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)
Parent Node: tetrasomy (MONDO:0030502)
..Starting node ..tetrasomy X ()
Child Nodes:
Sister Nodes:
..tetrasomy 12p ()
..tetrasomy 18p ()
..tetrasomy 21 ()
..tetrasomy 5p ()
..tetrasomy 9p ()
..tetrasomy X ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19525
Name:	tetrasomy X
Definition:	Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	48 XXXX; 48 XXXX syndrome; 48,XXXX syndrome; quadruple X; tetra X; tetrasomy type X
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal