| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Adenomyosis |
|
Adenomyosis |
OMIM:600458 |
| Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
| Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Pelvic mass, Cervicitis, Transverse vagin... |
ORPHA:65681 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| 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 |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... |
OMIM:614837 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Abnormal uterine cervix morphology, Uterus didelphys, Partial vaginal septum, Hydrocolpos |
ORPHA:3411 |
| Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
| Ovarian Dysgenesis 2 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
| Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis |
OMIM:612964 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Ovarian Fibrothecoma |
|
Abnormal endometrium morphology, Peritonitis, Gonadal calcification, Ovarian fibroma, Ascites, Ab... |
ORPHA:314478 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... |
OMIM:273250 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acut... |
OMIM:619151 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Uterus didelphys, Hypoplasia of penis |
ORPHA:2491 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... |
OMIM:400045 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Cryptorchidism |
ORPHA:1756 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... |
ORPHA:3130 |
| Donnai-Barrow Syndrome |
|
Abnormality of the uterus, Bicornuate uterus |
ORPHA:2143 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
| Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Hypopl... |
ORPHA:83628 |
| Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Uterus didelphys, Septate vagina, Pseudopapilledema, Aplasia of the uterus, Aplasia of the vagina |
OMIM:146255 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus |
OMIM:191830 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| 46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
| Kennerknecht syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Periportal fibrosis |
OMIM:263210 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... |
ORPHA:432 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Micropenis, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormal ... |
ORPHA:1655 |
| Duplication Of Urethra |
|
Chordee, Distal urethral duplication, Bifid scrotum, Micropenis, Uterus didelphys, Hypospadias, C... |
ORPHA:237 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... |
OMIM:202010 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormality of ... |
ORPHA:2470 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Labial hypoplasia, Rectovaginal fistula, Clitoral hypertrophy, Bicornuate uterus |
OMIM:300707 |
| Microgastria-Limb Reduction Defects Association |
|
Bicornuate uterus, Splenogonadal fusion, Biliary tract abnormality, Absent gallbladder, Cryptorch... |
OMIM:156810 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Abnormality of the urethra, Bicornuate uterus, Abnormality of the uterus |
ORPHA:2438 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotropic hypogonadism, ... |
ORPHA:90796 |
| Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Hypoplastic spleen, Cryptorch... |
OMIM:601186 |
| Hand-Foot-Genital Syndrome |
|
Chordee, Bifid scrotum, Micropenis, Uterus didelphys, Hypospadias, Longitudinal vaginal septum |
OMIM:140000 |
| Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Cryptorchidism, Abnormality of the uterus, Decreased testicular size, C... |
ORPHA:2970 |
| Popliteal Pterygium Syndrome |
|
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:119500 |
| Oeis Complex |
|
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... |
OMIM:258040 |
| Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
| Meacham Syndrome |
|
Blind vagina, Bicornuate uterus, Male pseudohermaphroditism, Accessory spleen, Septate vagina, En... |
OMIM:608978 |
| Pagod Syndrome |
|
Agonadism, Abnormality of the spleen, Abnormal morphology of female internal genitalia, Ambiguous... |
ORPHA:991 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Bicornuate uterus, Papillary cystadenoma of the epi... |
ORPHA:93111 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Uterus didelphys, Aplasia of the uterus, Septate vagina |
ORPHA:2237 |
| Acro-Renal-Mandibular Syndrome |
|
Uterus didelphys, Bicornuate uterus |
ORPHA:958 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:609441 |
| 46,Xx Gonadal Dysgenesis |
|
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary |
ORPHA:243 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
| Microsporidiosis |
|
Prostatitis, Pancreatitis, Abnormal endometrium morphology, Urethritis, Lymphadenitis, Peritoniti... |
ORPHA:2552 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Accessory spleen, Gonadal dysgenesis, Clitoral hypoplasia, Hypoplastic ... |
OMIM:618419 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Renal Cysts And Diabetes Syndrome |
|
Exocrine pancreatic insufficiency, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate ute... |
OMIM:137920 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus |
OMIM:222448 |
| Fryns Syndrome |
|
Hypospadias, Cryptorchidism, Aganglionic megacolon, Bicornuate uterus |
ORPHA:2059 |
| Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Bicornuate uterus, Micropenis |
OMIM:264480 |
| Rhombencephalosynapsis |
|
Abnormality of the uterus, Aganglionic megacolon, Septo-optic dysplasia |
ORPHA:59315 |
| Coffin-Siris Syndrome 9 |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Pontocerebellar Hypoplasia Type 7 |
|
Micropenis, Gonadal dysgenesis, Absent penis, Optic atrophy, Ambiguous genitalia, Abnormal scrota... |
ORPHA:284339 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:289548 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Chordee, Streak ovary, Micropenis, Uterus didelphys, Hypospadias, Gonad... |
OMIM:618820 |
| Waardenburg Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus, Aganglionic megacolon |
ORPHA:3440 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal liver lobulation, Abnormal fallopian tube morphology, Abnormality o... |
ORPHA:99776 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... |
OMIM:241080 |
| Beaulieu-Boycott-Innes Syndrome |
|
Endometriosis |
OMIM:613680 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hepatoblastoma, Bicornuate uterus, Micropenis, Hypospadias, Splenopancreatic fusion, Hypoplastic ... |
OMIM:269150 |
| Fanconi Anemia |
|
Absent testis, Cryptorchidism, Bicornuate uterus, Abnormal preputium morphology, Hypospadias, Leu... |
ORPHA:84 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Hepatomegaly, Bicornuate uterus, Precocious puberty, Splenomegaly, Mic... |
OMIM:270400 |
| Opitz Gbbb Syndrome |
|
Bicornuate uterus, Bifid scrotum, Hypospadias, Enlarged ovaries, Shawl scrotum, Cryptorchidism |
ORPHA:2745 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy |
OMIM:309801 |
| Chromosome 17Q12 Deletion Syndrome |
|
Ovarian cyst, Unicornuate uterus, Urethral stenosis, Aplasia of the uterus, Aplasia of the vagina... |
OMIM:614527 |
| Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Micropenis, Streak ovary, Hypoplasia of the fallopian tube, Decreased t... |
ORPHA:3464 |
| Acrorenal-Mandibular Syndrome |
|
Uterus didelphys, Unicornuate uterus, Bicornuate uterus |
OMIM:200980 |
| Alg9-Cdg |
|
Hypoplasia of the ovary, Hepatomegaly, Bicornuate uterus, Periportal fibrosis, Hepatic cysts, Enl... |
ORPHA:79328 |
| Fryns Syndrome |
|
Bicornuate uterus, Bifid scrotum, Hypospadias, Ectopic pancreatic tissue, Shawl scrotum, Cryptorc... |
OMIM:229850 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis |
OMIM:617925 |
| Currarino Syndrome |
|
Rectovaginal fistula, Septate vagina, Bicornuate uterus |
OMIM:176450 |
| Exstrophy-Epispadias Complex |
|
Cystocele, Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Epi... |
ORPHA:322 |
| Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bicornuate uterus, Micropenis, Ambiguous genitalia, Hypoplastic male e... |
OMIM:263650 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus |
ORPHA:140952 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Bicornuate uterus |
OMIM:154400 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Endometriosis, Micropenis |
ORPHA:363444 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Bifid uterus, Accessory spleen, Hypospadias |
OMIM:236680 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the uterus, Aplasia of the vagina, Urethral atresia, Absent external genitalia |
OMIM:271520 |
| Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Hepatic fibrosis |
OMIM:619879 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
| Fraser Syndrome |
|
Abnormal vagina morphology, Urethral atresia, Hypoplasia of penis, Bicornuate uterus, Hypospadias... |
ORPHA:2052 |
| Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
| Fraser Syndrome 1 |
|
Bicornuate uterus, Micropenis, Hypospadias, Abnormality of the thymus, Clitoral hypertrophy, Vagi... |
OMIM:219000 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine prolapse, Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficiency, Anemia |
OMIM:130050 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Bicornuate uterus, Right ventricular hypertrophy, Pulmonary lymphangiectasia, H... |
OMIM:265380 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Agonadism, Aplasia/hypoplasia of the uterus, Non-ob... |
ORPHA:2232 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... |
ORPHA:90794 |
| Meckel Syndrome, Type 1 |
|
Ambiguous genitalia, female, External genital hypoplasia, Ambiguous genitalia, male, Splenomegaly... |
OMIM:249000 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Optic nerve hypoplasia |
ORPHA:457284 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Urethral valve, Cryptorchidism, ... |
OMIM:107480 |
| Ulnar-Mammary Syndrome |
|
Cryptorchidism, Abnormality of the uterus, Hypoplasia of penis |
ORPHA:3138 |
| Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Anemia, Aplasia of the uterus, Micropenis |
OMIM:614083 |
| Cardiac-Urogenital Syndrome |
|
Micropenis, Bifid scrotum, Unilateral cryptorchidism, Accessory spleen, Hepatopulmonary fusion, E... |
OMIM:618280 |
| Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Ulnar-Mammary Syndrome |
|
Bicornuate uterus, Imperforate hymen, Micropenis, Shawl scrotum, Small scrotum |
OMIM:181450 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Hypoplasia of the uterus, Streak ovary |
ORPHA:572333 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Aplasia/hypoplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal... |
ORPHA:96121 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Aplasia of the uterus, Anemia, Thrombocytopenia, ... |
OMIM:274000 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Splenomegaly, Hypospadias, Hypoplasia of the thymus, Abnormality of the tonsils, ... |
ORPHA:567 |
| Roberts-Sc Phocomelia Syndrome |
|
Bicornuate uterus, Hypospadias, Accessory spleen, Long penis, Biliary tract abnormality, Enlarged... |
OMIM:268300 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
| Norrie Disease |
|
Optic atrophy, Cryptorchidism, Uterine rupture |
ORPHA:649 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Uterus didelphys, Congenital hepatic fibrosis, Ambiguous genitalia, Urethrov... |
ORPHA:93271 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Micropenis, Hepatosplenomegaly, Cholestasis, Hemolytic anemia, Congenital Horner syndrome, Unicor... |
OMIM:619503 |
| Cowden Syndrome |
|
Abnormal penis morphology, Enlarged polycystic ovaries, Abnormality of the uterus, Endometrial ca... |
ORPHA:201 |
| Peters-Plus Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Hypoplasia of the vagina, Clitoral hypoplasia, Biliary tra... |
OMIM:261540 |
| Peters Plus Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Clitoral hypoplasia, Optic atrophy, Cryptorchidism |
ORPHA:709 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Bicornuate uterus |
ORPHA:2363 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine prolapse, Uterine rupture, Cystocele, Hypospadias, Cryptorchidism |
ORPHA:286 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Hypospadias, Accessory spleen, Biliary tract abnormality, Aplasia of the uter... |
OMIM:194190 |
| Townes-Brocks Syndrome |
|
Abnormal vagina morphology, Hypoplasia of penis, Bifid scrotum, Hypospadias, Rectoperineal fistul... |
ORPHA:857 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Precocious puberty, Cryptorchidism, Optic disc pallor, Anemia |
ORPHA:438213 |
| Classical Ehlers-Danlos Syndrome |
|
Uterine prolapse, Orthostatic hypotension, Cervical insufficiency |
ORPHA:287 |
| Coffin-Siris Syndrome 1 |
|
Aplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypertrophy |
OMIM:135900 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the uterus, Cryptorchidism, Hypoplastic labia ma... |
ORPHA:199 |
| Pallister-Hall Syndrome |
|
Precocious puberty, Micropenis, Hydrometrocolpos, Hypospadias, Aplasia/hypoplasia of the uterus, ... |
ORPHA:672 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Hypospadias, Aplasia of the uterus, Cryptorchidism, Small scrotum |
OMIM:276820 |
| Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
| Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse, Left ventricular hypertrophy |
ORPHA:284984 |
| Loeys-Dietz Syndrome 3 |
|
Uterine prolapse, Left ventricular hypertrophy, Cystocele |
OMIM:613795 |
| Pallister-Killian Syndrome |
|
Labial hypoplasia, Hypospadias, Aplasia of the upper vagina, Hypoplastic labia majora, Aplasia of... |
OMIM:601803 |
