Uterine Anomalies |
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Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widening, Flared ... |
ORPHA:2502 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small epiphyses, Short low... |
ORPHA:93356 |
Testicular Regression Syndrome |
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Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
46,Xy Sex Reversal 3 |
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Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... |
OMIM:300106 |
Caffey Disease |
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Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal bon... |
OMIM:114000 |
Osteosclerosis With Ichthyosis And Fractures |
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Femoral bowing, Cortical thickening of long bone diaphyses, Increased bone mineral density, Tibia... |
OMIM:166740 |
46,Xy Sex Reversal 11 |
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Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
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 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
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Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm |
ORPHA:145 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Léri-Weill Dyschondrosteosis |
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Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Diethylstilbestrol Syndrome |
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Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive system morphology... |
ORPHA:1916 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
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Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Leydig Cell Hypoplasia |
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Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Leri-Weill Dyschondrosteosis |
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Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
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 |
Ovarian Dysgenesis 2 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
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 |
Premature Ovarian Failure 7 |
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Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... |
OMIM:602111 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
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Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
Fibular Hemimelia |
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Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Complete Androgen Insensitivity Syndrome |
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Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Inguinal hernia, Long fibula, Abnormal metaphysis morphology, Reduced bone mineral density |
ORPHA:935 |
Partial Androgen Insensitivity Syndrome |
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Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Osteomalacia, Bowing of the legs, Enamel hypomineralization, Ricket... |
OMIM:307800 |
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 |
46,Xx Sex Reversal 2 |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Perrault Syndrome 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Short metacarpal, Broad long bones, Micromelia, Bowing of the legs, Hip subluxation, Metatarsus a... |
OMIM:271665 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
Perrault Syndrome 3 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Vaginal Atresia |
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Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Renal And Mullerian Duct Hypoplasia |
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Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Hydatidiform Mole |
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Enlarged uterus |
ORPHA:99927 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Premature Ovarian Failure 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
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Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irregular epiphys... |
OMIM:610442 |
Premature Ovarian Failure 18 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
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Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Omphalocele, Bifid uterus |
ORPHA:2736 |
Perrault Syndrome 4 |
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Hypoplasia of the uterus, Bicornuate uterus, Obesity, Hypoplasia of the ovary |
OMIM:615300 |
Müllerian Aplasia And Hyperandrogenism |
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Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Obesity |
ORPHA:247768 |
Satoyoshi Syndrome |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Lumbar Syndrome |
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Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
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 |
Amed Syndrome, Digenic |
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Hypoplasia of the uterus, Failure to thrive |
OMIM:619151 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... |
ORPHA:432 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, ... |
ORPHA:168558 |
Townes-Brocks Syndrome 2 |
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Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Failure to thrive, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, ... |
ORPHA:289548 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
46,Xy Sex Reversal 4 |
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Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Meckel Syndrome 12 |
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Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Vaginal atresia |
OMIM:616258 |
Seckel Syndrome 7 |
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Hypoplasia of the uterus |
OMIM:614851 |
Satoyoshi Syndrome |
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Hypoplasia of the uterus |
OMIM:600705 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Oeis Complex |
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Omphalocele, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal... |
OMIM:258040 |
Estrogen Resistance |
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Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Meckel Syndrome 14 |
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Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus |
OMIM:619879 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Microcephaly 20, Primary, Autosomal Recessive |
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Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
Popliteal Pterygium Syndrome |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
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 |
Renal Cysts And Diabetes Syndrome |
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Elevated hepatic transaminase, Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, ... |
OMIM:137920 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Omphalocele, Accessory spleen, Small for gestational age, Hypoplastic labia majora, Hypoplasia of... |
OMIM:618419 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryp... |
OMIM:618280 |
Microphthalmia, Syndromic 9 |
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Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Hypoplas... |
OMIM:601186 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
ORPHA:3320 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Estrogen Resistance Syndrome |
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Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Chromosome 17Q12 Deletion Syndrome |
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Elevated hepatic transaminase, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of th... |
OMIM:614527 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hypoplasia of the uterus, Chordee, Micro... |
OMIM:309801 |
Acromesomelic Dysplasia 3 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Omphalocele, Inguinal hernia, Bifid uterus, Epispadias, Cryptorchidism, Cystocele,... |
ORPHA:322 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Phocomelia, Schinzel Type |
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Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Fanconi Anemia, Complementation Group L |
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Micropenis, Aplasia of the uterus |
OMIM:614083 |
Woodhouse-Sakati Syndrome |
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Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Hypoplasia of the uterus |
OMIM:110100 |
Thrombocytopenia-Absent Radius Syndrome |
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Pancreatic cysts, Aplasia of the uterus, Hepatosplenomegaly |
OMIM:274000 |
Limb-Mammary Syndrome |
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Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Hydrolethalus Syndrome 1 |
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Omphalocele, Accessory spleen, Hypospadias, Bifid uterus, Abnormal vagina morphology |
OMIM:236680 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Bil... |
OMIM:194190 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Small for gestational age, Cryptor... |
OMIM:201750 |
Ehlers-Danlos Syndrome, Vascular Type |
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Inguinal hernia, Cryptorchidism, Cystocele, Cigarette-paper scars, Cervical insufficiency, Uterin... |
OMIM:130050 |
Loeys-Dietz Syndrome |
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Atypical scarring of skin, Camptodactyly of finger, Uterine rupture |
ORPHA:60030 |
Neu-Laxova Syndrome 1 |
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Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin, Camptodacty... |
OMIM:256520 |
Coffin-Siris Syndrome 1 |
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Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the ute... |
OMIM:135900 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... |
OMIM:107480 |
Okamoto Syndrome |
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Omphalocele, Splenomegaly, Bifid uterus |
ORPHA:2729 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Anteriorly displaced genit... |
OMIM:276820 |
Peters-Plus Syndrome |
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Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnorm... |
OMIM:261540 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
Norrie Disease |
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Cryptorchidism, Failure to thrive, Cachexia, Uterine rupture |
ORPHA:649 |
Pallister-Killian Syndrome |
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Omphalocele, Inguinal hernia, Small scrotum, Hypospadias, Congenital diaphragmatic hernia, Crypto... |
OMIM:601803 |
Vascular Ehlers-Danlos Syndrome |
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Inguinal hernia, Hypospadias, Cryptorchidism, Cystocele, Cigarette-paper scars, Uterine rupture, ... |
ORPHA:286 |