MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: primary bacterial infectious disease (MONDO:0000314)
..Starting node ..diphtheria ()
Child Nodes:
........anterior nasal diphtheria ()
........diphtheritic myocarditis ()
........faucial diphtheria ()
........laryngeal diphtheria ()
........nasopharyngeal diphtheria ()
........pseudomembranous diphtheritic conjunctivitis ()
Sister Nodes:
..anthrax infection ()
..bartonellosis ()
..botulism ()
..brucellosis ()
..Buruli ulcer disease ()
..campylobacteriosis ()
..chancroid ()
..cholera ()
..diphtheria ()
..ehrlichiosis ()
..glanders ()
..gonorrhea ()
..granuloma inguinale ()
..legionellosis ()
..leprosy ()
..leptospirosis ()
..listeriosis ()
..Lyme disease ()
..melioidosis ()
..mycobacterium avium complex disease ()
..ornithosis ()
..paratyphoid fever ()
..pinta disease ()
..plague ()
..Q fever ()
..relapsing fever ()
..rhinoscleroma ()
..salmonellosis ()
..shigellosis ()
..spirillary rat-bite fever ()
..staphyloenterotoxemia ()
..streptobacillary rat-bite fever ()
..syphilis ()
..tetanus ()
..tuberculosis ()
..tularemia ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5504
Name:	diphtheria
Definition:	A Gram-positive bacterial infection caused by Corynebacterium diphtheriae. It usually involves the oral cavity, pharynx, and nasal cavity. Patients develop pseudomembranes in the affected areas and manifest signs and symptoms of an upper respiratory infection. The diphtheria toxin may cause myocarditis, polyneuritis, and other systemic effects.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Corynebacterium infection
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal