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: Kidney Diseases (D007674)
Parent Node: Urolithiasis (D052878)
..Starting node ..Nephrolithiasis (D053040)
Child Nodes:
........Dent disease 1 (C538212)
........Dent Disease 2 (C564487)
........Kidney Calculi (D007669) 2
........Nephrolithiasis, Calcium Oxalate (C563477)
........Nephrolithiasis, X-Linked Recessive, with Renal Failure (C562901)
........Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
........Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
........NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1 (OMIM:612286)
........NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Sister Nodes:
..Adenine phosphoribosyltransferase deficiency (C538228)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Nephrolithiasis (D053040) 11
..Ureterolithiasis (D053039) 1
..Urinary Calculi (D014545) 6
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	7872
Name:	Nephrolithiasis
Definition:	Formation of stones in the KIDNEY.
Alternative IDs:
ParentIDs:	MESH:D007674\|MESH:D052878
TreeNumbers:	C12.777.419.600 \|C12.777.967.249 \|C13.351.968.419.600 \|C13.351.968.967.249
Synonyms:
Slim Mappings:	Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D053040 MeSH: D053040 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants