MCID: PRM196
MIFTS: 71

Premature Ovarian Failure 1

Categories: Genetic diseases, Endocrine diseases, Reproductive diseases

Aliases & Classifications for Premature Ovarian Failure 1

MalaCards integrated aliases for Premature Ovarian Failure 1:

Name: Premature Ovarian Failure 1 57 75 29 13 6 38
Premature Ovarian Failure 38 12 76 37 29 13 6 15
Hypergonadotropic Hypogonadism 12 29 55 6
Primary Ovarian Insufficiency 12 75 43 44
Ovarian Failure, Premature 57 40 73
Primary Ovarian Insufficiency, Fragile X-Associated 57 73
Hypergonadotropic Ovarian Failure, X-Linked 57 73
Premature Ovarian Insufficiency 12 6
Ovarian Failure Premature 75 55
Premature Menopause 12 73
Pof1 57 75
Pofx 57 75
Pof 57 75
Hypergonadotropic Ovarian Failure X-Linked 75
Premature Ovarian Failure, X-Linked; Pofx 57
Premature Ovarian Failure, X-Linked 57
Fragile X Premature Ovarian Failure 57
Premature Ovarian Failure X-Linked 75
Ovarian Failure, Premature, Type 1 40
Ovarian Failure, Premature; Pof 57
Hypogonadism, Hypergonadotropic 13
Primary Hypogonadism 73
Turner Syndrome 73
Poi 75

Characteristics:

OMIM:

57
Inheritance:
x-linked


HPO:

32
premature ovarian failure 1:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 311360
Disease Ontology 12 DOID:5426
ICD10 33 E28.3
MeSH 44 D016649
NCIt 50 C113352
KEGG 37 H00627
SNOMED-CT via HPO 69 80182007 263934009 373717006

Summaries for Premature Ovarian Failure 1

MedlinePlus : 43 What is primary ovarian insufficiency (POI)? Primary ovarian insufficiency (POI), also known as premature ovarian failure, happens when a woman's ovaries stop working normally before she is 40. Many women naturally experience reduced fertility when they are about 40 years old. They may start getting irregular menstrual periods as they transition to menopause. For women with POI, irregular periods and reduced fertility start before the age of 40. Sometimes it can start as early as the teenage years. POI is different from premature menopause. With premature menopause, your periods stop before age 40. You can no longer get pregnant. The cause can be natural or it can be a disease, surgery, chemotherapy, or radiation. With POI, some women still have occasional periods. They may even get pregnant. In most cases of POI, the cause is unknown. What are the risk factors for primary ovarian insufficiency (POI)? Certain factors can raise a woman's risk of POI: Family history. Women who have a mother or sister with POI are more likely to have it. Genes. Some changes to genes and genetic conditions put women at higher risk for POI. For example, women Fragile X syndrome or Turner syndrome are at higher risk. Certain diseases, such as autoimmune diseases and viral infections Cancer treatments, such as chemotherapy and radiation therapy Age. Younger women can get POI, but it becomes more common between the ages of 35-40. What causes primary ovarian insufficiency (POI)? In about 90 percent of cases, the exact cause of POI is unknown. Research shows that POI is related to problems with the follicles. Follicles are small sacs in your ovaries. Your eggs grow and mature inside them. One type of follicle problem is that you run out of working follicles earlier than normal. Another is that the follicles are not working properly. In most cases, the cause of the follicle problem is unknown. But sometimes the cause may be Genetic disorders such as Fragile X syndrome and Turner syndrome A low number of follicles Autoimmune diseases, including thyroiditis and Addison disease Chemotherapy or radiation therapy Metabolic disorders Toxins, such as cigarette smoke, chemicals, and pesticides What are the symptoms of primary ovarian insufficiency (POI)? The first sign of POI is usually irregular or missed periods. Later symptoms may be similar to those of natural menopause: Hot flashes Night sweats Irritability Poor concentration Decreased sex drive Pain during sex Vaginal dryness For many women with POI, trouble getting pregnant or infertility is the reason they go to their health care provider. What other problems can primary ovarian insufficiency (POI) cause? Since POI causes you to have lower levels of certain hormones, you are at greater risk for other health conditions, including Anxiety and depression. Hormonal changes caused by POI can contribute to anxiety or lead to depression. Dry eye syndrome and eye surface disease. Some women with POI have one of these eye conditions. Both can cause discomfort and may lead to blurred vision. If not treated, these conditions can cause permanent eye damage. Heart disease. Lower levels of estrogen can affect the muscles lining the arteries and can increase the buildup of cholesterol in the arteries. These factors increase your risk of atherosclerosis (hardening of the arteries). Infertility. Low thyroid function. This problem also is called hypothyroidism. The thyroid is a gland that makes hormones that control your body's metabolism and energy level. Low levels thyroid hormones can affect your metabolism and can cause very low energy, mental sluggishness, and other symptoms. Osteoporosis. The hormone estrogen helps keep bones strong. Without enough estrogen, women with POI often develop osteoporosis. It is a bone disease that causes weak, brittle bones that are more likely to break. How is primary ovarian insufficiency (POI) diagnosed? To diagnose POI, your health care provider may do A medical history, including asking whether you have relatives with POI A pregnancy test, to make sure that you are not pregnant A physical exam, to look for signs of other disorders which could be causing your symptoms Blood tests, to check for certain hormone levels. You may also have a blood test to do a chromosome analysis. A chromosome is the part of a cell that contains genetic information. A pelvic ultrasound, to see whether or not the ovaries are enlarged or have multiple follicles How is primary ovarian insufficiency (POI) treated? Currently, there is no proven treatment to restore normal function to a woman's ovaries. But there are treatments for some of the symptoms of POI. There are also ways to lower your health risks and treat the conditions that POI can cause: Hormone replacement therapy (HRT). HRT is the most common treatment. It gives your body the estrogen and other hormones that your ovaries are not making. HRT improves sexual health and decreases the risks for heart disease and osteoporosis. You usually take it until about age 50; that's about the age when menopause usually begins. Calcium and vitamin D supplements. Because women with POI are at higher risk for osteoporosis, you should take calcium and vitamin D every day. In vitro fertilization (IVF). If you have POI and you wish to become pregnant, you may consider trying IVF. Regular physical activity and a healthy body weight. Getting regular exercise and controlling your weight can lower your risk for osteoporosis and heart disease. Treatments for associated conditions. If you have a condition that is related to POI, it is important to treat that as well. Treatments may involve medicines and hormones. NIH: National Institute of Child Health and Human Development

