Preferred Name |
Primary Ovarian Insufficiency |
|
Synonyms |
Hypergonadotropic Ovarian Failure, X Linked |
|
Definitions |
Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. The most commonly known genetic cause is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene. |
|
ID |
http://purl.bioontology.org/ontology/MESH/D016649 |
|
altLabel |
Hypergonadotropic Ovarian Failure, X Linked Gonadotropin-Resistant Ovary Syndrome Gonadotropin Resistant Ovary Syndrome Hypergonadotropic Ovarian Failure, X-Linked Ovarian Insufficiency, Primary FMR1-Related Primary Ovarian Insufficiency FMR1 Related Primary Ovarian Insufficiency Premature Ovarian Failure Premature Ovarian Failure, X Linked Fragile X Associated Primary Ovarian Insufficiency Premature Ovarian Failure, X-Linked Primary Ovarian Insufficiency, Fragile X Associated Fragile X Premature Ovarian Failure X Linked Hypergonadotropic Ovarian Failure Fragile X-Associated Primary Ovarian Insufficiency Resistant Ovary Syndrome Ovarian Failure, Premature X-Linked Hypergonadotropic Ovarian Failure Primary Ovarian Insufficiency, Fragile X-Associated Premature Ovarian Failure 1 |
|
AQL |
BL CF CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
cui |
C0086367 C3494522 C4552079 C0085215 |
|
DC |
1 |
|
definition |
Cessation of ovarian function after MENARCHE but before the age of 40, without or with OVARIAN FOLLICLE depletion. It is characterized by the presence of OLIGOMENORRHEA or AMENORRHEA, elevated GONADOTROPINS, and low ESTRADIOL levels. It is a state of female HYPERGONADOTROPIC HYPOGONADISM. Etiologies include genetic defects, autoimmune processes, chemotherapy, radiation, and infections. The most commonly known genetic cause is the expansion of a CGG repeat to 55 to 199 copies in the 5' untranslated region in the X-linked FMR1 gene. A form of ovarian failure, caused by resistance to GONADOTROPINS stimulation. It may be caused by defects in the receptors for FOLLICLE STIMULATING HORMONE or LUTEINIZING HORMONE. It may be due to factors interfering with the actions of gonadotropins, such as antibodies blocking the ligand-receptor interaction. |
|
DX |
19920101 |
|
FX |
D008594 |
|
HN |
2011(1992) |
|
Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
Inverse of RO | ||
Machine permutation |
2011; see Ovarian Failure, Premature 1992-2010 |
|
Mapped from |
http://purl.bioontology.org/ontology/MESH/C567838 http://purl.bioontology.org/ontology/MESH/C535272 http://purl.bioontology.org/ontology/MESH/C566921 http://purl.bioontology.org/ontology/MESH/C564476 http://purl.bioontology.org/ontology/MESH/C567351 http://purl.bioontology.org/ontology/MESH/C536064 |
|
MDA |
19910530 |
|
MMR |
20210630 |
|
MN |
C12.050.351.500.056.630.750 C19.391.630.750 C12.100.250.056.630.750 |
|
notation |
D016649 |
|
prefLabel |
Primary Ovarian Insufficiency |
|
TERMUI |
T811983 T810730 T049855 T841444 T049854 T810731 T608691 T811984 T811981 T049856 T845661 T841447 T767285 |
|
TH |
OMIM (2013) NLM (1992) GHR (2014) NLM (2006) NLM (2014) NLM (2011) |
|
tui |
T047 |
|
subClassOf |