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)
Parent Node: skin disease caused by bacterial infection (MONDO:0024295)
Parent Node: Treponema infectious disease (MONDO:0007000)
..Starting node ..pinta disease ()
Child Nodes:
Sister Nodes:
..pinta disease ()
..syphilis ()
..syphilitic encephalitis ()
..syphilitic meningitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	979
Name:	pinta disease
Definition:	An endemic bacterial infection caused by Treponema carateum. It is manifested with chronic cutaneous lesions. The early lesions consist of papules and erythematous plaques. The late lesions consist of hypochromic, achromic, hyperpigmented and atrophic lesions. The late skin lesions may cause destruction of bones and cartilage and produce disfiguring changes.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Azul; Carate; Empeines; endemic treponematosis caused by Treponema carateum; infection by Treponema carateum; Lota; Mal del pinto; pinta; Tina
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal