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: female infertility due to an anomaly of ovarian function of genetic origin (MONDO:0018413)
Parent Node: inherited primary ovarian failure (MONDO:0019852)
Parent Node: polysomy of X chromosome (MONDO:0017002)
..Starting node ..trisomy X ()
Child Nodes:
Sister Nodes:
..pentasomy X ()
..tetrasomy X ()
..trisomy X ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18066
Name:	trisomy X
Definition:	Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	47 XXX syndrome; 47,XXX; 47,XXX syndrome; triple X syndrome; triple-X chromosome syndrome; triple-X female; Triplo X syndrome; Triplo-X syndrome; trisomy type X; trisomy X; XXX syndrome
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal