VAD
MCID: KRT002
MIFTS: 56

Keratomalacia (VAD)

Categories: Eye diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Keratomalacia

Summaries for Keratomalacia

MedlinePlus : 43 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 xerophthalmia and hypercarotenemia and vitamin a deficiency, autosomal dominant, and has symptoms including photophobia, amaurosis fugax and metamorphopsia. An important gene associated with Keratomalacia is RHO (Rhodopsin), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. The drugs Methylprednisolone and Epinephrine have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and liver, and related phenotype is homeostasis/metabolism.

Wikipedia : 76 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 456)
# Related Disease Score Top Affiliating Genes
1 xerophthalmia 30.8 DNASE1L1 RHO
2 hypercarotenemia and vitamin a deficiency, autosomal dominant 30.2 RBP4 TTR
3 marasmus 29.9 TF TTR
4 kwashiorkor 29.9 TF TTR
5 phenylketonuria 29.5 PAH QDPR TTR
6 protein-energy malnutrition 29.5 TF TTR
7 hypervitaminosis a 29.4 RBP4 TTR
8 nutritional deficiency disease 28.8 TF TTR
9 kidney disease 28.3 RBP4 TF TTR
10 congenital stationary night blindness 12.8
11 night blindness, congenital stationary, type 1a 12.8
12 night blindness 12.8
13 night blindness, congenital stationary, type 1b 12.8
14 x-linked congenital stationary night blindness 12.8
15 night blindness, congenital stationary, type 2a 12.7
16 night blindness, congenital stationary, autosomal dominant 2 12.7
17 night blindness, congenital stationary, type 1d 12.6
18 night blindness, congenital stationary, type 1f 12.6
19 night blindness, congenital stationary, type 1e 12.6
20 night blindness, congenital stationary, autosomal dominant 3 12.6
21 night blindness, congenital stationary, autosomal dominant 1 12.6
22 night blindness, congenital stationary, type 1h 12.6
23 autosomal recessive congenital stationary night blindness 12.6
24 night blindness, congenital stationary, type 1c 12.6
25 autosomal dominant congenital stationary night blindness 12.6
26 night blindness, congenital stationary, type 1g 12.6
27 night blindness-skeletal anomalies-dysmorphism syndrome 12.4
28 hereditary hypercarotenemia and vitamin a deficiency 12.4
29 acquired night blindness 12.3
30 oguchi disease 12.3
31 hypercarotenemia and vitamin a deficiency, autosomal recessive 12.2
32 oguchi disease 1 12.2
33 chondroectodermal dysplasia with night blindness 12.2
34 vitamin a embryopathy 12.2
35 cone-rod synaptic disorder, congenital nonprogressive 12.1
36 oguchi disease 2 12.0
37 retinal cone dystrophy 3a 11.9
38 retinal cone dystrophy 3b 11.9
39 fundus albipunctatus 11.6
40 choroideremia 11.6
41 retinitis pigmentosa 11.5
42 refsum disease, classic 11.3
43 melanoma-associated retinopathy 11.3
44 late-onset retinal degeneration 11.2
45 pagod syndrome 11.2
46 microphthalmia 11.2
47 bietti crystalline corneoretinal dystrophy 11.1
48 gyrate atrophy of choroid and retina 11.1
49 enhanced s-cone syndrome 11.1
50 cone-rod dystrophy 16 11.1

Graphical network of the top 20 diseases related to Keratomalacia:



Diseases related to Keratomalacia

Symptoms & Phenotypes for Keratomalacia

UMLS symptoms related to Keratomalacia:


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

MGI Mouse Phenotypes related to Keratomalacia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.17 KALRN PAH QDPR RBP4 RHO TF

Drugs & Therapeutics for Keratomalacia

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

(show top 50) (show all 97)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
2
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
6
Racepinephrine Approved Phase 4 329-65-7 838
7
Albendazole Approved, Vet_approved Phase 4 54965-21-8 2082
8
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 11103-57-4, 68-26-8 445354
9
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
10 Hormone Antagonists Phase 4,Phase 2
11 Antineoplastic Agents, Hormonal Phase 4,Phase 2
12 Micronutrients Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
13 Peripheral Nervous System Agents Phase 4,Phase 2
14 Anti-Inflammatory Agents Phase 4,Phase 2
15 Antioxidants Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
16 Protective Agents Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
17 Retinol palmitate Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
18 retinol Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
19 Antiemetics Phase 4,Phase 2
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2
21 Hormones Phase 4,Phase 2
22 Vitamins Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
23 Trace Elements Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
24 Gastrointestinal Agents Phase 4,Phase 2
25 Autonomic Agents Phase 4,Phase 2
26 glucocorticoids Phase 4,Phase 2
27 Epinephryl borate Phase 4
28 Prednisolone acetate Phase 4
29 Neuroprotective Agents Phase 4
30 Methylprednisolone acetate Phase 4
31 Antiprotozoal Agents Phase 4
32 Antimitotic Agents Phase 4
33 Anti-Infective Agents Phase 4,Not Applicable
34 Anthelmintics Phase 4,Not Applicable
35 Antiparasitic Agents Phase 4
36 Orange Approved Phase 3,Not Applicable
37
Iron Approved Phase 2, Phase 3,Phase 3,Early Phase 1,Not Applicable 7439-89-6 23925
38
Tocopherol Approved, Investigational Phase 2, Phase 3,Not Applicable 1406-66-2 14986
39
Ferrous fumarate Approved Phase 3 141-01-5
40
leucovorin Approved Phase 3,Not Applicable 58-05-9 6006 143
41
Beta carotene Approved, Nutraceutical Phase 3,Phase 2,Not Applicable 7235-40-7
42
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3,Not Applicable 59-02-9 14985
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
44 Tocotrienol Investigational Phase 2, Phase 3,Not Applicable 6829-55-6
45 Vaccines Phase 2, Phase 3,Not Applicable
46 Carotenoids Phase 3,Phase 2,Not Applicable
47 Provitamins Phase 3,Phase 2,Not Applicable
48 Tin Fluorides Phase 2, Phase 3
49 Tocotrienols Phase 2, Phase 3,Not Applicable
50 Tocopherols Phase 2, Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 72)
# Name Status NCT ID Phase Drugs
1 Adrenal Cortical Function and Vitamin A Deficiency in Sepsis Completed NCT03152474 Phase 4 Solumedrol 20mg;Vitamin A 100,000 IU
2 Deworming and Enhanced Vitamin A Every 6 Month in Rural Indian Children Aged 1-6 Completed NCT00222547 Phase 4 Vitamin A;Albendazole
3 Efficacy of β-carotene Biofortified Maize in Reducing Vitamin A Deficiency Among Children Completed NCT01695148 Phase 3
4 Efficacy of Biofortified Maize to Improve Maternal and Infant Vitamin A Status Completed NCT02804490 Phase 3
5 Stopping Postpartum Vitamin A Supplementation: Missing Concealed Benefit Completed NCT02043223 Phase 2, Phase 3
6 Impact of Maternal Supplementation With Dual Megadose of Vitamin A Completed NCT00742937 Phase 2, Phase 3
7 Trial of the Impact of Vitamin A on Maternal Mortality Completed NCT00211341 Phase 3
8 Impact of Maternal Vitamin A or Beta-Carotene Supplementation on Maternal and Infant Mortality in Bangladesh Completed NCT00198822 Phase 3
9 Sub-clinical Inflammation and Iron Supplementation Completed NCT01198574 Phase 3
10 Community Trial of Newborn Vitamin A Supplementation to Reduce Infant Mortality in Rural Bangladesh Terminated NCT00128557 Phase 3 vitamin A supplementation (50,000 IU)
11 Effect of Vitamin A Supplementation on Immune Responses in Human Neonates Unknown status NCT01476358 Phase 2
12 Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study Unknown status NCT02804360 Phase 2
13 Vitamin A Absorption From Cassava in Women Completed NCT01381276 Phase 2
14 Vitamin A Equivalence of Plant Carotenoids in Children Completed NCT00680212 Phase 2
15 Vitamin A to Reduce HIV in Vaginal Secretions and Prevent Viral Transmission Completed NCT00053612 Phase 2 Vitamin A
16 Single-dose Postpartum Vitamin A Supplementation of Mothers and Neonates Active, not recruiting NCT00198718 Phase 2 Vitamin A (retinyl palmitate)
17 Gene Therapy for Gyrate Atrophy Completed NCT00001735 Phase 1
18 Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye Completed NCT00063765 Phase 1 Ciliary Neurotrophic Factor Implant NT-501
19 Vitamin A Supplementation in Preterm Infants Unknown status NCT00063596 Not Applicable Vitamin A supplementation
20 Vitamin A Total Body Stores of Senegalese Children in Relation to Their Infectious Status Unknown status NCT03207308 Not Applicable
21 The Role of Multivitamins in Pediatric HIV Management in Nigeria Unknown status NCT02552602 Not Applicable
22 Treatment of Congenital Stationary Night Blindness With an Alga Containing High Dose of Beta Carotene Completed NCT00569023 Not Applicable
23 Using Stable Isotope Techniques to Monitor and Assess the Vitamin A Status of Children Susceptible to Infection Completed NCT02363985 Not Applicable
24 Efficacy of Newborn Vitamin A Supplementation in Improving Immune Function Completed NCT01583972 Not Applicable
25 Efficacy of Vitamin A in Fortified Extruded Rice in School Children Completed NCT01199445 Early Phase 1
26 Newborn Vitamin A (VA) Supplementation Pilot Project, Pakistan Completed NCT00674089 Not Applicable
27 Dietary Vitamin A Requirement in Chinese Children and the New Technology of Dietary Assessment Completed NCT01559766
28 Vitamin A, Stool Microbiota and Vaccine Response in Bangladeshi Infants Completed NCT02027610
29 An Efficacy Trial of Iron, Zinc and Vitamin A Fortified Rice in Children in Satun, Thailand Completed NCT01061307 Early Phase 1
30 Retinol Equivalence of Plant Carotenoids in Children Completed NCT00082420
31 Vitamin A Liver Reserves and Serum Markers of Vitamin A in US Adults at Time of Death Completed NCT03305042
32 The Efficacy of Pro-vitamin A Biofortified Cassava on Vitamin A Status in Nigerian Preschool Children Completed NCT02627222 Not Applicable
33 Efficacy of Yellow Cassava to Improve Vitamin A Status of Kenyan School Children Completed NCT01614483 Not Applicable
34 Using Stable Isotopes to Assess the Effectiveness of Vitamin A Supplementation in Cameroon Completed NCT03383744 Not Applicable
35 Vitamin A Equivalence of the Provitamin A in Biofortified Bananas Completed NCT02702622 Not Applicable
36 Beta-carotene Absorption and Bioconversion to Vitamin A From Biofortified Cassava Gari Completed NCT02210507 Not Applicable
37 Effect of Daily Consumption of Orange Maize on Breast Milk Retinol in Lactating Zambian Women Completed NCT01922713 Not Applicable
38 Vitamin A Bioavailability in Lactating Women With Marginal Vitamin A Status Completed NCT01420406 Not Applicable
39 Impact of Consumption of Orange-fleshed Sweet Potatoes on the Vitamin A Status of Bangladeshi Women of Reproductive Age Completed NCT00453648 Not Applicable
40 Evaluation of a Night Spectacle Correction Concerning an Improvement of Mesopic Vision Quality Completed NCT02965534 Not Applicable
41 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985 Not Applicable
42 Effect of SNPs in the BCMO1 Enzyme Completed NCT02276014 Not Applicable
43 Nutritional Outcomes After Vitamin A Supplementation in Subjects With SCD Completed NCT03632876 Not Applicable
44 Assessing Model Parameters for Applying the Retinol Isotope Dilution (RID) Method Completed NCT02996513 Not Applicable
45 A Study on Immunological Effect of Vitamin A and Zinc in a Placebo Controlled 4 Cell Trial Completed NCT00374023 Not Applicable Zinc, or Vitamin A or both
46 Making Maternal Post-partum Vitamin A Supplementation Effective: The Role of Timing and Inflammation Completed NCT00952640 Not Applicable
47 Vitamin A and Maternal-infant Flu Vaccine Response Completed NCT00817661 Not Applicable
48 Oral Vitamin A Supplementation in Neonates With Birth Weight < 1500 g Completed NCT02102711 Not Applicable
49 High/Low Dose Vit A in Diarrhea/ALRI in Severe PEM Completed NCT00388921 Not Applicable Vitamin A
50 Identification of New Biomarkers of Banana and Tomato Intake Completed NCT03581955 Not Applicable

Search NIH Clinical Center for Keratomalacia

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: keratomalacia

Genetic Tests for Keratomalacia

Anatomical Context for Keratomalacia

MalaCards organs/tissues related to Keratomalacia:

41
Bone, Kidney, Liver, Heart, Endothelial, Eye, Lung

Publications for Keratomalacia

Articles related to Keratomalacia:

(show top 50) (show all 1070)
# Title Authors Year
1
Unusual manifestation of vitamin A deficiency presenting with generalized xerosis without night blindness. ( 29744078 )
2018
2
Four years after implementation of a national micronutrient powder program in Kyrgyzstan, prevalence of iron deficiency and iron deficiency anemia is lower, but prevalence of vitamin A deficiency is higher. ( 30523305 )
2018
3
Night Blindness, Bitot's Spot & Vitamin A Deficiency. ( 30265370 )
2018
4
Identification of Competing Endogenous RNA Regulatory Networks in Vitamin A Deficiency-Induced Congenital Scoliosis by Transcriptome Sequencing Analysis. ( 30110682 )
2018
5
Roux-en-Y Gastric Bypass Aggravates Vitamin A Deficiency in the Mother-Child Group. ( 28676956 )
2018
6
Discovery and biological relevance of 3,4-didehydroretinol (vitamin A2) in small indigenous fish species and its potential as a dietary source for addressing vitamin A deficiency. ( 28776449 )
2018
7
Conjunctival xerosis caused by vitamin A deficiency. ( 28939634 )
2018
8
Hormonal contraceptive use and vitamin A deficiency among women in Tanzania. ( 29159927 )
2018
9
Comparability of Inflammation-Adjusted Vitamin A Deficiency Estimates and Variance in Retinol Explained by C-Reactive Protein and α1-Acid Glycoprotein during Low and High Malaria Transmission Seasons in Rural Zambian Children. ( 29165226 )
2018
10
Vitamin A deficiency in mice alters host and gut microbial metabolism leading to altered energy homeostasis. ( 29227833 )
2018
11
Vitamin A Deficiency Induces Autistic-Like Behaviors in Rats by Regulating the RARβ-CD38-Oxytocin Axis in the Hypothalamus. ( 29266770 )
2018
12
Wood's lamp examination: a novel diagnostic approach to detect Bitot's spots in vitamin A deficiency. ( 29327494 )
2018
13
Vitamin A deficiency induces endoplasmic reticulum stress and apoptosis in pancreatic islet cells: Implications of stearoyl-CoA desaturase 1-mediated oleic acid synthesis. ( 29409806 )
2018
14
REVERSIBLE NYCTALOPIA ASSOCIATED WITH VITAMIN A DEFICIENCY AFTER RESECTED MALIGNANT ILEAL CARCINOID AND PANCREATIC ADENOCARCINOMA. ( 29554055 )
2018
15
Vitamin A Deficiency Due to Selective Eating as a Cause of Blindness in a High-Income Setting. ( 29610168 )
2018
16
VITAMIN A DEFICIENCY IN BRAZILIAN CHILDREN AND ASSOCIATED VARIABLES. ( 29617474 )
2018
17
Prevalence of Vitamin A deficiency among under-five children in South-Western Nigeria. ( 29676339 )
2018
18
Developing a Model of Vitamin A Deficiency in a Hibernating Mammal, the 13-Lined Ground Squirrel (Ictidomys tridecemlineatus). ( 29801522 )
2018
19
β-apo-10'-carotenoids support normal embryonic development during vitamin A deficiency. ( 29892071 )
2018
20
Recent advances in banana (musa spp.) biofortification to alleviate vitamin A deficiency. ( 29999424 )
2018
21
Vitamin A Deficiency and the Lung. ( 30134568 )
2018
22
The Prevalence of Vitamin A Deficiency and Associated Factors in Pregnant Women Receiving Prenatal Care at a Reference Maternity Hospital in Northeastern Brazil. ( 30205601 )
2018
23
Vitamin A deficiency is associated with body mass index and body adiposity in women with recommended intake of vitamin A. ( 30307289 )
2018
24
Marginal Vitamin A Deficiency Affects the Expression Levels and Localization of Retinoic Acid Receptor and Retinoid X Receptor in Rats Meibomian Gland. ( 30512978 )
2018
25
Xerosis in Patient with Vitamin A Deficiency - a Case Report. ( 30541304 )
2018
26
Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye. ( 27892788 )
2017
27
Vitamin A deficiency and determinants of vitamin A status in Bangladeshi children and women: findings of a national survey. ( 27890019 )
2017
28
Marginal Vitamin A Deficiency Exacerbates Memory Deficits Following Aβ1-42 Injection in Rats. ( 28017127 )
2017
29
Vitamin A deficiency suppresses fish immune function with differences in different intestinal segments: the role of transcriptional factor NF-κB and p38 mitogen-activated protein kinase signalling pathways. ( 28098047 )
2017
30
Marginal vitamin A deficiency facilitates Alzheimer's pathogenesis. ( 28130638 )
2017
31
Vitamin A Supplementation Programs and Country-Level Evidence of Vitamin A Deficiency. ( 28245571 )
2017
32
We Need Studies of the Mortality Effect of Vitamin A Supplementation, Not Surveys of Vitamin A Deficiency. ( 28294986 )
2017
33
Vitamin A deficiency in chronic cholestatic liver disease: Is vitamin A therapy beneficial? ( 28371374 )
2017
34
Vitamin A deficiency due to chronic malabsorption: an ophthalmic manifestation of a systemic condition. ( 28490481 )
2017
35
The change in retinoic acid receptor signaling induced by prenatal marginal vitamin A deficiency and its effects on learning and memory. ( 28570942 )
2017
36
Burden of disease attributable to vitamin A deficiency in Iranian population aged less than five years: findings from the global burden of disease study 2010. ( 28808642 )
2017
37
Correction: Vitamin A deficiency due to chronic malabsorption: an ophthalmic manifestation of a systemic condition. ( 28847769 )
2017
38
Tackling vitamin A deficiency with biofortified sweetpotato in sub-Saharan Africa. ( 28989861 )
2017
39
Prevnar-13 vaccine failure in a mouse model for vitamin A deficiency. ( 29032897 )
2017
40
The Effect of Red Palm Oil on Vitamin A Deficiency: A Meta-Analysis of Randomized Controlled Trials. ( 29186779 )
2017
41
The Prevalence of Vitamin A Deficiency in Chinese Children: A Systematic Review and Bayesian Meta-Analysis. ( 29186832 )
2017
42
Rapid diagnostic testing platform for iron and vitamin A deficiency. ( 29203653 )
2017
43
Serum retinol in post-partum mothers and newborns from an impoverished South African community where liver is frequently eaten and vitamin A deficiency is absent. ( 26564246 )
2017
44
The vicious cycle of vitamin a deficiency: A review. ( 27128154 )
2017
45
Vitamin A deficiency and xerophthalmia in children of a developed country. ( 27439630 )
2016
46
Keratomalacia in a Patient With Psychogenic Vitamin A Deficiency. ( 26785304 )
2016
47
Effects of Donor Vitamin A Deficiency and Pharmacologic Modulation of Donor T Cell Retinoic Acid Pathway on the Severity of Experimental Graft-versus-Host Disease. ( 27596131 )
2016
48
Relationship between vitamin A deficiency and the thyroid axis in clinically stable patients with liver cirrhosis related to hepatitis C virus. ( 27557336 )
2016
49
The Molecular Mechanisms of Vitamin A Deficiency in Multiple Sclerosis. ( 27356515 )
2016
50
Vitamin A Deficiency Promotes Inflammation by Induction of Type 2 Cytokines in Experimental Ovalbumin-Induced Asthma Murine Model. ( 27525423 )
2016

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:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.02 KALRN QDPR RBP4 TF TTR

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

# Name GO ID Score Top Affiliating Genes
1 retinol metabolic process GO:0042572 9.16 RBP4 TTR
2 L-phenylalanine catabolic process GO:0006559 8.96 PAH QDPR
3 retinoid metabolic process GO:0001523 8.8 RBP4 RHO TTR

Sources for Keratomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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