Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Azoospermia, Abnormality of ... |
ORPHA:261529 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Decreased antimullerian hormone level, Elevated circulating follicle stimul... |
OMIM:619203 |
Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea, Hemorrhagic ovarian cyst, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Azoospermia, Hypogonadism, Primary amenorrhea, Decreased testicular size |
OMIM:229070 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty |
OMIM:300604 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... |
OMIM:614841 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Cryptorchi... |
ORPHA:1646 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Premature... |
OMIM:618723 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Hydatidiform Mole, Recurrent, 4 |
|
Recurrent spontaneous abortion, Female infertility |
OMIM:618432 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
Oocyte Maturation Defect 10 |
|
Female infertility, Spontaneous abortion |
OMIM:619176 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
46,Xx Gonadal Dysgenesis |
|
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... |
ORPHA:243 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absence of pubertal development... |
ORPHA:432 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... |
ORPHA:2235 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... |
ORPHA:2795 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Satoyoshi Syndrome |
|
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... |
ORPHA:3130 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Male hypogona... |
OMIM:240950 |
Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility |
ORPHA:1643 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Mitochondrial hypertrophy, Premature ovarian insufficiency |
OMIM:619518 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... |
ORPHA:752 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... |
ORPHA:314478 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Streak ovary, Hypergonadotropic hypogonadism, Aplasia/hypoplasia of the uterus, Abse... |
ORPHA:2232 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... |
ORPHA:91 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... |
OMIM:110100 |
Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314473 |
Bardet-Biedl Syndrome |
|
Hypogonadism, Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary |
ORPHA:110 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
Hymen, Imperforate |
|
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos |
OMIM:237100 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... |
ORPHA:572333 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... |
ORPHA:3464 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Non-Functioning Pituitary Adenoma |
|
Adrenal insufficiency, Increased serum testosterone level, Abnormality of the menstrual cycle, De... |
ORPHA:91349 |
Prolactinoma |
|
Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary gland, ... |
ORPHA:2965 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... |
ORPHA:247768 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Leopard Syndrome 1 |
|
Hypospadias, Hypoplasia of the ovary, Aplasia of the ovary, Micropenis, Cryptorchidism, Delayed m... |
OMIM:151100 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... |
OMIM:618820 |
Tsh-Secreting Pituitary Adenoma |
|
Goiter, Abnormality of the menstrual cycle, Decreased female libido, Abnormality of the pituitary... |
ORPHA:91347 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Alg9-Cdg |
|
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary |
ORPHA:79328 |
Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Hypogonadism, Vaginal atresia, Micropenis, Nephrogenic diabetes insipid... |
OMIM:209900 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Micropenis, Decreased testicular size, Hypoplasia of the ovary |
OMIM:619321 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... |
ORPHA:95699 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... |
ORPHA:99413 |
Turner Syndrome |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... |
ORPHA:881 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Abnormality of the ovary, Type II diabetes mellitus, Gonadoblastoma, High u... |
ORPHA:99226 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Central hypothyroidism, Streak ovary, Annular pancreas, Micropenis |
ORPHA:798 |