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: congenital herpes virus infection (MONDO:0042971)
Parent Node: varicella zoster infection (MONDO:0005608)
..Starting node ..congenital varicella syndrome ()
Child Nodes:
Sister Nodes:
..chickenpox ()
..congenital varicella syndrome ()
..facial nerve palsy due to herpes zoster infection ()
..herpes zoster ()
..herpes zoster dermatitis ()
..herpetic vulvovaginitis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	17372
Name:	congenital varicella syndrome
Definition:	Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	antenatal varicella virus infection; fetal effects of chickenpox; fetal effects of varicella zoster virus; fetal varicella infection; fetal varicella zoster syndrome; mother-to-child transmission of varicella syndrome; Varicella embryopathy; Varicella virus antenatal infection
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal