Osmotic Diarrhea disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: OSM001 MIFTS: 28	Osmotic Diarrhea Categories: Gastrointestinal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Osmotic Diarrhea

MalaCards integrated aliases for Osmotic Diarrhea:

Name: Osmotic Diarrhea ¹² ¹⁵ ⁷¹

Classifications:

MalaCards categories:
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0050130

UMLS ⁷¹ C0267556

Sources

Summaries for Osmotic Diarrhea

Disease Ontology : ¹² Osmotic diarrhea is a dirrhea where diarrhea occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products.

MalaCards based summary : Osmotic Diarrhea is related to diarrhea and secretory diarrhea, and has symptoms including diarrhea An important gene associated with Osmotic Diarrhea is WNT2B (Wnt Family Member 2B), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glycosaminoglycan metabolism. Affiliated tissues include small intestine, colon and liver, and related phenotype is digestive/alimentary.

Sources

Related Diseases for Osmotic Diarrhea

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

(show all 24)

#	Related Disease	Score	Top Affiliating Genes
1	diarrhea	30.2	WNT2B STX3 SLC9A3 SLC9A2 SLC5A1 SLC26A3
2	secretory diarrhea	29.3	SLC9A3 SLC9A2 SLC26A3 PRSS57 GUCA2A
3	diarrhea 9	11.2
4	trehalase deficiency	11.0
5	intestinal impaction	10.2	SLC9A3 SLC26A3
6	spermatocele	10.2	SLC9A3 SLC26A3
7	diarrhea 5, with tufting enteropathy, congenital	10.2	SLC9A3 SLC26A3
8	diarrhea 1, secretory chloride, congenital	10.1	SLC9A3 SLC9A2 SLC26A3
9	lactose intolerance	10.1	SLC2A5 LCT
10	diarrhea 8, secretory sodium, congenital	10.1	STX3 SLC9A3
11	acute diarrhea	10.0	SLC9A3 PRSS57
12	renal glucosuria	10.0	SLC5A1 SLC2A2
13	hemophagocytic lymphohistiocytosis, familial, 5	10.0	STXBP2 STX3
14	inflammatory diarrhea	10.0	SLC9A3 SLC9A2 SLC5A1 SLC26A3
15	dysentery	9.9	SLC9A3 SLC26A3 PRSS57
16	chylomicron retention disease	9.9	SLC5A1 LCT
17	trigonitis	9.9	SLC5A1 MGAM
18	hemophagocytic lymphohistiocytosis, familial, 4	9.9	STXBP2 STX3
19	shigellosis	9.9
20	chicken egg allergy	9.8	SLC5A1 MGAM LCT
21	sucrase-isomaltase deficiency, congenital	9.8	SLC5A1 MGAM LCT
22	diabetes mellitus, ketosis-prone	9.8	SLC5A1 MGAM
23	congenital diarrhea	9.6	STXBP2 STX3 SLC9A3 SLC5A1 SLC26A3
24	diarrhea 2, with microvillus atrophy	9.4	STXBP2 STX3 SLC9A3 SLC5A1 SLC26A3 CDHR2

Graphical network of the top 20 diseases related to Osmotic Diarrhea:

Sources

Symptoms & Phenotypes for Osmotic Diarrhea

UMLS symptoms related to Osmotic Diarrhea:

diarrhea

MGI Mouse Phenotypes related to Osmotic Diarrhea:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	digestive/alimentary	MP:0005381	9.1	CDHR2 GUCA2A SLC26A3 SLC5A1 SLC9A2 SLC9A3

Sources

Drugs & Therapeutics for Osmotic Diarrhea

Search Clinical Trials , NIH Clinical Center for Osmotic Diarrhea

Sources

Genetic Tests for Osmotic Diarrhea

Sources

Anatomical Context for Osmotic Diarrhea

MalaCards organs/tissues related to Osmotic Diarrhea:

⁴⁰

Small Intestine, Colon, Liver

Sources

Publications for Osmotic Diarrhea

Articles related to Osmotic Diarrhea:

(show top 50) (show all 110)

#	Title	Authors	PMID	Year
1	Novel variants in the stem cell niche factor WNT2B define the disease phenotype as a congenital enteropathy with ocular dysgenesis. ⁶¹	Zhang YJ...Thiagarajah JR	33526876	2021
2	Chronic Diarrhea in Adults: Evaluation and Differential Diagnosis. ⁶¹	Burgers K...Bevis ZJ	32293842	2020
3	Stool Reducing Sugars and Stool pH Are Poor Screening Tests for Intestinal Disaccharidase Deficiencies in Children. ⁶¹	Erickson JA...Johnson LM	32445391	2020
4	Sorbitol: Often forgotten cause of osmotic diarrhea. ⁶¹	Liauw S...Saibil F	31413027	2019
5	Potential role of fecal volatile organic compounds as biomarkers of chemically induced intestinal inflammation in mice. ⁶¹	Reade S...Probert CS	30359099	2019
6	Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. ⁶¹	O'Connell AE...Agrawal PB	29909964	2018
7	Transient Osmotic Perturbation Causes Long-Term Alteration to the Gut Microbiota. ⁶¹	Tropini C...Sonnenburg JL	29906449	2018
8	Biological Activities of Lactose-Derived Prebiotics and Symbiotic with Probiotics on Gastrointestinal System. ⁶¹	Nath A...Vatai G	30344249	2018
9	SLC5A1 Mutations in Saudi Arabian Patients With Congenital Glucose-Galactose Malabsorption. ⁶¹	Al-Suyufi Y...Imtiaz F	28753187	2018
10	HldE Is Important for Virulence Phenotypes in Enterotoxigenic Escherichia coli. ⁶¹	Maigaard Hermansen GM...Moller-Jensen J	30131942	2018
11	Comparison of a commercially available oral nutritional supplement and intravenous fluid therapy for dehydration in dairy calves. ⁶¹	Taylor JD...Snider TA	28390725	2017
12	IL-22 Upregulates Epithelial Claudin-2 to Drive Diarrhea and Enteric Pathogen Clearance. ⁶¹	Tsai PY...Turner JR	28618266	2017
13	Effectiveness of three commonly used transition phase diets in the inpatient management of children with severe acute malnutrition: a pilot randomized controlled trial in Malawi. ⁶¹	Versloot CJ...Bandsma RHJ	28446221	2017
14	Two Cases of Mistaken Polyuria and Nephrocalcinosis in Infants with Glucose-Galactose Malabsorption: A Possible Role of 1,25(OH)2D3 . ⁶¹	Fiscaletti M...Jantchou P	28152538	2017
15	The multiple roles of sucrase-isomaltase in the intestinal physiology. ⁶¹	Gericke B...Naim HY	26812950	2016
16	Celiac Disease Presenting as Profound Diarrhea and Weight Loss - A Celiac Crisis. ⁶¹	Bul V...Boulay B	27492679	2016
17	Gastrointestinal Disturbances Associated with the Consumption of Sugar Alcohols with Special Consideration of Xylitol: Scientific Review and Instructions for Dentists and Other Health-Care Professionals. ⁶¹	Makinen KK	27840639	2016
18	Is fructose malabsorption a cause of irritable bowel syndrome? ⁶¹	DiNicolantonio JJ...Lucan SC	26059250	2015
19	Zinc treatment ameliorates diarrhea and intestinal inflammation in undernourished rats. ⁶¹	de Queiroz CA...Oria RB	25095704	2014
20	The effects of sodium sulfate in the water of nursery pigs and the efficacy of nonnutritive feed additives to mitigate those effects. ⁶¹	Flohr JR...Nelssen JL	24981569	2014
21	Bitterness of glucose/galactose: novel mutations in the SLC5A1 gene. ⁶¹	Pode-Shakked B...Anikster Y	24048166	2014
22	Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations. ⁶¹	Stepensky P...Posovszky C	23382066	2013
23	Cola-induced hypokalemia-a case report and review of the literature. ⁶¹	Sharma R...Guber HA	23186978	2013
24	Alterations in the colonic microbiota in response to osmotic diarrhea. ⁶¹	Gorkiewicz G...Hogenauer C	23409050	2013
25	Clinical approach to diarrhea. ⁶¹	Corinaldesi R...De Giorgio R	23073866	2012
26	Diarrhea caused by circulating agents. ⁶¹	Fabian E...Krejs GJ	22917166	2012
27	Intravenous hypertonic saline solution (7.5%) and oral electrolytes to treat of calves with noninfectious diarrhea and metabolic acidosis. ⁶¹	Leal ML...Benesi FJ	22708669	2012
28	Developmental toxicity evaluations of whole mixtures of disinfection by-products using concentrated drinking water in rats: gestational and lactational effects of sulfate and sodium. ⁶¹	Narotsky MG...Simmons JE	22495758	2012
29	Effects of papaya seeds extract on the sperm characteristics of dogs. ⁶¹	Ortega-Pacheco A...Perez-Gutierrez MS	22030338	2011
30	Approach to fecal incontinence and constipation in older hospitalized patients. ⁶¹	Leung FW...Rao SS	21441765	2011
31	Astrovirus infection induces sodium malabsorption and redistributes sodium hydrogen exchanger expression. ⁶¹	Nighot PK...Koci MD	20219227	2010
32	Colon in acute intestinal infection. ⁶¹	Guarino A...Armellino C	19300128	2009
33	Suppressive effect of cellulose on osmotic diarrhea caused by maltitol in healthy female subjects. ⁶¹	Oku T...Nakamura S	18797153	2008
34	Chronic hypokalemia due to excessive cola consumption: a case report. ⁶¹	Packer CD	18625064	2008
35	Glucose Galactose Malabsorption complicated with Rickets and Nephrogenic Diabetes Insipidus. ⁶¹	Al-Lawati T...Vargees T	22359715	2008
36	[Chronic diarrhea: etiologies and diagnostic evaluation]. ⁶¹	Schoepfer A	18557018	2008
37	Liver transplantation for progressive familial intrahepatic cholestasis: clinical and histopathological findings, outcome and impact on growth. ⁶¹	Aydogdu S...Kilic M	17663686	2007
38	Bax is activated during rotavirus-induced apoptosis through the mitochondrial pathway. ⁶¹	Martin-Latil S...Blondel B	17301139	2007
39	Lactulose feeding lowers cecal densities of clostridia in piglets. ⁶¹	Kien CL...Buddington RK	17463144	2007
40	Sorbitol-based osmotic diarrhea: possible causes and mechanism of prevention investigated in rats. ⁶¹	Islam MS...Sakaguchi E	17171792	2006
41	Mechanism of diarrhea in microscopic colitis. ⁶¹	Protic M...Popovic O	16222750	2005
42	A review of the clinical toleration studies of polydextrose in food. ⁶¹	Flood MT...Craig SA	15234083	2004
43	Randomized, double-blind clinical trial of a lactose-free and a lactose-containing formula in dietary management of acute childhood diarrhea. ⁶¹	Simakachorn N...Varavithya W	15279342	2004
44	Effects of prefeeding a prebiotic on diarrhea and colonic cell proliferation in piglets fed lactulose. ⁶¹	Kien CL...Frankel WL	14763789	2004
45	Toxicity of excipients--a Food and Drug Administration perspective. ⁶¹	Osterberg RE...See NA	14555410	2003
46	[Diarrhea]. ⁶¹	Mullhaupt B	12426943	2002
47	Small bowel intestinal permeability in Australian aboriginal children. ⁶¹	Kukuruzovic RH...Brewster DR	12187299	2002
48	Enteric pathogens, intestinal permeability and nitric oxide production in acute gastroenteritis. ⁶¹	Kukuruzovic R...Brewster DR	12192160	2002
49	Effect of wheat enzyme preparation on the performance characteristics of Tom turkeys fed wheat-based rations. ⁶¹	Odetallah NH...Ferket PR	12162360	2002
50	[Effects of secretory and osmotic diarrhea on rats intestinal function and morphology]. ⁶¹	de Lima de Mon M...Hevia P	12214542	2002

Sources

Genes for Osmotic Diarrhea

Genes related to Osmotic Diarrhea (0 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	WNT2B	Wnt Family Member 2B	Protein Coding	11.28	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
2	LCT	Lactase	Protein Coding	7.29	DISEASES inferred ¹⁵
3	SLC5A1	Solute Carrier Family 5 Member 1	Protein Coding	6.49	DISEASES inferred ¹⁵
4	SLC26A3	Solute Carrier Family 26 Member 3	Protein Coding	5.72	DISEASES inferred ¹⁵
5	SLC9A3	Solute Carrier Family 9 Member A3	Protein Coding	5.69	DISEASES inferred ¹⁵
6	GUCA2A	Guanylate Cyclase Activator 2A	Protein Coding	5.68	DISEASES inferred ¹⁵
7	SLC9A2	Solute Carrier Family 9 Member A2	Protein Coding	5.62	DISEASES inferred ¹⁵
8	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	5.6	DISEASES inferred ¹⁵
9	CDHR2	Cadherin Related Family Member 2	Protein Coding	5.59	DISEASES inferred ¹⁵
10	SLC2A5	Solute Carrier Family 2 Member 5	Protein Coding	5.47	DISEASES inferred ¹⁵
11	CDHR5	Cadherin Related Family Member 5	Protein Coding	5.47	DISEASES inferred ¹⁵
12	STXBP2	Syntaxin Binding Protein 2	Protein Coding	5.39	DISEASES inferred ¹⁵
13	PRSS57	Serine Protease 57	Protein Coding	5.21	DISEASES inferred ¹⁵
14	UGCG	UDP-Glucose Ceramide Glucosyltransferase	Protein Coding	5.12	DISEASES inferred ¹⁵
15	MGAM	Maltase-Glucoamylase	Protein Coding	5.11	DISEASES inferred ¹⁵
16	STX3	Syntaxin 3	Protein Coding	5.11	DISEASES inferred ¹⁵

Sources

Variations for Osmotic Diarrhea

Sources

Expression for Osmotic Diarrhea

Search GEO for disease gene expression data for Osmotic Diarrhea.

Sources

Pathways for Osmotic Diarrhea

Pathways related to Osmotic Diarrhea according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds ⁶⁵ Show member pathways Bicarbonate transporters ⁶⁵ Cation-coupled Chloride cotransporters ⁶⁵ Class II GLUTs ⁶⁵ Facilitative Na+-independent glucose transporters ⁶⁵ Inositol transporters ⁶⁵ Multifunctional anion exchangers ⁶⁵ Na+/Cl- dependent neurotransmitter transporters ⁶⁵ Na+-dependent glucose transporters ⁶⁵ Organic anion transport ⁶⁵ Organic anion transporters ⁶⁵ Organic cation transport ⁶⁵ Organic cation/anion/zwitterion transport ⁶⁵ Proton/oligopeptide cotransporters ⁶⁵ Proton-coupled monocarboxylate transport ⁶⁵ Rhesus glycoproteins mediate ammonium transport. ⁶⁵ SLC-mediated transmembrane transport ⁶⁵ Sodium/Calcium exchangers ⁶⁵ Sodium/Proton exchangers ⁶⁵ Sodium-coupled phosphate cotransporters ⁶⁵ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁵ Transmembrane transport of small molecules ⁶⁵ Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁵ Type II Na+/Pi cotransporters ⁶⁵	13.01	SLC9A3 SLC9A2 SLC5A1 SLC2A5 SLC2A2 SLC26A3
2	Glycosaminoglycan metabolism ⁶⁵ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁵ HS-GAG biosynthesis ⁶⁵ Hyaluronan biosynthesis and export ⁶⁵ Hyaluronan metabolism ⁶⁵ Hyaluronan uptake and degradation ⁶⁵ Metabolism of carbohydrates ⁶⁵	12.41	SLC5A1 SLC2A5 SLC2A2 MGAM LCT
3	NRF2 pathway ¹	11.71	SLC5A1 SLC2A5 SLC2A2
4	Hexose transport ⁶⁵ Show member pathways Glucose transport ⁶⁵	11.5	SLC5A1 SLC2A5 SLC2A2
5	Mineral absorption ³⁶	10.9	SLC9A3 SLC5A1 SLC26A3
6	Carbohydrate digestion and absorption ³⁶	10.69	SLC5A1 SLC2A5 SLC2A2 MGAM LCT
7	Digestion of dietary carbohydrate ⁶⁵	10.11	MGAM LCT

Sources

GO Terms for Osmotic Diarrhea

Cellular components related to Osmotic Diarrhea according to GeneCards Suite gene sharing:

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	membrane	GO:0016020	10.29	UGCG STXBP2 STX3 SLC9A3 SLC9A2 SLC5A1
2	plasma membrane	GO:0005886	10.03	STXBP2 STX3 SLC9A3 SLC9A2 SLC5A1 SLC2A5
3	integral component of plasma membrane	GO:0005887	9.97	SLC5A1 SLC2A5 SLC2A2 SLC26A3 LCT CDHR5
4	extracellular exosome	GO:0070062	9.97	STXBP2 STX3 SLC9A3 SLC5A1 SLC2A5 MGAM
5	integral component of membrane	GO:0016021	9.97	UGCG STXBP2 STX3 SLC9A3 SLC9A2 SLC5A1
6	cell-cell junction	GO:0005911	9.7	STX3 SLC5A1 SLC2A2
7	microvillus membrane	GO:0031528	9.51	CDHR5 CDHR2
8	brush border	GO:0005903	9.5	SLC9A3 SLC2A2 CDHR2
9	spanning component of plasma membrane	GO:0044214	9.46	CDHR5 CDHR2
10	specific granule	GO:0042581	9.43	STXBP2 STX3
11	azurophil granule	GO:0042582	9.4	STXBP2 STX3
12	brush border membrane	GO:0031526	9.35	SLC9A3 SLC5A1 SLC26A3 CDHR5 CDHR2
13	apical plasma membrane	GO:0016324	9.32	STX3 SLC9A3 SLC5A1 SLC2A5 SLC2A2 SLC26A3

Biological processes related to Osmotic Diarrhea according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	carbohydrate metabolic process	GO:0005975	9.8	SLC2A5 SLC2A2 MGAM LCT
2	transmembrane transport	GO:0055085	9.8	SLC9A3 SLC9A2 SLC5A1 SLC2A5 SLC2A2 SLC26A3
3	sodium ion transport	GO:0006814	9.7	SLC9A3 SLC9A2 SLC5A1
4	anion transmembrane transport	GO:0098656	9.61	SLC9A3 SLC9A2 SLC26A3
5	regulation of intracellular pH	GO:0051453	9.54	SLC9A3 SLC9A2
6	carbohydrate transport	GO:0008643	9.54	SLC5A1 SLC2A5 SLC2A2
7	regulation of pH	GO:0006885	9.51	SLC9A3 SLC9A2
8	regulation of microvillus length	GO:0032532	9.48	CDHR5 CDHR2
9	fructose transmembrane transport	GO:0015755	9.46	SLC2A5 SLC2A2
10	polysaccharide digestion	GO:0044245	9.4	MGAM LCT
11	glucose transmembrane transport	GO:1904659	9.33	SLC5A1 SLC2A5 SLC2A2
12	intermicrovillar adhesion	GO:0090675	9.26	CDHR5 CDHR2
13	sodium ion import across plasma membrane	GO:0098719	9.13	SLC9A3 SLC9A2 SLC5A1
14	intestinal hexose absorption	GO:0106001	8.8	SLC5A1 SLC2A5 SLC2A2

Molecular functions related to Osmotic Diarrhea according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transporter activity	GO:0022857	9.63	SLC5A1 SLC2A5 SLC2A2
2	hydrolase activity, hydrolyzing O-glycosyl compounds	GO:0004553	9.43	MGAM LCT
3	antiporter activity	GO:0015297	9.43	SLC9A3 SLC9A2 SLC26A3
4	solute:proton antiporter activity	GO:0015299	9.4	SLC9A3 SLC9A2
5	sodium:proton antiporter activity	GO:0015385	9.37	SLC9A3 SLC9A2
6	potassium:proton antiporter activity	GO:0015386	9.32	SLC9A3 SLC9A2
7	D-glucose transmembrane transporter activity	GO:0055056	9.16	SLC5A1 SLC2A2
8	fructose transmembrane transporter activity	GO:0005353	8.96	SLC2A5 SLC2A2
9	glucose transmembrane transporter activity	GO:0005355	8.8	SLC5A1 SLC2A5 SLC2A2

Sources

Sources for Osmotic Diarrhea

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia