Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Ovarian Dysgenesis 2 |
|
Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Gonad... |
OMIM:300510 |
Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... |
ORPHA:457083 |
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 |
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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 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Abnorma... |
OMIM:273250 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Ovarian neoplasm, Abnormal fallopian tube morphology, Neoplasm of the pancreas, Prostate cancer |
ORPHA:145 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Leydig Cell Hypoplasia |
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Hypospadias, Hyoplasia of the Leydig cells, Aplasia of the uterus, Abnormal internal genitalia, A... |
ORPHA:755 |
Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Gonadal dysgenesis, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:612964 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Abnormal reproductive system morphology, Abnormality of the u... |
ORPHA:1916 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Micropenis, Cryptorchidism, Decreased testicular size... |
OMIM:614837 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Partial vaginal septum, Uterus didelphys, Hematocolpos |
OMIM:192050 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
Perrault Syndrome 6 |
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Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:617565 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube |
OMIM:158330 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
Hydatidiform Mole |
|
Anemia, Enlarged uterus |
ORPHA:99927 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female in... |
ORPHA:99429 |
Amed Syndrome, Digenic |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Thrombocytopenia, Hypopl... |
OMIM:619151 |
Testicular Agenesis |
|
Vanishing testis, Urethrovaginal fistula, Abnormal vas deferens morphology, Absent testis, Urogen... |
ORPHA:325124 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Aplasia of the uterus, Bifid scrotum, Fused labia majora, Azoospermia, Urogenital si... |
ORPHA:90797 |
Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Premature ovarian insufficiency |
OMIM:612310 |
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 |
Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Gracile Bone Dysplasia |
|
Micropenis, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Mirage Syndrome |
|
Hypospadias, Leukopenia, Anemia, Lymphopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, C... |
OMIM:617053 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
Hymen, Imperforate |
|
Hydrocolpos, Imperforate hymen, Hematocolpos |
OMIM:237100 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen, Hypoplasia of the u... |
OMIM:601186 |
Lumbar Syndrome |
|
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... |
ORPHA:83628 |
Cardiac-Urogenital Syndrome |
|
Aplasia of the uterus, Bifid scrotum, Accessory spleen, Hepatopulmonary fusion, Micropenis, Ambig... |
OMIM:618280 |
Perrault Syndrome 4 |
|
Bicornuate uterus, Hypoplasia of the ovary, Premature ovarian insufficiency, Hypoplasia of the ut... |
OMIM:615300 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Bifid uterus |
OMIM:617466 |
Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Hypoplasia of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
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 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina |
OMIM:146255 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus |
ORPHA:247768 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Sex reversal, Abnormal vagina morphology,... |
ORPHA:289548 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Azoospermia, Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Micropenis, Male hypogonadis... |
ORPHA:432 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Precocious puberty in males, Long penis, Ambiguous genitalia, female, Hypoplasia of the vagina, C... |
OMIM:202010 |
Kennerknecht Syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
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 |
Oeis Complex |
|
Bifid uterus, Vesicovaginal fistula, Labial hypoplasia, Rectovaginal fistula, Absent scrotum, Amb... |
OMIM:258040 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia, Aplasia of the uterus |
ORPHA:3320 |
Popliteal Pterygium Syndrome |
|
Hypoplastic labia majora, Bifid scrotum, Hypoplasia of the vagina, Cryptorchidism, Hypoplasia of ... |
OMIM:119500 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys |
ORPHA:2237 |
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Aplasia of the uterus, Urethral atresia, Absent external genitalia, Cryptorchidism, Persistent cl... |
ORPHA:94095 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina |
OMIM:271520 |
Pearson Syndrome |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Macronodular cirrhosis, Bone marrow hypocellularity,... |
ORPHA:699 |
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 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Aplasia of the uterus, Pancreatic cysts, Anemia, Hepatosplenomegaly, Thrombocytopen... |
OMIM:274000 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Pontocerebellar Hypoplasia Type 7 |
|
Aplasia of the uterus, Absent penis, Microphallus, Clitoral hypertrophy, Abnormal scrotal rugatio... |
ORPHA:284339 |
Woodhouse-Sakati Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, Micropenis, Premature ovarian in... |
OMIM:241080 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Epididymal cyst, Bicornuate uterus, Exo... |
OMIM:137920 |
Chromosome 17Q12 Deletion Syndrome |
|
Aplasia of the uterus, Urethral stenosis, Aplasia of the vagina, Unicornuate uterus, Cryptorchidi... |
OMIM:614527 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypogonadism, Micropenis, Abnormal spermatogenesi... |
ORPHA:3464 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Chordee, Clitoral hypertrophy, Micropenis, Ovotestis, Hypoplasia of the uterus |
OMIM:309801 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:110100 |
Hydrolethalus Syndrome 1 |
|
Hypospadias, Accessory spleen, Abnormal vagina morphology, Bifid uterus |
OMIM:236680 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Absent penis, Bifid penis, Penoscrotal transposition, Cystocele, Cry... |
ORPHA:322 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Aplasia of the uterus |
ORPHA:69085 |
Okamoto Syndrome |
|
Bifid uterus, Splenomegaly |
ORPHA:2729 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Aplasia of the uterus, Accessory spleen, Cryptorchidism, Biliary tract abnormality, ... |
OMIM:194190 |
Townes-Brocks Syndrome 1 |
|
Hypospadias, Urethral valve, Bifid scrotum, Bifid uterus, Rectovaginal fistula, Rectoperineal fis... |
OMIM:107480 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine rupture, Cervical insufficiency, Anemia, Uterine prolapse, Cystocele, Cryptorchidism |
OMIM:130050 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Polycystic ovaries, Premature ovarian insufficiency, Hypergonadotropic hypogonadism... |
ORPHA:572333 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Bifid uterus, Leukemia, Papillary cystadenoma of the epididymis, Premature thelarche... |
OMIM:180849 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Cryptorchidism, Clitoral hypertrophy, Aplasia of the uterus |
OMIM:135900 |
Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Aplasia of the uterus, Anteriorly displaced genitalia, Cryptorchidism |
OMIM:276820 |
Peters-Plus Syndrome |
|
Hypospadias, Hypoplastic labia majora, Hypoplasia of the vagina, Bilobate gallbladder, Clitoral h... |
OMIM:261540 |
Norrie Disease |
|
Uterine rupture, Cryptorchidism |
ORPHA:649 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Uterine rupture, Uterine prolapse, Cystocele, Cryptorchidism |
ORPHA:286 |
Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Hypoplasia of the uterus |
ORPHA:709 |
Pallister-Killian Syndrome |
|
Hypospadias, Hypoplastic labia majora, Aplasia of the uterus, Small scrotum, Aplasia of the upper... |
OMIM:601803 |