Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Bone Diseases, Metabolic (D001851)
Parent Node: Calcium Metabolism Disorders (D002128)
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
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:

5657

Name:

Hypouricemia, Hypercalcinuria, and Decreased Bone Density

Definition:

Alternative IDs:

ParentIDs:

MESH:D001851|MESH:D002128|MESH:D015499

TreeNumbers:

C05.116.198/C565475 |C12.777.419.815/C565475 |C13.351.968.419.815/C565475 |C16.320.565.861/C565475 |C18.452.174/C565475 |C18.452.648.861/C565475

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C565475
MeSH: C565475
OMIM: 242050;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000924	Abnormality of the skeletal system
3	HP:0002150	Hypercalciuria
4	HP:0003537	Hypouricemia

Disease Causing ClinVar Variants