Uterine Anomalies |
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Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Testicular Regression Syndrome |
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Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
46,Xy Sex Reversal 3 |
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Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Hypomelia With Mullerian Duct Anomalies |
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Postaxial hand polydactyly, Split hand, Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Ovarian Dysgenesis 6 |
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Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Satoyoshi Syndrome |
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Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Hypoplasia of the uterus, ... |
ORPHA:3130 |
46,Xy Sex Reversal 11 |
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Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
46,Xy Sex Reversal 7 |
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Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus |
OMIM:608996 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
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Fused labia minora, Ambiguous genitalia, female, Deformed humerus, Abnormality of the uterus, Abn... |
ORPHA:2975 |
Leydig Cell Hypoplasia |
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Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Thrombocytopenia-Absent Radius Syndrome |
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Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Ovarian Dysgenesis 2 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
46,Xx Sex Reversal 2 |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Diethylstilbestrol Syndrome |
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Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Partial Androgen Insensitivity Syndrome |
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Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
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Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Abnormal rib morphology |
OMIM:601076 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Premature Ovarian Failure 7 |
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Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
Complete Androgen Insensitivity Syndrome |
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Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Mullerian Aplasia And Hyperandrogenism |
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Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Acromesomelic Dysplasia 3 |
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Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Short t... |
OMIM:609441 |
Vaginal Atresia |
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Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Satoyoshi Syndrome |
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Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,... |
OMIM:600705 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Seckel Syndrome 7 |
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Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Clinodactyly of the 5th fing... |
OMIM:614851 |
Perrault Syndrome 6 |
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Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Perrault Syndrome 3 |
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Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Premature Ovarian Failure 13 |
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Hypoplasia of the uterus |
OMIM:617442 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Missing ribs, Absent external genitalia, Rib fusion, Thin ribs, Aplasia of the vagina, Short ribs... |
OMIM:271520 |
Ovarian Dysgenesis 7 |
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Hypoplasia of the uterus |
OMIM:618117 |
Renal And Mullerian Duct Hypoplasia |
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Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
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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Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
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 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Hypoplasia of penis, Aplasia of the ulna, Cryptorchidism... |
ORPHA:2879 |
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 |
Müllerian Aplasia And Hyperandrogenism |
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Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Brachydactyly |
ORPHA:247768 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla... |
OMIM:276820 |
Lumbar Syndrome |
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Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Thrombocytopenia-Absent Radius Syndrome |
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Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Amed Syndrome, Digenic |
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Hypoplasia of the uterus, Long thumb |
OMIM:619151 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
Bent Bone Dysplasia Syndrome 2 |
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Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, Short sternum, Short ribs, Hypoplastic il... |
OMIM:620076 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Oeis Complex |
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11 pairs of ribs, Congenital hip dislocation, Bifid uterus, Epispadias, Cryptorchidism, Ambiguous... |
OMIM:258040 |
Meckel Syndrome 14 |
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Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Postaxia... |
OMIM:619879 |
Perrault Syndrome 4 |
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Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
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Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
46,Xy Sex Reversal 4 |
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Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Townes-Brocks Syndrome 2 |
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Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Meckel Syndrome 12 |
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Hypoplasia of the uterus, Vaginal atresia, Rocker bottom foot |
OMIM:616258 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
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Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Popliteal Pterygium Syndrome |
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Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uterus |
ORPHA:2736 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
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Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
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Broad hallux, Postaxial polydactyly, Hip dysplasia, Aplasia of the vagina, Aplasia of the uterus,... |
ORPHA:457284 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Chromosome 17Q12 Deletion Syndrome |
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Long toe, Long fingers, Cryptorchidism, Upper limb undergrowth, Short foot, Ovarian cyst, Aplasia... |
OMIM:614527 |
Estrogen Resistance |
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Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
Estrogen Resistance Syndrome |
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Enlarged polycystic ovaries, Delayed epiphyseal ossification, Hypoplasia of the uterus |
ORPHA:785 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
Microcephaly 20, Primary, Autosomal Recessive |
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Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Fused labia majora, Premature pubarche, Hypogonadotropic hypogonadism, Abnormal external genitali... |
ORPHA:90794 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
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Abnormal reproductive system morphology, Syndactyly, Unilateral brachydactyly, Bifid uterus |
ORPHA:1521 |
Myoectodermal Gonadal Dysgenesis Syndrome |
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Bifid distal phalanx of the thumb, Hypoplasia of the uterus, Hypoplastic labia majora, Hip dyspla... |
OMIM:618419 |
Limb-Mammary Syndrome |
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Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Aplasia of the uterus, Aplasia of th... |
ORPHA:69085 |
Townes-Brocks Syndrome 1 |
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Bifid scrotum, Short metatarsal, Triphalangeal thumb, 2-4 finger syndactyly, Hypospadias, Bifid u... |
OMIM:107480 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... |
ORPHA:3404 |
Wolf-Hirschhorn Syndrome |
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Rib segmentation abnormalities, Pseudoepiphyses of the metacarpals, Hypospadias, Short hallux, Me... |
OMIM:194190 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Pontocerebellar Hypoplasia Type 7 |
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Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
Fanconi Anemia, Complementation Group L |
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Absent radius, Micropenis, Aplasia of the uterus, Absent thumb |
OMIM:614083 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Arachnodactyly, Hyp... |
OMIM:201750 |
Coffin-Siris Syndrome 1 |
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Sandal gap, Hypospadias, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypoplas... |
OMIM:135900 |
Hydrolethalus Syndrome 1 |
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Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ... |
OMIM:236680 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Toe syndactyly, Rocker bottom foot, Bifid uterus, Long fingers, Cryptorchidism... |
OMIM:256520 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, 2-3 toe syndactyly, Aplasia of the uter... |
OMIM:618280 |
Woodhouse-Sakati Syndrome |
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Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Cystocele, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, ... |
OMIM:130050 |
Woodhouse-Sakati Syndrome |
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Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
Exstrophy-Epispadias Complex |
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Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Renal Cysts And Diabetes Syndrome |
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Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
Peters-Plus Syndrome |
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Syndactyly, Short metacarpal, Hypoplasia of the vagina, Hypospadias, Proximal placement of thumb,... |
OMIM:261540 |
Loeys-Dietz Syndrome |
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Arachnodactyly, Camptodactyly of finger, Uterine rupture |
ORPHA:60030 |
Okamoto Syndrome |
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Hip dysplasia, Polydactyly, Bifid uterus |
ORPHA:2729 |
Pallister-Killian Syndrome |
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11 pairs of ribs, Congenital hip dislocation, Hypospadias, Small scrotum, Cryptorchidism, Postaxi... |
OMIM:601803 |
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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Congenital hip dislocation, Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prol... |
ORPHA:286 |
Norrie Disease |
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Cryptorchidism, Uterine rupture |
ORPHA:649 |