| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Ovarian Dysgenesis 6 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:618078 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... |
OMIM:612965 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Vaginal Atresia |
|
Imperforate hymen, Pelvic mass, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, C... |
ORPHA:65681 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Abnormality of peripheral nerve conduct... |
ORPHA:168563 |
| Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Hydrocolpos, Uterus didelphys, Abnormal uterine cervix morphology |
ORPHA:3411 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Testicular Regression Syndrome |
|
Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Male pseudohermaphroditism, Aplasia/Hypopla... |
ORPHA:754 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Diethylstilbestrol Syndrome |
|
Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Ovarian Fibrothecoma |
|
Gonadal calcification, Peritonitis, Abnormality of the ovary, Ascites, Abnormal endometrium morph... |
ORPHA:314478 |
| Perrault Syndrome 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:614841 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... |
OMIM:273250 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... |
OMIM:194072 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Hypopl... |
OMIM:619151 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Premature Ovarian Failure 6 |
|
Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Leydig Cell Hypoplasia |
|
Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Ovotestis, Clito... |
OMIM:400045 |
| Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Cryptorchidism |
ORPHA:1756 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
| Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... |
ORPHA:99429 |
| Donnai-Barrow Syndrome |
|
Abnormality of the uterus, Bicornuate uterus |
ORPHA:2143 |
| Perrault Syndrome 4 |
|
Bicornuate uterus, Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:615300 |
| Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... |
OMIM:194080 |
| Lumbar Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... |
ORPHA:83628 |
| Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopi... |
OMIM:158330 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Pseudopapilledema, Aplasia of the uterus, Septate vagina, Aplasia of the vagina, Uterus didelphys |
OMIM:146255 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus |
ORPHA:247768 |
| Omodysplasia 2 |
|
Labial hypoplasia, Clitoral hypoplasia, Hypospadias, Cryptorchidism, Uterus didelphys, Micropenis |
OMIM:164745 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| 46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplastic labia majora, Agonadism, Hypergonadotropic hypogonadism, Gonadal dysgen... |
OMIM:154230 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Optic nerve hypoplasia, Hypoplasia of the uterus |
OMIM:617914 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus |
OMIM:263210 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Hydrocele testis, Anteriorly displaced urethral meatus |
OMIM:266810 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormality o... |
ORPHA:1655 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Male hy... |
ORPHA:432 |
| Duplication Of Urethra |
|
Penile hypospadias, Bifid scrotum, Urethral stricture, Epispadias, Hypospadias, Micropenis, Septa... |
ORPHA:237 |
| Estrogen Resistance |
|
Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... |
OMIM:202010 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
| Hand-Foot-Genital Syndrome |
|
Abnormality of the uterus, Hypospadias, Abnormality of the urethra, Bicornuate uterus |
ORPHA:2438 |
| Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Annular pancreas, Abnormal spleen morphology, Abnormality of ... |
ORPHA:2470 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit... |
ORPHA:90796 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
| Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u... |
OMIM:601186 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Congenital posterior urethral valve, Decreased testicular size, Abnorma... |
ORPHA:2970 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Longitudinal vaginal septum, Uterus didelphys, Micropenis, Chordee |
OMIM:140000 |
| Popliteal Pterygium Syndrome |
|
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... |
OMIM:119500 |
| Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... |
OMIM:258040 |
| Teebi Hypertelorism Syndrome 1 |
|
Bicornuate uterus, Hydrocele testis, Shawl scrotum |
OMIM:145420 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Meacham Syndrome |
|
Bicornuate uterus, Enlarged kidney, Male pseudohermaphroditism, Blind vagina, Accessory spleen, S... |
OMIM:608978 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Bicornuate uter... |
ORPHA:93111 |
| Pagod Syndrome |
|
Ambiguous genitalia, Abnormal testis morphology, Optic atrophy, Agonadism, Abnormality of the ute... |
ORPHA:991 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Ambiguous genitalia, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis |
ORPHA:243 |
| Acro-Renal-Mandibular Syndrome |
|
Uterus didelphys, Bicornuate uterus |
ORPHA:958 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Septate vagina, Uterus didelphys, Aplasia of the uterus |
ORPHA:2237 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ambiguous genitalia, male... |
ORPHA:90793 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:609441 |
| Microsporidiosis |
|
Lymphadenitis, Abnormal fallopian tube morphology, Prostatitis, Hepatitis, Peritonitis, Biliary t... |
ORPHA:2552 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplastic labia majora, Clitoral hypoplasia, Accessory spleen, Gonadal dysgenesis, Hypoplasia o... |
OMIM:618419 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Fryns Syndrome |
|
Aganglionic megacolon, Hypospadias, Cryptorchidism, Bicornuate uterus |
ORPHA:2059 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Biliary tract abnormality, Epidid... |
OMIM:137920 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicornuate uterus, Labial hypoplasia, Septate vagina, Rectovaginal fistula, Clitoral hypertrophy |
OMIM:300707 |
| Pseudotrisomy 13 Syndrome |
|
Micropenis, Cryptorchidism, Bicornuate uterus |
OMIM:264480 |
| Rhombencephalosynapsis |
|
Abnormality of the uterus, Aganglionic megacolon, Septo-optic dysplasia |
ORPHA:59315 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Optic atrophy, Microphallus, Aplasia of the uterus, Fatigable ... |
ORPHA:284339 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Ambiguou... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Midshaft hypospadias, Sex reversal, Decreased testicular size, Ambiguou... |
ORPHA:289548 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Streak ovary, Uterus d... |
OMIM:618820 |
| Waardenburg Syndrome |
|
Abnormality of the uterus, Aganglionic megacolon, Abnormal vagina morphology |
ORPHA:3440 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation, Abnormal fallopian tube morphology, Hypoplasia of penis, Hyp... |
ORPHA:99776 |
| Beaulieu-Boycott-Innes Syndrome |
|
Endometriosis |
OMIM:613680 |
| Woodhouse-Sakati Syndrome |
|
Decreased testicular size, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Hypo... |
OMIM:241080 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Bicornuate uterus, Hypoplastic labia minora, Hypoplastic labia majora, Hepatoblastoma, Hypospadia... |
OMIM:269150 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Hypoplasia of the uterus, Ovotestis, Micropenis, Clitoral hypertrophy, Chordee |
OMIM:309801 |
| Fanconi Anemia |
|
Leukopenia, Anemia, Abnormality of the liver, Abnormal testis morphology, Abnormal preputium morp... |
ORPHA:84 |
| Smith-Lemli-Opitz Syndrome |
|
Cirrhosis, Precocious puberty, Ambiguous genitalia, Bifid scrotum, Bicornuate uterus, Aganglionic... |
OMIM:270400 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Opitz Gbbb Syndrome |
|
Bicornuate uterus, Bifid scrotum, Shawl scrotum, Hypospadias, Cryptorchidism, Enlarged ovaries |
ORPHA:2745 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus |
ORPHA:140952 |
| Fryns Syndrome |
|
Shawl scrotum, Bicornuate uterus, Bifid scrotum, Polysplenia, Aganglionic megacolon, Ectopic panc... |
OMIM:229850 |
| Woodhouse-Sakati Syndrome |
|
Abnormal spermatogenesis, Hypogonadism, Decreased testicular size, Hypoplasia of the fallopian tu... |
ORPHA:3464 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Aplasia of the uterus, Urethral stenosis, Cryptorchidism, Ovarian cyst, Aplas... |
OMIM:614527 |
| Alg9-Cdg |
|
Periportal fibrosis, Bicornuate uterus, Enlarged kidney, Hypoplasia of the ovary, Hepatomegaly, H... |
ORPHA:79328 |
| Currarino Syndrome |
|
Septate vagina, Rectovaginal fistula, Bicornuate uterus |
OMIM:176450 |
| Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Uterus didelphys, Bicornuate uterus |
OMIM:200980 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Micropenis |
OMIM:617925 |
| Exstrophy-Epispadias Complex |
|
Absent penis, Bifid scrotum, Penoscrotal transposition, Epispadias, Bifid uterus, Bifid penis, Cy... |
ORPHA:322 |
| Bartsocas-Papas Syndrome 1 |
|
Ambiguous genitalia, Bicornuate uterus, Bilateral cryptorchidism, Absent external genitalia, Hypo... |
OMIM:263650 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Endometriosis, Hypospadias, Micropenis |
ORPHA:363444 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus |
OMIM:271520 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Hepatic fibrosis, Ambiguous genitalia |
OMIM:619879 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Hydrolethalus Syndrome 1 |
|
Bifid uterus, Accessory spleen, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
| Fraser Syndrome |
|
Urethral atresia, Ambiguous genitalia, Bicornuate uterus, Hypoplasia of penis, Female pseudoherma... |
ORPHA:2052 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Anemia, Cervical insufficiency, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse |
OMIM:130050 |
| Fraser Syndrome 1 |
|
Bicornuate uterus, Abnormality of the thymus, Vaginal atresia, Hypospadias, Cryptorchidism, Micro... |
OMIM:219000 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Bicornuate uterus, Pulmonary lymphangiectasia, Hypospadias, Annular pancreas, Right ven... |
OMIM:265380 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Aplasia of the ovary, Agonadism, Non-obstructive azoospermia, Hypergonadotropic hypogonadism, Cry... |
ORPHA:2232 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Precocious puberty in females, Urogenital sinus anomaly, Ambiguous genitalia, Ambiguous genitalia... |
ORPHA:90794 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Labial hypoplasia,... |
OMIM:201750 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Bicornuate uterus |
OMIM:154400 |
| Meckel Syndrome, Type 1 |
|
Asplenia, Ambiguous genitalia, female, External genital hypoplasia, Ambiguous genitalia, male, Ma... |
OMIM:249000 |
| Ulnar-Mammary Syndrome |
|
Abnormality of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:3138 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia |
ORPHA:457284 |
| Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Anemia, Micropenis, Bone marrow hypocellularity |
OMIM:614083 |
| Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Hepatopulmonary fusion, Unilateral cryptorch... |
OMIM:618280 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Polycystic ovaries, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
ORPHA:572333 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Bifid uterus, Hypospadias, Cryptorchidism, Urethral valve, ... |
OMIM:107480 |
| Ulnar-Mammary Syndrome |
|
Imperforate hymen, Bicornuate uterus, Shawl scrotum, Small scrotum, Micropenis |
OMIM:181450 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Pancreatic cysts, Anemia, Hepatosplenomegaly, Aplasia of the uterus, Leukocytosis, Eosinophilia, ... |
OMIM:274000 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Unicornuate uterus, Hemolytic anemia, Hepatosplenomegaly, Hepatic steatosis, Fetal ascites, Chole... |
OMIM:619503 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Optic atrophy, Aganglionic megacolon, Abnormality of the uterus, Hyposp... |
ORPHA:567 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
| Norrie Disease |
|
Uterine rupture, Optic atrophy, Cryptorchidism |
ORPHA:649 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ambiguous genitalia, Urethrovaginal fistula, Hypoplasia of penis, Cryptorchidism, Uterus didelphy... |
ORPHA:93271 |
| Cowden Syndrome |
|
Abnormality of the uterus, Enlarged polycystic ovaries, Endometrial carcinoma, Abnormal penis mor... |
ORPHA:201 |
| Roberts-Sc Phocomelia Syndrome |
|
Bicornuate uterus, Enlarged labia minora, Biliary tract abnormality, Long penis, Hypospadias, Acc... |
OMIM:268300 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Hypoplasia of the vagina, Hypoplastic labia majora, Biliary tract abnormali... |
OMIM:261540 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Bicornuate uterus |
ORPHA:2363 |
| Peters Plus Syndrome |
|
Optic atrophy, Clitoral hypoplasia, Hypospadias, Cryptorchidism, Hypoplasia of the uterus |
ORPHA:709 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse |
ORPHA:286 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Biliary tract abnormality, Aplasia of the uterus, Hypospadias, Accessory sple... |
OMIM:194190 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Rectoperineal fistula, Hypoplasia of penis, Abnormality of the uterus, Hypospadias... |
ORPHA:857 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Precocious puberty, Cryptorchidism, Uterine prolapse, Optic disc pallor |
ORPHA:438213 |
| Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Cervical insufficiency, Uterine prolapse |
ORPHA:287 |
| Coffin-Siris Syndrome 1 |
|
Aplasia of the uterus, Hypospadias, Clitoral hypertrophy, Cryptorchidism |
OMIM:135900 |
| Cornelia De Lange Syndrome |
|
Hypoplastic labia majora, Hypoplasia of penis, Abnormality of the uterus, Hypospadias, Cryptorchi... |
ORPHA:199 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Small scrotum |
OMIM:276820 |
| Aneurysm-Osteoarthritis Syndrome |
|
Left ventricular hypertrophy, Uterine prolapse |
ORPHA:284984 |
| Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
| Loeys-Dietz Syndrome 3 |
|
Left ventricular hypertrophy, Cystocele, Uterine prolapse |
OMIM:613795 |
| Pallister-Killian Syndrome |
|
Labial hypoplasia, Aplasia of the upper vagina, Hypoplastic labia majora, Aplasia of the uterus, ... |
OMIM:601803 |
