Immunodeficiency 53 |
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Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Neutrophilia, Hereditary |
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Splenomegaly, Neutrophilia |
OMIM:162830 |
Specific Granule Deficiency 1 |
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Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
Testicular Regression Syndrome |
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Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
46,Xy Sex Reversal 3 |
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Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
Leydig Cell Hypoplasia |
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Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T... |
ORPHA:755 |
46,Xy Sex Reversal 11 |
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Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
46,Xx Ovotesticular Difference Of Sex Development |
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Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
Renal And Mullerian Duct Hypoplasia |
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Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... |
OMIM:266810 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... |
ORPHA:168563 |
Partial Androgen Insensitivity Syndrome |
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Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
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Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Mullerian Aplasia And Hyperandrogenism |
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Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the u... |
OMIM:158330 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Unilateral renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Ectopic kidney |
OMIM:601076 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
Amed Syndrome, Digenic |
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Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Hypoplasia of the uterus |
OMIM:619151 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Chronic kidney disease, Nephrocalcinosis, Uterus didelphys, Septate vagina, Distal renal tubular ... |
OMIM:146255 |
Immunodeficiency 32B |
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Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... |
OMIM:226990 |
Premature Ovarian Failure 7 |
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Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
46,Xy Sex Reversal 7 |
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Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Testicular Agenesis |
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Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Ovarian Dysgenesis 2 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... |
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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Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Hypoplastic labia majora, Ambiguous genital... |
ORPHA:83628 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Increased urinary 11-deoxycorticosterone level, Male hypogonadism, Precocious puberty in females,... |
ORPHA:90793 |
Perrault Syndrome 3 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Deafness-Lymphedema-Leukemia Syndrome |
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Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... |
ORPHA:3226 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ... |
ORPHA:168558 |
Perrault Syndrome 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Renal salt wasting, Abnormality of the Leydig cells, ... |
ORPHA:289548 |
46,Xy Sex Reversal 4 |
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Gonadal dysgenesis, Ureteropelvic junction obstruction, Hydronephrosis, Hypoplastic labia majora,... |
OMIM:154230 |
46,Xx Sex Reversal 2 |
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Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal insufficiency, Vesicoureteral ... |
ORPHA:2237 |
Microcephaly 20, Primary, Autosomal Recessive |
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Vaginal atresia, Ureteral agenesis, Hypoplasia of the uterus, Renal hypoplasia |
OMIM:617914 |
Townes-Brocks Syndrome 2 |
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Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Meckel Syndrome 12 |
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Vaginal atresia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral hypoplasia |
OMIM:616258 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
Satoyoshi Syndrome |
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Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
Relapsing Fever |
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Acute kidney injury, Leukopenia, Leukocytosis, Hematuria, Thrombocytopenia, Neutrophilia, Anemia |
ORPHA:91547 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Premature Ovarian Failure 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Oeis Complex |
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Hydroureter, Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Hydronephrosis, Ambiguo... |
OMIM:258040 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Chromosome 17Q12 Deletion Syndrome |
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Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Stage 5 chronic kidney... |
OMIM:614527 |
Premature Ovarian Failure 18 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Abnormal testis morphology, Neutrophilia, Anemia, Liver abscess |
ORPHA:54251 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... |
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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Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology |
ORPHA:247768 |
Perrault Syndrome 4 |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus |
OMIM:615300 |
Thrombocytopenia-Absent Radius Syndrome |
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Horseshoe kidney, Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
Renal Cysts And Diabetes Syndrome |
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Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... |
OMIM:137920 |
Microphthalmia, Syndromic 9 |
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Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Hydronephrosis, Pelvic... |
OMIM:601186 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo... |
OMIM:202010 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig... |
ORPHA:90796 |
Fanconi Anemia, Complementation Group L |
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Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Anemia, Micropenis |
OMIM:614083 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Absent external genitalia, Aplasia of the vagina, Hydronephrosis, Aplasia of the uterus, Urethral... |
OMIM:271520 |
Acute Generalized Exanthematous Pustulosis |
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Renal insufficiency, Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia |
ORPHA:293173 |
Exstrophy-Epispadias Complex |
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Penoscrotal transposition, Urinary incontinence, Renal hypoplasia, Bifid scrotum, Horseshoe kidne... |
ORPHA:322 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Clitoral hypertrophy, Long penis, Precocious puberty in females, Hypernatriuria, Decreased testic... |
ORPHA:90794 |
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 |
Meckel Syndrome 14 |
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Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia |
OMIM:619879 |
Thrombocytopenia-Absent Radius Syndrome |
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Horseshoe kidney, Hepatosplenomegaly, Leukocytosis, Vesicoureteral reflux, Aplasia of the uterus,... |
OMIM:274000 |
Estrogen Resistance |
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Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
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Neutrophilia, Minimal change glomerulonephritis, Leukocytosis, Autoimmune hemolytic anemia, Splen... |
OMIM:620565 |
Cardiac-Urogenital Syndrome |
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Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... |
OMIM:618280 |
Pontocerebellar Hypoplasia Type 7 |
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Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
Popliteal Pterygium Syndrome |
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Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... |
OMIM:119500 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Accessory spleen, Unilateral renal agenesis, Gonadal dysgenesis, Hypoplastic labia majora, Hypopl... |
OMIM:618419 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina |
ORPHA:457284 |
Estrogen Resistance Syndrome |
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Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
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 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
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Hypoplasia of the uterus |
OMIM:615866 |
Acromesomelic Dysplasia 3 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias |
OMIM:309801 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Woodhouse-Sakati Syndrome |
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Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, H... |
OMIM:241080 |
Okamoto Syndrome |
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Urinary incontinence, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomega... |
ORPHA:2729 |
Woodhouse-Sakati Syndrome |
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Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo... |
ORPHA:3464 |
Townes-Brocks Syndrome 1 |
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Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Bifid scrotum, Renal insufficienc... |
OMIM:107480 |
Coffin-Siris Syndrome 1 |
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Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Cryptorchidism, Hydronephrosis, Aplasia of t... |
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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Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Horseshoe kidney, Cryp... |
OMIM:201750 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Abnormal vagina morphology, Hydronephrosis, Bifid uterus, Hypospadias |
OMIM:236680 |
Ehlers-Danlos Syndrome, Vascular Type |
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Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Anemia, Cervical insufficiency |
OMIM:130050 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Accessory spleen, Cryptorchidism, Aplasia of the uterus, Hypospadias |
OMIM:194190 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Hypoplasia of the uterus |
OMIM:110100 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
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Bifid uterus, Cryptorchidism |
OMIM:256520 |
Peters-Plus Syndrome |
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Renal hypoplasia, Cryptorchidism, Hydronephrosis, Hypoplastic labia majora, Hypoplasia of the vag... |
OMIM:261540 |
Peters Plus Syndrome |
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Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ureteral duplication, Hypoplasia of... |
ORPHA:709 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
Vascular Ehlers-Danlos Syndrome |
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Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Bladder diverticulum, Renovascular ... |
ORPHA:286 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Pallister-Killian Syndrome |
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Small scrotum, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia majora, Renal cyst, Aplas... |
OMIM:601803 |
Norrie Disease |
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Uterine rupture, Cryptorchidism |
ORPHA:649 |