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: mitochondrial complex III deficiency nuclear type 1 (MONDO:0007415)
Parent Node: mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes (MONDO:0017718)
..Starting node ..renal tubulopathy-encephalopathy-liver failure syndrome ()
Child Nodes:
Sister Nodes:
..3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome () L: 00484;
..Bjornstad syndrome () L: 00084;
..exercise intolerance with lactic acidosis ()
..fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency ()
..fatal multiple mitochondrial dysfunctions syndrome ()
..gracile syndrome () L: 00104;
..mitochondrial complex V (ATP synthase) deficiency nuclear type 2 () L: 00024;
..renal tubulopathy-encephalopathy-liver failure syndrome ()
..severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	16811
Name:	renal tubulopathy-encephalopathy-liver failure syndrome
Definition:	Renal tubulopathy - encephalopathy - liver failure describes a spectrum of phenotypes with manifestations similar but milder than those seen in GRACILE syndrome (see this term) and that can be associated with encephalopathy and psychiatric disorders.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal