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: ovarian disease (MONDO:0005558)
..Starting node ..ovarian stromal hyperthecosis ()
Child Nodes:
Sister Nodes:
..anovulation ()
..luteoma of pregnancy ()
..oophoritis ()
..ovarian cyst (disease) ()
..ovarian dysfunction ()
..ovarian ectopic pregnancy ()
..ovarian endometriosis ()
..ovarian hyperstimulation syndrome ()
..ovarian neoplasm ()
..ovarian remnant syndrome ()
..ovarian stromal hyperthecosis ()
..primary ovarian failure ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	4194
Name:	ovarian stromal hyperthecosis
Definition:	A non-neoplastic disorder that usually affects postmenopausal women. It is characterized by the leuteinization of ovarian stromal cells. The ovaries are bilaterally involved and enlarged. When it affects women in reproductive age, it causes virilization, high blood pressure, and increased insulin levels.
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Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal