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: streptococcal infection (MONDO:0021680)
..Starting node ..pneumococcal infection ()
Child Nodes:
........pneumococcal meningitis ()
........streptococcal pneumonia ()
Sister Nodes:
..erysipelas ()
..impetigo ()
..pneumococcal infection ()
..scarlet fever ()
..streptococcal meningitis ()
..streptococcal sore throat ()
..streptococcal toxic-shock syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5114
Name:	pneumococcal infection
Definition:	Infections with bacteria of the species streptococcus pneumoniae.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	infection, pneumococcal; infection, Streptococcus pneumoniae; infections, pneumococcal; infections, Streptococcus pneumoniae; pneumococcal infection; pneumoniae infection, Streptococcus; pneumoniae infections, Streptococcus; Streptococcus pneumoniae caused disease or disorder; Streptococcus pneumoni
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: MFN2;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal