MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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: mineral metabolism disease (MONDO:0000226)
..Starting node ..phosphorus metabolism disease ()
Child Nodes:
........fatal multiple mitochondrial dysfunctions syndrome ()
........hyperphosphatemia (disease) ()
........hypophosphatemia (disease) ()
Sister Nodes:
..acquired mineral metabolism disease ()
..calcium metabolic disease ()
..iron metabolism disease ()
..phosphorus metabolism disease ()
..potassium deficiency disease ()
..sulfur metabolism disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	2319
Name:	phosphorus metabolism disease
Definition:	A metabolic disorder that affects the phosphate homeostasis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disorder of phosphorus metabolism; phosphorus disorder; phosphorus metabolic disorder; phosphorus metabolism disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal