| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
OMIM:618477 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
| Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Hydroxyprolinemia |
|
Microscopic hematuria |
OMIM:237000 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
| Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great... |
OMIM:231060 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypopl... |
OMIM:616749 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
| Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
| Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Atrial septal defect, Ventricular septal defect, Ectopic ... |
ORPHA:401935 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ... |
OMIM:615382 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
| Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Tetralogy of Fallot, Protrud... |
ORPHA:1166 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Microphthalmia, Syndromic 9 |
|
Anophthalmia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary artery atresia, Pelv... |
OMIM:601186 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Renal agenesis, Abnormal lung morphology, Upper limb phocomelia, Abnormal heart morph... |
ORPHA:294975 |
| Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
| Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Ventricular septal defect, Renal hypopla... |
ORPHA:1926 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Overlapping toe, Ventricular septal defect, Partial anomalous pulmonary veno... |
OMIM:617478 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... |
ORPHA:1354 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Anterior creases of earlobe, Hydronephrosis, Hypopl... |
ORPHA:1727 |
| Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
| Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Abnormal coronary artery morphology, Ventricular septal ... |
ORPHA:860 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Renal agenesis, Renal hypo... |
ORPHA:2516 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal... |
ORPHA:1208 |
| Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
| Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... |
OMIM:300963 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s... |
OMIM:608709 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Gombo Syndrome |
|
Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact... |
OMIM:233270 |
| Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
| Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease |
OMIM:615995 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusoria, Double out... |
OMIM:620294 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Hydranencephaly, Truncus arteriosus, Short ... |
OMIM:601355 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Renal agenesis, Anomalous origin of left coronary artery from the ... |
ORPHA:2326 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
| Phaver Syndrome |
|
Broad hallux phalanx, Posteriorly rotated ears, Camptodactyly of finger, Ventricular septal defec... |
ORPHA:2876 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Postaxial polydactyly, Abnormally large globe, Hydrocephalus, Vascular... |
OMIM:603387 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... |
OMIM:618300 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2222 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ... |
OMIM:613885 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... |
OMIM:614779 |
| Heart And Brain Malformation Syndrome |
|
Attached earlobe, Posteriorly rotated ears, Camptodactyly of finger, Ventricular septal defect, L... |
OMIM:616920 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... |
OMIM:613759 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery... |
OMIM:619702 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Splenomegaly, Renal hypoplasia, Foot oligodactyly, Truncus... |
OMIM:616589 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Goiter, Bronchiectasis, Right aortic arch, Hypothyroidism, ... |
OMIM:617577 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Sensorineural hea... |
ORPHA:250989 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati... |
OMIM:263200 |
| Cardiac-Urogenital Syndrome |
|
Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
| Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
| Feingold Syndrome Type 1 |
|
Short middle phalanx of the 2nd finger, Conductive hearing impairment, Vesicoureteral reflux, Cli... |
ORPHA:391641 |
| Seckel Syndrome 9 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:616777 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Mitral stenosis, Camptodac... |
ORPHA:2008 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Lon... |
OMIM:618316 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Abnormality of cartilage of external ear, Double o... |
ORPHA:3426 |
| Pagod Syndrome |
|
Encephalocele, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Situs invers... |
ORPHA:991 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t... |
OMIM:618845 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Ventricular septal defect, Hypospadias, Absent thumb, Short thumb, Patent d... |
OMIM:617516 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hyp... |
OMIM:620025 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Posteriorly rotated ears, Ventricular septal defec... |
OMIM:612946 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
| Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
| Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Sensorineural hearing impa... |
ORPHA:290 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Verheij Syndrome |
|
Branchial cyst, Ventricular septal defect, Truncus arteriosus, Optic nerve hypoplasia, Renal agen... |
OMIM:615583 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Trisomy 13 |
|
Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Pat... |
ORPHA:3378 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph... |
OMIM:145001 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatic cysts, Situs inversus totalis, Asplenia, Abnormal lung lobation, Femoral bowing, Hypertro... |
OMIM:615415 |
| Mosaic Trisomy 1 |
|
Single transverse palmar crease, Renal cyst, Finger clinodactyly, Pulmonary artery atresia, Micro... |
ORPHA:1692 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Pectus excavatum, Cryp... |
OMIM:179613 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia, Hepa... |
OMIM:614859 |
| Small Cell Carcinoma Of The Bladder |
|
Hematuria, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
| Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Encephaloc... |
ORPHA:1908 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Meacham Syndrome |
|
Accessory spleen, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc... |
OMIM:608978 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency |
ORPHA:510 |
| Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
| Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog... |
ORPHA:3266 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Abnormal hand morphology, Patent ductus ar... |
ORPHA:228190 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
| Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... |
OMIM:208530 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis |
OMIM:613779 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Adr... |
OMIM:220210 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Atrial septal defect, Absent gallbladder, Posteriorly rotated ears, Ventricu... |
OMIM:300712 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... |
OMIM:206920 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Patent ductus ... |
ORPHA:99050 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria |
OMIM:245900 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Interrupt... |
OMIM:192430 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Intracranial hemorrhage, Atrial septal defect, Micropeni... |
ORPHA:163979 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Pulmonary hypop... |
OMIM:615524 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Thoracic aortic aneurysm, Posteriorly rotated ears, Ventricular septal defect, De... |
OMIM:619657 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of t... |
OMIM:306955 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... |
OMIM:601927 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria, Hypoalbuminemia |
OMIM:614652 |
| Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormality of the spleen, Abnormal finger morphology, Abnormal lung lobation, Atri... |
ORPHA:2538 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
| Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
| Nephrosialidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency |
OMIM:256150 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Single transverse palmar crease, Cryptorchidism, Patent ductus arteriosus, Macr... |
ORPHA:3304 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Short palm, Clinodactyly of the 5th finger, Atrioventricular canal defect,... |
ORPHA:508498 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephropathy, Nephrolithiasis |
ORPHA:2196 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephrop... |
ORPHA:3033 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Atrial septal de... |
OMIM:136140 |
| Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydr... |
ORPHA:1666 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Congenital hip dislocation,... |
OMIM:609029 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Brittle hair, Colitis, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis ... |
OMIM:614602 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hypospadias, Cryptorchid... |
OMIM:301056 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Atrial septal defect, Conductive hearing im... |
ORPHA:2044 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Adrenal hypopla... |
OMIM:264480 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal tricuspid valve morphology, Abnormal left ventricular outflow tr... |
ORPHA:216694 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Ventricula... |
ORPHA:261344 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| You-Hoover-Fong Syndrome |
|
Hearing impairment, Pectus excavatum, Coarctation of aorta, Vascular ring, Clinodactyly, Double a... |
OMIM:616954 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... |
OMIM:265380 |
| Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... |
OMIM:256300 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
| Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c... |
ORPHA:275555 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid... |
OMIM:620010 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ... |
ORPHA:40366 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Conductive hearing impairment, Abnormal atrial arrangement, Res... |
ORPHA:244 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
| Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Spina bifida occulta, Prominent antitragus, Low-set, posteriorly... |
ORPHA:2437 |
| Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Double outlet left ventricle, Absent gallbladder, Ventricular septal... |
OMIM:600001 |
| Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Absent pulmonary artery, Patent ductus ar... |
OMIM:600460 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Sensorineural hearing impairment, Tetralogy of Fallot, Ventricular septal defect, Peripheral pulm... |
OMIM:617992 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| 16P13.11 Microduplication Syndrome |
|
Arachnodactyly, Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Hand polydacty... |
ORPHA:261243 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Sandal gap, Abnormal pinna morphology, Bicuspid aortic valve, Ventricular septa... |
ORPHA:477817 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morphology, Absent toe,... |
ORPHA:974 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:620235 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Keutel Syndrome |
|
Calcification of the auricular cartilage, Ventricular septal defect, Recurrent bronchitis, Short ... |
OMIM:245150 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar... |
ORPHA:508488 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria |
ORPHA:225 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Campt... |
ORPHA:261330 |
| Emanuel Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Congenital hip dislocation, Ventricular s... |
ORPHA:96170 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly |
ORPHA:2935 |
| Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Transient ischemic attack, Bicuspid aortic valve, Coronary sinu... |
ORPHA:1330 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Secundum atrial septal defect,... |
ORPHA:2257 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
| Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Overlapping toe, Posteriorly rotated ears, Ventricular septal defect, Unila... |
OMIM:618494 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Adrenal insufficiency, Pulmonic stenosis, Tetralogy of... |
ORPHA:251076 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hypoplasia of the semicircular cana... |
ORPHA:138 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t... |
OMIM:214800 |
| Tetrasomy 15Q26 |
|
Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Cupped ear, Hydrocephalus, Hor... |
OMIM:614846 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... |
OMIM:217085 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Femoral bowing, Short long bone, Hypop... |
OMIM:617022 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Aplasia/Hypoplasia of the gal... |
ORPHA:2255 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal ... |
ORPHA:567 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent... |
ORPHA:77298 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ... |
OMIM:270100 |
| Feingold Syndrome 1 |
|
Accessory spleen, Posteriorly rotated ears, Ventricular septal defect, Tricuspid stenosis, Asplen... |
OMIM:164280 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
| Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Tubulointerstitial fibrosis |
OMIM:232500 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Premature thelarche, Bilateral cryptorchidism, Aortic isthmus hy... |
OMIM:180849 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| Prune Belly Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Congenital hip dislocation, Ventr... |
ORPHA:2970 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Camptodactyly of finger, Renal hypoplasia/aplasia, Cryptorchidism, Patent ductus ar... |
ORPHA:2863 |
| Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Down-sloping shoulders, Absen... |
ORPHA:392 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Microcytic anemia, Venous insufficiency, Patent ductus arterios... |
ORPHA:90308 |
| Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition |
ORPHA:2026 |
| Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Anterior basal encephalocele, Tetralogy of Fallot, Pectoral muscle hy... |
OMIM:136760 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption |
OMIM:600955 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ... |
OMIM:274150 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of... |
OMIM:300166 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly... |
OMIM:615996 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
| Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Exencephaly, Nephronophthisis |
OMIM:614464 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| Netherton Syndrome |
|
Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, Sparse eyebrow, Recurrent i... |
OMIM:256500 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated circulating creatine kinase con... |
OMIM:608836 |
| Mmep Syndrome |
|
Ventricular septal defect, Cryptorchidism, Split foot, Triphalangeal thumb, Microphthalmia |
ORPHA:3434 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Increased total bilirubin |
ORPHA:890 |
| Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
| Distal Triplication 15Q |
|
Atrial septal defect, Arachnodactyly, Abnormality of the kidney, Patent ductus arteriosus, Hypopl... |
ORPHA:314588 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Abnormal renal morphology, Double o... |
ORPHA:2209 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Abnormal hand morphology, ... |
ORPHA:371428 |
| Temtamy Syndrome |
|
Brachydactyly, Short toe, Genu varum, Low-set ears, Clinodactyly of the 5th finger, Microphthalmi... |
ORPHA:1777 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Hydrocephalus, Isomerism... |
OMIM:314390 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Hyperlysinemia |
|
Argininuria, Recurrent pneumonia, Cystinuria, Pulmonary artery hypoplasia, Hyperlysinuria, Decrea... |
ORPHA:2203 |
| Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
| Megabladder, Congenital |
|
Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy... |
OMIM:618719 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve... |
ORPHA:261222 |
| Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Low-set ears, Abnormal mitral valve morphology, Tetra... |
ORPHA:1919 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... |
OMIM:617575 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Pulmonary artery stenosis, Postaxial hand p... |
ORPHA:75389 |
| Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Abnormal mitral valve morphology, Pectus excavatum, Cryptorchi... |
ORPHA:1131 |
| Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency |
OMIM:105120 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Liddle Syndrome |
|
Nephropathy, Renal insufficiency, Hypokalemia |
ORPHA:526 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Carious teeth, Dental enamel pits |
OMIM:619787 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hydrocephalus, Hip dislocation, Hip dysplasia, Talipes equinovarus, ... |
ORPHA:250994 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes... |
ORPHA:2325 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Recurrent respiratory infections, Short femur, Hypospadias, Abnormal renal collect... |
ORPHA:17 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, External ear malf... |
ORPHA:251071 |
| Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:26791 |
| Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinoda... |
ORPHA:1106 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... |
OMIM:108900 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, H... |
OMIM:611134 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Posteriorly rotated ears, Single transverse palmar crease, Ventricular septal defect, Patent duct... |
OMIM:619717 |
| Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Asplenia, Abnormal lung lobation, Finger clinodactyly, Endocardi... |
ORPHA:99776 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Maternal diabetes, Micropenis, Cryptorchidism, H... |
OMIM:134780 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Abnormal ao... |
ORPHA:1596 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Posteriorly rotated ears, Sandal gap, Atrial septal defect, Microphthalm... |
OMIM:300887 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... |
OMIM:618164 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Hydranencephaly, Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe syndactyl... |
OMIM:236500 |
| Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Par... |
OMIM:188400 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Nephroblastoma, Hydrocephalus, Large earlobe, Polydactyly,... |
OMIM:602501 |
| Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
| Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
| Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Uric acid nephrolithiasis, Acu... |
ORPHA:411543 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Sta... |
OMIM:614376 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
| Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
| Down Syndrome |
|
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Conductive hearing... |
OMIM:190685 |
| Drug-Induced Lupus Erythematosus |
|
Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
| Noonan Syndrome With Multiple Lentigines |
|
Low-set, posteriorly rotated ears, Abnormal endocardium morphology, Scapular winging, Abnormal mi... |
ORPHA:500 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
| Femoral-Facial Syndrome |
|
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:1988 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Oculofaciocardiodental Syndrome |
|
Short thumb, Patent ductus arteriosus, Sensorineural hearing impairment, Broad palm, 2-3 toe synd... |
ORPHA:2712 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Abnormal cardiac septum mor... |
ORPHA:1937 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Azoospermia, Microcephaly |
OMIM:241000 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Posteriorly rotated ears, Ventricular septal defect, Proximal placem... |
OMIM:620113 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... |
OMIM:232220 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
| Catel-Manzke Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Ventricular septal defect, Camptodactyly... |
ORPHA:1388 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Ventricular septal defect, Pos... |
OMIM:614815 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Branchial cyst, Finger syndactyly, Hypospadias, Single transverse palmar crease, Tapered finger, ... |
ORPHA:435938 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
| Familial Reactive Perforating Collagenosis |
|
Chronic kidney disease |
ORPHA:79147 |
| Holoprosencephaly |
|
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Holoprosencephaly, Encephalocele, D... |
ORPHA:2162 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Leukopenia, Hypoplasia of the thy... |
OMIM:612541 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, A... |
OMIM:616026 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
| Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Ectopic kidney, Anotia, Vesicoureteral reflux, Conductive ... |
OMIM:164210 |
| Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm |
ORPHA:79094 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria |
ORPHA:1473 |
| Gillespie Syndrome |
|
Hypoplasia of the iris, Truncus arteriosus, Aniridia |
OMIM:206700 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Conductive hearing impairment... |
ORPHA:353281 |
| Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of t... |
ORPHA:2470 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
| Ring Chromosome 8 Syndrome |
|
Deviation of finger, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Waardenburg Syndrome Type 2 |
|
Sensorineural hearing impairment, Abnormality of the pulmonary artery, Abnormality of the kidney,... |
ORPHA:895 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Macrotia, Neural tube defect |
OMIM:600776 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
| Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal cardiac ventricle morphology, Hydroceph... |
ORPHA:2306 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... |
OMIM:618761 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Secundum atrial septal def... |
OMIM:600987 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ven... |
OMIM:618142 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Nephrotic syndrome, Focal segm... |
OMIM:617303 |
| Yuan-Harel-Lupski Syndrome |
|
Sandal gap, Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm, Clinodactyly ... |
OMIM:616652 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Patent ductus arteriosus |
ORPHA:2123 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Pancreatic cysts, Splenomegaly, Patent ductus a... |
OMIM:208540 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Atrial septal defect, Conductive hearing impairment, Vesicoureteral reflux... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Atrial septal defect, Conductive hearing impairment, Vesicoureteral reflux... |
ORPHA:353277 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
| Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abn... |
ORPHA:2059 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Alopecia, Malabsorption |
ORPHA:100025 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Amegakaryocytic thrombocytopenia, Sensorineural hearing impairment, Radioulnar... |
ORPHA:71289 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent foramen ovale, Patent d... |
OMIM:618652 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Enterocolitis |
OMIM:616050 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Cryptorchidism, Tetralogy of Fallot, Brachydactyly |
ORPHA:3303 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... |
OMIM:249670 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial se... |
OMIM:607323 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosi... |
OMIM:613404 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Single transverse palmar crease, Protruding ear, Clinodactyly of the 5th f... |
OMIM:612474 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Hypospadias, Pectus excavatum, Patent ductus arteriosus, Pulmonary seq... |
OMIM:618330 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Clinodactyly of the 5th finger, Conductive hea... |
OMIM:201000 |
| 14Q11.2 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Ventricular septal defect, Patent ductus arter... |
ORPHA:261120 |
| Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-oxo-7,8-di... |
OMIM:613630 |
| Joubert Syndrome 14 |
|
Encephalocele, Ventricular septal defect, Posteriorly rotated ears, Postaxial polydactyly, Hydroc... |
OMIM:614424 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Cryptorchidism, Orbital encephalocele, Microphthalmia |
OMIM:164180 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Finger syndactyly, Multicystic kidney dy... |
ORPHA:2092 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Microcephaly, Postaxial hand polydactyly, Hy... |
OMIM:241800 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
| 2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-... |
ORPHA:1617 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormal tibia morphology, Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
| Monosomy 18Q |
|
Abnormal palmar dermatoglyphics, Secundum atrial septal defect, Bilateral cryptorchidism, Micrope... |
ORPHA:1600 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... |
ORPHA:391646 |
| Fetal Minoxidil Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Clinodactyly of the... |
ORPHA:1918 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Metatarsus adductus, Cryptorchidism, Abnormal heart morphology, ... |
OMIM:214110 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Shor... |
ORPHA:1120 |
| Meckel Syndrome |
|
Ureteral duplication, Anophthalmia, Asplenia, Urethral atresia, Low-set, posteriorly rotated ears... |
ORPHA:564 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic... |
ORPHA:79259 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Hypothyroidism, Patent ductus arterio... |
OMIM:619189 |
| Vascular Hyalinosis |
|
Hematochezia, Premature graying of hair, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Overlapping toe, Mitral stenosis, Ventricular septal defect, Hy... |
ORPHA:163956 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Axial malrotation of the kidney, Phocomelia, Clinodactyly of the 5th finger, Genu varum, Low-set,... |
ORPHA:3320 |
| Frank-Ter Haar Syndrome |
|
Abnormally large globe, Secundum atrial septal defect, Protruding ear, Short palm, Atrial septal ... |
OMIM:249420 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Hypospadias, Metatarsus adductus, Short thumb, Abnormal finger m... |
ORPHA:436003 |
| 20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Hypospadias, ... |
ORPHA:261311 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Uplifted earlobe, Palmoplantar hyperkeratosis, Conductive hearing impairment, Clinodactyly of the... |
OMIM:280000 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Patent ductus arteriosus, Hydrocephalus, Overfolded helix, Low-set ears, Clino... |
ORPHA:251046 |
| Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Renal interstitial fibrosis, Nephrono... |
OMIM:616217 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Optic disc hypoplasia, Aplastic anemia, Absent thumb, Hypergonadotropi... |
OMIM:300514 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Polyuri... |
OMIM:615994 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Overriding aorta, Abnormal aortic arch morphology, Arterioveno... |
ORPHA:1110 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Hypoplastic right heart, Ventricular septal defect, Hearing impairment, Patent forame... |
OMIM:616894 |
| Non-Functioning Paraganglioma |
|
Hematuria, Elevated urinary epinephrine level, Elevated urinary dopamine level, Elevated urinary ... |
ORPHA:94080 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Talipes equinovarus, Microphthalmia, Rocker bottom foot, Low-set ears |
OMIM:616570 |
| Alg3-Cdg |
|
Abnormal pinna morphology, Abnormality of the endocrine system, Metaphyseal chondrodysplasia, Abn... |
ORPHA:79321 |
| Nephroblastoma |
|
Hematuria, Nephroblastoma |
ORPHA:654 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, High palate, Bifid uvula |
OMIM:601110 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
| Retinitis Pigmentosa 59 |
|
Hepatomegaly, Renal insufficiency, Micropenis |
OMIM:613861 |
| Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Pneumonia, Decreased response to growth hormone stimulation test, Absent th... |
OMIM:603467 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Hypocalcemia, Polycystic kidney d... |
ORPHA:2237 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum, High palate, Umbi... |
ORPHA:1035 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
| Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of the hand, Abnormal... |
ORPHA:167635 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Hypoplasia of the iris, Subvalvular aor... |
OMIM:613001 |
| Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Sandal gap, Single transverse palmar crease, Adrenal hypoplasia, Vascular dilat... |
OMIM:613177 |
| Galactosemia I |
|
Hepatomegaly, Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, ... |
OMIM:230400 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Single transverse palmar crease, 3-5 toe syndactyly, Atrial septal defect,... |
OMIM:300707 |
| Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
| Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Pectus excavatum, Aortic root aneurysm, Transposit... |
OMIM:619910 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Polycystic kidn... |
ORPHA:261290 |
| Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Villous atrophy, Ileus |
OMIM:304790 |
| Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Micromelia, Cryptorchidism, Postaxial hand polyd... |
ORPHA:2189 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Unilateral renal agenesis, Precocio... |
ORPHA:3306 |
| Anophthalmia Plus Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Spina bifida, Aplasia/Hypoplasia of the earlobes... |
ORPHA:1104 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Postaxial hand polydactyly,... |
ORPHA:66625 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
| Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Cryptorchidism, Hypoplasia of the radius,... |
OMIM:613390 |
| 3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... |
OMIM:619534 |
| Perlman Syndrome |
|
Nephrogenic rest, Renal hamartoma, Cryptorchidism, Nephroblastomatosis, Pancreatic islet-cell hyp... |
OMIM:267000 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Hypospadias, Transposition of the great arteries, Abnormal helix morph... |
ORPHA:1913 |
| Kapur-Toriello Syndrome |
|
Atrial septal defect, Ventricular septal defect, Single transverse palmar crease, Camptodactyly o... |
OMIM:244300 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Short metacarpal, Ventricular septal defect, Abnormality of the endocrine system, ... |
ORPHA:166035 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Sandal gap, Hypospadias, Microcephaly, Renal hypoplasia/aplasia, Abnormality... |
ORPHA:1046 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly, Hydrocephalus |
OMIM:615938 |
| Acquired Ichthyosis |
|
Renal insufficiency |
ORPHA:454 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
| Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
| Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total... |
ORPHA:3097 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... |
ORPHA:411634 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Renal agenesis, Absent radius, Patent ductus arteriosus, Vesicouretera... |
OMIM:115470 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
| Syndromic Diarrhea |
|
Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Sp... |
ORPHA:84064 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Maternal diabetes, Hyposp... |
ORPHA:1708 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:289916 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Renal in... |
ORPHA:449395 |
| Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis |
OMIM:185500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Dilati... |
OMIM:300998 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Posteriorly rotated ears, Ventricular septal defect, Dextrocardia, Pectus exca... |
OMIM:614294 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella... |
OMIM:609945 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic renal dysplasia |
OMIM:613730 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defect, Complete atrioventric... |
OMIM:619343 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Triphalangeal thumb, Vesicoureteral reflux, Conductive hearing impairment,... |
ORPHA:959 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
| Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... |
ORPHA:449400 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T... |
ORPHA:2473 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
| Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
| Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Posteriorly rotated ears, Hip dysplasia, Low-set ears, Left s... |
OMIM:611961 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Posteriorly rotated ears, Anophthalmia, H... |
ORPHA:264200 |
| Pierpont Syndrome |
|
Posteriorly rotated ears, Cryptorchidism, Short toe, Broad palm, Short foot, Large fleshy ears, D... |
OMIM:602342 |
| Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hyperlipidemia, Proteinuria, Abnormality of the kidney |
ORPHA:369 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Trisomy 8P |
|
Short fourth metatarsal, Single transverse palmar crease, Abnormal atrioventricular connection, F... |
ORPHA:264450 |
| Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia, Abnormality of the pulmonary artery |
ORPHA:1065 |
| Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Hearing impairment, Abn... |
ORPHA:96167 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Rhabdoid Tumor |
|
Hematuria, Renal neoplasm |
ORPHA:69077 |
| Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Posteriorly rotated ears, Ventricular septal defect, Patent ductus arteriosu... |
ORPHA:2328 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Abn... |
ORPHA:93267 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Hypospadias, Cryptorchidism, Genu valgum, Te... |
ORPHA:1381 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I... |
OMIM:223900 |
| Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Bicuspid aortic valve... |
ORPHA:261494 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:91138 |
| Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Ventricular septal defec... |
OMIM:220500 |
| Glucose-Galactose Malabsorption |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:35710 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Cupped ear, Lens coloboma, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminenc... |
OMIM:618914 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Ectopic kidney, Hydrocephalus, Coarctation of aorta, Microtia, Anotia,... |
ORPHA:268249 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
| Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hy... |
ORPHA:1335 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:620210 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal morphology of the radius, Microphthalmia, Ventricular septal defect |
ORPHA:3469 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalize... |
OMIM:227810 |
| Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
| Mu-Heavy Chain Disease |
|
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Hepatomegaly |
ORPHA:100024 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal tubular acidosi... |
ORPHA:324525 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Cutaneous finger syndactyly, Abnormal thymus morph... |
OMIM:219000 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Hypospadias, Renal agenesis, Pulmonary arte... |
OMIM:611812 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Posteriorly rotated ears, Dextrocardia, Supernumerary nipple, Cryptorchidism, Coarctation of aort... |
OMIM:618929 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Proximal placem... |
OMIM:618624 |
| Temtamy Syndrome |
|
Brachydactyly, Hip dislocation, Short 2nd toe, Talipes equinovarus, Low-set ears, Microphthalmia,... |
OMIM:218340 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Anophthalmia, Large earlobe |
ORPHA:411986 |
| Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, Cr... |
OMIM:617159 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Patent... |
ORPHA:65759 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus a... |
ORPHA:141127 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Dextrocardia, Hypospadias, Cryptorchidism, Renal hypoplasia, Radioulnar synostosi... |
OMIM:248700 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Glycogen Storage Disease Vii |
|
Hematuria, Exercise-induced myoglobinuria |
OMIM:232800 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Microtia, Camptodactyly, In... |
OMIM:616006 |
| Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney |
ORPHA:79327 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Single transverse palmar crease, Distally placed thumb, Encephalocele, Hypospadias, Tapered finge... |
OMIM:619148 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Renal hypoplasia/aplasia... |
ORPHA:52 |
| Pierpont Syndrome |
|
Posteriorly rotated ears, Uplifted earlobe, Hearing impairment, Cryptorchidism, Short toe, Deep p... |
ORPHA:487825 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Decreased response to gr... |
OMIM:609053 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Thick lower lip vermilion, Overjet, ... |
OMIM:618342 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Hydrocephalus, Renal tubular dysfunction, Atrial septal defect, Choleli... |
OMIM:614886 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Hydrocephalus, Anorectal anomaly, Abnormality of the ureter, Tracheoeso... |
ORPHA:1834 |
| Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Hydrocephalus, Preaxial polydactyly, Hypogonadism, De... |
ORPHA:141333 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Holt-Oram Syndrome |
|
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... |
OMIM:142900 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Recurrent respiratory infections |
ORPHA:2432 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
| Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Abnormal small intestinal villus morphology, Increased stool alpha1-... |
ORPHA:90362 |
| Gaucher Disease, Type Ii |
|
Double aortic arch, Thrombocytopenia, Splenomegaly, Bronchiolitis, Recurrent aspiration pneumonia... |
OMIM:230900 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Posteriorly rotated ears, Ventricular septal... |
OMIM:619980 |
| Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormality of the bladder |
ORPHA:1839 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re... |
OMIM:603194 |
| Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
| Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Diabetes insipidus, Abnormal pleura morphology, Recurrent phar... |
ORPHA:397 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Sensorineural heari... |
ORPHA:139471 |
| Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Holoprosencephaly, Short palm, Patent foramen ovale, Atelectasis, Short toe, ... |
OMIM:269860 |
| Muckle-Wells Syndrome |
|
Renal insufficiency, Renal amyloidosis, Elevated circulating C-reactive protein concentration |
OMIM:191900 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... |
ORPHA:213 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... |
ORPHA:2631 |
| Moebius Syndrome |
|
Syndactyly, Brachydactyly, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Microphthalm... |
OMIM:157900 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly |
OMIM:619858 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Microcephaly, Abnormality of the elbow, Radioulnar synostosis, Clinodactyly of... |
ORPHA:3268 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5... |
OMIM:180860 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finge... |
OMIM:274000 |
| Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly... |
ORPHA:79101 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Microcephaly, Cryptorchidism, Meningocel... |
ORPHA:2311 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Ventricular septal defect, Aplasia/Hypoplasia of the distal pha... |
OMIM:113000 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate |
ORPHA:3019 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia |
ORPHA:57 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Protruding ear, Aort... |
OMIM:301039 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... |
ORPHA:2256 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal... |
OMIM:611561 |
| Liddle Syndrome 1 |
|
Renal insufficiency, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,... |
ORPHA:1001 |
| Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy |
OMIM:619510 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Abnormal pinna morphology, Hypospadias, Pos... |
OMIM:614175 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Posteriorly rotated ears, Ventricular septal defect, Tapered finger, Patent ductus arteriosus, Cu... |
OMIM:613870 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
| Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect |
OMIM:270460 |
| Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus |
ORPHA:2377 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
| Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic... |
ORPHA:1667 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
| 15Q11.2 Microdeletion Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Coarctation of aorta, Abnormal heart morpho... |
ORPHA:261183 |
| Free Sialic Acid Storage Disease |
|
Splenomegaly, Nephrotic syndrome, Proteinuria, Hepatomegaly |
ORPHA:834 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Hearing impa... |
OMIM:618619 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Anophthalmia, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Protr... |
ORPHA:899 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Toe syndactyly, Renal agenesis, Mitral atresia, Ectopic kidney, Pulmonary ar... |
ORPHA:140952 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Microcephaly, Short thumb... |
OMIM:600325 |
| Vacterl With Hydrocephalus |
|
Microtia, third degree, Anophthalmia, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqu... |
ORPHA:3412 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:79312 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Abnormal pinna morphology, Split hand, Hand oligodactyly, Split foot, F... |
OMIM:183600 |
| Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... |
ORPHA:2396 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Abnormal tricuspid valve morphology, Atrial septal defect, Clinodactyly of t... |
ORPHA:1507 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Anterior pi... |
OMIM:206900 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Dextrocardia, Precocious puberty, Long fingers, Macrotia, Cryptorchidi... |
ORPHA:96092 |
| Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros... |
OMIM:178600 |
| Martsolf Syndrome 1 |
|
Osteopathia striata, Finger joint hypermobility, Short palm, Micropenis, Prominent antitragus, Sh... |
OMIM:212720 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Anal atr... |
OMIM:274265 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
| Fanconi Anemia |
|
Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Clinodactyly of the 5th finger, Atria... |
ORPHA:84 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Atrial septal defect, Overlapping toe, Single transverse palmar crease, Ventri... |
ORPHA:464738 |
| Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
| Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Patent ductus ar... |
OMIM:617260 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Pulmonary carcinoid tumor, Intrac... |
ORPHA:363618 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Congenital sens... |
ORPHA:500159 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary ni... |
OMIM:100300 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym... |
OMIM:300400 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Holoprosencephaly, Triphalangeal thumb, Atrial septal defect, Vesicoureteral re... |
OMIM:107480 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Single tr... |
OMIM:272950 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... |
ORPHA:952 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... |
OMIM:175700 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
| Tarp Syndrome |
|
Posteriorly rotated ears, Single transverse palmar crease, Rocker bottom foot, Postaxial polydact... |
OMIM:311900 |
| Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Underdeveloped tragus, Muscular ventricular septal defect, Perimembranous ven... |
OMIM:618804 |
| Ellis Van Creveld Syndrome |
|
Micromelia, Epispadias, Atrial septal defect, Emphysema, Atrioventricular canal defect, Synostosi... |
ORPHA:289 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
| 3C Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Hypoplasia of penis, Ventricular septal defe... |
ORPHA:7 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Metatarsus adductus, Osteopathia striata, Increased axial length of th... |
ORPHA:513456 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f... |
OMIM:300049 |
| Vacterl/Vater Association |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... |
ORPHA:887 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Low-s... |
OMIM:618974 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal ... |
ORPHA:329224 |
| Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene... |
OMIM:617666 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Microphthalmia, Clinodactyly, Hearing impairment |
OMIM:610023 |
| Ogden Syndrome |
|
Ventricular septal defect, Broad hallux, Cryptorchidism, Pulmonary artery stenosis, Low-set ears,... |
ORPHA:276432 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Clinodactyly of the... |
ORPHA:376 |
| Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
| Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Optic nerve hypoplasia, Cryptorchidism, Postaxial han... |
ORPHA:85284 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Asplenia, Accessory spleen, Syndactyly, Cryptorchidi... |
OMIM:249000 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Tibial bowing, Femoral bowing, Short tibia, Short phalanx of fin... |
OMIM:601559 |
| Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic... |
OMIM:227646 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... |
ORPHA:284426 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Neurogenic bladder, Unilateral vertebral artery hypoplasia, Dextroca... |
OMIM:613686 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Thrombocytopenia, Hydrocephalus, Lymphadenopathy, Microphthalmia, Anemia, Hearing i... |
ORPHA:858 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism, Patent ductus arteriosus, Squar... |
OMIM:616300 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Re... |
ORPHA:3186 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Patent ductus arteriosus, Hepatosplenomegaly, Ne... |
ORPHA:505248 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
| Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
| Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Splenomegaly, Postaxial hand p... |
OMIM:216360 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Abnormality of the upper urinary tract, Abnormality of the urethra... |
ORPHA:2145 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Postaxial polydactyly, Complete atrioventricular c... |
OMIM:617925 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Crypt... |
OMIM:249270 |
| Marden-Walker Syndrome |
|
Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Arachnodactyly, Hypospadias,... |
ORPHA:2461 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
| Catel-Manzke Syndrome |
|
Short humerus, Short metacarpal, Short femur, Overriding aorta, Single transverse palmar crease, ... |
OMIM:616145 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Microphthalmia, Hydrone... |
ORPHA:195 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts... |
OMIM:267010 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Bronchiolitis obliterans, Decreased proportion of CD8-positive T cells, Decreased proportion of C... |
OMIM:617241 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Splenome... |
ORPHA:731 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Renal insufficiency, Hypospadias, Nephroblastoma |
OMIM:194072 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... |
OMIM:607426 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Patchy alopecia, Alopecia universalis |
OMIM:606367 |
| Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Duplication of phalanx of hallux... |
OMIM:243310 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Tibial bowing, Protruding ear, Spina bifida occulta, Long hallux, Multicys... |
ORPHA:500095 |
| Glanzmann Thrombasthenia |
|
Macroscopic hematuria |
ORPHA:849 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas... |
ORPHA:230 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Sandal gap, Posteriorly rotated ears, Pectus excavatum, Conductive hearing impairment, Short toe,... |
OMIM:617877 |
| Cousin Syndrome |
|
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... |
OMIM:260660 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Posteriorly rotated ears, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, 2-3 to... |
OMIM:618454 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... |
OMIM:617595 |
| Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Single transverse palmar crease, Hea... |
OMIM:618950 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, C... |
ORPHA:709 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc... |
OMIM:215045 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bron... |
OMIM:615482 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Epidural hemorrhage, Abnormal pelvis bone morphology, Abnormal humer... |
ORPHA:464329 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Cutaneous finger syndactyly, Hypoplastic iliac wing, Atrial septal defect, Short ... |
OMIM:235510 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Sandal gap, Ventricular septal defect, Supernumerary nipple, Pectus excavatum, Cryptorchidism, 3-... |
OMIM:612530 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Pancreatic cysts, Splenomegaly, Renal cy... |
OMIM:610199 |
| Arterial Tortuosity Syndrome |
|
Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Pulmonary artery stenosis, Dilated car... |
ORPHA:3342 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Heterota... |
ORPHA:99125 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi... |
OMIM:173800 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow |
OMIM:618506 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Fetal pyelectasis, Talipes equinovaru... |
OMIM:616531 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Bilateral single transverse palmar creases, Ventricular septal... |
ORPHA:1770 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Cryptorchidism, Abnormality of the ... |
ORPHA:3409 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:27 |
| Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dys... |
OMIM:606232 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Elevated circulating... |
OMIM:619644 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
| Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion |
OMIM:601957 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:36412 |
| Marfan Syndrome |
|
Mitral valve calcification, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Spontane... |
ORPHA:558 |
| Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Arachnodactyly, Bicuspid aortic valve, Ventricular sep... |
OMIM:121050 |
| Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Pectus excavatum, Pulmonary a... |
OMIM:208050 |
| Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroidism, Patent ductus art... |
OMIM:601005 |
| Hemophilia B |
|
Hematuria |
ORPHA:98879 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Tapered finger, Protruding ear, Microtia,... |
OMIM:618829 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Short thumb, Patent ductus... |
OMIM:612561 |
| Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Pulmonic stenosis, Subvalvular aortic st... |
OMIM:620067 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc... |
ORPHA:1756 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Recurrent respiratory infections, Mixed hearing impairment, Calcaneal epiphyseal stippling, Ventr... |
ORPHA:79345 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
| C Syndrome |
|
Short metacarpal, Toe syndactyly, Posteriorly rotated ears, Ventricular septal defect, Micromelia... |
OMIM:211750 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Increa... |
OMIM:256550 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Absent testis, Postaxial polydactyly |
OMIM:613094 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Cryptorchidism, Abnorm... |
ORPHA:3027 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria |
ORPHA:79 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Abnormality of the thyroid gland, Coarctation of aorta, A... |
ORPHA:1923 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
| Desbuquois Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Coxa valga... |
ORPHA:1425 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
| 3Q29 Microdeletion Syndrome |
|
Hypospadias, Tapered finger, Pectus excavatum, Patent ductus arteriosus, Horseshoe kidney, Low-se... |
ORPHA:65286 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Clino... |
OMIM:618067 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... |
OMIM:612562 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return |
OMIM:106700 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender fi... |
OMIM:620393 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Hypospadias, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phyt... |
OMIM:614866 |
| Roifman Syndrome |
|
Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Singl... |
OMIM:616651 |
| Pelvis-Shoulder Dysplasia |
|
Syndactyly, Abnormal pinna morphology, Camptodactyly of finger, Fifth finger distal phalanx clino... |
ORPHA:2839 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Postaxial hand polydactyly, Hydrocephalus, Abnormal localization of ki... |
ORPHA:83473 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Posteriorly rotated ears, Ventricular septal defe... |
ORPHA:284169 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
| Thoracoabdominal Syndrome |
|
Hypospadias, Renal agenesis, Patent ductus arteriosus, Hydrocephalus, Anencephaly, Pulmonary hypo... |
OMIM:313850 |
| De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Congenital hip dislocation, Ventricular septal defect, Pectus... |
ORPHA:2962 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dy... |
OMIM:614922 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Dilated cardiomyopathy, Sandal gap |
ORPHA:2515 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidney, Renal hyp... |
ORPHA:93929 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Posteriorly rotated ears, Rocker bottom foot, Camptodactyly of finger, Adducted thumb, Flared met... |
OMIM:610758 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:1816 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Multicystic kidney dysplasia, Abnormal l... |
ORPHA:1052 |
| Hartsfield Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Split hand, Lobar holoprosencephaly, Aplasia/Hy... |
ORPHA:2117 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal dysplasia, Renal malrotation, Transient neutropenia, Ventricular septal defect, Bowing of t... |
OMIM:617107 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Increased blood urea nitrogen |
ORPHA:90321 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Patent ductus arteriosu... |
OMIM:615398 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Tapered finger, Pyloric stenosis, Nephrolithiasis, Hip dysplasia, Talipes equinovaru... |
OMIM:617219 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect, Finger syndactyly, Toe syndactyly, Microphthalmia |
ORPHA:261272 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Abnormality of the hand, Cryptorchidism, Bilateral microph... |
ORPHA:369891 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Cryptorchidism, Cleft palate, Short 5th finger, Microphallus, Polydactyl... |
ORPHA:397590 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Single transverse palmar crease, Atrial septal defect, Small earlob... |
ORPHA:2886 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Ring Chromosome 10 Syndrome |
|
Sandal gap, Tapered finger, Renal hypoplasia/aplasia, Pectus excavatum, Abnormal antihelix morpho... |
ORPHA:1438 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Pectus excavatum, Patent ductus arteriosus... |
OMIM:104350 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula... |
ORPHA:2438 |
| Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Renal hypoplasia, Postaxial foot polydactyly, Mic... |
OMIM:615665 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect, Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Mic... |
OMIM:618504 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Atrial septal defect, Clinodactyly of t... |
ORPHA:857 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Renal cyst, Hepatomegaly |
OMIM:614862 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Abnormal pinna morphology, Ventricular septal defect, Hypospadias, Preaxial han... |
OMIM:236680 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Urachal Cyst |
|
Hematuria, Urachus fistula, Dysuria, Pyuria |
ORPHA:488 |
| Caroli Disease |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Polycystic kidney dysplasia, Abnormal ... |
ORPHA:53035 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis |
OMIM:607944 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Ventricular septal defect, Single transverse palmar crease, Micromelia, Monkey ... |
OMIM:618870 |
| Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Hypoplastic left heart, Ventricular septal... |
OMIM:616276 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ... |
ORPHA:2141 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Hypospadias, E... |
ORPHA:2211 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Ruvalcaba Syndrome |
|
Hematuria, Abnormal localization of kidney |
ORPHA:3121 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Vesicoureteral reflux, Atrial septal defect, Micropenis, ... |
OMIM:617063 |
| Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Promin... |
OMIM:614609 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Vesicoureteral reflux, Shortening of all distal phalanges of the fingers, Atrial se... |
OMIM:614749 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal... |
OMIM:301043 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Pectus excavatum, Hip dislocation, Stag... |
OMIM:617729 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Atrophic gastritis, Colitis, Villous atrophy |
OMIM:614700 |
| Babesiosis |
|
Splenomegaly, Hepatomegaly, Renal insufficiency |
ORPHA:108 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, ... |
OMIM:218350 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Patent ductus arteriosus, Cys... |
OMIM:277380 |
| Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... |
ORPHA:46627 |
| Gapo Syndrome |
|
Hepatomegaly, Tubulointerstitial fibrosis |
OMIM:230740 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata... |
OMIM:305600 |
| X Small Rings |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, Fetal pyelectas... |
ORPHA:96201 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Postaxial polydactyly, Sens... |
OMIM:618460 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time |
OMIM:619377 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Pectus excavatu... |
OMIM:212780 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal stenosis, Patent fo... |
OMIM:620305 |
| Weaver Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodact... |
ORPHA:3447 |
| Jacobsen Syndrome |
|
Long hallux, Low-set, posteriorly rotated ears, Broad hallux phalanx, Finger syndactyly, Multicys... |
ORPHA:2308 |
| Relapsing Fever |
|
Hematuria, Abnormality of the urinary system, Acute kidney injury |
ORPHA:91547 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Thrombocytopenia, Neutropenia, Microphthalmia, Leukemia, Anemia |
OMIM:614082 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Abnormal lung lobation, Gonadotropin deficiency, Holoprosence... |
ORPHA:672 |
| Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Anopht... |
ORPHA:2052 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Anterior pituitary hypoplasia, Renal cyst, Protruding ear, Clinodactyly of the 5th finger, Microp... |
ORPHA:464306 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyl... |
ORPHA:166024 |
| Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis... |
OMIM:616037 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Hypoplasia of the cochlea, Cupped ear... |
OMIM:613398 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Fractured radius, Posteriorly rotated ears, Ventricular septal defect, Decreased fib... |
OMIM:616897 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Occipital encephalocele, Postaxial hand polydactyly, Bilobed right lung, Hydr... |
OMIM:612284 |
| Ciliary Dyskinesia, Primary, 7 |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Dextrocardia |
OMIM:611884 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Low-set, posteriorly rotated ears, Membranous subvalvular aortic stenosis, Type II diabetes melli... |
ORPHA:3191 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Hypoplasia of the ulna, Ventricular septal defect, Macrotia, Multip... |
OMIM:118450 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Absent thumb, Crypt... |
ORPHA:96097 |
| Congenital Myopathy 12 |
|
Arachnodactyly, Pulmonary artery stenosis, Camptodactyly, Overlapping fingers, Joint contracture ... |
OMIM:612540 |
| Cofs Syndrome |
|
Microphthalmia, Sensorineural hearing impairment, Hypogonadism, Camptodactyly of finger |
ORPHA:1466 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hypertrophy of the urinary bladder, Large fleshy ears, Atrial septal defect, Prominent superior c... |
ORPHA:280633 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Absen... |
OMIM:227650 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
| Chromosome 18Q Deletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Atrial septal... |
OMIM:601808 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Congenital pseudoarthrosis of the clavicle, Dextrocardia |
ORPHA:66630 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Uplifted earlobe, Hypospadias, Recurr... |
OMIM:616449 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormality of the parathyroid gland, Abnor... |
ORPHA:3429 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
| Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal lung lobation, Re... |
OMIM:270400 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Absen... |
OMIM:600901 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,... |
OMIM:250410 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Cryptorchidism, Transposition of the great arteries, Talipes equinovarus, Low-set ears, Clinodact... |
OMIM:616789 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypop... |
ORPHA:2166 |
| Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, M... |
ORPHA:1528 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... |
ORPHA:73246 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Sensorineural hearing impairm... |
OMIM:615636 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Pectus excavatum, Camptodactyly, Microphthalmia, Macrotia |
OMIM:619694 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Anophthalmia, Camptodactyly of finger, Pectus excavatum, Cryptorchidism, Ulnar deviation of finge... |
ORPHA:1101 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
| Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Hypoplastic ilia, Cryptorchidism, Patellar aplasia... |
ORPHA:85201 |
| Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Atrial septal defect, Recurren... |
OMIM:616898 |
| Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
| Loeys-Dietz Syndrome 1 |
|
Atrial septal defect, Arachnodactyly, Bicuspid aortic valve, Arterial tortuosity, Descending thor... |
OMIM:609192 |
| Robinow Syndrome |
|
Atrial septal defect, Webbed penis, Micropenis, Syndactyly, Multicystic kidney dysplasia, Cryptor... |
ORPHA:97360 |
| Schizophrenia 1 |
|
Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Protruding ear, Short pr... |
OMIM:181510 |
| Atelosteogenesis, Type Ii |
|
Sandal gap, Micromelia, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Cleft p... |
OMIM:256050 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Microcephaly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones, Cutaneous f... |
OMIM:600384 |
| Boomerang Dysplasia |
|
Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap... |
ORPHA:1263 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Protr... |
OMIM:614976 |
| Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria |
OMIM:617671 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Hypodontia |
OMIM:616029 |
| Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Meningocele, Abnormal tricuspid valve morphology, Camptodactyly of finger |
ORPHA:1759 |
| Marfan Syndrome |
|
Bicuspid aortic valve, Equinus calcaneus, Increased axial length of the globe, Hypoplasia of the ... |
OMIM:154700 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Decreased respon... |
ORPHA:1896 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Cryptorchidism, Low-set ears, Microphthalmia, Macrotia |
OMIM:600118 |
| Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Ovarian cyst, Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Optic nerve hypoplasia... |
OMIM:617506 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Intestinal malrotation, Pulmonary hypoplasia, Clinodactyly of the 5th... |
OMIM:601163 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Chronic kidney disease, Hydr... |
OMIM:615630 |
| Rere-Related Neurodevelopmental Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Hypospadias, Cryptorchidism, Abnorm... |
ORPHA:494344 |
| Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Sim... |
OMIM:619318 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal... |
ORPHA:1225 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Atrial sept... |
ORPHA:2911 |
| Legionnaires Disease |
|
Hematuria, Renal insufficiency, Proteinuria |
ORPHA:549 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Ectopic kidney, Renal c... |
OMIM:122470 |
| Rhyns Syndrome |
|
Renal insufficiency, Chronic kidney disease, Nephronophthisis |
OMIM:602152 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Atrial septal defect, Posteriorly rotated ears, Rocker bottom foot, Ventricular septal... |
OMIM:612582 |
| Ciliary Dyskinesia, Primary, 17 |
|
Situs inversus totalis, Recurrent respiratory infections, Bronchiectasis, Dextrocardia |
OMIM:614679 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Calcaneovalgus deformity, Patent foramen ovale, Finger syndactyly, Spina bifida, Cryp... |
OMIM:256520 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe... |
ORPHA:88630 |
| H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Enlarged kidney |
ORPHA:168569 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Pectus excavatum, Patent ductus arteriosus, Abnormal lung... |
ORPHA:369837 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Arachnodactyly, Sandal gap, Ventricular septal defect, Repeated pneumothora... |
OMIM:617602 |
| Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Short palm, Synostosis of carpal bones, Encephalocele, Hyposp... |
ORPHA:90652 |
| Monosomy 5P |
|
Finger syndactyly, Microcephaly, Small hand, High palate, Intrauterine growth retardation |
ORPHA:281 |
| Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... |
ORPHA:261537 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris... |
OMIM:616367 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum... |
ORPHA:137834 |
| Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Hypospadias, Microcephaly, Cryptorchidism, Velopharyngeal insufficienc... |
OMIM:300978 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Talipes equinovarus |
OMIM:616171 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Villous atrophy, Brittle hair, Fine hair, Sparse hair, Woolly hair, Bifid uvula, Tric... |
OMIM:222470 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Macrotia, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chron... |
OMIM:619487 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... |
OMIM:308050 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal tibia morphology, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Abno... |
ORPHA:251014 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Finger cli... |
OMIM:602531 |
| Triploidy |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Cryptorchidism, Hydr... |
ORPHA:3376 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Ventricular septal defect, Micromelia, Cr... |
ORPHA:2772 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Cardiomegaly, Abnor... |
ORPHA:3472 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Posteriorly rotated ears, Eosinophili... |
OMIM:617237 |
| Bladder Exstrophy |
|
Hypoplasia of penis, Recurrent urinary tract infections, Intestinal malrotation, Epispadias, Abno... |
ORPHA:93930 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Single transverse palmar crease, Uplifted earlobe, Adrenal hypoplasia, Protruding e... |
OMIM:607932 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve... |
ORPHA:93932 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Postaxial polydactyly, Cryptorchidism, 2-3 toe syndactyly, Abnormal he... |
ORPHA:404440 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Ventricular septal defect, Hypos... |
OMIM:616975 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:228305 |
| Complement Factor I Deficiency |
|
Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections, Pyelonephritis |
OMIM:610984 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypop... |
OMIM:617895 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pleura... |
OMIM:615355 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria |
OMIM:274270 |
| Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
ORPHA:1830 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria |
OMIM:617021 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomer... |
OMIM:232240 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem... |
OMIM:229850 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:861 |
| Trisomy 20P |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Spina bifida, Abnormality of the kidney,... |
ORPHA:261318 |
| Lethal Congenital Contracture Syndrome 11 |
|
Elbow flexion contracture, Bilateral talipes equinovarus, Pulmonary hypoplasia, Camptodactyly, In... |
OMIM:617194 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Tapered finger, Pectus excavat... |
ORPHA:464311 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Sensorineural hearing ... |
ORPHA:1825 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, Hypospadias, Precocious puberty, 2-3 toe syndactyly, Microphthalmia, 3-... |
OMIM:615877 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Wide mouth, High palate, Long philtrum |
OMIM:618825 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Dec... |
OMIM:614114 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Abnormal aortic arch morphology, Tibial bowing, Hypoplastic ilia... |
ORPHA:96334 |
| Ciliary Dyskinesia, Primary, 38 |
|
Conductive hearing impairment, Bronchiectasis, Dextrocardia, Situs inversus totalis |
OMIM:618063 |
| Joubert Syndrome 37 |
|
Posteriorly rotated ears, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, Low-set ears, Mi... |
OMIM:619185 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Holoprosencephaly, Clinodactyly, ... |
ORPHA:1445 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Vesicoureteral reflux, Short foot, A... |
ORPHA:228399 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch... |
OMIM:614099 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arachnodactyly, Abnormal pinna morphology, Arterial tortuosity, Pectus excavatum, Emphysema, Aort... |
OMIM:614437 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon... |
OMIM:251000 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis |
ORPHA:183 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Hypergonadotropic hypogona... |
OMIM:227645 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned... |
ORPHA:1327 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Hypospadias, Sandal gap, Camptodactyly of finger, Down-s... |
ORPHA:1520 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria |
ORPHA:853 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Pectus ... |
ORPHA:193 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Abnormal pinna morphology, Rocker bottom foot, Ventricular septal def... |
ORPHA:3078 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth |
OMIM:619356 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, Hydrocephalus, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of meta... |
OMIM:300863 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Abnormal lung lobation, Renal cyst, Narrow greater sciatic notch, Short palm, Atrial septal defec... |
OMIM:312870 |
| Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:77297 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis, 2-3 toe syndactyly, R... |
OMIM:608572 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Ventricular septal defect, Abnormal antihelix morphology, Low-set... |
ORPHA:85194 |
| Alzahrani-Kuwahara Syndrome |
|
Posteriorly rotated ears, Pulmonary artery sling, Coronary sinus enlargement, Ventricular septal ... |
OMIM:619268 |
| Cardiospondylocarpofacial Syndrome |
|
Pseudoepiphyses, Atrial septal defect, Conductive hearing impairment, Vesicoureteral reflux, Pate... |
OMIM:157800 |
| Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly... |
OMIM:606003 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome,... |
ORPHA:263455 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Postaxial hand polydactyly, Hydrocepha... |
ORPHA:2075 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| 48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Posteriorly rotated ears, Ventricular septal defect, Long fingers, Patent ductus arteri... |
OMIM:615668 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
OMIM:220110 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Exercise... |
OMIM:201475 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Hydroc... |
OMIM:309801 |
| Refsum Disease |
|
Short metacarpal, Renal insufficiency, Splenomegaly, Sensorineural hearing impairment, Cardiomyop... |
ORPHA:773 |
| Hamamy Syndrome |
|
Long toe, Syndactyly, Atrial septal defect, Hypoparathyroidism, Down-sloping shoulders, Tapered f... |
OMIM:611174 |
| Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Pulmonary hypoplasia, Neonatal death, Int... |
OMIM:619003 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Unilateral cryptorchidism, Patent ductus arteriosus, Small hand, Low-set ears, Clinod... |
OMIM:616489 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Cryptorchidism, Male hypogonadism, Macrotia, Hearing impairment |
ORPHA:90322 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Arachnodactyly, Bicuspid aortic valve, Abnormality of the hand, Cereb... |
ORPHA:536545 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, 1... |
OMIM:617201 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency |
OMIM:247410 |
| Leopard Syndrome 1 |
|
Limited elbow movement, Protruding ear, Aplasia of the ovary, Micropenis, Spina bifida occulta, S... |
OMIM:151100 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Foot oligodactyly, Triphalangeal thumb, Con... |
OMIM:154400 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... |
ORPHA:420561 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Ante... |
OMIM:610829 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi... |
OMIM:619762 |
| Immunodeficiency 31C |
|
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Unilateral renal agenesis, Pectus ex... |
ORPHA:457284 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Patent ductus arteriosus, Sensorin... |
OMIM:617751 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr... |
OMIM:619142 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Holoprosencephaly, Microphth... |
OMIM:147250 |
| Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral retroversion, Micromelia, Bowing of... |
OMIM:610682 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Anomalous pulmonary venous return, Abnorma... |
ORPHA:2184 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Ventricular septal defect, Postaxial polydactyly, Unilateral renal agenesis, Spleno... |
OMIM:614576 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hyperalaninemia, Renal insufficiency, Mild proteinuria |
OMIM:619147 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Renal cyst, Hypoplastic iliac wing, Nephritis, S... |
OMIM:208500 |
| Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypogonadotropic hypogonadism, Pulmonary artery ... |
OMIM:301030 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Decreased testicular size, Atrial septal defect, Toe syndactyly, Ventricular septal defect, Singl... |
ORPHA:459070 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... |
OMIM:619895 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612463 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Posteriorly rotated ears, Low-set ears |
OMIM:314320 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating C-reactive protein concent... |
OMIM:615559 |
| Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Sandal gap, Ventricular septal defect, Postaxial polydactyly, U... |
OMIM:174300 |
| Microscopic Polyangiitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria |
ORPHA:727 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Overriding aorta, Ventricular septal defect, Limited elbow movemen... |
OMIM:101200 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Elbow flexion contracture, Still... |
OMIM:617468 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Patent ductus arteriosus, Tubulo... |
ORPHA:33001 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Recurrent pharyngitis, V... |
ORPHA:2331 |
| Hajdu-Cheney Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, ... |
OMIM:102500 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Coarcta... |
ORPHA:3092 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Clubbing of fingers, Left ventricular hypertrophy, Mic... |
ORPHA:335 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Noonan Syndrome 2 |
|
Atrial septal defect, Abnormal coronary artery origin, Posteriorly rotated ears, Mitral stenosis,... |
OMIM:605275 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Cardiomyopathy, Hydrocephalus |
OMIM:613155 |
| Congenital Factor V Deficiency |
|
Hematuria |
ORPHA:326 |
| Duodenal Atresia |
|
Annular pancreas, Abnormality of the pulmonary artery |
ORPHA:1203 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Microcephaly, Narrow palate, Short first metata... |
OMIM:613684 |
| Meester-Loeys Syndrome |
|
Aortic dissection, Arachnodactyly, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aorti... |
OMIM:300989 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... |
ORPHA:261552 |
| Tetraamelia Syndrome 2 |
|
Absent nipple, Ventricular septal defect, Hypoplastic pulmonary veins, Bilateral lung agenesis, L... |
OMIM:618021 |
| Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
| Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Thick lower lip vermilion, Cleft palate, Wide mouth, Macroglossia, Thi... |
OMIM:614607 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Meningocele, Renal cyst, Protrud... |
ORPHA:2031 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... |
ORPHA:42775 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
| Osteopathia Striata With Cranial Sclerosis |
|
Osteopathia striata, Atrial septal defect, Conductive hearing impairment, Clinodactyly of the 5th... |
OMIM:300373 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Megaloblastic anemia, Sensorineural hearing impairm... |
ORPHA:49827 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
| Monosomy 18P |
|
Pectus excavatum, Protruding ear, Abnormal antihelix morphology, Holoprosencephaly, Microphthalmi... |
ORPHA:1598 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, Abnormal... |
ORPHA:79303 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Sandal gap, Single transverse palmar crease, Ventricular ... |
OMIM:617061 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Macroglossia, High palate, Thick vermilion border, Lo... |
OMIM:616354 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia |
ORPHA:85321 |
| Opitz-Kaveggia Syndrome |
|
Single transverse palmar crease, Anteriorly placed anus, Prominent fingertip pads, Syndactyly, Hy... |
OMIM:305450 |
| Chromosome 9P Deletion Syndrome |
|
Long toe, Sandal gap, Posteriorly rotated ears, Hallux varus, Tapered finger, Ventricular septal ... |
OMIM:158170 |
| Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth... |
ORPHA:1133 |
| Caroli Syndrome |
|
Hepatomegaly, Abnormality of the kidney, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Polyc... |
ORPHA:480520 |
| Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, C... |
OMIM:272440 |
| Laron Syndrome |
|
Microdontia, Tooth agenesis, Delayed eruption of teeth, Micrognathia |
ORPHA:633 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Doors Syndrome |
|
Adrenal hyperplasia, Abnormal finger morphology, Nephrocalcinosis, Triphalangeal thumb, Aspiratio... |
ORPHA:79500 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Urinary mulberry cells, Left ventricular hypertrophy, Lipiduria |
OMIM:301500 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Abnormal lung lobation, Holoprosencephaly, Atri... |
ORPHA:818 |
| Myhre Syndrome |
|
Hypoplastic iliac wing, Atrial septal defect, Pericardial effusion, Cryptorchidism, Short toe, Pa... |
OMIM:139210 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Macroorchidism, Arachnodactyly, Ventricular septal defec... |
OMIM:309520 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Protruding ear, Palmoplantar keratoderma... |
ORPHA:2251 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Hypospadias, Microcephaly, Wide anterior fontanel, Hand polydactyly, Hi... |
OMIM:239710 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnormality of the endocr... |
ORPHA:166119 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria |
ORPHA:35909 |
| Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Thickened helices, Abnormal pul... |
ORPHA:648 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Toe syndactyly, Arachnodactyly, Overlapping toe, Ventric... |
ORPHA:505237 |
| Koolen-De Vries Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular sept... |
OMIM:610443 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
| Renpenning Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, P... |
OMIM:309500 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Noonan Syndrome 10 |
|
Atrial septal defect, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Patent ductus ... |
OMIM:616564 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Steatorrhea |
OMIM:212065 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
| Proboscis Lateralis |
|
Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Paten... |
ORPHA:141099 |
| Ciliary Dyskinesia, Primary, 2 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Hearing i... |
OMIM:606763 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia |
OMIM:614450 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Overlapping toe, Down-sloping shoulders, Abnormal pinna morphology, Tapered finger, Ventricular s... |
OMIM:617452 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial... |
ORPHA:476126 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Posteriorly rotated ears, Pericardial effusion, Hydrocephalus, Cutaneous syndact... |
OMIM:617822 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Abnormally large globe, Pancreatic lymphangiectasis, Postaxial hand po... |
ORPHA:1655 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Cupped ear, Aplasia of th... |
ORPHA:1352 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Stapes ankylosis, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Lob... |
OMIM:614701 |
| Cystic Echinococcosis |
|
Multiple pulmonary cysts, Pulmonary cyst, Eosinophilia, Abnormality of the testis size, Renal cys... |
ORPHA:400 |
| Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Finger clinodactyly, Premature a... |
ORPHA:79474 |
| Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Brachydactyly, Abnormal pinna morphology, Single transverse pal... |
OMIM:610253 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Atrial septal defect, Multicystic kidney dysplasia, Dextrocardia, Sensorineural hearing impairmen... |
ORPHA:261197 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Abnormal palmar dermatoglyphics, Cryptorchidism, Microtia, Multiple bladder divertic... |
ORPHA:2728 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Pectus excavatum, Abnormal heart morphology, Protruding ear, Low-set ears, Micro... |
OMIM:618571 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3380 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, Postaxial polydact... |
OMIM:605627 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Rocker bottom foot, Coxa valga, Cryptorchidism, Sensorineural hearing impairment, Recurrent pneum... |
OMIM:214150 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Overlapping toe, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth |
OMIM:619797 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Abnormal circulating C-peptide concentration,... |
ORPHA:552 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Hydrocephalus, Preaxial polydactyly, Anence... |
OMIM:616546 |
| Limb Body Wall Complex |
|
Encephalocele, Atrial septal defect, Duplication of hand bones, Broad hallux, Aplasia/hypoplasia ... |
ORPHA:2369 |
| Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Hydrocephalus, Meta... |
ORPHA:163966 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo... |
ORPHA:50814 |
| Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
| Distal Deletion 12Q |
|
Single transverse palmar crease, Ectopic kidney, Aplasia/Hypoplasia of the middle phalanx of the ... |
ORPHA:96149 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Hydroureter, Sensorineur... |
ORPHA:1458 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Malrotation of colon, Abnormal ossification involving the femoral head a... |
ORPHA:1190 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Triphalangeal thumb, Patent urachu... |
OMIM:192350 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Precocious pube... |
OMIM:620073 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia... |
OMIM:610125 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Atresia of the external auditory canal, Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| White Forelock With Malformations |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Atrial septal defect, Clinodactyly of the 5... |
ORPHA:2475 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Chops Syndrome |
|
Brachydactyly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Splenomegaly,... |
OMIM:616368 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria, Hepatic necrosis |
OMIM:231530 |
| Jacobsen Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, P... |
OMIM:147791 |
| Werner Syndrome |
|
Renal neoplasm, Rocker bottom foot, Abnormal cerebral vascular morphology, Pulmonary artery steno... |
ORPHA:902 |
| Kagami-Ogata Syndrome |
|
Atrial septal defect, Ventricular septal defect, Coxa valga, Long fingers, Patent ductus arterios... |
OMIM:608149 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Leukopenia, Microtia, Atrial septal ... |
OMIM:620184 |
| Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Hypoplasia of the thymus, Small earlobe, Genu varum, Long toe, Hyp... |
OMIM:264090 |
| Lateral Meningocele Syndrome |
|
Neurogenic bladder, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defect, A... |
OMIM:130720 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Clinodactyly of the 5th finger, Pho... |
ORPHA:3103 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Single transverse palmar crease, Renal hypoplasia, Microphthalmia, Hypertrophic cardio... |
OMIM:619053 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Prominent fingertip pads, S... |
OMIM:309800 |
| Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Pulmonary a... |
OMIM:301068 |
| Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Microphthalmia, Clinodactyly, Thrombocytopenia, Hearing i... |
OMIM:619981 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Pectus excavatum, Overfolded helix, Large fleshy ears, Low-set ears, ... |
OMIM:619092 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Abnormal pinna morphology, Hypospadias, Proximal placement of thumb, Cryptorchidism, ... |
OMIM:217980 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Microcephaly, Preaxial polydactyly, Spina bifida... |
ORPHA:64754 |
| Microcephaly-Capillary Malformation Syndrome |
|
Brachydactyly, Ventricular septal defect, Vesicoureteral reflux, Low-set ears, Right ventricular ... |
OMIM:614261 |
| Ververi-Brady Syndrome |
|
Cupped ear, Transposition of the great arteries, Low-set ears, Clinodactyly of the 5th finger, Ma... |
OMIM:617982 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
| Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... |
ORPHA:2476 |
| Microphthalmia, Lenz Type |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of ... |
ORPHA:568 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Tetrasomy 9P |
|
Clinodactyly of the 5th finger, Micropenis, Patent foramen ovale, Bilateral single transverse pal... |
ORPHA:3310 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Hydrocephalus, Bilateral talipes equinovarus, Pulmonary hypoplasia, Secondary microcephaly |
OMIM:618174 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent... |
OMIM:615444 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
| Constricting Bands, Congenital |
|
Encephalocele, Syndactyly, Abnormal lung lobation, Hand polydactyly, Talipes equinovarus, Ectopia... |
OMIM:217100 |
| Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Hydrocephalus, Protruding ear, Absent distal phalanges, Short mi... |
OMIM:614219 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Posteriorly rotated ears, Ventricular septal defect, Renal duplication, Ectopi... |
OMIM:613309 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency |
OMIM:615986 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Hydrocephalus, Abnormal lung... |
ORPHA:3301 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Spinal dysraphism |
ORPHA:1114 |
| Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Rieger anomaly, Diabetes mellitus, Sandal gap, Ventricular septal defect, P... |
OMIM:270450 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... |
ORPHA:2035 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti... |
ORPHA:915 |
| Penoscrotal Transposition |
|
Hypospadias, Renal agenesis, Abnormality of the urethra, Penoscrotal transposition, Patellar apla... |
ORPHA:2842 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Patent ductus arteriosus, Arteri... |
ORPHA:1556 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atri... |
OMIM:300855 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele, Talipes equinovarus |
OMIM:617255 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Aniridia, Low-set ears, Camptodactyly of t... |
ORPHA:251038 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Renal insufficiency, Rhizomelia, Simple ear, Splenomegaly, Postaxial hand polydactyly... |
OMIM:613610 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Adrenal hypoplasia, Aminoaciduria, Ulnar deviation of the hand o... |
OMIM:214100 |
| Jansen-De Vries Syndrome |
|
Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defect, Small hand, Short foo... |
OMIM:617450 |
| Craniofaciofrontodigital Syndrome |
|
Atrial septal defect, Prominent superficial veins, Anomalous branches of internal carotid artery,... |
ORPHA:363705 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Neonatal epiphyseal stippling, Hip d... |
ORPHA:35173 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect |
OMIM:126320 |
| Gaucher Disease Type 1 |
|
Hematuria, Proteinuria |
ORPHA:77259 |
| Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia, Recurrent aspiration pneumonia |
OMIM:300484 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Reticulocytopenia, Leukopenia, Triphalangeal thumb,... |
ORPHA:124 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Small hand, Absent distal phalanges, Low-set ears, Microphthalmi... |
OMIM:619339 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc... |
OMIM:257850 |
| Coffin-Siris Syndrome 3 |
|
Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Thick vermilion bord... |
OMIM:614608 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Hypospadias, Renal agenesis, Malrotation of... |
ORPHA:139466 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Omodysplasia 1 |
|
Short humerus, Rhizomelia, Increased fibular diameter, Ventricular septal defect, Cryptorchidism,... |
OMIM:258315 |
| Pheochromocytoma |
|
Hypercalcemia, Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... |
ORPHA:217346 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:247691 |
| Noonan Syndrome 4 |
|
Atrial septal defect, Ureteral duplication, Pectus excavatum of inferior sternum, Posteriorly rot... |
OMIM:610733 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Left atrial enlargement, Clubbing of toes, Right ventricular di... |
ORPHA:99106 |
| 2P15P16.1 Microdeletion Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of fing... |
ORPHA:261349 |
| Stormorken Syndrome |
|
Hematuria |
OMIM:185070 |
| Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Hypospadias, Ectopic kidney |
OMIM:606744 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Sensorineural hearing impair... |
OMIM:612938 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Urinary incontinence, Microcephaly |
OMIM:615284 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th finger morphology, Pectus... |
ORPHA:1439 |
| Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... |
OMIM:242900 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Spondyloenchondrodysplasia |
|
Hematuria, Chronic kidney disease, Proteinuria |
ORPHA:1855 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Atrial septal defect, Clin... |
ORPHA:373 |
| 4H Leukodystrophy |
|
Delayed eruption of teeth, Hypodontia, Abnormality of the dentition |
ORPHA:289494 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Intestinal malrotation, Aqueductal stenosis, Abnormal fi... |
ORPHA:3035 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Fifth finger distal phalanx clinoda... |
ORPHA:3369 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Patent ductus arter... |
ORPHA:457193 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Atrial septal defect, Sandal gap, Ventricular septal defect, Hypos... |
ORPHA:254346 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia, Deep palmar crease |
OMIM:600251 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Hydrocephalus, Dilated cardiomy... |
ORPHA:2556 |
| Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Small hand, Broad palm, Hydrocele testis, Aortic root aneurysm, Pulmon... |
OMIM:145420 |
| Peutz-Jeghers Syndrome |
|
Rectal prolapse, Clubbing, Abnormality of the ureter, Multiple gastric polyps, Hamartomatous poly... |
OMIM:175200 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypoph... |
ORPHA:469 |
| Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Hemolytic anemia, Abnormal eosinophil morphology, Recurrent int... |
ORPHA:906 |
| Smith-Magenis Syndrome |
|
Toe syndactyly, Microcephaly, Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, ... |
ORPHA:819 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Renal hypoplasia/aplasia, ... |
ORPHA:3258 |
| Congenital Varicella Syndrome |
|
Microphthalmia, Micromelia |
ORPHA:291 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
| Chronic Mucocutaneous Candidiasis |
|
Hematuria, Recurrent urinary tract infections |
ORPHA:1334 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Uplifted earlobe, Hearing impairment, Asp... |
OMIM:617746 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Conductive hearing impairment, Clinod... |
ORPHA:1606 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Conotruncal defect, Coarctation of aort... |
ORPHA:96147 |
| Sclerosteosis |
|
Finger syndactyly, Sensorineural hearing impairment, 2-3 finger syndactyly, Curved distal phalang... |
ORPHA:3152 |
| Lambotte Syndrome |
|
Ventricular septal defect, Atresia of the external auditory canal, Preaxial foot polydactyly, Mac... |
OMIM:245552 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Renal cyst, Conductiv... |
OMIM:113620 |
| Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Hydrocephalus, Renal cyst, Postax... |
OMIM:608091 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renal cyst, Stroke-like episode, Polycyst... |
ORPHA:137675 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Atrial septal defect, Toe syndactyly, Posteriorly rotated ears, Single transverse palmar crease, ... |
OMIM:610759 |
| Penile Agenesis |
|
Urethral atresia, male, Posteriorly rotated ears, Ventricular septal defect, Maternal diabetes, H... |
ORPHA:49 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Ventricular septal defect, Aplasia/Hypopl... |
ORPHA:94066 |
| Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, 3-4 finger cuta... |
OMIM:615236 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flat acetabular roof, Flattened epiphysis, Hemiatrophy of u... |
ORPHA:163649 |
| Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidos... |
OMIM:208085 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Hearing impairment, Pectus excav... |
ORPHA:2990 |
| Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dys... |
ORPHA:110 |
| Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Uplifted earlobe, Supernumerary nipple, Hyposp... |
OMIM:235730 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... |
ORPHA:508 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Hydrocephalus,... |
OMIM:607361 |
| Wilson Disease |
|
Hepatomegaly, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, ... |
OMIM:277900 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... |
ORPHA:340 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Macrotia, Bra... |
ORPHA:1406 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Pectus excavatum, Patent ductus arteriosus, Abnormal heart morphology, Pul... |
ORPHA:2847 |
| Alg9-Cdg |
|
Villous atrophy, Low posterior hairline, Gastroesophageal reflux, Hypoplastic nipples, Bifid uvul... |
ORPHA:79328 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Mi... |
ORPHA:2994 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Anterior encephalocele, Foot oligodactyly, Holoprosenceph... |
OMIM:601357 |
| Atelis Syndrome 2 |
|
Single transverse palmar crease, Thrombocytopenia, Patent ductus arteriosus, Elevated circulating... |
OMIM:620185 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect, Clinodactyly, Anal atresia, Cutaneous syndactyly |
OMIM:119580 |
| Thanatophoric Dysplasia |
|
Abnormality of the kidney, Micromelia, Abnormal sacroiliac joint morphology, Hydrocephalus, Hip d... |
ORPHA:2655 |
| Gracile Bone Dysplasia |
|
Asplenia, Hydrocephalus, Flared metaphysis, Micropenis, Slender long bone, Aniridia, Microphthalm... |
OMIM:602361 |
| Coffin-Siris Syndrome 7 |
|
Brachydactyly, Posteriorly rotated ears, Bicuspid aortic valve, Ventricular septal defect, Pectus... |
OMIM:618027 |
| Microphthalmia, Syndromic 13 |
|
Anteverted ears, Microphthalmia |
OMIM:300915 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Ventricular septal defect, Spina bifida, Conductiv... |
ORPHA:1393 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Short metatarsal, Renal cyst, Nephronophthisis, Clinodactyly of the 5th fin... |
OMIM:266920 |
| Joubert Syndrome With Ocular Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Dextrocardia, Hydrocephalus, Hand polydactyly, ... |
ORPHA:220493 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Lambert Syndrome |
|
Branchial anomaly, Ventricular septal defect, Hypospadias |
ORPHA:1296 |
| Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Absent gallbladder, Abnormal pinna morph... |
OMIM:184705 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
| Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Dilatation of the ventricular cavity, Hip dislocation, Bronchiectasis,... |
ORPHA:90348 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:263520 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Hypospadias, Nephroblastoma, Cryptorchidi... |
OMIM:257300 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Multicystic kidney dysplasia, Micromelia, Pancreatic cysts, Clubbing of... |
ORPHA:1318 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Thrombocytopenia, Hyposegmentation of neut... |
OMIM:169400 |
| Amme Complex |
|
Hematuria |
OMIM:300194 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections... |
OMIM:619769 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated crea... |
OMIM:251900 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Thickened helices, Patent ductus arteriosus, Microsp... |
OMIM:608328 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
| Sickle Cell Disease |
|
Hematuria, Renal insufficiency |
OMIM:603903 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Protruding ear, Chylothorax, Leukemia, Atrial septal defect, Microphthalmia, Pleura... |
ORPHA:2526 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Aqueductal stenosis, Humeroradial synostosis, Forearm un... |
OMIM:251230 |
| Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Accessory spleen, S... |
OMIM:268300 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Pyloric stenosis, Intestinal pseudo-obstruction, Intestinal... |
OMIM:300048 |
| Fanconi Anemia, Complementation Group R |
|
Radial dysplasia, Absent thumb, Hydrocephalus, Bone marrow hypocellularity, Microphthalmia, Pelvi... |
OMIM:617244 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Microphthalmia, Broad thumb, Brachydactyly |
OMIM:614526 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Hypospadias, Microcephaly, Cryptorchidism, Small hand, Short pa... |
ORPHA:1786 |
| Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Cryptorchidism, Ulnar bowing, Shortening of all distal phalanges of the f... |
OMIM:619135 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hepatomegaly,... |
OMIM:203800 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Elevated amniotic fluid alpha-fetoprotein, Chordee, Renal dyspl... |
ORPHA:96179 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Steatorrhea |
OMIM:557000 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Synophrys, Protein-losing enteropathy |
OMIM:618154 |
| Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
| Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly |
ORPHA:3449 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Hearing impairment, Pectus excavatum, Genu varum, Hip dislocation, Deep palmar crease... |
OMIM:619451 |
| Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
| Johnson Neuroectodermal Syndrome |
|
Preaxial hand polydactyly, Protruding ear, Hand polydactyly, Microtia, Atresia of the external au... |
ORPHA:2316 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula |
OMIM:612350 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Microcephaly, ... |
ORPHA:1865 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Cerebrocostomandibular Syndrome |
|
Short humerus, Atrial septal defect, Congenital hip dislocation, Calcaneal epiphyseal stippling, ... |
OMIM:117650 |
| Degcags Syndrome |
|
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent fora... |
OMIM:619488 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Decreased response to growth hormone stimulation test, Decreased circul... |
OMIM:241410 |
| Moderate Hemophilia A |
|
Hematuria |
ORPHA:169805 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism, Camptodactyly of finger |
ORPHA:48431 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Downturned corners of mouth, Wide m... |
ORPHA:2107 |
| Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Mixed hearing impairment, Ventricular septal defect, Bilateral cryptorchidism, Pectus excavatum, ... |
OMIM:300472 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polyd... |
OMIM:615503 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Posteriorly rotated ears, Hypospadias, Short hallux, Supernume... |
ORPHA:3224 |
| Bohring-Opitz Syndrome |
|
Syndactyly, Bilateral cleft palate, Overlapping toe, Ulnar deviation of the wrist, Intestinal mal... |
OMIM:605039 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
| Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec... |
ORPHA:31826 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Tapered finger, Hypothyroidism, Patent ductus arterio... |
OMIM:620005 |
| Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Incr... |
ORPHA:79276 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypospadias, Supernumerary nipple, Patent ductus arteriosus, 2-3 toe s... |
OMIM:106260 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Isosexual precocious puberty, Metaphyseal widening, Abnormal femoral neck/he... |
ORPHA:2788 |
| Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Supernumerary nipple... |
OMIM:613884 |
| Immunoglobulin A Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:761 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Abnormal shoulder morphology, ... |
ORPHA:2345 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Posteriorly rotated ears, Tetralogy of Fa... |
ORPHA:1780 |
| Frontorhiny |
|
Low-set, posteriorly rotated ears, Encephalocele, Diabetes insipidus, Camptodactyly of finger, Fi... |
ORPHA:391474 |
| Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Patent ... |
OMIM:613680 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
| Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Intracranial hemorrhage, Increased hema... |
ORPHA:284227 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Larsen Syndrome |
|
Atrial septal defect, Short metacarpal, Ventricular septal defect, Spatulate thumbs, Hearing impa... |
OMIM:150250 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis, Multiple unerupted teeth... |
ORPHA:2063 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Low-set, posteriorly rotated ears, Camptodactyly of finger, Finger clinodactyly, Pectoral muscle ... |
ORPHA:306542 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Myoglobinuria, Elevated circulating creatine ki... |
OMIM:609015 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Postaxial hand ... |
OMIM:235255 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Atrial septal defect, Ventricular septal defect, Ectopic kidney, Pectus excava... |
ORPHA:1519 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Microphthalmia, Hydrocephalus |
OMIM:613153 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Abnormal pinna morphology, Hydrocephalus, Talipes equinovarus, Slender... |
OMIM:147800 |
| 19P13.3 Microduplication Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Unilateral cryptorchidism, Precocious pubert... |
ORPHA:447980 |
| Schinzel-Giedion Syndrome |
|
Renal cyst, Tibial bowing, Myeloid leukemia, Micropenis, Streak ovary, Hypospadias, Abnormal coch... |
ORPHA:798 |
| Congenital Myopathy 17 |
|
Overlapping toe, Tapered finger, Respiratory tract infection, Clinodactyly, Renal hypoplasia, Cle... |
OMIM:618975 |
| Acute Promyelocytic Leukemia |
|
Hematuria |
ORPHA:520 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Hyperuricemia, Uric acid nephrol... |
OMIM:300661 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... |
ORPHA:79473 |
| Renal Hypodysplasia/Aplasia 4 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Lamellar Ichthyosis |
|
Renal insufficiency |
ORPHA:313 |
| Sotos Syndrome |
|
Atrial septal defect, Posteriorly rotated ears, Ventricular septal defect, Abnormality of the kid... |
OMIM:117550 |
| Renal Hypodysplasia/Aplasia 2 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:615721 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Splenomegal... |
ORPHA:354 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Pectus excavatum, Cupped ear, Microtia, Low-set ears, Overfolded helix |
OMIM:609654 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Hepatomegaly |
OMIM:601539 |
| Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r... |
OMIM:218400 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... |
OMIM:603554 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Asplenia, Cryptorchidism, Protruding ear, Abdominal situs inversus, Pu... |
OMIM:619123 |
| Cooper-Jabs Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Camptodactyly of finger, Proximal p... |
ORPHA:1488 |
| Knobloch Syndrome |
|
Occipital encephalocele, Dextrocardia, Patent ductus arteriosus, Hydrocephalus, Vesicoureteral re... |
ORPHA:1571 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... |
OMIM:619743 |
| Short Stature-Micrognathia Syndrome |
|
Penoscrotal hypospadias, Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, C... |
OMIM:617164 |
| Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Macroscopic hematuria |
ORPHA:274 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
| Meningococcal Meningitis |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
| Familial Visceral Myopathy |
|
Hydroureter, Arachnodactyly, Camptodactyly of finger, Aganglionic megacolon, Microcephaly, Megacy... |
ORPHA:2604 |
| Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy |
ORPHA:567983 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Rocker bottom foot, Microphthalmia, Micropenis, Hearing impairment |
OMIM:610756 |
| Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal finger morphology, Abnormal lung lobation, Renal cyst, Clinodact... |
ORPHA:744 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias, Abnormal hip bone morphology, Microcephaly |
ORPHA:2522 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease |
OMIM:618821 |
| Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... |
ORPHA:423 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent urinary tract infections, Dilatation of the ventr... |
ORPHA:90349 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Microcephaly, Cryptorchidism, Shor... |
OMIM:224410 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ... |
ORPHA:1553 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Sensorineural hearing impairme... |
ORPHA:2315 |
| Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Abnormal pinna morphology, Ventricular septal defect, Pectus excavatum, Patent ductus arteriosus,... |
ORPHA:52055 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Sensorineural hearing impairment, Hy... |
OMIM:619575 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Single transverse palmar crease, Abnormal medullary pyramid morphology... |
ORPHA:79243 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
| Hajdu-Cheney Syndrome |
|
Recurrent respiratory infections, Bowing of the long bones, Coarse metaphyseal trabecularization,... |
ORPHA:955 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Esophageal carcinoma, Abnormal intestine morphology, Enterocolitis |
ORPHA:391487 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal bladder morphology, Cryptorchidism, Ve... |
ORPHA:453499 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Postax... |
ORPHA:2519 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular aortic stenosis |
ORPHA:1338 |
| Kbg Syndrome |
|
Single transverse palmar crease, Cryptorchidism, Congenital malformation of the left heart, Cutan... |
ORPHA:2332 |
| Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Microphthalmia,... |
OMIM:153400 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia, Short thumb, Bone marrow hypocellularity |
OMIM:609054 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, External ear malformation, ... |
ORPHA:912 |
| Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction |
ORPHA:160 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Posteriorly rotated ears, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral... |
OMIM:607597 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect, Brachydactyly |
OMIM:619995 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethra... |
OMIM:100100 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Splenomegaly, Hemoglobinuria, Increased circulating ferritin concentration, Hepatomegaly |
OMIM:194380 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Hearing impairment |
OMIM:616277 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar... |
OMIM:618727 |
| Atelosteogenesis Type Ii |
|
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... |
ORPHA:56304 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... |
OMIM:170390 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Split foot, Cryptorchidism |
OMIM:601349 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
| Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Uplifted earlobe, Asplenia, Calcaneovalgus deformity... |
ORPHA:2152 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Posteriorly rotated ears, Ventricular septal defect, Hypospadias, Coxa valga, Tapered finger, Cry... |
OMIM:301040 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Bowing of the long bones, Abnormal pulmonary valve morphology, ... |
ORPHA:667 |
| Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Aplastic clavicle, Aplasia/Hypoplasia of th... |
ORPHA:3474 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Malar flattening, Gingival overgrowth, Micrognathia |
OMIM:614592 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Broad hallux, Single transverse palmar crease, Methylmalo... |
OMIM:614105 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Hypoalbuminemia |
OMIM:610965 |
| Loeys-Dietz Syndrome 5 |
|
Atrial septal defect, Scapular winging, Arachnodactyly, Ventricular septal defect, Pectus excavat... |
OMIM:615582 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... |
ORPHA:31824 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Boutonneuse Fever |
|
Renal insufficiency |
ORPHA:83313 |
| Scrub Typhus |
|
Splenomegaly, Renal insufficiency |
ORPHA:83317 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation,... |
OMIM:614080 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi... |
ORPHA:85166 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Abnormality of the ki... |
OMIM:123450 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microphthalmia, Dilated cardiomyopathy, Microcytic anemia |
OMIM:618805 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... |
OMIM:251300 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Venous insufficiency, Splenomegaly, Abnormality ... |
ORPHA:2969 |
| Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Splenomegaly, Su... |
ORPHA:90324 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Hydrocephalus, Microtia, Conotruncal defect |
OMIM:243440 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Oligodontia, Hypodontia |
OMIM:601345 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb... |
ORPHA:247353 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Pectus excavatum, Fusiform... |
OMIM:617168 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Protruding ear, Atrial septal defect, Tapered finger, Short thumb, S... |
OMIM:613458 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Ventricular septal defect, Camptodactyly ... |
ORPHA:3138 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Perianal dermatitis, Cleft palate... |
OMIM:619573 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Single transverse palmar crease, Atrial septal defect, Severe sensorineural heari... |
OMIM:620186 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Delayed eruption of primary teeth, Persistence of primary teeth, Hypopl... |
ORPHA:763 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... |
ORPHA:958 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Decreased serum testosterone concentration, ... |
OMIM:305400 |
| Mgat2-Cdg |
|
Low-set, posteriorly rotated ears, Impaired lymphocyte transformation with phytohemagglutinin, Po... |
ORPHA:79329 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Scapular winging, Mixed hearing impairment, Down-sloping shoulders, Tapered finger, Cupped ear, R... |
OMIM:615560 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... |
OMIM:602200 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Abnormality of the ureter, P... |
ORPHA:3253 |
| Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
| Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Hepatomegaly, Renal insufficiency, Splenomegaly |
OMIM:251290 |
| Hypomelanosis Of Ito |
|
Syndactyly, Microcephaly, Hand polydactyly, Radial deviation of finger, Clinodactyly |
OMIM:300337 |
| Opitz Gbbb Syndrome |
|
Enlarged ovaries, Posteriorly rotated ears, Ventricular septal defect, Hypospadias, Patent forame... |
ORPHA:2745 |
| Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Elevated circula... |
ORPHA:90291 |
| Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Encephalocele, Microtia, Ventricular septal defect |
ORPHA:398156 |
| Toriello-Carey Syndrome |
|
Abnormal pinna morphology, Hearing impairment, Cryptorchidism, Patent ductus arteriosus, Coarctat... |
ORPHA:3338 |
| Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ... |
OMIM:190350 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Proximal femoral metaphyseal irregularity, Early ossification of capital... |
ORPHA:397715 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... |
ORPHA:29073 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconju... |
OMIM:300908 |
| 7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Single transverse palmar crease, He... |
ORPHA:96121 |
| 3Mc Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Single interphalangeal crease of fifth finger, H... |
OMIM:257920 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Congenital pulm... |
ORPHA:436252 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Abnormal renal tubule morphology |
ORPHA:440713 |
| Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Nephropathy, Abn... |
ORPHA:324 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Advanced eruption of teeth, High palate |
OMIM:262190 |
| Frontometaphyseal Dysplasia |
|
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... |
ORPHA:1826 |
| Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Pyuria |
ORPHA:536 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Chordee, Proteinuria |
OMIM:300519 |
| Alveolar Echinococcosis |
|
Abnormal pelvis bone morphology, Pulmonary cyst, Abnormal pericardium morphology, Eosinophilia, H... |
ORPHA:284 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Precocious puberty, Cardiac rhabdomyoma, Renal... |
OMIM:613254 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome |
ORPHA:139402 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum |
ORPHA:3214 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia, Micropenis |
OMIM:308350 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Hypospadias, Microcephaly, Cleft palate |
ORPHA:66629 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Cryptorchidism, Protruding ear, Abnorm... |
ORPHA:2115 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Camptodactyly of finger, Dextrocardia, Aplasia/Hypoplastia of ... |
ORPHA:1662 |
| Osteoglosphonic Dysplasia |
|
Tooth agenesis, Multiple unerupted teeth, Micrognathia |
ORPHA:2645 |
| Snakebite Envenomation |
|
Hyponatremia, Acute kidney injury |
ORPHA:449285 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Long fingers, Cryptorchidism,... |
ORPHA:401973 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Hypoplastic iliac wing, Micropenis, Patent foramen oval... |
OMIM:263650 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Supernumerary nipple, Pectus excavatum, Cryp... |
OMIM:615102 |
| Acquired Von Willebrand Syndrome |
|
Hematuria |
ORPHA:99147 |
| Severe Hemophilia A |
|
Macroscopic hematuria |
ORPHA:169802 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Cardiac rhabdomyoma, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Rena... |
OMIM:191100 |
| Chromosome 17Q12 Deletion Syndrome |
|
Long toe, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infect... |
OMIM:614527 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Cryptorchidism, Mitra... |
ORPHA:444072 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... |
ORPHA:534 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... |
OMIM:610978 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Trisomy 10P |
|
Thumb contracture, Absent gallbladder, Posteriorly rotated ears, Abnormality of the kidney, Abnor... |
ORPHA:171929 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Aminoaciduria, High palate, Umbilical hernia |
OMIM:614520 |
| Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Triphalangeal thumb, Neutropenia, Atrial septal defect, Spina bifida occulta, ... |
OMIM:105650 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Congenital Factor X Deficiency |
|
Hematuria |
ORPHA:328 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Abnormal pinna morphology, Postaxial polydactyly, Epiphyseal stippling, Abnormal pelv... |
OMIM:302960 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Asymmetry of the ears, Cryptorchidism, Microphthalmia, Micropenis, Macrotia, Cli... |
OMIM:614225 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Short hallux, Coxa valg... |
ORPHA:1517 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Hypersplenism, Splenomegaly, Pulmonic stenosis, Right ventricular hype... |
OMIM:616028 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Pectus excavatum, Abnormal diaphysis morphology, Cl... |
ORPHA:1515 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Glomerulopathy, Microcephaly, Hemolytic-uremic syndrome, Hydrocephalus, Intrauterine ... |
ORPHA:2169 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Short ... |
OMIM:263750 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, L... |
OMIM:614230 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Polydactyly, Low-set ears... |
ORPHA:313781 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Conductive hearing impairment, Micropenis, Recurrent... |
OMIM:612289 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Patent ductus art... |
ORPHA:1112 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... |
ORPHA:192 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... |
ORPHA:3329 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter, Intestinal ... |
ORPHA:2241 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Cupped ear, Low-set ears |
OMIM:167730 |
| Orofaciodigital Syndrome Type 1 |
|
Finger syndactyly, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Tarsal synosto... |
ORPHA:2750 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Abnormal circulating ren... |
ORPHA:369929 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
| Vitreoretinochoroidopathy |
|
Microphthalmia, Retinal arteriolar constriction, Retinal arteriolar occlusion |
OMIM:193220 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hydrocephalus, Hand polydactyly, Arteriovenous malformation, F... |
ORPHA:60040 |
| Curry-Jones Syndrome |
|
Anal stenosis, Occipital meningocele, Intestinal pseudo-obstruction, Duplication of thumb phalanx... |
OMIM:601707 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Hennekam Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Camptodactyly of finger, Ectopic kidney, Ext... |
ORPHA:2136 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
| Mucoepithelial Dysplasia, Hereditary |
|
Hematuria |
OMIM:158310 |
| Autoerythrocyte Sensitization Syndrome |
|
Hematuria |
ORPHA:324636 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Recurrent upper respiratory tract infections, Cupped ea... |
ORPHA:2399 |
| Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Renal agenesis, Renal hypop... |
ORPHA:2754 |
| Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Eruption failure, Hypodontia, Narrow mouth, Smoo... |
OMIM:619322 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
| Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Overlapping toe, Posteriorly rotated ears, Short thumb, Cryptorchidi... |
OMIM:300895 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Hydrocephalus, Cardiomyopathy, Microphthalmia |
ORPHA:370959 |
| Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hyperextensibility of the finger joints, Posteriorly rotated ears, Hearing ... |
OMIM:135500 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Ventricular septal defect |
OMIM:616816 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Atrial septal defect, ... |
OMIM:194050 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Short toe, Hydrocephalus, Abnormal lung lobation,... |
OMIM:617667 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Renal hypoplasia/aplasia, Hypoplasia of... |
ORPHA:3015 |
| Mohr Syndrome |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Hydrocephalus, Flared metaphys... |
OMIM:252100 |
| Filippi Syndrome |
|
Finger syndactyly, Enlarged epiphyses, Ventricular septal defect, Supernumerary nipple, Cryptorch... |
ORPHA:3255 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Aplasia/Hypoplasia of the middl... |
OMIM:151050 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Polycystic ovaries, Abnormal circulating lipid c... |
ORPHA:79086 |
| Severe Congenital Nemaline Myopathy |
|
Hypospadias, Pulmonary hypoplasia, Dysphagia, Micropenis, Adducted thumb |
ORPHA:171430 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Upper limb undergrowth |
OMIM:613124 |
| Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
ORPHA:2563 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Single transverse palmar crease, Supernumerary nipple, 2-3 toe syndactyly, Protruding ear, Joint ... |
OMIM:620098 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Abnormal pinna morphology, Hearing impairment |
OMIM:614583 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
| 46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Hypoplastic left heart, Increased serum... |
OMIM:618901 |
| Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury |
ORPHA:90068 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
| Nance-Horan Syndrome |
|
Microphthalmia, Short metacarpal, Protruding ear |
ORPHA:627 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Cryptorchidism, Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect |
ORPHA:452 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Hydrocephalus, Flar... |
OMIM:187600 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... |
ORPHA:91500 |
| Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
| Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Pectus excavatum, Vertebral artery tortuosity, Celiac artery dissecti... |
OMIM:619329 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
| Kabuki Syndrome 1 |
|
Congenital hip dislocation, Premature thelarche, Protruding ear, Atrial septal defect, Prominent ... |
OMIM:147920 |
| Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder, Abnormal pinna morphology, Conductive hearing impairmen... |
OMIM:164200 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:607155 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96263 |
| Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:2318 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Everted lower lip vermilion, Widely spaced teeth, Advanced eruption ... |
OMIM:617865 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Arachnodactyly, Hypospadias, Rocker bottom foot, Down-sloping shoulders, Cryptorchidi... |
OMIM:265000 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Proximal placement of thumb, Preaxial hand polyd... |
OMIM:610536 |
| Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria |
ORPHA:220393 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis |
ORPHA:900 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Low-set, posteriorly rotated ears, Hypospadias, External ear malformation, Cryptorchidism, Upper ... |
ORPHA:2505 |
| Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Nephropathy |
ORPHA:1454 |
| Monosomy 9Q22.3 |
|
Ovarian fibroma, Nephroblastoma, Palmar pits, Pectus excavatum, Hydrocephalus, Cardiac fibroma, U... |
ORPHA:77301 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Left ventricular hypertrophy, Hydron... |
OMIM:611209 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula, Lymphangioma |
OMIM:149000 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Low-set ears, Ab... |
ORPHA:284160 |
| Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:220497 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Abnormal renal morph... |
ORPHA:59315 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Hypospadias, Renal hypoplasia, Absence of pubertal development, Abnormal heart morpho... |
ORPHA:314679 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia |
OMIM:618885 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Raine Syndrome |
|
Bowing of the long bones, Hydroureter, Micromelia, Microcephaly, Protruding tongue, Hydrocephalus... |
OMIM:259775 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Aspiration pneumonia, Vesicoureteral reflu... |
ORPHA:444077 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse palmar crease, Abn... |
OMIM:244450 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Absent thumb, Absent radius, Hydrocephalus, Renal hypoplasia, Anotia, ... |
OMIM:614083 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ... |
ORPHA:2780 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Hypospadias, Erythroid hypoplasia, Reticulocytopeni... |
OMIM:612528 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Ventricular septal defect, Sensorineural hearing impairment, Abnor... |
OMIM:214300 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, V... |
ORPHA:209905 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Congenital hip dislocation, Intestinal malrotation, Re... |
OMIM:258040 |
| Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Microspherophakia, Broad palm, Pulmonic sten... |
OMIM:277600 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Unilateral... |
ORPHA:261337 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure... |
ORPHA:3339 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i... |
OMIM:151210 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, Mitral valve... |
OMIM:175050 |
| Fanconi Anemia, Complementation Group S |
|
Proximal placement of thumb, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia, Clinodactyly, A... |
OMIM:617883 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Bronchiectasis, Acute lymphoblastic leukemia, T lymphocyt... |
OMIM:208900 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting... |
ORPHA:95409 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
OMIM:616878 |
| Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomegaly, Dilated ca... |
OMIM:614921 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Microcephaly |
OMIM:619091 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
| Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Nephrolithiasis |
ORPHA:774 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Pectus excavatum of inferior ... |
OMIM:163950 |
| Immunodeficiency 9 |
|
Hypoplasia of the thymus |
OMIM:612782 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:264580 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Coxa vara, High palate, Wrist flexion contracture, Umbilical hernia, Abnormal metaphy... |
ORPHA:800 |
| Coffin-Siris Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Recurrent upper... |
ORPHA:1465 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, High, narrow palate, Cryptorchidism, H... |
ORPHA:96182 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Atrial septal defect, Recurrent respiratory infections, Posteriorly rotated e... |
ORPHA:3047 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Glomerulonephritis, Elevated circulating... |
ORPHA:36234 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Microphthalmia |
ORPHA:1915 |
| Mercury Poisoning |
|
Hypokalemia, Acute kidney injury |
ORPHA:330021 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
| Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Camptodactyly of finger, Cryptorchidism, Cleft palate, Pulmonary hypoplasi... |
ORPHA:994 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, C... |
OMIM:620024 |
| Acrocallosal Syndrome |
|
High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Finger syndactyly, Hypospad... |
OMIM:200990 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Overlapping toe, Short hallux, Long fingers, Wide anterior font... |
ORPHA:3309 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Atrial septal defect, Conductive he... |
ORPHA:199 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne... |
OMIM:615777 |
| Relapsing Polychondritis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:728 |
| Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Hydrocephalus, Bilateral renal hypoplasia, Preaxial pol... |
OMIM:243605 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Prominent superficial veins, Sensorineural hearing impairment, Elevated circulatin... |
OMIM:601812 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
| 16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Crypt... |
ORPHA:261236 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease |
OMIM:619381 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis, Intestinal malrotation |
OMIM:249210 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Renal hypoplasia/aplasia, Aqueductal stenosis, Hand oligodactyly, Fibular hypo... |
ORPHA:1788 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Pectus excavatum, Unilateral microphthalmos, Mitral valve prolapse, Macroorchidism, ... |
OMIM:618874 |
| Scalp-Ear-Nipple Syndrome |
|
Underdeveloped antitragus, Anteverted ears, Protruding ear, Clinodactyly of the 5th finger, Small... |
OMIM:181270 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypoplasia of penis, Anophthalmia, Cryptorchidism, Hypogonadism, Microphthalmia |
ORPHA:2250 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Posteriorly rotated ears, Talipes equinovarus, Low-set ears, Patent fo... |
OMIM:614961 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Macrotia, Ventricular septal defect |
OMIM:234050 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Posteriorly rotated ears, Hypospadias, Uplifted earlobe, Tapered finger, Pectus excavatum, Long f... |
OMIM:616734 |
| Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... |
ORPHA:3282 |
| Pachyonychia Congenita |
|
Advanced eruption of teeth, Natal tooth, Angular cheilitis, Oral leukoplakia |
ORPHA:2309 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hemoly... |
ORPHA:79282 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Arboleda-Tham Syndrome |
|
Anteverted ears, Secundum atrial septal defect, Bilateral cryptorchidism, Atrial septal defect, S... |
OMIM:616268 |
| Basal Cell Nevus Syndrome 1 |
|
Ovarian fibroma, Down-sloping shoulders, Spina bifida, Palmar pits, Hydrocephalus, Irregular ossi... |
OMIM:109400 |
| Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Vesicoureteral reflux, Atrial septal defect, U... |
OMIM:615879 |
| Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Open mouth |
ORPHA:950 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
| Warburg Micro Syndrome 3 |
|
Clinodactyly of the 5th finger, Microphthalmia, Micropenis, Macrotia, Decreased testicular size |
OMIM:614222 |
| Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Aspiration pneumonia, Atrial... |
OMIM:602535 |
| Trisomy 9P |
|
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth |
ORPHA:236 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Cryptorchidism, Hypogonadism, Low-set ears, Microphthalmia |
ORPHA:228390 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Proteinuria, Abnormal circulating fat... |
ORPHA:2298 |
| Lujo Hemorrhagic Fever |
|
Renal insufficiency, Microscopic hematuria, Oliguria |
ORPHA:319213 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cleft palate, Hypoplasia of t... |
OMIM:607812 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Posteriorly rotated ears, Atresia of the external auditory canal, Hear... |
OMIM:301018 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Posteriorly rotated ears, Pectus excavatum, Long fingers, Hypoplastic nipples, Low-set ears, Micr... |
OMIM:156610 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pectus excavatum, Pulmonic stenosis, Atrial septal defect, Hypertrophi... |
OMIM:615279 |
| Oculodentodigital Dysplasia |
|
Finger syndactyly, Neurogenic bladder, Toe syndactyly, Ventricular septal defect, Camptodactyly o... |
ORPHA:2710 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Broad hallux, Ventricular septal defect, Cryptorchidism, Small hand, T... |
ORPHA:251028 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cryptorchidism, Abnormal localization of ... |
ORPHA:2510 |
| Tetraamelia Syndrome 1 |
|
Renal agenesis, Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Urethral atresia, P... |
OMIM:273395 |
| Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
| D-Bifunctional Protein Deficiency |
|
Pectus excavatum, Splenomegaly, Split hand, Primary adrenal insufficiency, Renal cyst, Hammertoe,... |
OMIM:261515 |
| Joubert Syndrome 1 |
|
Postaxial hand polydactyly, Renal cyst, Occipital myelomeningocele, Postaxial foot polydactyly, L... |
OMIM:213300 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Micrognathia, Non-mi... |
ORPHA:1071 |
| Hughes-Stovin Syndrome |
|
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis |
ORPHA:228116 |
| Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney |
ORPHA:1764 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Polydac... |
OMIM:619869 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Persistence of primary teeth |
OMIM:619752 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, ... |
ORPHA:1512 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Posteriorly rotated ears, Low-set ears |
OMIM:613456 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Barrel-shaped chest, Hip contracture, Posteriorly rotated ears, Tarsal synostosis, Ventricular se... |
OMIM:178110 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Sensorineural hearing impairment, Coarctation of aorta... |
OMIM:618748 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation, Bilateral sensorineural hearing impairment |
OMIM:619083 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Intraventricular hemorrhage, Sensorineural hearing impairment, Low-set ears, Aspirati... |
OMIM:616430 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... |
OMIM:615631 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Conductive hearing impairment, Thi... |
OMIM:607872 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Ventricular septal defect, Bronchiectasis, Peripheral pulmonary artery stenosis |
OMIM:123700 |
| Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Abnormality of the ureter, Aminoacidu... |
ORPHA:30 |
| Diets-Jongmans Syndrome |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Heterotaxy, Interrupted inferior vena cav... |
OMIM:618846 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Op... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Postaxial polydactyly, Op... |
ORPHA:352665 |
| Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hemoglobinuria, H... |
OMIM:611881 |
| Greenberg Dysplasia |
|
Micromelia, Abnormal lung lobation, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death,... |
OMIM:215140 |
| Esophageal Atresia |
|
Recurrent respiratory infections, Ventricular septal defect, Renal agenesis, Bronchitis, Maternal... |
ORPHA:1199 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Dilation of Virchow-Robin spaces, Optic nerve hypoplasia, Cryptorchidi... |
OMIM:603671 |
| Pearson Syndrome |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hypomagnesemia, Splenomegaly, Lacticaciduria, Ren... |
ORPHA:699 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Scapular winging, Short metacarpal, Bowed humerus, Tarsa... |
OMIM:272460 |
| Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hypermagnesemia, ... |
ORPHA:358 |
| Familial Mediterranean Fever |
|
Proteinuria, Splenomegaly, Nephrocalcinosis, Nephrotic syndrome, Nephropathy |
ORPHA:342 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H... |
OMIM:101600 |
| Pachyonychia Congenita 2 |
|
Oral leukoplakia, Natal tooth, Angular cheilitis |
OMIM:167210 |
| Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre... |
ORPHA:101330 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Renal... |
ORPHA:1297 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... |
ORPHA:99094 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Short philtrum, Cleft palate |
OMIM:617337 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha... |
OMIM:617914 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Posteriorly rotated ears, Ventricular septal defect, Overfolded helix, Low-set ears, Camptodactyl... |
OMIM:617360 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Achondrogenesis Type 2 |
|
Micromelia, Hypoplastic ilia, Delayed proximal femoral epiphyseal ossification, Short long bone, ... |
ORPHA:93296 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Posteriorly rotated ears, Tapered finger, Ventricular septal de... |
OMIM:301044 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Amegakaryocytic thrombocytopenia, Radial bowing, Apl... |
OMIM:605432 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma... |
ORPHA:2751 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent... |
OMIM:224300 |
| Postaxial Acrofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi... |
ORPHA:246 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Tooth agenesis, Supernumerary tooth, Abnormal dental morphology |
ORPHA:3353 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Pyloric stenosis |
OMIM:226700 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Exaggerated cupid's bow, Narrow mouth, Abnormal mandible morphology, Cleft palate, Downturned cor... |
ORPHA:2215 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus, Hypogonadism, Cryptorchidism |
OMIM:601794 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia, Syndactyly |
ORPHA:1942 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Horse... |
OMIM:619103 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ... |
OMIM:143095 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Camptodactyly, Joint contracture... |
OMIM:603543 |
| Lateral Meningocele Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Abnormality of the middle ear ossicles, Pect... |
ORPHA:2789 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Single transverse palmar crease, Urinary incontinence, Atrial septal defect, ... |
OMIM:619522 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Chronic kidney disease, Renal tubular dysfunction, Tubul... |
ORPHA:330015 |
| Noonan Syndrome 3 |
|
Atrial septal defect, Juvenile myelomonocytic leukemia, Posteriorly rotated ears, Ventricular sep... |
OMIM:609942 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... |
ORPHA:37553 |
| Coffin-Siris Syndrome 12 |
|
Protruding ear, Hypothyroidism, Patent foramen ovale, Simple ear, Hypospadias, Short thumb, Crypt... |
OMIM:619325 |
| Trichohepatoneurodevelopmental Syndrome |
|
Overlapping toe, Ventricular septal defect, Pectus excavatum, Splenomegaly, Patent ductus arterio... |
OMIM:618268 |
| Pyomyositis |
|
Renal insufficiency |
ORPHA:764 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Microcephaly, Cleft palate, ... |
OMIM:616038 |
| Camptobrachydactyly |
|
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... |
OMIM:114150 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Posteriorly rotated ears, Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe... |
OMIM:608670 |
| Renal Agenesis, Bilateral |
|
Renal agenesis, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morpholo... |
ORPHA:1848 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... |
ORPHA:99095 |
| Avian Influenza |
|
Acute kidney injury, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevate... |
ORPHA:454836 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia |
ORPHA:2050 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Bicuspid aortic valve, Single transverse palmar crease, Cerebral arteriovenous malformation, Bila... |
OMIM:150230 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Syndactyly, Diabetes mellitus, Abnormality of the kidney, Postaxial po... |
OMIM:209900 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement... |
OMIM:261540 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Short metatarsal, Palmoplantar hyper... |
OMIM:216340 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B ly... |
OMIM:102700 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Optic nerve hypoplasia, Proximal placement of thumb, Cryptorchidism, D... |
ORPHA:261250 |
| Q Fever |
|
Hematuria |
ORPHA:781 |
| Short Syndrome |
|
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Hypodo... |
OMIM:269880 |
| Postinfectious Vasculitis |
|
Hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis |
ORPHA:48435 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Bilateral cr... |
OMIM:613457 |
| King-Denborough Syndrome |
|
Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect, Low-set ears |
OMIM:619542 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Rocker bottom foot, Wide anterior fontanel, Submucous cleft ha... |
OMIM:275210 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus trac... |
OMIM:600145 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi... |
OMIM:618775 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia, Hypogonadotropic hypogonadism |
ORPHA:1135 |
| Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Protruding ear, Peripheral arteriovenous fistula, Hypospadias, Crypto... |
ORPHA:286 |
| Joubert Syndrome 33 |
|
Splenomegaly, Syndactyly |
OMIM:617767 |
| Codas Syndrome |
|
Short humerus, Short metacarpal, Metaphyseal dysplasia, Congenital hip dislocation, Atrial septal... |
OMIM:600373 |
| Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Hearing impairment, Tapered finger, Precocious puberty, Large earlobe,... |
OMIM:619312 |
| Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Cryptorchidism, Short... |
OMIM:616202 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia, Low-set ears, Microcytic anemia |
OMIM:612379 |
| 1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Pulmonary hypoplasia, Talipes equinova... |
ORPHA:250999 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
| Costello Syndrome |
|
Low-set, posteriorly rotated ears, Ventricular septal defect, Cryptorchidism, Ulnar deviation of ... |
ORPHA:3071 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor... |
OMIM:615866 |
| Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Ectopic kidney, Prominent interphalangeal joints, Atrial septal ... |
OMIM:135900 |
| Rift Valley Fever |
|
Hematuria |
ORPHA:319251 |
| Monosomy 22 |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Aplasia of the thymus, Single transverse pa... |
ORPHA:96123 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Congenital sensorineural hearing impairment, Microphthalmia, Post... |
OMIM:617306 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly, Spina bifida occulta |
ORPHA:1514 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia, Dysphagia |
OMIM:616867 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Micropenis, Proteinuria |
OMIM:619471 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Achondroplasia |
|
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Hydrocep... |
OMIM:100800 |
| Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Complete atrioventricular canal defect, Recurrent pneumonia, Primum atrial septal d... |
ORPHA:1329 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy |
ORPHA:79319 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... |
OMIM:615550 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... |
OMIM:619229 |
| Lacrimoauriculodentodigital Syndrome |
|
Conductive hearing impairment, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnorma... |
ORPHA:2363 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
| Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Natal tooth, Eclabion |
OMIM:616395 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Protruding ear |
OMIM:152950 |
| Melas |
|
Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis |
ORPHA:550 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Interstitial emphysema, Bronchiectasis, Dilatation of the renal pelvis, Inflammation of the large... |
OMIM:619708 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormality of the elbow, Hip dislocation, ... |
ORPHA:1005 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Veloph... |
OMIM:209885 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
| Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency |
OMIM:203300 |
| Orofaciodigital Syndrome Type 4 |
|
Micromelia, High, narrow palate, Aplasia/Hypoplasia of the tibia, Bifid uvula, Genu varum, Finger... |
ORPHA:2753 |
| Distal Deletion 10Q |
|
Patent ductus arteriosus, Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesi... |
ORPHA:96148 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Underfolded helix, Abnormal pinna morphol... |
ORPHA:178303 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ulnar deviation of the hand, Rocker bottom foot, Camptodactyly of finger, High, ... |
OMIM:208150 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Hearing impairm... |
ORPHA:794 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Micrognathia |
OMIM:617802 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia |
ORPHA:73272 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Enamel hypoplasia, Carious teeth |
OMIM:277440 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Renal insufficiency |
OMIM:226980 |
| Vesicoureteral Reflux 3 |
|
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... |
OMIM:613674 |
| Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Uplifted earl... |
OMIM:613406 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia |
ORPHA:2484 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:612462 |
| Distal Deletion 19P |
|
Long toe, Low-set, posteriorly rotated ears, Arachnodactyly, Ventricular septal defect, Sensorine... |
ORPHA:96129 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr... |
OMIM:602450 |
| Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Intestinal malrotation |
ORPHA:2140 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Splenomegaly, Stage 5 ... |
OMIM:222700 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... |
OMIM:225500 |
| Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia |
ORPHA:949 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Sensorineural he... |
OMIM:193300 |
| Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease |
OMIM:208060 |
| Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Neurogenic bladder, Hyperthyroidism, Ventricular septal defect, Decreased response to ... |
ORPHA:488632 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Pulmonary hypoplasia |
OMIM:255320 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, High, narrow palate, Small hand, Spina bifida occulta, Short 4th metacarpal |
ORPHA:1787 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Cryptorchidism, Genu valgum, Microtia, Micropenis, Hydron... |
OMIM:617798 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Prader-Willi Syndrome |
|
Syndactyly, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased response t... |
OMIM:176270 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia, Recurrent respiratory infections, Hearing impairment, Protruding ear |
ORPHA:1806 |
| Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long... |
ORPHA:2067 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Sensorineural hearing impairment, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Posteriorly rotated ears, Ventricular septal defect, Proximal placement of thumb, Coxa valga, Pec... |
OMIM:212066 |
| Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal def... |
OMIM:606170 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Hip dysplasia, Cardiomegaly, Protruding ear |
OMIM:618798 |
| Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, As... |
ORPHA:402075 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Anal atresia, Bilateral cleft lip and palate |
ORPHA:1997 |
| Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Abnormality of the hand, Spina bifida, Pectus excavatum, Crypto... |
OMIM:234100 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin... |
ORPHA:769 |
| Cranioectodermal Dysplasia 4 |
|
Stage 5 chronic kidney disease |
OMIM:614378 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:103580 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Thickened helices, Protruding ear, Holoprosen... |
ORPHA:1587 |
| Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Delayed eruption of permanent teeth, Thin vermilio... |
OMIM:620370 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Abn... |
OMIM:600057 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Optic nerve hypoplasia, Hydrocephalus, Microtia, Low-set ears, Microphthalmia, Add... |
OMIM:614643 |
| Diphallia |
|
Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Rectoperineal... |
ORPHA:227 |
| Hartsfield Syndrome |
|
Syndactyly, Hypospadias, Microcephaly, Alobar holoprosencephaly, Cryptorchidism, Cleft palate, Lo... |
OMIM:615465 |
| Nance-Horan Syndrome |
|
Microphthalmia, Macrotia, Short phalanx of finger, Broad finger |
OMIM:302350 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Microcephaly, Absent thumb, Aplasia/Hypoplasia of the distal p... |
ORPHA:1234 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, La... |
OMIM:271640 |
| 3M Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p... |
ORPHA:2616 |
| Renal Tubular Dysgenesis |
|
Anuria, Microcephaly, Abnormality of the urinary system, Pulmonary hypoplasia, Renotubular dysgen... |
OMIM:267430 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Syndactyly, Clinodactyly |
OMIM:618087 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nippl... |
ORPHA:457279 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Supernumerary nipple, Tapered finger, Large earlobe, Hypoplasia of the e... |
ORPHA:1236 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Cleft palate, Gingivitis, Abnormality of the dentition |
ORPHA:2314 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Warburg Micro Syndrome 4 |
|
Microphthalmia, Micropenis, Decreased testicular size, Cryptorchidism |
OMIM:615663 |
| Kabuki Syndrome 2 |
|
Natal tooth, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palate, High palate, Hypodontia |
OMIM:300867 |
| Okamoto Syndrome |
|
Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormally l... |
ORPHA:2729 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Xerostomia, Ureterocele, Vesicoureteral reflux, Micropenis, Cryptorchidi... |
OMIM:129900 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Broad hallux, Posteriorly rotated ears, Ventricular septal defect, Crypt... |
OMIM:615948 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... |
ORPHA:99885 |
| Costello Syndrome |
|
Barrel-shaped chest, Hyperextensibility of the finger joints, Renal insufficiency, Posteriorly ro... |
OMIM:218040 |
| Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency |
ORPHA:293173 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Protruding ear, Micro... |
ORPHA:268261 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, O... |
ORPHA:468631 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Micromelia, Bowing of the legs, Pro... |
OMIM:200600 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Stage 5 chroni... |
OMIM:249100 |
| Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Abnormality of the tarsal bones, Cryptorchidism, Postax... |
ORPHA:261112 |
| Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis |
ORPHA:60025 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... |
ORPHA:2909 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Hearing impairment, Aplasia/Hypoplasia of the dist... |
ORPHA:1647 |
| Waldenström Macroglobulinemia |
|
Splenomegaly, Hepatomegaly, Renal insufficiency |
ORPHA:33226 |
| Opitz Gbbb Syndrome |
|
Ventricular septal defect, Posteriorly rotated ears, Hypospadias, Rectourethral fistula, Cryptorc... |
OMIM:300000 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism... |
OMIM:615474 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Cryptorchidism, Meningoencephalocele, Hydrocepha... |
OMIM:236670 |
| Dubowitz Syndrome |
|
Syndactyly, Aplastic anemia, Single transverse palmar crease, Hypospadias, Cryptorchidism, Protru... |
OMIM:223370 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A... |
OMIM:135750 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... |
OMIM:181450 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Oliguria, Reve... |
ORPHA:90051 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Microcepha... |
ORPHA:783 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Aplasia of the thymus, Foot polydactyly |
ORPHA:3004 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Megacystis, Pyelonephritis, Fetal megacystis, Pulmonary hypoplasia, Renal ... |
OMIM:619351 |
| Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... |
ORPHA:191 |
| Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
| Blepharonasofacial Malformation Syndrome |
|
External ear malformation, Finger syndactyly, Cryptorchidism, Hearing impairment |
ORPHA:1252 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Renal cyst, Camptodactyly of 2nd-5th... |
OMIM:601803 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Renal neoplasm, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, ... |
ORPHA:536467 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Pneumothorax, Glandular hypospadias, Talipes equinovarus, Pulmonary hypoplasia, Shor... |
OMIM:620306 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Kbg Syndrome |
|
Syndactyly, Posteriorly rotated ears, Single transverse palmar crease, Cryptorchidism, Epispadias... |
OMIM:148050 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Short palm, Congenital hip dislocation, Underfolded helix, Short thumb, Cryptorchidism, Small han... |
OMIM:268400 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... |
ORPHA:544482 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Pectus excavatum, Cryptorchidism, Broad palm, Hypoplastic nipples, Clinodactyly of th... |
OMIM:618505 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia, Agenesis of pineal gland |
OMIM:614402 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Decreased se... |
ORPHA:79408 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Dysuria |
ORPHA:35687 |
| Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
| Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m... |
OMIM:311300 |
| Multiple Pterygium Syndrome, X-Linked |
|
Cleft palate, Pulmonary hypoplasia, Short finger, Intrauterine growth retardation |
OMIM:312150 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin... |
OMIM:619269 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hematuria, Micropenis, Hypospadias |
OMIM:619475 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
OMIM:264700 |
| Trichothiodystrophy |
|
Ventricular septal defect, Recurrent bronchopulmonary infections, Cryptorchidism, Bilateral micro... |
ORPHA:33364 |
| Gaucher Disease |
|
Hematuria, Proteinuria |
ORPHA:355 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Finger syndactyly, Hypospadias, Aplastic clavicle, Epispadias, Abnorma... |
ORPHA:2658 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease |
ORPHA:25 |
| Sotos Syndrome |
|
Ureteral duplication, Atrial septal defect, Conductive hearing impairment, Vesicoureteral reflux,... |
ORPHA:821 |
| Osteogenesis Imperfecta |
|
Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Femoral bowing, Abnormal long b... |
ORPHA:666 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Hydronephrosis, Fetal megacystis, Neonatal death, Microcolon |
OMIM:619362 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Cleft... |
ORPHA:87 |
| Myopathy With Extrapyramidal Signs |
|
Splenomegaly, Leukocytosis, Ventricular septal defect |
OMIM:615673 |
| Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Tapered finger, Increased femoral anteversion, Small hand, Vesicourete... |
OMIM:609460 |
| Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren... |
OMIM:617140 |
| Fanconi Anemia, Complementation Group N |
|
Short thumb, Aplastic anemia, Ventricular septal defect, Nephroblastoma |
OMIM:610832 |
| Agnathia-Otocephaly Complex |
|
Aglossia, Cleft palate, Holoprosencephaly, Pulmonary hypoplasia, Microglossia |
OMIM:202650 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Metatarsus adductus, Cryptorchidism... |
OMIM:227330 |
| Oculoskeletodental Syndrome |
|
Macroglossia, Protein-losing enteropathy, Low anterior hairline, Low posterior hairline |
OMIM:618440 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Thick lower lip vermilion, Abnormality of the dentition |
ORPHA:261652 |
| Shigellosis |
|
Hyponatremia, Hemolytic-uremic syndrome, Urethritis, Abnormal blood ion concentration, Acute kidn... |
ORPHA:810 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
| Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Epispadias, High, narrow palate, Coxa vara, Short palm, Clinodac... |
ORPHA:3107 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Low-set ears |
ORPHA:261190 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Rodrigues Blindness |
|
Microphthalmia, Protruding ear |
OMIM:268320 |
| Neu-Laxova Syndrome |
|
Micromelia, Microcephaly, Spina bifida, Submucous cleft hard palate, Cleft palate, Large hands, P... |
ORPHA:2671 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Anemia |
OMIM:615085 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the... |
OMIM:609638 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Eosinophilia, Abnormal hand mor... |
ORPHA:464 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Slender long bone, Abnormality of the elbow, Pulmonary hypoplasia, Abnormal hip bone morphology |
ORPHA:1486 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism |
OMIM:619908 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Preaxial hand polydactyly, Abnormal pelv... |
ORPHA:93271 |
| Mosaic Trisomy 20 |
|
Ventricular septal defect, Down-sloping shoulders, Abnormality of the kidney, Cryptorchidism, Dys... |
ORPHA:1724 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Ventricular septal defect, Supernumerary nipple |
OMIM:617635 |
| Eisenmenger Syndrome |
|
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Hypochromic m... |
ORPHA:97214 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
| Serotonin Syndrome |
|
Acute kidney injury |
ORPHA:43116 |
| Stevens-Johnson Syndrome |
|
Abnormality of the urethra, Renal insufficiency, Dysuria |
ORPHA:36426 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Optic disc hypoplasia, Ventricular septal defect, Low-set ears, Simple ear |
OMIM:619306 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Cleft palate, Pulmonary hypoplasia, Short finger, Intrauterine growth retardation |
OMIM:253290 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Dental malocclusion,... |
OMIM:101800 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomeru... |
OMIM:619127 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Tapered finge... |
OMIM:619539 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Microcolon |
OMIM:619431 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic... |
OMIM:180700 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Esophageal stricture, N... |
ORPHA:2908 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Low-set ears |
OMIM:618325 |
| Toxic Epidermal Necrolysis |
|
Abnormality of the urethra, Renal insufficiency, Dysuria |
ORPHA:537 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Macroglossia, Thick lower lip vermilion, Widely spaced teeth |
OMIM:309900 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Microcephaly, Epiphyseal stippling, Talipes equinovarus, Pulmonary hypoplasia, ... |
ORPHA:86822 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Finger syndactyly, Camptodactyly of finger, Abnormal p... |
ORPHA:2907 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal defect, D-2-h... |
ORPHA:99646 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia, Macrotia, Low-set ears |
OMIM:615145 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Hypospadias, Jejunal atresia, Ileal atresia, Cryptorchidism, Chordee, Secondary micro... |
OMIM:618820 |
| Cockayne Syndrome B |
|
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:133540 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Pectus excavatum, Abnormal tibia morphology,... |
ORPHA:363700 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Narrow palate, Abnormal hip bone morphology, Intraute... |
ORPHA:1323 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Hyposegmentati... |
OMIM:614800 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Cryptorchidism... |
ORPHA:536471 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Chylothorax, Thymus hyperplasia, Arachnodactyly, Talipes equinovarus |
OMIM:619036 |
| Yellow Fever |
|
Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Pancreatic hyper... |
ORPHA:99829 |
| C Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Toe syndactyly, Micromelia, Rena... |
ORPHA:1308 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, 2-3 toe cutaneous syndactyly, Velopharyngeal insufficiency, Cleft palate... |
OMIM:129400 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Thyroid C cell hyperplasia |
OMIM:300952 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Stage 5 chronic kidney disease |
OMIM:608612 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth... |
ORPHA:2108 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Atrial septal defect, Conductive hearing impairment, Accessory s... |
OMIM:194190 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tu... |
OMIM:218330 |
| Frontonasal Dysplasia 2 |
|
Bilateral cryptorchidism, Microphthalmia, Encephalocele, Low-set ears |
OMIM:613451 |
| Leigh Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Lacticaciduria, Methylmalonic acidur... |
ORPHA:506 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
| Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Broad hallux, Deviation of the hallux, Ventricular septal defe... |
ORPHA:434179 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematuria, Proteinuria |
ORPHA:99827 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Gingival overgrowth, Narrow palate, High palate, Narrow mouth, Malar flattening, Bif... |
OMIM:123790 |
| Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease |
ORPHA:2752 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Overlapping toe, Single transverse palmar crease, Arachnodactyly, Microcephaly, Contracture of th... |
ORPHA:83617 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the... |
ORPHA:364577 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Tented upper lip vermilion, Short phi... |
ORPHA:521445 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Acrofrontofacionasal Dysostosis 1 |
|
Mixed hearing impairment, Short metacarpal, Pectus excavatum, Microphthalmia, Acetabular dysplasi... |
OMIM:201180 |
| Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis |
OMIM:216400 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... |
ORPHA:438213 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Anisopoikilocytosis, Talipes equinovarus, S... |
OMIM:615789 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Ventricular septal defect, Metaphyseal widening, Phthisis bulbi, Tibial bowi... |
OMIM:259770 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Abnormal pinna morphology, Cutaneous syndactyly |
ORPHA:2890 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
| Familial Adenomatous Polyposis 1 |
|
Eruption failure, Supernumerary tooth, Carious teeth, Odontoma |
OMIM:175100 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia, Macrotia, Hypogonadism, Protruding ear |
OMIM:601675 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221016 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... |
ORPHA:369950 |
| Oculo-Palato-Cerebral Syndrome |
|
Small hand, Short foot, Thickened helices, Microphthalmia, Macrotia |
ORPHA:2714 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Bifid tongue... |
OMIM:268310 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Sandal gap, Posteriorly rotated ears, Ventricular septal defect, Optic nerve hypoplasia, Long fin... |
OMIM:620330 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:289157 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pneumonia, Pericardial effusion, Dilated cardiomyopathy, Atrial septal... |
ORPHA:26793 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Wide mouth |
ORPHA:1231 |
| Bloom Syndrome |
|
Syndactyly, Elevated hemoglobin A1c, Cryptorchidism, Recurrent upper respiratory tract infections... |
OMIM:210900 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Arachnodactyly, Cubitus valgus, Pectus excavatum, Short finger, Microphthalmia, Hom... |
OMIM:601552 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Overlapping toe, Cerebral hemorrhage, Proteinuria, Precocious puberty,... |
OMIM:616682 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Posteriorly rotated ears, Ventricular septal defect, Cryptorchidism... |
OMIM:607721 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Pulmonary hypoplasia, Hydronephrosis, Anal atresia |
OMIM:271520 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiome... |
OMIM:300967 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Phthisis bulbi, Broad ischia, Diaphyseal dyspla... |
OMIM:619727 |
| Aymé-Gripp Syndrome |
|
Patent ductus arteriosus, Proteinuria |
ORPHA:1272 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Cario... |
ORPHA:221008 |
| Unilateral Polymicrogyria |
|
Stroke, Infantile sensorineural hearing impairment, Pulmonary arteriovenous malformation, Abnorma... |
ORPHA:268943 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Cutaneous ... |
OMIM:620029 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft palate, Thick upper lip ... |
OMIM:247200 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency |
ORPHA:79430 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomegaly, Precocious... |
ORPHA:96191 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Eruption failure, Hi... |
OMIM:166250 |
| Holoprosencephaly 1 |
|
Adrenal hypoplasia, Alobar holoprosencephaly, Microphthalmia, Micropenis, Ethmocephaly, Diabetes ... |
OMIM:236100 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Widely spaced teeth, M... |
OMIM:301072 |
| Lethal Congenital Contracture Syndrome 9 |
|
Ulnar deviation of the hand, Talipes equinovarus, Short umbilical cord, Pulmonary hypoplasia, Int... |
OMIM:616503 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia |
OMIM:259600 |
| Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Hearing impairment |
ORPHA:891 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Atrial septal defect... |
OMIM:619991 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating creatin... |
ORPHA:99826 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux |
OMIM:120200 |
| Gaucher Disease, Perinatal Lethal |
|
Microcephaly, Pulmonary hypoplasia, Dysphagia, Neonatal death, Intrauterine growth retardation |
OMIM:608013 |
| Chronic Graft Versus Host Disease |
|
Hematuria, Urinary bladder inflammation, Phimosis |
ORPHA:99921 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Spl... |
OMIM:224120 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus |
OMIM:616538 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney |
ORPHA:449432 |
| Larsen Syndrome |
|
Finger syndactyly, Cryptorchidism, Accessory carpal bones, Cleft palate, Abnormal epiphysis morph... |
ORPHA:503 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Ventricular septal defect, Splenomegaly, Lymphadenopa... |
OMIM:619418 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Cryptorchid... |
OMIM:308205 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Precocious puberty, Short finger, Broad finger, Ureterocele, Umbilical... |
ORPHA:1934 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Renal cyst, Buphthalmos, Low-set ears, Decre... |
ORPHA:495875 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Primary Sclerosing Cholangitis |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia |
ORPHA:171 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Hallux valgus, Atrial septal defect, Ventricular septal defect, Anterior pituitary hypoplasia, Su... |
ORPHA:466791 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus |
OMIM:613150 |
| Stickler Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open... |
ORPHA:828 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Hypogonadotropic hypogonadism, Absent tragus, Hypospadias, Cryptorchid... |
OMIM:603457 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contracture, Elbow flexion contr... |
OMIM:620369 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h... |
OMIM:610828 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly, Supernumerary nipple |
ORPHA:1433 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Gingival overgrowth, Micrognathia |
ORPHA:313855 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
High palate, Pulmonary hypoplasia, Dysphagia |
OMIM:616866 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Deep philtrum, High palate, Open mouth, Retrognathia |
ORPHA:1675 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Micrognathia, Submucous cleft hard palat... |
ORPHA:235 |
| Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cleft palate |
ORPHA:158687 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protruding tongue, Fla... |
ORPHA:50945 |
| Sclerosteosis 1 |
|
Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C... |
OMIM:269500 |
| Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Ventricular septal defect, Talipes equinovarus, Low-set ears |
OMIM:614653 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Abnormality of the thyroid gland, Pectus excavatum, Abnormal mitral valve morp... |
ORPHA:1969 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:94089 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Hepatomegaly, Renal insufficiency, Glomerulonephritis |
ORPHA:3261 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Transient ischemic attack, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformat... |
OMIM:610655 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili... |
ORPHA:2785 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Oligodontia, Hypodontia, Conical tooth |
OMIM:308300 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Low-set ears, Microphthalmia, Spina bifida occul... |
OMIM:612109 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Scorpion Envenomation |
|
Ketonuria, Increased circulating NT-proBNP concentration, Increased circulating creatine kinase M... |
ORPHA:466677 |
| Aicardi Syndrome |
|
Spina bifida, Proximal placement of thumb, Precocious puberty, Recurrent pneumonia, Microphthalmia |
OMIM:304050 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Advanced eruption of teeth, Micrognathia |
ORPHA:280365 |
| Pitt-Hopkins Syndrome |
|
Wide mouth, Thick vermilion border, Short philtrum, Failure of eruption of permanent teeth, Tooth... |
ORPHA:2896 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Aicardi Syndrome |
|
Precocious puberty, Small hand, Protruding ear, Hip dysplasia, Delayed puberty, Microphthalmia |
ORPHA:50 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Cerebral arteriovenous malformatio... |
OMIM:187300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Elevated circulating creatine kinase co... |
OMIM:615287 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Coccidioidomycosis |
|
Renal insufficiency, Abnormality of the kidney, Abnormality of the bladder |
ORPHA:228123 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia, Increased circulating gonadotropin level, Cupped ear |
OMIM:110100 |
| Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Renal insufficiency, Abnormality of the kidney, Glomerulonephritis |
ORPHA:289390 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Small hand, Single transverse palmar crease, Ventricular septal hypert... |
OMIM:614947 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Diabetes mellitus, Venous insufficiency, Cryptorchidism, Sensorin... |
ORPHA:649 |
| Gardner Syndrome |
|
Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition |
ORPHA:79665 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Absent nipple, 3-4 finger cutaneous syndactyly, Protruding ear, Bilat... |
ORPHA:69085 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Tooth malposition |
OMIM:309350 |
| Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinos... |
ORPHA:797 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Behçet Disease |
|
Splenomegaly, Glomerulopathy, Renal insufficiency |
ORPHA:117 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia, Sensorineural hearing impairment, Hypogonadism |
OMIM:610651 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Intussusception, Neoplasm of the gallb... |
ORPHA:512 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Macroglossia, Carious teeth |
OMIM:253200 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Johanson-Blizzard Syndrome |
|
Atrial septal defect, Diabetes mellitus, Ventricular septal defect, Single transverse palmar crea... |
OMIM:243800 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia, Thickened cortex of long bones, Anemia, Abnormality of the me... |
OMIM:127000 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Gingival overgrowth |
ORPHA:508542 |
| Zygomycosis |
|
Renal insufficiency, Nephritis |
ORPHA:73263 |
| Adnp Syndrome |
|
Advanced eruption of teeth, Thin upper lip vermilion, Thick lower lip vermilion, Smooth philtrum |
ORPHA:404448 |
| Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ... |
ORPHA:733 |
| Acute Liver Failure |
|
Hepatic necrosis, Hyperammonemia, Hepatocellular necrosis, Hepatic periportal necrosis, Acute kid... |
ORPHA:90062 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Triphalangeal ... |
OMIM:149730 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79444 |
| Treacher Collins Syndrome 1 |
|
Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, Microtia, Abnormal parotid g... |
OMIM:154500 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Sensorineural hearing impairment, Buphthalmos |
OMIM:310600 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Transient ischemic attack, Cerebral arteriovenous malformatio... |
OMIM:600376 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Widely spaced teeth, Delayed eruption of primary teeth |
OMIM:617799 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis, Persistence of primary teeth |
ORPHA:93325 |
| Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Carious teeth, Oral ulcer |
ORPHA:811 |
| Holoprosencephaly 2 |
|
Adrenal hypoplasia, Alobar holoprosencephaly, Semilobar holoprosencephaly, Holoprosencephaly, Mic... |
OMIM:157170 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia, Sensorineural hearing impairment |
OMIM:278730 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Cryptorchidism, Split hand, Cleft palate |
ORPHA:1300 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition |
ORPHA:2036 |
| Leptospirosis |
|
Cellular urinary casts, Hepatomegaly, Hyperproteinemia, Acute kidney injury |
ORPHA:509 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Spontaneous pneumothorax, Polyuria, Pulmonary arteriovenous malformation, Low-set ears, Type I di... |
OMIM:606721 |
| Pmm2-Cdg |
|
Pericarditis, Abnormal pinna morphology, Hypogonadotropic hypogonadism, Elevated circulating grow... |
ORPHA:79318 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts, Pectus excavatum, Uplifted earlobe |
OMIM:618548 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia |
ORPHA:79443 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Posteriorly rotated ears, Down-sloping shoulders, Short foot, Clinodactyly of ... |
ORPHA:1974 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Listeriosis |
|
Acute kidney injury, Pyelonephritis |
ORPHA:533 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... |
OMIM:175780 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Absent nipple, Split foot, Hypoplastic nipples, Breast hypoplasia |
ORPHA:978 |
| Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Carious teeth, High palate, Long philtrum, Microdon... |
OMIM:278250 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Tooth abscess |
ORPHA:289176 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Craniofacial osteosclerosis, Carious teeth |
ORPHA:1328 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Carious teeth, High palate, Small, conical teeth, Smooth philtrum, Lon... |
ORPHA:2834 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum |
ORPHA:2612 |
| African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Hepatosplenomegaly |
ORPHA:3385 |
| Isolated Arrhinia |
|
Microphthalmia, Microtia |
ORPHA:1134 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta... |
OMIM:182250 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Hypoplasia of the nasal bone, Hypoplasia of the ... |
ORPHA:93357 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, High palate, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musc... |
ORPHA:1521 |
| Dpagt1-Cdg |
|
Arachnodactyly, Microcephaly, Pulmonary hypoplasia, Camptodactyly, Clinodactyly |
ORPHA:86309 |
| Blau Syndrome |
|
Splenomegaly, Nephropathy, Clear cell renal cell carcinoma, Stage 5 chronic kidney disease |
ORPHA:90340 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| Wiedemann-Rautenstrauch Syndrome |
|
Natal tooth, Thin upper lip vermilion, Abnormality of the dentition, Downturned corners of mouth,... |
ORPHA:3455 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Microphthalmia, Hypoplasia of the retina, Hydrocephalus |
OMIM:253280 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease |
ORPHA:642 |
| Alström Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent cystitis, Detrusor sphincter dyssyner... |
ORPHA:64 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
| Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, S... |
OMIM:620076 |
