Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... |
OMIM:617805 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum, Renal agenesis |
OMIM:192050 |
Caudal Duplication Anomaly |
|
Uterus didelphys, Ureteral duplication |
OMIM:607864 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis, Aplasia/Hypoplasia of th... |
OMIM:158330 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... |
OMIM:266810 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... |
OMIM:273250 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Abnormality of the kidney, Hypoplasia of the vagina, Horseshoe kidney,... |
ORPHA:3109 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Nephropathy, Abnormality o... |
OMIM:194072 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Uterus didelphys, Proxima... |
OMIM:146255 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Tubulointerstitial... |
OMIM:263200 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... |
OMIM:614837 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Renal agenesis, Ectopic k... |
OMIM:601076 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney |
OMIM:615415 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Renal agenesis, Renal duplication, Bladder ... |
ORPHA:83628 |
Endocrine-Cerebroosteodysplasia |
|
Sex reversal, Micropenis, Hypospadias, Hyperechogenic kidneys, Enlarged kidney, Ambiguous genital... |
OMIM:612651 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Micropenis, Hypogonadotropic hypogonadism, Dec... |
OMIM:614841 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Ovarian Dysgenesis 2 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary |
OMIM:300510 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Crossed fused renal ectopia |
OMIM:617466 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Nephroblastoma, Enla... |
OMIM:130650 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis |
OMIM:612964 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Enlarged kidney... |
OMIM:617303 |
Meacham Syndrome |
|
Blind vagina, Bicornuate uterus, Male pseudohermaphroditism, Septate vagina, Enlarged kidney, Hor... |
OMIM:608978 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Hepatomegaly, Ureteral duplication, Enlarged kidney, Renal dysp... |
OMIM:608836 |
Diaphanospondylodysostosis |
|
Nephroblastomatosis, Cystic renal dysplasia, Nephrogenic rest, Enlarged kidney |
OMIM:608022 |
Interstitial Cystitis |
|
Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the urethra, Nocturia, Urin... |
ORPHA:37202 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal dysplasia, Aplasia of the uter... |
ORPHA:2237 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614129 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney |
ORPHA:251004 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Enlarged kidney, Renal dysplasia, Ambiguous genitalia, Polycystic kidney dysplasia |
OMIM:613091 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
H Syndrome |
|
Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Decreased testicular ... |
ORPHA:168569 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Enlarged kidney, Focal segme... |
OMIM:232200 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia, Renal ... |
OMIM:208540 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly, Enlarged kidne... |
OMIM:232220 |
Hymen, Imperforate |
|
Hematocolpos, Imperforate hymen, Hydrocolpos |
OMIM:237100 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Abnormal ureter morphology, Prostatitis, Nephrotic range proteinuria, Ure... |
ORPHA:449395 |
Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... |
ORPHA:65681 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Unilateral re... |
OMIM:137920 |
Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
Alg9-Cdg |
|
Hypoplasia of the ovary, Ureteral hypoplasia, Bicornuate uterus, Hepatomegaly, Hypoplasia of the ... |
ORPHA:79328 |
Oeis Complex |
|
Labial hypoplasia, Ambiguous genitalia, female, Vesicovaginal fistula, Ambiguous genitalia, male,... |
OMIM:258040 |
Leprechaunism |
|
Hepatomegaly, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ovaries, Labial hypertrophy, ... |
ORPHA:508 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Enlarged kidney |
OMIM:200995 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Exstrophy-Epispadias Complex |
|
Bladder duplication, Cystocele, Bifid scrotum, Abnormality of the kidney, Bifid uterus, Abnormali... |
ORPHA:322 |
Estrogen Resistance |
|
Hypoplasia of the uterus |
OMIM:615363 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrolithiasis, Hepatomegaly, Enlarged kidney, Tubulointerstitial fibrosis, Proteinuria, Polycys... |
ORPHA:79259 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Renal Fa... |
OMIM:276700 |
Chromosome 17Q12 Deletion Syndrome |
|
Ovarian cyst, Unilateral renal agenesis, Multicystic kidney dysplasia, Hypoplasia of the bladder,... |
OMIM:614527 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Micropenis, Unilateral cryptorchidism, Enlarged kidney, Ambiguous genitalia, Penos... |
OMIM:618280 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Nephrotic syndrome, Hepatosplenomegaly, Heparan sulfate excretion in urine, Enlarged kidney, Urin... |
ORPHA:505248 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Hepatomegaly, Congenital megaureter, Splenomegaly, Nephroblastoma, Ureteral dupl... |
ORPHA:116 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary |
ORPHA:247768 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Splenomegaly, Enlarged kidney, Mucopolysacchariduria, Cardiomegaly |
OMIM:252500 |
Autosomal Recessive Polycystic Kidney Disease |
|
Reduced renal corticomedullary differentiation, Splenomegaly, Hepatosplenomegaly, Recurrent urina... |
ORPHA:731 |
Kennerknecht syndrome |
|
Renal agenesis, Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... |
ORPHA:90793 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... |
ORPHA:3130 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:168558 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney, Renal malrotation |
ORPHA:500095 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... |
ORPHA:289548 |
Ogden Syndrome |
|
Hydrocele testis, Global glomerulosclerosis, Enlarged kidney, Polycystic kidney dysplasia, Decrea... |
OMIM:300855 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... |
OMIM:202010 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Abnormality of the kidney, Horseshoe kidney, Axial malrotation of the kidney |
ORPHA:3320 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... |
OMIM:271520 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... |
ORPHA:432 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:601186 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Enlarged kidney, Horseshoe kidney, Cardiomegaly |
OMIM:306955 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotropic hypogonadism, ... |
ORPHA:90796 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia |
OMIM:619879 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Right ventricular hypertrophy, Splenomegaly, Hypospadias, Nephroblastoma, Enlarged ... |
OMIM:312870 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Unilateral renal agenesis, Renal hypoplasia, Micropenis |
OMIM:614083 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... |
ORPHA:90794 |
Popliteal Pterygium Syndrome |
|
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:119500 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Enlarged polycystic ovaries |
ORPHA:785 |
Pontocerebellar Hypoplasia Type 7 |
|
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... |
ORPHA:284339 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Unilateral renal agenesis |
ORPHA:457284 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... |
OMIM:241080 |
Coffin-Siris Syndrome 9 |
|
Renal malrotation, Hypoplasia of the uterus |
OMIM:615866 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Ureteral duplication, Horseshoe kidney, Axial malrotation of the kidney, Dila... |
OMIM:274000 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Hypospadias, Bifid uterus, Rectoperineal fistula, Multicystic kidney dysplasia, Re... |
OMIM:107480 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Unilateral renal agenesis, Gonadal dysgenesis, Clitoral hypoplasia, Hyp... |
OMIM:618419 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:609441 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Micropenis, Streak ovary, Hypoplasia of the fallopian tube, Decreased t... |
ORPHA:3464 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology |
ORPHA:1521 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy |
OMIM:309801 |
Okamoto Syndrome |
|
Splenomegaly, Bifid uterus, Ureteropelvic junction obstruction, Hydronephrosis, Unilateral renal ... |
ORPHA:2729 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Bifid uterus, Hypospadias, Hydronephrosis |
OMIM:236680 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Hydroureter, Renal hypoplasia, Clitoral hypertrophy, Ectopic kidney, Hydronephrosis,... |
OMIM:135900 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine prolapse, Uterine rupture, Cystocele, Cervical insufficiency, Cryptorchidism |
OMIM:130050 |
Neu-Laxova Syndrome 1 |
|
Renal agenesis, Bifid uterus, Cryptorchidism |
OMIM:256520 |
Wolf-Hirschhorn Syndrome |
|
Aplasia of the uterus, Hypospadias, Cryptorchidism, Precocious puberty |
OMIM:194190 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Hypospadias, Aplasia of the uterus, Cryptorchidism, Small scrotum |
OMIM:276820 |
Peters Plus Syndrome |
|
Hypoplasia of the uterus, Renal hypoplasia/aplasia, Hypospadias, Multicystic kidney dysplasia, Ur... |
ORPHA:709 |
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 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Vascular Ehlers-Danlos Syndrome |
|
Uterine prolapse, Bladder diverticulum, Cystocele, Uterine rupture, Hypospadias, Renovascular hyp... |
ORPHA:286 |
Pallister-Killian Syndrome |
|
Labial hypoplasia, Hypospadias, Renal dysplasia, Renal cyst, Aplasia of the upper vagina, Hypopla... |
OMIM:601803 |
Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |