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: disorder of mineral absorption and transport (MONDO:0017761)
..Starting node ..disorder of magnesium transport ()
Child Nodes:
........familial primary hypomagnesemia ()
Sister Nodes:
..disorder of copper metabolism ()
..disorder of iron metabolism and transport ()
..disorder of magnesium transport ()
..disorder of manganese transport ()
..disorder of zinc metabolism ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17765
Name:	disorder of magnesium transport
Definition:	An acquired metabolic disease that is has its basis in the disruption of magnesium ion transport.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	inborn error of magnesium ion transport; inborn magnesium ion transport disorder; rare inborn error of magnesium ion transport; rare inborn error of magnesium ion transport
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal