Neutrophilia, Hereditary |
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Neutrophilia, Splenomegaly |
OMIM:162830 |
Testicular Regression Syndrome |
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Ambiguous genitalia, Decreased testicular size, Abnormal male internal genitalia morphology, Hypo... |
ORPHA:983 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
46,Xy Sex Reversal 3 |
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Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Gonadal dysgenesis, Exaggerated rugos... |
OMIM:612965 |
Leydig Cell Hypoplasia |
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Female hypogonadism, Testicular gonadoblastoma, Ambiguous genitalia, Hyoplasia of the Leydig cell... |
ORPHA:755 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male internal genitalia mo... |
ORPHA:2138 |
46,Xy Sex Reversal 11 |
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Urogenital sinus anomaly, Aplasia of the uterus, Abnormal internal genitalia, Vanishing testis, G... |
OMIM:273250 |
Renal And Mullerian Duct Hypoplasia |
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Anteriorly displaced urethral meatus, Hydrocele testis, Aplasia of the uterus, Horseshoe kidney, ... |
OMIM:266810 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Gonadoblastoma, Abnormality of female external genitalia, Male hypogonadism, Hypoplasia of the ut... |
ORPHA:168563 |
Partial Androgen Insensitivity Syndrome |
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Urogenital sinus anomaly, Ambiguous genitalia, Aplasia of the ovary, Bifid scrotum, Fused labia m... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
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Bilateral cryptorchidism, Aplasia of the uterus, Abnormal uterine cervix morphology, Aplasia/Hypo... |
ORPHA:99429 |
Diethylstilbestrol Syndrome |
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Abnormal testis morphology, Vaginal neoplasm, Epididymal cyst, Abnormality of the uterus, Hypospa... |
ORPHA:1916 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the vagina, Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the u... |
OMIM:158330 |
Adult Idiopathic Neutropenia |
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Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Immunodeficiency 14B, Autosomal Recessive |
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B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Ovarian Dysgenesis 6 |
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Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:618078 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Bicornuate uterus, Azoospermia, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus |
OMIM:601076 |
Amed Syndrome, Digenic |
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Acute myeloid leukemia, Leukopenia, Anemia, Thrombocytopenia, Hypoplasia of the uterus |
OMIM:619151 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Decreased testicular size, Hypoplasia of the ovary, Cryptorchidism, Hypogonadotropic hypogonadism... |
OMIM:614841 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Nephrotic syndrome, Nephrocalcinosis, Hematuria, Distal renal tubular acidosis, Proximal renal tu... |
OMIM:146255 |
Immunodeficiency 32B |
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Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Premature Ovarian Failure 7 |
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Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:612964 |
46,Xy Sex Reversal 7 |
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Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
Testicular Agenesis |
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Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
Ovarian Dysgenesis 2 |
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Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:300510 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
46,Xx Sex Reversal 2 |
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Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Ovotest... |
OMIM:278850 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Aplasia of the uterus, Horse... |
ORPHA:3109 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Hydatidiform Mole |
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Anemia, Enlarged uterus |
ORPHA:99927 |
Lumbar Syndrome |
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Vesicoureteral reflux, Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus... |
ORPHA:83628 |
Deafness-Lymphedema-Leukemia Syndrome |
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Abnormal neutrophil count, Leukocytosis, Myeloproliferative disorder, Thrombocytopenia, Acute leu... |
ORPHA:3226 |
Perrault Syndrome 3 |
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Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Bifid scrotum, Bil... |
ORPHA:90793 |
Perrault Syndrome 6 |
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Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Urogenital sinus anomaly, Abnormal urine potassium concentration, Midshaft hypospadias, Sex rever... |
ORPHA:168558 |
46,Xy Sex Reversal 4 |
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Hydronephrosis, Sex reversal, Hypoplastic labia majora, Agonadism, Ureteropelvic junction obstruc... |
OMIM:154230 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Urogenital sinus anomaly, Abnormal urine potassium concentration, Midshaft hypospadias, Sex rever... |
ORPHA:289548 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Vesicoureteral reflux, Polycystic kidney dysplasia, Unilateral renal agenesis, Vaginal atresia, A... |
ORPHA:2237 |
Townes-Brocks Syndrome 2 |
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Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias, Bifid uterus, Rectovaginal fistula |
OMIM:617466 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Satoyoshi Syndrome |
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Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Hypoplasia of the u... |
ORPHA:3130 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Microcephaly 20, Primary, Autosomal Recessive |
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Ureteral agenesis, Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus |
OMIM:617914 |
Meckel Syndrome 12 |
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Renal hypoplasia, Vaginal atresia, Ureteral hypoplasia, Hypoplasia of the uterus |
OMIM:616258 |
Premature Ovarian Failure 6 |
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Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Anemia, Brain abscess, Abnormal testis morphology, Liver abscess, Neutrophilia |
ORPHA:54251 |
Oeis Complex |
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Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Hydroureter, Ambiguous genita... |
OMIM:258040 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Chromosome 17Q12 Deletion Syndrome |
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Unicornuate uterus, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Unilateral rena... |
OMIM:614527 |
Premature Ovarian Failure 18 |
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Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619203 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:619665 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Female hypogonadism, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, Male hy... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Müllerian Aplasia And Hyperandrogenism |
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Abnormal vagina morphology, Abnormality of the ovary, Hypoplasia of the uterus |
ORPHA:247768 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Perrault Syndrome 4 |
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Bicornuate uterus, Hypoplasia of the ovary, Hypoplasia of the uterus |
OMIM:615300 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus, Thrombocytopenia, Horseshoe kidney |
ORPHA:3320 |
Renal Cysts And Diabetes Syndrome |
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Atretic vas deferens, Bicornuate uterus, Stage 5 chronic kidney disease, Glycosuria, Unilateral r... |
OMIM:137920 |
Microphthalmia, Syndromic 9 |
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Hydronephrosis, Bicornuate uterus, Multilobulated spleen, Pelvic kidney, Horseshoe kidney, Crypto... |
OMIM:601186 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Ambiguous genitalia, female, Hypoplasia of the vagina, Decreased testicular size, Precocious pube... |
OMIM:202010 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Enlarged polycystic ovaries, Hypoplasia of the vagina, Decreased testicular size, Ambiguous genit... |
ORPHA:90796 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Urethral atresia, Absent external genitalia, Aplasia of the uterus, Aplasia of the vagina, Hydron... |
OMIM:271520 |
Fanconi Anemia, Complementation Group L |
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Anemia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Micropenis |
OMIM:614083 |
Exstrophy-Epispadias Complex |
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Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Absent penis, Bifid scrotum, Peno... |
ORPHA:322 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Precocious puberty in females, Urogenital sinus anomaly, Ambiguous genitalia, Ambiguous genitalia... |
ORPHA:90794 |
Meckel Syndrome 14 |
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Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Thrombocytopenia-Absent Radius Syndrome |
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Vesicoureteral reflux, Anemia, Hepatosplenomegaly, Aplasia of the uterus, Horseshoe kidney, Leuko... |
OMIM:274000 |
Estrogen Resistance |
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Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
Pontocerebellar Hypoplasia Type 7 |
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Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... |
ORPHA:284339 |
Popliteal Pterygium Syndrome |
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Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... |
OMIM:119500 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Hypoplastic labia majora, Unilateral renal agenesis, Clitoral hypoplasia, Accessory spleen, Gonad... |
OMIM:618419 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis |
ORPHA:457284 |
Cardiac-Urogenital Syndrome |
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Ambiguous genitalia, Bifid scrotum, Enlarged kidney, Patent urachus, Unilateral cryptorchidism, A... |
OMIM:618280 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Phocomelia, Schinzel Type |
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Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hypospadias, Hypoplasia of the uterus, Ovotestis, Micropenis, Clitoral hypertrophy, Chordee |
OMIM:309801 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
Woodhouse-Sakati Syndrome |
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Decreased testicular size, Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Hypo... |
OMIM:241080 |
Woodhouse-Sakati Syndrome |
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Abnormal spermatogenesis, Hypogonadism, Decreased testicular size, Hypoplasia of the fallopian tu... |
ORPHA:3464 |
Okamoto Syndrome |
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Urinary incontinence, Bifid uterus, Ureteropelvic junction obstruction, Unilateral renal hypoplas... |
ORPHA:2729 |
Townes-Brocks Syndrome 1 |
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Vesicoureteral reflux, Multicystic kidney dysplasia, Renal insufficiency, Bifid scrotum, Rectoper... |
OMIM:107480 |
Coffin-Siris Syndrome 1 |
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Hydroureter, Ectopic kidney, Aplasia of the uterus, Hypospadias, Cryptorchidism, Renal hypoplasia... |
OMIM:135900 |
Limb-Mammary Syndrome |
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Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Ambiguous genitalia, Vesicovaginal fistula, Bifid scrotum, Fused labia majora, Labial hypoplasia,... |
OMIM:201750 |
Ehlers-Danlos Syndrome, Vascular Type |
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Anemia, Cervical insufficiency, Uterine rupture, Cryptorchidism, Cystocele, Uterine prolapse |
OMIM:130050 |
Hydrolethalus Syndrome 1 |
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Abnormal vagina morphology, Bifid uterus, Hypospadias, Accessory spleen, Hydronephrosis |
OMIM:236680 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Aplasia of the uterus, Hypospadias, Accessory spleen, Cryptorchidism |
OMIM:194190 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Small scrotum |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
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Bifid uterus, Cryptorchidism |
OMIM:256520 |
Vascular Ehlers-Danlos Syndrome |
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Uterine rupture, Bladder diverticulum, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse, ... |
ORPHA:286 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Norrie Disease |
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Uterine rupture, Cryptorchidism |
ORPHA:649 |
Pallister-Killian Syndrome |
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Labial hypoplasia, Aplasia of the upper vagina, Hypoplastic labia majora, Renal cyst, Aplasia of ... |
OMIM:601803 |