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: pyoderma (MONDO:0002922)
Parent Node: skin infection (MONDO:0021201)
..Starting node ..cutaneous diphtheria ()
Child Nodes:
Sister Nodes:
..cercarial dermatitis ()
..cutaneous diphtheria ()
..deep seated dermatophytosis ()
..Demodex folliculitis ()
..dermatophytosis ()
..erysipelas ()
..gonococcal keratitis ()
..herpes simplex dermatitis ()
..herpes zoster dermatitis ()
..impetigo ()
..infection by Trypanosoma gambiense ()
..Pthirus pubis infestation ()
..scabies ()
..tinea favosa ()
..tinea infection ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1479
Name:	cutaneous diphtheria
Definition:	A usually mild form of diphtheria characterized by infection of the skin by corynebacterium diphtheria and the resulting formation of a chronic, shallow ulcer that is sometimes bordered or followed by a bulla.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	cutaneous diphtheria
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: BRCA1;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal