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: phosphorus metabolism disease (MONDO:0002319)
..Starting node ..hypophosphatemia (disease) ()
Child Nodes:
Sister Nodes:
..fatal multiple mitochondrial dysfunctions syndrome ()
..hyperphosphatemia (disease) ()
..hypophosphatemia (disease) ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	313
Name:	hypophosphatemia (disease)
Definition:	Lower than normal levels of phosphates in the circulating blood.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	hypophosphatemia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal