Uterine Anomalies |
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Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
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Vaginal mucosal ulceration, Ileitis |
OMIM:618287 |
Testicular Regression Syndrome |
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Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
Appendicitis, Proneness To |
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Abnormal large intestine morphology |
OMIM:107700 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
46,Xx Ovotesticular Difference Of Sex Development |
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Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
46,Xy Sex Reversal 3 |
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Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
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Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer, Primary peritoneal carcinoma |
ORPHA:145 |
46,Xy Sex Reversal 11 |
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Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
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 |
46,Xy Sex Reversal 7 |
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Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Ganglioneuroma |
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Gastrointestinal hemorrhage, Abnormal rectum morphology, Hamartomatous polyposis, Abnormal prosta... |
ORPHA:251992 |
Premature Ovarian Failure 7 |
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Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
Ovarian Dysgenesis 2 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
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 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
Lynch Syndrome 8 |
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Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... |
OMIM:613244 |
Lumbar Syndrome |
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Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Ectopic... |
ORPHA:83628 |
Complete Androgen Insensitivity Syndrome |
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Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
Partial Androgen Insensitivity Syndrome |
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Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... |
ORPHA:90797 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
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Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... |
OMIM:194072 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Caudal Duplication Anomaly |
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Uterus didelphys |
OMIM:607864 |
Renal And Mullerian Duct Hypoplasia |
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Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
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 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
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Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... |
ORPHA:2198 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
Hydatidiform Mole |
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Enlarged uterus |
ORPHA:99927 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Vaginal Atresia |
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Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
Perrault Syndrome 3 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus, Bifid uvula, Cleft soft palate, Cleft palate |
ORPHA:2736 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Hypomelia With Mullerian Duct Anomalies |
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Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
46,Xx Sex Reversal 2 |
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Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
Townes-Brocks Syndrome 2 |
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Bifid uterus, Anal atresia, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Premature Ovarian Failure 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Premature Ovarian Failure 18 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Visceral Myopathy 2 |
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Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Azoospermia, Hypoplasia of the uterus, Cleft palate, Bicornuate uterus |
OMIM:601076 |
Hereditary Mixed Polyposis Syndrome |
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Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Duodenal adenoc... |
ORPHA:157794 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
46,Xy Sex Reversal 4 |
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Gonadal dysgenesis, Hypoplastic labia majora, Anal atresia, High palate, Hypoplasia of the uterus... |
OMIM:154230 |
Oeis Complex |
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Duplicated colon, Anteriorly placed anus, Intestinal malrotation, Ambiguous genitalia, female, Ab... |
OMIM:258040 |
Perrault Syndrome 4 |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Cleft palate, Bicornuate uterus |
OMIM:615300 |
Satoyoshi Syndrome |
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Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
Müllerian Aplasia And Hyperandrogenism |
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Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Cleft palate |
ORPHA:247768 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... |
ORPHA:90793 |
Popliteal Pterygium Syndrome |
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Small scrotum, Bifid uvula, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia o... |
OMIM:119500 |
Muir-Torre Syndrome |
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Colonic diverticula, Duodenal adenocarcinoma, Benign gastrointestinal tract tumors, Ovarian neopl... |
OMIM:158320 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... |
ORPHA:432 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
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, Abnormal vagina morp... |
ORPHA:168558 |
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 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina |
OMIM:146255 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:289548 |
Amed Syndrome, Digenic |
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Hypoplasia of the uterus |
OMIM:619151 |
Seckel Syndrome 7 |
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Hypoplasia of the uterus |
OMIM:614851 |
Satoyoshi Syndrome |
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Hypoplasia of the uterus |
OMIM:600705 |
Meckel Syndrome 12 |
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Vaginal atresia, Bifid uvula, Hypoplasia of the uterus |
OMIM:616258 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... |
ORPHA:90796 |
Renal Agenesis, Bilateral |
|
Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate, Abnormal morphology of fe... |
ORPHA:1848 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the uterus, Absent external genitalia, Anal atresia, Aplasia of the vagina |
OMIM:271520 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Ovotestis, Chordee, Anal atresia, ... |
OMIM:309801 |
Von Hippel-Lindau Syndrome |
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Hepatic hemangioma, Epididymal cyst, Papillary cystadenoma of the epididymis |
OMIM:193300 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Cleft palate |
ORPHA:2237 |
Phocomelia, Schinzel Type |
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High, narrow palate, Cryptorchidism, Aplasia of the uterus, Anal atresia, Tracheoesophageal fistu... |
ORPHA:2879 |
Pontocerebellar Hypoplasia Type 7 |
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Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
Microcephaly 20, Primary, Autosomal Recessive |
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Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
Fanconi Anemia, Complementation Group L |
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Aplasia of the uterus, Tracheoesophageal fistula, Esophageal atresia, Micropenis, Anal atresia, C... |
OMIM:614083 |
Renal Cysts And Diabetes Syndrome |
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Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias |
OMIM:137920 |
Exstrophy-Epispadias Complex |
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Penoscrotal transposition, Anal stenosis, Bifid scrotum, Cystocele, Cryptorchidism, Abnormality o... |
ORPHA:322 |
Fg Syndrome Type 1 |
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Gastroesophageal reflux, Abnormal large intestine morphology, Cryptorchidism, Anal atresia, High ... |
ORPHA:93932 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Cleft palate |
ORPHA:3320 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia... |
OMIM:618280 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, High palate, Bifid uterus |
ORPHA:1521 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... |
ORPHA:90794 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Gonadal dysgenesis, Hypoplastic labia majora, Anal atresia, Hypoplasia of the uterus, Clitoral hy... |
OMIM:618419 |
Chromosome 17Q12 Deletion Syndrome |
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Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, H... |
OMIM:614527 |
Woodhouse-Sakati Syndrome |
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Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... |
OMIM:241080 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
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Hypoplasia of the uterus, High palate |
OMIM:615866 |
Limb-Mammary Syndrome |
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Bifid uvula, Submucous cleft soft palate, Aplasia of the ovary, Aplasia of the uterus, Cleft hard... |
ORPHA:69085 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, High palate |
OMIM:110100 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Abnormal large intestine morphology, Uterine neoplasm, Intestinal polyposis, Narrow palate, Hamar... |
ORPHA:109 |
Woodhouse-Sakati Syndrome |
|
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo... |
ORPHA:3464 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Gastroesophageal reflux, Bifid scrotum, Cryptorchidism, Tracheoesophageal fistula,... |
OMIM:107480 |
Floating-Harbor Syndrome |
|
Varicocele, Glandular hypospadias, Cryptorchidism, Celiac disease, Epididymal cyst, Hypospadias |
OMIM:136140 |
Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism |
OMIM:601186 |
Von Hippel-Lindau Disease |
|
Epididymal cyst, Papillary cystadenoma of the epididymis |
ORPHA:892 |
Floating-Harbor Syndrome |
|
Precocious puberty, Varicocele, Gastroesophageal reflux, Cryptorchidism, Celiac disease, Epididym... |
ORPHA:2044 |
Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Intestinal malrotation, Cryptorchidism, Aplasia of the uterus, High palate,... |
OMIM:135900 |
Okamoto Syndrome |
|
Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Intestinal malrotation,... |
ORPHA:2729 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Meckel diverticulum, Cleft palate |
OMIM:274000 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Anteriorly placed anus... |
OMIM:201750 |
Loeys-Dietz Syndrome |
|
Bifid uvula, High palate, Uterine rupture |
ORPHA:60030 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Malrotation of small bowel, Gastroesophageal reflux, Cryptorchidism, Aplasia ... |
OMIM:194190 |
Hydrolethalus Syndrome 1 |
|
Bifid uterus, Hypospadias, Abnormal vagina morphology, Cleft palate |
OMIM:236680 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Narrow palate, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genital... |
OMIM:276820 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency |
OMIM:130050 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Cleft palate |
OMIM:256520 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
Pallister-Killian Syndrome |
|
Small scrotum, Anal stenosis, Bifid uvula, Anteriorly placed anus, Intestinal malrotation, Crypto... |
OMIM:601803 |
Peters Plus Syndrome |
|
Intestinal fistula, Cryptorchidism, Anal atresia, Cleft palate, Hypoplasia of the uterus, Hypospa... |
ORPHA:709 |
Vascular Ehlers-Danlos Syndrome |
|
High, narrow palate, Uterine rupture, Gastrointestinal infarctions, Cystocele, Cryptorchidism, Ut... |
ORPHA:286 |
Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |
Peters-Plus Syndrome |
|
Anteriorly placed anus, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Cleft... |
OMIM:261540 |