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: inborn disorder of purine or pyrimidine metabolism (MONDO:0019254)
Parent Node: pyrimidine metabolism disease (MONDO:0037937)
..Starting node ..inborn disorder of pyrimidine metabolism ()
Child Nodes:
........beta-ureidopropionase deficiency ()
........CAD-CDG ()
........dihydropyrimidine dehydrogenase deficiency ()
........dihydropyrimidinuria ()
........hemolytic anemia due to pyrimidine 5' nucleotidase deficiency ()
........hyper-beta-alaninemia ()
........mitochondrial DNA depletion syndrome, myopathic form () L: 00030;
........mitochondrial neurogastrointestinal encephalomyopathy ()
........orotic aciduria ()
Sister Nodes:
..inborn disorder of pyrimidine metabolism ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19238
Name:	inborn disorder of pyrimidine metabolism
Definition:	ANPM
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	disorder of pyrimidine metabolism; inborn error of pyrimidine nucleobase metabolic process; inborn pyrimidine nucleobase metabolic process disorder; pyrimidine metabolic disorder; rare inborn error of pyrimidine nucleobase metabolic process; rare inborn error of pyrimidine nucleobase metabolic proce
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal