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: endometriosis (disease) (MONDO:0005133)
Parent Node: ovarian disease (MONDO:0005558)
..Starting node ..ovarian endometriosis ()
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:	6337
Name:	ovarian endometriosis
Definition:	A non-neoplastic disorder characterized by the growth of endometrial tissue in the ovaries. It results in the development of blood filled ovarian cysts (chocolate cysts), and creation of scars and adhesions.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	endometriosis (disease) of ovary; endometriosis of ovary; ovarian endometriosis; ovary endometriosis (disease)
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal