Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated urinary uridine level |
OMIM:618477 |
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, Proteinuria, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
Hydroxyprolinemia |
|
Microscopic hematuria |
OMIM:237000 |
Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
Complement Factor H Deficiency |
|
Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... |
OMIM:609814 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Renal cyst, Hypospadias, Right aortic a... |
OMIM:231060 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... |
OMIM:616749 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
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 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... |
OMIM:600995 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease |
OMIM:602114 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Ectopic kidney, Dislocated r... |
ORPHA:401935 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
Nephronophthisis 16 |
|
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... |
OMIM:615382 |
Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Pulmonary hypoplasia, Anophthalmia, Ventricular septal defect, Bilateral lung... |
OMIM:601186 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/ap... |
ORPHA:1166 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors |
OMIM:183300 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... |
ORPHA:185 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Crypt hyperplasia, Villous atrophy |
OMIM:613217 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Aplasia/hypoplasia involving ... |
ORPHA:3384 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:618913 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal cardiac septum morphology, Renal agenesis, Upper limb phocomelia, Syndactyl... |
ORPHA:294975 |
Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts |
OMIM:609886 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Ventricular ... |
ORPHA:1926 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... |
OMIM:613751 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ren... |
OMIM:617478 |
Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... |
OMIM:220100 |
Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... |
OMIM:217095 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... |
OMIM:613854 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Polycystic ovaries, Prot... |
OMIM:608709 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia/aplas... |
ORPHA:2516 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... |
ORPHA:860 |
Xanthinuria, Type Ii |
|
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... |
OMIM:603592 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Maternal diabetes, Abnormal tricuspid valve morphology, Pulmonary arter... |
ORPHA:1208 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Hydranencephaly, Short ... |
OMIM:601355 |
Amyloidosis, Familial Visceral |
|
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... |
ORPHA:1354 |
Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Hypoplastic... |
ORPHA:1727 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
Gombo Syndrome |
|
Clinodactyly, Delayed puberty, Radial deviation of finger, Abnormal heart morphology, Microphthal... |
OMIM:233270 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... |
ORPHA:1209 |
Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... |
ORPHA:477781 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Sensorineural hearing impairment, Decreased testicular size, Bilat... |
ORPHA:2326 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria |
OMIM:314000 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glo... |
OMIM:614377 |
Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Microvillar PAS-positive secretory granules, Villous atrophy |
OMIM:619445 |
Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Conductive hearing impairment, Myelomeningocele, Ve... |
ORPHA:2876 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612926 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Ventricular septal defect, Vascular ring, Hydrocephalus, Atrial septal de... |
OMIM:603387 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ... |
ORPHA:103907 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612924 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... |
OMIM:618300 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Bronchiectasis, Situs inversus totalis, Dextrocardia, Right aortic arch, Hearing ... |
OMIM:617577 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... |
ORPHA:839 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Hand clenching, Ventricular septal defect, Interrupted aortic arch, Micr... |
OMIM:616920 |
Feingold Syndrome Type 1 |
|
2-3 toe syndactyly, Conductive hearing impairment, Renal dysplasia, Toe syndactyly, Short middle ... |
ORPHA:391641 |
Meckel Syndrome, Type 8 |
|
Polydactyly, Encephalocele, Anophthalmia, Pericardial effusion, Enlarged kidney, Polycystic kidne... |
OMIM:613885 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla... |
OMIM:263200 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... |
OMIM:613759 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... |
OMIM:273050 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:619702 |
Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Syndactyly, Brachydactyly, Rena... |
OMIM:616589 |
Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease |
OMIM:123550 |
Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Hyperthyroidism, Truncus arteriosus, Ventricular septal defect, Hallux v... |
ORPHA:2008 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary hypoplasia, Pectus excavatum, Overlapping toe, Cutaneous syndactyly, Posteriorly rotate... |
OMIM:618316 |
Seckel Syndrome 9 |
|
Ventricular septal defect, Recurrent urinary tract infections, Protruding ear, Atrial septal defe... |
OMIM:616777 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ... |
ORPHA:3426 |
Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Sensorineural hearing impairment, Abnormal cardi... |
ORPHA:250989 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, 2-3 toe syndactyly, Aortopulmonary window, Ventricular septal defect, Finge... |
OMIM:620025 |
Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... |
OMIM:618780 |
Pagod Syndrome |
|
Meningocele, Abnormal aortic morphology, Multicystic kidney dysplasia, Encephalocele, Abnormal te... |
ORPHA:991 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Short long bone, Bilateral renal agenesi... |
OMIM:618845 |
Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Absent thumb, Truncus arteriosus, Ventricular septa... |
OMIM:617516 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome |
OMIM:617006 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Renal hypoplasia, Pulmo... |
OMIM:612946 |
Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypop... |
OMIM:618280 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... |
OMIM:619902 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat... |
OMIM:162000 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Trisomy 13 |
|
Patent ductus arteriosus, Abnormal antihelix morphology, Sensorineural hearing impairment, Anopht... |
ORPHA:3378 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Anemia, Sensorineural hearing impairment, Ventricular septal defect, Ap... |
ORPHA:290 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... |
ORPHA:85450 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... |
ORPHA:49042 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Abnormal lung lobation, Pu... |
OMIM:615415 |
Bardet-Biedl Syndrome 16 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency |
OMIM:615993 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Asplenia, Left atrial isomerism, Bi... |
OMIM:605376 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Renal cortical cysts, 2-3 finger syndactyly, Toe syndactyly, Elbow flexi... |
ORPHA:1692 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... |
OMIM:145001 |
Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... |
OMIM:619468 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep... |
OMIM:615297 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Pulmonary hypoplasia, Microphth... |
OMIM:615524 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Elevated circula... |
OMIM:614455 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hematuria, Recurrent urinary tract infections |
ORPHA:284400 |
Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
Meacham Syndrome |
|
Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Ventricular septal... |
OMIM:608978 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... |
ORPHA:1457 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
Lesch-Nyhan Syndrome |
|
Renal insufficiency, Hematuria |
ORPHA:510 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... |
OMIM:220210 |
Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... |
OMIM:618594 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Abnormal mandible morphology, Natal tooth |
OMIM:217150 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Renal dysplasia, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Mu... |
ORPHA:2538 |
Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal hand morphology, Short 5th metacarpal, Bicuspid aortic valve, ... |
ORPHA:228190 |
Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Conductive hearing impairment, Ventricular septal defect, Microtia, Dec... |
OMIM:147770 |
Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613779 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalocele, Ventricular septa... |
ORPHA:1908 |
Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Short foot, Microtia, Sm... |
OMIM:300712 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Unilateral ... |
OMIM:206920 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Thrombocytopenia, Rocker bottom foot, Posteriorly rotated e... |
ORPHA:163979 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Unbalanced atrioventricular ca... |
OMIM:619657 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu... |
ORPHA:99050 |
Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... |
OMIM:300555 |
Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:261670 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... |
OMIM:612933 |
Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Abnormality of ... |
ORPHA:3266 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Abdominal situs inversus, B... |
OMIM:306955 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine concentration, Focal segm... |
OMIM:617056 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Abnormality of the hand, ... |
OMIM:192430 |
Cystinuria |
|
Renal insufficiency, Hematuria, Nephrolithiasis |
ORPHA:214 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome |
OMIM:249660 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Hypoalbuminemia, Nephrotic syndrome |
OMIM:614652 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Hydrocele testis, Atrial sept... |
OMIM:601927 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, 2-3 toe syndactyly, Macrotia, Clubbing o... |
ORPHA:3304 |
Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... |
OMIM:619113 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Nephrosialidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome |
OMIM:256150 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid... |
ORPHA:411536 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, C... |
OMIM:604381 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephropathy, Hematuria, Nephrolithiasis |
ORPHA:2196 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Splenomegaly, Hepatomegaly |
OMIM:615285 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Polyuria, Hyponatremia, Protein... |
OMIM:613845 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, 2-3 toe syndactyly, Short 5th finger, Truncus arteriosus, Hip disl... |
ORPHA:508498 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal pulmonary situs morphology, Abnormality of abdominal situs, Hydro... |
ORPHA:1666 |
Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... |
OMIM:602522 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Macrotia, Truncus arteriosus, Ventricular septal defect, Low-set ears, ... |
OMIM:609029 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... |
ORPHA:228302 |
Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Villous atrophy, Brittle hair, Woolly hair, Uncombable hair, Colitis, Spars... |
OMIM:614602 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Pulmonary hypoplasia, Nephropathy, Multiple renal cysts, Bilateral single t... |
ORPHA:3033 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Hematuria |
OMIM:611773 |
Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Encephalocele, Ventricular septal defect, Hydrocephalus, Renal agenesis, Atri... |
OMIM:264480 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... |
ORPHA:2025 |
Trisomy 1Q |
|
Patent ductus arteriosus, Camptodactyly of finger, Multicystic kidney dysplasia, Congenital megau... |
ORPHA:261344 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Coxa valga, Optic nerve hypoplasia, Postaxial hand polydactyly, Deep palmar crease, Thrombocytope... |
OMIM:301056 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, Abnormal in... |
OMIM:256500 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... |
OMIM:613426 |
Floating-Harbor Syndrome |
|
Ivory epiphyses of the distal phalanges of the hand, Conductive hearing impairment, Congenital po... |
OMIM:136140 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... |
ORPHA:567548 |
Floating-Harbor Syndrome |
|
Conductive hearing impairment, Precocious puberty, Congenital posterior urethral valve, Dislocate... |
ORPHA:2044 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Asplenia, Pulmonary artery dilatation, Pleural effusion, Pulmonary... |
OMIM:265380 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:157 |
Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:54057 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
Anti-Glomerular Basement Membrane Disease |
|
Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria |
ORPHA:375 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... |
ORPHA:2228 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:228308 |
Synpolydactyly 1 |
|
Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Preeclampsia |
|
Acute kidney injury, Abnormality of the kidney, Polycystic ovaries, Elevated circulating creatini... |
ORPHA:275555 |
Hereditary Xanthinuria |
|
Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff... |
OMIM:256300 |
You-Hoover-Fong Syndrome |
|
Vascular ring, Clinodactyly, Coarctation of aorta, Pectus excavatum, Double aortic arch, Brachyda... |
OMIM:616954 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... |
ORPHA:216694 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Hepatomegaly, Proteinuria, Splenomeg... |
OMIM:620010 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... |
ORPHA:2364 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Patent ductus arteriosus, Macrotia, Hypoplastic helices, Ventricular septal defect, Low-set ears,... |
OMIM:600460 |
Frasier Syndrome |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Hypoplasia of the thymus, Abnormality of the c... |
ORPHA:40366 |
Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Hinman Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... |
ORPHA:84085 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Urofacial Syndrome 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... |
OMIM:615112 |
Primary Ciliary Dyskinesia |
|
Asplenia, Conductive hearing impairment, Bronchiectasis, Abnormal inferior vena cava morphology, ... |
ORPHA:244 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Renal cyst |
OMIM:138790 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Sensorineural hearing impairment, Ventricular septal defect, Peripheral pulm... |
OMIM:617992 |
Adams-Oliver Syndrome |
|
Leukopenia, Abnormality of the upper limb, Encephalocele, Absent toe, Finger syndactyly, Arteriov... |
ORPHA:974 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... |
OMIM:231680 |
Czeizel-Losonci Syndrome |
|
Hypoplastic helices, 2-3 finger syndactyly, Pulmonary hypoplasia, Spina bifida occulta, 1-2 finge... |
ORPHA:2437 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
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 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Conductive hearing impairment, Reduced proximal interphalangeal joint space, Abnormal palmar derm... |
ORPHA:3246 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Patent foramen ovale, Absent gallbladder, Pancreatic hypoplasia, Truncu... |
OMIM:600001 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Patent foramen ovale, 2-3 toe syndactyly, Ventricular septal defec... |
ORPHA:477817 |
Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Renal dysplasia, Toe syndactyly, Short femu... |
ORPHA:93323 |
Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... |
ORPHA:79233 |
Keutel Syndrome |
|
Macrotia, Ventricular septal defect, Shortening of all distal phalanges of the fingers, Epiphysea... |
OMIM:245150 |
Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Macrotia, Truncus arteriosus, Ventricular septal defect, Low-set ears, ... |
ORPHA:96170 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal circulating lipid concentration |
ORPHA:225 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Coarctation of aorta, Pectus e... |
ORPHA:261243 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Villous atrophy |
OMIM:600955 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Anophthalmia, Ventricular septal defect, Hydrocephalus, Hypoplasia of p... |
ORPHA:77298 |
Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Secundum atrial septal defect, Lop ear, Holoprosencephal... |
OMIM:214800 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc... |
OMIM:614227 |
Charge Syndrome |
|
Aortic arch aneurysm, Abnormal cardiac septum morphology, Anterior hypopituitarism, Holoprosencep... |
ORPHA:138 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Sensorineural hearing impairment, Truncus arteriosus, Ventricular septal... |
ORPHA:261330 |
Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Feingold Syndrome 1 |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Short toe, Asplenia, Ventricular septal defect, Int... |
OMIM:164280 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Hypothyroidism, Conductive hearing impairment, Hypoplasia of the thymus, Truncus art... |
ORPHA:567 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Aganglionic megacolo... |
ORPHA:95427 |
Primary Pulmonary Hypoplasia |
|
Patellar hypoplasia, Pneumothorax, Secundum atrial septal defect, Pulmonary hypoplasia, Ureteral ... |
ORPHA:2257 |
8P23.1 Duplication Syndrome |
|
Ventricular septal defect, Toe syndactyly, Adrenal insufficiency, Hearing impairment, Tetralogy o... |
ORPHA:251076 |
Crossed Polysyndactyly |
|
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly |
ORPHA:2935 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Ventricular septal defect, Short long bone, Pulmonary hypoplasia, Femor... |
OMIM:617022 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Asplenia, Ascending tubular aorta aneurysm, Abdominal situs ambigu... |
OMIM:270100 |
Pallister-Hall Syndrome |
|
Precocious puberty, Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Decreased circulating ... |
OMIM:146510 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea nitrogen, Hyperca... |
ORPHA:251004 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Ventricular septal defect, Hip dysplasia, Unilateral renal agenesis, Atrial... |
OMIM:618494 |
Pyle Disease |
|
Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absent paranasal s... |
OMIM:265900 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Polycystic ovaries, Enlarged polycystic ovaries |
ORPHA:90301 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Coarctation of aorta, Bro... |
OMIM:217085 |
Joubert Syndrome 4 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor... |
OMIM:609583 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Hematuria, Abnormality of the pulmonary artery, Atrial septal defect, V... |
ORPHA:90308 |
Brachydactyly, Type E2 |
|
Oligodontia, Delayed eruption of teeth |
OMIM:613382 |
Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Renal insufficiency, Patent ductus arteriosus, Hydronephrosis |
OMIM:615996 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis, Hepatosplenomegaly |
OMIM:232500 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Absent thumb... |
ORPHA:392 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Optic nerve hypoplasia, Spin... |
ORPHA:508488 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... |
ORPHA:2970 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Patent ductus arteriosus, Camptodactyly of finger, Midshaft hypospadias, Renal hypoplasia/aplasia... |
ORPHA:2863 |
Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Premature thelarche, Flared iliac wing, Pectus excavatum, Spina bifida occulta, Dupl... |
OMIM:180849 |
Tubulointerstitial Nephritis With Uveitis |
|
Glomerulonephritis, Elevated circulating creatinine concentration, Reversible renal failure, Acut... |
OMIM:607665 |
Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2026 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Abnormal renal physiology, Increased blood urea nitrogen, Elevated cir... |
OMIM:274150 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia |
ORPHA:147 |
Immunodeficiency 33 |
|
Conical tooth, Hypodontia, Delayed eruption of teeth |
OMIM:300636 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplastic tricuspid valve, Hypoplasia of right ventricle, Pulmonary artery stenosis, Double out... |
ORPHA:2255 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:301006 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren... |
OMIM:308940 |
Mmep Syndrome |
|
Triphalangeal thumb, Ventricular septal defect, Split foot, Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia, Hepatomegaly |
ORPHA:28 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Joint cont... |
OMIM:136760 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Cardiomegaly, Pneumothorax, Ventricular septal defect, Bronchiectasis, ... |
ORPHA:95430 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Hypothyroidism, Adrenal insufficiency, Broad hallux, 2-3 toe cutaneous syndac... |
OMIM:300166 |
Primary Hyperoxaluria Type 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ... |
ORPHA:93599 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Cardiomegaly, Decreased plasma free carnitine, Renal dysplasia, Enlarg... |
OMIM:608836 |
Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Bifid distal phalanx of the thumb, Hypoplastic helices, Ventricula... |
ORPHA:2209 |
Hypomagnesemia 3, Renal |
|
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hematuria,... |
OMIM:248250 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Atrioventricular canal defect, Isomerism, Enlarged kidney, Hydrocephalus, Hand ... |
OMIM:314390 |
Distal Tetrasomy 15Q |
|
Patent ductus arteriosus, Nephroblastoma, Sensorineural hearing impairment, Microtia, Abnormality... |
ORPHA:314588 |
Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... |
OMIM:300009 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Premature thelarche, Abnormal hand morphology, Ventricular septal ... |
ORPHA:371428 |
Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Renal insufficiency, Hepatomegaly |
ORPHA:890 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Temtamy Syndrome |
|
Short toe, Genu varum, Aortic aneurysm, Clinodactyly of the 5th finger, Microphthalmia, Brachydac... |
ORPHA:1777 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ... |
OMIM:146255 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal tubular dysfun... |
OMIM:134600 |
Oligomeganephronia |
|
Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr... |
ORPHA:2260 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Hypophosphatemia, Generalized aminoaci... |
OMIM:613388 |
Granulomatous Slack Skin |
|
Acute kidney injury, Nephrocalcinosis, Hypercalcemia |
ORPHA:33111 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Hyperlysinemia |
|
Hyperlysinuria, Hypoplastic helices, Cystinuria, Pulmonary artery hypoplasia, Recurrent pneumonia... |
ORPHA:2203 |
Congenital Tufting Enteropathy |
|
Elevated fecal osmolality, Villous atrophy, Abnormal large intestinal mucosa morphology, Malabsor... |
ORPHA:92050 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Tali... |
ORPHA:1106 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Hypospadias, Brachydactyly, Low-... |
ORPHA:1919 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Sensorineural hearing impairment, Branchial anomaly, Abnormal mitr... |
ORPHA:1131 |
Megabladder, Congenital |
|
Patent ductus arteriosus, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogen... |
OMIM:618719 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
1Q21.1 Microduplication Syndrome |
|
Hip dysplasia, Hydrocephalus, Hip dislocation, Hypospadias, Cryptorchidism, Tetralogy of Fallot, ... |
ORPHA:250994 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Hyperlipidemia, Hepatomegal... |
OMIM:232200 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Abnormality of the anterior pituitary, Ventricular septal defect, Posterior pituitary hypoplasia,... |
ORPHA:75389 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Renal insufficiency, Proteinuria |
OMIM:134610 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process e... |
OMIM:617575 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Ureteral agenesis, 2-3 toe syndactyly, Renal dysplasia, Clinodactyly of the 5th finger, Pulmonary... |
OMIM:236500 |
Uremic Pruritus |
|
Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Re... |
ORPHA:94059 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Tapered fing... |
ORPHA:251071 |
Absence Of The Pulmonary Artery |
|
Patent ductus arteriosus, Patent foramen ovale, Cardiomegaly, Truncus arteriosus, Abnormal cardia... |
ORPHA:980 |
Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Amyloidosis, Finnish Type |
|
Renal insufficiency, Nephrotic syndrome |
OMIM:105120 |
Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria, Renal cyst, D... |
ORPHA:97362 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Secundum atrial septal defect, Left ventr... |
OMIM:108900 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly of the 5th finger, Single trans... |
OMIM:619717 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
Meckel Syndrome, Type 4 |
|
Meningocele, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocephalus, Atrial septal ... |
OMIM:611134 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Short philtrum, Tooth agenesis, Abnormal dental... |
ORPHA:2325 |
Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Abnormality of the upper limb, Finger syndactyly, Clinodactyly of the 5th finger, Bilateral singl... |
ORPHA:1891 |
Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Hematuria, Proteinuria |
ORPHA:1765 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Polycystic kidney dysplasia, Decreased plasma c... |
ORPHA:26791 |
Thomas Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3316 |
Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... |
OMIM:134780 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Polydactyly, Ventricular septal defect, Hydrocephalus, Large earlobe, Syndactyly,... |
OMIM:602501 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Holoprosencephaly, Anophthalmia |
OMIM:611638 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Patent foramen ovale, 3-Methylglutaconic aciduria, Polydactyly, Sensori... |
ORPHA:17 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Membranous n... |
ORPHA:49041 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Renal cyst, Hepatomegaly |
OMIM:614870 |
Distal 16P11.2 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hyperuricemia, Abnormality of the kidney, Renal agenesis, Proteinuria, Chr... |
ORPHA:261222 |
Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating C-reactive protein concentration, ... |
ORPHA:231111 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl... |
OMIM:615862 |
Papillorenal Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Renal malrot... |
OMIM:120330 |
Oculofaciocardiodental Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Genu valgum, Sensorineural hearing impairment, Abno... |
ORPHA:2712 |
Noonan Syndrome With Multiple Lentigines |
|
Atrioventricular canal defect, Vascular dilatation, Sensorineural hearing impairment, Abnormal mi... |
ORPHA:500 |
Down Syndrome |
|
Atrioventricular canal defect, Hypothyroidism, Conductive hearing impairment, Pulmonary artery st... |
OMIM:190685 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Symphalangism affecting the phalanges of the hand, Camptodactyly of fin... |
ORPHA:2547 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia, Hepatomegaly, Hepatosplenomegaly |
OMIM:608776 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Chronic tubulointerstitial nephritis, Glomerulonephritis, Hepatom... |
OMIM:614376 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Abnormality of thyroid physiology, Microphallus, Cryptorchidism, Corpus cavernosum hypoplasia, Pe... |
OMIM:615542 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Arrhinencephaly, Camptodactyly, Renal cyst, Horseshoe kidney, Occipita... |
OMIM:614815 |
Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Truncus arteriosus, Renal dysplasia, Recurrent sinusiti... |
OMIM:188400 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Acute kidney injury, Renal insufficiency,... |
ORPHA:411543 |
Galloway-Mowat Syndrome 10 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial sclerosis, Pr... |
OMIM:619609 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Asplenia, Renal dysplasia, Hip dislocation, Elbow dislocation, Deep palm... |
ORPHA:99776 |
Distal Monosomy 15Q |
|
Abnormal cardiac septum morphology, Hip dislocation, Pulmonary hypoplasia, Abnormal aortic arch m... |
ORPHA:1596 |
Galloway-Mowat Syndrome 4 |
|
Congenital nephrotic syndrome, Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesang... |
OMIM:617730 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Pectus ex... |
ORPHA:1937 |
Senior-Loken Syndrome |
|
Stage 5 chronic kidney disease, Nephronophthisis, Chronic kidney disease |
ORPHA:3156 |
Femoral-Facial Syndrome |
|
Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis |
ORPHA:1988 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Elevated circulating creatine kinase concentrati... |
OMIM:619386 |
Syndactyly, Type Iii |
|
4-5 finger syndactyly, Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger |
OMIM:186100 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Low-set ears, Clinodacty... |
OMIM:618164 |
Primary Hyperoxaluria Type 1 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, He... |
ORPHA:93598 |
Catel-Manzke Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Clinodactyly of the 5th fi... |
ORPHA:1388 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Increased blood urea nitrogen, Hyperlipid... |
OMIM:235400 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Sensorineural hearing impairment, Tapered finger, Finger syndactyly, Camptodactyly, Hypospadias, ... |
ORPHA:435938 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Secundum atrial septal defect, Hepatosplenomegaly, Thrombocytopenia, Sp... |
OMIM:612541 |
Renal Coloboma Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins... |
ORPHA:1475 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Enlarged kidney, Decreased glomerular filtration rate, Hyperlipidemia, Hepatomegal... |
OMIM:232220 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc... |
ORPHA:99879 |
Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Spinal dysraphism, Anterior hypopituitarism, Holoprosencephaly, Ab... |
ORPHA:2162 |
Timothy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Bronchitis, Hypothyroidism, Ventricular septal de... |
OMIM:601005 |
Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Short mandibular rami, Tongue atrophy, Delayed eruption of teeth |
OMIM:141300 |
Craniofacial Microsomia |
|
Conductive hearing impairment, Pulmonary hypoplasia, Atresia of the external auditory canal, Vesi... |
OMIM:164210 |
Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Syndactyly, Short palm |
ORPHA:79094 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hepatomegaly, Nephrocalcinosis, P... |
OMIM:616026 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Frasier Syndrome |
|
Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme... |
ORPHA:347 |
Familial Reactive Perforating Collagenosis |
|
Chronic kidney disease |
ORPHA:79147 |
Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Low-molecular-weight proteinuria, Elevated circulat... |
OMIM:615605 |
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 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Annular pancreas, Abnorm... |
ORPHA:2470 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Multiple renal cysts, Hepatomegaly |
ORPHA:2924 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Patent ductus arteriosus, Patent foramen ovale, Short sternum, Ventricular septal defect, Clinoda... |
OMIM:620113 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger |
OMIM:187500 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndrome |
OMIM:618347 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Anotia, Microtia, Bicuspid aortic valve, Hydrocepha... |
ORPHA:2306 |
Odontomicronychial Dysplasia |
|
Premature loss of primary teeth, Premature eruption of permanent teeth, Abnormality of the dentition |
ORPHA:1811 |
Waardenburg Syndrome Type 2 |
|
Abnormality of the kidney, Hearing impairment, Sensorineural hearing impairment, Abnormality of t... |
ORPHA:895 |
Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:618348 |
Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger, Cryptorchidism, Brachydactyly |
ORPHA:3303 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Macrotia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Renal hypoplasia/aplasia, Hypercalcemia, Hepatomegaly, Renal insufficiency |
ORPHA:2123 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep... |
OMIM:301050 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
Cardiac Valvular Dysplasia 1 |
|
Hypoplasia of right ventricle, Patent foramen ovale, Left aortic arch with cervical origin of the... |
OMIM:212093 |
Fryns Syndrome |
|
Vesicoureteral reflux, Abnormal aortic morphology, Multicystic kidney dysplasia, Abnormal cardiac... |
ORPHA:2059 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Macrotia, Crossed fused renal ectopia, Ventricular septal defect, Bilat... |
OMIM:618142 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Patent ductus arteriosus, Pancreatic cysts, Renal dysplasia, Stage 5 chronic kidney disease, Enla... |
OMIM:208540 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Pulm... |
OMIM:249670 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Patent ductus arteriosus, Nephrotic syndrome, Enlarged kidney, Nephritis, ... |
OMIM:617303 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Hypospadias, Stage... |
OMIM:191800 |
Lowry-Maclean Syndrome |
|
Cleft palate, Delayed eruption of teeth |
OMIM:600252 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria |
OMIM:166300 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Nephropathy, Hepatomegaly, Nephrocalcinosis, P... |
OMIM:613404 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Villous atrophy |
OMIM:616050 |
Posterior Urethral Valve |
|
Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention... |
ORPHA:93110 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... |
ORPHA:1617 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Sensorineural hearing impairment, Finger syndactyly, Hip dysplasia, Amegakaryocytic thrombocytope... |
ORPHA:71289 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Ascending tubular aorta aneurysm, Truncus arteriosus, Camptodactyly, Pectus excavatum, Broad hall... |
OMIM:612474 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
2-3 toe syndactyly, Short 2nd finger, Short 5th finger, Ventricular septal defect, Congenital lob... |
OMIM:600987 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Vesicouret... |
OMIM:607323 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Sensorineural hearing impairment, Ventricular sep... |
OMIM:618652 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Cryptorchidism, Low-set, posteriorly r... |
ORPHA:1918 |
Carpenter Syndrome 1 |
|
Conductive hearing impairment, Coxa valga, Precocious puberty, Toe syndactyly, Flared iliac wing,... |
OMIM:201000 |
14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Toe syndactyly, Toe clinodactyly, Low-set, p... |
ORPHA:261120 |
Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic v... |
OMIM:616652 |
Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Hypoplasia of the thymus, Joint contracture of the hand, Polycystic kidney dysplas... |
OMIM:214110 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Glomerulonephritis, Chronic kidney disease |
ORPHA:2172 |
Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Cardiomegal... |
ORPHA:255249 |
Monosomy 18Q |
|
Hypothyroidism, Bilateral conductive hearing impairment, Tapered finger, Secundum atrial septal d... |
ORPHA:1600 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Upper limb undergrowth, Lower limb undergrowth, Horseshoe kidney, Tetral... |
OMIM:613630 |
Hypomagnesemia 2, Renal |
|
Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insufficiency, Hypomagnesemia |
OMIM:154020 |
Feingold Syndrome 2 |
|
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd... |
OMIM:614326 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Abnormal cardiac septum morphology, Toe syndactyly, Upper limb asymmetry... |
ORPHA:2092 |
Ochoa Syndrome |
|
Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie... |
ORPHA:2704 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Conductive hearing impairment, Broad hallux, Abnormality of the urinary system, Pneumonia, Nephro... |
ORPHA:353281 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Hydrocephalus, Intracranial hemorrhage, Re... |
OMIM:614424 |
Meckel Syndrome |
|
Asplenia, Aplasia/Hypoplasia of the iris, Lobar holoprosencephaly, Postaxial hand polydactyly, Mu... |
ORPHA:564 |
Aortic Arch Interruption |
|
Patent ductus arteriosus, Double outlet right ventricle, Abnormal ascending aorta morphology, Aor... |
ORPHA:2299 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Pancolitis, Ileitis, Abnormal intestine morphology, Gastritis, Esophagitis, Protein-losing entero... |
OMIM:619079 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Finger syndactyly, Hydrocephalus, Clinodactyly, Overfolded helix, Low-s... |
ORPHA:251046 |
Ameloonychohypohidrotic Syndrome |
|
Marked delay in eruption of permanent teeth, Hypocalcification of dental enamel, Yellow-brown dis... |
OMIM:104570 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Patent ductus arteriosus, Pulmonary sequestration, Ventricular septal defect, Atrial septal defec... |
OMIM:618330 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Congenital hip dislocation, Microphthalmia, Cryptorchidism |
OMIM:164180 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Hyperuricemia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic ... |
ORPHA:79259 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Hypogonadism, Bilateral radial... |
OMIM:300514 |
Catifa Syndrome |
|
Long philtrum, Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Tooth malp... |
OMIM:618761 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Micropenis, Brachydactyly |
OMIM:615983 |
Vascular Hyalinosis |
|
Malabsorption, Protein-losing enteropathy, Hematochezia, Premature graying of hair |
OMIM:277175 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Triphalangeal thumb, Preaxial hand polyd... |
ORPHA:1120 |
Li-Campeau Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Patellar hypoplasia, Ventricular ... |
OMIM:619189 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Conductive hearing impairment, Broad hallux, Abnormal subclavian artery morphology, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Conductive hearing impairment, Broad hallux, Abnormal subclavian artery morphology, ... |
ORPHA:353277 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Protein-losing enteropathy, Steatorrhea, Villous atrophy |
OMIM:602579 |
Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Abnormally large globe, Secundum atrial septal defect, Camptodactyly, Me... |
OMIM:249420 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Thrombocytopenia-Absent Radius Syndrome |
|
Coxa valga, Abnormal cardiac septum morphology, Hip dislocation, Phocomelia, Thrombocytopenia, Ap... |
ORPHA:3320 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Metaphyseal chondrodysplasia |
OMIM:200900 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent ductus arteriosus, Double outlet right ventricle, Vesicoureteral reflux, Patent foramen ov... |
ORPHA:163956 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:1192 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Hepatomegaly, Nephronophthisis, Hype... |
OMIM:616217 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Wrist flexion contracture, Abnormal finger morphology, Microtia, Hip dysplasia, Lop ear, Radiouln... |
ORPHA:436003 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormal small intestine morphology, Alopecia |
ORPHA:100025 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Encephalocraniocutaneous Lipomatosis |
|
Subvalvular aortic stenosis, Ventricular septal defect, Hypoplasia of the iris, Hydrocephalus, At... |
OMIM:613001 |
Bardet-Biedl Syndrome 17 |
|
Polydactyly, Hypogonadism, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Postaxial foot ... |
OMIM:615994 |
20Q13.33 Microdeletion Syndrome |
|
Tapered finger, Prominent crus of helix, Hallux valgus, Dilation of Virchow-Robin spaces, Short l... |
ORPHA:261311 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Atrial Septal Defect 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... |
OMIM:607941 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short middle phalanx of fi... |
ORPHA:391646 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Atrioventricular canal defect, Polydactyly, Unbalanced atrioventricular c... |
OMIM:619534 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... |
OMIM:609057 |
Hydrolethalus |
|
Anophthalmia, Arrhinencephaly, Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Microphtha... |
ORPHA:2189 |
Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Aplasia of the maxilla, Agenesis of lateral incisor, Selective tooth agenesis, Hypodontia, Anodon... |
OMIM:313500 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, High palate, Villous atrophy |
OMIM:601110 |
Scleromyxedema |
|
Abnormality of thyroid physiology, Transient ischemic attack, Abnormality of the kidney, Abnormal... |
ORPHA:167635 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Talipes equinovarus, Microphthalmia, Rocker bottom foot |
OMIM:616570 |
Nephroblastoma |
|
Nephroblastoma, Hematuria |
ORPHA:654 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Short phalanx of finger, V... |
OMIM:616894 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren... |
ORPHA:2237 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Enlarged kidney, Glomerular sclerosis, Elevated circulating alpha-fetoprotein... |
OMIM:276700 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter, Abnormality of tibia morphology |
ORPHA:2487 |
Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... |
OMIM:194080 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine kinase, Elevated ci... |
ORPHA:368 |
Galactosemia I |
|
Aminoaciduria, Increased level of galactonate in red blood cells, Hypergalactosemia, Increased le... |
OMIM:230400 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Toe syndactyly, Lop ear, Spina bifida occulta, Peripheral pulmonary ar... |
OMIM:300707 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Patent foramen ovale, Vascular dilatation, Atelectasis, Hypoplasia of the thymus, Pulmonary hypop... |
OMIM:613177 |
Whim Syndrome 2 |
|
Chronic neutropenia, Tetralogy of Fallot |
OMIM:619407 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Retinitis Pigmentosa 59 |
|
Renal insufficiency, Micropenis, Hepatomegaly |
OMIM:613861 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Genu varum, Macrotia, Arteriovenous malformation, Abnormal aortic arch morphology, Low-set, poste... |
ORPHA:1110 |
Fanconi Anemia, Complementation Group O |
|
Absent thumb, Stage 5 chronic kidney disease, Hypoplasia of the radius, Renal cyst, Abnormal hear... |
OMIM:613390 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Postaxial hand polydactyly, Syndactyly, Hydrocephalus |
OMIM:615938 |
Fanconi Anemia, Complementation Group F |
|
Patent ductus arteriosus, Vesicoureteral reflux, Absent thumb, Conductive hearing impairment, Leu... |
OMIM:603467 |
Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine |
ORPHA:94080 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Hypophosphatemia, Hypophosphatemic rickets, Low-mo... |
OMIM:300554 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Camptodactyly of finger, Conductive hearing impairment, Ventricular sep... |
OMIM:244300 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Proteinuria, Hematuria |
OMIM:616901 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Nephritis, Proteinuria |
ORPHA:182050 |
Cerebrooculonasal Syndrome |
|
Macrotia, Anophthalmia, Abnormal tragus morphology, Hypoplasia of penis, Postaxial hand polydacty... |
ORPHA:66625 |
Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Atrial septal defect, Hypospadias, Bilateral single transverse palmar ... |
ORPHA:1913 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Secundum atrial septal defect, Clinodactyly of the 5th finger, Pectus excav... |
OMIM:619910 |
Branchiootorenal Syndrome 1 |
|
Renal steatosis, Vesicoureteral reflux, Renal dysplasia, Renal malrotation, Polycystic kidney dys... |
OMIM:113650 |
Renal Cysts And Diabetes Syndrome |
|
Hyperuricemia, Stage 5 chronic kidney disease, Abnormality of the kidney, Glycosuria, Unilateral ... |
OMIM:137920 |
Orofaciodigital Syndrome Xvii |
|
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... |
OMIM:617926 |
Perlman Syndrome |
|
Nephroblastoma, Renal hamartoma, Interrupted aortic arch, Pancreatic islet-cell hyperplasia, Neph... |
OMIM:267000 |
Pallister-Hall-Like Syndrome |
|
Renal dysplasia, Toe syndactyly, Hydrocephalus, Hip dislocation, Pulmonary hypoplasia, Postaxial ... |
OMIM:241800 |
Meacham Syndrome |
|
Patent ductus arteriosus, Pulmonary sequestration, Conotruncal defect, Crossed fused renal ectopi... |
ORPHA:3097 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Aplasia/Hypoplasia of the earlobes, Spina bifida, Low-set, posteriorly rotated ears... |
ORPHA:1104 |
Alg3-Cdg |
|
Neural tube defect, Pulmonary hypoplasia, Coarctation of the descending aortic arch, Abnormal pin... |
ORPHA:79321 |
Refractory Celiac Disease |
|
Malabsorption, Jejunitis, Protein-losing enteropathy, Villous atrophy |
ORPHA:398063 |
Acquired Ichthyosis |
|
Renal insufficiency |
ORPHA:454 |
Keutel Syndrome |
|
Ventricular septal defect, Recurrent sinusitis, Pulmonary artery stenosis, Short distal phalanx o... |
ORPHA:85202 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ... |
OMIM:154230 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Macrotia, Ventricular septal defect, Hallux valgus, Short metacarpal, Renal cyst, Abnormal vena c... |
ORPHA:166035 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Hypothyroidism, Hypoplasia of the thymus, Ventricular septal defect, Bi... |
ORPHA:84064 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Villous atrophy, Ileus |
OMIM:304790 |
Chromosome 15Q25 Deletion Syndrome |
|
Dilatation of renal calices, Ventricular septal defect, Abnormal cardiac septum morphology, Coron... |
OMIM:614294 |
Rhyns Syndrome |
|
Nephronophthisis, Multicystic kidney dysplasia |
ORPHA:140976 |
Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Glomerular sclero... |
ORPHA:93126 |
Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis |
OMIM:185500 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney, Microphthalmia, Cryptorchidism |
OMIM:613730 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Central hypothyroidism, Tapered finger, Ventricular septal defect, Dilation of Virchow-Robin spac... |
OMIM:300998 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Common carotid artery aneurysm, Aortic arch aneurysm, Vascular dilatati... |
OMIM:613834 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Coronary artery fistul... |
OMIM:619343 |
Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro... |
ORPHA:439232 |
Cat Eye Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Ventricular septal defect, Renal agenesis, Atria... |
OMIM:115470 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci... |
OMIM:248190 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome |
OMIM:215250 |
Trisomy 8P |
|
Abnormal atrioventricular connection, Conductive hearing impairment, Clinodactyly of the 5th toe,... |
ORPHA:264450 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Hematuria, Nephritis |
OMIM:614034 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Renal cyst, Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias |
OMIM:614091 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Hepatomegaly |
ORPHA:289916 |
Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
Rhabdoid Tumor |
|
Renal neoplasm, Hematuria |
ORPHA:69077 |
Recombinant 8 Syndrome |
|
Patent ductus arteriosus, Camptodactyly of finger, Ventricular septal defect, Patellar aplasia, A... |
ORPHA:96167 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Ascending tubular aorta aneurysm, Abnormal common carotid artery morphology, D... |
ORPHA:449400 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... |
ORPHA:99845 |
Acro-Renal-Ocular Syndrome |
|
Conductive hearing impairment, Toe syndactyly, Short distal phalanx of the thumb, Short hallux, V... |
ORPHA:959 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abnormality of the kidney, Proteinuria, Hyperlipidemia, Hepatomegaly |
ORPHA:369 |
Mckusick-Kaufman Syndrome |
|
Patent ductus arteriosus, Urogenital sinus anomaly, Multicystic kidney dysplasia, Ventricular sep... |
ORPHA:2473 |
14Q22Q23 Microdeletion Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Short 4th metacarpal, Anophthalmia, Short foot... |
ORPHA:264200 |
Axial Osteomalacia |
|
Renal cyst, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Abno... |
ORPHA:1046 |
Caudal Regression Syndrome |
|
Vesicoureteral reflux, Arrhinencephaly, Renal agenesis, Pulmonary hypoplasia, Anal atresia, Abnor... |
ORPHA:3027 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Genu valgum, High palate, Abnormality of the ureter, Sandal gap, Arachnodactyly, Umbilical hernia |
ORPHA:1035 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared iliac wing, Hip ... |
OMIM:609945 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Hypoplasia of penis, Microphthalmia, Low-set... |
ORPHA:2328 |
Pierpont Syndrome |
|
Short toe, Short foot, Short finger, Large fleshy ears, Hearing impairment, Microphthalmia, Crypt... |
OMIM:602342 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Renal hypoplasia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney disease |
OMIM:617661 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery, Aniridia |
ORPHA:1065 |
Pentalogy Of Cantrell |
|
Abnormal pericardium morphology, Absent gallbladder, Encephalocele, Ventricular septal defect, Re... |
ORPHA:1335 |
Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
Inverted Duplicated Chromosome 15 Syndrome |
|
2-3 toe syndactyly, Precocious puberty, Ventricular septal defect, Hypogonadism, Clinodactyly of ... |
ORPHA:3306 |
Nephrolithiasis, Calcium Oxalate |
|
Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hematuria, Nephrolithiasis |
ORPHA:35710 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Anotia, Microtia, Foot polydactyly, Hydrocephalus, Coarctation of aort... |
ORPHA:268249 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:91138 |
Jeune Syndrome |
|
Nephronophthisis, Nephropathy, Renal insufficiency |
ORPHA:474 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Decreased retinol-bind... |
ORPHA:449395 |
Mosaic Trisomy 16 |
|
Patent ductus arteriosus, Ventricular septal defect, Short femoral neck, Short forearm, Clinodact... |
ORPHA:1708 |
Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Ventricular septal defect, Atrial septal defect, Renal cyst, Syndactyl... |
OMIM:263630 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Ventricular septal defect, Tapered fi... |
ORPHA:435638 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Conductive hearing impairment, Ventricular septal defect, Large hands, Joint contracture of the h... |
OMIM:280000 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Microphthalmia, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Patent foramen ovale, 2-3 toe syndactyly, Lens coloboma, Brachydactyly, Small thenar eminence, Mi... |
OMIM:618914 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Patent ductus arteriosus, Triphalangeal thumb, Sensorineural hearing impairment, Ventricular sept... |
OMIM:220500 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Meckel Syndrome, Type 10 |
|
Postaxial polydactyly, Anencephaly, Camptodactyly, Postaxial foot polydactyly, Renal cyst, Hyposp... |
OMIM:614175 |
Stevenson-Carey Syndrome |
|
Joint contracture of the hand, Recurrent urinary tract infections, Left superior vena cava draini... |
OMIM:611961 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Splenomegaly, Hepatomegaly |
ORPHA:100024 |
Kleefstra Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Thickened helices, Recurrent respiratory infect... |
ORPHA:261494 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Genu valgum, Hypoplasia of penis, Hypospadias, Cryptorchidism, Tetralogy of Fallot, Aplasia/Hypop... |
ORPHA:1381 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... |
OMIM:223900 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Congenital Heart Defects, Multiple Types, 2 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Bicuspid aortic valve, Aortic aneurysm, A... |
OMIM:614980 |
Sifrim-Hitz-Weiss Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Tapered finger, Ventricular septal defect, Short... |
OMIM:617159 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Abnormal metaphysis morphology, Proximal placement of thumb, Microphth... |
ORPHA:93267 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Volvulus, Mega... |
OMIM:619350 |
Trisomy 17P |
|
Patent ductus arteriosus, Polycystic kidney dysplasia, Hypoplasia of penis, Urethral stenosis, Ur... |
ORPHA:261290 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis |
OMIM:608022 |
Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Ventricular septal defect, Lymphopenia, Pe... |
OMIM:618624 |
Temtamy Syndrome |
|
Aortic aneurysm, Hip dislocation, Lop ear, Short 2nd toe, Microphthalmia, Brachydactyly, Low-set ... |
OMIM:218340 |
Verheij Syndrome |
|
Short 5th finger, Abnormal cardiac septum morphology, Clinodactyly, Hip dislocation, Renal agenes... |
OMIM:615583 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Cho... |
OMIM:614886 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Ventric... |
ORPHA:141127 |
Glucoglycinuria |
|
Glycosuria, Hyperglycinuria |
OMIM:138070 |
Carpenter Syndrome |
|
Patent ductus arteriosus, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial f... |
ORPHA:65759 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Villous atrophy, Colitis |
OMIM:209920 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypospadias, Preaxial polydactyly, Delayed puberty, Microphthalmia, ... |
ORPHA:141333 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent ear helix, Anophthalmia, Large earlobe |
ORPHA:411986 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Retrognathia, High palate, Thick lower lip vermilion, Micrognathia, Hypodontia, Short philtrum, E... |
OMIM:618342 |
Marden-Walker Syndrome |
|
Joint contracture of the hand, Camptodactyly, Radioulnar synostosis, Pulmonary hypoplasia, Hyposp... |
OMIM:248700 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Atrioventricular canal defect, Thickened helices, Supernumerary nipple, Coarctation of aorta, Dex... |
OMIM:618929 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
Fanconi Anemia, Complementation Group I |
|
Vesicoureteral reflux, Patent foramen ovale, Conductive hearing impairment, Absent thumb, Ventric... |
OMIM:609053 |
Fraser Syndrome 1 |
|
Conductive hearing impairment, Pulmonary hypoplasia, Cupped ear, Atresia of the external auditory... |
OMIM:219000 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Microtia, Pulmonary lymphangiectasia, Camptodactyly, Pericardial lymphangiectasia, Syndactyly, He... |
OMIM:616006 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1834 |
Alagille Syndrome |
|
Ventricular septal defect, Nephrotic syndrome, Renal hypoplasia/aplasia, Clinodactyly of the 5th ... |
ORPHA:52 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Tapered finger, Camptodactyly, Pulmonary hypoplasia, Overlapping toe, Hearing impairment, Talipes... |
OMIM:619148 |
Primary Intestinal Lymphangiectasia |
|
Functional abnormality of the gastrointestinal tract, Increased stool alpha1-antitrypsin concentr... |
ORPHA:90362 |
Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormality of the bladder |
ORPHA:1839 |
Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
Tarp Syndrome |
|
Short sternum, Postaxial polydactyly, Microtia, Hypoplasia of the radius, Talipes equinovarus, Cl... |
OMIM:311900 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Tetralogy of Fallot, Atrial septal defect |
OMIM:601322 |
Pierpont Syndrome |
|
Short toe, Macrotia, Short finger, Excessive wrinkling of palmar skin, Microphthalmia, Cryptorchi... |
ORPHA:487825 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction |
OMIM:610805 |
Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly, Microcephaly |
OMIM:271109 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Microphthalmia |
ORPHA:2432 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the fibula, Ventricular septal defect, Finger syndactyly, Short long bone, ... |
ORPHA:2256 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Microtia, third degree, Anotia, Spina bifida, Aqueductal stenosis, Arrhinencephaly,... |
ORPHA:3412 |
Alg1-Cdg |
|
Abnormality of the kidney, Renal insufficiency, Hypoalbuminemia, Nephrotic syndrome |
ORPHA:79327 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Dupuytren contracture, Abnormal hand morphology, Ventricular septal defect |
OMIM:122850 |
Gaucher Disease, Type Ii |
|
Anemia, Recurrent aspiration pneumonia, Double aortic arch, Thrombocytopenia, Bronchiolitis, Sple... |
OMIM:230900 |
Holt-Oram Syndrome |
|
Absent thumb, Abnormal carpal morphology, Secundum atrial septal defect, Pectus excavatum, Phocom... |
OMIM:142900 |
Giant Cell Arteritis |
|
Abdominal aortic aneurysm, Diabetes insipidus, Abnormal pleura morphology, Conductive hearing imp... |
ORPHA:397 |
Microphthalmia With Brain And Digit Anomalies |
|
Sensorineural hearing impairment, Finger syndactyly, Anophthalmia, Postaxial foot polydactyly, Mi... |
ORPHA:139471 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Ventricular septal defect, Bilateral lung agenesis, Adrenal gland agen... |
OMIM:611812 |
Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
Braddock-Carey Syndrome 1 |
|
Macrotia, Multicystic kidney dysplasia, Ventricular septal defect, Small hand, Aortic valve prola... |
OMIM:619980 |
Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Anomalous origin of ri... |
OMIM:610338 |
Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Left ventricular hypertroph... |
ORPHA:320 |
Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Renal insufficiency |
OMIM:300653 |
Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Renal cyst, Bile duct proliferation, Microp... |
OMIM:603194 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Autoinflammatory-Pancytopenia Syndrome |
|
Proteinuria, Membranoproliferative glomerulonephritis, Hepatosplenomegaly |
OMIM:619858 |
Cystinosis |
|
Aminoaciduria, Hypophosphatemia, Hypokalemia, Nephropathy, Proteinuria, Renal insufficiency, Rena... |
ORPHA:213 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Renal artery stenosis, Proteinuria |
OMIM:209010 |
Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia |
ORPHA:3375 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Hip dislocation... |
OMIM:274000 |
Ramon Syndrome |
|
Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palate, Delayed eruption of teeth |
ORPHA:3019 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ... |
OMIM:600740 |
Joubert Syndrome 35 |
|
Renal fibrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Phace Association |
|
Patent ductus arteriosus, Anomalous branches of internal carotid artery, Vascular dilatation, Ven... |
OMIM:606519 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia, Nocturia |
OMIM:223360 |
Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
Ritscher-Schinzel Syndrome 2 |
|
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly, Camptodactyly, Atrial septal d... |
OMIM:300963 |
Meckel Syndrome 14 |
|
Pneumothorax, Polycystic kidney dysplasia, Pulmonary hypoplasia, Postaxial foot polydactyly, Synd... |
OMIM:619879 |
Brachydactyly, Type B1 |
|
Ventricular septal defect, Joint contracture of the hand, Short long bone, Cutaneous finger synda... |
OMIM:113000 |
Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Mitral atresia, Mitral stenosis, Maternal diabetes, Atrial septal defec... |
ORPHA:2248 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Decreased serum creatinine, Hypocystinemia |
OMIM:617744 |
Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect |
OMIM:270460 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Atrial septal defect, Sandal gap, Tetralogy of Fallot, Posteriorly rotat... |
OMIM:300887 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:254900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Ventricular septal defect, Talipes equinovarus, Camptodactyly, Atrial septa... |
OMIM:301039 |
Meckel Syndrome, Type 5 |
|
Anencephaly, Postaxial foot polydactyly, Renal cyst, Bile duct proliferation, Microphthalmia, Pos... |
OMIM:611561 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Abnormal heart morphology,... |
ORPHA:261183 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Aplasia/Hypoplasia involving the metacarpal bones, Decre... |
OMIM:157900 |
Muckle-Wells Syndrome |
|
Renal amyloidosis, Renal insufficiency, Elevated circulating C-reactive protein concentration |
OMIM:191900 |
Heart-Hand Syndrome, Slovenian Type |
|
Clinodactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Brac... |
OMIM:610140 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Anal atresia, Ureteral dysgenesis, Intrauterine growth retarda... |
OMIM:274265 |
Short-Rib Thoracic Dysplasia 12 |
|
Pulmonary hypoplasia, Holoprosencephaly, Short palm, Splenomegaly, Posteriorly rotated ears, Pate... |
OMIM:269860 |
Orotic Aciduria |
|
Oroticaciduria, Orotic acid crystalluria, Hematuria |
OMIM:258900 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Tapered finger, Ventricular septal defect, Interphalangeal thumb joint ... |
OMIM:613870 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal tubular acidosis, Renal dysplasia, Renal cyst, Hepatomegaly, Renal hypoplasia, Renal insuff... |
OMIM:614922 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus |
ORPHA:2377 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Splenomegaly, Hepatomegaly, Nephrotic syndrome |
ORPHA:834 |
Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Abnormal pelvis bone ossification, Multiple glomerular cysts, Nephronop... |
ORPHA:1505 |
Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Ascending tubular aorta aneurysm, Camptodactyly, Ascending aortic dissectio... |
OMIM:610168 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy |
OMIM:619510 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Atrial septal defect |
OMIM:253300 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Acute kidney injury, Hemoglobinuria, Glycosuria, Unconjugated hyperbil... |
ORPHA:447 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal aortic morphology, Interrupted aortic arch, Coarctation of aorta, Aortic valve stenosis,... |
ORPHA:2396 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Double outlet right ventricle, Decreased response to growth hormone sti... |
OMIM:618223 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted lower lip vermilion, Microdontia, Everted upper lip vermilion, Delayed eruption of teeth |
ORPHA:181 |
Pulmonary Hypertension, Primary, 1 |
|
Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Pulmonary aterial intimal fibro... |
OMIM:178600 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Hydrocephalus, Hypoplasia of penis, Posteriorly rotated ears, Mi... |
ORPHA:899 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopamine, Elevate... |
ORPHA:276621 |
Peutz-Jeghers Syndrome |
|
Stomach cancer, Abnormality of the gastrointestinal tract, Renal cell carcinoma, Esophageal neopl... |
ORPHA:2869 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Vesicoureteral reflux, Mitral atresia, Abnormal cardiac septum morphology, Toe syndactyly, Hypopl... |
ORPHA:140952 |
2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Abnormal aortic morphology, Conductive hearing impairment, Multicystic kidney dys... |
ORPHA:1001 |
Microphthalmia, Syndromic 3 |
|
Patent ductus arteriosus, Anterior pituitary hypoplasia, Sensorineural hearing impairment, Anopht... |
OMIM:206900 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
Weiss-Kruszka Syndrome |
|
Horizontal crus of helix, Ventricular septal defect, Microtia, Bicuspid aortic valve, Left ventri... |
OMIM:618619 |
Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Double outlet right ventricle, Hypothyroidism, Neonatal insulin-dependent... |
ORPHA:1667 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Aortic atherosclerotic lesion, Ventricular hypertrophy, Papillary renal cel... |
ORPHA:363618 |
Bresek Syndrome |
|
Vesicoureteral reflux, Hypoplasia of the bladder, Renal dysplasia, Decreased testicular size, Hyd... |
ORPHA:85284 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Finger syndactyly, Clinodactyly of the 5th finger, Radioulnar synostosi... |
ORPHA:3268 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Nephrotic syndrome, Glomerular sclerosis, Glomerulonephritis, Hypospadias, Proteinuria |
OMIM:619428 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Aplasia/Hypoplasia of the... |
ORPHA:84 |
Xanthinuria, Type I |
|
Hyperxanthinemia, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis |
OMIM:278300 |
8P Inverted Duplication/Deletion Syndrome |
|
Macrotia, Precocious puberty, Aplasia/Hypoplasia of the gallbladder, Hip dislocation, Clinodactyl... |
ORPHA:96092 |
Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, Hypothyroidism, Renal dysplasia, 2-4 finger syndactyly, Clinodactyly of the 5... |
OMIM:107480 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Hypodontia, Advanced eruption of teeth, Abnormal oral frenulum morphology, Solitar... |
ORPHA:952 |
3C Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Abnormal mitral valve morphology, Low-s... |
ORPHA:7 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Mitral stenosis, Bicusp... |
OMIM:109730 |
Teebi-Shaltout Syndrome |
|
Small earlobe, Hypoplastic helices, Ventricular septal defect, Caudal appendage, Camptodactyly, M... |
OMIM:272950 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Senior-Loken Syndrome 3 |
|
Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis |
OMIM:606995 |
Wahab Syndrome |
|
Short foot, Short metacarpal, Clinodactyly, Camptodactyly, Adducted thumb, Syndactyly, Short thum... |
OMIM:615170 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Renal Agenesis |
|
Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena... |
ORPHA:411709 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Ventricular septal defect, Toe syndactyly, Bicuspid aortic valve, Supernumerary ni... |
OMIM:100300 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Metatarsus adductus, Pectus excavatum, Short... |
OMIM:212720 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Decreased response to growth hormone stimulation test, Renal dysplasia,... |
OMIM:617260 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Hyperammonemia, Splenomegaly, Hepatomegaly |
ORPHA:79312 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Myoglobinuria, Hyperbilirubinemia |
ORPHA:713 |
Viss Syndrome |
|
Aortic tortuosity, Hypothyroidism, Ascending tubular aorta aneurysm, Pneumothorax, Hip dislocatio... |
OMIM:619472 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Cardiomegaly, Proteinuria, Increased circulating ferritin concentration |
OMIM:618886 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Camptodactyly of finger, Finger syndactyly, Spina bifida occulta, Anomalous pulmonar... |
ORPHA:2311 |
Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Bone marrow hypocellularity, Thrombocytopenia, Heari... |
OMIM:227646 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Urinary bladder inflammation, ... |
ORPHA:79403 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Foot polydactyly, Abnormality of the humerus... |
ORPHA:3186 |
Gordon Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Clinodactyly of the 5th finger, Pectus excavatum, Cry... |
ORPHA:376 |
Ogden Syndrome |
|
Macrotia, Ventricular septal defect, Broad hallux, Pulmonary artery stenosis, Cryptorchidism, Low... |
ORPHA:276432 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Preaxial foot polydactyly, Hydrocephalu... |
OMIM:175700 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septa... |
OMIM:618974 |
Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Preaxial hand polydactyly, Finger syndactyly, Abnormal cardiac sept... |
ORPHA:887 |
Congenital Toxoplasmosis |
|
Anemia, Hydrocephalus, Lymphadenopathy, Microphthalmia, Cardiomegaly, Thrombocytopenia, Hearing i... |
ORPHA:858 |
Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Elbow dislocation, Pectus excavatum, Hearing impairment,... |
ORPHA:1507 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Ventricular septal defect, Finger syndactyly, Left superior vena cava drainin... |
ORPHA:464738 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Macrotia, Ventricular septal defect, Bicuspid aor... |
ORPHA:329224 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... |
OMIM:300400 |
Sandestig-Stefanova Syndrome |
|
Perimembranous ventricular septal defect, Underdeveloped tragus, Clinodactyly, Camptodactyly, Mus... |
OMIM:618804 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Syndactyly, Microphthalmia, Brachydactyly, Hearing impairment |
OMIM:610023 |
Amelogenesis Imperfecta, Type Ig |
|
Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency |
OMIM:204690 |
Syndactyly Type 3 |
|
Camptodactyly of finger, Short toe, Finger syndactyly |
ORPHA:93404 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc... |
ORPHA:567546 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Cerebral hemorrhage, Bicuspid aortic valve, Short finger, Clinodactyly,... |
OMIM:300049 |
Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:611560 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, H... |
OMIM:613090 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Acute kidney injury, Exercise-induced myoglobinuria, Elevated creatine kinase after exercise, Hyp... |
ORPHA:284426 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Sensorineural hearing impairment, Ventricular septal defect, Sideroblastic anemia,... |
OMIM:249270 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis, Cutaneous finger syndactyly |
OMIM:263450 |
Ciliary Dyskinesia, Primary, 20 |
|
Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Situs inversus totalis, Dextrocardia, R... |
OMIM:615067 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Metaphyseal rarefaction, Elbow flexion contracture, Camptod... |
OMIM:601559 |
Hyperprolinemia Type 2 |
|
Prolinuria, Hyperalaninemia, Hyperglycinemia, Increased urine alpha-ketoglutarate concentration, ... |
ORPHA:79101 |
Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Asplenia, Hypoplasia of the bladder, Abnormal cardiac septum morphology,... |
OMIM:249000 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
Ellis Van Creveld Syndrome |
|
Atrioventricular canal defect, Abnormality of the ureter, Genu valgum, Ventricular septal defect,... |
ORPHA:289 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Renal dysplasia, Metatarsus adductus, Pectus excavatum, Abnormality of t... |
ORPHA:2461 |
Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Abnormal metacarpal morphology, Abnormal lung lobation, Pulmonary hypopl... |
ORPHA:2631 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Unilateral vertebral artery hypoplasia, Myelomeningocele, Aplasia of posterior communicating arte... |
OMIM:613686 |
Bor Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junc... |
ORPHA:107 |
Catel-Manzke Syndrome |
|
Short toe, Genu valgum, Ventricular septal defect, Short metacarpal, Talipes equinovarus, Camptod... |
OMIM:616145 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Absent gallbladder, Hypoplastic pubic bone, Microtia, Short long bone, Narrow greate... |
OMIM:617925 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary c... |
OMIM:613159 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Transketolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Increased level of rib... |
ORPHA:488618 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base... |
OMIM:613550 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent ductus arteriosus, Patent foramen ovale, Sensorineural hearing impairment, Ventricular sep... |
ORPHA:500159 |
Baraitser-Winter Syndrome 1 |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Low-set ears, Bicuspid aortic valve, ... |
OMIM:243310 |
Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Pancreatic cysts, Multicystic kidney dysplasia, Stage 5 chronic kidney ... |
OMIM:267010 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Patent ductus arteriosus, Nephrotic syndrome, Enlarged kidney, Hepatosplenomegaly, Hypoalbuminemi... |
ORPHA:505248 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Microtia, 3-4 finger cutaneous syndactyly, Pulmonary hypoplasia, Super... |
OMIM:612530 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polyc... |
ORPHA:731 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Hip dysplasia, Microphthalmia, Abnormal localization of kidney, Hearing... |
ORPHA:195 |
Birt-Hogg-Dube Syndrome |
|
Renal cell carcinoma, Renal neoplasm, Renal cyst |
OMIM:135150 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Glomerular sclerosis, Elevated circulating creatine kinase concentration, Pro... |
OMIM:607426 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Patchy alopecia, Villous atrophy |
OMIM:606367 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Bronchiolitis obliterans,... |
OMIM:617241 |
Coach Syndrome 1 |
|
Multiple small medullary renal cysts, Vascular dilatation, Encephalocele, Stage 5 chronic kidney ... |
OMIM:216360 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Nocturia, Elevated ... |
ORPHA:230 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephroblastoma, Nephropathy, Renal insufficiency, Hypospadias |
OMIM:194072 |
Pediatric Systemic Lupus Erythematosus |
|
Nephrotic syndrome, Hematuria, Nephritis, Proteinuria, Abnormality of the urinary system, Renal i... |
ORPHA:93552 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Short toe, Conductive hearing impairment, Short 5th metacarpal, Perimembranous ventricular septal... |
OMIM:617877 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
Glanzmann Thrombasthenia |
|
Macroscopic hematuria |
ORPHA:849 |
Aminopterin Syndrome Sine Aminopterin |
|
High palate, Joint contracture of the hand, Clinodactyly, Brachydactyly, Syndactyly, Microcephaly... |
OMIM:600325 |
Suleiman-El-Hattab Syndrome |
|
Patent foramen ovale, Polydactyly, Ventricular septal defect, Clinodactyly, Atrial septal defect,... |
OMIM:618950 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conductive hearing impairment, Thyroid lymphangiectasia, Pericardial effusion, Camptodactyly, Per... |
OMIM:235510 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Short tibia, Macrotia, Encephalocele, Short long bone, Flat acetabular ... |
OMIM:616300 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Increased axial length of the globe, Ventricular septal defect, Pineal cyst, Hip dysplasia, Metat... |
ORPHA:513456 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ... |
ORPHA:99125 |
Arterial Tortuosity Syndrome |
|
Coxa valga, Abnormal carotid artery morphology, Hip dislocation, Hypertrophic cardiomyopathy, Pul... |
ORPHA:3342 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Cystathioninuria, Hematuria, Nephropathy, Prot... |
OMIM:277400 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Steatorrhea, Intestinal ... |
OMIM:615237 |
Ciliary Dyskinesia, Primary, 25 |
|
Chronic bronchitis, Bronchiectasis, Polysplenia, Recurrent sinusitis, Recurrent pneumonia, Situs ... |
OMIM:615482 |
Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia, Renal insufficiency |
OMIM:177200 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Abnormality of the ischium, Epidural hemorrhage, Enlarged kidney, Peric... |
ORPHA:464329 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
Poland Syndrome |
|
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly, Dext... |
OMIM:173800 |
Primary Hyperoxaluria |
|
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... |
ORPHA:416 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal right ventricle morphology, Bifid ureter, Camptodactyly, Metatarsus adductus, Spina bifi... |
ORPHA:500095 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:36412 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Microtia, Renal hypoplasia/aplasia, Brachydactyly, Abnormality of the ... |
ORPHA:1770 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia |
OMIM:613091 |
Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst, Hepatomegaly, Increased circulating th... |
OMIM:610199 |
Microphthalmia, Isolated 4 |
|
Absent testis, Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Renal Nutcracker Syndrome |
|
Proteinuria, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia, Patent ductus arte... |
OMIM:606232 |
Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Patent ductus arteriosus, Wrist flexion contracture, Congenital finger flex... |
OMIM:121050 |
Arterial Tortuosity Syndrome |
|
Aortic tortuosity, Aortic root aneurysm, Ventricular hypertrophy, Macrotia, Ischemic stroke, Pect... |
OMIM:208050 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Hemophilia B |
|
Hematuria |
ORPHA:98879 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Hepatosp... |
OMIM:619644 |
Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Nephropathy, Hepatomegaly, Proteinuria, Renal insufficiency |
ORPHA:330001 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Dental malocclusion, Mandibular prognathia, Natal tooth, Thick vermilion border |
OMIM:601957 |
Marfan Syndrome |
|
Aortic tortuosity, Meningocele, Protrusio acetabuli, Ascending tubular aorta aneurysm, Increased ... |
ORPHA:558 |
Cardiac Valvular Dysplasia 2 |
|
Subvalvular aortic stenosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Bicuspid ... |
OMIM:620067 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Hydrocephalus, Abnormal localizati... |
ORPHA:83473 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Umbilical hernia, Ventricu... |
OMIM:618454 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Diamond-Blackfan Anemia 6 |
|
Patent ductus arteriosus, Ventricular hypertrophy, Triphalangeal thumb, Ventricular septal defect... |
OMIM:612561 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Increased circulating creatine kina... |
OMIM:617595 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Abnormally large globe, Macrotia, Ventricular septal defect, Unilateral renal agenesis, Cryptorch... |
OMIM:618504 |
Methimazole Embryofetopathy |
|
Hypothyroidism, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Hypo... |
ORPHA:1923 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Hyperammonemia, Hepatomegaly |
ORPHA:27 |
Silver-Russell Syndrome 1 |
|
Nephroblastoma, Short middle phalanx of the 5th finger, Congenital posterior urethral valve, Clin... |
OMIM:180860 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Hepat... |
OMIM:256550 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Exaggerated cupid's bow, Delayed eruption of permanent teeth, Wide mouth, Thick vermilion border |
OMIM:618506 |
Desbuquois Syndrome |
|
Camptodactyly of finger, Coxa valga, Ventricular septal defect, Coxa vara, Small hand, Radioulnar... |
ORPHA:1425 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Patent ductus arteriosus, Epiphyseal stippling of toe phalanges, Ventricular septal defect, Stipp... |
ORPHA:79345 |
Cousin Syndrome |
|
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Camptodactyly, Dislocated... |
OMIM:260660 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Hematuria |
ORPHA:90060 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Anencephaly, Hydrocephalus, Ectopia cordis, Pulmonary hypoplasia, Renal... |
OMIM:313850 |
Roifman Syndrome |
|
Short toe, Hip contracture, Ventricular septal defect, Short metacarpal, Short digit, Clinodactyl... |
OMIM:616651 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septal defect, Dextroca... |
OMIM:618067 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria |
ORPHA:79 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia |
OMIM:232800 |
Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Vesicoureteral reflux, Triphalangeal thumb, Ventricular septal defect, ... |
OMIM:612562 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Flared metaphysis, Advanced tarsal ossification, Preductal... |
OMIM:215045 |
Peters Plus Syndrome |
|
Conductive hearing impairment, Abnormal cardiac septum morphology, Toe syndactyly, Anterior hypop... |
ORPHA:709 |
Hydrolethalus Syndrome 1 |
|
Preaxial hand polydactyly, Upper limb undergrowth, Ventricular septal defect, Arrhinencephaly, An... |
OMIM:236680 |
Aorto-Ventricular Tunnel |
|
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Aorto-ventricular tunn... |
ORPHA:3400 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion, Thin upper lip ... |
OMIM:619736 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypothyroidism, Multicystic kidney dysplasia, Tapered finger, Microtia, Clinodactyly of the 5th f... |
OMIM:618829 |
Total Anomalous Pulmonary Venous Return 1 |
|
Dextrocardia, Recurrent respiratory infections, Total anomalous pulmonary venous return |
OMIM:106700 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating phytanic acid concentration, Polycystic kidney dysplasia, Increased circulat... |
OMIM:614866 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Hematuria |
OMIM:192315 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Pulmonary hypoplasia, Absent uvula, O... |
OMIM:616531 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Hydrocep... |
ORPHA:380 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Steep acetabular roof, Flexion contracture of... |
OMIM:610758 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Clinodactyly of the 5th finger, Ventricular septal defect, Sandal gap |
ORPHA:2515 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth |
OMIM:615905 |
Tarp Syndrome |
|
Abnormal antihelix morphology, Pulmonary hypoplasia, Prominent antihelix, Pectus excavatum, Hypop... |
ORPHA:2886 |
Holoprosencephaly 13, X-Linked |
|
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:301043 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Microphthalmia, Split h... |
ORPHA:2117 |
Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, High palate, Delayed eruption of teeth, Micrognathia, Narrow mouth, Ma... |
OMIM:613849 |
Nephrogenic Diabetes Insipidus |
|
Hyposthenuria, Enuresis nocturna, Hydroureter, Renal insufficiency, Hypernatremia, Functional abn... |
ORPHA:223 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Nephroblastoma, Abnormal aortic morphology, Multicystic kidney dyspl... |
ORPHA:1052 |
De Barsy Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Coxa vara, Talipes equinovarus, Recurrent si... |
ORPHA:2962 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Abnormal renal insterstitial morphology, Stage 5 chronic kidney diseas... |
ORPHA:84081 |
Craniofacial Dyssynostosis With Short Stature |
|
Patent ductus arteriosus, Ventricular septal defect, Hydrocephalus, Abnormal location of ears, Hy... |
OMIM:218350 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida, Renal hypoplasia/aplasia, Intestinal duplication, Ureteral duplic... |
ORPHA:1756 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Mitral valve prolapse, Hydrocephalus, Absent nipple, Pectus excavatum, ... |
OMIM:104350 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:1816 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Hypoplastic pubic bone, Microtia, Spin... |
ORPHA:2839 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, T lympho... |
OMIM:619313 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Hydroureter, Coarctation of aorta, Cryptorchidism, Pulmonic stenosis |
OMIM:616559 |
Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Macrotia, Bifid ureter, Ventricular septal defect, Sensorineural hearing impairme... |
OMIM:617107 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly |
OMIM:200995 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis, Elevated uri... |
ORPHA:29072 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Patent ductus arteriosus, Restrictive cardiomyopathy, Hydroureter, Hypoplasia of the ulna, Renal ... |
OMIM:615398 |
Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Encephalocele |
ORPHA:217 |
Cockayne Syndrome Type 1 |
|
Increased blood urea nitrogen, Renal insufficiency, Proteinuria, Hepatomegaly |
ORPHA:90321 |
Pallister-Hall Syndrome |
|
Atrioventricular canal defect, Precocious puberty, Short 4th metacarpal, Gonadotropin deficiency,... |
ORPHA:672 |
Joubert Syndrome 22 |
|
2-3 toe syndactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Microphthalmia, Renal... |
OMIM:615665 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly, Azoospermia, Microcephaly |
OMIM:241000 |
Joubert Syndrome 21 |
|
Sensorineural hearing impairment, Anophthalmia, Pulmonary hypoplasia, Renal cyst, Occipital encep... |
OMIM:615636 |
C Syndrome |
|
Patent ductus arteriosus, Renal cortical cysts, Ventricular septal defect, Short metacarpal, Toe ... |
OMIM:211750 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Cardiomegaly, Renal cortical cysts, Pancreatic hyperplasia... |
OMIM:130650 |
Ring Chromosome 10 Syndrome |
|
Abnormal antihelix morphology, Tapered finger, Renal hypoplasia/aplasia, Large earlobe, Pectus ex... |
ORPHA:1438 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
3-Methylglutaconic aciduria, Neonatal death, Pulmonary hypoplasia |
OMIM:615228 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Stage 5 chronic kidney disease, Glomerular subepithelial immune-... |
OMIM:616307 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis |
OMIM:607944 |
Ventriculomegaly With Cystic Kidney Disease |
|
Vascular dilatation, Ventricular septal defect, Renal corticomedullary cysts, Hydrocephalus, Rena... |
OMIM:219730 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Hypoplasia of penis, Clinodactyly of the 5th finger, Abn... |
ORPHA:3409 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Increased circulating very long-chain fatty acid concentration, Hepatomegaly |
OMIM:614862 |
Ruvalcaba Syndrome |
|
Hematuria, Abnormal localization of kidney |
ORPHA:3121 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Renal insufficiency, Proteinuria |
ORPHA:1307 |
Babesiosis |
|
Renal insufficiency, Splenomegaly, Hepatomegaly |
ORPHA:108 |
Jalili Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology |
ORPHA:1873 |
Townes-Brocks Syndrome |
|
Hypothyroidism, Abnormal cardiac septum morphology, Toe syndactyly, Absent toe, Hearing impairmen... |
ORPHA:857 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Aplasia/Hypoplasia of the lungs, Abnormality of the upper urinary tract, Split... |
ORPHA:2145 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria |
ORPHA:86818 |
3Q29 Microdeletion Syndrome |
|
Patent ductus arteriosus, Subvalvular aortic stenosis, Macrotia, Tapered finger, Clinodactyly of ... |
ORPHA:65286 |
Caroli Disease |
|
Polycystic kidney dysplasia, Abnormal circulating alpha-fetoprotein concentration, Hepatomegaly, ... |
ORPHA:53035 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic val... |
ORPHA:284169 |
Cloacal Exstrophy |
|
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Hydroureter, Renal hypoplasia/aplasia, Hyp... |
ORPHA:93929 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
Bardet-Biedl Syndrome 6 |
|
Renal cyst, Hypospadias |
OMIM:605231 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... |
ORPHA:2141 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, Macrotia, Ventricular septal defect, Clinodactyly, Camptodactyly, Syndactyl... |
ORPHA:369891 |
X Small Rings |
|
Aortic root aneurysm, 2-3 toe syndactyly, Upper limb undergrowth, Tapered finger, Ventricular sep... |
ORPHA:96201 |
Atresia Of Urethra |
|
Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf... |
ORPHA:105 |
Gapo Syndrome |
|
Tubulointerstitial fibrosis, Hepatomegaly |
OMIM:230740 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal... |
OMIM:616276 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Finger syndactyly, Microphthalmia, Atrial septal defect |
ORPHA:261272 |
Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Short 1st metacarpal, Microtia, Short first met... |
ORPHA:2438 |
Meier-Gorlin Syndrome 7 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Urethral stricture, Pulmonary hypoplasia, Breast aplas... |
OMIM:617063 |
Char Syndrome |
|
Patent ductus arteriosus, Mesoaxial foot polydactyly, Ventricular septal defect, Short middle pha... |
ORPHA:46627 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Ventricular septal defect, Lymphopenia, Congenital pulmonary airway mal... |
OMIM:243150 |
Focal Dermal Hypoplasia |
|
Short phalanx of finger, Bifid ureter, Short 4th metacarpal, Toe syndactyly, Supernumerary nipple... |
OMIM:305600 |
Cenani-Lenz Syndactyly Syndrome |
|
Hypoplasia of the radius, Renal agenesis, Radioulnar synostosis, Hypoplasia of the ulna, Broad ha... |
OMIM:212780 |
Congenital Myopathy 12 |
|
Arachnodactyly, Joint contracture of the hand, Camptodactyly, Pulmonary artery stenosis, Overlapp... |
OMIM:612540 |
Relapsing Fever |
|
Abnormality of the urinary system, Hematuria, Acute kidney injury |
ORPHA:91547 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Atrophic gastritis, Villous atrophy, Colitis |
OMIM:614700 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tapered finger, Recurrent aspiration pneumonia, Large fleshy ears, Hypertrophy of the urinary bla... |
ORPHA:280633 |
Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hip dislocation, Camptodactyly, Glomerular sc... |
OMIM:617729 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Increased intestinal transit time, Villous atrophy |
OMIM:619377 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Hepatic cysts, Aplasia of the bladder, Anencephaly, Hydrocephalus, Pulmonary ... |
OMIM:612284 |
Weaver Syndrome |
|
Camptodactyly of finger, Macrotia, Finger syndactyly, Hypoplasia of penis, Broad thumb, Sandal ga... |
ORPHA:3447 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Vesicoureteral reflux, Shortening of all distal phalanges of the fingers, Atrial septal defect, B... |
OMIM:614749 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Abnormal cardiac septum morphology, Renal hypoplasia/aplasia, Hydrocephalus, Hypop... |
ORPHA:2166 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Macrotia, Clinodactyly, Cryptorchidism, Low-set ears, Transposition of the ... |
OMIM:616789 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Type II diabetes mellitus, Synostosis of carpal bones, Microphthalmi... |
ORPHA:3191 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Anemia, Complete duplication of thumb phalanx, Reticulocytopenia, Leukemia, Renal a... |
OMIM:227650 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Acute kidney injury, Renal cell carc... |
ORPHA:93111 |
Coffin-Siris Syndrome 4 |
|
Patent ductus arteriosus, Mitral atresia, Short 5th finger, Ventricular septal defect, Short phal... |
OMIM:614609 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Anophthalmia, Talipes equinovarus, Tricuspid valve prolapse, Aniridia, U... |
ORPHA:1101 |
Split-Hand/Foot Malformation 4 |
|
Triphalangeal thumb, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the... |
OMIM:605289 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, Anemia, Megaloblastic anemia, Neutropenia, Cystathioninuria, Microtia, ... |
OMIM:277380 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Abnormal thumb morphology, Microphthalmia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:611884 |
Acropectorovertebral Dysplasia |
|
Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
Chromosome 18Q Deletion Syndrome |
|
Ascending tubular aorta aneurysm, Conductive hearing impairment, Toe syndactyly, Overlapping toe,... |
OMIM:601808 |
Alagille Syndrome 1 |
|
Vesicoureteral reflux, Multiple small medullary renal cysts, Macrotia, Renal tubular acidosis, Ve... |
OMIM:118450 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia, Congenital pseudoarthrosis of the clavicle |
ORPHA:66630 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Anemia, Complete duplication of thumb phalanx, Reticulocytopenia, Leukemia, Renal a... |
OMIM:600901 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616629 |
Loeys-Dietz Syndrome 1 |
|
Aortic root aneurysm, Patent ductus arteriosus, Pulmonary artery aneurysm, Dilatation of the duct... |
OMIM:609192 |
Cofs Syndrome |
|
Camptodactyly of finger, Sensorineural hearing impairment, Microphthalmia, Hypogonadism |
ORPHA:1466 |
Jacobsen Syndrome |
|
Toe syndactyly, Hip dislocation, Bone marrow hypocellularity, Thrombocytopenia, Short toe, Multic... |
ORPHA:2308 |
Fraser Syndrome |
|
Urethral atresia, Multicystic kidney dysplasia, Conductive hearing impairment, Anophthalmia, Ence... |
ORPHA:2052 |
Urachal Cyst |
|
Dysuria, Pyuria, Hematuria, Urachus fistula |
ORPHA:488 |
Distal Trisomy 5Q |
|
Absent thumb, Macrotia, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Hypopla... |
ORPHA:96097 |
Warsaw Breakage Syndrome |
|
2-3 toe syndactyly, Ventricular septal defect, Hypoplasia of the cochlea, Clinodactyly of the 5th... |
OMIM:613398 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Ventricular septal defect, Atrial septal defect, Recurrent pneumonia, Hypospa... |
OMIM:616449 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly, Encephalocele, Preaxial hand polydactyly, Finger syndactyly, Epispadias, Hypospadias... |
ORPHA:2211 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Genu valgum, Clinodactyly, Spindle-shaped finger, Pectus excavatum, Cutaneous syndactyly, Delayed... |
ORPHA:166024 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy |
OMIM:617713 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Tapered finger, Hydroureter, Hip dysplasia, Pyloric stenosis, Clinodactyly... |
OMIM:617219 |
Marfan Syndrome |
|
Ascending tubular aorta aneurysm, Pneumothorax, Camptodactyly, Pulmonary artery dilatation, Metat... |
OMIM:154700 |
Ciliary Dyskinesia, Primary, 30 |
|
Chronic bronchitis, Ventricular septal defect, Bronchiectasis, Situs inversus totalis, Dextrocard... |
OMIM:616037 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Patent ductus arteriosus, Patent foramen ovale, 2-3 toe syndactyly, Genu valgum, Clinodactyly of ... |
OMIM:618870 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Genu valgum, Ventricular septal defect, Short long bone, Hydrocephalus, Cone-shaped epiphyses of ... |
OMIM:615630 |
Yunis-Varon Syndrome |
|
Aplasia of the 1st metacarpal, Absent thumb, Aplasia of the distal phalanges of the hand, Tapered... |
ORPHA:3472 |
Fryns Syndrome |
|
Camptodactyly, Pulmonary hypoplasia, Rocker bottom foot, Ventricular septal defect, Atrial septal... |
OMIM:229850 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Patent foramen ovale, Anemia, Bilateral superior vena cava with no bridgin... |
OMIM:618460 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Abnormal tricuspid valve morphology, Ventricular septal defect, Anemia |
ORPHA:3405 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Hypokal... |
ORPHA:18 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Microphallus, Clinodactyly of the 5th finger, Syndactyly, Hypospad... |
ORPHA:397590 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
Malakoplakia |
|
Dysuria, Urinary urgency, Hematuria, Urinary bladder inflammation, Proteinuria, Urinary hesitancy |
ORPHA:556 |
Pycnodysostosis |
|
Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Absent frontal sinuse... |
OMIM:265800 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Camptodactyly of finger, Hallux valgus, Elbow flexion contracture, Camptodactyly, Hepatosplenomeg... |
OMIM:602782 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Tuberous Sclerosis Complex |
|
Renal angiomyolipoma, Stage 5 chronic kidney disease, Abnormality of the kidney, Polycystic kidne... |
ORPHA:805 |
Smith-Lemli-Opitz Syndrome |
|
Hip subluxation, 2-3 toe syndactyly, Precocious puberty, Epiphyseal stippling, Hip dislocation, P... |
OMIM:270400 |
Chromosome 15Q14 Deletion Syndrome |
|
Ventricular septal defect, Recurrent viral upper respiratory tract infections, Atrial septal defe... |
OMIM:616898 |
Legionnaires Disease |
|
Renal insufficiency, Hematuria, Proteinuria |
ORPHA:549 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Macrotia, Ventricular septal defect, Short metacarpal, Brachydactyly, Renal cyst, Horseshoe kidne... |
OMIM:250410 |
Endove Syndrome, Limb-Only Type |
|
Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Disproportionate shortening o... |
OMIM:619217 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hip contracture, Hypoplastic ilia, Patellar aplasia, Radioulnar syn... |
ORPHA:85201 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinur... |
ORPHA:488627 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholeste... |
ORPHA:470 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hepatomegaly, Proteinuria, Renal Fanconi syndrome, ... |
ORPHA:436271 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
Carpenter Syndrome 2 |
|
Camptodactyly, Supernumerary nipple, Pectus excavatum, Talipes equinovarus, Posteriorly rotated e... |
OMIM:614976 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Arrhinencephaly, Hydrocephalus, Microphthalmia, Low-set, posteriorly rotat... |
ORPHA:1528 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Macrotia, Camptodactyly, Down-sloping shoulders, Pectus excavatum, Microphthalmia, Cubitus valgus |
OMIM:619694 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Fractured radius, Ventricular septal defect, Low-set ears, Pulmonary hypoplasia, Short femur, Add... |
OMIM:616897 |
Helix Syndrome |
|
Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis |
OMIM:617671 |
Warburg Micro Syndrome 1 |
|
Macrotia, Overlapping toe, Microphthalmia, Cryptorchidism, Low-set ears |
OMIM:600118 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Unilateral microphthalmos, Bilateral microphthalmos, Horseshoe kidney, Sim... |
OMIM:619318 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Ventricular septal defect, Repeated pneumothoraces, Camptodactyly, Clinodac... |
OMIM:617602 |
Eec Syndrome |
|
Vesicoureteral reflux, Urethral atresia, Aplasia/Hypoplasia of the thumb, Sensorineural hearing i... |
ORPHA:1896 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... |
ORPHA:1031 |
Schizophrenia 1 |
|
Renal agenesis, Ectopic kidney, Syndactyly, Partially duplicated kidney, Short proximal phalanx o... |
OMIM:181510 |
Goodpasture Syndrome |
|
Glomerular crescent formation, Cylindruria, Glomerulonephritis, Erythrocyte cylindruria, Increase... |
OMIM:233450 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Elbow flexion contracture, Hip dislocation, Short femur, Elbow dislocation, Bifid first metacarpa... |
OMIM:210710 |
15q26 overgrowth syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia, Renal agenesis, Du... |
DECIPHER:81 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Camptodactyly of finger, Dextrocardia, Abnormal tricuspid valve morphology |
ORPHA:1759 |
Rhyns Syndrome |
|
Nephronophthisis, Renal insufficiency, Chronic kidney disease |
OMIM:602152 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia |
OMIM:171420 |
Bladder Exstrophy |
|
Vesicoureteral reflux, Abnormality of the anus, Recurrent urinary tract infections, Hypoplasia of... |
ORPHA:93930 |
Poland Syndrome |
|
Spina bifida occulta, Absent hand, Vesicoureteral reflux, Finger symphalangism, Abnormality of th... |
ORPHA:2911 |
Growth Hormone Insensitivity Syndrome |
|
Everted lower lip vermilion, Delayed eruption of teeth |
ORPHA:181393 |
Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Hip dysplasia, Hypospadias, Abnormal heart morp... |
ORPHA:494344 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:614679 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Patent foramen ovale, Restrictive cardiomyopathy, Clinodactyly, Camptodactyly, Osteolysis involvi... |
ORPHA:88630 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:300559 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Microtia, Aplasia/Hypoplasia of the lungs, Abnormal metacarpal morphology, Abn... |
ORPHA:3429 |
H Syndrome |
|
Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Hypertriglyceridemia, Micropenis |
ORPHA:168569 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Wide mouth, Delayed eruption of teeth, Short philtrum, Premature loss of t... |
ORPHA:137834 |
Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands, Cutaneous syndactyly |
OMIM:185900 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia, Talipes equinovarus |
OMIM:616171 |
Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly |
ORPHA:79128 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Polydactyly, Macrotia, Anterior pituitary hypoplasia, Ventricular septa... |
ORPHA:464306 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Cardiomegaly, Palmoplantar keratoderma, Macrotia |
OMIM:613576 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Sensorineural hearing impairment, Ventricular sep... |
OMIM:612582 |
Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Enlarged kidney, Ovarian cyst, Unilateral renal agenesis |
OMIM:618188 |
Noonan Syndrome 8 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Left ventricular hy... |
OMIM:615355 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Grange Syndrome |
|
Carotid artery stenosis, Coronary artery stenosis, Bicuspid aortic valve, Syndactyly, Renovascula... |
OMIM:602531 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Aortic root aneurysm, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, ... |
OMIM:617506 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Restrictive cardiomyopathy, Congenital megaureter, Low-set ears, Upper ... |
ORPHA:369837 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition |
ORPHA:3238 |
Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph... |
OMIM:219800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Immunodeficiency 49 |
|
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... |
OMIM:617237 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Micrognathia, Everted lower lip vermilion, Hypoplasia of the m... |
OMIM:616367 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental malocclusion, Long philtrum, Macrodontia of permanent maxillary central incisor, Delayed e... |
OMIM:257850 |
Holoprosencephaly 14 |
|
Double outlet right ventricle, Aortic valve atresia, Macrotia, Ventricular septal defect, Aqueduc... |
OMIM:619895 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Abnormal cardiac septum morphology, Hydrocephalus, Hypospadias, Cry... |
ORPHA:2075 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2715 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the thumb, High palate, Abnormal carpal morphology, ... |
ORPHA:1225 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Elevated circu... |
ORPHA:228305 |
Triploidy |
|
Meningocele, Aplasia/Hypoplasia affecting the eye, Finger syndactyly, Abnormal cardiac septum mor... |
ORPHA:3376 |
Complement Factor I Deficiency |
|
Glomerulonephritis, Renal insufficiency, Pyelonephritis, Recurrent urinary tract infections |
OMIM:610984 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney, Ovarian serous cystadenoma |
ORPHA:276280 |
Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, N... |
ORPHA:1830 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Hallux valgus, Camptodactyly, Abnormality of the pulmonary artery, Pectus excavatum, Br... |
ORPHA:261537 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Sensorineural hearing impa... |
OMIM:616975 |
Boomerang Dysplasia |
|
Aplasia/Hypoplasia of the fibula, Decreased response to growth hormone stimulation test, Finger s... |
ORPHA:1263 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion,... |
ORPHA:884 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Flared iliac wing, Pulmonary hypoplasia, Elbow dislocation, Short hallux... |
ORPHA:90652 |
Microphthalmia, Syndromic 6 |
|
Polydactyly, Hypothyroidism, Toe syndactyly, Anterior hypopituitarism, Uplifted earlobe, Hearing ... |
OMIM:607932 |
Fg Syndrome Type 1 |
|
Clinodactyly of the 2nd finger, Sensorineural hearing impairment, Finger syndactyly, Microtia, Mi... |
ORPHA:93932 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Epiphyseal stippling, Pulmonary hypoplasia, Thyroid hypoplasi... |
OMIM:308050 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c... |
ORPHA:411629 |
Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Conductive hearing impairment, Elbow flexion contracture, Phocomelia, Reduced... |
OMIM:122470 |
Microcephaly-Capillary Malformation Syndrome |
|
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Clinodactyly, Atrial sept... |
OMIM:614261 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Aortic root aneurysm, Pulmonary artery aneurysm, Vascular tortuosity, Pulmonary artery dilatation... |
OMIM:614437 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Thrombocytopenia, Sideroblastic anemia, Ventricular septal defect |
OMIM:617021 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, Decreased testicular size, Microphthalmia, Cryptorchidism, Low-set ears, M... |
OMIM:619185 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Uraciluria |
OMIM:274270 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Exercise-induced myoglobinuria, Decreased plasma carnitine, Dicarboxylic... |
OMIM:201475 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Trichorrhexis nodosa, Villous atrophy, Brittle hair, Bifid uvula, Fine hair, Woolly h... |
OMIM:222470 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Toe syndactyly, Ectrodactyly, Short palm, Ventricular se... |
ORPHA:251014 |
Monosomy 5P |
|
High palate, Finger syndactyly, Small hand, Microcephaly, Intrauterine growth retardation |
ORPHA:281 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Tubulointerstitial nephritis, Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:183 |
Ring Chromosome 21 Syndrome |
|
Diabetes insipidus, Small hand, Clinodactyly, Syndactyly, Holoprosencephaly, Narrow palm, Abnorma... |
ORPHA:1445 |
Cohen Syndrome |
|
Genu valgum, Sensorineural hearing impairment, Ventricular septal defect, Aplasia/Hypoplasia of t... |
ORPHA:193 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Anemia, Complete duplication of thumb phalanx, Ventricular septal defect, Neutropen... |
OMIM:227645 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria |
ORPHA:853 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Left ventricular hypertrophy,... |
OMIM:619487 |
Ciliary Dyskinesia, Primary, 38 |
|
Conductive hearing impairment, Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:618063 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Dental malocclusion, Mandibular prognathia, High palate, Abnormality of dental eruption, Downturn... |
ORPHA:1327 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Syndactyly, Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones |
OMIM:600384 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Finger syndactyly, Toe syndactyly, Intrauterine growth retardation,... |
ORPHA:73246 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Triphalangeal thumb, Vesicoureteral reflux, Macrotia, Ventricular septal defect, Congenital hip d... |
ORPHA:3078 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Communicating hydrocephalus, Anomalous pulmonary venous return, Abnorma... |
ORPHA:2184 |
Simple Cryoglobulinemia |
|
Nephrotic syndrome, Abnormality of the kidney, Membranoproliferative glomerulonephritis, Nephriti... |
ORPHA:91139 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis... |
OMIM:251000 |
Ivic Syndrome |
|
Absent thumb, Short femur, Thrombocytopenia, Hearing impairment, Short 1st metacarpal, Carpal syn... |
OMIM:147750 |
Treacher-Collins Syndrome |
|
Patent ductus arteriosus, Conductive hearing impairment, Narrow internal auditory canal, Encephal... |
ORPHA:861 |
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syn... |
ORPHA:157801 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Sensorineural hearing impairment, Finger syndactyly, Abnormality of the wrist, Abnormal thumb mor... |
ORPHA:1825 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Histiocytoid cardiomyopathy, Ventricular septal defect, Hydrocephalus, Atrial septal defect, Hypo... |
OMIM:309801 |
Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:77297 |
Spondylo-Ocular Syndrome |
|
Abnormal antihelix morphology, Ventricular septal defect, Microphthalmia, Low-set ears, Aplasia/H... |
ORPHA:85194 |
Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Hypogonadism |
ORPHA:2528 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Anemia, Ventricular septal defect, Atrial septal ... |
OMIM:606003 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Proximal tubulopathy, Ventricular septal defect, Hip dysplasia, Hydroce... |
OMIM:614576 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Pseudoepiphyses, Congenital sensorineural hearing impairment, Post... |
OMIM:157800 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, High palate, Aqueductal stenosis, Finger syndactyly, Small hand, Toe synda... |
ORPHA:93260 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Dental crowding |
OMIM:618825 |
Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Anophthalmia, Anterior hypopituitarism, Ho... |
OMIM:147250 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Ventricular septal defect, Postaxial foot polydactyly, Abnormal heart morphol... |
ORPHA:404440 |
Burn-Mckeown Syndrome |
|
2-3 toe syndactyly, Conductive hearing impairment, Ventricular septal defect, Unilateral renal ag... |
OMIM:608572 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
2-3 finger syndactyly, Flared iliac wing, Supernumerary nipple, Pectus excavatum, Duplication of ... |
OMIM:312870 |
Refsum Disease |
|
Sensorineural hearing impairment, Short metacarpal, Microphthalmia, Hammertoe, Renal insufficienc... |
ORPHA:773 |
Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Ventricular septal defect, Microtia, Clinodactyly of the 5th finger, Atr... |
OMIM:301030 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Spinal dysraphism, Coxa valga, Epiphyseal stippling, Camptodactyly, Pulmonary hypopl... |
ORPHA:96334 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Hepatomegaly, Proteinuria, Renal Fanconi syndrome, ... |
OMIM:220110 |
Cockayne Syndrome Type 2 |
|
Macrotia, Anophthalmia, Male hypogonadism, Cryptorchidism, Hearing impairment |
ORPHA:90322 |
Hamamy Syndrome |
|
Short 2nd finger, Sensorineural hearing impairment, Tapered finger, Hip dysplasia, Clinodactyly o... |
OMIM:611174 |
Alzahrani-Kuwahara Syndrome |
|
Patent foramen ovale, Macrotia, Ventricular septal defect, Coronary sinus enlargement, Atrial sep... |
OMIM:619268 |
Glycogen Storage Disease Ic |
|
Hyperuricemia, Hematuria, Decreased glomerular filtration rate, Proteinuria, Hyperlipidemia, Hepa... |
OMIM:232240 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Abnormal circulating fatty-acid concentration, Hypophosphatemic rickets, Hepatomegaly... |
ORPHA:263455 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart, Aplasia/Hypoplasia ... |
ORPHA:2476 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Ventricular septal defect, Hypoplasia of the radius, Pulmonary hypoplasia, Synd... |
OMIM:617895 |
Silver-Russell Syndrome 3 |
|
Patent ductus arteriosus, Small hand, Clinodactyly of the 5th finger, Syndactyly, Unilateral cryp... |
OMIM:616489 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Subvalvular aortic stenosis, Hypothyroidism, Round ear, Ventricular septal defect, Decreased resp... |
OMIM:614114 |
Doors Syndrome |
|
Short 5th finger, Adrenal hyperplasia, Spina bifida occulta, Sirenomelia, Abnormality of the urin... |
ORPHA:79500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Microphthalmia, Cardiomyopathy |
OMIM:613155 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal long bone morphology, Abnormality of the kidney, Abnormal pelvis bone ... |
ORPHA:166119 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Low-set ears, Clinodactyly of the 5th finger, Ventricular septal defect, Posteriorly rotated ears |
OMIM:314320 |
Fixed Subaortic Stenosis |
|
Patent ductus arteriosus, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Bacter... |
ORPHA:3092 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Leopard Syndrome 1 |
|
Subvalvular aortic stenosis, Pectus excavatum, Spina bifida occulta, Hypertrophic cardiomyopathy,... |
OMIM:151100 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency |
OMIM:247410 |
Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Ventricular septal defect, Left ventricular hypertrophy, Noncompaction ... |
OMIM:604169 |
Orofaciodigital Syndrome V |
|
Ventricular septal defect, Recurrent respiratory infections, Postaxial foot polydactyly, Unilater... |
OMIM:174300 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Microdontia, Narrow mouth, Delayed eruption of permanent teeth, Open mouth |
OMIM:619356 |
Hyperoxaluria, Primary, Type I |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:259900 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Shoulder dislocation, Conductive hearing impairment, Sensorin... |
ORPHA:536545 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Stage 5 chronic kidney disease, Hematuria, Nephropathy, Proteinuria, Chronic kidney disease |
ORPHA:1018 |
8Q12 Microduplication Syndrome |
|
Vesicoureteral reflux, Sensorineural hearing impairment, Ventricular septal defect, Atrial septal... |
ORPHA:228399 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Dilatation of the ventricular cavity, Macrotia, Ventricular septal defect, Sensorineural hearing ... |
ORPHA:459070 |
Holoprosencephaly 9 |
|
Macrotia, Decreased response to growth hormone stimulation test, Anophthalmia, Anterior pituitary... |
OMIM:610829 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Clubbing of fi... |
ORPHA:335 |
Acrofacial Dysostosis 1, Nager Type |
|
Absent thumb, Conductive hearing impairment, Hallux valgus, Toe syndactyly, Hip dislocation, Over... |
OMIM:154400 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hyperalaninemia, Hypospadias, Increased serum pyruvate, Mild proteinuria, Renal insufficiency |
OMIM:619147 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hip dysplasia, Hydrocephalus, Clinodactyly of the 5th finger, Unilateral renal agenesis, Optic ne... |
ORPHA:457284 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Noonan Syndrome 2 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal coronary artery origin, Palmopl... |
OMIM:605275 |
Trisomy 20P |
|
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Ectopic anus, Spina bifida... |
ORPHA:261318 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Immunodeficiency 31C |
|
Intussusception, Protein-losing enteropathy, Gastrointestinal eosinophilia, Villous atrophy |
OMIM:614162 |
Neu-Laxova Syndrome 1 |
|
Toe syndactyly, Camptodactyly, Pulmonary hypoplasia, Radial deviation of finger, Rocker bottom fo... |
OMIM:256520 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, C... |
OMIM:102500 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Oliguria |
ORPHA:727 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary hypoplasia, Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal death, Int... |
OMIM:619003 |
Craniofrontonasal Dysplasia |
|
Camptodactyly of finger, High palate, Finger syndactyly, Hand polydactyly, Clinodactyly of the 5t... |
ORPHA:1520 |
Congenital Factor V Deficiency |
|
Hematuria |
ORPHA:326 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Thick lower lip vermilion, Taurodontia, Carious teeth, Clef... |
ORPHA:10 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Patent ductus arteriosus, Short toe, Tapered finger, Ventricular septal defect, Posterior pituita... |
ORPHA:464311 |
Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Stage 5 chronic kidney disease, Sandal gap, Peripheral pulmonary artery steno... |
OMIM:614099 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Ventricular septal defect, Bicuspid a... |
OMIM:617751 |
Monosomy 18P |
|
Abnormal antihelix morphology, Hypothyroidism, Macrotia, Pectus excavatum, Holoprosencephaly, Mic... |
ORPHA:1598 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Nephrotic syndrome, Hepatospl... |
OMIM:615559 |
Robinow Syndrome |
|
Posteriorly rotated ears, Multicystic kidney dysplasia, Radioulnar dislocation, Ventricular septa... |
ORPHA:97360 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery, Annular pancreas |
ORPHA:1203 |
Kury-Isidor Syndrome |
|
Ventricular septal defect, Finger syndactyly, Hip dysplasia, Talipes equinovarus, Proximal placem... |
OMIM:619762 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Ascending tubular aorta aneurysm, Ventricular septal defect, Hyperextensibility o... |
OMIM:309520 |
Periventricular Nodular Heterotopia 7 |
|
2-3 toe syndactyly, 1-4 toe syndactyly, Sensorineural hearing impairment, Ventricular septal defe... |
OMIM:617201 |
Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Patent ductus arteriosus, Recurr... |
ORPHA:33001 |
Meester-Loeys Syndrome |
|
Aortic root aneurysm, Ascending tubular aorta aneurysm, Pulmonary artery aneurysm, Mitral valve p... |
OMIM:300989 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Short phalanx of finger, Pulmonary hypoplasia, Early ossification of capital femoral epiphyses, H... |
OMIM:208500 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Sensorineural hearing impairment, Ventricular septal defect, Atrial septal ... |
ORPHA:49827 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Hematuria, Glomerulonephritis, Proteinuria, Renal insufficiency |
OMIM:161200 |
Al Amyloidosis |
|
Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, Increased cir... |
ORPHA:85443 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Toe syndactyly, Clinodactyly of the 5th finger, Pulmonary hypoplasia, Intestinal malrotation, Syn... |
OMIM:601163 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, 2-4 toe syndactyly, F... |
OMIM:272440 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Macrotia, Tapered finger, Ventricular septal defect... |
OMIM:617061 |
Phace Syndrome |
|
Aortic root aneurysm, Hypothyroidism, Abnormal cerebral artery morphology, Abnormal cardiac septu... |
ORPHA:42775 |
Atelosteogenesis, Type Ii |
|
Bifid humerus, Flat acetabular roof, Pulmonary hypoplasia, Hitchhiker thumb, Abnormal pelvic gird... |
OMIM:256050 |
Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal hypoplasia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia |
ORPHA:85321 |
Fabry Disease |
|
Left ventricular hypertrophy, Urinary mulberry cells, Proteinuria, Renal insufficiency, Lipiduria |
OMIM:301500 |
Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ventricular septal defect, Bilateral lung agenesis, Absent nipple, L... |
OMIM:618021 |
Temple-Baraitser Syndrome |
|
High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of teeth, Wide mouth, E... |
ORPHA:420561 |
Noonan Syndrome |
|
Sensorineural hearing impairment, Aplasia of the semicircular canal, Radioulnar synostosis, Clino... |
ORPHA:648 |
Noonan Syndrome 10 |
|
Patent ductus arteriosus, Palmoplantar cutis laxa, Ventricular septal defect, Mitral stenosis, Mi... |
OMIM:616564 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Precocious puberty, Anophthalmia, Hypospadias, Microphthalmia, 3-4 finger syn... |
OMIM:615877 |
Apert Syndrome |
|
Broad distal phalanx of the thumb, Broad distal hallux, Preaxial hand polydactyly, Delayed epiphy... |
OMIM:101200 |
Coffin-Siris Syndrome 2 |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Thick lower lip vermilion, Sho... |
OMIM:614607 |
Myhre Syndrome |
|
2-3 toe syndactyly, Pericardial effusion, Camptodactyly, Overlapping toe, Radial deviation of fin... |
OMIM:139210 |
Osteopathia Striata With Cranial Sclerosis |
|
Conductive hearing impairment, Camptodactyly, Pectus excavatum, Spina bifida occulta, Flexion con... |
OMIM:300373 |
Aredyld Syndrome |
|
Mandibular prognathia, Advanced eruption of teeth, Craniofacial hyperostosis, Narrow mouth, Smoot... |
ORPHA:1133 |
Laron Syndrome |
|
Micrognathia, Tooth agenesis, Microdontia, Delayed eruption of teeth |
ORPHA:633 |
17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Multicystic kidney dysplasia, Ureterocele |
ORPHA:261265 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Renal cyst, Hepatomegaly, Dark urine,... |
ORPHA:79303 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Renal insufficiency |
ORPHA:445038 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria |
ORPHA:35909 |
Chromosome 9P Deletion Syndrome |
|
Patent ductus arteriosus, Hallux varus, Tapered finger, Ventricular septal defect, Clinodactyly o... |
OMIM:158170 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Clinodactyly of the 2nd finger, Precocious puberty, Coxa valga, Ventricular septal defect, Short ... |
OMIM:620073 |
Caroli Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia, Hyperbilirubinemia, Hepatomegaly, Conjuga... |
ORPHA:480520 |
Proboscis Lateralis |
|
Patent ductus arteriosus, Ureteral agenesis, Anophthalmia, Ventricular septal defect, Unilateral ... |
ORPHA:141099 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Stapes ankylosis, Coxa vara, Short femoral neck, Radioulnar synostosis, Clino... |
OMIM:614701 |
Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Hallux valgus, Camptodactyly, Abnormality of the pulmonary artery, Pectus excavatum, Br... |
ORPHA:261552 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Delayed eruption of teeth |
OMIM:614450 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele, Multicystic kidney dysplasia, Clinodactyly of the 5th finger, Renal cyst, Low-set, p... |
ORPHA:2031 |
Kleefstra Syndrome 1 |
|
Conotruncal defect, Hypospadias, Single transverse palmar crease, Micropenis, Abnormal pinna morp... |
OMIM:610253 |
Tonne-Kalscheuer Syndrome |
|
Velopharyngeal insufficiency, Pulmonary hypoplasia, Hypospadias, Broad thumb, Microcephaly, Brach... |
OMIM:300978 |
Congenital Heart Defects, Multiple Types, 3 |
|
Abnormal heart morphology, Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal... |
OMIM:614954 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Cystic Echinococcosis |
|
Abnormal subpleural morphology, Abnormality of the testis size, Splenic cyst, Renal cyst, Multipl... |
ORPHA:400 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormally large globe, Splenomegaly, Ventricular septal defect, Pulmonary lymphangiectasia, Hepa... |
ORPHA:1655 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
Atypical Werner Syndrome |
|
Osteolytic defects of the phalanges of the hand, Abnormal testis morphology, Abnormal cerebral va... |
ORPHA:79474 |
Kawasaki Disease |
|
Abnormal pulmonary interstitial morphology, Ascending tubular aorta aneurysm, Abnormal heart valv... |
ORPHA:2331 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Abnormal cardiac septum morpholog... |
ORPHA:1352 |
Trisomy 18 |
|
Camptodactyly of finger, Pointed helix, Abnormality of the upper limb, Ventricular septal defect,... |
ORPHA:3380 |
Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus |
OMIM:612651 |
Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
Alkuraya-Kucinskas Syndrome |
|
Hand clenching, Pericardial effusion, Hydrocephalus, Camptodactyly, Talipes equinovarus, Clinodac... |
OMIM:617822 |
Jacobsen Syndrome |
|
Ventricular septal defect, Macular hypoplasia, Annular pancreas, Hydrocephalus, Clinodactyly of t... |
OMIM:147791 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Polycystic kidney dysplasia, Hepatic cysts, Ovarian cyst, Proteinuria |
OMIM:311200 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Short thumb, Palmoplantar kerato... |
ORPHA:2251 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Macrotia, Tapered finger, Ventricular septal defect, Hyperextensibility of the finger joints, Toe... |
ORPHA:505237 |
Galactosemia |
|
Renal insufficiency, Hypergalactosemia, Increased level of galactitol in plasma, Hepatomegaly |
ORPHA:352 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Coxa valga, Sensorineural hearing impairment, Joint contracture of the hand, Elbow flexion contra... |
OMIM:214150 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Villous atrophy |
OMIM:212065 |
Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Narrow palate, Short first metatarsal, High palate, Broad hallux, Syndactyly, Inte... |
OMIM:613684 |
Renpenning Syndrome 1 |
|
Macrotia, Ventricular septal defect, Joint contracture of the hand, Decreased testicular size, Ph... |
OMIM:309500 |
Opitz-Kaveggia Syndrome |
|
Camptodactyly, Broad hallux, Radial deviation of finger, Cleft palate, Narrow palate, Hydrocephal... |
OMIM:305450 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, High palate, Elbow flexion contracture, Internally rotated shoulders, Camptodact... |
OMIM:617468 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Cerebrooculonasal Syndrome |
|
Conductive hearing impairment, Encephalocele, Anophthalmia, Hydrocephalus, Optic nerve hypoplasia... |
OMIM:605627 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormal palmar dermatoglyphics, Microtia, Atrial septal defect, Multiple bladder diverticula, Mi... |
ORPHA:2728 |
Codas Syndrome |
|
Sensorineural hearing impairment, Ventricular septal defect, Short metacarpal, Crumpled ear, Hydr... |
ORPHA:1458 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, Metaphyseal cupping, Hydrocephalus, Metaphyseal cupping of proximal phala... |
OMIM:300863 |
Terminal Osseous Dysplasia |
|
Camptodactyly of finger, Short toe, Camptodactyly of toe, Clinodactyly, Syndactyly, Toe clinodact... |
OMIM:300244 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, 2-3 toe syndactyly, Aplasia of the 1st metacarpal, Tapered finger, Unilater... |
ORPHA:476126 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Camptodactyly, At... |
OMIM:614262 |
Chops Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Splenomegaly, Aspiration p... |
OMIM:616368 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Macrotia, Tapered finger, Ventricular septal defect, Talipes equinovarus, Atrial septal defect, D... |
OMIM:617452 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Meningocele, Conductive hearing impairment, Ventricular septal defect, ... |
OMIM:130720 |
Koolen-De Vries Syndrome |
|
Aortic root aneurysm, Vesicoureteral reflux, Patent ductus arteriosus, Macrotia, Ventricular sept... |
OMIM:610443 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ... |
OMIM:617641 |
Smith-Lemli-Opitz Syndrome |
|
Atrioventricular canal defect, 2-3 toe syndactyly, Hip dislocation, Pulmonary hypoplasia, Holopro... |
ORPHA:818 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
Variant Abeta2M Amyloidosis |
|
Renal amyloidosis, Chronic kidney disease |
ORPHA:314652 |
Nail-Patella Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Abnormality of the kidney, Hematuria, Nephrit... |
ORPHA:2614 |
Ciliary Dyskinesia, Primary, 2 |
|
Bronchiectasis, Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, Hearing i... |
OMIM:606763 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Secundum atrial septal defect, Long penis, Short femur, Pneumonia, Tali... |
OMIM:264090 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Renal dysplasia, Pectus excavatum, Overlapping toe, Abnormal heart morphology, Microphthalmia, Lo... |
OMIM:618571 |
Limb Body Wall Complex |
|
Duplication of hand bones, Abnormality of the kidney, Encephalocele, Ventricular septal defect, M... |
ORPHA:2369 |
Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol... |
OMIM:619142 |
Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
Ectrodactyly-Polydactyly Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Ab... |
ORPHA:1892 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Hepatosplenomegaly, Pulmonary artery stenosis, Thrombocytopenia, Splen... |
OMIM:301068 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Protrusio acetabuli, Hypoplastic pulmonary veins, Coxa vara, Femoral retrove... |
OMIM:610682 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
High palate, Long philtrum, Delayed eruption of teeth, Macroglossia, Dental crowding, Broad philt... |
OMIM:616354 |
Werner Syndrome |
|
Ovarian neoplasm, Small hand, Abnormal testis morphology, Abnormal cerebral vascular morphology, ... |
ORPHA:902 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus, Atresia of the external auditory canal |
OMIM:209770 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Delayed eruption of teeth |
ORPHA:166272 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Clinodactyly, Pectus excavatum, Syndactyly, Large fleshy ears, Arachnodactyly, Low-set ears, Over... |
OMIM:619092 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Microtia, Septo-optic dysplasia, Aplasia/Hypoplasia of the lungs, H... |
ORPHA:3301 |
Acrofrontofacionasal Dysostosis 2 |
|
High palate, Wide anterior fontanel, Hand polydactyly, Broad hallux, Syndactyly, Hypospadias, Bro... |
OMIM:239710 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart, Cryptorchidism, Low-set, ... |
ORPHA:2772 |
Brachydactyly-Syndactyly Syndrome |
|
Short phalanx of finger, Finger syndactyly, Short digit, Camptodactyly, Oligodactyly, Syndactyly,... |
OMIM:610713 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
Microphthalmia, Syndromic 1 |
|
Camptodactyly, Pulmonary hypoplasia, Pectus excavatum, Radial deviation of finger, Hearing impair... |
OMIM:309800 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Clinodactyly, Syndactyly, Hypospadi... |
OMIM:217980 |
Craniofaciofrontodigital Syndrome |
|
Patent ductus arteriosus, Anomalous branches of internal carotid artery, Palmoplantar cutis laxa,... |
ORPHA:363705 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Proteinuria |
ORPHA:69126 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Ventricular septal defect, Hydrocepha... |
OMIM:612938 |
White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Lo... |
ORPHA:2475 |
Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Renal duplication, Conductive hearing impairment, Anemia, Ventricular s... |
OMIM:613309 |
Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Renal insufficiency, Oliguria |
ORPHA:188 |
Distal Monosomy 12Q |
|
2-3 toe syndactyly, Bilateral conductive hearing impairment, Elbow flexion contracture, Overlappi... |
ORPHA:96149 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Hypertrophic cardiomyopathy, Single transverse palmar crease, Microphthalmia, Renal hy... |
OMIM:619053 |
Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Complete duplication of thumb phalanx, Finger syndactyly, Renal hypoplas... |
ORPHA:568 |
Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Microdontia, Hypoplasia of the... |
ORPHA:50814 |
Braddock-Carey Syndrome 2 |
|
Clinodactyly, Microphthalmia, Thrombocytopenia, Hearing impairment, Atresia of the external audit... |
OMIM:619981 |
Ogden Syndrome |
|
Metatarsus valgus, Secundum atrial septal defect, Pulmonary hypoplasia, Pectus excavatum, Broad h... |
OMIM:300855 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Hydrocephalus, Microphthalmia, ... |
ORPHA:163966 |
Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Hypoka... |
ORPHA:89938 |
Mody |
|
Glycosuria, Abnormality of the kidney, Renal cyst, Nephropathy, Elevated hemoglobin A1c, Abnormal... |
ORPHA:552 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Malabsorption, Gastrointestinal carcinoma, Glossitis, Xerostomia, Hamartomatous polypos... |
OMIM:175500 |
Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Advanced eruption of teeth, Hyperplasia of the premaxilla, E... |
OMIM:614753 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Adams-Oliver Syndrome 2 |
|
Hydrocephalus, Single transverse palmar crease, Microphthalmia, Absent distal phalanges, Low-set ... |
OMIM:614219 |
Constricting Bands, Congenital |
|
Encephalocele, Abnormal lung lobation, Hand polydactyly, Ectopia cordis, Syndactyly, Bladder exst... |
OMIM:217100 |
Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Conductive hearing impairment, Sensorineural hearing impairment, Ab... |
ORPHA:261197 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Hypoplasi... |
ORPHA:915 |
Tetrasomy 9P |
|
Abnormal cardiac septum morphology, Renal dysplasia, Pulmonary hypoplasia, Pericarditis, Talipes ... |
ORPHA:3310 |
Ververi-Brady Syndrome |
|
Metaphyseal irregularity, Macrotia, Clinodactyly of the 5th finger, Low-set ears, Cupped ear, Tra... |
OMIM:617982 |
Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Thickened helices, Pectus excavatum of inferior sternum, Pulmonic sten... |
OMIM:610733 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Hypothyroidism, Abnormality of the upper limb, Multicystic kidney dyspl... |
ORPHA:1556 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Ulnar deviation of the hand or of fingers of the hand, Epiphyseal stippling, Pulmo... |
OMIM:214100 |
Ciliary Dyskinesia, Primary, 22 |
|
Chronic bronchitis, Bronchiectasis, Recurrent sinusitis, Situs inversus totalis, Dextrocardia, Re... |
OMIM:615444 |
Roberts Syndrome |
|
Wrist flexion contracture, Long penis, Phocomelia, Radial deviation of finger, Thrombocytopenia, ... |
ORPHA:3103 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Peripheral arterial stenosis, Varicose veins, Ventricular septal defect |
OMIM:126320 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Renal tubular atrophy, Aminoaciduria, Patent foramen ovale, Renal tubular acidosis, Ventricular s... |
OMIM:208085 |
Kagami-Ogata Syndrome |
|
Patent ductus arteriosus, Splenomegaly, Coxa valga, Ventricular septal defect, Microtia, Pulmonar... |
OMIM:608149 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Hip subluxation, Tapered finger, Ischemic stroke, Ascending aorta hy... |
OMIM:619503 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Coffin-Siris Syndrome 3 |
|
High palate, Long philtrum, Wide mouth, Macroglossia, Delayed eruption of permanent teeth, Cleft ... |
OMIM:614608 |
Microphthalmia, Syndromic 5 |
|
Anophthalmia, Optic nerve hypoplasia, Ectopic posterior pituitary, Microphthalmia, Cryptorchidism... |
OMIM:610125 |
Gaucher Disease Type 1 |
|
Proteinuria, Hematuria |
ORPHA:77259 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency |
OMIM:615986 |
Acrorenal-Mandibular Syndrome |
|
Aplasia of the bladder, Abnormality of the ureter, Renal agenesis, Polycystic kidney dysplasia |
OMIM:200980 |
Atrial Septal Defect, Ostium Primum Type |
|
Right ventricular dilatation, Left ventricular hypertrophy, Clubbing of fingers, Pulmonary artery... |
ORPHA:99106 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Foot oligodactyly, Toe syndactyly, Hand oligodactyly, Split foot, Split hand |
OMIM:225300 |
Serkal Syndrome |
|
Hypoplasia of the bladder, Malrotation of small bowel, Renal agenesis, Pulmonary hypoplasia, Hypo... |
ORPHA:139466 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Cleft earlobe, Anophthalmia, Abnormal cardiac septum morphology, Abnormal testis morphology, Mitr... |
ORPHA:2556 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Toe syndactyly, Camptodactyly of toe, Microphthalmia, Sandal gap, Low-... |
ORPHA:251038 |
Seckel Syndrome 2 |
|
Ectopic kidney, Hypospadias, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:606744 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Low-set, posteriorly rotated ears, Fifth finger distal phalanx clinodactyly, Ventricular septal d... |
ORPHA:3369 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sensorineural hearing impairment, Epiphyseal stippling, Hip dislocation, Upper limb asymmetry, Mi... |
ORPHA:35173 |
Pheochromocytoma |
|
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis |
OMIM:171300 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Finger syndactyly, Toe syndactyly, Clinodactyly of the 5th finger, Sup... |
ORPHA:217346 |
Lymphatic Filariasis |
|
Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr... |
ORPHA:2035 |
Lambotte Syndrome |
|
Macrotia, Ventricular septal defect, Preaxial foot polydactyly, Semilobar holoprosencephaly, Atre... |
OMIM:245552 |
Bartsocas-Papas Syndrome 2 |
|
Small hand, 2-5 finger cutaneous syndactyly, Microphthalmia, Absent distal phalanges, Low-set ear... |
OMIM:619339 |
Insulin-Like Growth Factor I, Resistance To |
|
Patent foramen ovale, Rieger anomaly, Ventricular septal defect, Small hand, Short finger, Clinod... |
OMIM:270450 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth |
OMIM:619797 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Atrial septal defect, Cryptorchidism, Brachy... |
ORPHA:457193 |
Spondyloenchondrodysplasia |
|
Proteinuria, Hematuria, Chronic kidney disease |
ORPHA:1855 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Small hand, Bicuspid aortic valve, Brachydactyly, Low-set ears, Short ... |
OMIM:617450 |
Ring Chromosome 12 Syndrome |
|
Hypothyroidism, Microtia, Secundum atrial septal defect, Clinodactyly, Abnormal 5th finger morpho... |
ORPHA:1439 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Absent thumb, Thrombocytopenia, Normochromic anemia, Abnormality of the t... |
ORPHA:124 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
Stormorken Syndrome |
|
Hematuria |
OMIM:185070 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Wiskott-Aldrich Syndrome |
|
Glomerulopathy, Anemia, Hypoplasia of the thymus, Neutropenia, Hemolytic anemia, Abnormal eosinop... |
ORPHA:906 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Splenomegaly, Congenital megaureter, Enlarged kidney, Elev... |
ORPHA:116 |
Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Renal insufficiency, Focal segme... |
OMIM:242900 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Conductive hearing impairment, Sensorineural hearing impairment, Ventricular sept... |
ORPHA:254346 |
Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Toe syndactyly, Supernumerary nipple, Pectus excavatum, Postaxial hand p... |
ORPHA:373 |
2P15P16.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Multicystic kidney dysplasia, Tapered finger, Hypogonadism, Decreased te... |
ORPHA:261349 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Enlarged kidney, Mucopolysacchariduria, Hepatomegaly, Cardio... |
OMIM:252500 |
Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Macrotia, Ventricular septal defect, Bicuspid aortic valve, Clinodactyly of... |
OMIM:618027 |
Meckel Syndrome 12 |
|
Bilateral renal agenesis, Arrhinencephaly, Bifid uvula, Ureteral hypoplasia, Microcephaly, Renal ... |
OMIM:616258 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Pulmonary edema, Hydrocephalus, Renal cyst, Stroke-like episode, Polyc... |
ORPHA:137675 |
Vater/Vacterl Association |
|
Renal dysplasia, Patent urachus, Vesicoureteral reflux, Ventricular septal defect, Spina bifida, ... |
OMIM:192350 |
Omodysplasia 1 |
|
Short tibia, Limited elbow flexion, Anterolateral radial head dislocation, Ventricular septal def... |
OMIM:258315 |
4H Leukodystrophy |
|
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:289494 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, ... |
OMIM:253800 |
Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Spina bifida, Toe syndactyly, Spina bifida occulta, Preaxial polydactyly, Micr... |
ORPHA:64754 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia |
OMIM:608104 |
Steinfeld Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Unilateral renal d... |
OMIM:184705 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, High palate, Natal tooth, Absent paranasal sinuses, Microdontia, Dental cr... |
OMIM:269300 |
Woods Syndrome |
|
Ventricular septal defect, 3-4 finger cutaneous syndactyly, Supernumerary nipple, Single transver... |
OMIM:615236 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Limited elbow movement, Sm... |
OMIM:610759 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Bronchiectasis, Aortic aneurysm, Pyelonephritis, Bladder di... |
ORPHA:90348 |
Galloway-Mowat Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:2065 |
Lissencephaly 8 |
|
Occipital encephalocele, Microphthalmia, Talipes equinovarus |
OMIM:617255 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated circulating creatinine concentration, Nephropathy, Proteinuria, Glomerular sclerosis |
ORPHA:247691 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Ventricular septal defect, Anterior encephalocele, Short femur, Holoprosenceph... |
OMIM:601357 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Gracile Bone Dysplasia |
|
Asplenia, Slender long bone, Hydrocephalus, Flared metaphysis, Microphthalmia, Brachydactyly, Hyp... |
OMIM:602361 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Microphthalmia |
ORPHA:324416 |
Penoscrotal Transposition |
|
Patellar aplasia, Renal dysplasia, Penoscrotal transposition, Renal agenesis, Clinodactyly of the... |
ORPHA:2842 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
Hereditary Fructose Intolerance |
|
Hyperuricemia, Hypophosphatemia, Hypermagnesemia, Hepatomegaly, Renal insufficiency, Chronic kidn... |
ORPHA:469 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Recurrent aspiration pneumonia, Syndactyly, Cleft palate |
OMIM:300484 |
Branchiooculofacial Syndrome |
|
Conductive hearing impairment, Elbow flexion contracture, Supernumerary nipple, Hearing impairmen... |
OMIM:113620 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst |
OMIM:617100 |
Hemorrhagic Fever-Renal Syndrome |
|
Tubulointerstitial nephritis, Anuria, Acute tubulointerstitial nephritis, Acute kidney injury, De... |
ORPHA:340 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Meckel Syndrome, Type 3 |
|
Polydactyly, Multicystic kidney dysplasia, Hydrocephalus, Postaxial foot polydactyly, Bile duct p... |
OMIM:607361 |
Pericardial And Diaphragmatic Defect |
|
Patent ductus arteriosus, Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partia... |
ORPHA:2847 |
Cranioectodermal Dysplasia 2 |
|
Patent ductus arteriosus, Patent foramen ovale, Polydactyly, Polysplenia, Clinodactyly, Left vent... |
OMIM:613610 |
Sickle Cell Disease |
|
Renal insufficiency, Hematuria |
OMIM:603903 |
Alg9-Cdg |
|
Gastroesophageal reflux, Villous atrophy, Bifid uvula, Low posterior hairline, Hypoplastic nipple... |
ORPHA:79328 |
Sclerosteosis |
|
Sensorineural hearing impairment, Finger syndactyly, 2-3 finger syndactyly, Curved distal phalang... |
ORPHA:3152 |
Sweeney-Cox Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Asplenia, Low-set ears, Bilateral talipes equinov... |
OMIM:617746 |
Congenital Alveolar Capillary Dysplasia |
|
Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary valve atresia, Asplenia, Absen... |
ORPHA:210122 |
Charlie M Syndrome |
|
Triphalangeal thumb, Macrotia, Finger syndactyly, Abnormal metacarpal morphology, Split hand, Bra... |
ORPHA:1406 |
Leprechaunism |
|
Enlarged kidney, Hypokalemia, Increased circulating renin level, Long penis, Hepatomegaly, Enlarg... |
ORPHA:508 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Ventricular septal defect, Aplasia/Hypopl... |
ORPHA:94066 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect |
OMIM:617044 |
Brachydactyly Type B |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Short metacarpal, Synostosi... |
ORPHA:93383 |
Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Finger syndactyly, Hypogonadism, Nephrotic syndrome, Hypoplasia of ... |
ORPHA:110 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Foot polydactyly, Hydrocephalus, Hand polydactyly, Dextrocardia, Low-set, posterio... |
ORPHA:220493 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, Flat acetabular roof, Hemiatrophy of upper limb, Abnormal f... |
ORPHA:163649 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Conductive hearing im... |
ORPHA:2990 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Sensorineural hearing impairment, Finger... |
ORPHA:3250 |
Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect, Short first metatarsal, Short 1st metacarpal, Shortening of all di... |
OMIM:619135 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Urinary incontinence, Microcephaly |
OMIM:615284 |
Joubert Syndrome 2 |
|
Encephalocele, Hydrocephalus, Postaxial foot polydactyly, Renal cyst, Postaxial hand polydactyly,... |
OMIM:608091 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas... |
ORPHA:71212 |
Wilson Disease |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, ... |
OMIM:277900 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Radial bowing, Pulmonary hypoplasia, Lower limb undergrowth, Intestinal malr... |
ORPHA:3035 |
Penile Agenesis |
|
Absent penis, Ventricular septal defect, Bilateral lung agenesis, Bilateral renal agenesis, Ureth... |
ORPHA:49 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Aortic arch aneurysm, Conductive hearing impairment, Abn... |
ORPHA:1606 |
Lambert Syndrome |
|
Hypospadias, Branchial anomaly, Ventricular septal defect |
ORPHA:1296 |
Thakker-Donnai Syndrome |
|
Macrotia, Ventricular septal defect, Communicating hydrocephalus, Tetralogy of Fallot, Transposit... |
ORPHA:1780 |
Microphthalmia, Syndromic 13 |
|
Anteverted ears, Microphthalmia |
OMIM:300915 |
Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia |
ORPHA:280062 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Hypothyroidism, Finger syndactyly, Microtia, Delaye... |
ORPHA:2994 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Vesicoureteral reflux, Conotruncal defect, Abnormal cardiac septum morphology, Abnormal testis mo... |
ORPHA:96147 |
Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Frontal encephalocele, Microphthalmia, Optic nerve hypoplasia |
OMIM:218670 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short sternum, Nephroblastoma, Multicystic kidney dysplasia, Leukemia, Pulmonic stenosis, Hydroce... |
OMIM:257300 |
Amme Complex |
|
Hematuria |
OMIM:300194 |
Johnson Neuroectodermal Syndrome |
|
Conductive hearing impairment, Preaxial hand polydactyly, Hypogonadism, Microtia, Hand polydactyl... |
ORPHA:2316 |
Cherubism |
|
Dental malocclusion, Narrow palate, Jaw swelling, Oligodontia, Alveolar ridge overgrowth, Multipl... |
OMIM:118400 |
Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Ventricular septal defect, Short 5th m... |
OMIM:169400 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Chronic Mucocutaneous Candidiasis |
|
Hematuria, Recurrent urinary tract infections |
ORPHA:1334 |
Blepharocheilodontic Syndrome 1 |
|
Anal atresia, Clinodactyly, Cutaneous syndactyly, Neural tube defect |
OMIM:119580 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hyperuricemia, Nephritis, Decreased HDL cholesterol concentration, ... |
OMIM:203800 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Short foot, Small hand, Microphthalmia, De... |
OMIM:241410 |
Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Tetraphocomelia, Elbow flexion contracture, Long penis, ... |
OMIM:268300 |
Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Microphthalmia, Atrial septal defect, Brachydactyly |
OMIM:614526 |
Aase-Smith Syndrome I |
|
Ventricular septal defect, Hydrocephalus, Slender finger, Abnormal pinna morphology, Talipes equi... |
OMIM:147800 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Brachydactyly, Aortic valve stenosis, Short thumb, Pulmonic stenosis |
ORPHA:3449 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Micropenis |
OMIM:263520 |
Weill-Marchesani Syndrome 2 |
|
Patent ductus arteriosus, Short metatarsal, Broad phalanges of the hand, Ventricular septal defec... |
OMIM:608328 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Pearson Marrow-Pancreas Syndrome |
|
Malabsorption, Steatorrhea, Villous atrophy |
OMIM:557000 |
Cenani-Lenz Syndrome |
|
Hypothyroidism, Crossed fused renal ectopia, Foot oligodactyly, Finger syndactyly, Toe syndactyly... |
ORPHA:3258 |
Cerebrocostomandibular Syndrome |
|
Meningocele, Conductive hearing impairment, Multicystic kidney dysplasia, Ventricular septal defe... |
ORPHA:1393 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal dysplasia, Elevated amniotic fluid alpha-fetoprotein, Hypospadias, Renal insufficiency, Cho... |
ORPHA:96179 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Abnormal renal glomerulus morpholo... |
OMIM:137940 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Ketonuria, Highly elevated creatine kinase, Elevated circulating cre... |
OMIM:251900 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Dental malocclusion, High palate, Delayed eruption of teeth, Hypodontia, Bifid uvula |
OMIM:612350 |
Atelosteogenesis Type I |
|
Short long bone, Pulmonary hypoplasia, Short femur, Brachydactyly, Multiple renal cysts, Abnormal... |
ORPHA:1190 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Ventricular septal defect, Polysyndactyly of hallux |
OMIM:235750 |
Momo Syndrome |
|
Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Thick lower lip vermi... |
OMIM:157980 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Genu varum, Hip dislocation, Clinodactyly of the 5th finger, Pectus excavatum, Syndactyly, Brachy... |
OMIM:619451 |
Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Small hand, Ventricular septal defect, Pulmonary hypoplasia, Atrial septal ... |
OMIM:145420 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Mild proteinuria |
OMIM:619685 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Sensorineural hearing impairment, Renal tubular acidosis, Ventricular septal defect, Hydrocephalu... |
OMIM:619575 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Pyloric stenosis, Congenital shortened small intestine, Intestinal pseudo... |
OMIM:300048 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Renal dysplasia, Hepatosplenomegaly, Reduced renal corticomedullary diff... |
OMIM:266920 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Ventricular septal defect, Increased size of nasopharyngeal adenoids, A... |
OMIM:619769 |
Tempi Syndrome |
|
Increased hematocrit, Abnormality of the kidney, Intracranial hemorrhage, Polycythemia, Transudat... |
ORPHA:284227 |
Chromosome 13Q14 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Hip dislocation, Clinodactyly of the 5th finger,... |
OMIM:613884 |
Smith-Magenis Syndrome |
|
Gastroesophageal reflux, Renal hypoplasia/aplasia, Toe syndactyly, Hand polydactyly, Clinodactyly... |
ORPHA:819 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Conductive hearing impairment, Ventricular septal d... |
OMIM:106260 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Ventricular septal defect, Recurrent ... |
OMIM:300472 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Atrial septal defect, Pleural effusion, Microphthalmia, Chylothorax, Leukemia, Prot... |
ORPHA:2526 |
Exstrophy-Epispadias Complex |
|
Absent penis, Renal dysplasia, Bladder fistula, Abnormality of the ureter, Bifid penis, Vesicoure... |
ORPHA:322 |
Cerebrocostomandibular Syndrome |
|
Patent ductus arteriosus, Conductive hearing impairment, Ventricular septal defect, Elbow flexion... |
OMIM:117650 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:761 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:48431 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Short long bone, Pulmonary hypoplasia, Femoral bowing, Syndactyly, Pre... |
OMIM:615503 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Left ventricular hypertrophy, Microphthalmia |
OMIM:613153 |
Ethylene Glycol Poisoning |
|
Decreased urine output, Renal tubular epithelial necrosis, Hematuria, Renal insufficiency, Renal ... |
ORPHA:31826 |
Moderate Hemophilia A |
|
Hematuria |
ORPHA:169805 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hypothyroidism, Anemia, Tapered finger, Small han... |
OMIM:620005 |
Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
Specc1L-Related Hypertelorism Syndrome |
|
Patent ductus arteriosus, Short toe, Ventricular septal defect, Finger syndactyly, Clinodactyly o... |
ORPHA:1519 |
Peutz-Jeghers Syndrome |
|
Intussusception, Gastrointestinal carcinoma, Multiple gastric polyps, Clubbing of fingers, Clubbi... |
OMIM:175200 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Splenomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia, Pa... |
OMIM:235255 |
Degcags Syndrome |
|
Polydactyly, Abnormal renal cortex morphology, Toe syndactyly, Hepatosplenomegaly, Pneumonia, Hea... |
OMIM:619488 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Hip dysplasia, Hydrocephalus, Pulmonary hypoplasia, Abnormal sacroilia... |
ORPHA:2655 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Recurrent urinary tract infections, Unilater... |
OMIM:613680 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Crowded maxillary incisors, Narrow palate, Micrognathia, Abnormal palate morphology, Multiple une... |
ORPHA:2063 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Sensorineural hearing impairment, Finger syndactyly, Toe syndactyly, Abnormal metacarpal morpholo... |
ORPHA:3224 |
Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Supernumerary tooth, Open bite, H... |
ORPHA:1452 |
Larsen Syndrome |
|
Conductive hearing impairment, Accessory carpal bones, Ventricular septal defect, Spatulate thumb... |
OMIM:150250 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia, Hearing impairment, Abnormal s... |
ORPHA:2345 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Synophrys, Protein-losing enteropathy |
OMIM:618154 |
Brachydactyly Type B2 |
|
Short toe, Symphalangism affecting the phalanges of the hand, Finger syndactyly, Synostosis of ca... |
ORPHA:140908 |
Williams Syndrome |
|
Hypothyroidism, Aortic arch aneurysm, Precocious puberty, Hallux valgus, Abnormal cardiac septum ... |
ORPHA:904 |
Mowat-Wilson Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormality of the kidney, Supernumerary nip... |
OMIM:235730 |
Bernard-Soulier Syndrome |
|
Macroscopic hematuria, Partially duplicated kidney |
ORPHA:274 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Cranium bifidum occultum, Pectoral muscle... |
ORPHA:306542 |
Frontorhiny |
|
Camptodactyly of finger, Diabetes insipidus, Cranium bifidum occultum, Encephalocele, Basal encep... |
ORPHA:391474 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Decreased glomerular filtration rate, Proteinuria, Ren... |
OMIM:614748 |
Hall-Riggs Syndrome |
|
Wide mouth, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morpho... |
ORPHA:2107 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Asplenia, Ventricular septal defect, Camptodactyly, Clinodactyly o... |
OMIM:619123 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Uric acid nephrolithiasis, Hyperuricemia, Hypospadias, Renal insufficiency, Hyperur... |
OMIM:300661 |
Proteus Syndrome |
|
Metatarsus valgus, Hallux valgus, Hip dislocation, Abnormality of the wrist, Long penis, Buphthal... |
ORPHA:744 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia, Bilateral renal agenesis |
OMIM:619887 |
19P13.3 Microduplication Syndrome |
|
Hip subluxation, Precocious puberty, Ventricular septal defect, Microtia, Hip dysplasia, Clinodac... |
ORPHA:447980 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Infantile sensorineural hearing impairment, Camptodactyly, Pulmonary hypo... |
ORPHA:798 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, Ab... |
ORPHA:2973 |
Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia, Bilateral renal agenesis |
OMIM:615721 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Aplasia/Hypoplasia affecting the eye, Multicystic kidney dysplasia, Clubbing of... |
ORPHA:1318 |
Microcephaly-Micromelia Syndrome |
|
Short tibia, Absent thumb, Aqueductal stenosis, Humeroradial synostosis, Pulmonary hypoplasia, Ol... |
OMIM:251230 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Microtia, Pectus excavatum, Low-set ears, Cupped ear, Overfolded helix |
OMIM:609654 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Myoglobinuria, Hyperammonemia, Elevated circula... |
OMIM:609015 |
Knobloch Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Bifid ureter, Hydrocephalus, Dextrocardia, Occip... |
ORPHA:1571 |
Pancreatic Colipase Deficiency |
|
Fat malabsorption, Steatorrhea |
ORPHA:309108 |
Acute Promyelocytic Leukemia |
|
Hematuria |
ORPHA:520 |
Acute Intermittent Porphyria |
|
Urinary incontinence, Porphyrinuria, Urinary retention, Dysuria, Hyponatremia, Increased urinary ... |
ORPHA:79276 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Vesicoureteral reflux, Vascular dilatation, Dilatation of the ventricular cavity, Pneumothorax, R... |
ORPHA:90349 |
Castleman Disease |
|
Ureteral obstruction, Hematuria, Renal insufficiency |
ORPHA:160 |
Lamellar Ichthyosis |
|
Renal insufficiency |
ORPHA:313 |
Acrootoocular Syndrome |
|
Decreased palmar creases, Short toe, Conductive hearing impairment, Sensorineural hearing impairm... |
ORPHA:2980 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Dysphagia, Protein-losing ... |
ORPHA:2070 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Ventricular septal defect, Proximal place... |
ORPHA:1488 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy |
ORPHA:567983 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Hearing impairment, Microphthalmia, Micropenis, Rocker bottom foot |
OMIM:610756 |
Bohring-Opitz Syndrome |
|
Vesicoureteral reflux, Short toe, Tapered finger, Ventricular septal defect, Ulnar deviation of t... |
OMIM:605039 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Broad alveolar ridges, Facial hyperostosis, Mandibular prognathia, Delayed eruption of permanent ... |
OMIM:218400 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal hip bone morphology, Abnormality of the ureter, Microcephaly, Hypospadias |
ORPHA:2522 |
Sotos Syndrome |
|
Patent ductus arteriosus, Genu valgum, Conductive hearing impairment, Macrotia, Ventricular septa... |
OMIM:117550 |
Meningococcal Meningitis |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Sensorineural hearing impairment, Ventricular septal defect, Tapered finger, Perimembranous ventr... |
OMIM:301040 |
Proteus-Like Syndrome |
|
Hydrocephalus, Communicating hydrocephalus, Venous insufficiency, Polycystic ovaries, Abnormality... |
ORPHA:2969 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:269920 |
Johanson-Blizzard Syndrome |
|
Anemia, Sensorineural hearing impairment, Abnormal cardiac septum morphology, Hypoplasia of penis... |
ORPHA:2315 |
Split-Hand/Foot Malformation 2 |
|
Short phalanx of finger, Finger syndactyly, Short metacarpal, Split foot, Split hand |
OMIM:313350 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Short toe, Splenomegaly, Ventricular septal defect, Low-set ears, Mitra... |
