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: disorder of organic acid metabolism (MONDO:0045022)
Parent Node: sulfur metabolism disease (MONDO:0056803)
..Starting node ..biotin metabolic disease ()
Child Nodes:
........nutritional biotin deficiency ()
Sister 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 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	20699
Name:	biotin metabolic disease
Definition:	A deficiency in biotin through either inherited or acquired causes.
Alternative IDs:
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal