Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Partial vaginal septum, Uterus didelphys, Hematocolpos |
OMIM:192050 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Ovarian Dysgenesis 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Mucocutaneous Ulceration, Chronic |
|
Vaginal mucosal ulceration |
OMIM:618287 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... |
OMIM:612965 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:612964 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys |
ORPHA:3411 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... |
OMIM:614837 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... |
ORPHA:325124 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... |
OMIM:273250 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619203 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:612310 |
Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619665 |
Hymen, Imperforate |
|
Hydrocolpos, Imperforate hymen, Hematocolpos |
OMIM:237100 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... |
OMIM:614841 |
Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
Leydig Cell Hypoplasia |
|
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... |
ORPHA:755 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Ovarian neoplasm, Abnormal fallopian tube morphology, Prostate cancer |
ORPHA:145 |
46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... |
OMIM:400045 |
Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma |
OMIM:612359 |
Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314478 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
Caudal Duplication |
|
Cryptorchidism, Abnormal penis morphology, Uterus didelphys |
ORPHA:1756 |
Perrault Syndrome 4 |
|
Bicornuate uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the ut... |
OMIM:615300 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... |
ORPHA:90797 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Bifid uterus |
OMIM:617466 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Lumbar Syndrome |
|
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... |
ORPHA:83628 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
Donnai-Barrow Syndrome |
|
Abnormality of the uterus, Bicornuate uterus |
ORPHA:2143 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus |
ORPHA:247768 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... |
OMIM:202010 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Teebi Hypertelorism Syndrome 1 |
|
Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Male hypogonadis... |
ORPHA:432 |
Kennerknecht Syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Bicornuate uterus, Ambiguous genitalia, female |
OMIM:606408 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina |
OMIM:146255 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
Popliteal Pterygium Syndrome |
|
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... |
OMIM:119500 |
Duplication Of Urethra |
|
Hypospadias, Bifid scrotum, Chordee, Uterus didelphys, Coronal hypospadias, Clitoral hypertrophy,... |
ORPHA:237 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Labial hypoplasia, Bicornuate uterus, Rectovaginal fistula, Clitoral hypertrophy |
OMIM:300707 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Polycystic ovaries, Hypoplasia of the vagina, Ambiguous genitalia, male, Micropenis,... |
ORPHA:90796 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Bicornuate uterus, Abnormality of the urethra, Abnormality of the uterus |
ORPHA:2438 |
Hand-Foot-Genital Syndrome |
|
Hypospadias, Longitudinal vaginal septum, Bifid scrotum, Chordee, Uterus didelphys, Micropenis |
OMIM:140000 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus |
OMIM:263210 |
Oeis Complex |
|
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... |
OMIM:258040 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Premature ovarian insufficiency |
ORPHA:243 |
Prune Belly Syndrome |
|
Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormality of the uterus, Cryptor... |
ORPHA:2970 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... |
ORPHA:90793 |
Woodhouse-Sakati Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Micropenis, Premature ovarian in... |
OMIM:241080 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys |
ORPHA:2237 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:289548 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:110100 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of the uterus |
OMIM:309801 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... |
ORPHA:3464 |
Beaulieu-Boycott-Innes Syndrome |
|
Endometriosis |
OMIM:613680 |
Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... |
ORPHA:94095 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Pseudotrisomy 13 Syndrome |
|
Bicornuate uterus, Micropenis, Cryptorchidism |
OMIM:264480 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... |
OMIM:618820 |
Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus |
OMIM:601186 |
Matthew-Wood Syndrome |
|
Abnormality of the uterus, Cryptorchidism |
ORPHA:2470 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina |
OMIM:271520 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Micropenis, Endometriosis, Premature ovarian insufficiency |
ORPHA:363444 |
Microgastria-Limb Reduction Defects Association |
|
Bicornuate uterus, Splenogonadal fusion, Cryptorchidism |
OMIM:156810 |
Fryns Syndrome |
|
Hypospadias, Bicornuate uterus, Cryptorchidism |
ORPHA:2059 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Bicornuate uterus, Epididymal cyst, Hypoplasia of the uterus |
OMIM:137920 |
Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... |
OMIM:614527 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormality of the uterus, Vaginal atresia, Micropenis, Abnormal fallopian tube morphology, Crypt... |
ORPHA:1655 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
Cardiac-Urogenital Syndrome |
|
Aplasia of the uterus, Bifid scrotum, Micropenis, Ambiguous genitalia, Cryptorchidism |
OMIM:618280 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Aplasia of the uterus, Precocious puberty in females, Fused labia majora, Testicular adrenal rest... |
ORPHA:90794 |
Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Uterus didelphys |
OMIM:200980 |
Waardenburg Syndrome |
|
Abnormality of the uterus, Abnormal vagina morphology |
ORPHA:3440 |
Currarino Syndrome |
|
Rectovaginal fistula, Bicornuate uterus, Septate vagina |
OMIM:176450 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Labial hypoplasia, Bicornuate uterus, Clitoral hypertrophy |
ORPHA:140952 |
Pagod Syndrome |
|
Abnormal morphology of female internal genitalia, Abnormality of the uterus, Agonadism, Abnormal ... |
ORPHA:991 |
Meacham Syndrome |
|
Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Blind vagina |
OMIM:608978 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Bicornuate uterus, Papillary cystadenoma of the epididymis, Absent vas deferens |
ORPHA:93111 |
Pontocerebellar Hypoplasia Type 7 |
|
Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal scrotal rugatio... |
ORPHA:284339 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Cystocele, Cry... |
ORPHA:322 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormality of the uterus, Abnormal fallopian tube morphology, Cryptorchidis... |
ORPHA:99776 |
Rhombencephalosynapsis |
|
Abnormality of the uterus |
ORPHA:59315 |
Opitz Gbbb Syndrome |
|
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Cryptorchidism, Shawl scrotum |
ORPHA:2745 |
Bartsocas-Papas Syndrome 1 |
|
Hypoplastic labia majora, Bicornuate uterus, Micropenis, Ambiguous genitalia, Bilateral cryptorch... |
OMIM:263650 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micropenis, Septate vagina, Uterus didelphys |
OMIM:617925 |
Fraser Syndrome |
|
Hypospadias, Abnormal vagina morphology, Urethral atresia, Small scrotum, Bicornuate uterus, Vagi... |
ORPHA:2052 |
Fanconi Anemia |
|
Hypospadias, Azoospermia, Abnormal preputium morphology, Absent testis, Abnormality of the uterus... |
ORPHA:84 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Bicornuate uterus, Micropenis |
OMIM:269150 |
Townes-Brocks Syndrome 1 |
|
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... |
OMIM:107480 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Polycystic ovaries, Premature ovarian insufficiency, Hypergonadotropic hypogonadism... |
ORPHA:572333 |
Smith-Lemli-Opitz Syndrome |
|
Hypospadias, Bifid scrotum, Bicornuate uterus, Micropenis, Ambiguous genitalia, Septate vagina, C... |
OMIM:270400 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Aplasia/hypoplasia of the uterus, Aplasia of the ovary, Agonadism, Non-obstructive ... |
ORPHA:2232 |
Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus |
OMIM:154400 |
Alg9-Cdg |
|
Bicornuate uterus, Hypoplasia of the ovary |
ORPHA:79328 |
Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Microsporidiosis |
|
Abnormality of the endometrium, Abnormal fallopian tube morphology, Urethritis, Prostatitis |
ORPHA:2552 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Ulnar-Mammary Syndrome |
|
Abnormality of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:3138 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cervical insufficiency, Uterine prolapse, Cystocele, Cryptorchidism |
OMIM:130050 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Abnormal vagina morphology, Bifid uterus |
OMIM:236680 |
Fryns Syndrome |
|
Hypospadias, Bifid scrotum, Bicornuate uterus, Cryptorchidism, Shawl scrotum |
OMIM:229850 |
Fraser Syndrome 1 |
|
Hypospadias, Clitoral hypertrophy, Bicornuate uterus, Micropenis, Vaginal atresia, Cryptorchidism |
OMIM:219000 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Aplasia of the uterus |
ORPHA:69085 |
Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Bifid uterus, Papillary cystadenoma of the epididymis, Premature thelarche, Cryptorc... |
OMIM:180849 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Cryptorc... |
ORPHA:96121 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality ... |
OMIM:249000 |
Cowden Syndrome |
|
Endometrial carcinoma, Abnormal penis morphology, Abnormality of the uterus, Enlarged polycystic ... |
ORPHA:201 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Urethrovaginal fistula, Uterus didelphys, Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:93271 |
Peters-Plus Syndrome |
|
Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Clitoral hypoplasia, Cryptorchid... |
OMIM:261540 |
Lacrimoauriculodentodigital Syndrome |
|
Bicornuate uterus, Cryptorchidism |
ORPHA:2363 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Bicornuate uterus |
OMIM:265380 |
Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Long penis, Clitoral hypertrophy, Bicornuate uterus, Cryptorc... |
OMIM:268300 |
Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Hypoplasia of the uterus |
ORPHA:709 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism |
ORPHA:286 |
Townes-Brocks Syndrome |
|
Hypospadias, Urethral valve, Abnormal vagina morphology, Bifid scrotum, Rectovaginal fistula, Rec... |
ORPHA:857 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Cryptorchidism, Clitoral hypertrophy, Aplasia of the uterus |
OMIM:135900 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unicornuate uterus, Cryptorchidism, Micropenis |
OMIM:619503 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Cryptorchidism, Precocious puberty, Aplasia of the uterus |
OMIM:194190 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Cryptorchidism, Abnormality of the uterus |
ORPHA:567 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Aplasia of the uterus, Anteriorly displaced genitalia, Cryptorchidism |
OMIM:276820 |
Cornelia De Lange Syndrome |
|
Hypospadias, Hypoplastic labia majora, Abnormality of the uterus, Cryptorchidism, Hypoplasia of p... |
ORPHA:199 |
Pallister-Hall Syndrome |
|
Hypospadias, Aplasia/hypoplasia of the uterus, Small scrotum, Aplasia/Hypoplasia of the vagina, D... |
ORPHA:672 |
Classical Ehlers-Danlos Syndrome |
|
Cervical insufficiency, Uterine prolapse |
ORPHA:287 |
Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Cryptorchidism, Precocious puberty |
ORPHA:438213 |
Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse |
ORPHA:284984 |
Pallister-Killian Syndrome |
|
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Aplasia of the upper... |
OMIM:601803 |
Loeys-Dietz Syndrome 3 |
|
Cystocele, Uterine prolapse |
OMIM:613795 |