Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Micropenis, Tetralogy of Fallot, Ambiguous genitalia, Testicular dysgenesis, Cryptorchidism, Peri... |
OMIM:615542 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal cyst, Renal hypoplasia, Neonatal death |
OMIM:228940 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, Mu... |
OMIM:614377 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Absence of pubertal development, Primary amenorrhea, D... |
OMIM:614840 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:212780 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Meier-Gorlin Syndrome 8 |
|
Renal hypoplasia |
OMIM:617564 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Stillbirth |
OMIM:236500 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Hyperechogenic kidneys |
OMIM:617914 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty |
OMIM:618117 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
8p23.1 deletion syndrome |
|
Abnormal heart morphology, Cryptorchidism, Atrial septal defect, Atrioventricular canal defect |
DECIPHER:39 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Acrorenal Syndrome, Autosomal Recessive |
|
Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency |
OMIM:201310 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia |
OMIM:617661 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Vacterl Association With Hydrocephalus |
|
Renal hypoplasia, Stillbirth |
OMIM:276950 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Bresek Syndrome |
|
Hypoplasia of the bladder, Neonatal death, Renal dysplasia, Renal hypoplasia, Vesicoureteral reflux |
ORPHA:85284 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Decreased serum testosterone concentration, Mi... |
OMIM:614841 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency, Vesicourete... |
ORPHA:1475 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Death in childhood, Renal hypoplasia, 3-Methylglutaconic aciduria, Lacticaciduria |
OMIM:604273 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Hypertrophy of the urinary bladder, Renal hypoplasia, Renal dysplasia |
OMIM:601389 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
Verheij Syndrome |
|
Renal agenesis, Renal cyst, Renal hypoplasia |
OMIM:615583 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Urogenital sinus anomaly, Abnormality of the endocrine system, Ambiguous genitalia, male, Hypopla... |
ORPHA:753 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insufficiency, Proteinuria |
OMIM:610205 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal hypoplasia, Death in infancy, Renal in... |
OMIM:614922 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Joubert Syndrome 22 |
|
Renal hypoplasia |
OMIM:615665 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney |
OMIM:266810 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal agenesis, Renal hypoplasia, Hydronephrosis |
OMIM:618494 |
Mullerian Aplasia And Hyperandrogenism |
|
Amenorrhea, Abnormality of the endocrine system, Unilateral renal agenesis, Aplasia/Hypoplasia of... |
OMIM:158330 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:2256 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Abnormality of the uterus, Horseshoe kidney, Hydronephrosis, Vesico... |
OMIM:617805 |
Hadziselimovic Syndrome |
|
Renal hypoplasia |
OMIM:612946 |
Orofaciodigital Syndrome Xvii |
|
Renal hypoplasia, Micropenis |
OMIM:617926 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia |
OMIM:616854 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Female infertility, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephritis, Stage 5 ... |
OMIM:614376 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Distal Trisomy 6P |
|
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis |
ORPHA:1745 |
Oligomeganephronia |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Unilateral renal agenesis, Bilateral... |
ORPHA:2260 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Meckel Syndrome 12 |
|
Renal agenesis, Ureteral hypoplasia, Renal hypoplasia |
OMIM:616258 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia |
OMIM:608572 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Neonatal death |
OMIM:300076 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
Fraser Syndrome 2 |
|
Aplasia of the bladder, Renal hypoplasia, Renal agenesis |
OMIM:617666 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephropathy, Abnormality of the uterus, Re... |
OMIM:194072 |
Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux |
ORPHA:464288 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
Mungan Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:611376 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Multi... |
OMIM:120330 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... |
OMIM:235200 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilateral renal agene... |
OMIM:308750 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia |
OMIM:616817 |
Attrv30M Amyloidosis |
|
Impotence, Abnormal renal physiology, Nephropathy, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Vesicoureteral reflux |
OMIM:619955 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Renal hypoplasia, Hypoplasia of penis, Renal dysplasia |
ORPHA:85321 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... |
OMIM:617641 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Cardiomegaly |
ORPHA:88643 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Bilateral cryptorchidism, ... |
OMIM:618652 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Ovarian neoplasm, Prostate cancer |
ORPHA:145 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Aminoaciduria, Hydronephrosis |
OMIM:617913 |
Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney, Abnormal renal morphology |
OMIM:609053 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Cardiomyopathy, C... |
OMIM:617713 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Renal hypoplasia, Proteinuria |
ORPHA:1307 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Fanconi Anemia, Complementation Group O |
|
Miscarriage, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Stage 5 chronic kidney... |
OMIM:613390 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulati... |
OMIM:614842 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... |
ORPHA:84081 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia |
ORPHA:75389 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Hyperechogenic kidneys, Tubulointerstitial nephritis, Renal hypop... |
OMIM:617595 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Emanuel Syndrome |
|
Renal agenesis, Renal hypoplasia, Micropenis |
OMIM:609029 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney |
ORPHA:2470 |
Meacham Syndrome |
|
Abnormal vagina morphology, Anomalous pulmonary venous return, Atrial septal defect, Hypoplasia o... |
ORPHA:3097 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... |
ORPHA:90796 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidne... |
ORPHA:2237 |
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis |
|
Hematocolpos, Uterus didelphys, Partial vaginal septum |
OMIM:192050 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Unilateral renal agenesis, Abnormality of the kidney, Hypospadias, Glycosuria, A... |
OMIM:137920 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Impotence, Hypoplasia of the uterus, Decreased serum testosterone concen... |
ORPHA:432 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
12Q14 Microdeletion Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Ectopic kidney |
ORPHA:94063 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia |
OMIM:618914 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia |
OMIM:614091 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
Duplication Of Urethra |
|
Bladder duplication, Chordee, Dysuria, Distal urethral duplication, Epispadias, Micropenis, Hyper... |
ORPHA:237 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular acidosis, ... |
OMIM:146255 |
Cach Syndrome |
|
Renal hypoplasia |
ORPHA:135 |
Marden-Walker Syndrome |
|
Hypospadias, Renal hypoplasia, Micropenis |
OMIM:248700 |
Lumbar Syndrome |
|
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... |
ORPHA:83628 |
Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Ventricular septal defect, Ambiguous genitalia, Patent urachus, Unilateral crypt... |
OMIM:618280 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Ectopic kidney, Azoospermia |
OMIM:601076 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea |
OMIM:615363 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:617660 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... |
ORPHA:3109 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal cyst, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux, Microphallus |
OMIM:618454 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Ambiguous genitalia,... |
OMIM:202010 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Emanuel Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Micropenis |
ORPHA:96170 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Oligomenorrhea, Primary ame... |
OMIM:615300 |
Pallister-Hall Syndrome |
|
Distal urethral duplication, Micropenis, Hydroureter, Neonatal death, Renal dysplasia, Renal cyst... |
OMIM:146510 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Renal hypoplasia, Ectopic kidney, Micropenis |
OMIM:616541 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Hydroureter, Hypothyroidism, Cardiomyopathy, Hydronephrosis, Diabetes mellitu... |
OMIM:222300 |
Rauch-Steindl Syndrome |
|
Bilateral renal hypoplasia, Miscarriage, Hyperechogenic kidneys |
OMIM:619695 |
Duane-Radial Ray Syndrome |
|
Renal agenesis, Crossed fused renal ectopia, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:607323 |
Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Death in childhood, Neonatal death, Death in infancy |
OMIM:619334 |
Fanconi Anemia, Complementation Group F |
|
Pelvic kidney, Renal hypoplasia, Vesicoureteral reflux, Microphallus |
OMIM:603467 |
Vaginal Atresia |
|
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Primary amenorrhea, Cervicitis, Transvers... |
ORPHA:65681 |
Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Pelvic kidney, Renal malrotation |
OMIM:601186 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... |
ORPHA:49041 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
Interstitial Cystitis |
|
Abnormal vagina morphology, Dyspareunia, Abnormal labia morphology, Abnormality of the urethra, N... |
ORPHA:37202 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Cardiomegaly |
OMIM:618654 |
Renal Dysplasia-Limb Defects Syndrome |
|
Renal hypoplasia, Neonatal death, Renal dysplasia |
OMIM:266910 |
Exstrophy-Epispadias Complex |
|
Bladder duplication, Cystocele, Abnormality of the kidney, Abnormality of the ureter, Bladder fis... |
ORPHA:322 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hepatome... |
ORPHA:465508 |
Stromme Syndrome |
|
Bilateral renal hypoplasia, Stillbirth, Hydronephrosis |
OMIM:243605 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Renal hypoplasia, Micropenis |
OMIM:264480 |
Timothy Syndrome |
|
Tetralogy of Fallot, Hypothyroidism, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Hypoplasia of the bladder, Multicy... |
OMIM:614527 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Crossed fused renal ectopia |
OMIM:617466 |
Van Maldergem Syndrome 2 |
|
Hypospadias, Renal hypoplasia, Micropenis |
OMIM:615546 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Neonatal death, Tubulointerstitial fibrosis, E... |
OMIM:263200 |
Hymen, Imperforate |
|
Amenorrhea, Hematocolpos, Imperforate hymen, Hydrocolpos |
OMIM:237100 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Satoyoshi Syndrome |
|
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... |
ORPHA:3130 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Ureteropelvic junction obstruction, Renal hypoplasia, Hydronephrosis |
OMIM:618975 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... |
ORPHA:90794 |
Penile Agenesis |
|
Urethral atresia, male, Urethral fistula, Bilateral renal hypoplasia, Hydroureter, Bilateral rena... |
ORPHA:49 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Renal hypoplasia |
OMIM:601390 |
Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Renal hypoplasia |
ORPHA:37553 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis, Megacystis |
OMIM:619362 |
Short-Rib Thoracic Dysplasia 12 |
|
Renal hypoplasia, Cystic renal dysplasia, Neonatal death |
OMIM:269860 |
Scalp-Ear-Nipple Syndrome |
|
Renal agenesis, Pyelonephritis, Renal hypoplasia, Renal insufficiency |
OMIM:181270 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... |
OMIM:154230 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Renal hypoplasia |
ORPHA:314679 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Neuraminidase Deficiency |
|
Hepatomegaly, Splenomegaly, Urinary excretion of sialylated oligosaccharides, Increased urinary O... |
OMIM:256550 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Renal hypoplasia |
OMIM:616300 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Estrogen Resistance Syndrome |
|
Hypoplasia of the uterus, Hyperinsulinemia, Absence of pubertal development, Primary amenorrhea, ... |
ORPHA:785 |
Cornelia De Lange Syndrome 1 |
|
Reduced renal corticomedullary differentiation, Hypospadias, Abnormal renal morphology, Renal cys... |
OMIM:122470 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria, Neonatal death |
OMIM:602199 |
Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis |
OMIM:212140 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Hepatomegaly, Pancreatic hyperplasia, Overgrowth of extern... |
OMIM:130650 |
Kinsship Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Death in infancy |
OMIM:619297 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Ventricular septal defect, Hydronephrosis, Hypertrophic cardiomyopathy, ... |
OMIM:616897 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly |
OMIM:600649 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Ulnar-Mammary Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:3138 |
Oeis Complex |
|
Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... |
OMIM:258040 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Micropenis |
OMIM:614083 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... |
ORPHA:247768 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... |
OMIM:252920 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Abnormal cardiac septum morphology, Horseshoe kidney, Tetralogy of Fallot |
ORPHA:3320 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Alagille Syndrome 1 |
|
Renal tubular acidosis, Renal dysplasia, Focal segmental glomerulosclerosis, Duplicated collectin... |
OMIM:118450 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Hydroureter, Urinary retention, Renal hypoplasia, Renal insufficiency,... |
ORPHA:90324 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Hypospadias, Renal hypoplasia, Horseshoe kidney, Pelvic kidney |
ORPHA:508498 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias |
OMIM:600057 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Impotence, Cardiomyopathy, Cardiomegaly, Urinary incontinence |
OMIM:105210 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Mogs-Cdg |
|
Hydrocele testis, Atrial septal defect, Inappropriate antidiuretic hormone secretion, External ge... |
ORPHA:79330 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly, Abnormal renal physiology |
OMIM:266500 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, Hypergonadotrop... |
OMIM:241080 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal cyst, Renal hypoplasia, Stillbirth, Micropenis |
OMIM:210710 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly |
OMIM:239850 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Smith-Lemli-Opitz Syndrome |
|
Micropenis, Unilateral renal agenesis, Renal agenesis, Hypospadias, Ureteropelvic junction obstru... |
OMIM:270400 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Decreased response to growth hormone stimulation test, Hepatomegaly, Microp... |
OMIM:602782 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septa... |
ORPHA:96191 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Cardiomegaly |
OMIM:618838 |
Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Hypoplasia of the uterus |
OMIM:619151 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Priapism, Splenomegaly, Hematuria, Renal insufficiency, Cardiomegaly |
OMIM:603903 |
Poland Syndrome |
|
Renal hypoplasia/aplasia, Ureterocele, Hypospadias, Duplicated collecting system, Renal hypoplasi... |
ORPHA:2911 |
Aarskog-Scott Syndrome |
|
Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Syndromic Diarrhea |
|
Polycystic kidney dysplasia, Renal hypoplasia |
ORPHA:84064 |
14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia |
ORPHA:264200 |
Meckel Syndrome 14 |
|
Aplasia of the uterus, Ambiguous genitalia, Polycystic kidney dysplasia, Single ventricle |
OMIM:619879 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased... |
ORPHA:3464 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Cardiomegal... |
ORPHA:255249 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Pagod Syndrome |
|
Hypoplastic left heart, Agonadism, Multicystic kidney dysplasia, Abnormal morphology of female in... |
ORPHA:991 |
Kennerknecht syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
Degcags Syndrome |
|
Chordee, Chronic kidney disease, Abnormal renal medulla morphology, Bilateral renal dysplasia, Hy... |
OMIM:619488 |
Cockayne Syndrome |
|
Nephrotic syndrome, Abnormal renal physiology, Unilateral renal agenesis, Renal hypoplasia, Prote... |
ORPHA:191 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hypertrophic cardiomyopathy,... |
OMIM:201475 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Renal hypoplasia |
OMIM:620005 |
Popliteal Pterygium Syndrome |
|
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... |
OMIM:119500 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... |
OMIM:271520 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Cardiomegaly |
ORPHA:391428 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Horsesho... |
OMIM:306955 |
Renpenning Syndrome 1 |
|
Hypospadias, Death in childhood, Renal hypoplasia, Phimosis |
OMIM:309500 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Hypoplasia of the thymus, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hypoplasia of the uterus, Atrial septal defect, Micropenis, Hypospadias, Ovotestis, Vent... |
OMIM:309801 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Multiple renal cysts, Polycystic kidney dysplasia, Renal hypoplasia, Vesicoureteral ... |
ORPHA:567 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Micropenis |
OMIM:619321 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Testicular atrophy |
OMIM:300322 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Myoglobinuria, Cystic renal dysplasia, Red-brown urine, Dicarboxylic aciduria, Tubu... |
ORPHA:228308 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
Fucosidosis |
|
Hypothyroidism, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Fraser Syndrome |
|
Urethral atresia, Hypoplasia of penis, Hypospadias, Multicystic kidney dysplasia, Renal hypoplasi... |
ORPHA:2052 |
Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia |
OMIM:105650 |
Williams Syndrome |
|
Nephrolithiasis, Bladder diverticulum, Hypoplasia of penis, Recurrent urinary tract infections, R... |
ORPHA:904 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Pontocerebellar Hypoplasia Type 7 |
|
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... |
ORPHA:284339 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Abnormality of the kidney, Hypospadias, Multiple renal cysts, Renal hypoplas... |
ORPHA:857 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Ab... |
ORPHA:363705 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Hepatomegaly, Ureteral duplication, Enlarged kidney, Polycystic... |
OMIM:608836 |
Fraser Syndrome 1 |
|
Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Micropenis |
OMIM:219000 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormon... |
OMIM:609441 |
Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Heterotaxy, Visceral, 5, Autosomal |
|
Renal hypoplasia, Ureteral duplication, Ureteral stenosis |
OMIM:270100 |
Sandhoff Disease |
|
Impotence, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Urinary incontinence |
OMIM:268800 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Dilated cardiomyopathy, Delayed puberty, Hydronephrosis,... |
OMIM:614921 |
Williams-Beuren Syndrome |
|
Bladder diverticulum, Micropenis, Recurrent urinary tract infections, Hypercalciuria, Abnormal re... |
OMIM:194050 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Irregular menstruation, Increased circu... |
OMIM:110100 |
Townes-Brocks Syndrome 1 |
|
Hypospadias, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal insufficiency... |
OMIM:107480 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Coffin-Siris Syndrome 1 |
|
Hypospadias, Hydroureter, Renal hypoplasia, Ectopic kidney, Hydronephrosis |
OMIM:135900 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Lacrimoauriculodentodigital Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2363 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Unilateral renal hypoplasia |
OMIM:619950 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Left atrial enlargement, Ca... |
ORPHA:57777 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis |
ORPHA:2879 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hypospadias, Renal hypoplasia, Vesicoureteral reflux, Micropenis |
OMIM:309580 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
3-Methylglutaconic aciduria, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Okamoto Syndrome |
|
Abnormal heart morphology, Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial... |
ORPHA:2729 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal cyst, Renal hypoplasia, Hydronephrosis |
ORPHA:93271 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Renal cyst, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism, Congenital megaurete... |
ORPHA:116 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Polycystic kidney dysplasia, Renal hypoplasia |
ORPHA:3404 |
Thrombocytopenia-Absent Radius Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Hepatosplenomegaly, Ureteral duplication, Te... |
OMIM:274000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Card... |
ORPHA:308552 |
Fucosidosis |
|
Glycopeptiduria, Hepatomegaly, Oligosacchariduria, Splenomegaly, Cardiomegaly |
OMIM:230000 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:1517 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly, Renal artery stenosis |
OMIM:208000 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology |
ORPHA:1521 |
Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Breast aplas... |
ORPHA:69085 |
Peters-Plus Syndrome |
|
Hypospadias, Renal hypoplasia, Ureteral duplication, Hydronephrosis |
OMIM:261540 |
Charge Syndrome |
|
Micropenis, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Hydronephrosis |
OMIM:214800 |
Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Ventricular sept... |
OMIM:236680 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:608013 |
Ogden Syndrome |
|
Hydrocele testis, Global glomerulosclerosis, Bicuspid aortic valve, Secundum atrial septal defect... |
OMIM:300855 |
Truncus Arteriosus |
|
Adrenocortical abnormality, Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosi... |
ORPHA:3384 |
Coffin-Siris Syndrome 9 |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Mitral valve prolapse,... |
OMIM:245600 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Ectopic kidney, Cryptorchidism |
ORPHA:3063 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Unilateral renal agenesis, Elevated circulating luteinizing hormone lev... |
OMIM:618419 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine,... |
ORPHA:581 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Splenomegaly, Cardiomegaly, Urinary incontinence |
OMIM:232300 |
Yunis-Varon Syndrome |
|
Atrial septal defect, Micropenis, Hypospadias, Tetralogy of Fallot, Renovascular hypertension, Ve... |
ORPHA:3472 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormality of the thymus, Cardiomegaly |
ORPHA:2463 |
Microphthalmia, Syndromic 6 |
|
Renal hypoplasia |
OMIM:607932 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Ventricular septal defect, Patent foramen ovale, Transposition of the great arterie... |
OMIM:256520 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... |
ORPHA:273 |
Aicardi-Goutières Syndrome |
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Micropenis, Hepatosplenomegaly, Hypothyroidism, Diabetes mellitus, Hypertrophic cardiomyopathy, C... |
ORPHA:51 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Urinary retention, Cardiome... |
ORPHA:97297 |
Liver Disease, Severe Congenital |
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Hydrocele testis, Dilatation of the ventricular cavity, Hyperinsulinemic hypoglycemia, Aminoacidu... |
OMIM:619991 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Splenomegaly, Enlarged kidney, Mucopolysacchariduria, Hypertrophic cardiomyopathy, ... |
OMIM:252500 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Uterine prolapse, Uterine rupture, Cystocele, Mitral valve prolapse, Cervical insufficiency, Cryp... |
OMIM:130050 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Right atrial enlargement, Hepatomegaly, Right ventricular hypertrophy, Atrial septal dilatation, ... |
ORPHA:1677 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:618278 |
8Q24.3 Microdeletion Syndrome |
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Unilateral renal agenesis, Abnormality of the kidney, Bilateral renal hypoplasia, Pelvic kidney, ... |
ORPHA:508488 |
Microphthalmia, Syndromic 1 |
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Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Renal hypoplasia |
OMIM:309800 |
Wolf-Hirschhorn Syndrome |
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Precocious puberty, Atrial septal defect, Hypospadias, Ventricular septal defect, Aplasia of the ... |
OMIM:194190 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Splenomegaly, Irregular menstruation, Epididymitis, Elevated circulating thyroid-st... |
OMIM:256040 |
Congenital Total Pulmonary Venous Return Anomaly |
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Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Abetalipoproteinemia |
|
Hypothyroidism, Hepatomegaly, Cardiomegaly |
ORPHA:14 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Card... |
ORPHA:365 |
Peters Plus Syndrome |
|
Abnormal cardiac septum morphology, Hypoplasia of the uterus, Hypoplastic left heart, Pulmonic st... |
ORPHA:709 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... |
OMIM:276820 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Endocar... |
ORPHA:75565 |
Vascular Ehlers-Danlos Syndrome |
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Uterine prolapse, Bladder diverticulum, Cystocele, Uterine rupture, Hypospadias, Renovascular hyp... |
ORPHA:286 |
Generalized Arterial Calcification Of Infancy |
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Medullary nephrocalcinosis, Adrenal calcification, Pancreatic calcification, Pericardial effusion... |
ORPHA:51608 |
Loeys-Dietz Syndrome |
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Uterine rupture |
ORPHA:60030 |
Norrie Disease |
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Uterine rupture, Erectile dysfunction, Delayed puberty, Diabetes mellitus, Cryptorchidism |
ORPHA:649 |
Pallister-Killian Syndrome |
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Labial hypoplasia, Aortic valve stenosis, Supernumerary nipple, Atrial septal defect, Hypospadias... |
OMIM:601803 |
Singleton-Merten Syndrome 1 |
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Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... |
OMIM:182250 |