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 ..sulfur metabolism disease ()
Child Nodes:
........biotin metabolic disease ()
........hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies ()
........inborn disorder of methionine cycle and sulfur amino acid metabolism ()
........inherited glutathione metabolism disease ()
........inherited lipoic acid biosynthesis defect ()
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:	56803
Name:	sulfur metabolism disease
Definition:	A disease that has its basis in the disruption of sulfur compound metabolic process.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disorder of sulfur compound metabolic process; disorder of sulfur metabolic process; disorder of sulfur metabolism; disorder of sulphur metabolism; sulfur compound metabolic process disease
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal