Immunodeficiency 53 |
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Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
Neutrophilia, Hereditary |
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Neutrophilia, Splenomegaly |
OMIM:162830 |
Specific Granule Deficiency 1 |
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Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... |
OMIM:245480 |
Testicular Regression Syndrome |
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Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... |
OMIM:277000 |
46,Xy Sex Reversal 3 |
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Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
Leydig Cell Hypoplasia |
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Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... |
ORPHA:755 |
46,Xy Sex Reversal 11 |
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Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G... |
OMIM:273250 |
46,Xx Ovotesticular Difference Of Sex Development |
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Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
Renal And Mullerian Duct Hypoplasia |
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Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... |
OMIM:266810 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
Partial Androgen Insensitivity Syndrome |
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Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... |
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 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... |
ORPHA:1916 |
Mullerian Aplasia And Hyperandrogenism |
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Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... |
OMIM:158330 |
Immunodeficiency 14B, Autosomal Recessive |
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Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
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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Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus |
OMIM:601076 |
Amed Syndrome, Digenic |
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Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukopenia, Hypoplasia of the uterus |
OMIM:619151 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... |
OMIM:614841 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Hematuria, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, Uterus didelphys, Ne... |
OMIM:146255 |
Immunodeficiency 32B |
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Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... |
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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Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... |
OMIM:233420 |
Testicular Agenesis |
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Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... |
ORPHA:325124 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... |
OMIM:614837 |
Ovarian Dysgenesis 2 |
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Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:300510 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, H... |
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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Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... |
ORPHA:83628 |
Deafness-Lymphedema-Leukemia Syndrome |
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Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... |
ORPHA:3226 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... |
ORPHA:90793 |
Perrault Syndrome 3 |
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Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:614129 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... |
ORPHA:168558 |
Perrault Syndrome 6 |
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Streak ovary, Hypoplasia of the uterus |
OMIM:617565 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... |
ORPHA:289548 |
46,Xy Sex Reversal 4 |
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Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct... |
OMIM:154230 |
46,Xx Sex Reversal 2 |
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Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... |
OMIM:278850 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Aplasia of the ute... |
ORPHA:2237 |
Microcephaly 20, Primary, Autosomal Recessive |
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Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Townes-Brocks Syndrome 2 |
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Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia |
OMIM:617466 |
Meckel Syndrome 12 |
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Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia |
OMIM:616258 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
Relapsing Fever |
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Acute kidney injury, Anemia, Hematuria, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia |
ORPHA:91547 |
Satoyoshi Syndrome |
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Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... |
ORPHA:3130 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Premature Ovarian Failure 6 |
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Streak ovary, Hypoplasia of the uterus |
OMIM:612310 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
Oeis Complex |
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Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... |
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, Aplasia of the vagina, Aplasia of the uterus, Renal cyst, Unicornuate ... |
OMIM:614527 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Liver abscess, Anemia, Abnormal testis morphology, Neutrophilia, Brain abscess |
ORPHA:54251 |
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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Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Müllerian Aplasia And Hyperandrogenism |
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Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology |
ORPHA:247768 |
Perrault Syndrome 4 |
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Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate 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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Hypospadias, Unilateral renal agenesis, Nephrolithiasis, Renal cyst, Bicornuate uterus, Glycosuri... |
OMIM:137920 |
Microphthalmia, Syndromic 9 |
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Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hypoplastic spleen, Hy... |
OMIM:601186 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... |
OMIM:202010 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... |
ORPHA:90796 |
Fanconi Anemia, Complementation Group L |
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Anemia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Micropenis |
OMIM:614083 |
Acute Generalized Exanthematous Pustulosis |
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Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neutropenia |
ORPHA:293173 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... |
OMIM:271520 |
Exstrophy-Epispadias Complex |
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Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... |
ORPHA:322 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... |
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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Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Thrombocytopenia-Absent Radius Syndrome |
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Ureteral duplication, Anemia, Vesicoureteral reflux, Aplasia of the uterus, Leukocytosis, Thrombo... |
OMIM:274000 |
Estrogen Resistance |
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Polycystic ovaries, Hypoplasia of the uterus |
OMIM:615363 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
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Autoimmune hemolytic anemia, Minimal change glomerulonephritis, Leukocytosis, Neutrophilia, Splen... |
OMIM:620565 |
Cardiac-Urogenital Syndrome |
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Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,... |
OMIM:618280 |
Pontocerebellar Hypoplasia Type 7 |
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Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
Popliteal Pterygium Syndrome |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, 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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Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Hypoplasia ... |
OMIM:618419 |
Estrogen Resistance Syndrome |
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Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
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 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Phocomelia, Schinzel Type |
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Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
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, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus |
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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Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... |
OMIM:241080 |
Okamoto Syndrome |
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Urinary incontinence, Ureteropelvic junction obstruction, Hydronephrosis, Splenomegaly, Bifid ute... |
ORPHA:2729 |
Woodhouse-Sakati Syndrome |
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Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... |
ORPHA:3464 |
Townes-Brocks Syndrome 1 |
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Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... |
OMIM:107480 |
Coffin-Siris Syndrome 1 |
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Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Renal hypo... |
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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Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... |
OMIM:201750 |
Hydrolethalus Syndrome 1 |
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Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus, Hydronephrosis |
OMIM:236680 |
Ehlers-Danlos Syndrome, Vascular Type |
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Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture |
OMIM:130050 |
Wolf-Hirschhorn Syndrome |
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Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Cryptorchidism |
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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Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism |
OMIM:276820 |
Neu-Laxova Syndrome 1 |
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Bifid uterus, Cryptorchidism |
OMIM:256520 |
Peters-Plus Syndrome |
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Ureteral duplication, Hypospadias, Clitoral hypoplasia, Renal hypoplasia, Hydronephrosis, Hypopla... |
OMIM:261540 |
Peters Plus Syndrome |
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Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Clitoral hypoplasia, Hydronephrosis,... |
ORPHA:709 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
ORPHA:572333 |
Vascular Ehlers-Danlos Syndrome |
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Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ... |
ORPHA:286 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Pallister-Killian Syndrome |
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Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Renal cyst, S... |
OMIM:601803 |
Norrie Disease |
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Uterine rupture, Cryptorchidism |
ORPHA:649 |