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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: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
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:

5656

Name:

Hypouricemia, Familial Renal, due to Tubular Hypersecretion

Definition:

Alternative IDs:

ParentIDs:

MESH:D015499

TreeNumbers:

C12.777.419.815/C564405 |C13.351.968.419.815/C564405 |C16.320.565.861/C564405 |C18.452.648.861/C564405

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C564405
MeSH: C564405
OMIM: 307830;

Genes:

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0003537	Hypouricemia

Disease Causing ClinVar Variants