016184 Phase 4
26 How Much Vitamin D is Required to be Protective Against Deficiency During the Winter Months? Completed NCT01437696 Phase 4
27 The Role of Vitamin D in the Pathophysiology of Chronic Failure Completed NCT01993537 Phase 4
28 Vitamin Deficiency in Immigrants, a Treatment Study Completed NCT01419119 Phase 4
29 Effect of Oral Daily Supplementation With 400 IU Vs 200 IU of Vitamin D in Term Healthy Neonates Completed NCT02186028 Phase 4
30 Vitamin D Deficiency in Chronic Kidney Disease (CKD) Patients Completed NCT00958451 Phase 4
31 Vitamin D, Chronic Kidney Disease (CKD) and the Microcirculation Completed NCT00882401 Phase 4
32 Effects of Vitamin D Supplementation in Obesity Completed NCT01037140 Phase 4
33 Risk Factors for Vascular Calcifications in Hemodialysis Patients: to What Extent is Vitamin K2 Deficiency Involved? Completed NCT02876354 Phase 4
34 Styrian Vitamin D Hypertension Trial Completed NCT02136771 Phase 4
35 The Effects of Vitamin D on Transforming Growth Factor-beta1 in Polycystic Ovary Syndrome Completed NCT02460380 Phase 4
36 Postoperative Vitamin Supplementation in Morbidly Obese Patient (VITAAL Study) Completed NCT01609387 Phase 4
37 Immunologic Action of a Single Dose Cholecalciferol Completed NCT01845142 Phase 4
38 Vitamin D Repletion in Stone Formers With Hypercalciuria Completed NCT01295879 Phase 4
39 Efficacy of Calcifediol Supplementation in Asthma Control in Asthmatic Patients With Vitamin D Deficiency (ACViD) Completed NCT02805907 Phase 4
40 Vitamin D Supplementation of Lactating Mothers Completed NCT01506557 Phase 4
41 Vitamin D Repletion in Primary Hyperparathyroidism Completed NCT01306656 Phase 4
42 Vitamin D Supplementation in Patients With Diabetes Mellitus Type 2 Completed NCT01741181 Phase 4
43 The Effect of Calcium and Vitamin D in Patients With Heart Failure Completed NCT00497900 Phase 4
44 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4
45 Efficacy of Daily Vitamin D3 Supplementation in Normal Weight Adolescents Completed NCT01058720 Phase 4
46 Dosage Calculation for Vitamin D Treatment Completed NCT02186106 Phase 4
47 Treatment of Vitamin D Insufficiency Completed NCT00933244 Phase 4
48 Vitamin B12 Acceptance and Biomarker Response Study Completed NCT01832129 Phase 4
49 Vitamin D in Pregnancy and Lactation Completed NCT01112891 Phase 4
50 Vitamin D in Pediatric Crohn's Disease Completed NCT01187459 Phase 4

Search NIH Clinical Center for Keratomalacia

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: keratomalacia

Genetic Tests for Keratomalacia

Anatomical Context for Keratomalacia

MalaCards organs/tissues related to Keratomalacia:

39
Eye, Liver, Bone, Skin, Pancreas

Publications for Keratomalacia

Articles related to Keratomalacia:

(show top 50) (show all 62)
id Title Authors Year
1
Keratomalacia in a Patient With Psychogenic Vitamin A Deficiency. ( 26785304 )
2016
2
Severe keratomalacia after 12 months of continuous hydrogel contact lens wear in a psychiatric patient. ( 25467290 )
2015
3
Porcine urinary bladder extracellular matrix grafts (ACell Vet(Ar) Corneal Discs) for keratomalacia in 17 equids (2012-2013). ( 25429917 )
2014
4
Xerophthalmia and keratomalacia secondary to diet-induced vitamin A deficiency in Scottish adults. ( 24513368 )
2014
5
Sociodemographic features and risk factor profile of keratomalacia in early infancy. ( 22406941 )
2012
6
360-degree conjunctival grafting for management of diffuse keratomalacia in a dog. ( 21521447 )
2011
7
Ciliary hypertrichosis in a child with keratomalacia. ( 21092399 )
2010
8
Keratomalacia caused by psychiatric-induced dietary restrictions. ( 17721303 )
2007
9
Use of amniotic membrane graft and corneal transplantation in a patient with bilateral keratomalacia induced by uncontrolled phenylketonuria. ( 17525666 )
2007
10
Keratomalacia in a neonate secondary to maternal vitamin A deficiency. ( 16272665 )
2005
11
Advanced keratomalacia with descemetocele in an infant with cystic fibrosis. ( 16009849 )
2005
12
Equine amniotic membrane transplantation for corneal ulceration and keratomalacia in three horses. ( 16178841 )
2005
13
Inflammatory stromal keratopathies: medical management of stromal keratomalacia, stromal abscesses, eosinophilic keratitis, and band keratopathy in the horse. ( 15271427 )
2004
14
Keratoplasty for keratomalacia in preschool children. ( 12714386 )
2003
15
Keratomalacia and scurvy in a severely malnourished infant. ( 11860588 )
2002
16
Bilateral keratomalacia in a cachectic scleroderma patient. ( 10692938 )
1999
17
Keratomalacia in northern Afghanistan. ( 17492034 )
1998
18
A new classification system predicting keratomalacia after trauma in vitamin A deficiency: sodium citrate does not prevent disease progression. ( 9220247 )
1997
19
Bilateral severe keratomalacia after acute pancreatitis. ( 8500326 )
1993
20
Xerophthalmia, keratomalacia and nutritional blindness. ( 2188921 )
1990
21
Keratomalacia in a child with familial hypo-retinol-binding proteinemia. ( 3148050 )
1988
22
Keratomalacia in Soyal fed infants. ( 3448023 )
1987
23
Keratomalacia in Soyal fed infants. ( 3692597 )
1987
24
Keratomalacia on a 'healthy diet'. ( 3516209 )
1986
25
Vitamin A to prevent keratomalacia. ( 6149410 )
1984
26
Nutritional factors in corneal xerophthalmia and keratomalacia. ( 7065955 )
1982
27
Corneal xerophthalmia and keratomalacia. ( 7065956 )
1982
28
Corneal xerophthalmia and keratomalacia. ( 7150067 )
1982
29
Keratomalacia in acrodermatitis enteropathica (AE). ( 6796792 )
1981
30
A case of total keratomalacia due to soft contact lens wearing. ( 7013624 )
1980
31
Role of vitamin A deficiency and protein-calorie malnutrition in keratomalacia and Bitot's spots (A clinicopathologic study). ( 120319 )
1979
32
Management of keratomalacia. ( 670739 )
1978
33
Keratomalacia in the cachectic hospitalized patient. ( 986773 )
1976
34
Mass distribution of vitamin A and the prevention of keratomalacia. ( 1200101 )
1975
35
Keratomalacia. ( 1081744 )
1975
36
Therapeutic penetrating keratoplasty in keratomalacia. ( 4585797 )
1973
37
Clinical aspects of keratomalacia. ( 4630594 )
1972
38
Surgical treatment of active keratomalacia by "covering graft". ( 4567293 )
1972
39
Clinical aspects of keratomalacia. ( 4630593 )
1972
40
Keratomalacia in Haiti. ( 4647770 )
1972
41
Keratomalacia and intestinal helminthiasis. ( 4644282 )
1972
42
Clinical aspects of keratomalacia. ( 4647768 )
1972
43
Serum proteins in kwashiorkor and marasmus. 4. Cases with or without keratomalacia. ( 5401879 )
1969
44
Necrotizing keratitis (keratomalacia) with corneal perforation and expulsive uveal hemorrhage in a new-born. ( 5755680 )
1968
45
The evolution of keratomalacia. ( 5255226 )
1967
46
Xerophthalmia (keratomalacia) in Singapore--a study. ( 5587801 )
1967
47
Keratomalacia: a review of its relationship to xerophthalmia and its response to treatment. ( 6037438 )
1967
48
The influence of protein on keratomalacia. I. Dietary condition of keratomalacia cases. ( 5914701 )
1966
49
Intestinal infections and ocular lesions with particular reference to Keratomalacia. ( 5912095 )
1966
50
The influence of protein on keratomalacia. II. Experimental observation in albino rats. ( 5975752 )
1966

Variations for Keratomalacia

Expression for Keratomalacia

Search GEO for disease gene expression data for Keratomalacia.

Pathways for Keratomalacia

GO Terms for Keratomalacia

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.28 DNASE1L1 KALRN PAH PCK2 QDPR RARS

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.69 LRAT RBP4 RHO
2 outflow tract septum morphogenesis GO:0003148 9.49 RARA RARB
3 retinoic acid receptor signaling pathway GO:0048384 9.48 RARA RARB
4 retinoic acid metabolic process GO:0042573 9.46 CYP26A1 LRAT
5 regulation of myelination GO:0031641 9.43 RARA RARB
6 L-phenylalanine catabolic process GO:0006559 9.4 PAH QDPR
7 negative regulation of cartilage development GO:0061037 9.37 RARA RARB
8 growth plate cartilage development GO:0003417 9.32 RARA RARB
9 ventricular cardiac muscle cell differentiation GO:0055012 9.26 RARA RARB
10 glandular epithelial cell development GO:0002068 9.16 RARA RARB
11 retinol metabolic process GO:0042572 9.13 LRAT RBP4 TTR
12 retinoid metabolic process GO:0001523 8.92 LRAT RBP4 RHO TTR

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

id Name GO ID Score Top Affiliating Genes
1 retinol binding GO:0019841 9.16 LRAT RBP4
2 retinoic acid receptor activity GO:0003708 8.96 RARA RARB
3 retinoic acid binding GO:0001972 8.8 CYP26A1 LRAT RARA

Sources for Keratomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
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54 OMIM
55 OMIM via Orphanet
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60 QIAGEN
65 SNOMED-CT via Orphanet
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68 Tocris
69 UMLS
70 UMLS via Orphanet
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