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: Hyperparathyroidism, Secondary (D006962)
Parent Node: Kidney Diseases (D007674)
Parent Node: Rickets (D012279)
..Starting node ..Renal Osteodystrophy (D012080)
Child Nodes:
Sister Nodes:
..Hypophosphatemic Rickets, Autosomal Dominant (C562791)
..Osteomalacia (D010018) 2
..Renal Osteodystrophy (D012080)
..Rickets, Hypophosphatemic (D063730) 11
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9661
Name:	Renal Osteodystrophy
Definition:	Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders.
Alternative IDs:
ParentIDs:	MESH:D001851\|MESH:D006962\|MESH:D007674\|MESH:D012279
TreeNumbers:	C05.116.198.762 \|C05.116.198.816.750 \|C12.777.419.795 \|C13.351.968.419.795 \|C18.452.174.845.750 \|C18.654.521.500.133.770.734.750 \|C19.642.355.480.500
Synonyms:	Osteodystrophies, Renal \|Osteodystrophy, Renal \|Renal Osteodystrophies \|Renal Rickets \|Rickets, Renal
Slim Mappings:	Endocrine system disease\|Metabolic disease\|Musculoskeletal disease\|Nutrition disorder\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D012080 MeSH: D012080 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants