MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation 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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: rickets (disease) (MONDO:0005520)
Parent Node: secondary hyperparathyroidism of renal origin (MONDO:0001530)
..Starting node ..renal osteodystrophy ()
Child Nodes:
Sister Nodes:
..renal osteodystrophy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6946
Name:	renal osteodystrophy
Definition:	Abnormalities of bone mineral metabolism associated with chronic kidney disease.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Osteodystrophies, renal; osteodystrophy, renal; renal Osteodystrophies; renal rickets; rickets, renal
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal