MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: mineral metabolism disease (MONDO:0000226)
Parent Node: nutritional disorder (MONDO:0005137)
..Starting node ..potassium deficiency disease ()
Child Nodes:
Sister Nodes:
..eating disorder ()
..hemorrhagic disease of newborn ()
..lactose intolerance (disease) ()
..nutritional deficiency disease ()
..overnutrition ()
..potassium deficiency disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	3019
Name:	potassium deficiency disease
Definition:	Any disorder caused by an insufficient amount or availability of potassium, which generally manifests with myalgia, tetany, hypotension, polyuria, and polydipsia.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	hypokalemia; hypopotassemia; potassium deficiency disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: WFS1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal