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
..Starting node ..inborn disorder of purine or pyrimidine metabolism ()
Child Nodes:
........disorder of glycolysis ()
........inborn disorder of purine metabolism ()
........inborn disorder of pyrimidine metabolism ()
........mitochondrial oxidative phosphorylation disorder ()
........phosphoribosylpyrophosphate synthetase deficiency ()
Sister Nodes:
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19254
Name:	inborn disorder of purine or pyrimidine metabolism
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disorder of purine or pyrimidine metabolism; inborn errors of purine-pyrimidine metabolism; inborn purine-pyrimidine metabolic disorder; purine-pyrimidine metabolic disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal