| 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 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
| 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 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Penoscrotal hypospadias, Exaggerated rugosity of the labia majora, Clitoral hypertr... |
OMIM:612965 |
| Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:612964 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
| Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
| 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 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Abnormality of the uterine cervix, Partial vaginal septum, Uterus didelphys |
ORPHA:3411 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
| Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
| 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 |
| Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Aplasia/hypoplasia of the uterus, Azoospermia |
ORPHA:2578 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Microphthalmia, Syndromic 12 |
|
Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... |
OMIM:615234 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:612310 |
| Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Ascites, Peritonitis, Ovarian fibroma, ... |
ORPHA:314478 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... |
ORPHA:325124 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619203 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Cryptorchidism, Decreased tes... |
OMIM:614841 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:619665 |
| 46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
| 46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... |
OMIM:273250 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
| Amed Syndrome, Digenic |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Thrombocytopenia, Hypopl... |
OMIM:619151 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Leydig Cell Hypoplasia |
|
Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... |
ORPHA:755 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
| Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
| 46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Azoospermia, Clitoral hypertrophy, Bicornuate ut... |
OMIM:400045 |
| 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 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
| Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
| Lumbar Syndrome |
|
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... |
ORPHA:83628 |
| Donnai-Barrow Syndrome |
|
Abnormality of the uterus, Bicornuate uterus |
ORPHA:2143 |
| 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 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus |
ORPHA:247768 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the vagina |
OMIM:146255 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
| Teebi Hypertelorism Syndrome 1 |
|
Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| 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 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
| 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 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, Ascites, Splenomegaly, Abnormality of the uterus, Vagin... |
ORPHA:1655 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Bicornuate uterus, Ambiguous genitalia, female |
OMIM:606408 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Periportal fibrosis |
OMIM:263210 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... |
ORPHA:2470 |
| Microgastria-Limb Reduction Defects Association |
|
Aganglionic megacolon, Asplenia, Splenogonadal fusion, Absent gallbladder, Bicornuate uterus, Cry... |
OMIM:156810 |
| 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 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Labial hypoplasia, Bicornuate uterus, Rectovaginal fistula, Clitoral hypertrophy |
OMIM:300707 |
| Duplication Of Urethra |
|
Hypospadias, Bifid scrotum, Chordee, Uterus didelphys, Coronal hypospadias, Clitoral hypertrophy,... |
ORPHA:237 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Popliteal Pterygium Syndrome |
|
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... |
OMIM:119500 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Bicornuate uterus, Abnormality of the urethra, Abnormality of the uterus |
ORPHA:2438 |
| Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u... |
OMIM:601186 |
| 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 |
| Prune Belly Syndrome |
|
Congenital posterior urethral valve, Urogenital sinus anomaly, Abnormality of the uterus, Cryptor... |
ORPHA:2970 |
| 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 |
| Pagod Syndrome |
|
Optic atrophy, Abnormality of the spleen, Abnormal morphology of female internal genitalia, Abnor... |
ORPHA:991 |
| Woodhouse-Sakati Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Micropenis, Premature ovarian in... |
OMIM:241080 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia of the pancreas, Ab... |
ORPHA:93111 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys |
ORPHA:2237 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Aplasia of the uterus, Precocious puberty in females, Bifid scrotum, Ambiguous genit... |
ORPHA:90793 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Meacham Syndrome |
|
Accessory spleen, Bicornuate uterus, Septate vagina, Blind vagina, Male pseudohermaphroditism, En... |
OMIM:608978 |
| Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
| Microsporidiosis |
|
Abnormality of the endometrium, Cholangitis, Abnormality of the spleen, Prostatitis, Lymphadeniti... |
ORPHA:2552 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:110100 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Bico... |
OMIM:137920 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of the uterus |
OMIM:309801 |
| Cardiac-Urogenital Syndrome |
|
Aplasia of the uterus, Bifid scrotum, Accessory spleen, Micropenis, Ambiguous genitalia, Hepatopu... |
OMIM:618280 |
| 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 |
| Pontocerebellar Hypoplasia Type 7 |
|
Optic atrophy, Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal ... |
ORPHA:284339 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... |
ORPHA:3464 |
| Beaulieu-Boycott-Innes Syndrome |
|
Endometriosis |
OMIM:613680 |
| Pseudotrisomy 13 Syndrome |
|
Bicornuate uterus, Micropenis, Cryptorchidism |
OMIM:264480 |
| Rhombencephalosynapsis |
|
Abnormality of the uterus, Aganglionic megacolon, Septo-optic dysplasia |
ORPHA:59315 |
| Fryns Syndrome |
|
Hypospadias, Bicornuate uterus, Cryptorchidism, Aganglionic megacolon |
ORPHA:2059 |
| 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 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Hypospadias, Streak ovary, Chordee, Uterus didelphys, Urogenital sinus anomaly, Clitoral hypertro... |
OMIM:618820 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Asplenia, Abnormality of the uterus, Abnormal liver lobulation, Abnormal fal... |
ORPHA:99776 |
| Waardenburg Syndrome |
|
Abnormality of the uterus, Abnormal vagina morphology, Aganglionic megacolon |
ORPHA:3440 |
| Fanconi Anemia |
|
Hypospadias, Aganglionic megacolon, Leukopenia, Azoospermia, Abnormal preputium morphology, Anemi... |
ORPHA:84 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Splenopancreatic fusion, Hepatob... |
OMIM:269150 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Micropenis, Endometriosis, Premature ovarian insufficiency |
ORPHA:363444 |
| Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... |
OMIM:614527 |
| Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Uterus didelphys |
OMIM:200980 |
| Alg9-Cdg |
|
Hepatomegaly, Hepatic cysts, Hypoplasia of the ovary, Bicornuate uterus, Periportal fibrosis, Enl... |
ORPHA:79328 |
| Smith-Lemli-Opitz Syndrome |
|
Hypospadias, Aganglionic megacolon, Bifid scrotum, Cholestatic liver disease, Bicornuate uterus, ... |
OMIM:270400 |
| Fryns Syndrome |
|
Hypospadias, Ectopic pancreatic tissue, Aganglionic megacolon, Bifid scrotum, Bicornuate uterus, ... |
OMIM:229850 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micropenis, Septate vagina, Uterus didelphys, Absent gallbladder |
OMIM:617925 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Cystocele, Cry... |
ORPHA:322 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Cryptorchidism, Shawl scrotum |
ORPHA:2745 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Labial hypoplasia, Bicornuate uterus, Clitoral hypertrophy |
ORPHA:140952 |
| Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... |
ORPHA:94095 |
| Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus, Aganglionic megacolon |
OMIM:154400 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Accessory spleen, Abnormal vagina morphology, Bifid uterus |
OMIM:236680 |
| Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Asplenia, Bile duct proliferation, External genital hyp... |
OMIM:249000 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina |
OMIM:271520 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic labia majora, Bicornuate uterus, Micropenis, Ambiguous genitalia, Bilateral cryptorch... |
OMIM:263650 |
| Currarino Syndrome |
|
Rectovaginal fistula, Bicornuate uterus, Septate vagina |
OMIM:176450 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia, Aplasia of the uterus |
ORPHA:3320 |
| Fraser Syndrome |
|
Hypospadias, Abnormal vagina morphology, Urethral atresia, Small scrotum, Bicornuate uterus, Vagi... |
ORPHA:2052 |
| 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 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... |
OMIM:107480 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Polycystic ovaries, Premature ovarian insufficiency, Hypergonadotropic hypogonadism... |
ORPHA:572333 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cervical insufficiency, Anemia, Uterine prolapse, Cystocele, Cryptorchidism |
OMIM:130050 |
| Fraser Syndrome 1 |
|
Hypospadias, Clitoral hypertrophy, Bicornuate uterus, Micropenis, Vaginal atresia, Abnormality of... |
OMIM:219000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Aplasia of the uterus, Pancreatic cysts, Anemia, Hepatosplenomegaly, Thrombocytopen... |
OMIM:274000 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Aplasia/hypoplasia of the uterus, Aplasia of the ovary, Agonadism, Non-obstructive ... |
ORPHA:2232 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Optic nerve hypoplasia, Aplasia of the vagina |
ORPHA:457284 |
| Ulnar-Mammary Syndrome |
|
Abnormality of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:3138 |
| Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Aganglionic megacolon, Bifid uterus, Leukemia, Papillary cystadenoma of the epididym... |
OMIM:180849 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Pulmonary lymphangiectasia, Asplenia, Annular pancreas, Right ventricular hypertroph... |
OMIM:265380 |
| Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal... |
ORPHA:96121 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Optic atrophy, Aganglionic megacolon, Hypoplasia of the thymus, Abnormality of the t... |
ORPHA:567 |
| Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Enlarged labia minora, Long penis, Clitoral hypertrophy, Bicornuate uterus, Accessor... |
OMIM:268300 |
| Norrie Disease |
|
Optic atrophy, Uterine rupture, Cryptorchidism |
ORPHA:649 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis, Urethrovaginal fistula, Uterus didelphys, Ambiguous genitalia, Crypt... |
ORPHA:93271 |
| Peters-Plus Syndrome |
|
Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Clitoral h... |
OMIM:261540 |
| Cowden Syndrome |
|
Endometrial carcinoma, Abnormal penis morphology, Abnormality of the uterus, Enlarged polycystic ... |
ORPHA:201 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Hemolytic anemia, Unicornuate uterus, Congenital Horner syndrome, Hepatic steatosi... |
OMIM:619503 |
| Peters Plus Syndrome |
|
Hypospadias, Optic atrophy, Clitoral hypoplasia, Cryptorchidism, Hypoplasia of the uterus |
ORPHA:709 |
| Limb-Mammary Syndrome |
|
Aplasia of the ovary, Aplasia of the uterus |
ORPHA:69085 |
| Lacrimoauriculodentodigital Syndrome |
|
Bicornuate uterus, Cryptorchidism |
ORPHA:2363 |
| 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 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Aplasia of the uterus, Accessory spleen, Cryptorchidism, Biliary tract abnormality, ... |
OMIM:194190 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Anemia, Uterine prolapse, Cryptorchidism, Precocious puberty |
ORPHA:438213 |
| Coffin-Siris Syndrome 1 |
|
Hypospadias, Cryptorchidism, Clitoral hypertrophy, Aplasia of the uterus |
OMIM:135900 |
| Classical Ehlers-Danlos Syndrome |
|
Cervical insufficiency, Uterine prolapse, Orthostatic hypotension |
ORPHA:287 |
| Cornelia De Lange Syndrome |
|
Hypospadias, Hypoplastic labia majora, Abnormality of the uterus, Cryptorchidism, Hypoplasia of p... |
ORPHA:199 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Aplasia of the uterus, Anteriorly displaced genitalia, Cryptorchidism |
OMIM:276820 |
| Pallister-Hall Syndrome |
|
Hypospadias, Aplasia/hypoplasia of the uterus, Small scrotum, Aplasia/Hypoplasia of the vagina, D... |
ORPHA:672 |
| Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
| Aneurysm-Osteoarthritis Syndrome |
|
Left ventricular hypertrophy, Uterine prolapse |
ORPHA:284984 |
| Loeys-Dietz Syndrome 3 |
|
Cystocele, Uterine prolapse, Left ventricular hypertrophy |
OMIM:613795 |
| Pallister-Killian Syndrome |
|
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Aplasia of the upper... |
OMIM:601803 |
