Uterine Anomalies |
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Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Dec... |
ORPHA:983 |
Perrault Syndrome 6 |
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Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Ovarian Dysgenesis 2 |
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Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Premature Ovarian Failure 7 |
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Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter... |
OMIM:612964 |
Premature Ovarian Failure 6 |
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Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
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 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
46,Xy Sex Reversal 11 |
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Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal... |
OMIM:273250 |
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 |
46,Xy Sex Reversal 3 |
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Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Premature Ovarian Failure 18 |
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Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ... |
OMIM:619203 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea... |
ORPHA:168563 |
Leydig Cell Hypoplasia |
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Abnormal internal genitalia, Hypergonadotropic hypogonadism, Female hypogonadism, Hypospadias, Ab... |
ORPHA:755 |
Diethylstilbestrol Syndrome |
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Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Partial Androgen Insensitivity Syndrome |
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Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
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Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi... |
ORPHA:99429 |
Mullerian Aplasia And Hyperandrogenism |
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Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... |
OMIM:158330 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the uterus, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the ... |
OMIM:619665 |
Vaginal Atresia |
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Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Hydatidiform Mole |
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Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... |
OMIM:614841 |
Perrault Syndrome 3 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:614129 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
46,Xx Sex Reversal 2 |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Vanishing te... |
ORPHA:325124 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... |
OMIM:614837 |
Perrault Syndrome 4 |
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Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplasia of the uter... |
OMIM:615300 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
Renal And Mullerian Duct Hypoplasia |
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Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypoplasia of the vagina, Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fe... |
ORPHA:90796 |
Lumbar Syndrome |
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Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, Aplasia of the uterus |
OMIM:146255 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Long penis, Ambiguous genitalia, female, Hypoplas... |
OMIM:202010 |
Townes-Brocks Syndrome 2 |
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Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert... |
ORPHA:90794 |
Oeis Complex |
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Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Meckel Syndrome 14 |
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Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
ORPHA:3320 |
Chromosome 17Q12 Deletion Syndrome |
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Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Phocomelia, Schinzel Type |
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Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Limb-Mammary Syndrome |
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Aplasia of the uterus, Primary amenorrhea, Aplasia of the ovary |
ORPHA:69085 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Fanconi Anemia, Complementation Group L |
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Micropenis, Aplasia of the uterus |
OMIM:614083 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
OMIM:274000 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:194190 |
Coffin-Siris Syndrome 1 |
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Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Hydrolethalus Syndrome 1 |
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Abnormal vagina morphology, Hypospadias, Bifid uterus |
OMIM:236680 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Neu-Laxova Syndrome 1 |
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Cryptorchidism, Bifid uterus |
OMIM:256520 |
Okamoto Syndrome |
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Bifid uterus |
ORPHA:2729 |
Norrie Disease |
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Cryptorchidism, Erectile dysfunction, Uterine rupture |
ORPHA:649 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
Pallister-Killian Syndrome |
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Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... |
OMIM:601803 |