Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Multiple renal cysts |
DECIPHER:47 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... |
OMIM:619902 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ... |
OMIM:145001 |
Familial Aortic Dissection |
|
Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul... |
ORPHA:229 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver... |
ORPHA:3032 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... |
ORPHA:480520 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia |
OMIM:211890 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Hepatomegaly, Portal hypertension, Malformation of the hepatic ductal... |
OMIM:208540 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Renal cyst |
OMIM:615987 |
Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Decreased liver function |
OMIM:600666 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Meckel Syndrome, Type 8 |
|
Cleft palate, Polycystic kidney dysplasia, Ambiguous genitalia, Hyperechogenic kidneys, Enlarged ... |
OMIM:613885 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Jaundice, Stage 5 chronic ... |
OMIM:613095 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism |
OMIM:615982 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Cleft pala... |
ORPHA:1988 |
Aorto-Ventricular Tunnel |
|
Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art... |
ORPHA:3400 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi... |
OMIM:231680 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Thoracic aortic aneurysm, Aortic tortuosity |
OMIM:616166 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Aminoacidu... |
OMIM:214110 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Intestinal malrotation, Unilateral renal agenesis, Renal steatosis, Cleft pala... |
OMIM:113650 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Rena... |
OMIM:610199 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria,... |
OMIM:243910 |
Mass Syndrome |
|
Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst |
OMIM:174050 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... |
OMIM:614823 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Decreased liver function, Renal cyst |
OMIM:614870 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia |
OMIM:263210 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Short uvula, Renal hypoplasia, Renal cyst, Cleft palate, Hepatic fibrosis, High pala... |
OMIM:614091 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Renal hyp... |
ORPHA:84064 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Cryptorchidism, Rectal atresia, Stage 5 chronic kidney disease, Rena... |
OMIM:613390 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated hepatic transa... |
OMIM:608836 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Rhyns Syndrome |
|
Hypopituitarism, Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis |
ORPHA:140976 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... |
ORPHA:79303 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy... |
OMIM:617100 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the spleen, Anorectal anomaly, Abnormality of the ureter... |
ORPHA:1834 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Septate vagi... |
ORPHA:2237 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe... |
ORPHA:314588 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Cleft palate, Macroglossia, High palate, ... |
ORPHA:261290 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, R... |
ORPHA:228308 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri... |
ORPHA:26791 |
Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Multicystic kidney dysplasia |
OMIM:614209 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia |
ORPHA:3316 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection... |
ORPHA:2970 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Protein-losing... |
OMIM:602579 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ... |
OMIM:603909 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Hepatosplenomegaly |
OMIM:618982 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ... |
ORPHA:2973 |
Genitopalatocardiac Syndrome |
|
Gonadal dysgenesis, male, Hypospadias, Cleft palate, Renal cyst |
OMIM:231060 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft palate, Polycystic kidney dysplasia, Ambiguous... |
OMIM:613091 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... |
ORPHA:449400 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot... |
OMIM:614866 |
Congenital Heart Defects, Multiple Types, 2 |
|
Tetralogy of Fallot, Aortic aneurysm |
OMIM:614980 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Cleft palat... |
OMIM:607361 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer |
OMIM:135150 |
Fibromuscular Dysplasia, Arterial |
|
Arterial fibromuscular dysplasia, Stroke, Aortic dissection |
OMIM:135580 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Descending thoracic aorta aneurysm, Patent du... |
ORPHA:91387 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Abnormality... |
ORPHA:400 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... |
OMIM:216360 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H... |
OMIM:614817 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute... |
ORPHA:220460 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts |
ORPHA:3033 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal... |
OMIM:618780 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... |
OMIM:619656 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Intestinal malrotation, Polycystic kidney dysplasia |
OMIM:617866 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia,... |
ORPHA:93111 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Microglossia, Cleft palate, Hep... |
OMIM:263520 |
Periventricular Nodular Heterotopia |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:98892 |
Hypoplastic Left Heart Syndrome 1 |
|
Coarctation of aorta |
OMIM:241550 |
Meckel Syndrome, Type 6 |
|
Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Cleft palate, Cyst... |
OMIM:612284 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Ascending aortic dissection |
OMIM:619825 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,... |
ORPHA:730 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Malform... |
OMIM:249000 |
Aortic Valve Disease 3 |
|
Aortic root aneurysm, Ascending aortic dissection |
OMIM:618496 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
Joubert Syndrome 18 |
|
Cleft palate, Renal cyst, Horseshoe kidney, Lobulated tongue, Intrahepatic biliary atresia |
OMIM:614815 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, High, narrow palate, Pituitary adenoma, Esophageal atr... |
ORPHA:96149 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst |
OMIM:614883 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... |
OMIM:137920 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Hepatic fibrosis, Polycystic kidney dysplasia |
OMIM:619879 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Multiple renal cysts, Vesicoureteral reflux |
ORPHA:1166 |
Axial Osteomalacia |
|
Polycystic liver disease, Renal cyst |
OMIM:109130 |
Vacterl/Vater Association |
|
Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec... |
ORPHA:887 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst |
OMIM:605231 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Gastroesophageal reflux, High palate, Polycystic kidney dysplasia, Ves... |
OMIM:606232 |
Orofaciodigital Syndrome I |
|
Proteinuria, Hamartoma of tongue, Pancreatic cysts, Cleft palate, Tongue nodules, Ovarian cyst, L... |
OMIM:311200 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Meckel Syndrome, Type 10 |
|
Hypospadias, Malformation of the hepatic ductal plate, Renal cyst, Cleft palate, Micropenis, Bifi... |
OMIM:614175 |
Meckel Syndrome, Type 2 |
|
Cleft palate, Bile duct proliferation, Intestinal malrotation, Renal cyst |
OMIM:603194 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Narrow palate, Bicorn... |
OMIM:200980 |
Rin2 Syndrome |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Aortic aneurysm |
ORPHA:217335 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Aortic aneurysm |
OMIM:612422 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Meckel Syndrome, Type 5 |
|
Cleft palate, Bile duct proliferation, Renal cyst |
OMIM:611561 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Anal atresia, Gastrointestinal hemorrhage, Hypospadias, Aganglionic megacolon... |
ORPHA:567 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaco... |
ORPHA:445038 |
Fragile X Syndrome |
|
Macroorchidism, Ascending tubular aorta aneurysm |
ORPHA:908 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath... |
ORPHA:805 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... |
ORPHA:2241 |
Nephronophthisis 11 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Renal hypopla... |
ORPHA:2538 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Abnormal m... |
ORPHA:2075 |
Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ... |
ORPHA:1318 |
Takayasu Arteritis |
|
Ascending tubular aorta aneurysm, Vasculitis, Arterial stenosis, Vascular dilatation |
ORPHA:3287 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia... |
ORPHA:110 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Intestinal malrotation, Cryptorchidism, Renal cyst, High palate, Polycystic kidney d... |
OMIM:102500 |
Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S... |
OMIM:267010 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Ogden Syndrome |
|
Global glomerulosclerosis, Cryptorchidism, Thrombocytopenia, Jaundice, Microvesicular hepatic ste... |
OMIM:300855 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c... |
OMIM:193300 |
Diaphanospondylodysostosis |
|
Multiple renal cysts, Cleft palate |
ORPHA:66637 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Celiac disease, Dilatation of th... |
ORPHA:2044 |
Roberts Syndrome |
|
Clitoral hypertrophy, Cryptorchidism, Long penis, Cleft palate, High palate, Polycystic kidney dy... |
ORPHA:3103 |
Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative... |
ORPHA:3261 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Decrease... |
OMIM:614922 |
17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi... |
ORPHA:261265 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... |
OMIM:613854 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Inflammation of the large intestine, Hypopituitarism, Increased B cell count, Increased T cell count |
ORPHA:98813 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Hepatic cysts, Cholangitis, Pancreatic cysts, Portal hypertension, A... |
ORPHA:284 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, High pa... |
DECIPHER:81 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cleft palate, Micropenis, Hamartoma of tongue, Polycystic kidney dysplasia |
OMIM:616546 |
Temtamy Syndrome |
|
Aortic aneurysm |
OMIM:218340 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Hepatocellular adenoma, Renal cyst, Glycosuri... |
ORPHA:552 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Overriding aorta, Persistent left superior vena cava, Aortic aneurysm |
ORPHA:477817 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Jaundice,... |
ORPHA:912 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Aortic aneurysm |
OMIM:620070 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral... |
ORPHA:49 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis, Multicystic kidney dysplasia, Glossoptosis, Renal cyst |
ORPHA:2031 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Macs Syndrome |
|
Cryptorchidism, Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism, Aortic aneurysm |
OMIM:613075 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:99880 |
Polysyndactyly With Cardiac Malformation |
|
Hepatic cysts, Renal cyst |
OMIM:263630 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Proteinuria, Hypergonadotropic hypo... |
OMIM:212065 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:143 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aortic dissect... |
OMIM:175050 |
Braddock-Carey Syndrome 1 |
|
Anteriorly placed anus, Cleft palate, Multicystic kidney dysplasia, Thrombocytopenia |
OMIM:619980 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis, Intestinal pseudo-obstruction |
ORPHA:73246 |
Femoral-Facial Syndrome |
|
Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Cleft palate, Hypopl... |
OMIM:134780 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c... |
OMIM:257300 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P... |
ORPHA:1454 |
Loeys-Dietz Syndrome 4 |
|
Arterial tortuosity, Ascending tubular aorta aneurysm, Aortic root aneurysm, Aortic dissection, A... |
OMIM:614816 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... |
OMIM:613159 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Intestinal malrotation, Asplenia, Cryptorchidism, Horseshoe... |
ORPHA:99776 |
Arterial Tortuosity Syndrome |
|
Pulmonary artery stenosis, Arterial stenosis, Aortic root aneurysm, Abnormal carotid artery morph... |
ORPHA:3342 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft palate, Vesico... |
ORPHA:107 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst |
OMIM:236500 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Hypogonadism, Aortic... |
ORPHA:2990 |
Meckel Syndrome, Type 4 |
|
Cleft palate, Bile duct proliferation, Renal cyst |
OMIM:611134 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Cryptor... |
ORPHA:2059 |
Monosomy 18Q |
|
Bilateral cryptorchidism, Left aortic arch with right descending aorta and right ductus arteriosu... |
ORPHA:1600 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis |
OMIM:615994 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Patent ductus arteriosus, Partial anomalous pulmonary venous return, An... |
OMIM:619657 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis |
OMIM:615989 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... |
OMIM:610168 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Malrotation of colon, Cryptorchidism, High, narrow pala... |
OMIM:122470 |
Congenital Contractural Arachnodactyly |
|
Aortic aneurysm |
ORPHA:115 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia, Increased mean corpuscular volume, Increased proportion of gamma-de... |
OMIM:619774 |
Verheij Syndrome |
|
Cleft palate, Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
Trisomy 13 |
|
Cryptorchidism, High, narrow palate, Abnormality of the ureter, Cleft palate, Multiple renal cyst... |
ORPHA:3378 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Aortic dissection, Arterial dissection, Abnormal venous morphology, Vascular dilatation, Aortic a... |
ORPHA:1900 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Cleft palate, Congenital megaureter,... |
ORPHA:261344 |
Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Hypospadias, Coarctation of aorta |
ORPHA:1923 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Agan... |
OMIM:229850 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased testicular size, Renal dysplasia, Hydroureter, Decreased response t... |
OMIM:146510 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Pylo... |
ORPHA:261494 |
Lateral Meningocele Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Aortic aneurysm |
OMIM:130720 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614862 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Pancreatic cysts... |
OMIM:208500 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ... |
ORPHA:99050 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Cryptorchidism, Renal hypoplasia, Renal cyst, Gastroesophageal reflux, Polycystic kidney dysplasi... |
OMIM:210710 |
Loeys-Dietz Syndrome |
|
Aortic dissection, Arterial tortuosity, Patent ductus arteriosus, Uterine rupture, Arterial disse... |
ORPHA:60030 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re... |
ORPHA:3404 |
Alport Syndrome |
|
Renal glomerular foam cells, Aortic aneurysm, Clitoral hypertrophy, Abnormal aortic morphology |
ORPHA:63 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cleft palate, Abnormal liver lobulation,... |
OMIM:608022 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, High palate |
OMIM:615398 |
Giant Cell Arteritis |
|
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... |
ORPHA:397 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, Hydrometrocolpos, Tetralogy of Fal... |
ORPHA:3097 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, High palate, Hypospadias |
ORPHA:2115 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Renal cyst, Gastroesophageal reflux, ... |
OMIM:270400 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Thoracic aortic aneurysm, Subarachnoid hemorrhage, Arterial tortuosit... |
OMIM:613795 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Dysphagia, Neutropenia, Vesicoureteral reflux... |
OMIM:618460 |
Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a... |
OMIM:268300 |
Chromosome 18Q Deletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus... |
OMIM:601808 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intracranial hemorrhage, Aortic aneurysm, Arteriovenous malformation, Uterine neoplasm |
ORPHA:109 |
Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Gastroesophageal reflux, Multicystic kidney dysplasia, High palate, Bilateral cleft lip and palate |
OMIM:618829 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Fixed Subaortic Stenosis |
|
Ascending tubular aorta aneurysm, Patent ductus arteriosus, Coarctation of aorta |
ORPHA:3092 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Patent ductus arteriosus, Aplasia/hypoplasia of the uterus, Aplasia/... |
ORPHA:96121 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S... |
OMIM:266920 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation |
OMIM:619910 |
Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal pancreatic duct morphology, Multiple renal cysts, Cleft palate |
ORPHA:1190 |
Cardiac Valvular Dysplasia 2 |
|
Ascending tubular aorta aneurysm, Pulmonary artery dilatation |
OMIM:620067 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Renal cyst, Cholestasis, Bile duct pro... |
OMIM:261515 |
Alkaptonuria |
|
Coronary artery calcification, Aortic aneurysm |
OMIM:203500 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Cryptorchidism, Aortic aneurysm |
OMIM:182212 |
Mosaic Trisomy 1 |
|
Hepatic agenesis, Renal cortical cysts, Renal cyst, Cleft palate, Micropenis, Penile hypospadias |
ORPHA:1692 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Cryptorchidism, Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cleft palate, High palate, Cys... |
OMIM:220500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Ascending tubular aorta aneurysm |
OMIM:309520 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Renal hypoplasia, Lobula... |
OMIM:269860 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen mor... |
ORPHA:464329 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Ascending aortic dissection, Thoracic aorta calcification, Coarctation of a... |
ORPHA:402075 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local... |
ORPHA:261318 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Pyloric st... |
ORPHA:464306 |
Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm |
OMIM:166200 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Gastroesophageal reflux, Hydronephro... |
ORPHA:85201 |
Pagod Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Agonadism, Abn... |
ORPHA:991 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, High, narrow palate, Hypercalciuria, Renal cyst, Nephroca... |
ORPHA:369837 |
Loeys-Dietz Syndrome 1 |
|
Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... |
OMIM:609192 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Lobulated tongue... |
OMIM:616300 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia, Anal atresia |
ORPHA:3301 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Vascular tortuosity |
OMIM:219100 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi... |
ORPHA:464311 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Hepatomegaly |
ORPHA:488618 |
Joubert Syndrome 2 |
|
Renal insufficiency, Renal cyst, High palate, Nephronophthisis, Hypoplastic male external genitalia |
OMIM:608091 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Multicystic kidney dysplasia, Vaginal neoplasm, Cleft palate, Acute lymphob... |
ORPHA:1052 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, ... |
OMIM:618454 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thoracic aortic aneurysm, Ascending tubular aorta aneurysm, Aortic root aneurysm, Stroke |
ORPHA:536467 |
2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple |
ORPHA:1001 |
Seckel Syndrome 10 |
|
Abdominal aortic aneurysm, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:617253 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Hepatoblastoma, Cryptorchidism, Pancreatic hyperp... |
OMIM:130650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism, Aortic root aneurysm |
OMIM:301039 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Persistent left superior vena cava |
OMIM:609008 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Transient neutropenia, Renal cyst, Macroglossia, Nephroblastoma, Bifid ureter,... |
OMIM:617107 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Truncus arteriosus, Aortic aneurysm |
ORPHA:261330 |
Joubert Syndrome 14 |
|
Cleft palate, Renal cyst |
OMIM:614424 |
Aneurysm-Osteoarthritis Syndrome |
|
Arterial dissection, Arterial tortuosity, Patent ductus arteriosus, Dilatation of the cerebral ar... |
ORPHA:284984 |
Joubert Syndrome 1 |
|
Protruding tongue, Renal cyst, Macroglossia, Hepatic fibrosis, Nephropathy |
OMIM:213300 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Testicular neoplasm, Precocio... |
ORPHA:363958 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Aortic root aneurysm, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Meester-Loeys Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... |
OMIM:300989 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili... |
OMIM:613610 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the s... |
ORPHA:1606 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Hypogonadism, High palate, Dy... |
ORPHA:261349 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Elevated hepatic transaminase, Hepatocellular carcinoma, Multiple s... |
OMIM:118450 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cryptorchidism, Supernumerary nipple, Aortic aneurysm |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cryptorchidism, Supernumerary nipple, Aortic aneurysm |
ORPHA:352665 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Pyloric stenosis, Multicystic kidney dysplasia, Gastroesophageal reflux, Cleft palate |
ORPHA:261197 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
Heterotaxy, Visceral, 5, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dextrotransposition of the g... |
OMIM:270100 |
Branchio-Oculo-Facial Syndrome |
|
High palate, Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Larsen Syndrome |
|
Cryptorchidism, Aortic aneurysm |
OMIM:150250 |
Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Duodenal ... |
ORPHA:2308 |
Fontaine Progeroid Syndrome |
|
Prominent superficial veins, Small scrotum, Absent nipple, Cryptorchidism, Patent ductus arterios... |
OMIM:612289 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatoblastoma, Vesicoureteral reflux, Nephropathy, Polycythemia, Hepatomeg... |
ORPHA:116 |
Aicardi-Goutières Syndrome |
|
Micropenis, Aortic aneurysm, Calcification of the aorta, Moyamoya phenomenon |
ORPHA:51 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Myeloid leukemia, Nephroblastoma, Aganglionic megacolon, Abnormality o... |
ORPHA:798 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Transient ischemic attack, Thoracic aortic aneurysm, Abnormal internal carotid artery morphology,... |
ORPHA:365 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, High, narrow palate, Rena... |
ORPHA:3015 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cryptorchidism, Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis |
OMIM:618000 |
Tatton-Brown-Rahman Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Aortic root aneurysm |
ORPHA:404443 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, High palate, Gastroesophageal reflux, V... |
OMIM:616975 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Esophag... |
ORPHA:93271 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Hypospadias, Dilatation of the cerebral artery, Micropenis, Aortic aneurysm |
OMIM:619475 |
Marfan Syndrome |
|
Descending aortic dissection, Dilatation of an abdominal artery, Ascending tubular aorta aneurysm... |
ORPHA:558 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Vascular Ehlers-Danlos Syndrome |
|
Peripheral arteriovenous fistula, Hypospadias, Arterial dissection, Transient ischemic attack, Ao... |
ORPHA:286 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cryptorchidism, Ascending tubular aorta aneurysm |
ORPHA:453499 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Antenatal intracerebral hemorrhage, Aortic aneurysm |
ORPHA:536545 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Ectopic kidney, Horseshoe kidney, Renal cyst, Anteriorly placed... |
OMIM:117650 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Cryptorchidism, Aortic root aneurysm, Hypospadias, Coarctation of aorta |
OMIM:617602 |
Cerebellar-Facial-Dental Syndrome |
|
Cryptorchidism, Ascending tubular aorta aneurysm |
ORPHA:444072 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Renal hypo... |
ORPHA:818 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm |
OMIM:619543 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, ... |
ORPHA:2092 |
Osteogenesis Imperfecta |
|
Cerebral hemorrhage, Aortic root aneurysm, Aortic dissection, Arterial dissection, Aortic aneurysm |
ORPHA:666 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Thoracic aortic aneurysm |
OMIM:619351 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Aortic aneurysm, Peripheral pulmonary artery stenosis, Coar... |
ORPHA:90348 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Anter... |
ORPHA:495875 |
Neonatal Marfan Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Decreased testicular size |
ORPHA:284979 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Pulmonary artery stenosis, Aortic root aneurysm, Ischemic stroke, Gene... |
OMIM:208050 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma |
OMIM:191100 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Malabsorption, Cryptorchid... |
ORPHA:534 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car... |
OMIM:613254 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Agenesis of pineal gland, Cryptorchidism, Ascending tubular aorta aneurysm... |
ORPHA:536471 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ha... |
ORPHA:2750 |
Joubert Syndrome 21 |
|
Splenomegaly, Hyperechogenic kidneys, Renal cyst, Dysphagia |
OMIM:615636 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal dysplasia, Decreased response to growth hormone stimulation test, Renal cyst |
OMIM:617260 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm |
ORPHA:3093 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Anal stenosis, Cry... |
ORPHA:2052 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Macr... |
ORPHA:500095 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re... |
OMIM:107480 |
Laubry-Pezzi Syndrome |
|
Dilatation of the sinus of Valsalva, Ascending tubular aorta aneurysm, Patent ductus arteriosus, ... |
ORPHA:99094 |
Cap Myopathy |
|
Aortic root aneurysm |
ORPHA:171881 |
Trisomy 10P |
|
Absent gallbladder, Abnormality of the kidney, Dysphagia, High palate, Multiple renal cysts, Rect... |
ORPHA:171929 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Coarctati... |
ORPHA:2745 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cleft palate, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Supernumerar... |
OMIM:312870 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Urethral valve, Rectoperine... |
ORPHA:857 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle |
OMIM:616652 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cy... |
ORPHA:538 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... |
ORPHA:42775 |
Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Anal stenosis, Intestinal malrotation, Cleft palate, Gastroesophage... |
OMIM:300373 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypopla... |
ORPHA:97360 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Ascending tubular aorta aneurysm, Micropenis |
OMIM:617403 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts |
OMIM:618733 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Cryptorchidism, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta, Aortic r... |
OMIM:617506 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Small scrotum, Anal stenosis, Enlarged labia minora, Cryptorchidism... |
OMIM:606170 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, A... |
OMIM:619472 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Intracranial hemorrhage, Aortic root aneurysm, Aortic atherosclerotic lesion, Abnormality of the ... |
ORPHA:363618 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Ectopic anus, ... |
ORPHA:1507 |
Blau Syndrome |
|
Abnormal salivary gland morphology, Large vessel vasculitis, Aortic aneurysm |
ORPHA:90340 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Hypospadias, Intestinal malrotation, Splenomegaly, Cleft palate, Multiple renal cysts |
ORPHA:955 |
Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Cryptorchidism, Jaundice... |
ORPHA:3310 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm |
OMIM:130000 |
Marfan Syndrome |
|
Ascending tubular aorta aneurysm, Pulmonary artery dilatation, Aortic root aneurysm, Aortic disse... |
OMIM:154700 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Cryptorchidism, Aortopulmonary window, Pulmonary artery hypop... |
OMIM:620025 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Williams Syndrome |
|
Hypoplasia of penis, Rectal prolapse, Abnormal tubulointerstitial morphology, Nephrocalcinosis, G... |
ORPHA:904 |
Contractural Arachnodactyly, Congenital |
|
Patent ductus arteriosus, Aortic root aneurysm |
OMIM:121050 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Cryptorchidism, Prominent veins on trunk, Varicose veins, Aortic root an... |
ORPHA:536532 |
Kawasaki Disease |
|
Ascending tubular aorta aneurysm, Vasculitis, Double outlet right ventricle with subpulmonary ven... |
ORPHA:2331 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Pulmonary artery aneu... |
OMIM:614437 |
Koolen-De Vries Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Aortic root aneurysm |
OMIM:610443 |
Charge Syndrome |
|
Bifid scrotum, Aortic arch aneurysm, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus... |
ORPHA:138 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Patent ductus arteriosus, Long penis, Aortic root aneurysm |
OMIM:135500 |
Immunodeficiency 23 |
|
Aortic root aneurysm, Vasculitis in the skin |
OMIM:615816 |
Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Intestinal m... |
ORPHA:199 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Cleft... |
ORPHA:1596 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta aneurysm, Transposition o... |
OMIM:612474 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Aortic root aneurysm |
ORPHA:449291 |
Restrictive Dermopathy |
|
Hypospadias, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Ascending... |
ORPHA:1662 |
C Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the anus, ... |
ORPHA:1308 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic root aneurysm |
ORPHA:230851 |
Cerebrocostomandibular Syndrome |
|
Glossoptosis, Multicystic kidney dysplasia, Short hard palate, Cleft palate |
ORPHA:1393 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Chordee, Hypospadias |
OMIM:618891 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Renal hypopl... |
ORPHA:709 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Aortic root aneurysm |
OMIM:616914 |
Sotos Syndrome |
|
Hypospadias, Phimosis, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis, Aortic aneurysm |
ORPHA:821 |
Spondylocarpotarsal Synostosis Syndrome |
|
Cleft palate, Renal cyst |
OMIM:272460 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydrocele testis, Aortic root aneurysm, Patent ductus arteriosus, Peripheral pulmonary artery ste... |
ORPHA:280633 |
Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Ascending aortic dissection |
OMIM:615582 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Aortic root aneurysm |
OMIM:245600 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Increased circulating gonadotropin level, Coarctation of aorta, Gastrointes... |
ORPHA:99413 |
Turner Syndrome |
|
Aortic arch aneurysm, Increased circulating gonadotropin level, Coarctation of aorta, Gastrointes... |
ORPHA:881 |
Mosaic Monosomy X |
|
Aortic arch aneurysm, Increased circulating gonadotropin level, Coarctation of aorta, Gastrointes... |
ORPHA:99228 |
Monosomy X |
|
Aortic arch aneurysm, Increased circulating gonadotropin level, Coarctation of aorta, Gastrointes... |
ORPHA:99226 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric ... |
OMIM:113620 |
Au-Kline Syndrome |
|
Cryptorchidism, Aortic root aneurysm, Supernumerary nipple |
OMIM:616580 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, V... |
ORPHA:2152 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Ascending tubular aorta aneurysm, Cystocele, Arterial dissection |
ORPHA:285 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, R... |
ORPHA:744 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed p... |
ORPHA:261537 |
X Small Rings |
|
Aortic root aneurysm |
ORPHA:96201 |
Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Aortic root aneurysm, Stroke, Vascular calcification, Premature coronary art... |
ORPHA:90324 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Aganglionic... |
OMIM:308205 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed p... |
ORPHA:261552 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Aortic root aneurysm, Patent ductus arteriosus, Hypospadias, Decreased response to growth hormone... |
ORPHA:444077 |
Pallister-Killian Syndrome |
|
Anal stenosis, Small scrotum, Hypospadias, Intestinal malrotation, Supernumerary nipple, Cryptorc... |
OMIM:601803 |
Classical Ehlers-Danlos Syndrome |
|
Arterial dissection, Cervical insufficiency, Dilatation of the cerebral artery, Aortic root aneur... |
ORPHA:287 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Proteinuria, Elevated circulating g... |
ORPHA:79318 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal external genitalia, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Aortic root a... |
OMIM:607872 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Cleft palate, Vesicoureteral reflux... |
OMIM:164210 |