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 |
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Hypoplasia of penis, Hypospadias, Abnormality of the uterus, Cryptorchidism, Hypoplastic labia ma... |
ORPHA:199 |
Pallister-Hall Syndrome |
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Precocious puberty, Micropenis, Hydrometrocolpos, Hypospadias, Aplasia/hypoplasia of the uterus, ... |
ORPHA:672 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Anteriorly displaced genitalia, Hypospadias, Aplasia of the uterus, Cryptorchidism, Small scrotum |
OMIM:276820 |
Coffin-Lowry Syndrome |
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Uterine prolapse |
OMIM:303600 |
Aneurysm-Osteoarthritis Syndrome |
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Uterine prolapse, Left ventricular hypertrophy |
ORPHA:284984 |
Loeys-Dietz Syndrome 3 |
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Uterine prolapse, Left ventricular hypertrophy, Cystocele |
OMIM:613795 |
Pallister-Killian Syndrome |
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Labial hypoplasia, Hypospadias, Aplasia of the upper vagina, Hypoplastic labia majora, Aplasia of... |
OMIM:601803 |