Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Microphthalmia, Isolated, With Coloboma 10 |
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Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
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Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Microphthalmia, Syndromic 12 |
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Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism |
OMIM:615524 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Anophthalmia |
OMIM:611038 |
Microphthalmia, Isolated 8 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:600776 |
Oculocerebrocutaneous Syndrome |
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Microphthalmia, Anophthalmia, Cryptorchidism |
OMIM:164180 |
Meckel Syndrome, Type 8 |
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Ambiguous genitalia, Microphthalmia, Anophthalmia |
OMIM:613885 |
Anencephaly 2 |
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Anophthalmia |
OMIM:619452 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Inability to walk, Anophthalmia |
ORPHA:411986 |
Trisomy 13 |
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Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Optic atrophy, Aplasia/Hypopla... |
ORPHA:3378 |
Microphthalmia, Syndromic 5 |
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Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:610125 |
Hydrolethalus |
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Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:2189 |
Cockayne Syndrome Type 2 |
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Anophthalmia, Ataxia, Cryptorchidism, Gait disturbance, Difficulty walking, Male hypogonadism |
ORPHA:90322 |
Matthew-Wood Syndrome |
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Microphthalmia, Anophthalmia, Abnormality of the uterus, Cryptorchidism |
ORPHA:2470 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia |
ORPHA:77298 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia, Vaginal atresia |
OMIM:248450 |
Cerebrooculonasal Syndrome |
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Hypoplasia of penis, Anophthalmia |
ORPHA:66625 |
Microphthalmia With Brain And Digit Anomalies |
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Microphthalmia, Anophthalmia, Cryptorchidism |
ORPHA:139471 |
46,Xy Sex Reversal 3 |
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Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Cockayne Syndrome Type 1 |
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Absent brainstem auditory responses, Anophthalmia, Ataxia, Cryptorchidism, Optic atrophy, Gait di... |
ORPHA:90321 |
Anophthalmia Plus Syndrome |
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Anophthalmia |
ORPHA:1104 |
Walker-Warburg Syndrome |
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Hypoplasia of penis, Anophthalmia, Cryptorchidism, Optic atrophy, Microphthalmia |
ORPHA:899 |
Trisomy 1Q |
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Ambiguous genitalia, Cryptorchidism, Anophthalmia, Small scrotum |
ORPHA:261344 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Anophthalmia, Unilateral cryptorchidism |
OMIM:206920 |
Solitary Median Maxillary Central Incisor |
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Microphthalmia, Anophthalmia |
OMIM:147250 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
46,Xy Sex Reversal 11 |
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Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Leydig Cell Hypoplasia |
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Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601186 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Microphthalmia, Syndromic 3 |
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Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hypospa... |
OMIM:206900 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... |
ORPHA:2250 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias |
OMIM:615877 |
Vacterl With Hydrocephalus |
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Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology |
ORPHA:3412 |
46,Xy Sex Reversal 7 |
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Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Partial Androgen Insensitivity Syndrome |
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Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
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Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Diethylstilbestrol Syndrome |
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Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Joubert Syndrome 21 |
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Optic atrophy, Anophthalmia, Ataxia, Megalopapilla |
OMIM:615636 |
Meckel Syndrome |
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Anophthalmia, True hermaphroditism, Cryptorchidism, Male pseudohermaphroditism, Optic atrophy, Ap... |
ORPHA:564 |
46,Xx Sex Reversal 2 |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Fibular Hemimelia |
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Anophthalmia, Difficulty walking |
ORPHA:93323 |
Cerebrooculonasal Syndrome |
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Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia |
OMIM:605627 |
Holoprosencephaly |
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Hypoplasia of penis, Anophthalmia, Cryptorchidism, Optic atrophy, Microphthalmia |
ORPHA:2162 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Anophthalmia, Small scrotum, Cryptorchidism |
ORPHA:264200 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Aniridia, Cryptorchidism, Anophthalmia |
ORPHA:1101 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... |
ORPHA:2556 |
Charge Syndrome |
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Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Optic a... |
ORPHA:138 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Fraser Syndrome |
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Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... |
ORPHA:2052 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Holoprosencephaly 9 |
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Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis |
OMIM:610829 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula |
ORPHA:2538 |
Fraser Syndrome 1 |
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Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Bicornuate uterus, Micropeni... |
OMIM:219000 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Anophthalmia, Optic atrophy |
ORPHA:2526 |
Renal And Mullerian Duct Hypoplasia |
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Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Proboscis Lateralis |
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Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia, Optic disc coloboma, Microphth... |
ORPHA:141099 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
Focal Dermal Hypoplasia |
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Anophthalmia, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Labial hypoplasia, Aniridia, Mi... |
OMIM:305600 |
Microphthalmia, Syndromic 2 |
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Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Microphthalmia |
OMIM:300166 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Optic atrophy, True anophthalmia, Cryptorchidism |
ORPHA:1106 |
Hydatidiform Mole |
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Enlarged uterus |
ORPHA:99927 |
Lumbar Syndrome |
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Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Charge Syndrome |
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Anophthalmia, Hypogonadotropic hypogonadism, Facial palsy, External genital hypoplasia, Cryptorch... |
OMIM:214800 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Microphthalmia, Syndromic 6 |
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Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microphthalmia |
OMIM:607932 |
Meckel Syndrome 14 |
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Ambiguous genitalia, Microphthalmia, Aplasia of the uterus |
OMIM:619879 |
Townes-Brocks Syndrome 2 |
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Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Branchiooculofacial Syndrome |
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Anophthalmia, Hypospadias, Facial palsy, Cryptorchidism, Microphthalmia |
OMIM:113620 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Oeis Complex |
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Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Fanconi Anemia, Complementation Group L |
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Microphthalmia, Micropenis, Aplasia of the uterus |
OMIM:614083 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Aganglionic megacolon, Hypospadias, Cryptorchidism, Optic disc coloboma, Microphtha... |
OMIM:309800 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
ORPHA:3320 |
Chromosome 17Q12 Deletion Syndrome |
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Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Phocomelia, Schinzel Type |
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Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Craniofacial Microsomia 1 |
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Microphthalmia, Anophthalmia |
OMIM:164210 |
Hydrolethalus Syndrome 1 |
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Microphthalmia, Abnormal vagina morphology, Hypospadias, Bifid uterus |
OMIM:236680 |
Norrie Disease |
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Aplasia/Hypoplasia of the lens, Cryptorchidism, Optic atrophy, Hypoplasia of the iris, Uterine ru... |
ORPHA:649 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Limb-Mammary Syndrome |
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Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
OMIM:274000 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
Wolf-Hirschhorn Syndrome |
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Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus |
OMIM:194190 |
Neu-Laxova Syndrome 1 |
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Cryptorchidism, Microphthalmia, Bifid uterus |
OMIM:256520 |
Coffin-Siris Syndrome 1 |
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Hypospadias, Cryptorchidism, Gait ataxia, Aplasia of the uterus, Clitoral hypertrophy |
OMIM:135900 |
Okamoto Syndrome |
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Bifid uterus, Abnormally large globe |
ORPHA:2729 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
Pallister-Killian Syndrome |
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Small scrotum, Hypospadias, Inability to walk, Cryptorchidism, Hypoplastic labia majora, Aplasia ... |
OMIM:601803 |