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

Term ID:	43176
Name:	phosphoribosylpyrophosphate synthetase deficiency
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	PRPP synthetase deficiency
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal