| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal... |
OMIM:619902 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... |
OMIM:615285 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles... |
OMIM:615382 |
| Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... |
OMIM:194080 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph... |
ORPHA:85445 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Meckel Syndrome, Type 8 |
|
Hyperechogenic kidneys, Ambiguous genitalia, Pericardial effusion, Polycystic kidney dysplasia, E... |
OMIM:613885 |
| Meacham Syndrome |
|
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Male pseudohermaphroditism, Atr... |
OMIM:608978 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:610539 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... |
ORPHA:90301 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c... |
OMIM:615415 |
| Squalene Synthase Deficiency |
|
Elevated urine mesaconic acid level, Bilateral cryptorchidism, Elbow flexion contracture, Hypocho... |
OMIM:618156 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Large for gestational age, Inguinal hernia, Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... |
OMIM:618280 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... |
OMIM:208540 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Pericardial effusion, Splenomeg... |
OMIM:608776 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypertrophic cardiomyopathy, Hypocholesterolemia, Neonatal death, Hepatomegaly, Micropenis, Hydro... |
OMIM:618810 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Congenital hypothyroidism, Cardiomegaly, Obesity |
ORPHA:88643 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Macrovesicular hepatic steatosis, Polycystic kid... |
OMIM:608836 |
| H Syndrome |
|
Histiocytosis, Hypogonadism, Decreased testicular size, Azoospermia, Hepatosplenomegaly, Microcyt... |
ORPHA:168569 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... |
OMIM:604387 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... |
OMIM:235200 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Adren... |
OMIM:130650 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Bone marrow hypocellularity, Hype... |
OMIM:617303 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... |
ORPHA:755 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Multiple lipomas, Ovarian serous cystadenoma... |
ORPHA:276280 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating... |
OMIM:613313 |
| Potocki-Lupski Syndrome |
|
Failure to thrive, Hypocholesterolemia, Patent foramen ovale, Abnormal renal morphology, Hypothyr... |
OMIM:610883 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... |
OMIM:232220 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Proteinuria, Delayed puberty, Increased blood urea ni... |
ORPHA:251004 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... |
OMIM:273250 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Failure to thrive, Hypocholesterolemia, Splenomeg... |
OMIM:607765 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... |
OMIM:276700 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... |
ORPHA:983 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Neonatal death, Hydronephrosis, Urethral atresia, Transposition of... |
OMIM:314390 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Cardiomegaly, Weight loss, Impotence, Abnormal renal physiology |
ORPHA:85447 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hypertriglyce... |
OMIM:612526 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Metrorrhagia, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system... |
ORPHA:464329 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... |
ORPHA:90793 |
| Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nep... |
OMIM:269920 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Pros... |
ORPHA:449395 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Failure to thrive, Cardiomyopathy, Hypoc... |
OMIM:212065 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... |
OMIM:602390 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fibrosis, Hepatomegaly, Ch... |
ORPHA:79259 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Leprechaunism |
|
Clitoral hypertrophy, Long penis, Nephrocalcinosis, Central hypothyroidism, Failure to thrive, Ov... |
ORPHA:508 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico... |
OMIM:617805 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Xanthelasma, Hyperlipid... |
OMIM:232200 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Failure to thrive, Neonatal death |
OMIM:614096 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Cryptorchidism, Congenital diaphragmatic hernia, Hepatoblastoma, Hepatomegaly, Visce... |
ORPHA:116 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... |
OMIM:246700 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Hepatom... |
OMIM:266510 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Infertility, Weight loss, Cirrhosis, Hepatomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hyp... |
ORPHA:465508 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Bone marrow hypocellularity, Abnormal heart morphology, Heparan sulfate excretio... |
ORPHA:505248 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hyperammonemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:600649 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Hyperparathyroidism, Umbilical hernia, Inguinal hernia, Ovarian cyst, ... |
OMIM:618188 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Dicarboxylic ac... |
OMIM:212140 |
| Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... |
ORPHA:1916 |
| Alg9-Cdg |
|
Periportal fibrosis, Right ventricular dilatation, Hypoplasia of the bladder, Abnormal heart morp... |
ORPHA:79328 |
| Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Aplasia of the uterus, Anteriorly displaced urethral meatus, ... |
OMIM:266810 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, S... |
ORPHA:2237 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Inguinal hernia, Enlarged kidney, Cystic... |
OMIM:608022 |
| Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s... |
OMIM:618652 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... |
OMIM:616834 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... |
ORPHA:289548 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce... |
OMIM:277000 |
| Congenital Toxoplasmosis |
|
Failure to thrive in infancy, Ascites, Cardiomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, H... |
ORPHA:858 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Omphalocele, Hepatomegaly, Enlarged ... |
OMIM:200995 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Hyperprolinemia, Cardiomegaly, Hyperalaninemia, Hepatomegaly |
OMIM:619064 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ... |
ORPHA:3109 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... |
OMIM:614841 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Ascites, Hyperammonemia, Cardiomegaly, Hyperalani... |
OMIM:614702 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... |
OMIM:300280 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... |
ORPHA:90797 |
| Microphthalmia, Syndromic 9 |
|
Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Tetralogy of ... |
OMIM:601186 |
| Endocrine-Cerebroosteodysplasia |
|
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Adrenal... |
OMIM:612651 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habi... |
OMIM:308750 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li... |
OMIM:256550 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t... |
OMIM:308700 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Uterus didelphy... |
OMIM:146255 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Hepatic steatosis,... |
ORPHA:42 |
| Complete Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... |
ORPHA:99429 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... |
ORPHA:52901 |
| Kennedy Disease |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu... |
ORPHA:481 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Abnormality of connective tissue, Weight loss, Hepatomegaly, Mediastinal lymph... |
ORPHA:79128 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors... |
ORPHA:3097 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level, Anemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
| Alg12-Cdg |
|
Hypoalbuminemia, Failure to thrive, Biventricular hypertrophy, Hypocholesterolemia, Muscular vent... |
ORPHA:79324 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... |
OMIM:614837 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Failure to thrive, Umbilical hernia, Hypertrophic cardiomyop... |
OMIM:252500 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... |
ORPHA:2138 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... |
ORPHA:168563 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Renal ... |
OMIM:194072 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Enamel hypoplasia |
OMIM:613576 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a... |
ORPHA:228308 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe... |
OMIM:261740 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613091 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Renal... |
ORPHA:322 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypert... |
OMIM:201475 |
| Ogden Syndrome |
|
Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... |
OMIM:300855 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... |
ORPHA:90796 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| 46,Xy Sex Reversal 3 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... |
OMIM:612965 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, A... |
ORPHA:14 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Non-obstructive azoospermia, Absence of pubertal development, Cryptorchidism, Increased female li... |
ORPHA:432 |
| Smith-Lemli-Opitz Syndrome |
|
Small scrotum, Cryptorchidism, Hepatic steatosis, Ventricular septal defect, Cirrhosis, Atrial se... |
OMIM:270400 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Loss of facial adipose tissue, ... |
ORPHA:79083 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp... |
OMIM:615234 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr... |
OMIM:255120 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Leukocytosis, P... |
OMIM:618886 |
| Wolfram Syndrome 1 |
|
Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Hypothyroidism, Neurogenic bla... |
OMIM:222300 |
| Mullerian Aplasia And Hyperandrogenism |
|
Unilateral renal agenesis, Aplasia of the fallopian tube, Aplasia of the vagina, Increased circul... |
OMIM:158330 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Contractures of the large joints, Mitral valve prolapse, Cardiomegaly, Abn... |
ORPHA:324410 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia |
OMIM:619051 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... |
ORPHA:615 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Small for gestational age, Failure to thrive, Biventricular hypertrophy, Dextrotransposition of t... |
ORPHA:860 |
| Renal Cysts And Diabetes Syndrome |
|
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypoplasia of the u... |
OMIM:137920 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... |
ORPHA:90791 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Cryptorchidi... |
ORPHA:1655 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... |
ORPHA:96180 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Renal insuffi... |
OMIM:603903 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Large for gestat... |
ORPHA:500095 |
| Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... |
OMIM:616217 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi... |
OMIM:616897 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... |
OMIM:300510 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Renal agenesis, Azoospermia, Hypoplasia of the uterus, Bicornuate uter... |
OMIM:601076 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... |
ORPHA:251510 |
| Tangier Disease |
|
Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphade... |
ORPHA:31150 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Gonadal dysgenesis, Elevated circulating creatinine concentration, Ureteropelvic... |
OMIM:154230 |
| Diabetic Embryopathy |
|
Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Cryptorchidism, Ventricula... |
ORPHA:1926 |
| Mulibrey Nanism |
|
Ascites, Nephroblastoma, Cardiomegaly, Enamel hypoplasia, Pericardial constriction, Hepatomegaly,... |
OMIM:253250 |
| Spermatogenic Failure, X-Linked, 2 |
|
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... |
OMIM:602782 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Ascites, Cardiomegaly, Left atrial... |
ORPHA:57777 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... |
OMIM:615558 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Weight loss, Renal salt wasting,... |
ORPHA:90794 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricula... |
OMIM:617713 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... |
OMIM:202010 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Abnormal renal ph... |
OMIM:266500 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Failure to thrive, Abnormality of the uterus, Horseshoe kidne... |
ORPHA:2470 |
| Lumbar Syndrome |
|
Renal agenesis, Bifid scrotum, Vesicoureteral reflux, Cryptorchidism, Renal duplication, Hypoplas... |
ORPHA:83628 |
| Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h... |
OMIM:252920 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... |
OMIM:613673 |
| Premature Ovarian Failure 7 |
|
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... |
OMIM:612964 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hyperammonemia, Ventric... |
OMIM:620609 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Clitoral hypertrophy, Hyperinsulinemia, Decreased fertility, Reduced subcutaneous adipose tissue,... |
OMIM:269700 |
| Timothy Syndrome |
|
Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular septal defect, Cardiomegaly,... |
OMIM:601005 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Decreased response to g... |
OMIM:615873 |
| Fucosidosis |
|
Failure to thrive, Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, Mucopolysacchari... |
ORPHA:349 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Axial malrotation of the kidney, Horseshoe kidney, Tetralogy of Fallot, Aplasia of the uterus, Ab... |
ORPHA:3320 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Clitoral hypertrophy, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, P... |
OMIM:608594 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Bifid scrotum, Abnormal... |
ORPHA:887 |
| Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, ... |
ORPHA:99931 |
| Testicular Agenesis |
|
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... |
ORPHA:325124 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets |
OMIM:614473 |
| Kaufman Oculocerebrofacial Syndrome |
|
Clitoral hypertrophy, Failure to thrive, Hypocholesterolemia, Ventricular septal defect, Hypoplas... |
OMIM:244450 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... |
OMIM:619665 |
| Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Umbilical hernia, Large for gestational age, Cardiomega... |
OMIM:239850 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... |
OMIM:617565 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Azoospermia |
OMIM:613909 |
| Double Outlet Left Ventricle |
|
Failure to thrive, Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary va... |
ORPHA:3427 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Azoospermia, Male infertility |
ORPHA:276183 |
| Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Steatorrhea, Increased... |
ORPHA:71 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect,... |
OMIM:312870 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Abnormality of the lower urinary tract, Cardiomegaly... |
ORPHA:391428 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Arthrogryposis multiplex congenita, Bilateral renal agenesis, Vaginal atresia, ... |
OMIM:616258 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Hepatic steatosis, Ventricular septa... |
OMIM:614921 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Vaginal at... |
OMIM:617914 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Ovarian Dysgenesis 7 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... |
OMIM:618117 |
| Mogs-Cdg |
|
Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hypertrophy, Hypo... |
ORPHA:79330 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circulat... |
OMIM:620306 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Ambiguous genitalia, female, Absent sc... |
OMIM:258040 |
| Pagod Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of the uterus, Abnormal morphol... |
ORPHA:991 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
| Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Car... |
ORPHA:555874 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... |
OMIM:619203 |
| Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Diabetes insipidus, Abnormal dental enamel morphology, Neoplasm o... |
ORPHA:744 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Acute myeloid leukemia, Adrenal hypop... |
OMIM:619151 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... |
OMIM:115197 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary, Obesity, Increased serum te... |
ORPHA:247768 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... |
OMIM:615300 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Perrault Syndrome 3 |
|
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... |
OMIM:614129 |
| Dubowitz Syndrome |
|
Aplastic anemia, Hypocholesterolemia, Inguinal hernia, Cryptorchidism, Acute lymphoblastic leukem... |
OMIM:223370 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia, Testicul... |
OMIM:300322 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
| Premature Ovarian Failure 13 |
|
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... |
OMIM:617442 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy, Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hepatomegaly, Inc... |
OMIM:232300 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Failure to thrive, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Sp... |
OMIM:620376 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... |
OMIM:617690 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating creatine... |
ORPHA:308552 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Umbilical hernia, Labial hypert... |
ORPHA:96191 |
| 46,Xx Sex Reversal 2 |
|
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Sandhoff Disease |
|
Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal... |
OMIM:268800 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Flexion contracture of finger, Hepatomegaly, Elevated circulating C-reactive p... |
OMIM:256040 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating cr... |
OMIM:300257 |
| Townes-Brocks Syndrome 2 |
|
Crossed fused renal ectopia, Vesicoureteral reflux, Bifid uterus, Rectovaginal fistula, Hypospadias |
OMIM:617466 |
| Gaucher Disease, Perinatal Lethal |
|
Ascites, Hepatosplenomegaly, Splenomegaly, Decreased body weight, Cardiomegaly, Neonatal death, A... |
OMIM:608013 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase |
OMIM:600705 |
| Meckel Syndrome 14 |
|
Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Single ventricle, Polycystic kidney... |
OMIM:619879 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... |
ORPHA:785 |
| Hydatidiform Mole |
|
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Developmental And Epileptic Encephalopathy 95 |
|
Umbilical hernia, Inguinal hernia, Cryptorchidism, Multiple joint contractures, Cardiomegaly, Hep... |
OMIM:618143 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... |
OMIM:614842 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr... |
OMIM:305400 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Small for gestational age |
OMIM:613320 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy, Elevated circulating creatine kinase c... |
ORPHA:268 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Large for gestational age, Ventricular se... |
ORPHA:363705 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Leukocyt... |
OMIM:618278 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Satoyoshi Syndrome |
|
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... |
ORPHA:3130 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... |
OMIM:241080 |
| 46,Xy Sex Reversal 7 |
|
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... |
OMIM:233420 |
| Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Omphalocele |
OMIM:617022 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicula... |
ORPHA:3464 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy |
OMIM:613987 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Renal artery stenosis, Hypophosphatemic rickets, Dilated cardiomyopathy |
OMIM:208000 |
| Amyloidosis, Hereditary Systemic 1 |
|
Urinary incontinence, Cardiomegaly, Impotence, Cardiomyopathy |
OMIM:105210 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Urinary incontinence, Abnormal heart morphology, Unilateral renal hypoplas... |
ORPHA:2729 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Inguinal hernia, Aplasia of the vagina, Hydronephrosis, Aplasia of the... |
OMIM:271520 |
| Fucosidosis |
|
Oligosacchariduria, Failure to thrive, Splenomegaly, Hernia, Hepatomegaly, Cardiomegaly, Glycopep... |
OMIM:230000 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content |
OMIM:619259 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Dilatation of the renal pelvis, Horseshoe kidney, Tetralogy of Fallot, Hepatosplenomegaly, Atriov... |
OMIM:274000 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Eunuchoid habitus, Cardiomegaly, Loss of truncal subcutaneous adipose... |
ORPHA:2463 |
| Estrogen Resistance |
|
Breast aplasia, Increased serum estradiol, Hyperinsulinemia, Polycystic ovaries, Increased circul... |
OMIM:615363 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ventricular s... |
OMIM:309801 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Failure to thrive, Abnormal c... |
ORPHA:1329 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Histiocytoid Cardiomyopathy |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Hepat... |
ORPHA:137675 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular... |
OMIM:236680 |
| Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal hypoplasia, Urethral valve, Small for gestational age, Bifid ... |
OMIM:107480 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Pelvic mass, Vaginal hematocele, ... |
ORPHA:65681 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Umbilical hernia |
ORPHA:1517 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ... |
OMIM:614083 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Gona... |
OMIM:618419 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Slender build, Left ventricular noncompaction cardiomyopathy, Cry... |
OMIM:300967 |
| Williams Syndrome |
|
Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular... |
ORPHA:904 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea |
OMIM:614851 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent tonsillitis, Umbilical hernia, Heparan sulfate excretion in urine, Urinary glycosaminog... |
ORPHA:581 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Small scrotum, Clitoral hypertrophy, Joint contracture of the hand, Decreased circulating dehydro... |
OMIM:201750 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple j... |
ORPHA:51 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Elbow flexion contracture, Inguinal hernia, Congenital diaphragmatic hernia, Mitral valve prolaps... |
OMIM:245600 |
| Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... |
ORPHA:1359 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Cryptorchidism, Patent foramen ovale, Decreased body weight, Cardi... |
OMIM:620371 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Congenital contracture, Urinary retention, Annular pancreas, Nephroblastoma, Card... |
ORPHA:97297 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Unilateral renal agenesis, Inguinal hernia, Aplasia of the vagina |
ORPHA:457284 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating creatine... |
ORPHA:365 |
| Neu-Laxova Syndrome 1 |
|
Yellow subcutaneous tissue covered by thin, scaly skin, Joint contracture of the hand, Renal agen... |
OMIM:256520 |
| Pontocerebellar Hypoplasia Type 7 |
|
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... |
ORPHA:284339 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus, Omphalocele |
ORPHA:2736 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty,... |
OMIM:615866 |
| Congenital Tracheomalacia |
|
Failure to thrive, Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Car... |
ORPHA:95430 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... |
ORPHA:3384 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy... |
OMIM:157640 |
| Yunis-Varon Syndrome |
|
Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Cryptorchidism,... |
ORPHA:3472 |
| Coffin-Siris Syndrome 1 |
|
Clitoral hypertrophy, Renal hypoplasia, Hydroureter, Umbilical hernia, Tetralogy of Fallot, Crypt... |
OMIM:135900 |
| X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Camptodactyly, Testicular atrophy, ... |
ORPHA:3063 |
| Phocomelia, Schinzel Type |
|
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism |
ORPHA:2879 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Asci... |
ORPHA:75565 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:609441 |
| Popliteal Pterygium Syndrome |
|
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... |
OMIM:119500 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Inguinal hernia, Abnormality of connective tissue |
ORPHA:91387 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Accessory spleen, Failure to thrive, Cryptorchidism, Ventricular septal defec... |
OMIM:194190 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... |
ORPHA:1677 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Decreased response to growt... |
ORPHA:273 |
| Peters Plus Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Umbilical hernia, Congenital hypothyroidism... |
ORPHA:709 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cigarette-paper scars, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Inguinal her... |
OMIM:130050 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Adrenal calcification, Fail... |
ORPHA:51608 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... |
OMIM:110100 |
| Limb-Mammary Syndrome |
|
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... |
ORPHA:69085 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple |
ORPHA:1521 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... |
ORPHA:572333 |
| Peters-Plus Syndrome |
|
Renal hypoplasia, Umbilical hernia, Cryptorchidism, Ventricular septal defect, Hydronephrosis, De... |
OMIM:261540 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Small scrotum, Supernumerary nipple, Cryptorchidism, Congenital diaphragma... |
OMIM:601803 |
| Vascular Ehlers-Danlos Syndrome |
|
Cigarette-paper scars, Uterine rupture, Umbilical hernia, Abnormal heart valve morphology, Cystoc... |
ORPHA:286 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Elbow flexion contracture, Cryptorchidism, Aplasia of the uterus, Anteriorly displ... |
OMIM:276820 |
| Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Uterine rupture, Camptodactyly of finger |
ORPHA:60030 |
| Norrie Disease |
|
Uterine rupture, Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Erectile dysfuncti... |
ORPHA:649 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Decreased body weight, Cardiomegaly, Mitral va... |
OMIM:182250 |
