Neutrophilia, Hereditary |
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Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
46,Xy Sex Reversal 3 |
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Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
Leydig Cell Hypoplasia |
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Cryptorchidism, Abnormal external genitalia, Micropenis, Hypergonadotropic hypogonadism, Hypospad... |
ORPHA:755 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
46,Xy Sex Reversal 11 |
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Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... |
OMIM:273250 |
Renal And Mullerian Duct Hypoplasia |
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Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... |
OMIM:266810 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... |
OMIM:614837 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Partial Androgen Insensitivity Syndrome |
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Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... |
ORPHA:90797 |
Complete Androgen Insensitivity Syndrome |
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Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
Mullerian Aplasia And Hyperandrogenism |
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Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of th... |
OMIM:158330 |
Androgen Insensitivity Syndrome |
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Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Ectopic kidney, Azoospermia |
OMIM:601076 |
Amed Syndrome, Digenic |
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Hypoplasia of the uterus, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypoplasia of the ovary, Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular acidosis, Uterus didelphys, Se... |
OMIM:146255 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
Premature Ovarian Failure 7 |
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Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis |
OMIM:612964 |
Testicular Agenesis |
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Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Ovarian Dysgenesis 2 |
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Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
46,Xy Sex Reversal 7 |
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Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
46,Xx Sex Reversal 2 |
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Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus |
OMIM:618078 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... |
ORPHA:3109 |
Hydatidiform Mole |
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Anemia, Enlarged uterus |
ORPHA:99927 |
Immunodeficiency 91 And Hyperinflammation |
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Nephrotic syndrome, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Membranoprol... |
OMIM:619644 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Lumbar Syndrome |
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Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... |
ORPHA:83628 |
Perrault Syndrome 3 |
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Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
Congenital Disorder Of Glycosylation, Type Iic |
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Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Deafness-Lymphedema-Leukemia Syndrome |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Thrombocytope... |
ORPHA:3226 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:168558 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
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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Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:289548 |
46,Xy Sex Reversal 4 |
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Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidney dysplasia, Aplasia... |
ORPHA:2237 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Townes-Brocks Syndrome 2 |
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Hypospadias, Bifid uterus, Rectovaginal fistula, Crossed fused renal ectopia |
OMIM:617466 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Neutrophilia, Brain abscess, Anemia, Liver abscess, Abnormal testis morphology |
ORPHA:54251 |
Satoyoshi Syndrome |
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Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... |
ORPHA:3130 |
Oeis Complex |
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Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... |
OMIM:258040 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Relapsing Fever |
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Neutrophilia, Leukocytosis, Leukopenia, Hematuria, Acute kidney injury, Anemia, Thrombocytopenia |
ORPHA:91547 |
Premature Ovarian Failure 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Chromosome 17Q12 Deletion Syndrome |
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Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Renal cyst, Renal hypoplas... |
OMIM:614527 |
Estrogen Resistance |
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Hypoplasia of the uterus |
OMIM:615363 |
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 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... |
ORPHA:432 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Müllerian Aplasia And Hyperandrogenism |
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Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus, Thrombocytopenia, Horseshoe kidney |
ORPHA:3320 |
Perrault Syndrome 4 |
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Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
Microphthalmia, Syndromic 9 |
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Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Renal hypoplasia, Horseshoe k... |
OMIM:601186 |
Renal Cysts And Diabetes Syndrome |
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Nephrolithiasis, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Unilateral re... |
OMIM:137920 |
Kennerknecht syndrome |
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Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... |
OMIM:202010 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotropic hypogonadism, ... |
ORPHA:90796 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... |
OMIM:271520 |
Exstrophy-Epispadias Complex |
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Cystocele, Bifid scrotum, Abnormality of the ureter, Bifid uterus, Bladder exstrophy, Absent peni... |
ORPHA:322 |
Fanconi Anemia, Complementation Group L |
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Micropenis, Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, Anemia |
OMIM:614083 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... |
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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Leukocytosis, Eosinophilia, Hepatosplenomegaly, Ureteral duplication, Horseshoe kidney, Aplasia o... |
OMIM:274000 |
Psoriasis 14, Pustular |
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Neutrophilia, Leukocytosis |
OMIM:614204 |
Pontocerebellar Hypoplasia Type 7 |
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Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... |
ORPHA:284339 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis |
OMIM:617099 |
Popliteal Pterygium Syndrome |
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Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:119500 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Estrogen Resistance Syndrome |
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Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Hypoplasia of the uterus, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Gonad... |
OMIM:618419 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Phocomelia, Schinzel Type |
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Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
Sweet Syndrome |
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Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... |
ORPHA:3243 |
Cardiac-Urogenital Syndrome |
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Micropenis, Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Enlarged kidney, Ambiguou... |
OMIM:618280 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Familial Mediterranean Fever |
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Nephrotic syndrome, Orchitis, Neutrophilia, Leukocytosis, Splenomegaly, Stage 5 chronic kidney di... |
OMIM:249100 |
Coffin-Siris Syndrome 9 |
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Hypoplasia of the uterus |
OMIM:615866 |
Acromesomelic Dysplasia 3 |
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Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:609441 |
Hyper-Igd Syndrome |
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Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Hepatosplenomegaly, Elevated urin... |
OMIM:260920 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Hypospadias, Bifid uterus, Multicystic kidney dysplasia, Rectoperineal fistula, Re... |
OMIM:107480 |
Woodhouse-Sakati Syndrome |
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Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... |
OMIM:241080 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy |
OMIM:309801 |
Okamoto Syndrome |
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Splenomegaly, Bifid uterus, Ureteropelvic junction obstruction, Hydronephrosis, Unilateral renal ... |
ORPHA:2729 |
Woodhouse-Sakati Syndrome |
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Hypoplasia of the uterus, Streak ovary, Micropenis, Hypoplasia of the fallopian tube, Decreased t... |
ORPHA:3464 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Hydroureter, Renal hypoplasia, Clitoral hypertrophy, Ectopic kidney, Hydronephrosis,... |
OMIM:135900 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Hydronephrosis |
OMIM:236680 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Ehlers-Danlos Syndrome, Vascular Type |
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Uterine prolapse, Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficiency, Anemia |
OMIM:130050 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism |
OMIM:194190 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Hypospadias, Aplasia of the uterus, Cryptorchidism, Small scrotum |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
Peters-Plus Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Hypoplasia of the vagina, Ureteral duplication, Clitoral h... |
OMIM:261540 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypergonadotropic hypogonadism, Polycystic ovaries, Hypoplasia of the uterus, Streak ovary |
ORPHA:572333 |
Vascular Ehlers-Danlos Syndrome |
|
Uterine prolapse, Bladder diverticulum, Cystocele, Uterine rupture, Hypospadias, Renovascular hyp... |
ORPHA:286 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Peters Plus Syndrome |
|
Hypoplasia of the uterus, Hypospadias, Multicystic kidney dysplasia, Ureteral duplication, Clitor... |
ORPHA:709 |
Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |
Pallister-Killian Syndrome |
|
Labial hypoplasia, Hypospadias, Renal cyst, Aplasia of the upper vagina, Hypoplastic labia majora... |
OMIM:601803 |