MalaCards based summary : Premature Ovarian Failure 1, also known as premature ovarian failure, is related to hypogonadotropism and gonadal dysgenesis, and has symptoms including pelvic pain An important gene associated with Premature Ovarian Failure 1 is FMR1 (Fragile X Mental Retardation 1), and among its related pathways/superpathways are Calcium signaling pathway and Neuroactive ligand-receptor interaction. The drugs Progesterone and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include Adipose and Umbilical Cord, and related phenotypes are increased circulating gonadotropin level and menstrual irregularities

Disease Ontology : 12 An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40.

OMIM : 57 Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, 233300) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). (311360)

UniProtKB/Swiss-Prot : 75 Premature ovarian failure 1: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.

Wikipedia : 76 Premature ovarian failure (POF) is the loss of function of the ovaries before age 40. A commonly cited... more...

Related Diseases for Premature Ovarian Failure 1

Diseases in the Premature Ovarian Failure 2a family:

Premature Ovarian Failure 2b Premature Ovarian Failure 1
Premature Ovarian Failure 3 Premature Ovarian Failure 5
Premature Ovarian Failure 6 Premature Ovarian Failure 10
Premature Ovarian Failure 7 Premature Ovarian Failure 8
Premature Ovarian Failure 9 Premature Ovarian Failure 11
Premature Ovarian Failure 12 Premature Ovarian Failure 13
Premature Ovarian Failure 14

Diseases related to Premature Ovarian Failure 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropism 31.4 GNRH1 PRL
2 gonadal dysgenesis 31.1 BMP15 FOXL2 FSHR WT1
3 amenorrhea 30.9 BMP15 FSHR GNRH1 PRL SHBG
4 blepharophimosis, ptosis, and epicanthus inversus 30.8 FOXL2 FOXP2
5 infertility 30.6 CYP19A1 DAZL FSHR GNRH1 INHA PRL
6 cardiomyopathy, dilated, with hypergonadotropic hypogonadism 12.6
7 premature ovarian failure 3 12.6
8 premature menopause 12.4
9 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism 12.4
10 polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 12.2
11 hypergonadotropic hypogonadism and partial alopecia 12.1
12 alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism 12.1
13 cerebellar ataxia and hypergonadotropic hypogonadism 12.1
14 microcephaly hypergonadotropic hypogonadism short stature 12.1
15 postorgasmic illness syndrome 12.0
16 leydig cell hypoplasia 11.7
17 galactosemia 11.4
18 aromatase deficiency 11.4
19 leydig cell hypoplasia, type i 11.4
20 fmr1-related primary ovarian insufficiency 11.3
21 marinesco-sjogren syndrome 11.2
22 short stature, microcephaly, and endocrine dysfunction 11.2
23 uterine hypoplasia 11.1 BMP15 MCM9
24 twinning, dizygotic 11.1 FSHR INHA
25 autoimmune oophoritis 11.1
26 hypogonadism-cataract syndrome 11.1
27 hypogonadism, male, with mental retardation and skeletal anomalies 11.1
28 precocious puberty, male-limited 11.0 CYP19A1 FSHR
29 oocyte maturation defect 1 11.0 BMP15 CYP19A1
30 pituitary infarct 11.0 GNRH1 PRL
31 hutchinson-gilford progeria syndrome 11.0
32 richards-rundle syndrome 11.0
33 nijmegen breakage syndrome 11.0
34 ovarian dysgenesis 2 11.0
35 ovarian dysgenesis 3 11.0
36 ovarian dysgenesis 4 11.0
37 ovarian dysgenesis 5 11.0
38 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 11.0
39 lubinsky syndrome 11.0
40 hypogonadotropic hypogonadism 23 without anosmia 11.0 FSHR GNRH1
41 hypoactive sexual desire disorder 11.0 CYP19A1 SHBG
42 endometriosis of uterus 11.0 GNRH1 PRL
43 granulosa cell tumor of the ovary 11.0 FOXL2 INHA PRL
44 estrogen excess 11.0 CYP19A1 FSHR SHBG
45 androgen insensitivity, partial 11.0 CYP19A1 SHBG
46 hypothalamic disease 11.0 GNRH1 PRL
47 androgenic alopecia 11.0 CYP19A1 PRL SHBG
48 freemartinism 11.0 BMP15 GNRH1
49 premenstrual tension 10.9 GNRH1 PRL SHBG
50 chiasmal syndrome 10.9 GNRH1 PRL

Graphical network of the top 20 diseases related to Premature Ovarian Failure 1:



Diseases related to Premature Ovarian Failure 1

Symptoms & Phenotypes for Premature Ovarian Failure 1

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
cessation of menstruation before 40 years of age
premature ovarian failure

Endocrine Features:
premature ovarian failure


Clinical features from OMIM:

311360

Human phenotypes related to Premature Ovarian Failure 1:

32
# Description HPO Frequency HPO Source Accession
1 increased circulating gonadotropin level 32 HP:0000837
2 menstrual irregularities 32 HP:0000858
3 abnormality of metabolism/homeostasis 32 HP:0001939
4 premature ovarian insufficiency 32 HP:0008209

UMLS symptoms related to Premature Ovarian Failure 1:


pelvic pain

MGI Mouse Phenotypes related to Premature Ovarian Failure 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.21 MCM9 NBN PRL STAR WT1 BMP15
2 homeostasis/metabolism MP:0005376 10.07 CYP11A1 CYP19A1 FOXL2 FSHR GALT GDF9
3 growth/size/body region MP:0005378 10.06 CYP11A1 FMR1 FOXL2 FSHR GNRH1 INHA
4 liver/biliary system MP:0005370 9.7 INHA MCM9 PRL WT1 CYP11A1 CYP19A1
5 neoplasm MP:0002006 9.5 FSHR GNRH1 INHA MCM9 NBN PRL
6 reproductive system MP:0005389 9.47 BMP15 CYP11A1 CYP19A1 FMR1 FOXL2 FSHR

Drugs & Therapeutics for Premature Ovarian Failure 1

Drugs for Premature Ovarian Failure 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 188)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Progesterone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 57-83-0 5994
2
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 979-32-8
4
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Not Applicable 57-63-6 5991
5
Norethindrone Approved Phase 4,Phase 2,Phase 3,Not Applicable 68-22-4 6230
6
Polyestradiol phosphate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 28014-46-2
7
Ganirelix Approved Phase 4 123246-29-7, 124904-93-4 25081094
8
Leuprolide Approved, Investigational Phase 4,Phase 2 53714-56-0 3911 657181
9
Dopamine Approved Phase 4,Not Applicable 51-61-6, 62-31-7 681
10
Lenograstim Approved, Investigational Phase 4 135968-09-1
11
Lactitol Investigational Phase 4 585-86-4 3871
12 Deslorelin Investigational, Vet_approved Phase 4,Phase 2,Phase 3 57773-65-6
13 Estrogens Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
14 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1
16 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
17 Contraceptive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 Contraceptives, Oral Phase 4,Phase 2,Phase 3,Not Applicable
19 Estradiol 17 beta-cypionate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
20 Estradiol 3-benzoate Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
21 Norethindrone acetate Phase 4,Phase 2,Phase 3,Not Applicable
22 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
23 Norinyl Phase 4
24 Progestins Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1
25 Antineoplastic Agents, Hormonal Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Luteolytic Agents Phase 4,Phase 2,Phase 3,Not Applicable
27 Triptorelin Pamoate Phase 4,Phase 2,Phase 3,Not Applicable
28 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
29 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
30 Central Nervous System Stimulants Phase 4,Phase 1,Phase 2,Not Applicable
31 Dopamine Agents Phase 4,Not Applicable
32 Dopamine Uptake Inhibitors Phase 4,Not Applicable
33 Lisdexamfetamine Dimesylate Phase 4,Not Applicable
34 Neurotransmitter Uptake Inhibitors Phase 4,Not Applicable
35
Testosterone Approved, Investigational Phase 3,Phase 2,Phase 1 58-22-0 6013
36
Cyclophosphamide Approved, Investigational Phase 3,Phase 2 50-18-0, 6055-19-2 2907
37
Goserelin Approved Phase 3 65807-02-5 47725 5311128
38
Docetaxel Approved, Investigational Phase 3 114977-28-5 148124
39
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
40
Epirubicin Approved Phase 3 56420-45-2 41867
41
Fluorouracil Approved Phase 3 51-21-8 3385
42
Methotrexate Approved Phase 3 1959-05-2, 59-05-2 126941
43
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
44
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
45
Gabapentin Approved, Investigational Phase 3 60142-96-3 3446
46
gamma-Aminobutyric acid Approved, Investigational Phase 3 56-12-2 119
47
Medroxyprogesterone acetate Approved, Investigational Phase 3,Phase 2 71-58-9
48
Methyltestosterone Approved Phase 3,Phase 1,Phase 2 58-18-4 6010
49
Oxandrolone Approved, Investigational Phase 3,Phase 2 53-39-4 5878
50
Testosterone enanthate Approved Phase 3,Phase 1,Phase 2 315-37-7 9416

Interventional clinical trials:

(show top 50) (show all 194)
# Name Status NCT ID Phase Drugs
1 Effects of ADSC Therapy in Women With POF Unknown status NCT01853501 Phase 4
2 Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure Completed NCT00732693 Phase 4 Ethinylestradiol / Norethisterone;Estradiol / Progesterone
3 Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders Completed NCT00417066 Phase 4 Ganirelix 0.25mg (Orgalutran, Organon, The Netherlands);Arvekap 0.1mg (Triptorelin, Ipsen, France)
4 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
5 Long-Term Growth and Skeletal Effects of Early Growth Hormone Treatment in Turner Syndrome Completed NCT00266656 Phase 4 Humatrope
6 Defining the Optimal Hormonal Replacement Therapy in Turner Syndrome Completed NCT00134745 Phase 4 estradiol
7 Growth Response in Girls With Turner Syndrome Completed NCT01734486 Phase 4 somatropin;somatropin
8 Safety of Somatropin and Induction of Puberty With 17-beta-oestradiol in Girls With Turner Syndrome Completed NCT01518062 Phase 4 somatropin;somatropin;somatropin;oestrogen
9 Growth Hormone Treatment for the Prevention of Short Stature in Young Girls With Turner Syndrome Before the Age of 4 Years Completed NCT01066052 Phase 4
10 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
11 Predictive Markers in Growth Hormone Deficiency (GHD) and Turner Syndrome (TS) Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
12 Norditropin NordiFlex® Device Compared to the Device Previously Used by Patients or Parents Completed NCT01245374 Phase 4
13 IMProving Executive Function Study Recruiting NCT03187353 Phase 4 Lisdexamfetamine;Placebo oral capsule
14 Evaluation of the Ease of Use, Preference, and Safety of EutropinPen Inj. Recruiting NCT03015909 Phase 4 Somatropin
15 Filgrastim for Premature Ovarian Insufficiency Active, not recruiting NCT02783937 Phase 4 Saline
16 Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure Not yet recruiting NCT03535480 Phase 4 G-CSF
17 Effect of Cetrorelex Acetate on Ovarian Function in Women Undergoing Chemotherapy Withdrawn NCT00507780 Phase 4 GnRH antagonist
18 Efficiency of Gonadotropin-releasing Hormone (GnRH) Agonist in Preventing Chemotherapy Induced Ovarian Failure Completed NCT01160315 Phase 2, Phase 3 Triptorelin;Norethisterone acetate
19 Goserelin in Preventing Early Menopause in Premenopausal Women Undergoing Chemotherapy for Stage I, Stage II, or Stage III Breast Cancer Completed NCT00427245 Phase 3 cyclophosphamide;goserelin acetate
20 Triptorelin in Preventing Early Menopause in Premenopausal Women Who Are Receiving Chemotherapy for Stage I, Stage II, or Stage III Breast Cancer That Has Been Removed By Surgery Completed NCT00311636 Phase 3 cyclophosphamide;docetaxel;doxorubicin hydrochloride;epirubicin hydrochloride;fluorouracil;methotrexate;paclitaxel;triptorelin
21 S0230 Goserelin in Preventing Ovarian Failure in Women Receiving Chemotherapy for Breast Cancer Completed NCT00068601 Phase 3 cyclophosphamide;goserelin acetate
22 Administration During Chemotherapy to Reduce Ovarian Failure Following Chemotherapy in Early Stage, Hormone-Receptor Negative Breast Cancer Completed NCT01530607 Phase 3 Standard cyclophosphamide;Goserelin (Zoladex)
23 Estrogen Treatment (Oral vs. Patches) in Turner Syndrome Completed NCT00140998 Phase 3 17 beta estradiol
24 Pilot Study Comparing Hypnotherapy and Gabapentin for Hot Flashes. Completed NCT00711529 Phase 3 gabapentin
25 An Open-Label, Multi-centre, Phase III Study of Local Tolerability of ZOMACTON 10MG Completed NCT00250250 Phase 3 ZOMACTON
26 The Effect of Growth Hormone in Very Young Girls With Turner Syndrome Completed NCT00406926 Phase 3 Somatropin
27 Somatropin Treatment to Final Height in Turner Syndrome Completed NCT00191113 Phase 3 Somatropin;Ethinyl estradiol;Medroxyprogesterone acetate
28 The Effect of Androgen and Growth Hormone on Height and Learning in Girls With Turner Syndrome Completed NCT00029159 Phase 3 estrogen;androgen
29 Combination Chemotherapy in Treating Young Patients With Hodgkin's Lymphoma Completed NCT00433459 Phase 3 cyclophosphamide;dacarbazine;prednisolone;prednisone;procarbazine hydrochloride;vincristine sulfate
30 Induction of Puberty With 17-beta Estradiol in Girls With Turner Syndrome Completed NCT01710696 Phase 3 17-beta estradiol;17-beta estradiol
31 Use of Somatropin in Turner Syndrome Completed NCT01518036 Phase 3 somatropin;somatropin
32 Evaluating Acceptance of New Liquid Somatropin Formulation in Children With Growth Hormone Deficiency Completed NCT01563926 Phase 3 somatropin
33 Study to Define Optimal IGF-1 Monitoring in Children Treated With NutropinAq Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
34 Hormone Replacement for Premature Ovarian Insufficiency Recruiting NCT02922348 Phase 3 Hormone Replacement Therapy;Combined Oral Contraceptives
35 Primary Ovarian Insufficiency: Phenotype and Optimal Treatment Recruiting NCT03568708 Phase 3 Transdermal Estrogen
36 A Clinical Study to Assess the Efficacy and Safety of DA-3002 Active, not recruiting NCT01813630 Phase 3 DA-3002;Genotropin®
37 Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) Terminated NCT00948857 Phase 2, Phase 3
38 Effect of Exercise and Phytoestrogen on Bone, Metabolic Syndrome Criteria and Complaints of the Early Menopause Terminated NCT00663104 Phase 3
39 Study of Oral Dehydroepiandrosterone(DHEA) to Treat Previously Unexplained Infertility Terminated NCT00650754 Phase 2, Phase 3
40 Goserelin Acetate Study for Ovarian Function in Patients With Primary Breast Cancer Terminated NCT00429403 Phase 3 Goserelin
41 Stem Cell Therapy Combined Hormone Replacement Therapy in Patients With Premature Ovarian Failure Unknown status NCT01742533 Phase 1, Phase 2 Hormone Replacement Therapy
42 Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure Unknown status NCT02062931 Phase 1, Phase 2
43 Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure Unknown status NCT02043743 Phase 1, Phase 2
44 Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure Completed NCT02151890 Phase 1, Phase 2
45 "It is a Real" The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure Completed NCT02372474 Phase 1, Phase 2
46 Chinese Medicine(Hu Yang Yang Kun Formula) for Primary Ovarian Insufficiency Completed NCT02794948 Phase 1, Phase 2
47 Hormone Replacement in Young Women With Premature Ovarian Failure Completed NCT00001951 Phase 2 TMTDS
48 GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients Completed NCT00429494 Phase 2 Leuprolide Acetate
49 Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome Completed NCT00004275 Phase 2 growth hormone;oxandrolone
50 The Effects of Hormones in Growth Hormone-Treated Girls With Turner Syndrome Completed NCT00001343 Phase 2 Humatrope;Oxandrolone

Search NIH Clinical Center for Premature Ovarian Failure 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Premature Ovarian Failure 1 cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: primary ovarian insufficiency

Genetic Tests for Premature Ovarian Failure 1

Genetic tests related to Premature Ovarian Failure 1:

# Genetic test Affiliating Genes
1 Premature Ovarian Failure 1 29 FMR1
2 Premature Ovarian Failure 29
3 Hypergonadotropic Hypogonadism 29

Anatomical Context for Premature Ovarian Failure 1

MalaCards organs/tissues related to Premature Ovarian Failure 1:

41
Ovary, Bone, Eye, Testes, Thyroid, Heart, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Premature Ovarian Failure 1:
# Tissue Anatomical CompartmentCell Relevance
1 Adipose Subcutaneous White Adipose Mesenchymal Stem Cells Potential therapeutic candidate
2 Umbilical Cord Wharton's Jelly Mesenchymal Stem Cells Potential therapeutic candidate
3 Ovary Ovigerous Cord Ovum Potential therapeutic candidate, affected by disease
4 Ovary Primary Follicle Primary Oocyte Potential therapeutic candidate, affected by disease
5 Ovary Primordial Follicle Primary Oocyte Potential therapeutic candidate, affected by disease
6 Ovary Antral Follicle Secondary Oocyte Potential therapeutic candidate, affected by disease
7 Adipose Subcutaneous White Adipose Stromal Cells Potential therapeutic candidate

Publications for Premature Ovarian Failure 1

Articles related to Premature Ovarian Failure 1:

(show top 50) (show all 630)
# Title Authors Year
1
Chronic cholestasis is associated with hypogonadism and premature ovarian failure in adult rats (cholestasis causes ovarian hypogonadism). ( 29297778 )
2018
2
Irreversible primary amenorrhea secondary to uterine damage and premature ovarian failure in Ewing's sarcoma in two patients. ( 29857112 )
2018
3
Ginsenoside Rg1 improves fertility and reduces ovarian pathological damages in premature ovarian failure model of mice. ( 28178855 )
2017
4
Deriving cells expressing markers of female germ cells from premature ovarian failure patient-specific induced pluripotent stem cells. ( 28244827 )
2017
5
Premature Ovarian Failure - An Unusual Manifestation of Systemic Sclerosis. ( 28479757 )
2017
6
Effects of Bushen Tianjing Recipe in a rat model of tripterygium glycoside-induced premature ovarian failure. ( 28439292 )
2017
7
The potentiality of two-dimensional preantral follicle culture as an in vitro model in predicting premature ovarian failure. ( 28483347 )
2017
8
Gonadotropin-releasing hormone analogues for the prevention of chemotherapy-induced premature ovarian failure in breast cancer patients. ( 28398024 )
2017
9
Physical training promotes similar effects to the blockade of angiotensin-converting enzyme on the cardiac morphology and function in old female rats subjected to premature ovarian failure. ( 28408160 )
2017
10
A general description for Chinese medicine in treating premature ovarian failure. ( 28265850 )
2017
11
BMP15 and GDF9 Gene Mutations in Premature Ovarian Failure. ( 28377898 )
2017
12
Study of the reparative effects of menstrual-derived stem cells on premature ovarian failure in mice. ( 28114977 )
2017
13
Learning disability in a son and premature ovarian failure as clinical pointers to identify a premutation on the X chromosome in a female with long-standing tremor. ( 28641937 )
2017
14
Role of SDF-1/CXCR4 and cytokines in the development of ovary injury in chemotherapy drug induced premature ovarian failure mice. ( 28478265 )
2017
15
Very low doses of heavy oxygen ion radiation induce premature ovarian failure. ( 28528322 )
2017
16
Cyclophosphamide promotes the proliferation inhibition of mouse ovarian granulosa cells and premature ovarian failure by activating the lncRNA-Meg3-p53-p66Shc pathway. ( 27729272 )
2017
17
Premature Ovarian Failure in French Canadian Leigh Syndrome. ( 28284481 )
2017
18
Human Umbilical Cord Mesenchymal Stem Cells Therapy in Cyclophosphamide-Induced Premature Ovarian Failure Rat Model. ( 27047962 )
2016
19
Telocytes as potential targets in a cyclophosphamide-induced animal model of premature ovarian failure. ( 27485835 )
2016
20
TRADITIONAL CHINESE MEDICINE COMBINED WITH HORMONE THERAPY TO TREAT PREMATURE OVARIAN FAILURE: A META-ANALYSIS OF RANDOMIZED CONTROLLED TRIALS. ( 28487907 )
2016
21
FMR1 premutation: not only important in premature ovarian failure but also in diminished ovarian reserve. ( 27876427 )
2016
22
Hydrogen-rich Water Exerting a Protective Effect on Ovarian Reserve Function in a Mouse Model of Immune Premature Ovarian Failure Induced by Zona Pellucida 3. ( 27647193 )
2016
23
Autoimmune premature ovarian failure. ( 28250725 )
2016
24
Variation analysis of EXO1 gene in Chinese patients with premature ovarian failure. ( 26774993 )
2016
25
Next generation sequencing identifies abnormal Y chromosome and candidate causal variants in premature ovarian failure patients. ( 27989800 )
2016
26
Copy number variation analysis detects novel candidate genes involved in follicular growth and oocyte maturation in a cohort of premature ovarian failure cases. ( 27301361 )
2016
27
Premature Ovarian Failure: An Association with Autoimmune Diseases. ( 27891401 )
2016
28
Growth hormone treatment of premature ovarian failure in a mouse model via stimulation of the Notch-1 signaling pathway. ( 27347041 )
2016
29
Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis. ( 27841182 )
2016
30
Effect of melatonin on the peripheral T lymphocyte cell cycle and levels of reactive oxygen species in patients with premature ovarian failure. ( 28105091 )
2016
31
Prevalence of premature ovarian failure in systemic lupus erythematosus patients treated with immunosuppressive agents in Thailand. ( 26621134 )
2016
32
The Role of Premature Ovarian Failure Awareness in Female Sexual Functions and Distress. ( 27015038 )
2016
33
Association between premature ovarian failure, polymorphisms in MTHFR and MTRR genes and serum homocysteine concentration. ( 26874989 )
2016
34
The Use of Thiol/Disulfide as a Novel Marker in Premature Ovarian Failure. ( 27064983 )
2016
35
Transplantation of ovarian granulosaa89like cells derived from human induced pluripotent stem cells for the treatment of murine premature ovarian failure. ( 27121006 )
2016
36
Letter to the Editor - DTC chemotherapy regimen is associated with higher incidence of premature ovarian failure in women of reproductive age with breast cancer. ( 27775808 )
2016
37
Vitamin D Levels in Patients with Premature Ovarian Failure. ( 27306466 )
2016
38
The comparison of animal models for premature ovarian failure established by several different source of inducers. ( 27612992 )
2016
39
Resveratrol inhibits inflammatory signaling implicated in ionizing radiation-induced premature ovarian failure through antagonistic crosstalk between silencing information regulator 1 (SIRT1) and poly(ADP-ribose) polymerase 1 (PARP-1). ( 26827941 )
2016
40
Hormone Replacement Therapy Versus the Combined Oral Contraceptive Pill in Premature Ovarian Failure: A Randomized Controlled Trial of the Effects on Bone Mineral Density. ( 27340881 )
2016
41
Human umbilical cord blood-mesenchymal stem cells transplantation renovates the ovarian surface epithelium in a rat model of premature ovarian failure: Possible direct and indirect effects. ( 27233913 )
2016
42
Effect and mechanism of Bushen Huoxue recipe on ovarian reserve in mice with premature ovarian failure. ( 27465335 )
2016
43
DTC chemotherapy regimen is associated with higher incidence of premature ovarian failure in women of reproductive age with breast cancer. ( 27049261 )
2016
44
Activation of dormant follicles: a new treatment for premature ovarian failure? ( 27022685 )
2016
45
Analysis of FMR1 gene premutation and X chromosome cytogenetic abnormalities in 100 Tunisian patients presenting premature ovarian failure. ( 26593861 )
2015
46
Novel WT1 Missense Mutations in Han Chinese Women with Premature Ovarian Failure. ( 26358501 )
2015
47
The screening of HELQ gene in Chinese patients with premature ovarian failure. ( 26190809 )
2015
48
Human endometrial mesenchymal stem cells restore ovarian function through improving the renewal of germline stem cells in a mouse model of premature ovarian failure. ( 25964118 )
2015
49
Low Expression of Mfn2 Is Associated with Mitochondrial Damage and Apoptosis of Ovarian Tissues in the Premature Ovarian Failure Model. ( 26327438 )
2015
50
Comparison of Specificity and Sensitivity of AMH and FSH in Diagnosis of Premature Ovarian Failure. ( 26113766 )
2015

Variations for Premature Ovarian Failure 1

ClinVar genetic disease variations for Premature Ovarian Failure 1:

6
(show top 50) (show all 392)
# Gene Variation Type Significance SNP ID Assembly Location
1 FMR1 FMR1, (CGG)n EXPANSION NT expansion Pathogenic
2 MCM9 NM_017696.2(MCM9): c.1533C> A (p.Tyr511Ter) single nucleotide variant not provided rs587777873 GRCh38 Chromosome 6, 118828126: 118828126
3 MCM9 NM_017696.2(MCM9): c.1533C> A (p.Tyr511Ter) single nucleotide variant not provided rs587777873 GRCh37 Chromosome 6, 119149289: 119149289
4 MCM9 NM_017696.2(MCM9): c.1732+2T> C single nucleotide variant Pathogenic rs587777871 GRCh38 Chromosome 6, 118827925: 118827925
5 MCM9 NM_017696.2(MCM9): c.1732+2T> C single nucleotide variant Pathogenic rs587777871 GRCh37 Chromosome 6, 119149088: 119149088
6 MCM9 NM_017696.2(MCM9): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs587777872 GRCh38 Chromosome 6, 118924038: 118924038
7 MCM9 NM_017696.2(MCM9): c.394C> T (p.Arg132Ter) single nucleotide variant Pathogenic rs587777872 GRCh37 Chromosome 6, 119245203: 119245203
8 AADAC; AADACL2-AS1 GRCh37/hg19 3q25.1(chr3: 151514590-151574286)x1 deletion Benign GRCh38 Chromosome 3, 151796802: 151856498
9 AADAC; AADACL2-AS1 GRCh37/hg19 3q25.1(chr3: 151514590-151574286)x1 deletion Benign GRCh37 Chromosome 3, 151514590: 151574286
10 NOBOX NM_001080413.3(NOBOX): c.349C> T (p.Arg117Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs7800847 GRCh38 Chromosome 7, 144401541: 144401541
11 NOBOX NM_001080413.3(NOBOX): c.349C> T (p.Arg117Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs7800847 GRCh37 Chromosome 7, 144098634: 144098634
12 FIGLA NM_001004311.3(FIGLA): c.*5T> A single nucleotide variant Benign rs56135050 GRCh37 Chromosome 2, 71004494: 71004494
13 FIGLA NM_001004311.3(FIGLA): c.*5T> A single nucleotide variant Benign rs56135050 GRCh38 Chromosome 2, 70777362: 70777362
14 FIGLA NM_001004311.3(FIGLA): c.*7A> G single nucleotide variant Benign rs56316086 GRCh37 Chromosome 2, 71004492: 71004492
15 FIGLA NM_001004311.3(FIGLA): c.*7A> G single nucleotide variant Benign rs56316086 GRCh38 Chromosome 2, 70777360: 70777360
16 AGBL4; BEND5 GRCh37/hg19 1p33(chr1: 49100192-50081573)x1 copy number loss Uncertain significance GRCh37 Chromosome 1, 49100192: 50081573
17 PATJ GRCh37/hg19 1p31.3(chr1: 62212822-62422442)x1 copy number loss Uncertain significance GRCh37 Chromosome 1, 62212822: 62422442
18 GRCh37/hg19 1p21.1(chr1: 102673499-102843725)x1 copy number loss Benign GRCh37 Chromosome 1, 102673499: 102843725
19 SYT6 GRCh37/hg19 1p13.2(chr1: 114616228-114720018)x1 copy number loss Benign GRCh37 Chromosome 1, 114616228: 114720018
20 CFH; CFHR1; CFHR3; CFHR4 GRCh37/hg19 1q31.3(chr1: 196712596-196882038)x1 copy number loss Benign GRCh37 Chromosome 1, 196712596: 196882038
21 FMN2 GRCh37/hg19 1q43(chr1: 240371821-240561727)x1 copy number loss Uncertain significance GRCh37 Chromosome 1, 240371821: 240561727
22 PLD5 GRCh37/hg19 1q43(chr1: 242529469-242554564)x1 copy number loss Benign GRCh37 Chromosome 1, 242529469: 242554564
23 GRCh37/hg19 2p22.3(chr2: 35398456-35666876)x1 copy number loss Benign GRCh37 Chromosome 2, 35398456: 35666876
24 GRCh37/hg19 2p22.3(chr2: 35819686-36087642)x1 copy number loss Benign GRCh37 Chromosome 2, 35819686: 36087642
25 ALMS1; NAT8 GRCh37/hg19 2p13.1(chr2: 73828493-73900329)x1 copy number loss Pathogenic GRCh37 Chromosome 2, 73828493: 73900329
26 GRCh37/hg19 2q14.3(chr2: 124242527-124306147)x1 copy number loss Benign GRCh37 Chromosome 2, 124242527: 124306147
27 OSBPL6 GRCh37/hg19 2q31.2(chr2: 179071826-179188986)x1 copy number loss Benign GRCh37 Chromosome 2, 179071826: 179188986
28 GRCh37/hg19 2q37.3(chr2: 242917734-243034519)x0 copy number loss Benign GRCh37 Chromosome 2, 242917734: 243034519
29 GRCh37/hg19 3p24.2(chr3: 26021365-26121843)x1 copy number loss Benign GRCh37 Chromosome 3, 26021365: 26121843
30 FHIT GRCh37/hg19 3p14.2(chr3: 60089314-60237710)x1 copy number loss Benign GRCh37 Chromosome 3, 60089314: 60237710
31 GRCh37/hg19 3p12.3(chr3: 75419736-75636449)x1 copy number loss Benign GRCh37 Chromosome 3, 75419736: 75636449
32 CADM2 GRCh37/hg19 3p12.1(chr3: 85477017-85608137)x1 copy number loss Benign GRCh37 Chromosome 3, 85477017: 85608137
33 GRAMD1C GRCh37/hg19 3q13.31(chr3: 113576202-113620344)x1 copy number loss Benign GRCh37 Chromosome 3, 113576202: 113620344
34 UGT2B15 GRCh37/hg19 4q13.2(chr4: 69492319-69512654)x1 copy number loss Benign GRCh37 Chromosome 4, 69492319: 69512654
35 SPATA4; WDR17 GRCh37/hg19 4q34.2(chr4: 177006043-177109326)x1 copy number loss Uncertain significance GRCh37 Chromosome 4, 177006043: 177109326
36 GRCh37/hg19 4q35.2(chr4: 188088282-188269838)x1 copy number loss Benign GRCh37 Chromosome 4, 188088282: 188269838
37 GTF2H2C; MARVELD2; OCLN GRCh37/hg19 5q13.2(chr5: 68720419-68875627)x1 copy number loss Benign GRCh37 Chromosome 5, 68720419: 68875627
38 GRCh37/hg19 5q14.3(chr5: 84386904-84543864)x1 copy number loss Benign GRCh37 Chromosome 5, 84386904: 84543864
39 GRCh37/hg19 5q15(chr5: 96523921-96663347)x1 copy number loss Benign GRCh37 Chromosome 5, 96523921: 96663347
40 GRCh37/hg19 5q15(chr5: 97048466-97099320)x1 copy number loss Benign GRCh37 Chromosome 5, 97048466: 97099320
41 GRCh37/hg19 5q22.3(chr5: 113503422-113616993)x1 copy number loss Benign GRCh37 Chromosome 5, 113503422: 113616993
42 KCNQ5; KHDC1L GRCh37/hg19 6q13(chr6: 73697858-73935015)x1 copy number loss Uncertain significance GRCh37 Chromosome 6, 73697858: 73935015
43 GRCh37/hg19 6q14.1(chr6: 78972930-79029367)x0 copy number loss Benign GRCh37 Chromosome 6, 78972930: 79029367
44 GRCh37/hg19 6q14.1(chr6: 79029649-79086086)x0 copy number loss Benign GRCh37 Chromosome 6, 79029649: 79086086
45 PRKN GRCh37/hg19 6q26(chr6: 162093140-162459571)x1 copy number loss Benign GRCh37 Chromosome 6, 162093140: 162459571
46 SNX8 GRCh37/hg19 7p22.3(chr7: 2302956-2377332)x1 copy number loss Uncertain significance GRCh37 Chromosome 7, 2302956: 2377332
47 BBS9 GRCh37/hg19 7p14.3(chr7: 33639870-33730376)x1 copy number loss Uncertain significance GRCh37 Chromosome 7, 33639870: 33730376
48 ZNF92 GRCh37/hg19 7q11.21(chr7: 64727862-64964510)x1 copy number loss Benign GRCh37 Chromosome 7, 64727862: 64964510
49 GRCh37/hg19 7q11.23(chr7: 76289033-76557212)x1 copy number loss Benign GRCh37 Chromosome 7, 76289033: 76557212
50 GRCh37/hg19 7q31.1(chr7: 109782499-109987031)x1 copy number loss Benign GRCh37 Chromosome 7, 109782499: 109987031

Copy number variations for Premature Ovarian Failure 1 from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 255082 9 72339785 73251640 Duplication TRPM3 Primary ovarian insufficiency
2 257158 X 1 4300000 Duplication PRKX Premature ovarian failure
3 258989 X 129800000 154913754 Copy number Premature ovarian failure
4 261305 X 17100000 56600000 Copy number Premature ovarian failure
5 265094 X 73800000 76000000 Duplication ABCB7 Premature ovarian failure
6 265095 X 73800000 76000000 Duplication ZDHHC15 Premature ovarian failure
7 265096 X 73800000 84500000 Copy number Premature ovarian failure

Expression for Premature Ovarian Failure 1

Search GEO for disease gene expression data for Premature Ovarian Failure 1.

Pathways for Premature Ovarian Failure 1

Pathways related to Premature Ovarian Failure 1 according to KEGG:

37
# Name Kegg Source Accession
1 Calcium signaling pathway hsa04020
2 Neuroactive ligand-receptor interaction hsa04080
3 Regulation of actin cytoskeleton hsa04810

GO Terms for Premature Ovarian Failure 1

Biological processes related to Premature Ovarian Failure 1 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.96 BMP15 GDF9 GNRH1 INHA PRL
2 BMP signaling pathway GO:0030509 9.77 BMP15 GDF9 INHA
3 steroid biosynthetic process GO:0006694 9.71 CYP11A1 CYP19A1 STAR
4 SMAD protein signal transduction GO:0060395 9.7 BMP15 GDF9 INHA
5 cell development GO:0048468 9.69 BMP15 GDF9 INHA
6 response to peptide hormone GO:0043434 9.67 EIF2B2 GNRH1 STAR
7 male gonad development GO:0008584 9.67 FSHR INHA STAR WT1
8 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.61 BMP15 GDF9 INHA
9 gonad development GO:0008406 9.59 FSHR WT1
10 estrogen biosynthetic process GO:0006703 9.58 CYP19A1 STAR
11 C21-steroid hormone biosynthetic process GO:0006700 9.58 CYP11A1 STAR
12 cellular response to follicle-stimulating hormone stimulus GO:0071372 9.57 FSHR STAR
13 cellular response to gonadotropin stimulus GO:0071371 9.55 STAR WT1
14 female gonad development GO:0008585 9.5 CYP19A1 FOXL2 FSHR
15 testosterone biosynthetic process GO:0061370 9.48 CYP19A1 STAR
16 positive regulation of follicle-stimulating hormone secretion GO:0046881 9.46 FOXL2 INHA
17 regulation of MAPK cascade GO:0043408 9.46 BMP15 FSHR GDF9 INHA
18 uterus development GO:0060065 9.43 CYP19A1 FOXL2 FSHR
19 oocyte growth GO:0001555 9.4 FOXL2 GDF9
20 ovarian follicle development GO:0001541 9.26 BMP15 EIF2B2 FOXL2 INHA
21 female gamete generation GO:0007292 8.92 BMP15 FSHR GDF9 MCM9

Molecular functions related to Premature Ovarian Failure 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 GNRH1 INHA PRL
2 transforming growth factor beta receptor binding GO:0005160 8.8 BMP15 GDF9 INHA

Sources for Premature Ovarian Failure 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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