ORPHA:955 |
Kbg Syndrome |
|
Bilateral conductive hearing impairment, Macrotia, Single transverse palmar crease, Cryptorchidis... |
ORPHA:2332 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
Galloway-Mowat Syndrome 9 |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis |
OMIM:619603 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Isosexual precocious puberty, Abnormal lower limb bone morphology, Abnormal ... |
ORPHA:2788 |
Congenital Myopathy 17 |
|
Hand clenching, Respiratory tract infection, Tapered finger, High palate, Clinodactyly, Pulmonary... |
OMIM:618975 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Supernumerary nipple, Atrial septal defect, ... |
ORPHA:2519 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Enamel hypoplasia, High palate, Prominent frontal sinuses, Micrognathia, Oligodontia, Dental crow... |
OMIM:170390 |
Gm1 Gangliosidosis |
|
Patent ductus arteriosus, Camptodactyly of finger, Macrotia, Aspiration pneumonia, Ventricular se... |
ORPHA:354 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Hypercalcemia, Nephrocalcinosis, R... |
ORPHA:99880 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular aortic stenosis, Cryptorchidism |
ORPHA:1338 |
Microphthalmia, Syndromic 8 |
|
Split foot, Microphthalmia, Cryptorchidism |
OMIM:601349 |
Short Stature-Micrognathia Syndrome |
|
2-3 toe syndactyly, Broad femoral neck, Coxa valga, Ventricular septal defect, Bowing of the legs... |
OMIM:617164 |
Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect, Anotia, Microtia |
OMIM:243440 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal intestine morphology, Enterocolitis, Esophageal carcinoma, Villous atrophy |
ORPHA:391487 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Ventricular septal defect, Pectus exc... |
ORPHA:52055 |
Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Clinodactyly of the 5th finger, Brachydactyly, Spina bifida occult... |
ORPHA:1786 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Hypothyro... |
ORPHA:453499 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Bilateral ... |
OMIM:607597 |
Chime Syndrome |
|
Pulmonary valve atresia, Aplastic clavicle, Ventricular septal defect, Short foot, Abnormality of... |
ORPHA:3474 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Sensorineural hearing impairment, Ventricular septal defect, Epiphy... |
ORPHA:912 |
Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia, Bone marrow hypocellularity |
OMIM:609054 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease |
OMIM:618821 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Foot polydactyly, Broad thumb, Micr... |
ORPHA:1553 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Increased circulating ferritin concentration, Splenomegaly, Hepatomegaly |
OMIM:194380 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Renal angiomyolipoma, Hydrocephalus, Hematuria, Chylopericardium, Emphysema, Renal ... |
ORPHA:538 |
Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Acute kidney injury, Hypernatremia, Hypoc... |
ORPHA:94093 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Perianal dermatitis, Cleft palate... |
OMIM:619573 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, My... |
ORPHA:423 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Hearing impairment, Ventricular septal defect |
OMIM:616277 |
Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Patent foramen ovale, Congenital finger flexion contractures, Ventricular s... |
OMIM:615582 |
Scrub Typhus |
|
Renal insufficiency, Splenomegaly |
ORPHA:83317 |
Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Porphyrinuria, Neurogenic bladder, Hyponatremia, In... |
ORPHA:79473 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... |
ORPHA:85451 |
Eiken Syndrome |
|
Eruption failure, Thick lower lip vermilion, Oligodontia, Short philtrum, Multiple unerupted teet... |
OMIM:600002 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Microphthalmia, Chylothorax, Tetralogy of Fa... |
OMIM:153400 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Hypoalbuminemia |
OMIM:610965 |
Joubert Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:608629 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Dextrotransposition of the great arteries, Ventricular septal defect, Brachydactyly |
OMIM:619995 |
Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
Bent Bone Dysplasia Syndrome 1 |
|
Micrognathia, Malar flattening, Gingival overgrowth, Natal tooth |
OMIM:614592 |
Familial Visceral Myopathy |
|
Camptodactyly of finger, Vesicoureteral reflux, Arachnodactyly, Hydroureter, Aganglionic megacolo... |
ORPHA:2604 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Hip dislocation, Camptodactyly, Pectus excavatum, Rocker bottom foot, Posteriorly... |
OMIM:613458 |
Mgat2-Cdg |
|
Patent ductus arteriosus, Ventricular septal defect, Prominent antihelix, Abnormality of the endo... |
ORPHA:79329 |
Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Oliguria, Hyponatr... |
ORPHA:31824 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal finger morphology, Aplasia of the pe... |
ORPHA:3138 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Anemia, Hydrocephalus, Lymphadenopathy, Abnormal pulmonary valve morphology, Pulmon... |
ORPHA:667 |
7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Aortic aneurysm, Hydrocephalus, Unilateral r... |
ORPHA:96121 |
Peroxisome Biogenesis Disorder 1B |
|
Renal cyst, Hyperoxaluria, Hepatomegaly |
OMIM:601539 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Cockayne Syndrome Type 3 |
|
Aortic root aneurysm, Cardiomyopathy, Conductive hearing impairment, Renal insufficiency, Macroti... |
ORPHA:90324 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Stage 3 chronic kidney disease, Hypophosphatemia, Medullary nephrocalcinosi... |
OMIM:619743 |
Pycnodysostosis |
|
Enamel hypoplasia, Dental malocclusion, Obtuse angle of mandible, High palate, Delayed eruption o... |
ORPHA:763 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Enamel hypoplasia, Microdontia, Oligodontia, Persistence of p... |
OMIM:618727 |
Parathyroid Carcinoma |
|
Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Hypercalcemia, Nephrocalcinosis, R... |
ORPHA:143 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypodontia, Oligodontia, Natal tooth |
OMIM:601345 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary aminoisobutyric acid, Elevated urinary 3-hydroxybutyric acid, Broad hallux, Sing... |
OMIM:614105 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Microphthalmia, 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 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Systemic Sclerosis |
|
Acute kidney injury, Abnormality of the kidney, Elevated circulating creatine kinase concentratio... |
ORPHA:90291 |
Mowat-Wilson Syndrome |
|
Asplenia, Conductive hearing impairment, Tapered finger, Hallux valgus, Abnormal cardiac septum m... |
ORPHA:2152 |
Opitz Gbbb Syndrome |
|
Aortic root aneurysm, Vesicoureteral reflux, Patent ductus arteriosus, Patent foramen ovale, Abno... |
ORPHA:2745 |
Three M Syndrome 2 |
|
Dental malocclusion, High palate, Long philtrum, Delayed eruption of teeth, Malar flattening, Thi... |
OMIM:612921 |
Aarskog-Scott Syndrome |
|
Short 5th finger, Short foot, Hyperextensibility of the finger joints, Bilateral cryptorchidism, ... |
OMIM:305400 |
Pulmonary Capillary Hemangiomatosis |
|
Hemothorax, Pulmonary edema, Pericardial effusion, Pulmonary capillary hemangiomatosis, Clubbing ... |
ORPHA:199241 |
Boutonneuse Fever |
|
Renal insufficiency |
ORPHA:83313 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
3Mc Syndrome 1 |
|
Patent ductus arteriosus, Conductive hearing impairment, Short 5th finger, Ventricular septal def... |
OMIM:257920 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Single transverse palmar crease, Abnormality of medullary pyramid morphology, Ventricular septal ... |
ORPHA:79243 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Encephalocele, Ventricular septal defect, Microtia |
ORPHA:398156 |
Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Renal insufficiency, Focal segmenta... |
OMIM:251300 |
Trichorhinophalangeal Syndrome, Type I |
|
Dental malocclusion, Narrow palate, Long philtrum, Deep philtrum, Delayed eruption of teeth, Micr... |
OMIM:190350 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Hypoplasia of the thymus, Ventricular septal defect, Type I diabetes mellitus, Congenital pulmona... |
ORPHA:436252 |
Hand-Foot-Genital Syndrome |
|
Vesicoureteral reflux, Pyelonephritis, Hypospadias, Ureteropelvic junction obstruction, Renal ins... |
OMIM:140000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Vesicoureteral reflux, Gastroesophageal reflux, High palate, Renal dysplasia, Bladder trabeculati... |
OMIM:614080 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase leve... |
OMIM:300908 |
Mend Syndrome |
|
2-3 toe syndactyly, Abnormal auditory evoked potentials, Hydrocephalus, Hand polydactyly, Overlap... |
ORPHA:401973 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Renal hypoplasia/aplasia, Hypop... |
ORPHA:958 |
Isolated Sedoheptulokinase Deficiency |
|
Abnormal renal tubule morphology, Renal insufficiency |
ORPHA:440713 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, Mandibular prognathia, High palate |
OMIM:262190 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Summitt Syndrome |
|
Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Finger syndactyly, Clinodactyly of th... |
ORPHA:3210 |
Cerebellar-Facial-Dental Syndrome |
|
Ascending tubular aorta aneurysm, Tapered finger, Ventricular septal defect, Slender long bone, M... |
ORPHA:444072 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent thumb, Hydrocephalus, Renal agenesis, Ectopic kidney, Horseshoe kidney, Absent radius, Bow... |
OMIM:602200 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Palmoplantar hyperkeratosis, Abnormality of the ureter, Bilate... |
ORPHA:3253 |
Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Proteinuria, Chordee |
OMIM:300519 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Bilateral renal agenesis, Arrhinencephaly, Microcephaly, Renal hypoplasia, Hyp... |
OMIM:617914 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Atrial septal defect, Pectus excavatum, Cryptorc... |
OMIM:615102 |
Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Renal insufficiency, Splenomegaly, Hepatomegaly |
OMIM:251290 |
Osteoglosphonic Dysplasia |
|
Micrognathia, Multiple unerupted teeth, Tooth agenesis |
ORPHA:2645 |
Fabry Disease |
|
Glomerulopathy, Nephrotic syndrome, Abnormal renal tubule morphology, Hematuria, Nephropathy, Pro... |
ORPHA:324 |
Acquired Von Willebrand Syndrome |
|
Hematuria |
ORPHA:99147 |
Severe Hemophilia A |
|
Macroscopic hematuria |
ORPHA:169802 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Pancreatic cysts, Anemia, Abnormality of adrenal morphology, Abn... |
ORPHA:284 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Taurodontia, Short philtrum, High, narrow palate, Macrodontia |
ORPHA:3214 |
Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Abnormal pelvic girdle bone morphology, Abnormal shoulder morpholog... |
ORPHA:2115 |
Tuberous Sclerosis 2 |
|
Hypothyroidism, Precocious puberty, Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:613254 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Natal tooth, Short philtrum, Cleft palate |
OMIM:201050 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Tapered finger, Clinodactyly, Down-sloping shoulders, Renal cyst, Scapular winging, Mixed hearing... |
OMIM:615560 |
Leigh Syndrome With Leukodystrophy |
|
Hypertrophic cardiomyopathy, Hearing impairment, Ventricular septal defect, Anemia |
ORPHA:255241 |
Pfeiffer Syndrome Type 2 |
|
High palate, Aqueductal stenosis, Finger syndactyly, Small hand, Toe syndactyly, Hydrocephalus, A... |
ORPHA:93259 |
Cri-Du-Chat Syndrome |
|
Gastroesophageal reflux, High palate, Short metacarpal, Abnormality of the kidney, High axial tri... |
OMIM:123450 |
Multiple Myeloma |
|
Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder, Nephropathy, Hypercalcemia, ... |
ORPHA:29073 |
Buschke-Ollendorff Syndrome |
|
Renal insufficiency |
ORPHA:1306 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Arteriovenous malformation, Toe syndactyly, Foot polydactyly, Hydrocephalus, H... |
ORPHA:60040 |
Congenital Factor X Deficiency |
|
Hematuria |
ORPHA:328 |
Prune Belly Syndrome |
|
Congenital posterior urethral valve, Hydroureter, Anal atresia, Congenital hip dislocation, Xeros... |
OMIM:100100 |
Tuberous Sclerosis 1 |
|
Hypothyroidism, Precocious puberty, Renal angiomyolipoma, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:191100 |
Developmental And Epileptic Encephalopathy 1 |
|
Micropenis, Microphthalmia |
OMIM:308350 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Oligodontia, Natal tooth, Delayed eruption of teeth |
OMIM:614381 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Sensorineural hearing impairment, Short metacarpal, Camptodactyly, Absent palmar crease, Syndacty... |
OMIM:614230 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome |
ORPHA:139402 |
Warburg Micro Syndrome 2 |
|
Macrotia, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Overlapping toe, Asymmetry of... |
OMIM:614225 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Anencephaly, Hydrocephalus, Pulmonary hypoplasia, Preaxial polydactyly, Cleft ... |
OMIM:616546 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Syndactyly, Tapered finger, Clinodactyly of the 5th finger |
OMIM:618725 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Hyperaldosteronism, Ventricular septal defect, Intracranial hemorrhage, ... |
ORPHA:369929 |
Trisomy 10P |
|
Absent gallbladder, Short toe, Contracture of thumb, Macrotia, Abnormal auditory evoked potential... |
ORPHA:171929 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Hydrocephalus, Pulmonar... |
ORPHA:1865 |
Chromosome 17Q12 Deletion Syndrome |
|
Ovarian cyst, Multicystic kidney dysplasia, Upper limb undergrowth, Short foot, Hypoplasia of the... |
OMIM:614527 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Gonadotropin deficiency, Ventricular... |
OMIM:610978 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Patent ductus arteriosus, Finger syndactyly, Toe syndactyly, Persistent cloaca, Renal hypoplasia/... |
ORPHA:1112 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Hypomelanosis Of Ito |
|
Clinodactyly, Hand polydactyly, Syndactyly, Radial deviation of finger, Microcephaly |
OMIM:300337 |
Femur-Fibula-Ulna Complex |
|
Abnormality of the elbow, Finger syndactyly, Humeroradial synostosis, Abnormal morphology of ulna... |
ORPHA:2019 |
Coffin-Lowry Syndrome |
|
Narrow palate, High palate, Wide mouth, Widely spaced teeth, Delayed eruption of teeth, Thick low... |
ORPHA:192 |
Diamond-Blackfan Anemia 1 |
|
Triphalangeal thumb, Absent thumb, Ventricular septal defect, Hypoplastic ilia, Reticulocytopenia... |
OMIM:105650 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Fontaine Progeroid Syndrome |
|
Conductive hearing impairment, Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia... |
OMIM:612289 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentration |
ORPHA:79126 |
Pelvis-Shoulder Dysplasia |
|
Hypoplastic acetabulae, Hypoplastic ilia, Clinodactyly of the 5th finger, Spina bifida occulta, C... |
OMIM:169550 |
Snakebite Envenomation |
|
Acute kidney injury, Hyponatremia |
ORPHA:449285 |
Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Microphthalmia, Retinal arteriolar occlusion |
OMIM:193220 |
Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Polycystic ovaries, Hepatomegaly, Proteinuria, Hypertri... |
ORPHA:79086 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Patent ductus arteriosus, Hypoplasia of penis, Ventricular septal defect, Cryptorchidism |
ORPHA:452 |
Restrictive Dermopathy |
|
Patent ductus arteriosus, Camptodactyly of finger, Ascending tubular aorta aneurysm, Short umbili... |
ORPHA:1662 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:1782 |
Mucoepithelial Dysplasia, Hereditary |
|
Hematuria |
OMIM:158310 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Aqueductal stenosis, Microtia, Renal hypoplasia/aplasia, Arrhinencephaly, Radi... |
ORPHA:1788 |
Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Metaphyseal cupping, Abnormal carpal morphology, Short foot, Pulmonary hypoplasia, Hy... |
ORPHA:85166 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Cryptorchidism |
OMIM:616816 |
Cantú Syndrome |
|
Patent ductus arteriosus, Coxa valga, Finger syndactyly, Abnormal metaphysis morphology, Hypertro... |
ORPHA:1517 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Orofaciodigital Syndrome Type 1 |
|
Pancreatic cysts, Short toe, Vascular dilatation, Multicystic kidney dysplasia, Preaxial hand pol... |
ORPHA:2750 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Mitten deformity, Anemia, Multicystic kidney dysplasia, Pneumothorax, Abnormal fingertip morpholo... |
ORPHA:79404 |
Frontometaphyseal Dysplasia |
|
Short diaphyses, Wrist flexion contracture, Short phalanx of finger, Camptodactyly of finger, Elb... |
ORPHA:1826 |
Kabuki Syndrome 1 |
|
Premature thelarche, Short 5th finger, Recurrent aspiration pneumonia, Hearing impairment, Poster... |
OMIM:147920 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Aminoaciduria, Abnormal renal tubule morphology, Hematuria, Proximal renal tubula... |
ORPHA:534 |
Cocaine Intoxication |
|
Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Glomerulonephritis, Proteinuria |
ORPHA:90068 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Hypospadias, Microcephaly, Cleft palate |
ORPHA:66629 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of cartilage of external ear, Bilateral microphthalmo... |
ORPHA:2399 |
Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Delayed eruption of primary teeth, Hypodontia, Micrognathia, Narrow mouth, Smoo... |
OMIM:619322 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Malabsorption, Acholic stools, Intestinal malrotation, Anteriorly placed anus, M... |
OMIM:615710 |
Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Splenomegaly, Hypersplenism, Syndactyly, Right ventricular hypertrophy, Bra... |
OMIM:616028 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
2-3 toe syndactyly, Supernumerary nipple, Single transverse palmar crease, Microphthalmia, Joint ... |
OMIM:620098 |
Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Patent foramen ovale, Absent thumb, Hypoplastic iliac wing, Short metaca... |
OMIM:263650 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:212140 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral micropht... |
ORPHA:137902 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Cupped ear, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
Orofaciodigital Syndrome Type 6 |
|
Conductive hearing impairment, Foot polydactyly, Renal hypoplasia/aplasia, Mesoaxial polydactyly,... |
ORPHA:2754 |
20P13 Microdeletion Syndrome |
|
Polydactyly, Hypoplastic helices, Finger syndactyly, Clinodactyly, Abnormal pinna morphology, Bra... |
ORPHA:313781 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Glycosuria, Renal Fanconi syndrome, Stage 5 chronic kidney disease |
OMIM:268315 |
Nance-Horan Syndrome |
|
Short metacarpal, Microphthalmia, Protruding ear |
ORPHA:627 |
Criss-Cross Heart |
|
Ventricular septal defect, Abnormal mitral valve morphology, Mitral stenosis, Tricuspid stenosis,... |
ORPHA:1461 |
Baraitser-Winter Syndrome 2 |
|
Hearing impairment, Microphthalmia, Abnormal pinna morphology |
OMIM:614583 |
Filippi Syndrome |
|
Finger syndactyly, Ventricular septal defect, Enlarged epiphyses, Clinodactyly of the 5th toe, Cl... |
ORPHA:3255 |
Zimmermann-Laband Syndrome 1 |
|
Aortic root aneurysm, Patent ductus arteriosus, Splenomegaly, Aortic arch aneurysm, Hyperextensib... |
OMIM:135500 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Cystic renal dysplasia, Hydronephrosis |
OMIM:615989 |
Momo Syndrome |
|
Thick upper lip vermilion, Dental malocclusion, High palate, Long philtrum, Delayed eruption of t... |
ORPHA:2563 |
Ohdo Syndrome, X-Linked |
|
Long thumb, Microtia, Hip dysplasia, Clinodactyly, Overlapping toe, Hearing impairment, Microphth... |
OMIM:300895 |
Fibromuscular Dysplasia, Multifocal |
|
Pulmonary artery aneurysm, Tortuous cerebral arteries, Celiac artery dissection, Arterial fibromu... |
OMIM:619329 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Elevated circulating creatine kinase concentration, Polycystic ovaries, H... |
ORPHA:79240 |
Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Glomerulopathy, Hydrocephalus, Clinodactyly, Syndactyly, Microcephaly,... |
ORPHA:2169 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Syndactyly, Split foot, Short finger, Hypoplasia of the ulna |
OMIM:314360 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Elevated circulating creatine kinase concentration, Polycystic ovaries, H... |
ORPHA:370 |
46,Xx Sex Reversal 5 |
|
Urogenital sinus anomaly, Increased serum testosterone level, Ventricular septal defect, Secundum... |
OMIM:618901 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst |
ORPHA:480536 |
Hennekam Syndrome |
|
Camptodactyly of finger, Conductive hearing impairment, Finger syndactyly, Arteriovenous malforma... |
ORPHA:2136 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular prognathia, Persistence of primary teeth, Mandibular osteomyelitis |
OMIM:259710 |
Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Hypoplastic ilia, Short long bone, Hydrocephalus, Pulmonary hypoplasia,... |
OMIM:187600 |
Klippel-Trenaunay-Weber Syndrome |
|
Hand polydactyly, Hand oligodactyly, Syndactyly, Arteriovenous fistula, Macrodactyly, Lymphangioma |
OMIM:149000 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Hypona... |
ORPHA:90038 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Optic nerve hypoplasia, Microphthalmia, Occipital encephalocele, Cardiomyopathy |
ORPHA:370959 |
Williams-Beuren Syndrome |
|
Hypothyroidism, Coronary artery stenosis, Hallux valgus, Retinal arteriolar tortuosity, Pectus ex... |
OMIM:194050 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal diaphysis morpholog... |
ORPHA:1515 |
Oculodentodigital Dysplasia |
|
Conductive hearing impairment, Short middle phalanx of the 5th finger, Neurogenic bladder, 4-5 fi... |
OMIM:164200 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Renal cortical cysts, Recurrent aspiration pneumonia, Renal dysplasia, Supernumerary... |
ORPHA:397715 |
Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
Mohr Syndrome |
|
Lobulated tongue, Metaphyseal irregularity, Preaxial hand polydactyly, Bifid tongue, High palate,... |
OMIM:252100 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypothyroidism, Precocious puberty, Pineal cyst, Primary adrenal insufficiency, Pectus excavatum,... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Pineal cyst, Primary adrenal insufficiency, Pectus excavatum,... |
ORPHA:363958 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, High palate, Ketonuria, Syndactyly, Umbilical hernia |
OMIM:614520 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria |
OMIM:618250 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:607155 |
Autoerythrocyte Sensitization Syndrome |
|
Hematuria |
ORPHA:324636 |
Joubert Syndrome 6 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:610688 |
Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:2318 |
Distal 22Q11.2 Microduplication Syndrome |
|
Patent ductus arteriosus, Abnormal antihelix morphology, Camptodactyly of finger, Tapered finger,... |
ORPHA:261337 |
Pierson Syndrome |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoproteinemia, Diffuse mesangial sclerosis,... |
OMIM:609049 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hypoperistalsis, Abnormality of the gastrointestinal tract, Hydrour... |
ORPHA:2241 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
External ear malformation, Hypospadias, Upper limb asymmetry, Microphthalmia, Cryptorchidism, Low... |
ORPHA:2505 |
Curry-Jones Syndrome |
|
Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot polydactyly, Lipomyelomeningocele... |
OMIM:601707 |
Cholera |
|
Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Hypokalemia, Abnorma... |
ORPHA:173 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Proximal symphalangism of hands, Humeroradial synostosis, Hyperextensibility of the finger joints... |
OMIM:151050 |
Donnai-Barrow Syndrome |
|
Non-acidotic proximal tubulopathy, Proteinuria |
OMIM:222448 |
Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Nephroblastoma, Thickened ears, Hydrocephalus, Pectus excavatum, Cardia... |
ORPHA:77301 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Conductive hearing impairment, Preaxial hand polydactyly, Ventricular septal defect, Microtia, At... |
OMIM:610536 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Metaphyseal irregularity, Coxa vara, Short metacarpal, Hypoplastic ilia,... |
ORPHA:85167 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria |
ORPHA:220393 |
8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Abnormal metacarpal morphology, Hypoplasia of penis, ... |
ORPHA:284160 |
Fraser Syndrome 3 |
|
Ureteral agenesis, Short toe, Hypoplasia of the bladder, Bilateral renal agenesis, Abnormal lung ... |
OMIM:617667 |
Severe Congenital Nemaline Myopathy |
|
Pulmonary hypoplasia, Adducted thumb, Hypospadias, Dysphagia, Micropenis |
ORPHA:171430 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Brain-Lung-Thyroid Syndrome |
|
Vesicoureteral reflux, Patent foramen ovale, Abnormal pulmonary interstitial morphology, Sensorin... |
ORPHA:209905 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Oligodontia, Delayed eruption of teeth |
ORPHA:447896 |
Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:220497 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Epiphyseal stippling, Abnormal pelvic girdle bone morphology, Tarsal stippling, Stippled calcific... |
OMIM:302960 |
Postaxial Acrofacial Dysostosis |
|
Midgut malrotation, Hypoplasia of the radius, Abnormality of the kidney, Pyloric stenosis, Radiou... |
OMIM:263750 |
Gaucher Disease Type 3 |
|
Proteinuria, Hematuria |
ORPHA:77261 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment, Ventricular septal defect, Abnor... |
OMIM:214300 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Ventricular septal defect, Atrial septal defect |
ORPHA:357225 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Ventricular septal defect, Reticulocytopenia, Erythroid hypoplasia, Hypospadias, Macr... |
OMIM:612528 |
Pfeiffer Syndrome Type 1 |
|
Hallux varus, Aplasia/Hypoplasia of the thumb, Aqueductal stenosis, Short foot, Finger syndactyly... |
ORPHA:93258 |
Fanconi Anemia, Complementation Group L |
|
Absent thumb, Anemia, Anotia, Microtia, Bilateral talipes equinovarus, Hydrocephalus, Unilateral ... |
OMIM:614083 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Hematuria, Ureteral stenosis, Proteinuria, Renal insufficiency, Hydronephrosis |
ORPHA:900 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Atrial septal defect, Coarctation of a... |
OMIM:244450 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Left ventricular hypertrophy, Hypospadias, Renal insufficiency, Hydron... |
OMIM:611209 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Nephropathy, Hepatomegaly, Renal insufficiency, Splenomegaly |
ORPHA:1454 |
Atelosteogenesis Type Ii |
|
Short phalanx of finger, Ulnar deviation of the hand or of fingers of the hand, Elbow flexion con... |
ORPHA:56304 |
Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, E... |
ORPHA:59315 |
Cerebrofacioarticular Syndrome |
|
Conductive hearing impairment, Microtia, Caudal appendage, Camptodactyly, Syndactyly, Hypospadias... |
ORPHA:314679 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Hypothyroidism, Conductive hearing impairment, Hypoplasia of proximal radius, Cu... |
ORPHA:444077 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypotriglyceridemia |
OMIM:618885 |
Noonan Syndrome 1 |
|
Patent ductus arteriosus, Sensorineural hearing impairment, Ventricular septal defect, Hypogonadi... |
OMIM:163950 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Beta 2-microglobulinuria, Re... |
ORPHA:91500 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal antihelix morphology, Camptodac... |
ORPHA:3047 |
Weill-Marchesani Syndrome 1 |
|
Patent ductus arteriosus, Broad phalanges of the hand, Ventricular septal defect, Broad metatarsa... |
OMIM:277600 |
Helsmoortel-Van Der Aa Syndrome |
|
Enlarged kidney, Enuresis nocturna, Recurrent urinary tract infections |
OMIM:615873 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Carious teeth, Cleft palate, Open ... |
ORPHA:96263 |
Stromme Syndrome |
|
Hydrocephalus, Optic nerve hypoplasia, Preaxial polydactyly, Microphthalmia, Bilateral renal hypo... |
OMIM:243605 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth, Pulmonary hypoplasia |
OMIM:613124 |
Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Nephrolithiasis |
ORPHA:774 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Hyperkalemia, Renal salt wasting, Increased circulating renin level, Hypercalcemia... |
ORPHA:95409 |
16P13.11 Microdeletion Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Sensorineural hearing impairment, Ventricular septal ... |
ORPHA:261236 |
Hellp Syndrome |
|
Acute kidney injury, Hemoglobinuria, Proteinuria |
ORPHA:244242 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Short metacarpal, Clinodactyly, Radioulnar synostosis, Carpal synostosis, Brachydactyly, Syndacty... |
OMIM:605282 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Widely spaced teeth, Advanced eruption of teeth, Everted lower lip vermilion, Downturned corners ... |
OMIM:617865 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Short long bone, Pulmonary hypoplasia, Microcephaly, Occipital encephalocele, Neonatal death, Bow... |
OMIM:224410 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Clinodactyly, Microphthalmia, Proximal placement of thumb, Ovarian carcinoma, Ovarian neo... |
OMIM:617883 |
Premature Aging Syndrome, Penttinen Type |
|
Sensorineural hearing impairment, Short foot, Elevated circulating thyroid-stimulating hormone co... |
OMIM:601812 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Retrognathia, Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate, ... |
ORPHA:2780 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Anemia, Hepatic arteriovenous malformation, Cerebral arteriovenous malformation, Pulmonary arteri... |
OMIM:175050 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Recurrent bronc... |
OMIM:208900 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Hypocalcemia, Elevated circulating creatine kinase concentrat... |
ORPHA:36234 |
Raine Syndrome |
|
High palate, Hydroureter, Long hallux, Hydrocephalus, Pulmonary hypoplasia, Protruding tongue, Mi... |
OMIM:259775 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Patent ductus arteriosus, Ventricular septal defect, Coronary artery fistula, Unilateral renal ag... |
OMIM:620024 |
Lethal Congenital Contracture Syndrome 11 |
|
Pulmonary hypoplasia |
OMIM:617194 |
Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Microphthalmia, Atrial septal defect |
ORPHA:1915 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the elbow, Renal dysplasia, Hypoplasia of the radius... |
ORPHA:3015 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Coffin-Siris Syndrome |
|
Patent ductus arteriosus, Short 5th finger, Ventricular septal defect, Aspiration pneumonia, Clin... |
ORPHA:1465 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Arachnodactyly, High palate, Patellar aplasia, Talipes equinovarus, Camptodactyly, Hip dislocatio... |
OMIM:265000 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Intestinal malrotation, Hydroureter, Fetal megacystis |
OMIM:249210 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:728 |
Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Dilated cardiomyopathy, Coarctation of aorta, Delayed puberty, Decreas... |
OMIM:614921 |
Marshall-Smith Syndrome |
|
Bilateral conductive hearing impairment, Hallux valgus, Recurrent aspiration pneumonia, Cholestea... |
OMIM:602535 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Elevated circulating creatine kinase... |
OMIM:616878 |
Arboleda-Tham Syndrome |
|
Recurrent aspiration pneumonia, Secundum atrial septal defect, Prominent antihelix, Pectus excava... |
OMIM:616268 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Elevated circulating creatine kinase concentration, Polycystic ovaries, H... |
ORPHA:264580 |
Tetrasomy 5P |
|
High palate, Wide anterior fontanel, Hydrocephalus, Clinodactyly of the 5th finger, Pulmonary hyp... |
ORPHA:3309 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Hypogonadism, Hypoplasia of penis, Microphthalmia, Cryptorchidism |
ORPHA:2250 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hydrocephalus, Microphthalmia, Optic nerve hypoplasia |
OMIM:615181 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open mouth, Open bite |
ORPHA:950 |
Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, Duodenal ulcer, Villous atrophy, Gastritis, Colitis, Anoperineal fistula |
OMIM:619381 |
Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Epispadias, Abnormality of the bladder, Abnormality of the ureter, Hypospa... |
ORPHA:3339 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Conductive hearing impairment, Preaxial hand polydactyly, Ventricular se... |
ORPHA:2710 |
Trisomy 9P |
|
Non-midline cleft lip, Downturned corners of mouth, Impacted tooth, Dental crowding |
ORPHA:236 |
Acrocallosal Syndrome |
|
Tapered finger, Toe syndactyly, Bifid uvula, Duplication of phalanx of hallux, Postaxial hand pol... |
OMIM:200990 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Taurodontia, Carious teeth, Cleft palate, Open ... |
ORPHA:96264 |
Mercury Poisoning |
|
Acute kidney injury, Hypokalemia |
ORPHA:330021 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus |
OMIM:612782 |
Warburg Micro Syndrome 3 |
|
Macrotia, Decreased testicular size, Clinodactyly of the 5th finger, Microphthalmia, Micropenis |
OMIM:614222 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hemolytic-uremic syndrome, Methylmalonic aciduria, Glomerulopathy, Methylmalonic acidemia, Ketonu... |
ORPHA:79282 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
2-3 toe syndactyly, Tapered finger, Low-set ears, Microtia, Long fingers, Clinodactyly of the 5th... |
OMIM:616734 |
Micro Syndrome |
|
Macrotia, Hypoplasia of penis, Delayed puberty, Microphthalmia, Abnormal localization of kidney, ... |
ORPHA:2510 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Macrotia, Microphthalmia, Ventricular septal defect |
OMIM:234050 |
Pachyonychia Congenita |
|
Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth |
ORPHA:2309 |
Oeis Complex |
|
Duplicated colon, Myelomeningocele, Vesicovaginal fistula, Hydroureter, Renal agenesis, Hydroceph... |
OMIM:258040 |
Pontocerebellar Hypoplasia, Type 8 |
|
Patent foramen ovale, Ventricular septal defect, Posteriorly rotated ears, Low-set ears, Talipes ... |
OMIM:614961 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Mitral valve prolapse, Unilateral microphthalmos, Pectus excavatum, Adducted thum... |
OMIM:618874 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Oliguria, Microscopic hematuria |
ORPHA:319213 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Hypogonadism, Microphthalmia, Cryptorchidism, Low-set ears |
ORPHA:228390 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Glycosuria, Abnormal circu... |
ORPHA:2298 |
Craniolenticulosutural Dysplasia |
|
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Bifid uvula, Thin upper lip ve... |
OMIM:607812 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Atrial septal defect, Pectus excavatum, Hypertrophic cardiomyopathy, P... |
OMIM:615279 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Tetraamelia Syndrome 1 |
|
Urethral atresia, Peripheral pulmonary vessel aplasia, Asplenia, Adrenal gland agenesis, Hydrocep... |
OMIM:273395 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Small hand, Ventricular septal defect, Bilateral talipes equinovarus, Decreased testicular size, ... |
ORPHA:251028 |
Hughes-Stovin Syndrome |
|
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis |
ORPHA:228116 |
Scalp-Ear-Nipple Syndrome |
|
2-3 toe syndactyly, Breast aplasia, Anteverted ears, Cupped ear, Posteriorly rotated ears, Underd... |
OMIM:181270 |
Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Short 4th metacarpal, Cardiac rhabdomyoma, Spina bifida, Hydrocephalus,... |
OMIM:109400 |
Tatton-Brown-Rahman Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Optic nerve hypoplasia, U... |
OMIM:615879 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Deafness, X-Linked 7 |
|
Hearing impairment, Unilateral microphthalmos, Posteriorly rotated ears, Atresia of the external ... |
OMIM:301018 |
Yunis-Varon Syndrome |
|
Short 2nd finger, Absent thumb, Tapered finger, Tapered toe, Toe syndactyly, Hip dislocation, Pal... |
OMIM:216340 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Hypoplastic nipples, Pectus excavatum, Microphthalmia, Low-set ears, Long fingers, Overfolded hel... |
OMIM:156610 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Sensorineural hearing impairment, Ventricular septal defect, Coarctation of... |
OMIM:618748 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Hypothyroidism, Conductive hearing impairment, Short 5th finger, Camptod... |
OMIM:607872 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Microcephaly |
OMIM:619091 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Delayed eruption of teeth, Widely spaced teeth, Micrognathi... |
ORPHA:1071 |
D-Bifunctional Protein Deficiency |
|
Splenomegaly, Primary adrenal insufficiency, Pectus excavatum, Renal cyst, Bile duct proliferatio... |
OMIM:261515 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Cutaneous finger syndactyly, Elbow flexion contractur... |
OMIM:178110 |
Neurocardiofaciodigital Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Polydactyly, Atrial septal defect, Syndactyly, D... |
OMIM:619869 |
Frontonasal Dysplasia 3 |
|
Low-set ears, Microphthalmia, Posteriorly rotated ears |
OMIM:613456 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Tapered finger, Ventricular septal defect, Small hand, Hip dysplasia, 1-2 toe syndactyly, Clinoda... |
OMIM:301044 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hydrocephalus, Microphthalmia, Hypogonadism, Cryptorchidism |
OMIM:601794 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Persistence of primary teeth, High palate, Supernumerary tooth |
OMIM:619752 |
Desbuquois Dysplasia 2 |
|
Short phalanx of finger, Genu varum, Advanced ossification of carpal bones, Coxa valga, Short met... |
OMIM:615777 |
Cutis Laxa, Autosomal Dominant 1 |
|
Bronchiectasis, Ventricular septal defect, Peripheral pulmonary artery stenosis, Emphysema |
OMIM:123700 |
Cornelia De Lange Syndrome |
|
Conductive hearing impairment, Toe syndactyly, Hip dislocation, Elbow dislocation, Pectus excavat... |
ORPHA:199 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Aortic arch aneurysm, Bicuspid aortic valve, Pec... |
OMIM:617168 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxi... |
ORPHA:2409 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hypothyroidism, Conductive hearing impairment, Sensorineural hearing impai... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hypothyroidism, Conductive hearing impairment, Sensorineural hearing impai... |
ORPHA:352665 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Porphyrinuria, Decreased circulating hepcidin conce... |
ORPHA:101330 |
Agel Amyloidosis |
|
Stage 5 chronic kidney disease, Proteinuria |
ORPHA:85448 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Syndactyly, Anisocytosis, Anemia ... |
OMIM:615631 |
Delpire-Mcneill Syndrome |
|
Hip dislocation, Ventricular septal defect, Bilateral sensorineural hearing impairment |
OMIM:619083 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Hemoglobinuria, Hyperbilirubinemia, Elevated circulating creatine kina... |
OMIM:611881 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Vesicoureteral reflux, Ventricular septal defect, Recurrent urinary tract infections, Hypospadias... |
OMIM:619103 |
Laubry-Pezzi Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ascending tubular aorta aneurysm, Ventricular sep... |
ORPHA:99094 |
Diamond-Blackfan Anemia 12 |
|
Triphalangeal thumb, Ventricular septal defect, Reticulocytopenia, Macrocytic anemia, Elevated re... |
OMIM:615550 |
Pearson Syndrome |
|
Hyperalaninemia, Glycosuria, Hypophosphatemia, Hypokalemia, Hypocalcemia, Lacticaciduria, Renal c... |
ORPHA:699 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Nephropathy, Nephrocalcinosis, Proteinuria, Splenomegaly |
ORPHA:342 |
Familial Dysautonomia |
|
Abnormality of the kidney, Glomerulopathy, Renal insufficiency, Hyponatremia |
ORPHA:1764 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:235200 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Encephalocele, Patellar hypoplasia, Dilation of Virchow-Robin spaces, P... |
OMIM:603671 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Hypokalemia, Hypocalc... |
ORPHA:358 |
Wagro Syndrome |
|
Nephroblastoma, Proteinuria |
OMIM:612469 |
Esophageal Atresia |
|
Bronchitis, Ventricular septal defect, Recurrent respiratory infections, Clinodactyly, Renal agen... |
ORPHA:1199 |
Noonan Syndrome 3 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Thickened helices, Mit... |
OMIM:609942 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Hip dysplasia, Long ear, Hypospadias, Cryptorchidism, Heterotaxy, Inte... |
OMIM:618846 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Sensorineural hearing impairment, Radial bowing, Amegakaryocytic thrombocytopenia, Clinodactyly o... |
OMIM:605432 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
Pachyonychia Congenita 2 |
|
Oral leukoplakia, Angular cheilitis, Natal tooth |
OMIM:167210 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalciuria, Hypercalcemia, Nephr... |
ORPHA:437 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated maternal serum alpha-fetoprotein, Stage 5 chronic kidney disease, Hyperph... |
OMIM:309000 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Gastroesophageal reflux, Renal dysplasia, Clinodactyly, Clinodactyly of the 5th finger, Severe in... |
ORPHA:96182 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short phalanx of finger, Ventricular hypertrophy, Shoulder dislocation, Camptodactyly of finger, ... |
OMIM:143095 |
Joubert Syndrome 1 |
|
Clinodactyly, Postaxial foot polydactyly, Renal cyst, Nephropathy, Occipital myelomeningocele, Po... |
OMIM:213300 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Cleft palate, Short philtrum, Natal tooth |
OMIM:617337 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Tapered finger, Short 5th finger, Urethral stricture, Posteriorly rotated ears, Ventricular septa... |
OMIM:619522 |
Branchio-Oculo-Facial Syndrome |
|
Conductive hearing impairment, Multicystic kidney dysplasia, Preaxial hand polydactyly, Renal age... |
ORPHA:1297 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormality of dental morphology, Tooth agenesis, Supernumerary tooth, Delayed eruption of teeth |
ORPHA:3353 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Clinodactyly, Camptodactyly, Atrial septal defect, Spina bifida occult... |
OMIM:617360 |
Postaxial Acrofacial Dysostosis |
|
Camptodactyly of finger, Conductive hearing impairment, Finger syndactyly, Microtia, Hypoplasia o... |
ORPHA:246 |
Pfeiffer Syndrome |
|
Short middle phalanx of toe, High palate, Finger syndactyly, Humeroradial synostosis, Elbow ankyl... |
OMIM:101600 |
Schwartz-Jampel Syndrome |
|
Metatarsus valgus, Wrist flexion contracture, Coxa valga, Elbow dislocation, Abnormality of the u... |
ORPHA:800 |
Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Absent palmar crease, Pulmonary hypoplasia, Intestinal hypoplasia, Cleft... |
ORPHA:994 |
Lateral Meningocele Syndrome |
|
Meningocele, Conductive hearing impairment, Sensorineural hearing impairment, Ventricular septal ... |
ORPHA:2789 |
Spondylocarpotarsal Synostosis Syndrome |
|
Sensorineural hearing impairment, Coxa vara, Capitate-hamate fusion, Short metacarpal, Clinodacty... |
OMIM:272460 |
Coffin-Siris Syndrome 12 |
|
Hip subluxation, Hypothyroidism, Noncommunicating hydrocephalus, Prominent antihelix, Pectus exca... |
OMIM:619325 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Abnormal mandible morphology, Prominence of the zygomatic bone, Long philtrum, Broad alveolar rid... |
ORPHA:2215 |
Dysosteosclerosis |
|
High palate, Natal tooth, Delayed eruption of teeth, Absent paranasal sinuses, Micrognathia, Olig... |
OMIM:224300 |
Lead Poisoning |
|
Tubulointerstitial nephritis, Increased LDL cholesterol concentration, Decreased HDL cholesterol ... |
ORPHA:330015 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Hip dysplasia, Oroticaciduria, Abnormality of the ureter, Recurrent respiratory in... |
ORPHA:30 |
Orofaciodigital Syndrome Type 5 |
|
Crossed fused renal ectopia, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial po... |
ORPHA:2919 |
Pyomyositis |
|
Renal insufficiency |
ORPHA:764 |
Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Hypothyroidism, Splenomegaly, Cholelithiasis, Ventricular septal defect... |
OMIM:618268 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormality of tibia morphology, Split hand, Abnormality of... |
ORPHA:2492 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Microphthalmia |
ORPHA:1942 |
Andersen-Tawil Syndrome |
|
High palate, Micrognathia, Oligodontia, Hypoplasia of the maxilla, Thin upper lip vermilion, Pers... |
ORPHA:37553 |
Codas Syndrome |
|
Short phalanx of finger, Atrioventricular canal defect, Genu valgum, Conductive hearing impairmen... |
OMIM:600373 |
Q Fever |
|
Hematuria |
ORPHA:781 |
Vascular Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Pneumothorax, Pectus excavatum, Aortic dissection, Talipes equi... |
ORPHA:286 |
Cole-Carpenter Syndrome |
|
Micrognathia, Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2050 |
King-Denborough Syndrome |
|
Low-set ears, Bilateral cryptorchidism, Ventricular septal defect, Cryptorchidism |
OMIM:619542 |
Costello Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Ulnar deviation of finger, Large earlobe, Hyper... |
ORPHA:3071 |
Postinfectious Vasculitis |
|
Glomerulonephritis, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis |
ORPHA:48435 |
Rift Valley Fever |
|
Hematuria |
ORPHA:319251 |
Kohlschutter-Tonz Syndrome-Like |
|
Enamel hypoplasia, Delayed eruption of teeth, Widely spaced teeth, Abnormality of dental morpholo... |
OMIM:619229 |
16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Hip dysplasia, Dilated cardiomyopathy, Optic nerve hypoplasia, Proxima... |
ORPHA:261250 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Se... |
OMIM:608670 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Coxa valga, Pectus excavatum, Scapular winging, Hearing impairment, Vesicoureter... |
OMIM:150230 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left sup... |
OMIM:618775 |
Radio-Tartaglia Syndrome |
|
Conductive hearing impairment, Tapered finger, Ventricular septal defect, Precocious puberty, Lar... |
OMIM:619312 |
Bardet-Biedl Syndrome 1 |
|
Hypogonadism, Foot polydactyly, Abnormality of the kidney, Decreased testicular size, Abnormality... |
OMIM:209900 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis |
OMIM:607598 |
Congenital Gerbode Defect |
|
Vascular dilatation, Bacterial endocarditis, Ventricular septal defect, Perimembranous ventricula... |
ORPHA:99095 |
Peters-Plus Syndrome |
|
Pectus excavatum, Microtia, second degree, Square pelvis bone, Short palm, Hearing impairment, Po... |
OMIM:261540 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Avian Influenza |
|
Acute kidney injury, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Elev... |
ORPHA:454836 |
Complete Atrioventricular Septal Defect |
|
Recurrent pneumonia, Displacement of the papillary muscles, Complete atrioventricular canal defec... |
ORPHA:1329 |
Pontocerebellar Hypoplasia, Type 17 |
|
Patent ductus arteriosus, Secundum atrial septal defect, Ventricular septal defect |
OMIM:619909 |
Joubert Syndrome 33 |
|
Syndactyly, Splenomegaly |
OMIM:617767 |
Short Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Hypodontia, Micrognathia, Downturned corners of m... |
OMIM:269880 |
Cerebellofaciodental Syndrome |
|
Genu valgum, Tapered finger, Ventricular septal defect, Slender long bone, Mitral valve prolapse,... |
OMIM:616202 |
Crane-Heise Syndrome |
|
Aplastic clavicle, Finger syndactyly, Toe syndactyly, Hypoplasia of penis, Short distal phalanx o... |
ORPHA:1512 |
Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Low-set ears, Microphthalmia, Microcytic anemia |
OMIM:612379 |
Coffin-Siris Syndrome 1 |
|
Coxa valga, Spina bifida occulta, Dislocated radial head, Hearing impairment, Aplasia/Hypoplasia ... |
OMIM:135900 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:1135 |
Isolated Split Hand-Split Foot Malformation |
|
Sensorineural hearing impairment, Finger syndactyly, Oligodactyly, Split hand, Absent hand, Aniridia |
ORPHA:2440 |
Ulbright-Hodes Syndrome |
|
Renal hypoplasia, Polycystic kidney dysplasia, Abnormal penis morphology |
ORPHA:3404 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
High palate, Delayed eruption of teeth, Short philtrum, Everted lower lip vermilion, Open mouth, ... |
OMIM:615866 |
Lacrimoauriculodentodigital Syndrome |
|
Absent thumb, Conductive hearing impairment, Toe syndactyly, Cupped ear, Vesicoureteral reflux, L... |
ORPHA:2363 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Pyloric stenosis |
OMIM:226700 |
Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Bifid uvula, Camptodactyly, Syndactyly, Split foot,... |
OMIM:603543 |
Trichothiodystrophy 3, Photosensitive |
|
Carious teeth, Eclabion, Natal tooth |
OMIM:616395 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency |
OMIM:203300 |
Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
Melas |
|
Proximal tubulopathy, Proteinuria, Nephropathy, Focal segmental glomerulosclerosis |
ORPHA:550 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Protruding ear |
OMIM:152950 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Micropenis, Hypercholesterolemia |
OMIM:619471 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal antihelix morphology, Macrotia, Finger syndactyly, Abnormality of the elbow, Synostosis ... |
ORPHA:1005 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc... |
OMIM:610188 |
Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
Elsahy-Waters Syndrome |
|
Dental malocclusion, Agenesis of incisor, Mandibular prognathia, High palate, Long philtrum, Dela... |
OMIM:211380 |
Camptobrachydactyly |
|
Urinary incontinence, Short toe, Congenital finger flexion contractures, Hand polydactyly, Syndac... |
OMIM:114150 |
Mpi-Cdg |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage |
ORPHA:79319 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Pulmonary hypoplasia, Dysphagia |
OMIM:616867 |
Monosomy 22 |
|
Finger syndactyly, Clinodactyly of the 5th finger, Clubbing, Hepatosplenomegaly, Hypochromic micr... |
ORPHA:96123 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Delayed eruption of teeth |
ORPHA:73272 |
Distal Monosomy 19P13.3 |
|
Umbilical hernia, Pulmonary valve atresia, Conductive hearing impairment, Sensorineural hearing i... |
ORPHA:96129 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Micrognathia, Natal tooth |
OMIM:617802 |
Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:277440 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... |
OMIM:151210 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
Neu-Laxova Syndrome 2 |
|
High palate, Finger syndactyly, Spina bifida, Toe syndactyly, Microcephaly, Cleft palate, Intraut... |
OMIM:616038 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency, Hepatomegaly |
OMIM:226980 |
Restrictive Dermopathy 1 |
|
Overtubulated long bones, Wide anterior fontanel, Short umbilical cord, Hydropic placenta, Submuc... |
OMIM:275210 |
Achondrogenesis Type 2 |
|
Hypoplastic ilia, Short long bone, Delayed proximal femoral epiphyseal ossification, Pulmonary hy... |
ORPHA:93296 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Growth arrest lines, Lymphopenia, Abnormal pelvic girdle bone morphology, Auto... |
OMIM:102700 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
Saethre-Chotzen Syndrome |
|
Abnormal antihelix morphology, Triphalangeal thumb, Conductive hearing impairment, Narrow interna... |
ORPHA:794 |
8Q22.1 Microdeletion Syndrome |
|
Abnormal antihelix morphology, Camptodactyly of finger, Finger syndactyly, Hypogonadism, Underfol... |
ORPHA:178303 |
Achondroplasia |
|
Genu varum, Short femoral neck, Radial bowing, Hydrocephalus, Ulnar bowing, Pulmonary hypoplasia,... |
OMIM:100800 |
Greenberg Dysplasia |
|
Short phalanx of finger, Tetraphocomelia, Epiphyseal stippling, Pulmonary hypoplasia, Hypoplasia ... |
OMIM:215140 |
Orofaciodigital Syndrome Type 2 |
|
Talon cusp, Bifid tongue, High palate, Natal tooth, Tongue nodules, Unilateral alveolar cleft of ... |
ORPHA:2751 |
Vesicoureteral Reflux 3 |
|
Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicoureteral reflux, G... |
OMIM:613674 |
Melnick-Needles Syndrome |
|
Micrognathia, Tooth malposition, Craniofacial hyperostosis, Delayed eruption of teeth |
ORPHA:2484 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
T lymphocytopenia, Bronchiectasis, Recurrent bronchopulmonary infections, Lymphopenia, Emphysema,... |
OMIM:242700 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Distal Monosomy 10Q |
|
Patent ductus arteriosus, Vesicoureteral reflux, Acute kidney injury, Horseshoe kidney, Enuresis,... |
ORPHA:96148 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Pulmonary hypoplasia, Interstitial emphysema, Inflammation of the large intestine... |
OMIM:619708 |
Frontometaphyseal Dysplasia 1 |
|
Dental malocclusion, High palate, Selective tooth agenesis, Delayed eruption of teeth, Antegonial... |
OMIM:305620 |
Barber-Say Syndrome |
|
Dental malocclusion, Mandibular prognathia, High palate, Wide mouth, Delayed eruption of teeth, W... |
OMIM:209885 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Holoprosencep... |
ORPHA:1587 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Abnormal pelvic girdle bone morphology, Anter... |
OMIM:600057 |
Ellis-Van Creveld Syndrome |
|
Cleft upper lip, Natal tooth, Delayed eruption of teeth, Hypodontia, Abnormality of the alveolar ... |
OMIM:225500 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hydrocephalus, Sensorineural hearing impairment, Microphthalmia |
OMIM:615249 |
Gapo Syndrome |
|
Mandibular prognathia, Long philtrum, Delayed eruption of teeth, Micrognathia, Everted lower lip ... |
ORPHA:2067 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrotia, Coxa valga, Sensorineural hearing impairment, Ventricular septal defect, Slender long b... |
OMIM:212066 |
Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease |
OMIM:208060 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Short philtrum, Cleft palate, Advanced eruption of teeth |
ORPHA:949 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:2140 |
Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Sensorineural hearing impairment, Renal cell carcinoma, Neoplasm of the pancrea... |
OMIM:193300 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Hip subluxation, Anterior pituitary hypoplasia, E... |
OMIM:613457 |
Renal Agenesis, Bilateral |
|
Renal agenesis, Pulmonary hypoplasia, Tracheoesophageal fistula, Abnormal intestine morphology, S... |
ORPHA:1848 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hearing impairment, Recurrent respiratory infections, Microphthalmia, Protruding ear |
ORPHA:1806 |
Rabson-Mendenhall Syndrome |
|
Polydactyly, Hypothyroidism, Macrotia, Precocious puberty, Ventricular septal defect, Increased s... |
ORPHA:769 |
1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Pulmonary hypoplasia, Holoprosencephaly, Cleft palate, Talipes equin... |
ORPHA:250999 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Elevated urinary catecholamines, Pancreatic endocrine tumor, Renal cell carcino... |
ORPHA:892 |
Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:103580 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... |
OMIM:602450 |
Scleroderma |
|
Gastroesophageal reflux, Gastrointestinal telangiectasia, Alopecia, Abnormal large intestine morp... |
ORPHA:801 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Pulmonary hypoplasia |
OMIM:255320 |
Tbck-Related Intellectual Disability Syndrome |
|
2-3 toe syndactyly, Hypothyroidism, Sensorineural hearing impairment, Ventricular septal defect, ... |
ORPHA:488632 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Abnormal left ventricular outflow tract morphology, ... |
ORPHA:402075 |
Genitopatellar Syndrome |
|
Short phalanx of finger, Hypothyroidism, Multicystic kidney dysplasia, Hip contracture, Ventricul... |
OMIM:606170 |
Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
Witteveen-Kolk Syndrome |
|
Toe syndactyly, Overlapping toe, Unilateral cryptorchidism, Radial deviation of finger, Contractu... |
OMIM:613406 |
Blepharo-Cheilo-Odontic Syndrome |
|
Anal atresia, Finger syndactyly, Bilateral cleft lip and palate |
ORPHA:1997 |
Cranioectodermal Dysplasia 4 |
|
Stage 5 chronic kidney disease |
OMIM:614378 |
Nance-Horan Syndrome |
|
Short phalanx of finger, Broad finger, Macrotia, Microphthalmia |
OMIM:302350 |
Acrofacial Dysostosis, Palagonia Type |
|
Short 4th metacarpal, Finger syndactyly, Small hand, Spina bifida occulta, Low-set ears, Posterio... |
ORPHA:1787 |
3M Syndrome |
|
Everted lower lip vermilion, Abnormal dental enamel morphology, Long philtrum, Delayed eruption o... |
ORPHA:2616 |
Renal Tubular Dysgenesis |
|
Anuria, Pulmonary hypoplasia, Microcephaly, Abnormality of the urinary system, Renotubular dysgen... |
OMIM:267430 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Hydrocephalus, Hand polydactyly, External ear malformation, Congenital hip dis... |
ORPHA:1647 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microtia, Hydrocephalus, Optic nerve hypoplasia, Adducted thumb, Microphthalmia, L... |
OMIM:614643 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Atr... |
ORPHA:457279 |
Hallermann-Streiff Syndrome |
|
Spina bifida, Slender long bone, Pectus excavatum, Recurrent pneumonia, Abnormality of the hand, ... |
OMIM:234100 |
Costello Syndrome |
|
Lymphangiectasis, Pneumothorax, Ventricular septal defect, Hyperextensibility of the finger joint... |
OMIM:218040 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Coxa valga, Hallux valgus, Advanced ossification of carpal bones, Large iliac wi... |
OMIM:271640 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Tapered finger, Supernumerary nipple, Large earlobe, Broad thumb, Microp... |
ORPHA:1236 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect, Protruding ear, Hip dysplasia |
OMIM:618798 |
Kabuki Syndrome 2 |
|
Dental malocclusion, High palate, Lower lip pit, Natal tooth, Hypodontia, Micrognathia, Cleft palate |
OMIM:300867 |
Orofaciodigital Syndrome Xiv |
|
Patent ductus arteriosus, Ventricular septal defect, Epispadias, Atrial septal defect, Broad hall... |
OMIM:615948 |
Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Semilobar holoprosencephaly, Alobar holoprosencephaly, Lobar holo... |
OMIM:615465 |
Prader-Willi Syndrome |
|
Genu valgum, Precocious puberty, Hyperinsulinemia, Small hand, Short foot, Recurrent respiratory ... |
OMIM:176270 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Ventricular septal defect, Microtia, Short femur, Cryptorchidism, Micropenis, Hydron... |
OMIM:617798 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Camptodactyly of finger, Microphallus, 4-5 finger syndactyly, Unilateral renal agenesis, Thin ear... |
ORPHA:468631 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly, Anteverted ears |
OMIM:618087 |
Okamoto Syndrome |
|
Urinary incontinence, Abnormally large globe, Macrotia, Polydactyly, Ventricular septal defect, A... |
ORPHA:2729 |
Warburg Micro Syndrome 4 |
|
Decreased testicular size, Micropenis, Microphthalmia, Cryptorchidism |
OMIM:615663 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Gingivitis, Abnormality of the dentition, Cleft palate, Delayed eruption of teeth |
ORPHA:2314 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract, Renal tubula... |
ORPHA:99885 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Elevated circulating C-reactive protein conce... |
OMIM:249100 |
Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis |
ORPHA:60025 |
Fetal Akinesia Deformation Sequence 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, Ulnar deviation of the hand ... |
OMIM:208150 |
Rothmund-Thomson Syndrome |
|
Selective tooth agenesis, Delayed eruption of teeth, Microdontia, Supernumerary tooth, Carious te... |
ORPHA:2909 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia, Posteriorly rotated ears |
OMIM:617306 |
Dubowitz Syndrome |
|
Hypoplasia of the iris, Clinodactyly of the 5th finger, Acute lymphoblastic leukemia, Syndactyly,... |
OMIM:223370 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Hypothyroidism, Premature thelarche, Tapered finger, Hallux valgus, Breast aplasia, ... |
ORPHA:268261 |
Monosomy 9P |
|
Abnormal antihelix morphology, Anotia, Microtia, Abnormality of the tarsal bones, Hypospadias, Ur... |
ORPHA:261112 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Abnormality of the hand, Fibular a... |
OMIM:246570 |
Ulnar-Mammary Syndrome |
|
Short 5th finger, Elbow flexion contracture, Postaxial hand polydactyly, Ventricular septal defec... |
OMIM:181450 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Patent foramen ovale, Ventricular septal defect, Decreased circulating renin level, Primary hyper... |
OMIM:615474 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Toe syndactyly, Cleft palate, Vesicoureteral reflux, Absence of Stensen duct, Se... |
OMIM:129900 |
Bartsocas-Papas Syndrome |
|
Absent thumb, Finger syndactyly, Renal hypoplasia/aplasia, Toe syndactyly, Microcephaly, Aplasia/... |
ORPHA:1234 |
Waldenström Macroglobulinemia |
|
Renal insufficiency, Splenomegaly, Hepatomegaly |
ORPHA:33226 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Absent radius,... |
OMIM:135750 |
Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Ventricular septal defect, Congenital posterior urethral valve, Hypospadia... |
OMIM:300000 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Microtia, Renal dysplasia, Hydrocephalus, Meningoencephalocele, Optic nerve hypoplasia, Buphthalm... |
OMIM:236670 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Bifid uvula, Pulmonary hypoplasia, Postaxial hand polydactyly, Cleft pal... |
ORPHA:2753 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Microcolon, Pyelonephritis, Pulmonary hypoplasia, Ileal... |
OMIM:619351 |
Cleidocranial Dysplasia 1 |
|
Enamel hypoplasia, Narrow palate, High palate, Hypoplastic frontal sinuses, Delayed eruption of p... |
OMIM:119600 |
Kbg Syndrome |
|
Macrotia, Protruding ear, Clinodactyly of the 5th finger, Epispadias, Syndactyly, Single transver... |
OMIM:148050 |
Chst3-Related Skeletal Dysplasia |
|
Long philtrum, Delayed eruption of teeth |
ORPHA:263463 |
Rothmund-Thomson Syndrome, Type 2 |
|
Forearm reduction defects, Short foot, Small hand, Hypogonadism, Annular pancreas, Underfolded he... |
OMIM:268400 |
Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, External ear malformation, Hearing impairment, Cryptorchidism |
ORPHA:1252 |
Cockayne Syndrome |
|
Urinary incontinence, Hyperuricemia, Nephrotic syndrome, Neurogenic bladder, Unilateral renal age... |
ORPHA:191 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Reversible renal failure, Oliguria, Hepato... |
ORPHA:90051 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Infection-Related Hemolytic Uremic Syndrome |
|
Nephrotic range proteinuria, Anuria, Acute kidney injury, Decreased urine output, Hyperkalemia, O... |
ORPHA:544482 |
Angioosteohypertrophic Syndrome |
|
Hematuria |
ORPHA:2346 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Abnormal zygomatic bone morphology... |
ORPHA:2769 |
Diphallia |
|
Duplicated colon, Renal duplication, Absent thumb, Abnormality of the gastrointestinal tract, Ren... |
ORPHA:227 |
Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Narrow mouth, Multiple impacted teeth, Cleft pa... |
OMIM:311300 |
Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Hip dysplasia, Clubbing of toes, Clinodactyly of the 5th finger, Abnormal dist... |
ORPHA:783 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia |
OMIM:614402 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Retrognathia, Dentinogenesis imperfecta, Periodontitis, Delayed eruption of permanent teeth, Prem... |
OMIM:619269 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, Hallux valgus, Microtia, Toe syndactyly, Partial duplication of the dist... |
OMIM:101400 |
Erdheim-Chester Disease |
|
Dysuria, Renal insufficiency, Hydronephrosis |
ORPHA:35687 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:264700 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Phocomelia, Split hand, Aplasia of the thymus |
ORPHA:3004 |
Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
High palate, Hallux valgus, Repeated pneumothoraces, Slender long bones with narrow diaphyses, Hy... |
ORPHA:536467 |
Gaucher Disease |
|
Proteinuria, Hematuria |
ORPHA:355 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Ventricular septal defect, Recurrent... |
ORPHA:33364 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypospadias, Hematuria, Micropenis |
OMIM:619475 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease |
ORPHA:25 |
Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Tapered finger, Ventricular septal defect, Small hand, Clinodactyly of the... |
OMIM:609460 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Macrotia, Clinodactyly of the 5th finger, Pectus excavatum, Syndactyly, Cryptorchidism, Hypoplast... |
OMIM:618505 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Zttk Syndrome |
|
Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Small hand, Unilateral l... |
OMIM:617140 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Pollakisuria, Microtia, Camptodactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Me... |
OMIM:227330 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Microcolon, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Abnormal circulating selenium concentration, IgA deposition in the glomerulus, Urinary bladder sp... |
ORPHA:79408 |
Sotos Syndrome |
|
2-3 toe syndactyly, Hypothyroidism, Conductive hearing impairment, Congenital posterior urethral ... |
ORPHA:821 |
Apert Syndrome |
|
Mandibular prognathia, Narrow palate, Delayed eruption of teeth, Bifid uvula, Hypoplasia of the m... |
ORPHA:87 |
Pallister-Killian Syndrome |
|
Short phalanx of finger, Renal dysplasia, Hip dislocation, Pulmonary hypoplasia, Supernumerary ni... |
OMIM:601803 |
Pfeiffer Syndrome |
|
Symphalangism affecting the phalanges of the hand, High palate, Finger syndactyly, Hip dysplasia,... |
ORPHA:710 |
Multiple Pterygium Syndrome, X-Linked |
|
Cleft palate, Short finger, Pulmonary hypoplasia, Intrauterine growth retardation |
OMIM:312150 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Stage 5 chronic kidney disease, Oroticaciduria, Hyperammonemia, Increased circulat... |
OMIM:222700 |
Myopathy With Extrapyramidal Signs |
|
Splenomegaly, Ventricular septal defect, Leukocytosis |
OMIM:615673 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Short thumb, Aplastic anemia, Ventricular septal defect |
OMIM:610832 |
Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Macroglossia, Low anterior hairline, Low posterior hairline |
OMIM:618440 |
Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
Rodrigues Blindness |
|
Microphthalmia, Protruding ear |
OMIM:268320 |
15Q14 Microdeletion Syndrome |
|
Low-set ears, Ventricular septal defect, Atrial septal defect |
ORPHA:261190 |
Agnathia-Otocephaly Complex |
|
Pulmonary hypoplasia, Holoprosencephaly, Microglossia, Cleft palate, Aglossia |
OMIM:202650 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Anemia, Thrombocytopenia, Unilateral microphthalmos |
OMIM:615085 |
Camptobrachydactyly |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Ulna... |
ORPHA:1319 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Abnormal hip bone morphology, Pulmonary hypoplasia, Slender long bone |
ORPHA:1486 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the kidney, Clinodact... |
ORPHA:1724 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Supernumerary nipple, Ventricular septal defect, Cryptorchidism |
OMIM:617635 |
Eisenmenger Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Bacterial endocarditis, Renal insufficie... |
ORPHA:97214 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Abnormal... |
ORPHA:2658 |
Shigellosis |
|
Hemolytic-uremic syndrome, Acute kidney injury, Abnormal blood ion concentration, Hyponatremia, U... |
ORPHA:810 |
Osteogenesis Imperfecta |
|
Noncommunicating hydrocephalus, Pulmonary hypoplasia, Dislocated radial head, Intestinal obstruct... |
ORPHA:666 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect, Optic disc hypoplasia, Accessory spleen, Simple ear, Low-set ears |
OMIM:619306 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Abnormal hand morphology, Finger syndactyly, Supernumerary nipple, Spina... |
ORPHA:464 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Dental malocclusion, Mandibular prognathia, Delayed eruption of teeth, Hypodontia, Hypoplasia of ... |
OMIM:101800 |
Achondrogenesis, Type Ia |
|
Bowing of the arm, Hypoplasia of the radius, Abnormal femoral metaphysis morphology, Pulmonary hy... |
OMIM:200600 |
Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... |
ORPHA:57777 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,... |
ORPHA:95455 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Left ventricular hypertrophy, Focal segmental glomerulosclerosis, Elevated hemoglobin A1c, Hepato... |
OMIM:619127 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Ventricular septal defect, Cryptorchidism |
OMIM:619908 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Low-set ears, Ventricular septal defect |
OMIM:618325 |
Cockayne Syndrome B |
|
Hypoplastic iliac wing, Splenomegaly, Sensorineural hearing impairment, Normal pressure hydroceph... |
OMIM:133540 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Retrognathia, Bifid tongue, Narrow palate, High palate, Delayed eruption of teeth, Short lingual ... |
OMIM:180700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Microcolon, Intestinal malrotation, Megacystis, Hydronephrosis |
OMIM:619431 |
Kleefstra Syndrome Due To A Point Mutation |
|
Thick lower lip vermilion, Natal tooth, Abnormality of the dentition |
ORPHA:261652 |
Mucopolysaccharidosis, Type Ii |
|
Thick lower lip vermilion, Macroglossia, Widely spaced teeth, Delayed eruption of teeth |
OMIM:309900 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Short phalanx of finger, Acute myelomonocytic leukemia, Secundum atrial septal defect, Metaphysea... |
ORPHA:99646 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Patent foramen ovale, Genu valgum, Ventricular septal defect, Renal hypoplasia/aplasia, Mitral va... |
ORPHA:363700 |
Serotonin Syndrome |
|
Acute kidney injury |
ORPHA:43116 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Multiple Pterygium Syndrome, Lethal Type |
|
Cleft palate, Short finger, Pulmonary hypoplasia, Intrauterine growth retardation |
OMIM:253290 |
Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Conductive hearing impairment, Hip dislocation, Metatarsus adductus, Short ha... |
OMIM:194190 |
Stevens-Johnson Syndrome |
|
Dysuria, Renal insufficiency, Abnormality of the urethra |
ORPHA:36426 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Low-set ears, Macrotia, Microphthalmia |
OMIM:615145 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
Neu-Laxova Syndrome |
|
Spina bifida, Bifid uvula, Submucous cleft hard palate, Pulmonary hypoplasia, Microcephaly, Cleft... |
ORPHA:2671 |
Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa va... |
ORPHA:3107 |
Yellow Fever |
|
Anuria, Pancreatic hyperplasia, Acute kidney injury, Hyperbilirubinemia, Elevated circulating cre... |
ORPHA:99829 |
Leigh Syndrome |
|
3-Methylglutaconic aciduria, Macrotia, Sensorineural hearing impairment, Renal tubular acidosis, ... |
ORPHA:506 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Palmoplantar keratoderma, Recurrent respiratory infections, Ventricular septal... |
OMIM:615508 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Intussusception, Hematochezia, Intestinal bleeding, Gastrointestinal hemorrh... |
ORPHA:79076 |
Toxic Epidermal Necrolysis |
|
Dysuria, Renal insufficiency, Abnormality of the urethra |
ORPHA:537 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Stage 5 chronic kidney disease, Hyperlipidemia |
OMIM:608612 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Microphthalmia, Thyroid C cell hyperplasia |
OMIM:300952 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Mitten deformity, Clinodactyly of the 5th finger, Syndactyly, Widely spaced toes, Tapered distal ... |
OMIM:609638 |
Lethal Congenital Contracture Syndrome 9 |
|
Ulnar deviation of the hand or of fingers of the hand, Short umbilical cord, Pulmonary hypoplasia... |
OMIM:616503 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Micrognathia, Supernumerary tooth, Narrow mouth, Malar flattening, Abnormality of th... |
ORPHA:2108 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Chylothorax, Talipes equinovarus, Arachnodactyly |
OMIM:619036 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Epiphyseal stippling, Pulmonary hypoplasia, Microcephaly, Short distal phalanx ... |
ORPHA:86822 |
Neuroocular Syndrome |
|
Patent foramen ovale, Tapered finger, Hyperextensibility of the finger joints, Tibial torsion, Cl... |
OMIM:619539 |
Crimean-Congo Hemorrhagic Fever |
|
Proteinuria, Hematuria |
ORPHA:99827 |
Orofaciodigital Syndrome Type 14 |
|
Patent ductus arteriosus, Deviation of the hallux, Ventricular septal defect, Bilateral cryptorch... |
ORPHA:434179 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
ORPHA:465508 |
Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Esophageal stricture, Short 4th metacarpal, Finger syndactyly, Short 5th... |
ORPHA:2908 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the... |
ORPHA:364577 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Narrow palate, High palate, Natal tooth, Bifid uvula, Narrow mouth, Malar flattening, Gingival ov... |
OMIM:123790 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Preaxial hand polydactyly, Bifid tongue, Short foot, Ectopic anus, Esophageal atresia, Urethrovag... |
ORPHA:93271 |
Frontonasal Dysplasia 2 |
|
Low-set ears, Bilateral cryptorchidism, Encephalocele, Microphthalmia |
OMIM:613451 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Membranoproliferative glomerulonephritis, Microscopic hematuria |
OMIM:619525 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Camptodactyly of finger, Narrow palate, Finger syndactyly, Synostosis of carpal bones, Abnormal h... |
ORPHA:1323 |
Rapp-Hodgkin Syndrome |
|
Velopharyngeal insufficiency, Bifid uvula, Syndactyly, 2-3 toe cutaneous syndactyly, Hypospadias,... |
OMIM:129400 |
Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Stage 1 chronic kidney disease, Stage 5 chronic kidney disease, Hep... |
OMIM:218330 |
Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Premature eruption of permanent teeth |
ORPHA:199276 |
C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Renal hypoplasia/aplasia, Hand polydactyly, Clinoda... |
ORPHA:1308 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Elbow flexion contracture, Flat capital femoral epiphysis, Pulmonary hypoplasia, C... |
ORPHA:536471 |
Thymic Aplasia |
|
Hypothyroidism, T lymphocytopenia, Recurrent urinary tract infections, Coombs-positive hemolytic ... |
ORPHA:83471 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease |
ORPHA:2752 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Jejunal atresia, Syndactyly, Hypospadias, Holoprosencephaly, Ileal atre... |
OMIM:618820 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Ventricular septal defect, Umbilical hernia, Large placenta |
ORPHA:254534 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Broad hallux, Syndactyly, Single transverse palmar crease,... |
OMIM:614800 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Cockayne Syndrome A |
|
Micropenis, Proteinuria, Hepatomegaly, Renal insufficiency, Splenomegaly |
OMIM:216400 |
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation, Cryptorchidism |
ORPHA:404451 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Finger syndactyly, Abnormal preputium morphology, Abnormality of the gas... |
ORPHA:2907 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Tented upper lip vermilion, Mandibular prognathia, Short philtrum, Delayed eruption of permanent ... |
ORPHA:521445 |
Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cutaneous syndactyly, Abnormal pinna morphology |
ORPHA:2890 |
Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the iris, Hypoplasia of the fovea, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Precocious puberty, Ventricular septal defect, Cerebral hemorrhage, Cli... |
OMIM:616682 |
Short Stature With Microcephaly And Distinctive Facies |
|
Anemia, Short digit, Anisopoikilocytosis, Syndactyly, Proximal placement of thumb, Brachydactyly,... |
OMIM:615789 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Patent foramen ovale, Precocious puberty, Aspira... |
ORPHA:438213 |
Rothmund-Thomson Syndrome Type 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Tooth agenesis, Carious teeth, Cleft palate,... |
ORPHA:221016 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Eruption failure, Odontoma, Supernumerary tooth |
OMIM:175100 |
Mogs-Cdg |
|
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:79330 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
Oculo-Palato-Cerebral Syndrome |
|
Macrotia, Small hand, Microphthalmia, Short foot, Thickened helices |
ORPHA:2714 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:289157 |
Trichothiodystrophy 1, Photosensitive |
|
Hypogonadism, Macrotia, Microphthalmia, Protruding ear |
OMIM:601675 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Micrognathia, Bifid uvula, Submucous cleft hard palate, Thin upper lip... |
OMIM:300990 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Duplicated collecti... |
OMIM:607721 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Retrognathia, Bifid tongue, Long philtrum, Wide mouth, Micrognathia, Dental crowding, Macroglossi... |
OMIM:268310 |
Fraser Syndrome 2 |
|
Renal hypoplasia, Cutaneous syndactyly, Renal agenesis, Aplasia of the bladder |
OMIM:617666 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Anal atresia, Urethral atresia, Pulmonary hypoplasia, Hydronephrosis |
OMIM:271520 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pyloric stenosis, Intrauterine growth retardation, Pulmonary hypoplasia, Overlapping toe, Contrac... |
ORPHA:83617 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
Barber-Say Syndrome |
|
Wide mouth, Delayed eruption of teeth |
ORPHA:1231 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Micrognathia, Abnormality of dental morphol... |
ORPHA:369950 |
Acrofrontofacionasal Dysostosis 1 |
|
Short metacarpal, Acetabular dysplasia, Pectus excavatum, Broad thumb, Microphthalmia, Mixed hear... |
OMIM:201180 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Craniotubular Dysplasia, Ikegawa Type |
|
Broad femoral neck, Ventricular septal defect, Short palm, Phthisis bulbi, 3-4 finger syndactyly,... |
OMIM:619727 |
Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect, Barrel-shaped chest, Microphthalmia, Phthisis bulbi, Metaphyseal widen... |
OMIM:259770 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency |
ORPHA:79430 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Hallux valgus, Pineal ... |
OMIM:300967 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Finger symphalangi... |
OMIM:612576 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Patent ductus arteriosus, Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Ventr... |
ORPHA:96191 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Jejunal atresia, Aplasia/Hypopl... |
ORPHA:989 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Microdontia, Tooth agenesis, Carious teeth, Abnormality of the dentiti... |
ORPHA:221008 |
Aymé-Gripp Syndrome |
|
Patent ductus arteriosus, Proteinuria |
ORPHA:1272 |
Unilateral Polymicrogyria |
|
Pulmonary arteriovenous malformation, Stroke, Abnormal heart morphology, Infantile sensorineural ... |
ORPHA:268943 |
Bloom Syndrome |
|
Bronchiectasis, Type II diabetes mellitus, Hand polydactyly, Clinodactyly of the 5th finger, Synd... |
OMIM:210900 |
Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Delayed eruption of teeth, Micrognathia, Thin upper lip vermilion, Cle... |
OMIM:247200 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
3-4 finger cutaneous syndactyly, Camptodactyly, Optic nerve hypoplasia, 2-3 toe cutaneous syndact... |
OMIM:620029 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Short finger, Pectus excavatum, Broad hallux, Microphthalmia, Arachnodactyly, Cubitus valgus, Hom... |
OMIM:601552 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Holoprosencephaly 7 |
|
Macrotia, Hydrocephalus, Semilobar holoprosencephaly, Panhypopituitarism, Lobar holoprosencephaly... |
OMIM:610828 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:608013 |
Marburg Hemorrhagic Fever |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperammonemia, Elevated circula... |
ORPHA:99826 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:308552 |
Familial Exudative Vitreoretinopathy |
|
Hearing impairment, Microphthalmia |
ORPHA:891 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Hydrocephalus, Microphthalmia |
OMIM:616538 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Widely spaced teeth, Delayed eruption of teeth, Microdontia, Alveolar ridge overgrowth, Gingival ... |
OMIM:301072 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux, Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Micrognathia, Gingival overgrowth, Delayed eruption of teeth |
OMIM:259600 |
Chronic Graft Versus Host Disease |
|
Phimosis, Urinary bladder inflammation, Hematuria |
ORPHA:99921 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Aminoaciduria, Cholesteatoma, Hyperinsulinemic hypoglycemia, Thrombo... |
OMIM:619991 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Anemia, Ventricular septal defect, Polysplenia, Multiple pulmonary cysts, Lymphadenopathy, Profou... |
OMIM:619418 |
Igg4-Related Submandibular Gland Disease |
|
Abnormality of the kidney, Renal insufficiency |
ORPHA:449432 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
Johanson-Blizzard Syndrome |
|
Hypothyroidism, Vascular dilatation, Sensorineural hearing impairment, Ventricular septal defect,... |
OMIM:243800 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Hip dislocation, Unilateral renal ... |
OMIM:308205 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Ventricular septal defect, Renal dysplasia, Short finger, Broad finger, Urete... |
ORPHA:1934 |
Fgfr2-Related Bent Bone Dysplasia |
|
Micrognathia, Gingival overgrowth, Natal tooth |
ORPHA:313855 |
Bosma Arhinia Microphthalmia Syndrome |
|
Conductive hearing impairment, Absent tragus, Hypospadias, Microphthalmia, Abnormal pinna morphol... |
OMIM:603457 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Decreased serum testosterone concentration, Optic nerve hypoplasia, Renal cyst, Buphthalmos, Hypo... |
ORPHA:495875 |
Stickler Syndrome |
|
Cleft upper lip, Long philtrum, Micrognathia, Advanced eruption of teeth, Macroglossia, Hypoplasi... |
ORPHA:828 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Hydrocephalus, Encephalocele, Microphthalmia |
OMIM:613150 |
Osteoglophonic Dysplasia |
|
Eruption failure, Mandibular prognathia, High palate, Long philtrum, Malar flattening |
OMIM:166250 |
Larsen Syndrome |
|
Accessory carpal bones, Conductive hearing impairment, Finger syndactyly, Broad thumb, Cryptorchi... |
ORPHA:503 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Anterior pituitary hypoplasia, Ventricular septal... |
ORPHA:466791 |
Primary Sclerosing Cholangitis |
|
Hepatosplenomegaly, Hepatomegaly, Renal insufficiency, Splenomegaly, Hypoalbuminemia |
ORPHA:171 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
Autosomal Dominant Keratitis |
|
Macular hypoplasia, Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, A... |
ORPHA:2334 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Genu varum, Finger syndactyly, Abnormal mitral valve morphology, Pectus excavatum, Abnormality of... |
ORPHA:1969 |
Dubowitz Syndrome |
|
High palate, Wide mouth, Delayed eruption of teeth, Micrognathia, Submucous cleft hard palate, Ab... |
ORPHA:235 |
Autoimmune Lymphoproliferative Syndrome |
|
Glomerulonephritis, Renal insufficiency, Splenomegaly, Hepatomegaly |
ORPHA:3261 |
Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
Scorpion Envenomation |
|
Ketonuria, Acute kidney injury, Glycosuria, Hypokalemia, Increased circulating NT-proBNP concentr... |
ORPHA:466677 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Arterioven... |
OMIM:610655 |
Sclerosteosis 1 |
|
2-3 finger syndactyly, Abnormal pelvic girdle bone morphology, Syndactyly, Deviation of finger, H... |
OMIM:269500 |
Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retrognathia, Tooth malposition, Prominence of the zygomatic bone, High palate, Thick lower lip v... |
ORPHA:2785 |
Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Low-set ears, Hand clenching, Ventricular septal defect, Talipes equinovarus |
OMIM:614653 |
Juvenile Polyposis Syndrome |
|
Hamartomatous stomach polyps, Stomach cancer, Juvenile colonic polyposis, Neoplasm of the gastroi... |
ORPHA:2929 |
Lethal Acantholytic Erosive Disorder |
|
Cleft palate, Natal tooth |
ORPHA:158687 |
Fucosidosis |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:230000 |
Holoprosencephaly 1 |
|
Diabetes insipidus, Alobar holoprosencephaly, Micropenis, Microphthalmia, Single ventricle, Ethmo... |
OMIM:236100 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
High palate, Pulmonary hypoplasia, Dysphagia |
OMIM:616866 |
Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:94089 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Retrognathia, High palate, Deep philtrum, Delayed eruption of teeth, Open mouth |
ORPHA:1675 |
Incontinentia Pigmenti |
|
Conical tooth, Hypodontia, Oligodontia, Delayed eruption of teeth |
OMIM:308300 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Micrognathia, Advanced eruption of teeth |
ORPHA:280365 |
Oculoauricular Syndrome |
|
Macular hypoplasia, Spina bifida occulta, Microphthalmia, Low-set ears, Microphakia, Phthisis bul... |
OMIM:612109 |
Blomstrand Lethal Chondrodysplasia |
|
Long philtrum, Natal tooth, Micrognathia, Protruding tongue, Malar flattening |
ORPHA:50945 |
Aicardi Syndrome |
|
Precocious puberty, Spina bifida, Recurrent pneumonia, Microphthalmia, Proximal placement of thumb |
OMIM:304050 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Gastrointe... |
OMIM:187300 |
Coccidioidomycosis |
|
Abnormality of the kidney, Renal insufficiency, Abnormality of the bladder |
ORPHA:228123 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Aicardi Syndrome |
|
Precocious puberty, Small hand, Hip dysplasia, Delayed puberty, Microphthalmia, Protruding ear |
ORPHA:50 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Multicystic kidney dysplasia, Micropenis, Hyd... |
OMIM:615287 |
Pitt-Hopkins Syndrome |
|
Tooth malposition, Wide mouth, Short philtrum, Failure of eruption of permanent teeth, Abnormal p... |
ORPHA:2896 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Cupped ear, Microphthalmia |
OMIM:110100 |
Isolated Anencephaly |
|
Maternal diabetes, Thymus hyperplasia, Adrenal hypoplasia |
ORPHA:563609 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Microphthalmia, Aniridia, Congenital aphakia |
OMIM:610256 |
Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Glomerulonephritis, Renal insufficiency, Abnormality of the kidney |
ORPHA:289390 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Single transverse palmar crease, Small hand, Ventricular septal defect, Ventricular septal hypert... |
OMIM:614947 |
Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
Gardner Syndrome |
|
Multiple unerupted teeth, Odontoma, Supernumerary tooth, Abnormality of the dentition |
ORPHA:79665 |
Limb-Mammary Syndrome |
|
Aplasia of the ovary, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th fi... |
ORPHA:69085 |
Norrie Disease |
|
Macrotia, Sensorineural hearing impairment, Hypoplasia of the iris, Venous insufficiency, Abnorma... |
ORPHA:649 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Delayed eruption of teeth, Micrognathia, Cleft palate, Tooth malposition |
OMIM:309350 |
Xeroderma Pigmentosum, Complementation Group B |
|
Sensorineural hearing impairment, Microphthalmia, Hypogonadism |
OMIM:610651 |
Sarcoidosis |
|
Tubulointerstitial nephritis, Hypercalcemia, Hepatomegaly, Nephrocalcinosis, Renal insufficiency,... |
ORPHA:797 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Splenomegaly |
ORPHA:117 |
Craniosynostosis And Dental Anomalies |
|
Dental malocclusion, Mandibular prognathia, Narrow palate, High palate, Delayed eruption of teeth... |
OMIM:614188 |
Mucopolysaccharidosis, Type Vi |
|
Carious teeth, Macroglossia, Delayed eruption of teeth |
OMIM:253200 |
Ramon Syndrome |
|
Gingival fibromatosis, Narrow palate, Delayed eruption of teeth |
OMIM:266270 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Gingival overgrowth, Delayed eruption of teeth |
ORPHA:508542 |
Zygomycosis |
|
Renal insufficiency, Nephritis |
ORPHA:73263 |
Metachromatic Leukodystrophy |
|
Abnormal duodenum morphology, Intussusception, Abnormal stomach morphology, Neoplasm of the gallb... |
ORPHA:512 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Glycogen Storage Disease Ii |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Holoprosencephaly 2 |
|
Diabetes insipidus, Semilobar holoprosencephaly, Alobar holoprosencephaly, Holoprosencephaly, Mic... |
OMIM:157170 |
Familial Adenomatous Polyposis |
|
Eruption failure, Odontoma, Supernumerary tooth, Abnormal cementum morphology, Abnormality of the... |
ORPHA:733 |
Acute Liver Failure |
|
Acute kidney injury, Hepatic necrosis, Hepatocellular necrosis, Hyperammonemia, Hepatic periporta... |
ORPHA:90062 |
Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Microtia, Abnormal parotid gland morphology, Bilateral microphthal... |
OMIM:154500 |
Adnp Syndrome |
|
Thick lower lip vermilion, Thin upper lip vermilion, Smooth philtrum, Advanced eruption of teeth |
ORPHA:404448 |
Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Radial deviation of the 3rd finger, Broad hallux, Absent proximal phalanx ... |
OMIM:149730 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Gastrointestinal telangiectasia, Hepatic arteriovenous malformation, Anemia, Ischemic stroke, Cer... |
OMIM:600376 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79444 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... |
ORPHA:581 |
Hutchinson-Gilford Progeria Syndrome |
|
Retrognathia, High palate, Delayed eruption of teeth, Short lingual frenulum, Hypodontia, Microgn... |
ORPHA:740 |
Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Sensorineural hearing impairment, Microphthalmia |
OMIM:310600 |
Shwachman-Diamond Syndrome |
|
Carious teeth, Oral ulcer, Sinusitis, Delayed eruption of teeth |
ORPHA:811 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Carious teeth, Persistence of primary teeth, Calvarial osteosclerosis |
ORPHA:93325 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Hy... |
OMIM:127000 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Delayed eruption of primary teeth, Widely spaced teeth |
OMIM:617799 |
Xeroderma Pigmentosum, Complementation Group D |
|
Sensorineural hearing impairment, Microphthalmia |
OMIM:278730 |
Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
Scalp-Ear-Nipple Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2036 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arteriovenous malformation, Type I diabetes mellitus, Pleural effusion, Polyuria, Tinni... |
OMIM:606721 |
Leptospirosis |
|
Acute kidney injury, Hyperproteinemia, Cellular urinary casts, Hepatomegaly |
ORPHA:509 |
Pmm2-Cdg |
|
Hyperinsulinemia, Macrotia, Aspiration pneumonia, Elevated circulating thyroid-stimulating hormon... |
ORPHA:79318 |
Listeriosis |
|
Acute kidney injury, Pyelonephritis |
ORPHA:533 |
Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79443 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly, Short f... |
ORPHA:1974 |
Tukel Syndrome |
|
Syndactyly, Carpal bone aplasia, Postaxial oligodactyly, Carpal synostosis |
OMIM:609428 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Cerebral hemorrhage, Dilation of Virchow-Robin spaces, Hemolytic anemia, Hypopla... |
OMIM:175780 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:618278 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Uplifted earlobe, Renal cortical cysts, Pectus excavatum |
OMIM:618548 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Tooth abscess, Delayed eruption of teeth |
ORPHA:289176 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
Wrinkly Skin Syndrome |
|
High palate, Long philtrum, Delayed eruption of teeth, Microdontia, Microretrognathia, Smooth phi... |
OMIM:278250 |
Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Absent nipple, Split foot, Hypoplastic nipples, Breast hypoplasia |
ORPHA:978 |
Persistent Hyperplastic Primary Vitreous |
|
Macular hypoplasia, Buphthalmos, Microphthalmia, Phthisis bulbi |
ORPHA:91495 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Split hand, Finger syndactyly, Cryptorchidism |
ORPHA:1300 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:365 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Abetalipoproteinemia |
|
Cardiomegaly, Hepatomegaly |
ORPHA:14 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
Camurati-Engelmann Disease |
|
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth |
ORPHA:1328 |
Isolated Arrhinia |
|
Microphthalmia, Microtia |
ORPHA:1134 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
Wrinkly Skin Syndrome |
|
High palate, Long philtrum, Delayed eruption of teeth, Smooth philtrum, Small, conical teeth, Car... |
ORPHA:2834 |
Linear Nevus Sebaceus Syndrome |
|
Microphthalmia, Adenoma sebaceum |
ORPHA:2612 |
African Trypanosomiasis |
|
Urinary incontinence, Hepatosplenomegaly, Hepatomegaly, Renal insufficiency, Splenomegaly |
ORPHA:3385 |
Singleton-Merten Syndrome 1 |
|
Eruption failure, Hypoplasia of the maxilla, Thin upper lip vermilion, Carious teeth, Smooth phil... |
OMIM:182250 |
Sponastrime Dysplasia |
|
Obtuse angle of mandible, Mandibular prognathia, Hypoplasia of the dental root, Microdontia, Hypo... |
ORPHA:93357 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatosplenomegaly |
ORPHA:51 |
Dpagt1-Cdg |
|
Clinodactyly, Camptodactyly, Pulmonary hypoplasia, Microcephaly, Arachnodactyly |
ORPHA:86309 |
Wiedemann-Rautenstrauch Syndrome |
|
Retrognathia, Natal tooth, Hypodontia, Short philtrum, Submucous cleft soft palate, Thin upper li... |
ORPHA:3455 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Hydrocephalus, Hypoplasia of the retina, Microphthalmia |
OMIM:253280 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
High palate, Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musc... |
ORPHA:1521 |
Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
Blau Syndrome |
|
Stage 5 chronic kidney disease, Clear cell renal cell carcinoma, Nephropathy, Splenomegaly |
ORPHA:90340 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:256040 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease |
ORPHA:642 |
Alström Syndrome |
|
Urinary incontinence, Splenomegaly, Functional abnormality of the bladder, Urinary retention, Rec... |
ORPHA:64 |
Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |