Attention Deficit-Hyperactivity Disorder |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Hyperactivity |
OMIM:608443 |
Uterine Anomalies |
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Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Bruxism, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Smith-Magenis syndrome |
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Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 72 |
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Motor stereotypy, Hyperactivity |
OMIM:300271 |
Intellectual Developmental Disorder, X-Linked 109 |
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Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Fraxe Intellectual Disability |
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Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting |
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Dysphagia, Hyperactivity, Impulsivity |
OMIM:620448 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Testicular Regression Syndrome |
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Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu... |
ORPHA:983 |
Developmental And Epileptic Encephalopathy 104 |
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Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
Morm Syndrome |
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Micropenis, Aggressive behavior, Hyperactivity |
ORPHA:75858 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
8p23.1 deletion syndrome |
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Cryptorchidism, Hyperactivity |
DECIPHER:39 |
46,Xy Sex Reversal 3 |
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Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ... |
OMIM:612965 |
Developmental And Epileptic Encephalopathy 43 |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
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 |
Glycine Encephalopathy 1 |
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Aggressive behavior, Restlessness, Hyperactivity, Impulsivity |
OMIM:605899 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
46,Xy Sex Reversal 11 |
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Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female... |
OMIM:273250 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
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 7 |
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Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... |
OMIM:277000 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... |
OMIM:619827 |
Female Restricted Epilepsy With Intellectual Disability |
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Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity |
ORPHA:101039 |
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 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
Testicular Agenesis |
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Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge... |
ORPHA:325124 |
Complete Androgen Insensitivity Syndrome |
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Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... |
ORPHA:99429 |
Ovarian Dysgenesis 2 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Partial Androgen Insensitivity Syndrome |
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Clitoral hypertrophy, Bifid scrotum, Bilateral cryptorchidism, Azoospermia, Aplasia of the ovary,... |
ORPHA:90797 |
Premature Ovarian Failure 7 |
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Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis |
OMIM:612964 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the... |
OMIM:158330 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... |
OMIM:614841 |
Vaginal Atresia |
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Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... |
ORPHA:65681 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Aggressive behavior, Macroorchidism, Hyperactivity |
ORPHA:85327 |
Perrault Syndrome 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis... |
OMIM:614837 |
Perrault Syndrome 3 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
47,Xyy Syndrome |
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Varicocele, Azoospermia, Cryptorchidism, Attention deficit hyperactivity disorder, Hyperactivity,... |
ORPHA:8 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Renal And Mullerian Duct Hypoplasia |
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Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis |
OMIM:266810 |
Amed Syndrome, Digenic |
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Attention deficit hyperactivity disorder, Hypoplasia of the uterus |
OMIM:619151 |
46,Xx Sex Reversal 2 |
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Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo... |
OMIM:278850 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
Premature Ovarian Failure 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Ovarian Dysgenesis 5 |
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Hypoplasia of the uterus |
OMIM:617690 |
Premature Ovarian Failure 18 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Hydatidiform Mole |
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Enlarged uterus |
ORPHA:99927 |
Ovarian Dysgenesis 9 |
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Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Lumbar Syndrome |
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Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... |
ORPHA:83628 |
Microcephaly 20, Primary, Autosomal Recessive |
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Vaginal atresia, Hypoplasia of the uterus, Attention deficit hyperactivity disorder |
OMIM:617914 |
Satoyoshi Syndrome |
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Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u... |
ORPHA:3130 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria... |
ORPHA:90793 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp... |
ORPHA:289548 |
Perrault Syndrome 4 |
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Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus |
OMIM:615300 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina |
OMIM:146255 |
Müllerian Aplasia And Hyperandrogenism |
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Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology |
ORPHA:247768 |
46,Xy Sex Reversal 4 |
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Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro... |
OMIM:154230 |
Townes-Brocks Syndrome 2 |
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Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... |
ORPHA:432 |
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 |
Histidinemia |
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Hyperactivity |
ORPHA:2157 |
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 |
Satoyoshi Syndrome |
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Hypoplasia of the uterus |
OMIM:600705 |
Seckel Syndrome 7 |
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Hypoplasia of the uterus |
OMIM:614851 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
Oeis Complex |
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Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... |
OMIM:258040 |
Estrogen Resistance |
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Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Popliteal Pterygium Syndrome |
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Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... |
OMIM:119500 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Vaginal atresia, Aplasia of the uterus, Septate vagina, Uterus didelphys |
ORPHA:2237 |
Meckel Syndrome 12 |
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Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Aplasia of the uterus, Hyperactivity, Aplasia of the vagina |
ORPHA:457284 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig... |
ORPHA:90794 |
Fanconi Anemia, Complementation Group L |
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Micropenis, Aplasia of the uterus, Attention deficit hyperactivity disorder |
OMIM:614083 |
Chromosome 17Q12 Deletion Syndrome |
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Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Pica |
OMIM:614527 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina |
OMIM:271520 |
Meckel Syndrome 14 |
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Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
Pontocerebellar Hypoplasia Type 7 |
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Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
Estrogen Resistance Syndrome |
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Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
ORPHA:3320 |
Microphthalmia, Syndromic 9 |
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Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism, Neonatal death |
OMIM:601186 |
Acromesomelic Dysplasia 3 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
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 |
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 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias |
OMIM:309801 |
Woodhouse-Sakati Syndrome |
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Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Hypo... |
ORPHA:3464 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia... |
OMIM:618280 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia, Gonadal dysgenesis |
OMIM:618419 |
Exstrophy-Epispadias Complex |
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Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A... |
ORPHA:322 |
Limb-Mammary Syndrome |
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Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Thrombocytopenia-Absent Radius Syndrome |
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Aplasia of the uterus |
OMIM:274000 |
Coffin-Siris Syndrome 1 |
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Clitoral hypertrophy, Cryptorchidism, Aplasia of the uterus, Aggressive behavior, Compulsive beha... |
OMIM:135900 |
Hydrolethalus Syndrome 1 |
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Bifid uterus, Hypospadias, Abnormal vagina morphology, Stillbirth |
OMIM:236680 |
Renal Cysts And Diabetes Syndrome |
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Atretic vas deferens, Epididymal cyst, Hypoplasia of the uterus, Bicornuate uterus, Hypospadias |
OMIM:137920 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Cryptorchidism, Aplasia of the uterus, Motor stereotypy, Hypospadias |
OMIM:194190 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Hypoplasia of the uterus |
OMIM:110100 |
Neu-Laxova Syndrome 1 |
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Bifid uterus, Stillbirth, Cryptorchidism, Neonatal death |
OMIM:256520 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria... |
OMIM:201750 |
Norrie Disease |
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Self-injurious behavior, Uterine rupture, Cryptorchidism, Attention deficit hyperactivity disorde... |
ORPHA:649 |
Ehlers-Danlos Syndrome, Vascular Type |
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Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency |
OMIM:130050 |
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 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa... |
OMIM:107480 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
Okamoto Syndrome |
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Bifid uterus |
ORPHA:2729 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Pallister-Killian Syndrome |
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Small scrotum, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia majora, Aplasia of the up... |
OMIM:601803 |
Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias |
ORPHA:286 |
Peters-Plus Syndrome |
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Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the vagina, Hypoplasia of the uterus, Hyp... |
OMIM:261540 |
Peters Plus Syndrome |
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Hypoplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypoplasia |
ORPHA:709 |