Uterine Anomalies |
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Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Testicular Regression Syndrome |
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Abnormal morphology of female internal genitalia, Decreased testicular size, Absent testis, Male ... |
ORPHA:983 |
Renal Hypodysplasia/Aplasia 3 |
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Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral reflux,... |
OMIM:617805 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
Caudal Duplication Anomaly |
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Ureteral duplication, Uterus didelphys |
OMIM:607864 |
46,Xy Sex Reversal 3 |
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Clitoral hypertrophy, Gonadal dysgenesis, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
46,Xx Ovotesticular Difference Of Sex Development |
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Small scrotum, Abnormal male internal genitalia morphology, Abnormal morphology of female interna... |
ORPHA:2138 |
46,Xy Sex Reversal 11 |
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Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
Renal And Mullerian Duct Hypoplasia |
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Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... |
OMIM:266810 |
Mullerian Aplasia And Hyperandrogenism |
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Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... |
OMIM:158330 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Leydig Cell Hypoplasia |
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Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... |
ORPHA:755 |
Testicular Agenesis |
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Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
46,Xy Sex Reversal 7 |
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Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
Partial Androgen Insensitivity Syndrome |
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Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... |
ORPHA:90797 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney |
OMIM:601076 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... |
OMIM:146255 |
Ovarian Dysgenesis 2 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Complete Androgen Insensitivity Syndrome |
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Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
Premature Ovarian Failure 7 |
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Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... |
ORPHA:3109 |
Townes-Brocks Syndrome 2 |
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Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Lumbar Syndrome |
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Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... |
ORPHA:83628 |
Vaginal Atresia |
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Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
46,Xx Sex Reversal 2 |
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Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
Perrault Syndrome 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Unilateral renal agenesis, Uterus didelphys, Septate vagina, Vesicoureteral reflux, Renal insuffi... |
ORPHA:2237 |
46,Xy Sex Reversal 4 |
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Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... |
OMIM:154230 |
Premature Ovarian Failure 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Premature Ovarian Failure 18 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Hydatidiform Mole |
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Enlarged uterus |
ORPHA:99927 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,... |
ORPHA:90793 |
Oeis Complex |
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Hydroureter, Vesicovaginal fistula, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, ... |
OMIM:258040 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Hypernatriuria, Abno... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Hypernatriuria, Abno... |
ORPHA:289548 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... |
OMIM:202010 |
Chromosome 17Q12 Deletion Syndrome |
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Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Stage 5 chronic kidney... |
OMIM:614527 |
Renal Cysts And Diabetes Syndrome |
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Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral... |
OMIM:271520 |
Exstrophy-Epispadias Complex |
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Penoscrotal transposition, Renal hypoplasia, Bifid scrotum, Horseshoe kidney, Abnormality of the ... |
ORPHA:322 |
Thrombocytopenia-Absent Radius Syndrome |
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Horseshoe kidney, Aplasia of the uterus |
ORPHA:3320 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypernatriuria, Decreased testic... |
ORPHA:90794 |
Meckel Syndrome 14 |
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Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia |
OMIM:619879 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Fanconi Anemia, Complementation Group L |
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Micropenis, Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus |
OMIM:614083 |
Pontocerebellar Hypoplasia Type 7 |
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Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Penoscrotal hypospadias, Ambiguous genitali... |
OMIM:618280 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Unilateral renal agenesis, Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Phocomelia, Schinzel Type |
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Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Thrombocytopenia-Absent Radius Syndrome |
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Horseshoe kidney, Ureteral duplication, Vesicoureteral reflux, Aplasia of the uterus |
OMIM:274000 |
Townes-Brocks Syndrome 1 |
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Renal hypoplasia, Multicystic kidney dysplasia, Rectovaginal fistula, Bifid scrotum, Vesicoureter... |
OMIM:107480 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Coffin-Siris Syndrome 1 |
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Renal hypoplasia, Clitoral hypertrophy, Hydroureter, Cryptorchidism, Hydronephrosis, Aplasia of t... |
OMIM:135900 |
Okamoto Syndrome |
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Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Hydronephrosis, Urinary incontin... |
ORPHA:2729 |
Limb-Mammary Syndrome |
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Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Hydrolethalus Syndrome 1 |
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Hydronephrosis, Bifid uterus, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
Ehlers-Danlos Syndrome, Vascular Type |
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Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency |
OMIM:130050 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism |
OMIM:194190 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
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Bifid uterus, Cryptorchidism |
OMIM:256520 |
Vascular Ehlers-Danlos Syndrome |
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Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Bladder diverticulum, Renovascular ... |
ORPHA:286 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Pallister-Killian Syndrome |
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Small scrotum, Cryptorchidism, Renal cyst, Hypoplastic labia majora, Aplasia of the uterus, Aplas... |
OMIM:601803 |
Norrie Disease |
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Uterine rupture, Cryptorchidism |
ORPHA:649 |