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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

Disease Browser
Parent Node: Hypercholesterolemia (D006937)
Parent Node: Hypertension (D006973)
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
Child Nodes:
Sister Nodes:
..Acidosis, Renal Tubular (D000141) 11
..Azotemia, Familial (C566233)
..Bartter Syndrome (D001477) 8
..Dent Disease (D057973) 1
..Donnai-Barrow syndrome (C536390)
..Fanconi Syndrome (D005198) 3
..Gitelman Syndrome (D053579) 1
..Glycosuria, Renal (D006030) 1
..Hypomagnesemia 1, Intestinal (C566593)
..Hypomagnesemia 2, renal (C537152)
..Hypomagnesemia 4, Renal (C567127)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Hypomagnesemia primary (C537153)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Hypophosphatemia, Familial (D007015) 11
..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..Hypouricemia, Renal, 2 (C567426)
..Iminoglycinuria (C536285)
..Liddle Syndrome (D056929)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..Oculocerebrorenal Syndrome (D009800) 1
..Pseudohypoaldosteronism (D011546) 4
..Renal Aminoacidurias (D000608) 9
..Renal hypouricemia (C537757)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5585
Name:	Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
Definition:
Alternative IDs:
ParentIDs:	MESH:D006937\|MESH:D006973\|MESH:D015499
TreeNumbers:	C12.777.419.815/C564024 \|C13.351.968.419.815/C564024 \|C14.907.489/C564024 \|C16.320.565.861/C564024 \|C18.452.584.500.500.396/C564024 \|C18.452.648.861/C564024
Synonyms:
Slim Mappings:	Cardiovascular disease\|Genetic disease (inborn)\|Metabolic disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C564024 MeSH: C564024 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants