Premature Ovarian Failure 5 |
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Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Ovarian Dysgenesis 2 |
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Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Perrault Syndrome 6 |
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Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Ovarian Dysgenesis 10 |
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Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Female Infertility Due To Oocyte Meiotic Arrest |
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Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Perrault Syndrome 2 |
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Streak ovary, Amenorrhea |
OMIM:614926 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
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Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Premature Ovarian Failure 6 |
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Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Premature Ovarian Failure 9 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Premature Ovarian Failure 18 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Premature Ovarian Failure 10 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Ovarian Dysgenesis 9 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Premature Ovarian Failure 8 |
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Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Premature Ovarian Failure 21 |
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Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Ring Chromosome Y Syndrome |
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Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
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Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Perrault Syndrome 3 |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Familial Hyperprolactinemia |
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Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
46,Xx Testicular Difference Of Sex Development |
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Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
46,Xy Sex Reversal 7 |
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Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Perrault Syndrome 4 |
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Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Polycystic Ovary Syndrome 1 |
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Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
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Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
46,Xx Gonadal Dysgenesis |
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Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
Frasier Syndrome |
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Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Obesity Due To Congenital Leptin Deficiency |
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Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
46,Xy Complete Gonadal Dysgenesis |
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Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Satoyoshi Syndrome |
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Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
46,Xy Partial Gonadal Dysgenesis |
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Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Aromatase Deficiency |
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Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Ovarian Dysgenesis 3 |
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Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Gonadoblastoma |
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Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
Bardet-Biedl Syndrome |
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Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Ovarian Fibrothecoma |
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Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
Tetragametic Chimerism |
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Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Woodhouse-Sakati Syndrome |
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Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Leopard Syndrome 1 |
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Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... |
OMIM:151100 |
Genitourinary And/Or Brain Malformation Syndrome |
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Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
Hypoplasminogenemia |
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Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Alg9-Cdg |
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Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary |
ORPHA:79328 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Micropenis, Hypoplasia of the ovary, Decreased testicular size |
OMIM:619321 |
Schinzel-Giedion Syndrome |
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Streak ovary, Hypospadias, Central hypothyroidism, Micropenis, Annular pancreas |
ORPHA:798 |