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 ..primary ovarian failure ()
Child Nodes:
........acquired primary ovarian failure ()
........autoimmune primary ovarian failure ()
........inherited primary ovarian failure ()
........premature menopause ()
........premature ovarian failure 10 ()
........premature ovarian failure 13 ()
........premature ovarian failure 14 ()
........premature ovarian failure 15 ()
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:	5387
Name:	primary ovarian failure
Definition:	Absent or premature cessation of ovarian function due to a pathologic process originating within the ovaries.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	female hypergonadotropic hypogonadism; hypergonadotrophic ovarian failure; hypergonadotropic hypogonadism; hypergonadotropic hypogonadism (female); premature menopause; premature ovarian failure; premature ovarian insufficiency; primary female hypogonadism; primary ovarian failure; primary ovarian i
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: CD40LG;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal