| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Fused Mandibular Incisors |
|
Abnormality of the dentition, Advanced eruption of teeth |
ORPHA:2287 |
| Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria |
OMIM:620320 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
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 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:613944 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
| Uridine-Cytidineuria |
|
Elevated urinary uridine level, Elevated urinary cytidine |
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 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency |
OMIM:607832 |
| Nail-Patella-Like Renal Disease |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... |
OMIM:614196 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:613211 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... |
OMIM:613237 |
| Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
| Focal Segmental Glomerulosclerosis 6 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr... |
OMIM:614131 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria |
OMIM:161900 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Hydroxyprolinemia |
|
Microscopic hematuria |
OMIM:237000 |
| C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
| Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
| Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel... |
OMIM:609814 |
| Gigantiform Cementoma, Familial |
|
Tooth malposition, Cementoma, Multiple impacted teeth |
OMIM:137575 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria |
OMIM:161950 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Amelogenesis Imperfecta, Type Iiia |
|
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion |
OMIM:130900 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
| Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar |
OMIM:114700 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
| Medullary Sponge Kidney |
|
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth |
ORPHA:2027 |
| Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Right aortic arch, Ventricular septal defect, Renal cyst, Double outlet right ventr... |
OMIM:231060 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
| Steatocystoma Multiplex |
|
Natal tooth |
OMIM:184500 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia |
OMIM:614832 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... |
OMIM:616749 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
| Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,... |
ORPHA:54370 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... |
OMIM:615008 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... |
OMIM:174000 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... |
OMIM:600995 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... |
OMIM:617609 |
| Amelogenesis Imperfecta, Type Ik |
|
Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:620104 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... |
OMIM:615573 |
| Amelogenesis Imperfecta, Type Ia |
|
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:104530 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus... |
OMIM:125500 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro... |
ORPHA:2972 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Short thumb, Abnormal heart morphology, Limited elbow extension and supination, Cryptorchidism, V... |
ORPHA:401935 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
| Scimitar Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... |
ORPHA:185 |
| Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Patent ductus arteriosus, ... |
OMIM:615382 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Fibronectin Glomerulopathy |
|
Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr... |
ORPHA:84090 |
| Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... |
ORPHA:3384 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Abnormal hip bone morphology, Vesicoureteral reflux, Abnormal aortic morphol... |
ORPHA:1166 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors |
OMIM:183300 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Microphthalmia, Syndromic 9 |
|
Low-set ears, Anophthalmia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Sing... |
OMIM:601186 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:266900 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Renal agenesis, Abnormal heart morphology, Abnormal hip bone morphology, Polydactyly, Upper limb ... |
ORPHA:294975 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia |
OMIM:620085 |
| Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... |
OMIM:613496 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia |
OMIM:609886 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... |
OMIM:613751 |
| Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Hearing impairment, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Ab... |
ORPHA:1926 |
| Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
| Dental Ankylosis |
|
Abnormal dental enamel morphology, Mandibular prognathia, Tooth agenesis |
ORPHA:1077 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Interrupted aortic arch, Low-set ears, Tetralogy of Fallot, Overlapping toe, Right aortic arch, R... |
OMIM:617478 |
| 22Q11.2 Duplication Syndrome |
|
Interrupted aortic arch, Hypoplastic left heart, Hearing impairment, Aplasia/Hypoplasia of the th... |
ORPHA:1727 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ... |
ORPHA:1354 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... |
OMIM:166750 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... |
OMIM:613854 |
| Tooth Agenesis, Selective, 9 |
|
Taurodontia, Selective tooth agenesis, Microdontia |
OMIM:617275 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi... |
ORPHA:860 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:105200 |
| Conotruncal Heart Malformations |
|
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... |
OMIM:217095 |
| Xanthinuria, Type Ii |
|
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... |
OMIM:603592 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... |
OMIM:618061 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Renal agenesis, Abnormal lung lobation, Abnormal aortic morpholog... |
ORPHA:2516 |
| Lactose Intolerance, Adult Type |
|
Decreased small intestinal mucosa lactase level |
OMIM:223100 |
| Ritscher-Schinzel Syndrome 2 |
|
Short distal phalanx of finger, Pulmonary artery hypoplasia, Prominent fingertip pads, Broad hall... |
OMIM:300963 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... |
ORPHA:567544 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Maternal diabetes, Abnormal tricuspid valve morphology, Patent ductus a... |
ORPHA:1208 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic s... |
OMIM:608709 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:610725 |
| Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... |
OMIM:614723 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis |
OMIM:611498 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... |
OMIM:612925 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Gombo Syndrome |
|
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Delayed puberty, Brachydacty... |
OMIM:233270 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno... |
ORPHA:477781 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... |
ORPHA:1209 |
| Dent Disease |
|
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... |
ORPHA:1652 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... |
OMIM:620294 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Phaver Syndrome |
|
Low-set ears, Aplasia/Hypoplasia of the earlobes, Ulnar deviation of finger, Broad thumb, Conduct... |
ORPHA:2876 |
| Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... |
OMIM:617805 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Bilateral cryptorchidism, An... |
ORPHA:2326 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... |
OMIM:220150 |
| Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... |
OMIM:614377 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis, Hydranencephaly, Short distal phalanx of finger, Ventricular septal de... |
OMIM:601355 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
| Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612926 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Ciliary Dyskinesia, Primary, 40 |
|
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... |
OMIM:618300 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612924 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Ventricular septal defect, Postaxial polydactyly, Atrial septal defect, H... |
OMIM:603387 |
| Cardiac-Urogenital Syndrome |
|
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... |
OMIM:618280 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... |
OMIM:613095 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... |
OMIM:618780 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... |
OMIM:614779 |
| Cleft Palate, Isolated |
|
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
| Galloway-Mowat Syndrome 8 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr... |
OMIM:618349 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
| Meckel Syndrome, Type 8 |
|
Low-set ears, Occipital encephalocele, Hyperechogenic kidneys, Anophthalmia, Encephalocele, Polyd... |
OMIM:613885 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... |
OMIM:263200 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Hand clenching, Low-set ears, Camptodactyly of finger, Ventricular septa... |
OMIM:616920 |
| 1Q21.1 Microdeletion Syndrome |
|
Interrupted aortic arch, Toe syndactyly, Broad thumb, Clinodactyly of the 5th finger, Vesicourete... |
ORPHA:250989 |
| Adams-Oliver Syndrome 6 |
|
Renal hypoplasia, Foot oligodactyly, Splenomegaly, Ventricular septal defect, Truncus arteriosus,... |
OMIM:616589 |
| Alport Syndrome |
|
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... |
ORPHA:63 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... |
OMIM:619702 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn... |
OMIM:603278 |
| Acrocardiofacial Syndrome |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Tetralogy of Fallot, Mi... |
ORPHA:2008 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology |
OMIM:123550 |
| Seckel Syndrome 9 |
|
Pulmonary artery hypoplasia, Recurrent urinary tract infections, Ventricular septal defect, Protr... |
OMIM:616777 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Low-set ears, Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, At... |
OMIM:618316 |
| Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... |
OMIM:256370 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Howell-Jolly bodies, Left superior vena cava draining directly to the l... |
OMIM:613759 |
| Feingold Syndrome Type 1 |
|
Toe syndactyly, Multiple muscular ventricular septal defects, Sensorineural hearing impairment, A... |
ORPHA:391641 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Pagod Syndrome |
|
Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Abnormality of... |
ORPHA:991 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortopulmonary collateral arteries, Low-set ears, Pulmonary artery hypoplasia, Optic nerve hypopl... |
OMIM:620025 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... |
OMIM:618845 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hearing impairment, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism, Dextrocard... |
OMIM:617577 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule... |
ORPHA:839 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Low-set ears, Small hand, Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Elev... |
OMIM:300845 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... |
OMIM:617205 |
| Hadziselimovic Syndrome |
|
Low-set ears, Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612946 |
| Stankiewicz-Isidor Syndrome |
|
Low-set ears, Absent thumb, Short thumb, Hearing impairment, Cryptorchidism, Truncus arteriosus, ... |
OMIM:617516 |
| Double Outlet Right Ventricle |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Heterotaxy, Truncu... |
ORPHA:3426 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Podocyte foot process effacement |
OMIM:617006 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... |
OMIM:619902 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A... |
ORPHA:1686 |
| Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,... |
OMIM:162000 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
| Verheij Syndrome |
|
Short 5th finger, Renal hypoplasia, Clinodactyly, Renal agenesis, Branchial cyst, Ventricular sep... |
OMIM:615583 |
| Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Aplasia/Hypoplasia of the iris, Abnormality of the pulmonary artery, Ve... |
ORPHA:290 |
| Trisomy 13 |
|
Low-set ears, Abnormal pelvic girdle bone morphology, Abnormal helix morphology, Ectrodactyly, Ab... |
ORPHA:3378 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Elevated circulating creatinine concentr... |
ORPHA:85450 |
| Ciliary Dyskinesia, Primary, 39 |
|
Recurrent otitis media, Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory ... |
OMIM:618254 |
| Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... |
ORPHA:329918 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal cementum morphology, Periapical bone loss, Mandibular osteomyelitis, Dental malocclusion... |
ORPHA:83451 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:619468 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... |
OMIM:203780 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency |
ORPHA:1909 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Hepatomegaly, Polycystic kidney d... |
OMIM:614859 |
| Mosaic Trisomy 1 |
|
Low-set ears, Hand clenching, Toe syndactyly, Broad 2nd toe, Ventricular septal defect, Arachnoda... |
ORPHA:1692 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level |
ORPHA:103907 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney... |
OMIM:145001 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Abnormal lung lobation, Hypertrophic cardiomyopathy, Femoral bowing, Situs... |
OMIM:615415 |
| Recombinant Chromosome 8 Syndrome |
|
Low-set ears, Joint contracture of the hand, Hearing impairment, Tetralogy of Fallot, Cryptorchid... |
OMIM:179613 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne... |
OMIM:615244 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... |
OMIM:615297 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c... |
OMIM:605376 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Finger syndactyly, Micromelia, Tetralogy of Fallot, Low-set, posteriorly rotat... |
ORPHA:1908 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
| Small Cell Carcinoma Of The Bladder |
|
Hematuria, Dysuria, Recurrent urinary tract infections |
ORPHA:284400 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia |
OMIM:615993 |
| Meacham Syndrome |
|
Hypoplastic left heart, Accessory spleen, Pulmonary hypoplasia, Tetralogy of Fallot, Horseshoe ki... |
OMIM:608978 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... |
ORPHA:411536 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Natal tooth, Abnormal mandible morphology |
OMIM:217150 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Abnormal hand morphology, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic v... |
ORPHA:228190 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... |
ORPHA:228302 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency |
ORPHA:510 |
| Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... |
OMIM:618594 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormal thumb morphology, Radioulnar synostosis, Aplasia/Hypoplasia o... |
ORPHA:3266 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... |
OMIM:208530 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts |
OMIM:173900 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis |
OMIM:613779 |
| Microphthalmia With Limb Anomalies |
|
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Inte... |
OMIM:206920 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Anophthalmia, Cryptorchidism, Ventricular septal defect, Microphthalmia,... |
OMIM:615524 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Low-set ears, Asplenia, Unbalanced atrioventricular canal defect, Toe syndactyly, Dextrotransposi... |
OMIM:619657 |
| Medullary cystic kidney disease 2 |
|
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Re... |
OMIM:603860 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Small hand, Absent gallbladder, Cryptorchidism, Barrel-shaped chest, Ven... |
OMIM:300712 |
| Velocardiofacial Syndrome |
|
Interrupted aortic arch, Right aortic arch with mirror image branching, Umbilical hernia, Tetralo... |
OMIM:192430 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
| Ritscher-Schinzel Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Low-set ears, Tetralogy of Fallot, Decreased respo... |
OMIM:220210 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... |
ORPHA:99050 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Ventricular septal defect, Overriding aorta, Atrial septal defect, Hydrocele testis, Patent ductu... |
OMIM:601927 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias,... |
ORPHA:163979 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Elbow dislocation, Abnormality of the spleen, Anophthalmia, Renal h... |
ORPHA:2538 |
| Acquired Partial Lipodystrophy |
|
Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:79087 |
| Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Low-set ears, Ventricular septal defect, Bilateral trilobed lung, Left superior vena cava drainin... |
OMIM:306955 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... |
OMIM:617056 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia, Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
| Mesangial sclerosis, diffuse renal, with ocular abnormalities |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency |
OMIM:249660 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Coach Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... |
OMIM:619113 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... |
OMIM:143400 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Clubbing of toes, Macrotia, Tetralogy of Fallot, Recurrent otitis media, Cryptorchidism, Single t... |
ORPHA:3304 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Short toe, Short finger, Short 5th metacarpal, Pseudocoarctation of the aorta, Bicuspid aortic va... |
OMIM:604381 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... |
ORPHA:157 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Denys-Drash Syndrome |
|
Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma |
ORPHA:220 |
| Nephrosialidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency |
OMIM:256150 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Enlarged kidney |
OMIM:615285 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad thumb, Hearing impairment, Overlapping toe, Ventricular septal defect, Bicuspid aortic valv... |
ORPHA:508498 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Hepatic cysts |
OMIM:600666 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot... |
OMIM:613845 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephropathy, Hematuria, Nephrolithiasis |
ORPHA:2196 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, L... |
OMIM:609029 |
| Floating-Harbor Syndrome |
|
Low-set ears, Broad thumb, Recurrent otitis media, Cryptorchidism, Atrial septal defect, Broad fi... |
OMIM:136140 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria |
OMIM:610205 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas... |
ORPHA:228308 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Bilateral single ... |
ORPHA:3033 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat... |
ORPHA:650 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... |
ORPHA:567548 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinuria, Hepatomeg... |
OMIM:620010 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal cyst, Renal insufficiency |
OMIM:611773 |
| Skraban-Deardorff Syndrome |
|
Recurrent otitis media, Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Ciliary Dyskinesia, Primary, 53 |
|
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Situs inversus totalis, Right aortic ... |
OMIM:620642 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Cryptorchidism... |
OMIM:301056 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... |
OMIM:602522 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Abnormal dental enamel morphology, Supernumerary tooth, Enamel hypoplasia |
ORPHA:3196 |
| Primary Ciliary Dyskinesia |
|
Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Clu... |
ORPHA:244 |
| Dentin Dysplasia |
|
Abnormal dental enamel morphology, Abnormal dental morphology |
ORPHA:1653 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph... |
OMIM:104200 |
| Anti-Glomerular Basement Membrane Disease |
|
Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency |
ORPHA:375 |
| Floating-Harbor Syndrome |
|
Low-set ears, Dilatation of the renal pelvis, Clinodactyly, Cryptorchidism, Atrial septal defect,... |
ORPHA:2044 |
| Dextrocardia |
|
Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung ... |
ORPHA:1666 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... |
ORPHA:2025 |
| Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Villous atrophy, Woolly hair, Uncombable hair, Brittle hair, Colitis, Spars... |
OMIM:614602 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Cardiomyopathy, Dilated, 1S |
|
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... |
OMIM:613426 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency |
ORPHA:2668 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial... |
ORPHA:216694 |
| Trisomy 1Q |
|
Low-set ears, Multicystic kidney dysplasia, Toe syndactyly, Preaxial hand polydactyly, Camptodact... |
ORPHA:261344 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Low-set ears, Dilatation of the renal pelvis, Dilatation of the bladder, Ventricular septal defec... |
OMIM:265380 |
| Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Proteinuria, Acute kidney injury, Renal insufficiency |
ORPHA:54057 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Sensorineural hearing impairment, Peripheral pulmonary artery stenosis, Vent... |
OMIM:617992 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat... |
OMIM:620235 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria,... |
OMIM:256300 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... |
ORPHA:79233 |
| Synpolydactyly 1 |
|
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... |
OMIM:186000 |
| Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k... |
ORPHA:656 |
| You-Hoover-Fong Syndrome |
|
Clinodactyly, Hearing impairment, Coarctation of aorta, Brachydactyly, Pectus excavatum, Double a... |
OMIM:616954 |
| Pseudotrisomy 13 Syndrome |
|
Low-set ears, Renal hypoplasia, Postaxial foot polydactyly, Renal agenesis, Complete atrioventric... |
OMIM:264480 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos... |
OMIM:616730 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Acitretin/Etretinate Embryopathy |
|
Cupped ear, Abnormality of the calcaneus, Atrioventricular canal defect, Conotruncal defect, Apla... |
ORPHA:40366 |
| Cleft Lip/Palate |
|
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg... |
ORPHA:199306 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Low-set ears, Hypoplastic helices, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, ... |
OMIM:600460 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee... |
ORPHA:2228 |
| Hereditary Xanthinuria |
|
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... |
ORPHA:3467 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... |
ORPHA:84085 |
| Czeizel-Losonci Syndrome |
|
2-3 finger syndactyly, Dextrocardia, Ureteral agenesis, Low-set, posteriorly rotated ears, Myelom... |
ORPHA:2437 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... |
OMIM:615605 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuri... |
OMIM:600001 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... |
OMIM:245150 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:136680 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis |
OMIM:300323 |
| Urofacial Syndrome 2 |
|
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
| Fibular Hemimelia |
|
Toe syndactyly, Short tibia, Finger syndactyly, Fibular aplasia, Genu valgum, Anophthalmia, Talip... |
ORPHA:93323 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication |
ORPHA:147 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Arteriovenous malformation, Finger syndactyly, Tetralogy of Fallo... |
ORPHA:974 |
| Primary Pulmonary Hypoplasia |
|
Low-set ears, Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral steno... |
ORPHA:2257 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... |
ORPHA:3246 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Cupped ear, Horseshoe kidney, Abnorm... |
OMIM:301111 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Sandal gap, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, 2-3 toe s... |
ORPHA:477817 |
| Emanuel Syndrome |
|
Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Congenital hip dislocation, L... |
ORPHA:96170 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polyda... |
ORPHA:261243 |
| 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 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Atresia of the external auditory canal, Distal shorte... |
OMIM:146510 |
| Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect |
OMIM:125520 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... |
OMIM:617731 |
| Femoral-Facial Syndrome |
|
Low-set ears, Toe syndactyly, Humeroradial synostosis, Cryptorchidism, Ventricular septal defect,... |
OMIM:134780 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... |
OMIM:231680 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short hallux, Abnormality... |
ORPHA:508488 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Short distal phalanx of finger, Ulnar deviation of finger, Toe syndactyly, Branchial fistula, San... |
ORPHA:261330 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Hearing impa... |
OMIM:618494 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... |
OMIM:174500 |
| Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... |
OMIM:270100 |
| Crossed Polysyndactyly |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Finger syndactyly, Postaxial hand polydactyly |
ORPHA:2935 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating abilit... |
OMIM:614227 |
| Glycogen Storage Disease Iv |
|
Abnormal circulating creatine kinase concentration, Hepatosplenomegaly, Tubulointerstitial fibrosis |
OMIM:232500 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Otodental Syndrome |
|
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... |
ORPHA:2791 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... |
ORPHA:93403 |
| Lethal Congenital Contracture Syndrome 10 |
|
Low-set ears, Overlapping fingers, Femoral bowing, Ventricular septal defect, Cardiomegaly, Talip... |
OMIM:617022 |
| Acrorenal Syndrome |
|
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:971 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Hearing impairment, Tetralogy of Fallot, Adrenal insufficiency, Ventricular septa... |
ORPHA:251076 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Charge Syndrome |
|
Low-set ears, Lymphopenia, Unilateral microphthalmos, Anophthalmia, Cryptorchidism, Ventricular s... |
OMIM:214800 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract in... |
ORPHA:2970 |
| Tetrasomy 15Q26 |
|
Low-set ears, Cupped ear, Horseshoe kidney, Hydronephrosis, Arachnodactyly, Atrial septal defect,... |
OMIM:614846 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hearing impairment, Anophthalmia, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Micro... |
ORPHA:77298 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Neonatal insulin-depen... |
ORPHA:2255 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| 22Q11.2 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Tali... |
ORPHA:567 |
| Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... |
ORPHA:95430 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... |
OMIM:615779 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... |
OMIM:609583 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus |
OMIM:611867 |
| Rubinstein-Taybi Syndrome 1 |
|
Low-set ears, Broad thumb, Hearing impairment, Hypoplastic iliac wing, Cryptorchidism, Mitral val... |
OMIM:180849 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Macroscopic... |
ORPHA:251004 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin |
OMIM:174050 |
| Feingold Syndrome 1 |
|
Interrupted aortic arch, Low-set ears, Accessory spleen, Annular pancreas, Short toe, Short thumb... |
OMIM:164280 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Increased total bilirubin |
ORPHA:890 |
| Holt-Oram Syndrome |
|
Hypoplastic left heart, Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent ... |
ORPHA:392 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| Charge Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Anophthalmia, ... |
ORPHA:138 |
| Pyle Disease |
|
Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,... |
OMIM:265900 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Postaxial polydactyly type A, Broad hallux, Complete atrioventricular canal defect, 2-3 toe synda... |
OMIM:217085 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Midshaft hypospadias, Low-set ears, Camptodactyly of finger, Anterior hypopituitarism, Cryptorchi... |
ORPHA:2863 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hand clenching, Anophthalmia, Mitral valve prolapse, Ventricular septal de... |
OMIM:300166 |
| Hypersulfaturia |
|
Increased urinary sulfate, Nephrolithiasis |
OMIM:620372 |
| Immunodeficiency 33 |
|
Hypodontia, Conical tooth, Delayed eruption of teeth |
OMIM:300636 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
| Netherton Syndrome |
|
Brittle scalp hair, Sparse eyebrow, Recurrent infection of the gastrointestinal tract, Villous at... |
OMIM:256500 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concentration, Decrea... |
OMIM:608836 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Upper limb asymmetry, Abnormal tricuspid valve morphology, Abnormality of the ... |
ORPHA:90308 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... |
OMIM:308940 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2026 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... |
OMIM:274150 |
| Frontonasal Dysplasia 1 |
|
Low-set ears, Cranium bifidum occultum, Joint contracture of the hand, Conductive hearing impairm... |
OMIM:136760 |
| Joubert Syndrome 15 |
|
Micropenis, Nephronophthisis, Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Lactase Deficiency, Congenital |
|
Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Mmep Syndrome |
|
Cryptorchidism, Ventricular septal defect, Triphalangeal thumb, Microphthalmia, Split foot |
ORPHA:3434 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Distal Triplication 15Q |
|
Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Cupped ear, Hydrocele te... |
ORPHA:314588 |
| Arima Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... |
OMIM:243910 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Bardet-Biedl Syndrome 19 |
|
Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Hearing impairment, Hypogon... |
OMIM:615996 |
| Temtamy Syndrome |
|
Low-set ears, Short toe, Aortic aneurysm, Brachydactyly, Microphthalmia, Clinodactyly of the 5th ... |
ORPHA:1777 |
| Megabladder, Congenital |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Multiple glomerular cysts, Patent ductus ... |
OMIM:618719 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia |
ORPHA:673 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia, Posterior pituitary hypoplasia, Ventricular septal defect, Pulmonary artery ste... |
ORPHA:75389 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Low-set ears, Broad thumb, Tetralogy of Fallot, Hypertrophic cardiomyopat... |
ORPHA:251071 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Single transverse palmar crease, Neonatal d... |
OMIM:236500 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Carpal osteolysis, Abnormal hand morphology, Osteolysis involving tarsa... |
ORPHA:371428 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas... |
ORPHA:2260 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena... |
OMIM:146255 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Secondary Short Bowel Syndrome |
|
Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte... |
ORPHA:95427 |
| Maternal Phenylketonuria |
|
Hypoplastic left heart, Hypoplastic helices, Clinodactyly, Tetralogy of Fallot, Abnormal heart mo... |
ORPHA:2209 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Atrioventricular canal defect, Short humerus, Hydronephrosis, Persistent left superior vena cava,... |
OMIM:314390 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Hypercalcemia, Nephrocalcinosis |
ORPHA:33111 |
| Hyperlysinemia |
|
Hypoplastic helices, Pulmonary artery hypoplasia, Hyperlysinuria, Recurrent pneumonia, Hypoplasia... |
ORPHA:2203 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... |
OMIM:232200 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Abnorm... |
ORPHA:261222 |
| Phenobarbital Embryopathy |
|
Low-set ears, Aplasia/Hypoplasia of fingers, Tetralogy of Fallot, Abnormal mitral valve morpholog... |
ORPHA:1919 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
| Reni Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... |
OMIM:617575 |
| Absence Of The Pulmonary Artery |
|
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Tetralogy of Fallot, Ab... |
ORPHA:980 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ... |
ORPHA:94059 |
| Digeorge Syndrome |
|
Low-set ears, Recurrent otitis media, Ovarian cyst, Ventricular septal defect, Renal dysplasia, P... |
OMIM:188400 |
| X-Linked Mandibulofacial Dysostosis |
|
Conductive hearing impairment, Low-set, posteriorly rotated ears, Branchial anomaly, Cryptorchidi... |
ORPHA:1131 |
| 1Q21.1 Microduplication Syndrome |
|
Tetralogy of Fallot, Cryptorchidism, Talipes equinovarus, Hydrocephalus, Hip dysplasia, Hypospadi... |
ORPHA:250994 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... |
ORPHA:275555 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth |
OMIM:619787 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Proteinuria, Renal amyloidosis, Renal insufficiency |
OMIM:134610 |
| Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Interrupted aortic arch, Abnormal renal collecting system morphology, Methylmalonic aciduria, Hyp... |
ORPHA:17 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... |
OMIM:108900 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Short philtrum, Man... |
ORPHA:2325 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... |
ORPHA:97362 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis of carpal bones, Short ... |
ORPHA:1106 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... |
ORPHA:49041 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... |
ORPHA:1891 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:614376 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi... |
OMIM:620511 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Bowing of the long bones, Renal cyst, Atrial septal def... |
OMIM:611134 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Elevated circulating acylcarnitine concentration, Glutaric aciduria, D... |
ORPHA:26791 |
| Oculofaciocardiodental Syndrome |
|
Peripheral pulmonary artery stenosis, Short thumb, Hearing impairment, Genu valgum, Flexion contr... |
ORPHA:2712 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Branchial cyst, Cryptorchidism, Single transverse palmar crease, Sensorineural... |
ORPHA:435938 |
| Distal Deletion 15Q |
|
Low-set ears, Multicystic kidney dysplasia, Small hand, Hearing impairment, Genu valgum, Cryptorc... |
ORPHA:1596 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Renal cyst |
OMIM:614870 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Low-set ears, Single transverse palmar crease, Ventricular septal defect, Clinodactyly of the 5th... |
OMIM:619717 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... |
OMIM:617730 |
| Mosaic Trisomy 9 |
|
Low-set ears, Elbow dislocation, Endocardial fibroelastosis, Cryptorchidism, Ventricular septal d... |
ORPHA:99776 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Proteinuria, Hematuria |
ORPHA:1765 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Clinodactyly, Hearing impairment, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, S... |
OMIM:612541 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Tetralogy of Fallot, Atrial septal defect, Microphthalmia, P... |
OMIM:300887 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Nephroblastoma, Polydactyly, Ventricular septal defect, Hydrocephalus, Microphthal... |
OMIM:602501 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperglycinemia, Hyperamylasemia, Renal insufficiency, Elevated circulating creati... |
OMIM:619386 |
| Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi... |
OMIM:615862 |
| Odontomicronychial Dysplasia |
|
Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los... |
ORPHA:1811 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithias... |
ORPHA:411543 |
| Noonan Syndrome With Multiple Lentigines |
|
Severe sensorineural hearing impairment, Hypertrophic cardiomyopathy, Atrioventricular canal defe... |
ORPHA:500 |
| Chylomicron Retention Disease |
|
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes |
OMIM:246700 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... |
OMIM:120330 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... |
ORPHA:1475 |
| Catel-Manzke Syndrome |
|
Abnormal epiphysis morphology, Camptodactyly of finger, Low-set, posteriorly rotated ears, Radial... |
ORPHA:1388 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Abnormality of thyroid physiolog... |
OMIM:615542 |
| Galloway-Mowat Syndrome 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
| Femoral-Facial Syndrome |
|
Abnormal localization of kidney, Long penis, Polycystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:1988 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract, Microphthalmia, Hyp... |
ORPHA:2547 |
| Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r... |
ORPHA:93598 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
| Down Syndrome |
|
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Acute megakaryocytic leukemia, V... |
OMIM:190685 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Hematuria, Increased blood urea nitrogen, ... |
ORPHA:231111 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Horseshoe kidney, Trident pelvis, Ventricular septal defect, Bowing of t... |
OMIM:614815 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Low-set ears, Clinodactyly of the 5th finger, Patent foramen ovale, Ventricular septal defect, Cl... |
OMIM:620113 |
| Microphthalmia/Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... |
OMIM:235400 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morpho... |
ORPHA:1937 |
| Congenital Tufting Enteropathy |
|
Abnormal large intestinal mucosa morphology, Villous atrophy, Abnormal small intestinal mucosa mo... |
ORPHA:92050 |
| Pallister-Hall-Like Syndrome |
|
Hip dislocation, Microglossia, Occipital encephalocele, Toe syndactyly, Postaxial foot polydactyl... |
OMIM:241800 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia |
OMIM:608776 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Broad thumb, Cryptorchidism, Ventricular septal defect, Sensorineural hear... |
ORPHA:353281 |
| Cardiac Valvular Dysplasia 1 |
|
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... |
OMIM:212093 |
| Bardet-Biedl Syndrome 4 |
|
Renal cyst, Abnormality of the kidney |
OMIM:615982 |
| Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts |
OMIM:613824 |
| Holoprosencephaly |
|
Abnormality of the spleen, Anophthalmia, Abnormal antihelix morphology, Ventricular septal defect... |
ORPHA:2162 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hyperphosphaturia, Proteinuria, Hypoph... |
OMIM:616026 |
| Matthew-Wood Syndrome |
|
Low-set ears, Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Anopht... |
ORPHA:2470 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Abnormal helix morphology, Short thumb, Abnormal lung lobation, A... |
ORPHA:1120 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
| Grange Syndrome |
|
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Short palm, Syndactyly |
ORPHA:79094 |
| Hemifacial Atrophy, Progressive |
|
Tongue atrophy, Dental malocclusion, Delayed eruption of teeth, Short mandibular rami |
OMIM:141300 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Occipital encephalocele, Atresia of the external auditory canal, Un... |
OMIM:164210 |
| Glycogen Storage Disease V |
|
Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Abnor... |
ORPHA:2306 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom... |
OMIM:232220 |
| Gillespie Syndrome |
|
Hypoplasia of the iris, Aniridia, Truncus arteriosus |
OMIM:206700 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth |
ORPHA:71267 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Coarctation of aorta, Right aortic arch |
OMIM:140850 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria |
ORPHA:1473 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... |
ORPHA:99879 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 5th finger, Low-set ears, Broad thumb, Secundum atrial septal defect, Sandal gap, Broad hal... |
OMIM:600987 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... |
ORPHA:347 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria |
OMIM:618347 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Aortic valve stenosis, Low-set ears, Broad thumb, Cryptorchidism, Ventricular septal defect, Sens... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Aortic valve stenosis, Low-set ears, Broad thumb, Cryptorchidism, Ventricular septal defect, Sens... |
ORPHA:353277 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter, Deviation of finger |
ORPHA:1450 |
| Ciliary Dyskinesia, Primary, 52 |
|
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Recurrent otitis... |
OMIM:620570 |
| Cednik Syndrome |
|
Proteinuria, Nephrotic syndrome |
ORPHA:66631 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria |
OMIM:606996 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag... |
OMIM:301050 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger |
OMIM:187500 |
| Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
| Neurooculocardiogenitourinary Syndrome |
|
Low-set ears, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiome... |
OMIM:618652 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... |
OMIM:142900 |
| Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
| Focal Dermal Hypoplasia |
|
Low-set ears, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Hearing impairment... |
ORPHA:2092 |
| Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Hypercalcemia, Patent ductus arteriosus |
ORPHA:2123 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Sensorineural hearing impairment, Radioulnar synostosis, Amegakaryocytic throm... |
ORPHA:71289 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Low-set ears, Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overl... |
OMIM:618142 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... |
ORPHA:2704 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Hearing impairment, Recurrent otitis media, Recurrent sinusitis, ... |
ORPHA:85202 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Fryns Syndrome |
|
Abnormal aortic arch morphology, Multicystic kidney dysplasia, Short distal phalanx of finger, Te... |
ORPHA:2059 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Waardenburg Syndrome Type 2 |
|
Sensorineural hearing impairment, Hearing impairment, Abnormality of the pulmonary artery, Abnorm... |
ORPHA:895 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Splenomegaly, Ureteral atresi... |
OMIM:208540 |
| Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia, Pulmonary hypoplasia |
ORPHA:3032 |
| Catifa Syndrome |
|
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft... |
OMIM:618761 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Proteinuria, He... |
OMIM:613404 |
| Ventricular Septal Defect 1 |
|
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... |
OMIM:614429 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger, Brachydactyly, Cryptorchidism |
ORPHA:3303 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:166300 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... |
OMIM:191800 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Peripheral pulmonary artery stenosis, Short thumb, Overlapping toe, Arachnodactyly, Talipes equin... |
ORPHA:436003 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Patent... |
OMIM:617303 |
| Bardet-Biedl Syndrome 5 |
|
Micropenis, Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Enterocolitis |
OMIM:616050 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... |
OMIM:619079 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Polycystic ovari... |
ORPHA:79259 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Peripheral pulmonary artery stenosis, Clubbing of toes, Hearing impairment, Recurrent respiratory... |
ORPHA:163956 |
| Carpenter Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valg... |
OMIM:201000 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Low-set ears, Broad thumb, Overlapping toe, Sensorineural hearing impairment, Bicuspid aortic val... |
OMIM:612474 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Sandal gap, Hearing impairment, Ventricular septal defect, Bicuspid aortic ... |
OMIM:616652 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Abnormal 3rd finger morphology... |
OMIM:249670 |
| Fetal Encasement Syndrome |
|
Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydr... |
OMIM:613630 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy |
OMIM:600955 |
| Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Sensorineural hearing impairment, Aplasia of metacarpal bones, Atrial ... |
OMIM:607323 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Low-set ears, Hypospadias, Ventricular septal defect, Atrial septal defect, Pectus excavatum, Pul... |
OMIM:618330 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Cryptorchidism, Orbital encephalocele, Microphthalmia |
OMIM:164180 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... |
ORPHA:1455 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Postaxial foot polydactyly, Broad thumb, Y-shaped metatarsals, Bro... |
OMIM:175700 |
| Fetal Minoxidil Syndrome |
|
Umbilical hernia, Low-set, posteriorly rotated ears, Cryptorchidism, Ventricular septal defect, C... |
ORPHA:1918 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Hypoplasia of the iris, Cryptorchidism, Ventricular septal ... |
OMIM:613001 |
| 2Q24 Microdeletion Syndrome |
|
Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of fing... |
ORPHA:1617 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Joint contracture of the hand, Abnormal helix morphology, Abnormal heart morpholog... |
OMIM:214110 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly |
OMIM:234280 |
| Joubert Syndrome 14 |
|
Low-set ears, Encephalocele, Ventricular septal defect, Postaxial polydactyly, Renal cyst, Hydroc... |
OMIM:614424 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormal tibia morphology, Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe clinodactyly, Toe syndactyly, Low-set, posteriorly rotated ears, Ventricular septal defect, P... |
ORPHA:261120 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... |
OMIM:276700 |
| Aortic Arch Interruption |
|
Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Bicuspid aortic valve, ... |
ORPHA:2299 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Meckel Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Anophthalmia, Cryptorchidism, Encephalo... |
ORPHA:564 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Low-set ears, Broad thumb, Clinodactyly, Hearing impairment, Vesicoureteral reflux, Cryptorchidis... |
OMIM:616894 |
| Feingold Syndrome 2 |
|
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septal defec... |
OMIM:614326 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Short thumb, Ventricular septal defect, Brachydactyly, Short middle phalanx of fi... |
ORPHA:391646 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia |
OMIM:154020 |
| Polydactyly, Postaxial, Type A1 |
|
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... |
OMIM:174200 |
| Li-Campeau Syndrome |
|
Low-set ears, Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defec... |
OMIM:619189 |
| Ciliary Dyskinesia, Primary, 20 |
|
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... |
OMIM:615067 |
| Triphalangeal Thumb With Polysyndactyly |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... |
OMIM:190605 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Fibular aplasia, Aplasia/Hypoplasia of the patella, Sensorineural... |
ORPHA:3320 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Villous atrophy |
OMIM:602579 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Low-set ears, Toe syndactyly, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial septal d... |
OMIM:300707 |
| Monosomy 18Q |
|
Aortic valve stenosis, Bilateral conductive hearing impairment, Sensorineural hearing impairment,... |
ORPHA:1600 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Ventricular septal defect, Large hand... |
OMIM:280000 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Increased level of... |
OMIM:230400 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections |
OMIM:618882 |
| Frank-Ter Haar Syndrome |
|
Low-set ears, Mitral valve prolapse, Ventricular septal defect, Bowing of the long bones, Talipes... |
OMIM:249420 |
| Nephronophthisis 19 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Splenomegaly, Renal int... |
OMIM:616217 |
| 20Q13.33 Microdeletion Syndrome |
|
Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Prominent crus of helix,... |
ORPHA:261311 |
| Odontochondrodysplasia 1 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:184260 |
| Supravalvular Aortic Stenosis |
|
Peripheral arterial stenosis, Pulmonary artery stenosis, Pulmonic stenosis |
OMIM:185500 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short thumb, Microphallus... |
OMIM:603467 |
| Fanconi Anemia, Complementation Group B |
|
Low-set ears, Bilateral radial aplasia, Absent thumb, Optic disc hypoplasia, Renal agenesis, Abno... |
OMIM:300514 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent p... |
OMIM:613177 |
| 6P22 Microdeletion Syndrome |
|
Low-set ears, Finger syndactyly, Clinodactyly, Hearing impairment, Hydronephrosis, Hydrocephalus,... |
ORPHA:251046 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
2-3 toe cutaneous syndactyly, Cutaneous syndactyly of toes, Dilation of Virchow-Robin spaces, Con... |
OMIM:300998 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... |
OMIM:609057 |
| Alg3-Cdg |
|
Hearing impairment, Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, ... |
ORPHA:79321 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli... |
ORPHA:439232 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, High palate, Villous atrophy |
OMIM:601110 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat... |
OMIM:607941 |
| Non-Functioning Paraganglioma |
|
Hematuria, Elevated urinary dopamine level, Elevated urinary epinephrine level, Elevated urinary ... |
ORPHA:94080 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Low-set ears, Talipes equinovarus, Rocker bottom foot, Microphthalmia |
OMIM:616570 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Short fourth metatarsal, Hypogonadism, Mesoaxial hand polydactyly, St... |
OMIM:615994 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Aortic valve stenosis, Low-set ears, Clinodactyly, Hearing impairment, Long hallux, Overlapping t... |
OMIM:618164 |
| Retinitis Pigmentosa 59 |
|
Micropenis, Hepatomegaly, Renal insufficiency |
OMIM:613861 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Low-set, posteriorly rotated ears, A... |
ORPHA:1110 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... |
ORPHA:3269 |
| Fetal Trimethadione Syndrome |
|
Low-set ears, Abnormal helix morphology, Tetralogy of Fallot, Bilateral single transverse palmar ... |
ORPHA:1913 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla... |
ORPHA:449395 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Macrotia, Microphthalmia |
OMIM:600776 |
| Nephroblastoma |
|
Hematuria, Nephroblastoma |
ORPHA:654 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia |
OMIM:612076 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Vesicoureteral reflux, Hydronephros... |
ORPHA:2237 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:63442 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Toe clinodactyly, Low-set ears, Secundum atrial septal defect, Aortic root aneurysm, Clinodactyly... |
OMIM:619910 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Vesico... |
OMIM:113650 |
| Trisomy 17P |
|
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Patent ductus a... |
ORPHA:261290 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated... |
ORPHA:368 |
| Meacham Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Horse... |
ORPHA:3097 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Renal insufficiency, Proteinuria |
ORPHA:182050 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Unilateral renal agenesis, Tetralogy of Fallot, Low-set, posteriorly rotated ... |
ORPHA:3306 |
| Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
| Orofaciodigital Syndrome Xvii |
|
Low-set ears, Renal hypoplasia, Clinodactyly, Hearing impairment, Tetralogy of Fallot, Short midd... |
OMIM:617926 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Hydrolethalus |
|
Low-set ears, Micromelia, Low-set, posteriorly rotated ears, Anophthalmia, Cryptorchidism, Hydroc... |
ORPHA:2189 |
| Recombinant 8 Syndrome |
|
Low-set ears, Hearing impairment, Camptodactyly of finger, Tetralogy of Fallot, Patellar aplasia,... |
ORPHA:96167 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Micromelia, Umbilical hernia, Abnormality of the ureter, Genu valgum, Arachnodactyly,... |
ORPHA:1035 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short thumb, Abnormal heart morphology, Stage 5 chronic kidney disease, Cryptorchid... |
OMIM:613390 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... |
OMIM:248190 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Low-set ears, Horseshoe kidney, Cryptorchidism, Abnormality of the endocrine system, Ventricular ... |
ORPHA:166035 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Trisomy 8P |
|
Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Cryptorchidism, ... |
ORPHA:264450 |
| Anophthalmia Plus Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Deviation of finger, Low-set, posteriorly rotated ears, Anoph... |
ORPHA:1104 |
| Kleefstra Syndrome |
|
Hearing impairment, Recurrent respiratory infections, Supernumerary nipple, Tetralogy of Fallot, ... |
ORPHA:261494 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Low-set ears, Dilated cardiomyopathy, Clinodactyly, Biventricular hypertrophy, Coronary artery fi... |
OMIM:619343 |
| Scleromyxedema |
|
Abnormal forearm morphology, Abnormal pulmonary artery morphology, Abnormal coronary artery morph... |
ORPHA:167635 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Hydrocephalus, Postaxial hand polydactyly |
OMIM:615938 |
| Cat Eye Syndrome |
|
Hypoplastic left heart, Low-set ears, Total anomalous pulmonary venous return, Renal agenesis, He... |
OMIM:115470 |
| Cerebrooculonasal Syndrome |
|
Low-set, posteriorly rotated ears, Anophthalmia, Abnormal tragus morphology, Postaxial hand polyd... |
ORPHA:66625 |
| Acquired Ichthyosis |
|
Renal insufficiency |
ORPHA:454 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Sandal gap, Abnormality of the ureter, Renal hypoplasia/aplasia, Microcephaly, Aplasia/Hypoplasia... |
ORPHA:1046 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Low-set ears, Unbalanced atrioventricular canal defect, Broad thumb, Dilatation of the renal pelv... |
OMIM:619534 |
| Perlman Syndrome |
|
Interrupted aortic arch, Low-set ears, Renal hamartoma, Nephroblastomatosis, Nephrogenic rest, Cr... |
OMIM:267000 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Villous atrophy, Ileus |
OMIM:304790 |
| Kapur-Toriello Syndrome |
|
Low-set ears, Joint contracture of the hand, Abnormality of the urinary system, Conductive hearin... |
OMIM:244300 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... |
ORPHA:93126 |
| Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration |
OMIM:179830 |
| Glanzmann Thrombasthenia |
|
Macroscopic hematuria |
ORPHA:849 |
| 3P25.3 Microdeletion Syndrome |
|
Acromesomelia, Broad thumb, Broad hallux, Overlapping toe, Ventricular septal defect, Coronary ar... |
ORPHA:435638 |
| Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Cryptorchid... |
OMIM:613834 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction |
ORPHA:289916 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Ventricular septal defect, Microphthalmia, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hearing impairment, Hypoplastic iliac win... |
OMIM:609945 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Proteinuria, Tubulointerstitial nephritis |
OMIM:616901 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... |
OMIM:154230 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Abnormal heart morph... |
ORPHA:84064 |
| Mosaic Trisomy 16 |
|
Short forearm, Clinodactyly, Short femoral neck, Short thumb, Horseshoe kidney, Abnormal heart mo... |
ORPHA:1708 |
| Developmental And Epileptic Encephalopathy 111 |
|
Hypoplastic left heart, Low-set ears, Umbilical hernia, Biventricular hypertrophy, Cryptorchidism... |
OMIM:620504 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal lung lobation... |
ORPHA:2631 |
| Mckusick-Kaufman Syndrome |
|
Hypoplastic left heart, Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndacty... |
ORPHA:2473 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... |
OMIM:223900 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia |
OMIM:242050 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath... |
ORPHA:411634 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria |
OMIM:215250 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Patent ductus arteriosus |
OMIM:617661 |
| Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Short finger, Hearing impairment, Large fleshy ears, Cryptor... |
OMIM:602342 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Hepatomegaly, Hyperlipidemia, Abnormality of the kidney |
ORPHA:369 |
| Chromosome 15Q25 Deletion Syndrome |
|
Low-set ears, Polysplenia, Coronary artery fistula, Cryptorchidism, Macrocytic anemia, Ventricula... |
OMIM:614294 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... |
OMIM:137920 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst |
OMIM:614091 |
| Acro-Renal-Ocular Syndrome |
|
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Renal hyp... |
ORPHA:959 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Ketonuria, Beta 2-microglobulinuria, Glycosuria, Hyperbi... |
OMIM:227810 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... |
ORPHA:99845 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Low-set ears, Congenital pulmonary airway malformation, Hypoplasia of the bladder, Renal agenesis... |
OMIM:611812 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Tetralogy of Fallot, Genu valgum, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of p... |
ORPHA:1381 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Abnormal common carotid ar... |
ORPHA:449400 |
| 14Q22Q23 Microdeletion Syndrome |
|
Renal hypoplasia, Toe syndactyly, Cupped ear, Finger syndactyly, Hearing impairment, Atresia of t... |
ORPHA:264200 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Low-set ears, Rhizomelia, Abnormal epiphysis morphology, Abnormal metaphysis morphology, Ventricu... |
ORPHA:93267 |
| Stevenson-Carey Syndrome |
|
Low-set ears, Joint contracture of the hand, Recurrent urinary tract infections, Atrial septal de... |
OMIM:611961 |
| Say Syndrome |
|
Cystic renal dysplasia, Proximal renal tubular acidosis |
OMIM:181180 |
| Axial Osteomalacia |
|
Renal cyst, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Joubert Syndrome 20 |
|
Renal cyst |
OMIM:614970 |
| Alagille Syndrome |
|
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormality of the ureter, ... |
ORPHA:52 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia, Cupped ear, Sandal gap, Umbilical hernia, Joint contracture of the 5th finger, ... |
OMIM:618914 |
| Heme Oxygenase 1 Deficiency |
|
Hematuria, Nephritis, Proteinuria |
OMIM:614034 |
| Trisomy X |
|
Precocious puberty, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:3375 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Abnormal small intestine morphology |
ORPHA:100025 |
| Pentalogy Of Cantrell |
|
Aplasia/Hypoplasia of the radius, Renal agenesis, Polysplenia, Tetralogy of Fallot, Abnormal peri... |
ORPHA:1335 |
| Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia, Abnormality of the pulmonary artery |
ORPHA:1065 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Short 5th finger, Short distal phalanx of fing... |
OMIM:220500 |
| Kapur-Toriello Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Tetralogy of Fallot, Ventricular septal def... |
ORPHA:2328 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... |
ORPHA:1457 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Polysyndactyly With Cardiac Malformation |
|
Preaxial hand polydactyly, Hepatic cysts, Ventricular septal defect, Renal cyst, Duplication of p... |
OMIM:263630 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:91138 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Chronic kidney disease, Renal tubular acidosis, 3-Methylglutaconic aciduria, Elevated circulating... |
ORPHA:324525 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... |
ORPHA:3337 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Spinal Muscular Atrophy With Impaired Intellectual Development |
|
Microcephaly, Syndactyly |
OMIM:271109 |
| Congenital Tracheal Stenosis |
|
Hypoplastic left heart, Abnormal lung morphology, Abnormal earlobe morphology, Abnormal lung loba... |
ORPHA:141127 |
| Immune Thrombocytopenia |
|
Hematuria |
ORPHA:3002 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
| Fraser Syndrome 1 |
|
Low-set ears, Atresia of the external auditory canal, Abnormal middle ear morphology, Cutaneous f... |
OMIM:219000 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def... |
OMIM:620210 |
| Jeune Syndrome |
|
Nephropathy, Nephronophthisis, Renal insufficiency |
ORPHA:474 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia |
OMIM:608022 |
| Rhabdoid Tumor |
|
Hematuria, Renal neoplasm |
ORPHA:69077 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Short toe, Syndactyly |
OMIM:614341 |
| Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Hyperglycinemia... |
ORPHA:79101 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Abnormal morphology of the radius, Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Hepatomegaly, Bence Jones Proteinuria, Splenomegaly |
ORPHA:100024 |
| Mycophenolate Mofetil Embryopathy |
|
Hearing impairment, Atresia of the external auditory canal, Anotia, Ventricular septal defect, Co... |
ORPHA:268249 |
| Temtamy Syndrome |
|
Low-set ears, Lop ear, Talipes equinovarus, Aortic aneurysm, Brachydactyly, Microphthalmia, Short... |
OMIM:218340 |
| Marden-Walker Syndrome |
|
Low-set ears, Renal hypoplasia, Joint contracture of the hand, Cryptorchidism, Arachnodactyly, Ta... |
OMIM:248700 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Anophthalmia, Prominent ear helix |
ORPHA:411986 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Microphthalmia |
ORPHA:2432 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Talipes equinova... |
OMIM:301039 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Umbilical hernia, Preaxial foot poly... |
ORPHA:65759 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Low-set ears, Supernumerary nipple, Atrioventricular canal defect, Cryptorchidism, Coarctation of... |
OMIM:618929 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep... |
OMIM:614980 |
| Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Short finger, Hearing impairment, Excessive wrinkling of pal... |
ORPHA:487825 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Lymphopenia, Decreased response to growth hormone stimulation test, Ventricu... |
OMIM:618624 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Renal insufficiency |
OMIM:300653 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Abdominal a... |
OMIM:610168 |
| Refractory Celiac Disease |
|
Protein-losing enteropathy, Villous atrophy, Jejunitis |
ORPHA:398063 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Cupped ear, Hearing impairment, Tetralogy of Fallot, Vesicoureteral reflux, Renal i... |
OMIM:617159 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hearing impairment, Overlapping toe, Cryptorchidism, Encephalocele, Talipes equinovarus, Small th... |
OMIM:619148 |
| Alg1-Cdg |
|
Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney |
ORPHA:79327 |
| Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Polysplenia, Recurrent otitis media, Situs inversus totalis, Chronic bronchi... |
OMIM:615482 |
| Gaucher Disease, Type Ii |
|
Bronchiolitis, Splenomegaly, Thrombocytopenia, Anemia, Recurrent aspiration pneumonia, Double aor... |
OMIM:230900 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... |
OMIM:618342 |
| Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin concentration, Functional abnorma... |
ORPHA:90362 |
| Orthostatic Hypotension 1 |
|
Elevated circulating dihydroxyphenylacetic acid concentration, Nocturia, Increased blood urea nit... |
OMIM:223360 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, C... |
OMIM:609053 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Toe syndactyly, Renal agenesis, Horseshoe kidney, Mitral atresia, Vesicoureteral reflux, Renal in... |
ORPHA:140952 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Renal tubular dysfunction, Double outlet right ventricle, Atrial septal defect, H... |
OMIM:614886 |
| Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth |
OMIM:601319 |
| Hoxha-Aliu Syndrome |
|
Low-set ears, Overlapping toe, Absent fifth metatarsal, Atrial septal defect, Uplifted earlobe, S... |
OMIM:620662 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... |
OMIM:610338 |
| Meckel Syndrome 14 |
|
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Post... |
OMIM:619879 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus... |
ORPHA:141333 |
| Glucose-Galactose Malabsorption |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:35710 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Gastroesophageal reflu... |
ORPHA:1834 |
| Giant Cell Arteritis |
|
Vasculitis, Conductive hearing impairment, Aortic dissection, Double outlet right ventricle with ... |
ORPHA:397 |
| Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect |
OMIM:601322 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Hearing impairment, Intestinal lymphangiectasia, Pulmonary lymphangiectasia, Camptodactyly, Peric... |
OMIM:616006 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Small hand, Clinodactyly, Aortic valve prolapse, Ventricular septal... |
OMIM:619980 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Bowing of the long bones, Renal cyst, Postaxial hand polydactyly, Mic... |
OMIM:603194 |
| Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, Anophthalmia, Cryptorchidism, Sensorineural hearin... |
ORPHA:139471 |
| Short-Rib Thoracic Dysplasia 12 |
|
Low-set ears, Hypoplastic scapulae, Ventricular septal defect, Short foot, Holoprosencephaly, Abn... |
OMIM:269860 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly |
OMIM:607539 |
| 2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Finger syndactyly, Conductive hearing i... |
ORPHA:1001 |
| Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormality of the bladder |
ORPHA:1839 |
| Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Orotic Aciduria |
|
Oroticaciduria, Hematuria, Orotic acid crystalluria |
OMIM:258900 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Hyperbilirubinemia, Renal insufficiency |
ORPHA:713 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections |
OMIM:618161 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Maternal diabetes,... |
ORPHA:2248 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:276621 |
| Glycogen Storage Disease Vii |
|
Hematuria, Exercise-induced myoglobinuria |
OMIM:232800 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Hematochezia, Premature graying of hair |
OMIM:277175 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Proteinuria, Hepatosplenomegaly, Membranoproliferative glomerulonephritis |
OMIM:619858 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Microcephaly, Clinodactyly of the 5th finger, Abnormali... |
ORPHA:3268 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Low-set ears, Clinodactyly of the 2nd finger, Ventricular septal defect, Atrial septal defect, Di... |
OMIM:620663 |
| Moebius Syndrome |
|
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... |
OMIM:157900 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri... |
OMIM:254900 |
| Ramon Syndrome |
|
Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth |
ORPHA:3019 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly, S... |
OMIM:610140 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Cryptorchidis... |
ORPHA:2256 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Hypokalemia, Proteinu... |
ORPHA:213 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Ventricu... |
ORPHA:261183 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Short 5th finger, Acromesomelia, Recurrent pneumonia, Abnormal earlobe morphology, Umbilical hern... |
ORPHA:500159 |
| Muckle-Wells Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal amyloidosis, Renal insufficiency |
OMIM:191900 |
| Ogden Syndrome |
|
Low-set ears, Broad hallux, Cryptorchidism, Ventricular septal defect, Pulmonary artery stenosis,... |
ORPHA:276432 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... |
OMIM:600740 |
| Vacterl With Hydrocephalus |
|
Microtia, third degree, Renal agenesis, Anotia, Anophthalmia, Cryptorchidism, Renal hypoplasia/ap... |
ORPHA:3412 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Overlapping fingers, Absent uvula, Talipes equinovarus, Fem... |
OMIM:616531 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Walker-Warburg Syndrome |
|
Low-set ears, Metatarsus valgus, Anophthalmia, Cryptorchidism, Protruding ear, Hydrocephalus, Mic... |
ORPHA:899 |
| Syndactyly Type 3 |
|
Short toe, Finger syndactyly, Camptodactyly of finger |
ORPHA:93404 |
| Encephalocraniocutaneous Lipomatosis |
|
Interrupted aortic arch, Aortic valve stenosis, Abnormal aortic morphology, Tricuspid valve prola... |
ORPHA:2396 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, Postaxial polydactyly, Renal cy... |
OMIM:614175 |
| Martsolf Syndrome 1 |
|
Low-set ears, Cryptorchidism, Talipes equinovarus, Broad fingertip, Microphthalmia, Finger joint ... |
OMIM:212720 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Fing... |
ORPHA:1507 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Ve... |
OMIM:113000 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias |
OMIM:619428 |
| Viss Syndrome |
|
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Genu valgu... |
OMIM:619472 |
| Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy |
OMIM:619510 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Hypoplasia of the thymus, Impaired lymphocyte transformation with... |
OMIM:300400 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Renal cyst, Postax... |
OMIM:611561 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
| Phace Association |
|
Arterial stenosis, Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid, Aortic ... |
OMIM:606519 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis |
OMIM:606995 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... |
OMIM:274000 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... |
OMIM:219730 |
| Laurence-Moon Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus |
ORPHA:2377 |
| Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Toe syndactyly, Supernumerary nipple, Tetralogy of... |
OMIM:100300 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Abnormality of the ureter, Intraute... |
ORPHA:2311 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
| Cornelia De Lange Syndrome 6 |
|
Low-set ears, Short 1st metacarpal, Macrotia, Atrioventricular canal defect, Clinodactyly of the ... |
OMIM:620568 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Cupped ear, Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal def... |
OMIM:613870 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Abnormality of t... |
ORPHA:2869 |
| Pulmonary Hypertension, Primary, 1 |
|
Arterial intimal fibrosis, Pulmonary artery vasoconstriction, Pulmonary aterial intimal fibrosis,... |
OMIM:178600 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:79312 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Low-set ears, Deviation of the 2nd finger, Recurrent pneumonia, Cholelithiasis, Finger syndactyly... |
ORPHA:464738 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Low-set ears, Abnormal B cell morphology, Cupped ear, Decreased response to growth hormone stimul... |
OMIM:618223 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome, Splenomegaly, Hepatomegaly |
ORPHA:834 |
| Sonoda Syndrome |
|
High axial triradius, Ventricular septal defect |
OMIM:270460 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Ren... |
ORPHA:1667 |
| Liddle Syndrome 1 |
|
Hypokalemia, Renal insufficiency, Decreased circulating renin level |
OMIM:177200 |
| Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... |
ORPHA:447 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted upper lip vermilion, Delayed eruption of teeth, Everted lower lip vermilion, Microdontia |
ORPHA:181 |
| Silver-Russell Syndrome 1 |
|
Abnormality of the ureter, Intrauterine growth retardation, Nephroblastoma, Short distal phalanx ... |
OMIM:180860 |
| Aortic Valve Disease 1 |
|
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... |
OMIM:109730 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mild proteinuria |
OMIM:301108 |
| Weiss-Kruszka Syndrome |
|
Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Dextrotransposition of th... |
OMIM:618619 |
| Stuve-Wiedemann Syndrome 1 |
|
Low-set ears, Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Hypoplastic iliac b... |
OMIM:601559 |
| Xanthinuria, Type I |
|
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... |
OMIM:278300 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Low-set ears, Renal dysplasia, Decreased response to growth hormone stimulation test, Mitral sten... |
OMIM:617260 |
| Split-Hand/Foot Malformation 1 |
|
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Hearing impairment, ... |
OMIM:183600 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Hea... |
ORPHA:84 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cryptorchidism, Ventricular septal defect, Sensorineural heari... |
OMIM:206900 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... |
ORPHA:79403 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Myelomeningocele, Situs i... |
OMIM:613686 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral agenesis, Intrauterine growth retardation, Anal atresia, Ureteral dysgen... |
OMIM:274265 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Small hypothenar eminence, Abnormality of the urinary system, Tetralogy of Fa... |
ORPHA:96092 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Aortic atherosclerotic lesi... |
ORPHA:363618 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
| Joubert Syndrome 7 |
|
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611560 |
| Wahab Syndrome |
|
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... |
OMIM:615170 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Bronchiolitis obliterans, Decreased proportion of C... |
OMIM:617241 |
| Vacterl/Vater Association |
|
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Finge... |
ORPHA:887 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Low-set ears, Slender finger, Broad thumb, Umbilical hernia, Cryptorchidism, Patent foramen ovale... |
ORPHA:329224 |
| Gordon Syndrome |
|
Finger syndactyly, Hearing impairment, Camptodactyly of finger, Cryptorchidism, Clinodactyly of t... |
ORPHA:376 |
| Sandestig-Stefanova Syndrome |
|
Low-set ears, Clinodactyly, Muscular ventricular septal defect, Underdeveloped tragus, Bilateral ... |
OMIM:618804 |
| Ellis Van Creveld Syndrome |
|
Acute leukemia, Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Cryptorchidis... |
ORPHA:289 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Renal insufficiency, Decreased circulating renin level, Hypokalemia, Left ventr... |
ORPHA:320 |
| Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Lop ear, Ventric... |
OMIM:107480 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti... |
ORPHA:952 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Low-set ears, Hypoplastic helices, Caudal appendage, Ureteral stenosis, Ho... |
OMIM:272950 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Type I diabetes mellitus, Hearing impairment, Abnormal heart ... |
ORPHA:488618 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Cryptorchidi... |
OMIM:616300 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:617866 |
| Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Arachnodactyly, Hip dislocation, Macrotia, Hypertrophic cardiomyopathy, Ava... |
ORPHA:3342 |
| 3C Syndrome |
|
Aortic valve stenosis, Hypoplastic left heart, Low-set ears, Finger syndactyly, Recurrent respira... |
ORPHA:7 |
| Bresek Syndrome |
|
Low-set ears, Renal hypoplasia, Hypoplasia of the bladder, Hearing impairment, Decreased testicul... |
ORPHA:85284 |
| Tarp Syndrome |
|
Low-set ears, Prominent antihelix, Subdural hemorrhage, Clinodactyly, Tetralogy of Fallot, Horses... |
OMIM:311900 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Acute kidney injury, Cardiomegaly, Increased circulating ferritin concentration |
OMIM:618886 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Renal insufficiency |
ORPHA:281090 |
| Fraser Syndrome 2 |
|
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenes... |
OMIM:617666 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Increased axial length of the globe, Recurrent otitis media, Right aortic arch, Ventricular septa... |
ORPHA:513456 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Clinodactyly, Hearing impairment, Brachydactyly, Microphthalmia, Syndactyly |
OMIM:610023 |
| Aminopterin Syndrome Sine Aminopterin |
|
Joint contracture of the hand, Clinodactyly, Short thumb, Umbilical hernia, Intrauterine growth r... |
OMIM:600325 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St... |
ORPHA:567546 |
| Periventricular Nodular Heterotopia 1 |
|
Clinodactyly, Short finger, Stroke, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus art... |
OMIM:300049 |
| Joubert Syndrome 39 |
|
Polycystic kidney dysplasia |
OMIM:619562 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... |
ORPHA:107 |
| Fanconi Anemia, Complementation Group D2 |
|
Low-set ears, Hearing impairment, Pancytopenia, Cryptorchidism, Neutropenia, Absent radius, Dupli... |
OMIM:227646 |
| Kaposiform Lymphangiomatosis |
|
Fractures of the long bones, Pancreatic cysts, Abnormal pelvis bone morphology, Abnormal femur mo... |
ORPHA:464329 |
| Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis |
OMIM:204690 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly |
OMIM:263450 |
| Mhc Class Ii Deficiency 1 |
|
Colitis, Villous atrophy |
OMIM:209920 |
| Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
| Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Umbilical hernia, Generaliz... |
OMIM:208050 |
| Congenital Toxoplasmosis |
|
Hearing impairment, Cardiomegaly, Lymphadenopathy, Thrombocytopenia, Microphthalmia, Anemia, Hydr... |
ORPHA:858 |
| Vascular Malformation, Primary Intraosseous |
|
Gingival bleeding, Ectopic tooth eruption |
OMIM:606893 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr... |
OMIM:613090 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of finger, Optic disc hypoplasia, Epiphyseal stippling of toe phalanges, Epi... |
ORPHA:79345 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... |
OMIM:216360 |
| Baraitser-Winter Syndrome 1 |
|
Aortic valve stenosis, Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Bicuspid a... |
OMIM:243310 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Low-set ears, Overlapping toe, Ventricular septal defect, Atrial septal defect, Clinodactyly of t... |
OMIM:618974 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Renal cyst, Multiple renal cysts |
OMIM:614883 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva... |
ORPHA:284426 |
| Syndactyly, Type Iv |
|
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... |
OMIM:186200 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Sens... |
ORPHA:500095 |
| Meckel Syndrome, Type 1 |
|
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Clinodactyly, Abnormality of t... |
OMIM:249000 |
| Amyloidosis, Finnish Type |
|
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... |
OMIM:105120 |
| Suleiman-El-Hattab Syndrome |
|
Low-set ears, Clinodactyly, Hearing impairment, Cryptorchidism, Patent foramen ovale, Ventricular... |
OMIM:618950 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein... |
ORPHA:93552 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:613550 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglyca... |
ORPHA:505248 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchidism, Thia... |
OMIM:249270 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Hypospadias, Renal insufficiency, Nephroblastoma |
OMIM:194072 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low-set ears, Short tibia, Preaxial polydactyly, Tetralogy of Fallot, Absent gallbladder, Complet... |
OMIM:617925 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Low-set ears, Conductive hearing impairment, Short toe, Sandal gap, Short 5th metacarpal, Spina b... |
OMIM:617877 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, 3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Abnormality of the urethra, Finger syndactyly, Micromelia, Intrauterine growth retardation, Abnor... |
ORPHA:2145 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hearing impairment, Atresia of the external auditory canal, Tetralogy of Fallot, Absent gallbladd... |
ORPHA:3186 |
| Cat-Eye Syndrome |
|
Hearing impairment, Renal hypoplasia/aplasia, Hydronephrosis, Hip dysplasia, Microphthalmia, Abno... |
ORPHA:195 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Acropectoral Syndrome |
|
Finger syndactyly, Preaxial hand polydactyly |
ORPHA:85203 |
| Roifman Syndrome |
|
Recurrent pneumonia, Short toe, Recurrent otitis media, Irregular femoral epiphysis, Splenomegaly... |
OMIM:616651 |
| Peters Plus Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Cryptorchidism, Renal hypoplasia/aplasia, Short foo... |
ORPHA:709 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Postaxial foot polydactyly, Hepatosplenomega... |
OMIM:267010 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Catel-Manzke Syndrome |
|
Low-set ears, Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation of th... |
OMIM:616145 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary artery dilatation, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aorti... |
OMIM:620067 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger... |
OMIM:235510 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... |
OMIM:620135 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Low-set ears, Sandal gap, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Talipe... |
OMIM:612530 |
| Marden-Walker Syndrome |
|
Low-set ears, Multicystic kidney dysplasia, Ventricular septal defect, Arachnodactyly, Radioulnar... |
ORPHA:2461 |
| Ciliary Dyskinesia, Primary, 30 |
|
Recurrent otitis media, Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, De... |
OMIM:616037 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Alopecia universalis, Patchy alopecia, Villous atrophy |
OMIM:606367 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
2-3 toe cutaneous syndactyly, Low-set ears, Renal hypoplasia, Hearing impairment, Microphallus, S... |
OMIM:618454 |
| Timothy Syndrome |
|
Pneumonia, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Card... |
OMIM:601005 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cyst, Renal cell carcinoma |
OMIM:135150 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:36412 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Elevated urinary dopamine level, Increased blood u... |
ORPHA:230 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration, Proteinur... |
OMIM:607426 |
| Cousin Syndrome |
|
Low-set ears, Hypoplastic scapulae, Joint contracture of the hand, Hearing impairment, Hypoplasti... |
OMIM:260660 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Intestinal malrotation, ... |
OMIM:615237 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth |
OMIM:615905 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Elevated circulating creatinine concentration |
OMIM:616733 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:27 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration |
OMIM:619111 |
| Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... |
ORPHA:416 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ven... |
ORPHA:99125 |
| Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Splenomegaly, Renal cyst, Hepatomegaly, Pancreatic cysts, Polycystic kidney dysplasia, Increased ... |
OMIM:610199 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Secundum atrial septal defect, Short thumb, Hearing impairment, Atresi... |
OMIM:612562 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Hemophilia B |
|
Hematuria |
ORPHA:98879 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t... |
ORPHA:84081 |
| Noonan Syndrome 2 |
|
Low-set ears, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic v... |
OMIM:605275 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border |
OMIM:601957 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Renal insufficiency, Hepatomegaly, Membranoproliferative glomerulonephritis, ... |
OMIM:619644 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Wide mouth, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border |
OMIM:618506 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Absent testis, Microphthalmia |
OMIM:613094 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
| Contractural Arachnodactyly, Congenital |
|
Ulnar deviation of finger, Crumpled ear, Aortic root aneurysm, Elbow flexion contracture, Limited... |
OMIM:121050 |
| Poland Syndrome |
|
Hypoplasia of deltoid muscle, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Sy... |
OMIM:173800 |
| Birk-Landau-Perez Syndrome |
|
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, In... |
OMIM:617595 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Broad thumb, Atresia of the external auditory canal, Umbilical hernia, Low-set, posteriorly rotat... |
ORPHA:1770 |
| Renal Nutcracker Syndrome |
|
Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Increased mean corpuscular volume, Short thumb, Persistence of hemoglobi... |
OMIM:612561 |
| Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Polycystic kidney dysplasia, Patent ductus arteriosus, Abnormality of the ... |
OMIM:606232 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Elevated circulating phytanic acid concentration, Hepatosplenomegaly, Splenomegaly, ... |
OMIM:614866 |
| Atelosteogenesis, Type Ii |
|
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Talipes eq... |
OMIM:256050 |
| Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... |
ORPHA:29072 |
| C Syndrome |
|
Low-set ears, Hip dislocation, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Ulnar de... |
OMIM:211750 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopeptides, Splen... |
OMIM:256550 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypoplastic left heart, Low-set ears, Multicystic kidney dysplasia, Protruding ear, Hypothyroidis... |
OMIM:618829 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Low-set ears, Ventricular hypertrophy, Aortic root aneurysm, Recurrent otitis media, Underdevelop... |
OMIM:620654 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Microcephaly, 2-4 toe syndactyly, Azoospermia, Syndactyly |
OMIM:241000 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria |
ORPHA:79 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Flared metaphysis, Advanced tarsal ossification, Preductal coarctation of the aorta, ... |
OMIM:215045 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextrocardia, Neutropenia, Anemi... |
OMIM:618067 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Total anomalous pulmonary venous return, Recurrent respiratory infections, Dextrocardia |
OMIM:106700 |
| Meckel Syndrome, Type 6 |
|
Postaxial foot polydactyly, Occipital encephalocele, Aplasia of the bladder, Horseshoe kidney, Re... |
OMIM:612284 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Low-set ears, Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascu... |
OMIM:614437 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Low-set ears, Clinodactyly, Bilateral microphthalmos, Hearing impairment, Abnormal heart morpholo... |
ORPHA:369891 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi... |
OMIM:619736 |
| Greig Cephalopolysyndactyly Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Broad thumb, Umbilical hernia, Pre... |
ORPHA:380 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Bilateral microphthalmos, Camptodactyl... |
ORPHA:2839 |
| Thauvin-Robinet-Faivre Syndrome |
|
Bifid ureter, Long hallux, Transient neutropenia, Mitral valve prolapse, Ventricular septal defec... |
OMIM:617107 |
| Desbuquois Syndrome |
|
Small hand, Elbow dislocation, Camptodactyly of finger, Low-set, posteriorly rotated ears, Ventri... |
ORPHA:1425 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Hydrocephalus, Abnormal cardiac septum morphology, Postaxial hand poly... |
ORPHA:83473 |
| Cloacal Exstrophy |
|
Hip dislocation, Hydroureter, Ureterocele, Intestinal duplication, Horseshoe kidney, Myelomeningo... |
ORPHA:93929 |
| Thoracoabdominal Syndrome |
|
Renal agenesis, Anencephaly, Transposition of the great arteries, Hydrocephalus, Ectopia cordis, ... |
OMIM:313850 |
| 3Q29 Microdeletion Syndrome |
|
Low-set ears, Horseshoe kidney, Subvalvular aortic stenosis, Pectus excavatum, Microphthalmia, Cl... |
ORPHA:65286 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Broad hallux, Hearing impairment, Vesicoureteral reflux, At... |
OMIM:614749 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Peripheral pulmonary artery stenosis, Vascular tortuosity, Umbilical hernia, Emphysema, Arachnoda... |
OMIM:219100 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... |
ORPHA:3400 |
| Caudal Regression Syndrome |
|
Abnormal pelvic girdle bone morphology, Renal agenesis, Abnormality of the ureter, Renal insuffic... |
ORPHA:3027 |
| ERI1-related disease |
|
Low-set ears, Conductive hearing impairment, Abnormal heart morphology, Slender metacarpals, Olig... |
OMIM:608739 |
| Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Glomerulonephritis,... |
ORPHA:470 |
| Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Abnormal aortic morphology, Ventricular septal defect, Coarctat... |
ORPHA:1923 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Slender finger, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th fi... |
OMIM:620393 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Renal cyst, Hepatomegaly |
OMIM:614862 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Atelectasis, Retinal arterial tortuosity, Cryptorchidism, Patent foramen ovale, ... |
OMIM:620371 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Hepatomegaly, Renal dy... |
OMIM:614922 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Hearing impairment, Abnormal lung lobation, Low-set, posteriorly ro... |
ORPHA:1052 |
| Caudal Duplication |
|
Abnormal penis morphology, Intestinal duplication, Myelomeningocele, Renal hypoplasia/aplasia, Sp... |
ORPHA:1756 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,... |
OMIM:301110 |
| Cockayne Syndrome Type 1 |
|
Proteinuria, Hepatomegaly, Renal insufficiency, Increased blood urea nitrogen |
ORPHA:90321 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Dilated cardiomyopathy, Sandal gap, Ventricular septal defect |
ORPHA:2515 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Low-set ears, Slender long bone, Bilateral microphthalmos, Camptodactyly of finger, Abnormal hear... |
OMIM:610758 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria, Highly elevated creatine kinase |
ORPHA:352479 |
| De Barsy Syndrome |
|
Low-set ears, Congenital hip dislocation, Prominent veins on trunk, Umbilical hernia, Large earlo... |
ORPHA:2962 |
| Tyrosinosis |
|
Hypertyrosinemia |
OMIM:276800 |
| Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Low-set, posteriorly rotated ears, Encephalocele, Split hand, M... |
ORPHA:2117 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Hypodontia, Delayed eruption of teeth |
ORPHA:1816 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Hearing impairment, Abnormal heart morphology, Ventricular septal defect... |
ORPHA:284169 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Tarp Syndrome |
|
Finger syndactyly, Clinodactyly, Hearing impairment, Extramedullary hematopoiesis, Abnormal antih... |
ORPHA:2886 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... |
ORPHA:90652 |
| Lethal Congenital Contracture Syndrome 11 |
|
Elbow flexion contracture, Intrauterine growth retardation, Flexion contracture of finger, Campto... |
OMIM:617194 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... |
OMIM:130650 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Short distal phalanx of finger, Peripheral pulmonary artery s... |
OMIM:118450 |
| Joubert Syndrome 22 |
|
Renal hypoplasia, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial hand polydactyly, Mic... |
OMIM:615665 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... |
ORPHA:223 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... |
ORPHA:3409 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria |
ORPHA:2774 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Atrial septal defect, Microphthalmia |
ORPHA:261272 |
| Ciliary Dyskinesia, Primary, 17 |
|
Recurrent otitis media, Situs inversus totalis, Dextrocardia, Recurrent respiratory infections, B... |
OMIM:614679 |
| Babesiosis |
|
Hepatomegaly, Renal insufficiency, Splenomegaly |
ORPHA:108 |
| Caroli Disease |
|
Hepatomegaly, Polycystic kidney dysplasia, Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:53035 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu valgum, Limited elbo... |
OMIM:618870 |
| Coffin-Siris Syndrome 4 |
|
Short 5th finger, Hearing impairment, Mitral atresia, Ventricular septal defect, Prominent interp... |
OMIM:614609 |
| Marfan Syndrome |
|
Arterial dissection, Spontaneous pneumothorax, Increased axial length of the globe, Aortic root a... |
ORPHA:558 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Low-set ears, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral stenosis, Renal... |
OMIM:615398 |
| Ring Chromosome 10 Syndrome |
|
Low-set ears, Sandal gap, Large earlobe, Abnormal antihelix morphology, Renal hypoplasia/aplasia,... |
ORPHA:1438 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Vesicoureteral reflux, Nephrolithiasis, Talipes equinovarus, Tapered finger, Hip dys... |
OMIM:617219 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephaloce... |
ORPHA:2211 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Congenital pulmonary airway malformation, Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia,... |
OMIM:243150 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Colitis, Inflammation of the large intestine, Villous atrophy |
OMIM:614700 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Abnormally large globe, Cryptorchidism, Ventricular septal defect, Mic... |
OMIM:618504 |
| Hand-Foot-Genital Syndrome |
|
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Abnormality of... |
ORPHA:2438 |
| Hydrolethalus Syndrome 1 |
|
Low-set ears, Accessory spleen, Abnormal lung lobation, Preaxial hand polydactyly, Upper limb und... |
OMIM:236680 |
| Senior-Loken Syndrome 8 |
|
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... |
OMIM:616307 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:616029 |
| Galloway-Mowat Syndrome 3 |
|
Low-set ears, Stage 5 chronic kidney disease, Proteinuria, Arachnodactyly, Coarctation of aorta, ... |
OMIM:617729 |
| Noonan Syndrome |
|
Dilatation of the renal pelvis, Abnormality of the spleen, Cryptorchidism, Sensorineural hearing ... |
ORPHA:648 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... |
ORPHA:18 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Short ... |
OMIM:102510 |
| Congenital Myopathy 12 |
|
Joint contracture of the hand, Overlapping fingers, Arachnodactyly, Pulmonary artery stenosis, Ca... |
OMIM:612540 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Intrauterine growth retardation, Neonatal death, Lacticaciduria, Elevated urinary 4-hydroxybutyri... |
OMIM:619003 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis |
OMIM:607944 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Low-set ears, Congenital hip dislocation, Absent nipple, Umbilical hernia, Ureteral triplication,... |
OMIM:104350 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Low-set ears, Short femur, Flared metaphysis, Large fleshy ears, Hypertrophic cardiomyopathy, Dec... |
OMIM:616897 |
| Meier-Gorlin Syndrome 7 |
|
Low-set ears, Hearing impairment, Cryptorchidism, Ventricular septal defect, Urethral stricture, ... |
OMIM:617063 |
| Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Recurrent otitis media, Situs inversus totalis, Dextrocardia, Bronchiectasis |
OMIM:611884 |
| Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Villous atrophy, Ileoileal intussusception |
OMIM:619377 |
| Marfan Syndrome |
|
Increased axial length of the globe, Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly,... |
OMIM:154700 |
| Jalili Syndrome |
|
Abnormal dental enamel morphology, Abnormality of dental color, Amelogenesis imperfecta |
ORPHA:1873 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Small hand, Aortic root aneurysm, Large fleshy ears, Urinary bladder wall hypertrophy, Atrial sep... |
ORPHA:280633 |
| Craniofacial Dyssynostosis With Short Stature |
|
Horseshoe kidney, Cryptorchidism, Ventricular septal defect, Hydrocephalus, Abnormal location of ... |
OMIM:218350 |
| Tonne-Kalscheuer Syndrome |
|
Hypospadias, Broad thumb, Velopharyngeal insufficiency, Microcephaly, Brachydactyly, Micropenis, ... |
OMIM:300978 |
| Bardet-Biedl Syndrome 6 |
|
Renal cyst, Hypospadias |
OMIM:605231 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| Urachal Cyst |
|
Hematuria, Pyuria, Dysuria, Urachus fistula |
ORPHA:488 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Microphallus, Ectrodactyly, Small placenta, Intrauterine growth retardation, Po... |
ORPHA:397590 |
| X Small Rings |
|
Toe syndactyly, Aortic root aneurysm, Upper limb undergrowth, Mitral stenosis, Lower limb undergr... |
ORPHA:96201 |
| Noonan Syndrome 9 |
|
Hydroureter, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis |
OMIM:616559 |
| Townes-Brocks Syndrome |
|
Toe syndactyly, Broad thumb, Hearing impairment, Cryptorchidism, Atrial septal defect, Abnormalit... |
ORPHA:857 |
| Relapsing Fever |
|
Hematuria, Acute kidney injury, Abnormality of the urinary system |
ORPHA:91547 |
| Char Syndrome |
|
Toe syndactyly, Hearing impairment, Supernumerary nipple, Mesoaxial foot polydactyly, Mesoaxial h... |
ORPHA:46627 |
| Ruvalcaba Syndrome |
|
Hematuria, Abnormal localization of kidney |
ORPHA:3121 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Ulnar deviation of finger, Camptodactyly of finger, Umbilical hernia, Aniridia, Anophthalmia, Cry... |
ORPHA:1101 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Cryptorchidism, Mitral valve prolapse, Sensorineural hearing impairm... |
OMIM:620305 |
| Gapo Syndrome |
|
Hepatomegaly, Tubulointerstitial fibrosis |
OMIM:230740 |
| Focal Dermal Hypoplasia |
|
Low-set ears, Toe syndactyly, Supernumerary nipple, Anophthalmia, Cryptorchidism, Microphthalmia,... |
OMIM:305600 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal... |
OMIM:616276 |
| Weaver Syndrome |
|
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Low-set, posteriorly rotated... |
ORPHA:3447 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Low-set ears, Abnormal localization of kidney, Abnormal pelvic girdle bone morphology, Finger syn... |
ORPHA:3429 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Proteinuria, Renal hypoplasia, Renal insufficiency |
ORPHA:1307 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... |
OMIM:233450 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Vesi... |
OMIM:619217 |
| Holoprosencephaly 13, X-Linked |
|
Hypoplastic left heart, Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hear... |
OMIM:301043 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Cryptorchidism, Ventricular septal defect, Arachnodactyly,... |
ORPHA:464306 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormal localization of kidney, Abnormal lung lobation, Low-set, posteriorly rotated ears, Umbil... |
ORPHA:2166 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Clinodactyly, Lymphopenia, Vesicoureteral reflux, Patent ductus arteriosus afte... |
OMIM:618460 |
| Smith-Lemli-Opitz Syndrome |
|
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis media, Overlapping... |
OMIM:270400 |
| Histidinemia |
|
Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia |
OMIM:235800 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ... |
ORPHA:166024 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Atresia of the external auditory canal, Auricular tag... |
ORPHA:672 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Low-set ears, Recurrent pneumonia, Single transverse palmar crease, Ventricular septal defect, Hy... |
OMIM:616449 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Multicystic kidney dysplasia, Toe synd... |
ORPHA:2308 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... |
ORPHA:157801 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Absent thumb, Short thumb, Renal agenesis, Hearing impairment, Hors... |
OMIM:227650 |
| Cofs Syndrome |
|
Sensorineural hearing impairment, Hypogonadism, Camptodactyly of finger, Microphthalmia |
ORPHA:1466 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... |
ORPHA:93111 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Internally rotated shoulders, Elbow flexion contracture, Hip contracture, Talipes equinovarus, Sc... |
OMIM:617468 |
| Ciliary Dyskinesia, Primary, 38 |
|
Bronchiectasis, Conductive hearing impairment, Situs inversus totalis, Dextrocardia, Chronic otit... |
OMIM:618063 |
| Cenani-Lenz Syndactyly Syndrome |
|
Metacarpal synostosis, Renal hypoplasia, Broad hallux, Renal agenesis, Radioulnar synostosis, Hyp... |
OMIM:212780 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Low-set ears, Elbow dislocation, Cryptorchi... |
OMIM:210710 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep... |
ORPHA:488627 |
| Malakoplakia |
|
Urinary bladder inflammation, Urinary hesitancy, Hematuria, Proteinuria, Dysuria, Urinary urgency |
ORPHA:556 |
| Warsaw Breakage Syndrome |
|
Cupped ear, Hearing impairment, Tetralogy of Fallot, Single transverse palmar crease, Ventricular... |
OMIM:613398 |
| Genitopatellar Syndrome |
|
Low-set ears, Hypoplastic ilia, Multicystic kidney dysplasia, Hearing impairment, Patellar aplasi... |
ORPHA:85201 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Hyperechogenic kidneys, Anophthalmia, Splenomegaly, Sensorineural hearin... |
OMIM:615636 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Thrombocytopenia, Microphthalmia, Leukemia, Neutropenia |
OMIM:614082 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Renal... |
ORPHA:805 |
| Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Congenital pseudoarthrosis of the clavicle, Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Chromosome 18Q Deletion Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Hearing impairment, Atresia of the external auditory canal... |
OMIM:601808 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Low-set ears, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyop... |
OMIM:617506 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy |
ORPHA:86818 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Low-set ears, Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Talipes equ... |
OMIM:277380 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Absent thumb, Short thumb, Renal agenesis, Hearing impairment, Hors... |
OMIM:600901 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Recurrent otitis media, Asplenia, Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Distal Duplication 5Q |
|
Low-set ears, Absent thumb, Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the ... |
ORPHA:96097 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Low-set, posteriorly rotated ears, Type II diabetes mellitus, Bilater... |
ORPHA:3191 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Low-set ears, Short distal phalanx of finger, Horseshoe kidney, Ventricular septal defect, Renal ... |
OMIM:250410 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Low-set ears, Clinodactyly, Cryptorchidism, Patent foramen ovale, Talipes equinovarus, Transposit... |
OMIM:616789 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... |
OMIM:605289 |
| Cornelia De Lange Syndrome 1 |
|
Low-set ears, Cryptorchidism, Ventricular septal defect, Sensorineural hearing impairment, Disloc... |
OMIM:122470 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Microphthalmia, Camptodactyly, Pectus excavatum, Macrotia |
OMIM:619694 |
| Craniotelencephalic Dysplasia |
|
Low-set, posteriorly rotated ears, Hydrocephalus, Frontal encephalocele, Microphthalmia, Septo-op... |
ORPHA:1528 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to growth hormone st... |
ORPHA:1263 |
| Chromosome 15Q14 Deletion Syndrome |
|
Low-set ears, Recurrent viral upper respiratory tract infections, Ventricular septal defect, Atri... |
OMIM:616898 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Pulmonary ar... |
OMIM:617237 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hyperbilirubinemia |
OMIM:266120 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Pulmonary hypoplasia, Toe syndactyly, Intestinal malrotation, Clinodactyly of the 5th finger, Syn... |
OMIM:601163 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Legionnaires Disease |
|
Hematuria, Proteinuria, Renal insufficiency |
ORPHA:549 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas... |
OMIM:620138 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Proteinuria, Hepatomegaly, Nephrotic syndrome |
ORPHA:330001 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin... |
ORPHA:228305 |
| Pfeiffer Syndrome Type 3 |
|
Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Horseshoe kidney, Intestinal malrotat... |
ORPHA:93260 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Low-set ears, Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Ventricular septal defect, Post... |
OMIM:617895 |
| Warburg Micro Syndrome 1 |
|
Low-set ears, Overlapping toe, Cryptorchidism, Microphthalmia, Macrotia |
OMIM:600118 |
| Robinow Syndrome |
|
Low-set ears, Multicystic kidney dysplasia, Cryptorchidism, Ventricular septal defect, Atrial sep... |
ORPHA:97360 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
ORPHA:436271 |
| Schizophrenia 1 |
|
Renal agenesis, Short proximal phalanx of the 4th toe, Partially duplicated kidney, Protruding ea... |
OMIM:181510 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Atresia of the external auditory canal, Anophthalmia, Cryptorc... |
ORPHA:2052 |
| Pycnodysostosis |
|
Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs... |
OMIM:265800 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... |
OMIM:277400 |
| Carpenter Syndrome 2 |
|
Low-set ears, Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Sen... |
OMIM:614976 |
| Eec Syndrome |
|
Toe syndactyly, Finger syndactyly, Ectrodactyly, Decreased response to growth hormone stimulation... |
ORPHA:1896 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Cutaneous finger syndactyly, Duplication of metatarsal bones, Aplasia/Hypoplasia of toe, Microcep... |
OMIM:600384 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Restrictive cardiomyopathy, Clinodactyly, Patent foramen ovale, Brachydactyly, Osteolysis involvi... |
ORPHA:88630 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Finger syndactyly, 2-5 finger syndactyly, Absent toe, Syndactyly, Stillbirt... |
OMIM:308050 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Uraciluria, Elevated urinary dihydrothymine level, Microphthalmia |
OMIM:274270 |
| Neu-Laxova Syndrome 1 |
|
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Cry... |
OMIM:256520 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Rere-Related Neurodevelopmental Syndrome |
|
Hearing impairment, Abnormal heart morphology, Low-set, posteriorly rotated ears, Vesicoureteral ... |
ORPHA:494344 |
| Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... |
OMIM:259900 |
| Atelosteogenesis Type I |
|
Rhizomelia, Short femur, Talipes equinovarus, Limb undergrowth, Multiple renal cysts, Brachydacty... |
ORPHA:1190 |
| H Syndrome |
|
Hepatosplenomegaly, Abnormality of the kidney, Hypertriglyceridemia, Micropenis, Enlarged kidney |
ORPHA:168569 |
| Cranioectodermal Dysplasia 3 |
|
Peripheral pulmonary artery stenosis, 2-4 toe syndactyly, Nephronophthisis, Rhizomelia, Sandal ga... |
OMIM:614099 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:3405 |
| Helix Syndrome |
|
Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria |
OMIM:617671 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever... |
OMIM:616367 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Clinodactyly, Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral... |
OMIM:602782 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Patent ductus arteriosus, Enlarged kidney, Ovarian cyst |
OMIM:618188 |
| Monosomy 5P |
|
Small hand, Finger syndactyly, Intrauterine growth retardation, Microcephaly, High palate |
ORPHA:281 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Sandal gap, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Coar... |
OMIM:617602 |
| Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Thick vermilion border, Sh... |
ORPHA:137834 |
| 15q26 overgrowth syndrome |
|
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... |
DECIPHER:81 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
| 2Q31.1 Microdeletion Syndrome |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Cryptorchidism, Ventr... |
ORPHA:251014 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Intestinal pseudo-obstruction, I... |
ORPHA:73246 |
| Rhyns Syndrome |
|
Chronic kidney disease, Nephronophthisis, Renal insufficiency |
OMIM:602152 |
| Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia, Camptodactyly of finger |
ORPHA:1759 |
| Enamel-Renal Syndrome |
|
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... |
ORPHA:1031 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Hy... |
OMIM:232240 |
| Complement Factor I Deficiency |
|
Pyelonephritis, Renal insufficiency, Glomerulonephritis, Recurrent urinary tract infections |
OMIM:610984 |
| Poland Syndrome |
|
Small hand, Acute leukemia, Ureterocele, Finger syndactyly, Cryptorchidism, Encephalocele, Renal ... |
ORPHA:2911 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu va... |
ORPHA:261537 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm... |
ORPHA:3427 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Talipes equinovarus, Microphthalmia |
OMIM:616171 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low-set ears, Precocious puberty, Nephrocalcinosis, Restrictive cardiomyopathy, Abnormality of th... |
ORPHA:369837 |
| Microphthalmia, Syndromic 6 |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Hearing impairment, Thumb contracture, Anophthal... |
OMIM:607932 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Simple ear, Bicuspid aorti... |
OMIM:619318 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Low-set ears, Umbilical hernia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal def... |
OMIM:612582 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Low-set ears, Broad distal phalanx of finger, Postaxial foot polydactyly, Abnormal heart morpholo... |
ORPHA:404440 |
| Fanconi Anemia, Complementation Group N |
|
Unilateral renal agenesis, Absent thumb, Short thumb, Aplastic anemia, Horseshoe kidney, Nephrobl... |
OMIM:610832 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis, Genu valgum, Splenomegaly, Ventricular septal defect, B... |
OMIM:615630 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
| Chromosome 2Q35 Duplication Syndrome |
|
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly |
OMIM:185900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Meester-Loeys Syndrome |
|
Pulmonary artery aneurysm, Broad distal phalanx of finger, Aortic root aneurysm, Aortic dissectio... |
OMIM:300989 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... |
OMIM:219800 |
| Yunis-Varon Syndrome |
|
Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Cryptorchidism, Ve... |
ORPHA:3472 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Palmoplantar keratoderma, Macrotia, Syndactyly |
OMIM:613576 |
| Fryns Syndrome |
|
Low-set ears, Joint contracture of the hand, Abnormal helix morphology, Cryptorchidism, Ventricul... |
OMIM:229850 |
| Noonan Syndrome 8 |
|
Low-set ears, Hypertrophic cardiomyopathy, Pleural effusion, Cryptorchidism, Ventricular septal d... |
OMIM:615355 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Fg Syndrome Type 1 |
|
Small pituitary gland, Cupped ear, Finger syndactyly, Clinodactyly of the 2nd finger, Umbilical h... |
ORPHA:93932 |
| Trichohepatoenteric Syndrome 1 |
|
Bifid uvula, Fine hair, Trichorrhexis nodosa, Villous atrophy, Curly hair, Woolly hair, Brittle h... |
OMIM:222470 |
| Bladder Exstrophy |
|
Recurrent urinary tract infections, Umbilical hernia, Abnormality of the ureter, Intestinal malro... |
ORPHA:93930 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron... |
ORPHA:1830 |
| Cardiospondylocarpofacial Syndrome |
|
Low-set ears, Carpal synostosis, Recurrent otitis media, Ventricular septal defect, Enlarged vest... |
OMIM:157800 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Micromelia, Low-set, posteriorly rotated ears, Cryptorchidism, Ventricula... |
ORPHA:2772 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
| Joubert Syndrome 37 |
|
Low-set ears, Decreased testicular size, Cryptorchidism, Hydronephrosis, Postaxial polydactyly, M... |
OMIM:619185 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, High palate, Wide mouth |
OMIM:618825 |
| Acropectorovertebral Dysplasia |
|
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... |
ORPHA:957 |
| Treacher-Collins Syndrome |
|
Conductive hearing impairment, Branchial fistula, Narrow internal auditory canal, Cryptorchidism,... |
ORPHA:861 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hyperammonemia, Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circ... |
OMIM:620300 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Short toe, Cryptorchidism, Posteri... |
ORPHA:464311 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria |
ORPHA:853 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Low-set ears, Annular pancreas, Vesicoureteral reflux, Cryptorchidism, Patent foramen ovale, Vent... |
OMIM:616975 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Low-set ears, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg s... |
OMIM:300244 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... |
ORPHA:96334 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:2715 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula |
OMIM:236700 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Recurrent urinary tract infections, Hype... |
OMIM:619487 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Downturned corners of mouth, Long philtrum, Thick upper lip vermilion,... |
ORPHA:884 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Tubulointerstitial nephritis |
ORPHA:183 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Low-set ears, Toe syndactyly, Short finger, Dilatation of the ventricular cavity, Decreased testi... |
ORPHA:459070 |
| 8Q12 Microduplication Syndrome |
|
Vesicoureteral reflux, Sensorineural hearing impairment, Ventricular septal defect, Atrial septal... |
ORPHA:228399 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria |
OMIM:617021 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ... |
ORPHA:1327 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Abnormality of the wrist, Abnormal thumb morphology, Sensorineural hearing imp... |
ORPHA:1825 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Rhizomelia, Anophthalmia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger synd... |
OMIM:615877 |
| Kury-Isidor Syndrome |
|
Low-set ears, Finger syndactyly, Recurrent otitis media, Ventricular septal defect, Hydronephrosi... |
OMIM:619762 |
| Loeys-Dietz Syndrome 1 |
|
Low-set ears, Aortic root aneurysm, Mitral valve prolapse, Arachnodactyly, Bicuspid aortic valve,... |
OMIM:609192 |
| Majeed Syndrome |
|
Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:77297 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Low-set ears, Recurrent pneumonia, Umbilical hernia, Recurrent otitis media, Ventricular septal d... |
OMIM:617751 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Bone marrow hypocellularity, Absent thumb, Short thumb, Renal agene... |
OMIM:227645 |
| Cohen Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Sandal gap, Abnormal hip bone morphology, ... |
ORPHA:193 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Low-set ears, Rhizomelia, Clinodactyly, Hearing impairment, Abnormal lung lobation, Decreased res... |
OMIM:614114 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Bilateral talipes equinovarus, Secondary microcephaly, Hydrocephalus, Pulmonary hypoplasia |
OMIM:618174 |
| Triploidy |
|
Finger syndactyly, Intestinal malrotation, Intrauterine growth retardation, Hydrocephalus, Mening... |
ORPHA:3376 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Protruding ear, Pulmonary artery stenosis, Hypogonadotropic hypogonadi... |
OMIM:301030 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hyperbilirubinemia, Abnormal serum bile acid concentration, Renal cyst, Hepatomegaly,... |
ORPHA:79303 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Recurrent upper respiratory tract infections, Vesicoureteral reflux, ... |
ORPHA:3078 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hyperalaninemia, Mild proteinuria, Renal insufficiency |
OMIM:619147 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Hypophosphatemic rickets, Proteinuria, Renal Fanconi syndrome, Abnormal circulating f... |
ORPHA:263455 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys... |
ORPHA:411629 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth |
OMIM:619356 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Microcephaly, Han... |
ORPHA:1520 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shorten... |
OMIM:300863 |
| Cardioacrofacial Dysplasia 1 |
|
Atrioventricular canal defect, Genu valgum, Complete atrioventricular canal defect, Postaxial pol... |
OMIM:619142 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency |
OMIM:247410 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism, Microphthalmia |
ORPHA:2528 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Broad thumb, Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect,... |
OMIM:312870 |
| Neuralgic Amyotrophy |
|
Bifid uvula, Syndactyly, Scapular winging, Cleft palate, Upper limb amyotrophy |
ORPHA:2901 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Multicystic kidney dysplasia, Cryptorchidism, Brachydactyly, Abnormal cardiac septu... |
ORPHA:2075 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:300559 |
| Spondylo-Ocular Syndrome |
|
Low-set ears, Abnormal antihelix morphology, Ventricular septal defect, Aplasia/Hypoplasia of the... |
ORPHA:85194 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| 48,Xxyy Syndrome |
|
Broad jaw, Carious teeth, Delayed eruption of teeth, Thick lower lip vermilion, Open bite, Abnorm... |
ORPHA:10 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria |
ORPHA:1018 |
| Caroli Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormality of the kidney, Hepatomegaly, Polyc... |
ORPHA:480520 |
| Ciliary Dyskinesia, Primary, 22 |
|
Recurrent otitis media, Situs inversus totalis, Chronic bronchitis, Recurrent sinusitis, Dextroca... |
OMIM:615444 |
| Immunodeficiency 31C |
|
Protein-losing enteropathy, Villous atrophy, Gastrointestinal eosinophilia, Intussusception |
OMIM:614162 |
| Grange Syndrome |
|
Coronary artery stenosis, Finger clinodactyly, Renal artery stenosis, Bicuspid aortic valve, Caro... |
OMIM:602531 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Abnormal heart morphology, Narrow palm, Holoprosencephaly, Diabetes ins... |
ORPHA:1445 |
| Cockayne Syndrome Type 2 |
|
Male hypogonadism, Hearing impairment, Cryptorchidism, Anophthalmia, Macrotia |
ORPHA:90322 |
| Chromosome 5Q12 Deletion Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Long toe, Atrial septal defect, Long fingers, Ov... |
OMIM:615668 |
| Silver-Russell Syndrome 3 |
|
Low-set ears, Small hand, Unilateral cryptorchidism, Penoscrotal hypospadias, Clinodactyly of the... |
OMIM:616489 |
| Mody |
|
Nephropathy, Glycosuria, Abnormal circulating C-peptide concentration, Renal cyst, Abnormality of... |
ORPHA:552 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Abnormality of the urinary system, Tetralogy of Fallot, Communicating hydrocephalus, Patent ductu... |
ORPHA:2184 |
| Periventricular Nodular Heterotopia 7 |
|
1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Contract... |
OMIM:617201 |
| Leopard Syndrome 1 |
|
Low-set ears, Cryptorchidism, Mitral valve prolapse, Limited elbow movement, Sensorineural hearin... |
OMIM:151100 |
| Osteogenesis Imperfecta, Type Xii |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate |
OMIM:613849 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Ventricular septal defect |
OMIM:614876 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hear... |
OMIM:101200 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Bile duct proliferation, Cone-s... |
OMIM:208500 |
| Trisomy 20P |
|
Finger syndactyly, Umbilical hernia, Preaxial hand polydactyly, Abnormality of the ureter, Campto... |
ORPHA:261318 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Cardiomyopathy, Microphthalmia |
OMIM:613155 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Ovarian serous cystadenoma, Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Refsum Disease |
|
Abnormal epiphysis morphology, Cardiomyopathy, Renal insufficiency, Splenomegaly, Sensorineural h... |
ORPHA:773 |
| Al Amyloidosis |
|
Hypoalbuminemia, Renal insufficiency, Proteinuria, Increased circulating NT-proBNP concentration,... |
ORPHA:85443 |
| Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,... |
ORPHA:139466 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... |
ORPHA:370010 |
| Werner Syndrome |
|
Small hand, Abnormal cerebral vascular morphology, Atherosclerosis, Hypogonadism, Thyroid carcino... |
ORPHA:902 |
| Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Long philtrum, Gingival overgrowth, Open ... |
ORPHA:420561 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Intestinal malrotation, Intrauterine growth retardation, Tibial bowing, Lower limb... |
ORPHA:3035 |
| Ivic Syndrome |
|
Hearing impairment, Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carp... |
OMIM:147750 |
| Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Conductive hearing impairment, Hearing impairment, V... |
OMIM:608572 |
| Transaldolase Deficiency |
|
Low-set ears, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent foramen ovale, Ventricular s... |
OMIM:606003 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral... |
ORPHA:90349 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hearing impairment, Histiocytoid cardiomyopathy, Ventricular septal defect, Single transverse pal... |
OMIM:309801 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Hepatic cysts |
OMIM:613819 |
| Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Micromelia, Absent pulmonary artery, Crumpled long bones, Hydronephrosis, Femoral ret... |
OMIM:610682 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Proteinuria, Renal Fanco... |
OMIM:220110 |
| Malan Syndrome |
|
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... |
OMIM:614753 |
| Hamamy Syndrome |
|
Low-set ears, Hypochromic anemia, Microcytic anemia, Complete atrioventricular canal defect, Cryp... |
OMIM:611174 |
| Orofaciodigital Syndrome V |
|
Low-set ears, Postaxial foot polydactyly, Sandal gap, Hearing impairment, Tetralogy of Fallot, Ho... |
OMIM:174300 |
| Congenital Factor V Deficiency |
|
Hematuria |
ORPHA:326 |
| Acrofacial Dysostosis 1, Nager Type |
|
Low-set ears, Toe syndactyly, Clinodactyly, Atresia of the external auditory canal, Overlapping t... |
OMIM:154400 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth |
OMIM:129550 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612463 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst... |
ORPHA:33001 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Low-set ears, Congenital hip dislocation, Conductive hearing impairment, Subdural hemorrhage, Hea... |
ORPHA:536545 |
| Myhre Syndrome |
|
Aortic valve stenosis, Low-set ears, Clinodactyly, Hearing impairment, Hypoplastic iliac wing, Ov... |
OMIM:139210 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Cardiomyopathy, ... |
ORPHA:445038 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Hepatosplenomegaly, Stage 5 chronic kidney disease, Splenomeg... |
OMIM:615559 |
| Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Anophthalmia, Microphthalmia, Holoprosence... |
OMIM:147250 |
| Microscopic Polyangiitis |
|
Hematuria, Glomerulopathy, Oliguria, Renal insufficiency |
ORPHA:727 |
| Ciliary Dyskinesia, Primary, 2 |
|
Hearing impairment, Situs inversus totalis, Otitis media, Dextrocardia, Recurrent respiratory inf... |
OMIM:606763 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu... |
OMIM:201475 |
| Rubinstein-Taybi Syndrome 2 |
|
Broad thumb, Short 5th toe, Prominent fingertip pads, Broad hallux, Intestinal malrotation, Short... |
OMIM:613684 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Long hallux, Genu va... |
ORPHA:261552 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur... |
ORPHA:335 |
| Cystic Echinococcosis |
|
Pulmonary cyst, Abnormality of the testis size, Abnormal heart morphology, Hepatic cysts, Ovarian... |
ORPHA:400 |
| Simple Cryoglobulinemia |
|
Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Abnormality of the kidne... |
ORPHA:91139 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick vermilion border, High... |
OMIM:614607 |
| Duodenal Atresia |
|
Annular pancreas, Abnormality of the pulmonary artery |
ORPHA:1203 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Multiple bladder diverticula, Hearing impairment, Recurrent otitis media, Cryptorchidism, Protein... |
ORPHA:2728 |
| Ogden Syndrome |
|
Low-set ears, Recurrent otitis media, Cryptorchidism, Ventricular septal defect, Pulmonary edema,... |
OMIM:300855 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Cryptorchidism, Vent... |
ORPHA:818 |
| Hajdu-Cheney Syndrome |
|
Low-set ears, Foot acroosteolysis, Conductive hearing impairment, Umbilical hernia, Large earlobe... |
OMIM:102500 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... |
ORPHA:166119 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Broad hallux, Postaxial polydactyly, Hydrocephalus, Hip dysplasia, Cli... |
ORPHA:457284 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Pancytopenia, Splenomega... |
OMIM:614576 |
| Renpenning Syndrome 1 |
|
Renal hypoplasia, Joint contracture of the hand, Cupped ear, Synostosis of the proximal phalanx o... |
OMIM:309500 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi... |
ORPHA:47159 |
| Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Micromelia, Intrauterine growth retardation, Abnormal sacroiliac joint... |
ORPHA:2655 |
| Systemic Capillary Leak Syndrome |
|
Abnormal renal tubule morphology, Renal insufficiency, Oliguria |
ORPHA:188 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Low-set ears, Clinodactyly of the 5th finger, Posteriorly rotated ears, Ventricular septal defect |
OMIM:314320 |
| Atelis Syndrome 1 |
|
Leukopenia, Glue ear, Ventricular septal defect, Hypothyroidism, Atrial septal defect, Thrombocyt... |
OMIM:620184 |
| Monosomy 18P |
|
Abnormal antihelix morphology, Protruding ear, Hypothyroidism, Brachydactyly, Microphthalmia, Pec... |
ORPHA:1598 |
| Holoprosencephaly 14 |
|
Low-set ears, Alobar holoprosencephaly, Ventricular septal defect, Double outlet right ventricle,... |
OMIM:619895 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Overfolded helix, Single transverse palmar crease, Ventricular septal defect, 2-3 toe... |
OMIM:617061 |
| Orofaciodigital Syndrome I |
|
Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:311200 |
| Chromosome 9P Deletion Syndrome |
|
Low-set ears, Prominent antihelix, Sandal gap, Dermatoglyphic variants, Ventricular septal defect... |
OMIM:158170 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Vasculitis, Abnormal eosinophil morphology, Acute leukemia, Recurrent respiratory in... |
ORPHA:906 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria |
ORPHA:35909 |
| Tetraamelia Syndrome 2 |
|
Low-set ears, Absent nipple, Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulm... |
OMIM:618021 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sensorineural hearing impairment, Stroke, Ventricular septal defect, Megaloblastic anemia, Atrial... |
ORPHA:49827 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Low-set, posteriorly rotated ears, Protruding ear, Renal cyst, Clin... |
ORPHA:2031 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal dental enamel morphology, Narrow mouth, Advanced eruption of ... |
ORPHA:1133 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Low-set ears, Abnormally large globe, Pancreatic lymphangiectasis, Hepatosplenomegaly, Cryptorchi... |
ORPHA:1655 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome |
OMIM:161200 |
| Noonan Syndrome 10 |
|
Low-set ears, Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve prolap... |
OMIM:616564 |
| Phace Syndrome |
|
Ectopic thyroid, Aortic root aneurysm, Tetralogy of Fallot, Abnormal heart morphology, Abnormal c... |
ORPHA:42775 |
| Koolen-De Vries Syndrome |
|
Slender finger, Hip dislocation, Aortic root aneurysm, Prominent fingertip pads, Recurrent urinar... |
OMIM:610443 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypoplasia of penis, Renal hypoplasia, Renal insufficiency, Renal dysplasia |
ORPHA:85321 |
| Filippi Syndrome |
|
2-4 toe syndactyly, Finger clinodactyly, Cryptorchidism, Single transverse palmar crease, Ventric... |
OMIM:272440 |
| Laron Syndrome |
|
Tooth agenesis, Micrognathia, Delayed eruption of teeth, Microdontia |
ORPHA:633 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Fabry Disease |
|
Lipiduria, Renal insufficiency, Proteinuria, Left ventricular hypertrophy, Urinary mulberry cells |
OMIM:301500 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Ventricular septal defect, Radioulnar synostosis, Absent radius, Ectopic... |
OMIM:192350 |
| Osteopathia Striata With Cranial Sclerosis |
|
Low-set ears, Multicystic kidney dysplasia, Joint contracture of the hand, Fibular aplasia, Ventr... |
OMIM:300373 |
| Alkuraya-Kucinskas Syndrome |
|
Low-set ears, Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Pleural effusio... |
OMIM:617822 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Protruding ear... |
ORPHA:2251 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Recurrent pneumonia, Joint contracture of the hand, Elbow flexion contracture, Cryptorchidism, Se... |
OMIM:214150 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Low-set ears, Broad thumb, Toe syndactyly, Hearing impairment, Aplasia/Hypoplasia of the external... |
ORPHA:505237 |
| Doors Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Aspiration pneumonia, Adrenal hyperplasia, ... |
ORPHA:79500 |
| Microphthalmia, Syndromic 1 |
|
Low-set ears, Joint contracture of the hand, Clinodactyly, Hearing impairment, Recurrent otitis m... |
OMIM:309800 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Abnormal heart mor... |
OMIM:614954 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Acrofrontofacionasal Dysostosis 2 |
|
Broad thumb, Broad hallux, Microcephaly, Hand polydactyly, High palate, Hypospadias, Wide anterio... |
OMIM:239710 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Conductive hearing impairment, Abnormal heart morphology, Abnormal ... |
ORPHA:261197 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Low-set ears, Broad thumb, Hyperextensibility of the finger joints, Ventricular septal defect, Ar... |
OMIM:309520 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... |
OMIM:617641 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Atrial Septal Defect, Ostium Primum Type |
|
Clubbing of toes, Pulmonary artery dilatation, Left atrial enlargement, Left ventricular hypertro... |
ORPHA:99106 |
| Kleefstra Syndrome 1 |
|
Hearing impairment, Conotruncal defect, Cryptorchidism, Single transverse palmar crease, Talipes ... |
OMIM:610253 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Dental crowding, Delayed eruption of teeth, Long philtrum, Broad philtrum, Thick vermilion border... |
OMIM:616354 |
| Baller-Gerold Syndrome |
|
Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Abnormality of the uret... |
ORPHA:1225 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Cupped ear, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormal cardiac septum morp... |
ORPHA:1352 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Delayed eruption of teeth |
OMIM:614450 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Low-set ears, Broad thumb, Hearing impairment, Overlapping toe, Cryptorchidism, Ventricular septa... |
OMIM:617452 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Low-set ears, Aplastic clavicle, Micromelia, Preaxial polydactyly, Occipital meningocele, Anencep... |
OMIM:616546 |
| Hardikar Syndrome |
|
Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, Impaired growth-hormone response to... |
OMIM:301068 |
| Opitz-Kaveggia Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Anal atresia, Hypospadias, Syndactyly, ... |
OMIM:305450 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Low-set ears, Abnormal heart morphology, Overlapping toe, Protruding ear, Microphthalmia, Pectus ... |
OMIM:618571 |
| Familial Isolated Hypoparathyroidism |
|
Abnormal dental enamel morphology, Delayed eruption of teeth |
ORPHA:2238 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Steatorrhea, Villous atrophy |
OMIM:212065 |
| Trisomy 18 |
|
Deviation of finger, Camptodactyly of finger, Low-set, posteriorly rotated ears, Abnormal hip bon... |
ORPHA:3380 |
| Lymphatic Filariasis |
|
Urethral obstruction, Hematuria, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Neph... |
ORPHA:2035 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Unilateral radial aplasia, Partial absence of thumb, Complete atrioventricular canal defect, 2-3 ... |
ORPHA:476126 |
| Chops Syndrome |
|
Hearing impairment, Aspiration pneumonia, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism... |
OMIM:616368 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Proboscis Lateralis |
|
Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, Anophthalmia, Ventricu... |
ORPHA:141099 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Low-set ears, Stapes ankylosis, Tetralogy of Fallot, Single transverse palmar crease, 2-3 toe syn... |
OMIM:614701 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Odontochondrodysplasia |
|
Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia |
ORPHA:166272 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Hyperinsu... |
ORPHA:79474 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Low-set ears, Internally rotated shoulders, Recurrent otitis media, Hepatosplenomegaly, Cryptorch... |
OMIM:619503 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
| Jacobsen Syndrome |
|
Low-set ears, Holoprosencephaly, Annular pancreas, Cryptorchidism, Ventricular septal defect, Mac... |
OMIM:147791 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperammonemia, Hepatome... |
OMIM:251000 |
| Cerebrooculonasal Syndrome |
|
Low-set ears, Conductive hearing impairment, Anophthalmia, Encephalocele, Postaxial polydactyly, ... |
OMIM:605627 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ... |
OMIM:614262 |
| Wiedemann-Rautenstrauch Syndrome |
|
Low-set ears, Clinodactyly, Prominent scalp veins, Cryptorchidism, Talipes equinovarus, Large han... |
OMIM:264090 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Single transverse palmar crease, Microp... |
OMIM:619053 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Finger syndactyly, Hearing impairment, Camptodactyly of finger, Abnormal shoulder mo... |
ORPHA:568 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion |
OMIM:619797 |
| Kawasaki Disease |
|
Vasculitis, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal de... |
ORPHA:2331 |
| Tetrasomy 9P |
|
Hypoplastic scapulae, Small hand, Abnormal earlobe morphology, Glue ear, Bilateral single transve... |
ORPHA:3310 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Low-set ears, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypop... |
ORPHA:163966 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... |
ORPHA:89938 |
| Craniolenticulosutural Dysplasia |
|
Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M... |
ORPHA:50814 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... |
ORPHA:93322 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Cryptorchidism, Microphthalmia, Micropenis, Optic nerv... |
OMIM:610125 |
| Limb Body Wall Complex |
|
Broad hallux, Abnormal heart morphology, Aplasia of the proximal phalanges of the hand, Cutaneous... |
ORPHA:2369 |
| Omodysplasia 1 |
|
Rhizomelia, Short tibia, Limited elbow flexion, Umbilical hernia, Limited elbow extension, Crypto... |
OMIM:258315 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Abnormal lung lobation, Aplasia/Hypoplasia involving the pelvis, Cr... |
ORPHA:3301 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Precocious puberty, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Bro... |
OMIM:620073 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... |
ORPHA:3103 |
| Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
| Distal Deletion 12Q |
|
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Larg... |
ORPHA:96149 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Low-set ears, Clinodactyly, Large fleshy ears, Overfolded helix, Arachnodactyly, Pectus excavatum... |
OMIM:619092 |
| Kagami-Ogata Syndrome |
|
Splenomegaly, Ventricular septal defect, Coxa valga, Limb undergrowth, Atrial septal defect, Long... |
OMIM:608149 |
| Constricting Bands, Congenital |
|
Abnormal lung lobation, Encephalocele, Talipes equinovarus, Hand polydactyly, Ectopia cordis, Bla... |
OMIM:217100 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Umbilical he... |
OMIM:130720 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... |
ORPHA:1892 |
| Renal Hypodysplasia/Aplasia 4 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:265430 |
| Holoprosencephaly 9 |
|
Anterior pituitary agenesis, Alobar holoprosencephaly, Prominent antihelix, Decreased response to... |
OMIM:610829 |
| Ververi-Brady Syndrome |
|
Low-set ears, Cupped ear, Transposition of the great arteries, Clinodactyly of the 5th finger, Me... |
OMIM:617982 |
| Cranioectodermal Dysplasia 2 |
|
Low-set ears, Recurrent pneumonia, Rhizomelia, Clinodactyly, Polysplenia, Renal insufficiency, Sp... |
OMIM:613610 |
| White Forelock With Malformations |
|
Finger syndactyly, Low-set, posteriorly rotated ears, Spina bifida occulta, Atrial septal defect,... |
ORPHA:2475 |
| Adams-Oliver Syndrome 2 |
|
Low-set ears, Absent distal phalanges, Single transverse palmar crease, Protruding ear, Hydroceph... |
OMIM:614219 |
| Codas Syndrome |
|
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Crumpled ear, Hydroureter, Ab... |
ORPHA:1458 |
| Braddock-Carey Syndrome 2 |
|
Atresia of the external auditory canal, Clinodactyly, Hearing impairment, Thrombocytopenia, Micro... |
OMIM:619981 |
| Renal Hypodysplasia/Aplasia 2 |
|
Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:615721 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Clinodactyly, Cardiomyopathy, Proximal placement of thumb, Cryptorchidism, Abnormal pinna morphol... |
OMIM:217980 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Microcephaly, Spina bifida, Spina bifida... |
ORPHA:64754 |
| Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development |
|
Talipes equinovarus, Atresia of the external auditory canal, Ventricular septal defect |
OMIM:209770 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Spina bifida... |
ORPHA:2476 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... |
ORPHA:2614 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Low-set ears, Epiphyseal stippling, Sensorineural hearing impairment, Hydronephrosis, Talipes equ... |
ORPHA:35173 |
| Hemophilia B |
|
Hematuria |
OMIM:306900 |
| Donnai-Barrow Syndrome |
|
Proteinuria |
ORPHA:2143 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Umbilical hernia, Camptodactyly of finger, Intrauterine growth retardation, Ab... |
ORPHA:2990 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency |
OMIM:615986 |
| Santos Syndrome |
|
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... |
OMIM:613005 |
| Jansen-De Vries Syndrome |
|
Low-set ears, Small hand, Ventricular septal defect, Bicuspid aortic valve, Brachydactyly, Short ... |
OMIM:617450 |
| Microcephaly-Capillary Malformation Syndrome |
|
Low-set ears, Short distal phalanx of finger, Clinodactyly, Hearing impairment, Vesicoureteral re... |
OMIM:614261 |
| Congenital Myopathy 17 |
|
Hand clenching, Renal hypoplasia, Clinodactyly, Overlapping toe, Overlapping fingers, Ureteropelv... |
OMIM:618975 |
| Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
| Acrorenal-Mandibular Syndrome |
|
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder |
OMIM:200980 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Dilated cardiomyopathy, Hearing impairment, Abnormal earlobe morpholog... |
ORPHA:2556 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Elevated circulating creatinine concentration |
OMIM:608104 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Recurrent aspiration pneumonia, Cleft palate, Syndactyly |
OMIM:300484 |
| 3Q29 Microduplication Syndrome |
|
Low-set ears, Toe syndactyly, Sandal gap, Hearing impairment, Aniridia, Ventricular septal defect... |
ORPHA:251038 |
| Aarskog-Scott Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum... |
ORPHA:915 |
| Autosomal Dominant Cutis Laxa |
|
Low-set ears, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Hip... |
ORPHA:90348 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Hearing impairme... |
ORPHA:217346 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Low-set ears, Abnormal helix morphology, Hearing impairment, Cryptorchidism, Ventricular septal d... |
OMIM:214100 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hypoplastic ilia, Micromelia, Clubbing of fingers, Broad long bones, Bowing of the legs, Encephal... |
ORPHA:1865 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Giant platelets, Upper limb undergrowth, Recurrent otitis media, Short 5th ... |
OMIM:169400 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
| 2P15P16.1 Microdeletion Syndrome |
|
Toe clinodactyly, Low-set ears, Multicystic kidney dysplasia, Sandal gap, Hearing impairment, Cam... |
ORPHA:261349 |
| Insulin-Like Growth Factor I, Resistance To |
|
Low-set ears, Small hand, Clinodactyly, Sandal gap, Short finger, Radial deviation of finger, Rie... |
OMIM:270450 |
| Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... |
ORPHA:2842 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
| Split-Hand/Foot Malformation 6 |
|
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot |
OMIM:225300 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio... |
OMIM:257850 |
| Coffin-Siris Syndrome 3 |
|
Long philtrum, Delayed eruption of permanent teeth, Thick vermilion border, Macroglossia, High pa... |
OMIM:614608 |
| Diamond-Blackfan Anemia 10 |
|
Low-set ears, Conductive hearing impairment, Hearing impairment, Atresia of the external auditory... |
OMIM:613309 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Arte... |
ORPHA:1556 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Elevated circulating creatinine concentration, Glomerular sclerosis, Proteinuria |
ORPHA:247691 |
| Williams Syndrome |
|
Genu valgum, Type II diabetes mellitus, Cryptorchidism, Mitral valve prolapse, Ventricular septal... |
ORPHA:904 |
| 19P13.12 Microdeletion Syndrome |
|
Toe clinodactyly, Low-set ears, Precocious puberty, Conductive hearing impairment, Finger syndact... |
ORPHA:254346 |
| Teebi Hypertelorism Syndrome 1 |
|
Small hand, Aortic root aneurysm, Ventricular septal defect, Atrial septal defect, Broad palm, Hy... |
OMIM:145420 |
| 4H Leukodystrophy |
|
Hypodontia, Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:289494 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomeg... |
OMIM:252500 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration |
OMIM:619685 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
| Lissencephaly 8 |
|
Talipes equinovarus, Occipital encephalocele, Microphthalmia |
OMIM:617255 |
| Ddost-Cdg |
|
Nephrotic range proteinuria |
ORPHA:300536 |
| Coffin-Siris Syndrome 7 |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Patent foramen ovale, Ventricular septa... |
OMIM:618027 |
| Ring Chromosome 12 Syndrome |
|
Low-set ears, Symphalangism of the thumb, Secundum atrial septal defect, Clinodactyly, Glandular ... |
ORPHA:1439 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Pulmon... |
ORPHA:199241 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal cerebral vascular morphology, Dilatation of the cerebral artery, ... |
ORPHA:363705 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... |
OMIM:242900 |
| Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171300 |
| Joubert Syndrome 2 |
|
Low-set ears, Nephronophthisis, Postaxial foot polydactyly, Renal insufficiency, Encephalocele, R... |
OMIM:608091 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Abnormal helix morp... |
ORPHA:373 |
| Histiocytoid Cardiomyopathy |
|
Stroke-like episode, Congenital aphakia, Ventricular septal defect, Pulmonary edema, Renal cyst, ... |
ORPHA:137675 |
| Noonan Syndrome 4 |
|
Low-set ears, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Hydronephro... |
OMIM:610733 |
| Diamond-Blackfan Anemia |
|
Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Ventricular septa... |
ORPHA:124 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Encephalocele, Transposition of the great arteries, Atrial septal defect,... |
OMIM:253800 |
| Atelosteogenesis Type Ii |
|
Elbow dislocation, Genu valgum, Bilateral cleft palate, Broad phalanx, Bilateral talipes equinova... |
ORPHA:56304 |
| Stormorken Syndrome |
|
Hematuria |
OMIM:185070 |
| Chronic Mucocutaneous Candidiasis |
|
Hematuria, Recurrent urinary tract infections |
ORPHA:1334 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit, Transudative pleural effusion, Abnormality of the pulmonary v... |
ORPHA:284227 |
| Bartsocas-Papas Syndrome 2 |
|
Low-set ears, Small hand, Absent distal phalanges, 2-5 finger cutaneous syndactyly, Microphthalmi... |
OMIM:619339 |
| Penile Agenesis |
|
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B... |
ORPHA:49 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Urinary incontinence, Microcephaly, Syndactyly |
OMIM:615284 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic valve stenosis, Hearing impairment, Tetralogy of Fallot, Vesicoureteral reflux, Conotrunca... |
ORPHA:96147 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hearing im... |
OMIM:616277 |
| Sweeney-Cox Syndrome |
|
Low-set ears, Short distal phalanx of finger, Crumpled ear, Cupped ear, Hearing impairment, Bilat... |
OMIM:617746 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Cryptorchidism, Sensorineural hearing impairment, Abnormality of the k... |
ORPHA:1606 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Umbilical hernia, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Sensori... |
OMIM:612938 |
| Craniometadiaphyseal Dysplasia |
|
Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Malar flattening, Microdon... |
OMIM:269300 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Hematuria, Proteinuria |
ORPHA:1855 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... |
ORPHA:116 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Low-set ears, Peripheral pulmonary artery stenosis, Recurrent otitis media, Renal tubular acidosi... |
OMIM:619575 |
| Pericardial And Diaphragmatic Defect |
|
Tetralogy of Fallot, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Mit... |
ORPHA:2847 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Atr... |
ORPHA:457193 |
| Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia, He... |
ORPHA:469 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Fifth finger distal phalanx clinodactyly, Low-set, posteriorly rotated ears, Ventricular septal d... |
ORPHA:3369 |
| Dermatitis Herpetiformis |
|
Dental enamel pits, Erosion of oral mucosa, Delayed eruption of teeth |
ORPHA:1656 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Low-set ears, Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenome... |
OMIM:266920 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Smith-Magenis Syndrome |
|
Gastroesophageal reflux, Toe syndactyly, Abnormality of the ureter, Renal hypoplasia/aplasia, Mic... |
ORPHA:819 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
| Brachydactyly Type B |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... |
ORPHA:93383 |
| Cenani-Lenz Syndrome |
|
High, narrow palate, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, ... |
ORPHA:3258 |
| Congenital Varicella Syndrome |
|
Micromelia, Microphthalmia |
ORPHA:291 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Slender finger, Hemiatrophy of upper limb, Oligosacchariduria, Abnormal femoral neck/head morphol... |
ORPHA:163649 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Brachydactyly, Atrial septal defect, Microphthalmia |
OMIM:614526 |
| Branchiooculofacial Syndrome |
|
Low-set ears, Hearing impairment, Supernumerary nipple, Ectopic thymus tissue, Anophthalmia, Cryp... |
OMIM:113620 |
| Cherubism |
|
Dental malocclusion, Multiple impacted teeth, Alveolar ridge overgrowth, Oligodontia, Jaw swellin... |
OMIM:118400 |
| Sclerosteosis |
|
Finger syndactyly, Curved distal phalanges of the hand, Sensorineural hearing impairment, 2-3 fin... |
ORPHA:3152 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Flexion contracture of toe, Hypogonadotropic hypogonadism, Finger joint contracture, Microphthalmia |
ORPHA:48431 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Metaphyseal cupping, Hypoplastic scapulae, Micromelia, Hypoplasia... |
ORPHA:85166 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Low-set, posteriorly ... |
ORPHA:2994 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Aniridia, Brachydactyly, Hydrocephalus, Microphthalmia, Mic... |
OMIM:602361 |
| Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, H... |
OMIM:607361 |
| Microcephaly-Micromelia Syndrome |
|
Low-set ears, Absent thumb, Short tibia, Micromelia, Absent radius, Oligodactyly, Humeroradial sy... |
OMIM:251230 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... |
ORPHA:340 |
| Woods Syndrome |
|
Supernumerary nipple, Limited elbow extension, Single transverse palmar crease, Ventricular septa... |
OMIM:615236 |
| Blepharocheilodontic Syndrome 1 |
|
Anal atresia, Cutaneous syndactyly, Clinodactyly, Neural tube defect |
OMIM:119580 |
| Degcags Syndrome |
|
Chronic kidney disease, Low-set ears, Toe syndactyly, Hearing impairment, Hepatosplenomegaly, Gen... |
OMIM:619488 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia |
OMIM:600251 |
| Charlie M Syndrome |
|
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly... |
ORPHA:1406 |
| Lambotte Syndrome |
|
Semilobar holoprosencephaly, Atresia of the external auditory canal, Preaxial foot polydactyly, V... |
OMIM:245552 |
| Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Low-set ears, Multicystic kidney dysplasia, Leukemia, Cryptorchidism, Nephroblastoma, Renal cyst,... |
OMIM:257300 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Microphthalmia |
ORPHA:324416 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Bladder polyp, Gastrointestinal carcinoma, Clubbing of fingers, Abnormality ... |
OMIM:175200 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Short 5th finger, Small hand, Toe syndactyly, Hydroureter, Hearing impairment, Cryptorchidism, Si... |
OMIM:610759 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:94066 |
| Seckel Syndrome 2 |
|
Hypospadias, Clinodactyly of the 5th finger, Ectopic kidney, Microphthalmia |
OMIM:606744 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chylothorax, Pleural effusion, Anophthalmia, Protruding ear, Atrial septal defect, Microphthalmia... |
ORPHA:2526 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... |
ORPHA:210122 |
| Microphthalmia, Syndromic 13 |
|
Anteverted ears, Microphthalmia |
OMIM:300915 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst |
OMIM:617100 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Bowing of the long bones, Multiple re... |
ORPHA:1318 |
| Sickle Cell Disease |
|
Hematuria, Renal insufficiency |
OMIM:603903 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Hydranencephaly, Conductive hearing impairment, Atresia of the exte... |
ORPHA:1393 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Low-set ears, Hearing impairment, Reduced renal cor... |
OMIM:208085 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... |
OMIM:610713 |
| Alg9-Cdg |
|
Bifid uvula, Gastroesophageal reflux, Hypertrichosis, Villous atrophy, Low posterior hairline, Hy... |
ORPHA:79328 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif... |
OMIM:137940 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Low-set ears, Recurrent pneumonia, Cupped ear, Bilateral cryptorchidism, Lop ear, Ventricular sep... |
OMIM:300472 |
| Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Absent thumb, Radial dysplasia, Hydrocephalus, Microphthalmia, Anemi... |
OMIM:617244 |
| Amme Complex |
|
Hematuria |
OMIM:300194 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Low-set ears, Foot oligodactyly, Anterior encephalocele, Ventricular septal defect, Holoprosencep... |
OMIM:601357 |
| Atelis Syndrome 2 |
|
Low-set ears, Clinodactyly, Elevated circulating thyroid-stimulating hormone concentration, Hyper... |
OMIM:620185 |
| Proximal Symphalangism |
|
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... |
ORPHA:3250 |
| Joubert Syndrome With Ocular Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Hand polydactyly, Hydrocephalus, Dextrocardia, ... |
ORPHA:220493 |
| Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Atrioventricular canal defect, Short first metatarsal, Epiphyseal stippling... |
OMIM:619135 |
| Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Congenital shortened small intestine, Intestinal pseudo-obstruction, Pylo... |
OMIM:300048 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarg... |
ORPHA:508 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia |
OMIM:263520 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Persistence of hemoglobin F, U... |
OMIM:619769 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Aplasia/Hypoplasia of the tongue, Abnormal lung lobation... |
ORPHA:958 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pulmonary hypoplasia, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Ventricular septal ... |
OMIM:615503 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Low-set ears, Decreased circulating parathyroid hormone level, Small hand, Decreased response to ... |
OMIM:241410 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Low-set ears, Accessory spleen, Renal hypoplasia, Small hand, Severe B lymphocytopenia, Lymphopen... |
OMIM:620005 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Elevated amniotic fluid alpha-fetoprotein, Renal insufficiency, Chordee, Hypospadias, Renal dyspl... |
ORPHA:96179 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Synophrys |
OMIM:618154 |
| Lambert Syndrome |
|
Branchial anomaly, Hypospadias, Ventricular septal defect |
ORPHA:1296 |
| Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Renal cyst, Hyperoxaluria |
OMIM:601539 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Short distal phalanx of finger, Anal stenosis, Gastroesophageal reflux, Abnormal ilium morphology... |
OMIM:614080 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
| Alzahrani-Kuwahara Syndrome |
|
Low-set ears, Coronary sinus enlargement, Hearing impairment, Patent foramen ovale, Ventricular s... |
OMIM:619268 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Hearing impairment, Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger... |
OMIM:619451 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Abnor... |
ORPHA:71212 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Myogl... |
OMIM:251900 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, High palate |
OMIM:612350 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo... |
OMIM:157980 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Recurrent otitis media, Dextrotransposition of the great arteries, Brachydactyly, Ventricular sep... |
OMIM:619995 |
| Immunoglobulin A Vasculitis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:761 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Short thumb, Ventricular septal defect, Brachydactyly, Pulmonic stenosis |
ORPHA:3449 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Thick ... |
ORPHA:2107 |
| Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Macroscopic hematuria |
ORPHA:274 |
| Roberts-Sc Phocomelia Syndrome |
|
Low-set ears, Clinodactyly, Cryptorchidism, Ventricular septal defect, Abnormal metacarpal morpho... |
OMIM:268300 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Low-set ears, Pancreatic lymphangiectasis, Cryptorchidism, Splenomegaly, Ventricular septal defec... |
OMIM:235255 |
| Mowat-Wilson Syndrome |
|
Cupped ear, Supernumerary nipple, Abnormal heart morphology, Recurrent otitis media, Large earlob... |
OMIM:235730 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Low-set ears, Hearing impairment, Biventricular hypertrophy, Recurrent otitis media, Cryptorchidi... |
OMIM:616462 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Sensorineural hearing impa... |
ORPHA:3224 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... |
ORPHA:2788 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Microspherophakia, Broad phalanges of the hand, Short finger, Elbow flexio... |
OMIM:608328 |
| Bohring-Opitz Syndrome |
|
Gastroesophageal reflux, Short toe, Dislocated radial head, Intestinal malrotation, Overlapping t... |
OMIM:605039 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular dysfunction, Hematuria, Decreased urine output, Renal tubular ... |
ORPHA:31826 |
| Porphyria Variegata |
|
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... |
ORPHA:79473 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ... |
OMIM:268310 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Micromelia, Neonatal death, Bowing of the long bones, Talipes equinovaru... |
OMIM:224410 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Polysyndactyly of hallux, Preaxial foot polydactyly, Ventricular septal defect |
OMIM:235750 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Myoglobinuria, Hyperammonemia, Elevated circula... |
OMIM:609015 |
| Cerebrocostomandibular Syndrome |
|
Low-set ears, Congenital hip dislocation, Conductive hearing impairment, Horseshoe kidney, Elbow ... |
OMIM:117650 |
| Chromosome 13Q14 Deletion Syndrome |
|
Low-set ears, Hearing impairment, Supernumerary nipple, Umbilical hernia, Overlapping toe, Crypto... |
OMIM:613884 |
| Omenn Syndrome |
|
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombo... |
OMIM:603554 |
| Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia |
ORPHA:280062 |
| Moderate Hemophilia A |
|
Hematuria |
ORPHA:169805 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
| Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
| Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormal helix morphology, Abnormality of the ureter, Overlapping toe, Overlapping ... |
ORPHA:798 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... |
ORPHA:2973 |
| Steinfeld Syndrome |
|
Hearing impairment, Unilateral renal dysplasia, Abnormal heart morphology, Absent gallbladder, Ap... |
OMIM:184705 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo... |
ORPHA:1452 |
| Larsen Syndrome |
|
Conductive hearing impairment, Elbow dislocation, Hearing impairment, Accessory carpal bones, Cry... |
OMIM:150250 |
| Frontorhiny |
|
Cranium bifidum occultum, Finger clinodactyly, Camptodactyly of finger, Low-set, posteriorly rota... |
ORPHA:391474 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithiasis, Hyp... |
OMIM:300661 |
| Sotos Syndrome |
|
Low-set ears, Long metacarpals, Conductive hearing impairment, Muscular ventricular septal defect... |
OMIM:117550 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Tooth agenesis, Micrognathia, Abnormal palate morphology, Multiple unerupted teeth, Crowded maxil... |
ORPHA:2063 |
| Specc1L-Related Hypertelorism Syndrome |
|
Low-set ears, Abnormal helix morphology, Finger syndactyly, Short toe, Umbilical hernia, Tetralog... |
ORPHA:1519 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Hearing impairment, Abnormal pulmonary valve morphology, Otitis me... |
ORPHA:667 |
| Lymphangioleiomyomatosis |
|
Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmonary lymphangiomyomatosis, Abno... |
ORPHA:538 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Transposition of the great arteri... |
ORPHA:1780 |
| Brachydactyly Type B2 |
|
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... |
ORPHA:140908 |
| Isolated Klippel-Feil Syndrome |
|
Hearing impairment, Abnormal shoulder morphology, Renal hypoplasia/aplasia, Ventricular septal de... |
ORPHA:2345 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Upper limb undergrowth, Pulmonary hypoplasia |
OMIM:613124 |
| Aase-Smith Syndrome I |
|
Slender finger, Ventricular septal defect, Talipes equinovarus, Hydrocephalus, Abnormal pinna mor... |
OMIM:147800 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Alopecia, Nail ... |
OMIM:175500 |
| Acute Promyelocytic Leukemia |
|
Hematuria |
ORPHA:520 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Conductive hearing impairment, Finger clinodactyly, Camptodactyly of fi... |
ORPHA:306542 |
| Knobloch Syndrome |
|
Occipital encephalocele, Bifid ureter, Vesicoureteral reflux, Hydrocephalus, Dextrocardia, Lympha... |
ORPHA:1571 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Hydrocephalus, Microphthalmia |
OMIM:613153 |
| 19P13.3 Microduplication Syndrome |
|
Low-set ears, Precocious puberty, Clinodactyly, Ventricular septal defect, Long fingers, Hip dysp... |
ORPHA:447980 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Elevated circulating C-react... |
ORPHA:457077 |
| Acute Intermittent Porphyria |
|
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem... |
ORPHA:79276 |
| Beaulieu-Boycott-Innes Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Horseshoe kidney, Ventricular sept... |
OMIM:613680 |
| Castleman Disease |
|
Hematuria, Ureteral obstruction, Renal insufficiency |
ORPHA:160 |
| Familial Visceral Myopathy |
|
Hydroureter, Megacystis, Umbilical hernia, Camptodactyly of finger, Vesicoureteral reflux, Arachn... |
ORPHA:2604 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ... |
OMIM:614748 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Exstrophy-Epispadias Complex |
|
Abnormality of the ureter, Abnormality of the kidney, Urinary incontinence, Anal atresia, Renal d... |
ORPHA:322 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease |
OMIM:618821 |
| Short Stature And Facioauriculothoracic Malformations |
|
Low-set ears, Cupped ear, Overfolded helix, Ventricular septal defect, Pectus excavatum, Microtia |
OMIM:609654 |
| Cardiofacioneurodevelopmental Syndrome |
|
Abdominal situs inversus, Atrioventricular canal defect, Cryptorchidism, Ventricular septal defec... |
OMIM:619123 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Gm1 Gangliosidosis |
|
Low-set ears, Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Cardiomyopathy... |
ORPHA:354 |
| Lamellar Ichthyosis |
|
Renal insufficiency |
ORPHA:313 |
| Scrub Typhus |
|
Renal insufficiency, Splenomegaly |
ORPHA:83317 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti... |
OMIM:187600 |
| Acrofacial Dysostosis, Catania Type |
|
Small hand, Finger syndactyly, Intrauterine growth retardation, Clinodactyly of the 5th finger, B... |
ORPHA:1786 |
| Meningococcal Meningitis |
|
Elevated circulating C-reactive protein concentration, Renal insufficiency |
ORPHA:33475 |
| Acrootoocular Syndrome |
|
Low-set ears, Small hypothenar eminence, Conductive hearing impairment, Short toe, Sandal gap, Sh... |
ORPHA:2980 |
| Curry-Jones Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... |
ORPHA:1553 |
| Hajdu-Cheney Syndrome |
|
Aortic valve stenosis, Short distal phalanx of finger, Low-set ears, Coarse metaphyseal trabecula... |
ORPHA:955 |
| Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Broad femoral neck, Cryptorchidism, Ventricular septal defect, 2-3 toe syndactyly, Pe... |
OMIM:617164 |
| Boutonneuse Fever |
|
Renal insufficiency |
ORPHA:83313 |
| Eiken Syndrome |
|
Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet... |
OMIM:600002 |
| Kbg Syndrome |
|
Bilateral conductive hearing impairment, Finger clinodactyly, Cryptorchidism, Single transverse p... |
ORPHA:2332 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia |
OMIM:218670 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... |
OMIM:619743 |
| Severe Congenital Nemaline Myopathy |
|
Adducted thumb, Dysphagia, Micropenis, Hypospadias, Pulmonary hypoplasia |
ORPHA:171430 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth |
OMIM:272300 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Hearing impairment, Camptodactyly of finger, Microphthalmia, Micropenis, Rocker bottom foot |
OMIM:610756 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir... |
ORPHA:94093 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Single transverse palmar crease, Abnormal medullary pyramid morphology, Ventricular septal defect... |
ORPHA:79243 |
| Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis |
OMIM:619603 |
| Joubert Syndrome 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma... |
OMIM:614105 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Short thumb, Microphthalmia |
OMIM:609054 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Enlarged kidney |
OMIM:261740 |
| Cooper-Jabs Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Camptodactyly of finger, L... |
ORPHA:1488 |
| Lymphedema-Distichiasis Syndrome |
|
Chylothorax, Tetralogy of Fallot, Ventricular septal defect, Varicose veins, Microphthalmia, Pate... |
OMIM:153400 |
| Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Split foot, Microphthalmia |
OMIM:601349 |
| Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy |
ORPHA:567983 |
| Bent Bone Dysplasia Syndrome 1 |
|
Micrognathia, Natal tooth, Malar flattening, Gingival overgrowth |
OMIM:614592 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Abnormal hip bone morphology, Hypospadias, Microcephaly |
ORPHA:2522 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Epiphyseal stippling, Primary adrenal insufficiency, Cryptorchidism... |
ORPHA:912 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, ... |
OMIM:618727 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal helix morphology, Hearing impairment, Abnormal heart morphology, Atrioventricular canal ... |
ORPHA:453499 |
| Johanson-Blizzard Syndrome |
|
Sensorineural hearing impairment, Hydronephrosis, Abnormal cardiac septum morphology, Dextrocardi... |
ORPHA:2315 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft... |
ORPHA:423 |
| Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Patent ductus arteriosus, Renal insufficiency, Splenomegaly |
OMIM:251290 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Proteus Syndrome |
|
Low-set ears, Pulmonary cyst, Arteriovenous malformation, Finger syndactyly, Venous malformation,... |
ORPHA:744 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot |
OMIM:313350 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:99880 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormal intestine morphology, Esophageal carcinoma, Villous atrophy, Enterocolitis |
ORPHA:391487 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Low-set ears, Cupped ear, Hearing impairment, Ventricular septal defect, Sensorineural hearing im... |
ORPHA:52055 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... |
OMIM:617168 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormality of the ureter, Bilateral single transverse palmar ... |
ORPHA:3253 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Bronchogenic cyst, Abnormality of the parathyroid gland, Splenomegaly, Polycy... |
ORPHA:2969 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Perianal dermatitis, Increased fecal calprotectin level, Nec... |
OMIM:619573 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Cockayne Syndrome Type 3 |
|
Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Aortic root aneurysm, Subdur... |
ORPHA:90324 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... |
ORPHA:2633 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
2-3 finger syndactyly, Subvalvular aortic stenosis, Patent ductus arteriosus, Cryptorchidism |
ORPHA:1338 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Low-set ears, Broad proximal phalanges of the hand, Bilateral microphthalmos, Ethmoidal encephalo... |
OMIM:607597 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Proteinuria, Renal insufficiency |
OMIM:610965 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Low-set ears, Bilateral conductive hearing impairment, Clinodactyly, Atresia of the external audi... |
OMIM:620186 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Decreased urine output, Elevated circulating creatinine concentration, Acute kidney injury, Hyper... |
ORPHA:542323 |
| Raine Syndrome |
|
Hydroureter, Micromelia, Long hallux, Protruding tongue, Neonatal death, Hydronephrosis, Bowing o... |
OMIM:259775 |
| Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Overfolded helix, Patent foramen ovale, Ventricular septal defect, Arachnod... |
OMIM:615582 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Microme... |
OMIM:151210 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla... |
OMIM:170390 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Supernumerary nipple, Congenital hypothyroidism, Cryptorchidism, Ventricular septal defect, Atria... |
ORPHA:2519 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Low-set ears, Clinodactyly, Radial deviation of finger, Renal agenesis, HbH hemoglobin, Umbilical... |
OMIM:301040 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration |
OMIM:194380 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Low-set ears, Cupped ear, Clinodactyly, Down-sloping shoulders, Renal cyst, Scapular winging, Mix... |
OMIM:615560 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase leve... |
OMIM:300908 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Cystic pattern on pu... |
OMIM:610978 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set ears, Occipital encephalocele, Supernumerary nipple, Meningocele, Hypospadias, Renal dysp... |
ORPHA:397715 |
| Mgat2-Cdg |
|
Prominent antihelix, Abnormal earlobe morphology, Abnormal heart morphology, Low-set, posteriorly... |
ORPHA:79329 |
| Alveolar Echinococcosis |
|
Pulmonary cyst, Abnormal pericardium morphology, Hepatic cysts, Abnormal bladder morphology, Rena... |
ORPHA:284 |
| Pycnodysostosis |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Pers... |
ORPHA:763 |
| Chime Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle, Abnormal ep... |
ORPHA:3474 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Dilated cardiomyopathy, Microphthalmia |
OMIM:618805 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos... |
OMIM:218400 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Elevated circulating luteinizing hormone level, Clinodactyly, Radial deviation ... |
OMIM:305400 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Ohdo Syndrome |
|
Proteinuria |
OMIM:249620 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypodontia, Natal tooth, Oligodontia |
OMIM:601345 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Type I diabetes mellitus, Congenital pulmonary airway malformation, Autoimmune hemolytic anemia, ... |
ORPHA:436252 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Hand-Foot-Genital Syndrome |
|
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... |
OMIM:140000 |
| Tetrasomy 5P |
|
Overlapping toe, Talipes equinovarus, Short hallux, Hydrocephalus, Long fingers, High palate, Cli... |
ORPHA:3309 |
| Three M Syndrome 2 |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ... |
OMIM:612921 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:143 |
| Colchicine Poisoning |
|
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... |
ORPHA:31824 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Renal insufficiency |
ORPHA:139402 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Low-set ears, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Small thenar emine... |
OMIM:613458 |
| Cri-Du-Chat Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Single transverse palmar crease, Microcephaly, Short metata... |
OMIM:123450 |
| Pfeiffer Syndrome Type 2 |
|
Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Intestinal ma... |
ORPHA:93259 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Conotruncal defect, Hydrocephalus, Microtia |
OMIM:243440 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Situs inversus totalis, Microphthalmia |
OMIM:614833 |
| Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse me... |
OMIM:251300 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive... |
ORPHA:247353 |
| Ulnar-Mammary Syndrome |
|
Short distal phalanx of finger, Renal hypoplasia, Camptodactyly of finger, Breast aplasia, Abnorm... |
ORPHA:3138 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Pearson Marrow-Pancreas Syndrome |
|
Steatorrhea, Villous atrophy |
OMIM:557000 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Cryptorchidism, Ventricul... |
ORPHA:96121 |
| Opitz Gbbb Syndrome |
|
Low-set ears, Abnormality of the urinary system, Aortic root aneurysm, Hearing impairment, Umbili... |
ORPHA:2745 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli... |
ORPHA:3210 |
| Mend Syndrome |
|
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Broad hallux, Abnormal ... |
ORPHA:401973 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Abnormal fingertip morphology, Multicystic kidney dysplasia, Dilated cardiomyopathy, H... |
ORPHA:79404 |
| Hypomelanosis Of Ito |
|
Radial deviation of finger, Clinodactyly, Microcephaly, Hand polydactyly, Syndactyly |
OMIM:300337 |
| Fibromuscular Dysplasia, Multifocal |
|
Pulmonary artery aneurysm, Celiac artery dissection, Tortuous cerebral arteries, Dilatation of th... |
OMIM:619329 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum |
ORPHA:3214 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Aortic dissection, Mitral valve prolapse, Pulmonary arteriovenous malformation, Stroke, Hepatic a... |
OMIM:175050 |
| Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ne... |
ORPHA:29073 |
| Isolated Sedoheptulokinase Deficiency |
|
Abnormal renal tubule morphology, Renal insufficiency |
ORPHA:440713 |
| Martin-Probst Syndrome |
|
Proteinuria, Chordee, Renal insufficiency, Micropenis |
OMIM:300519 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ... |
OMIM:277900 |
| Adams-Oliver Syndrome 5 |
|
Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Brachydactyly, Right atrial ... |
OMIM:616028 |
| Acquired Von Willebrand Syndrome |
|
Hematuria |
ORPHA:99147 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Absent thumb, Renal agenesis, Horseshoe kidney, Bowed forearm bones, Hydrocephalus, Absent radius... |
OMIM:602200 |
| Systemic Sclerosis |
|
Chronic kidney disease, Acute kidney injury, Renal insufficiency, Elevated circulating creatine k... |
ORPHA:90291 |
| Harrod Syndrome |
|
Abnormal pelvic girdle bone morphology, Multicystic kidney dysplasia, Abnormal shoulder morpholog... |
ORPHA:2115 |
| Toriello-Carey Syndrome |
|
Low-set ears, Clinodactyly, Cardiomyopathy, Hearing impairment, Tetralogy of Fallot, Anotia, Cryp... |
ORPHA:3338 |
| Severe Hemophilia A |
|
Macroscopic hematuria |
ORPHA:169802 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Advanced eruption of teeth, High palate, Mandibular prognathia |
OMIM:262190 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Adenoma sebaceum, Hearing impairment, Cardiac rhabdomyoma, Pulmonary lymphang... |
OMIM:613254 |
| Cerebellar-Facial-Dental Syndrome |
|
Low-set ears, Slender long bone, Ureteropelvic junction obstruction, Cryptorchidism, Mitral valve... |
ORPHA:444072 |
| Oculoauriculofrontonasal Syndrome |
|
Microtia, Conductive hearing impairment, Encephalocele, Ventricular septal defect |
ORPHA:398156 |
| Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Polycystic ovaries, Proteinuria, Hypertriglyceridemia, ... |
ORPHA:79086 |
| Pelvis-Shoulder Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dislocation, Short... |
OMIM:169550 |
| Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... |
ORPHA:1826 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypodontia, Natal tooth, Delayed eruption of teeth, Oligodontia |
OMIM:614381 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... |
ORPHA:1112 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration |
ORPHA:79126 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Re... |
OMIM:191100 |
| Fabry Disease |
|
Nephropathy, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Abnormal renal tubule m... |
ORPHA:324 |
| Developmental And Epileptic Encephalopathy 1 |
|
Micropenis, Microphthalmia |
OMIM:308350 |
| Bartsocas-Papas Syndrome 1 |
|
Low-set ears, Hypoplastic scapulae, Hypoplastic iliac wing, Talipes equinovarus, Absent radius, M... |
OMIM:263650 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria, Umbilical hernia, High palate, Syndactyly |
OMIM:614520 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Finger syndactyly, Aganglionic megacolon, Microcephaly, Hypospadias, Cleft palate |
ORPHA:66629 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Xerostomia, Hydroureter, Hydronephrosis, Talipes equinovarus, Anal at... |
OMIM:100100 |
| Williams-Beuren Syndrome |
|
Recurrent otitis media, Mitral valve prolapse, Ventricular septal defect, Sensorineural hearing i... |
OMIM:194050 |
| Kabuki Syndrome 1 |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Cryptorchidism, Ventricular septal defe... |
OMIM:147920 |
| Osteoglosphonic Dysplasia |
|
Multiple unerupted teeth, Micrognathia, Tooth agenesis |
ORPHA:2645 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Tyshchenko Syndrome |
|
Low-set ears, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defe... |
OMIM:615102 |
| Restrictive Dermopathy |
|
Low-set ears, Pulmonary hypoplasia, Camptodactyly of finger, Small placenta, Large placenta, Shor... |
ORPHA:1662 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
| Snakebite Envenomation |
|
Hyponatremia, Acute kidney injury |
ORPHA:449285 |
| Fontaine Progeroid Syndrome |
|
Low-set ears, Cryptorchidism, Bicuspid aortic valve, Atrial septal defect, Microphthalmia, Patent... |
OMIM:612289 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Asymmetry of the ears, Cryptorchidism, Clinodactyly of the 5th toe, Microphthalm... |
OMIM:614225 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Hennekam Syndrome |
|
Low-set ears, Chylothorax, Arteriovenous malformation, Finger syndactyly, Camptodactyly of finger... |
ORPHA:2136 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Recurrent otitis media, Situs inversus totalis, Abdominal situs inversus, Dextrocardia |
OMIM:619607 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
| Methylcobalamin Deficiency Type Cble |
|
Clinodactyly, Intrauterine growth retardation, Microcephaly, Glomerulopathy, Hydrocephalus, Hemol... |
ORPHA:2169 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Shor... |
ORPHA:2750 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Splenomeg... |
ORPHA:829 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Chylothorax, Micromelia, Renal agenesis, Pleural effusion, Renal hy... |
ORPHA:3015 |
| 3Mc Syndrome 1 |
|
Short 5th finger, Caudal appendage, Hearing impairment, Conductive hearing impairment, Supernumer... |
OMIM:257920 |
| Marbach-Rustad Progeroid Syndrome |
|
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo... |
OMIM:619322 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Low-set ears, Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Camptodactyly, Ab... |
OMIM:614230 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:618885 |
| Mucoepithelial Dysplasia, Hereditary |
|
Hematuria |
OMIM:158310 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra... |
ORPHA:1515 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, Short toe, Thumb contracture, Abnormal heart m... |
ORPHA:171929 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Abnormal epiphysis morphology, Metaphyseal spurs, ... |
ORPHA:85167 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Ulnar deviation of finger, Umbilical hernia, Dislocated radial head, Patellar aplasia, Acetabular... |
OMIM:265000 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Nephrolithiasis, Hematu... |
ORPHA:534 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormal pelvic girdle bone morphology, Rhizomelia, Hearing impairment, Hemiatrophy, Stippled cal... |
OMIM:302960 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Clinodactyly of the 5th finger, Cupped ear, Microphthalmia |
OMIM:167730 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria |
OMIM:618250 |
| Congenital Factor X Deficiency |
|
Hematuria |
ORPHA:328 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of the maxilla, Narrow palate, Delayed eruption of teeth, T... |
ORPHA:192 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly |
OMIM:212140 |
| 20P13 Microdeletion Syndrome |
|
Low-set ears, Hypoplastic helices, Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly, P... |
ORPHA:313781 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Splenomegaly, Polycystic ovaries, Elevated circulating creatine kinase co... |
ORPHA:79240 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
| Autoerythrocyte Sensitization Syndrome |
|
Hematuria |
ORPHA:324636 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Low-set ears, Recurrent upper respiratory tract infections, Cupped ear, Bilateral microphthalmos,... |
ORPHA:2399 |
| Pfeiffer Syndrome Type 1 |
|
Low-set ears, Broad thumb, Toe syndactyly, Finger syndactyly, Hearing impairment, Aplasia/Hypopla... |
ORPHA:93258 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Ventricular septal defect, Atrial septal defect, Small thenar eminen... |
OMIM:105650 |
| Ohdo Syndrome, X-Linked |
|
Low-set ears, Clinodactyly, Short thumb, Hearing impairment, Overlapping toe, Long thumb, Cryptor... |
OMIM:300895 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hearing impairment, Recurrent otitis media, Cryptorchidism, Hand muscle atrophy, Ventricular sept... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hearing impairment, Recurrent otitis media, Cryptorchidism, Hand muscle atrophy, Ventricular sept... |
ORPHA:363958 |
| Cantú Syndrome |
|
Short distal phalanx of finger, Finger syndactyly, Umbilical hernia, Hypertrophic cardiomyopathy,... |
ORPHA:1517 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... |
ORPHA:3329 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Cardiomyopathy, Hydrocephalus, Microphthalmia, Optic nerve hypoplasia |
ORPHA:370959 |
| Momo Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u... |
ORPHA:2563 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:607155 |
| Vitreoretinochoroidopathy |
|
Retinal arteriolar constriction, Retinal arteriolar occlusion, Microphthalmia |
OMIM:193220 |
| Achondrogenesis Type 2 |
|
Hypoplastic ilia, Micromelia, Delayed pubic bone ossification, Delayed proximal femoral epiphysea... |
ORPHA:93296 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Low-set ears, Prominent fingertip pads, Supernumerary nipple, Joint contracture of the 5th finger... |
OMIM:620098 |
| Curry-Jones Syndrome |
|
Anal stenosis, Broad thumb, Intestinal pseudo-obstruction, Preaxial hand polydactyly, Intestinal ... |
OMIM:601707 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... |
ORPHA:90038 |
| Down Syndrome |
|
Type II diabetes mellitus, Bilateral single transverse palmar creases, Acute megakaryocytic leuke... |
ORPHA:870 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Large placenta, Neonatal death, Diaphyseal undertubula... |
OMIM:215140 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Toe syndactyly, Arteriovenous malformation, Finger syndactyly, Hand polydactyly, Hydrocephalus, F... |
ORPHA:60040 |
| Baraitser-Winter Syndrome 2 |
|
Abnormal pinna morphology, Hearing impairment, Microphthalmia |
OMIM:614583 |
| Filippi Syndrome |
|
Finger syndactyly, Supernumerary nipple, Bilateral single transverse palmar creases, Cryptorchidi... |
ORPHA:3255 |
| Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Bilateral renal agenesis, Short toe, Abnormal lung lobation, Ureteral ... |
OMIM:617667 |
| Dysosteosclerosis |
|
Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth |
ORPHA:1782 |
| Zimmermann-Laband Syndrome 1 |
|
Low-set ears, Short distal phalanx of finger, Long penis, Aortic root aneurysm, Hearing impairmen... |
OMIM:135500 |
| Orofaciodigital Syndrome Type 6 |
|
Conductive hearing impairment, Renal agenesis, Finger clinodactyly, Preaxial polydactyly, Abnorma... |
ORPHA:2754 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Oculodentodigital Dysplasia |
|
Conductive hearing impairment, Clinodactyly, 3-4 toe syndactyly, Joint contracture of the 5th fin... |
OMIM:164200 |
| Fetal Akinesia Deformation Sequence |
|
Camptodactyly of finger, Intrauterine growth retardation, Intestinal hypoplasia, Absent palmar cr... |
ORPHA:994 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Patent ductus arteriosus, Cryptorchidism, Ventricular septal defect |
ORPHA:452 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Hyperaldosteronism, Adrenal hyperplasia, Ventricular septal defect, Tinn... |
ORPHA:369929 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Hughes-Stovin Syndrome |
|
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis |
ORPHA:228116 |
| Orofaciodigital Syndrome Ii |
|
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Short palm, Preaxial fo... |
OMIM:252100 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Ventricular septal defect |
OMIM:616816 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Short thumb, Radioulnar synostosis, Syndactyly, Hypoplasia of the rad... |
OMIM:263750 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular filtration rate, Re... |
ORPHA:91500 |
| Cocaine Intoxication |
|
Acute kidney injury, Hematuria, Proteinuria, Glomerulonephritis, Tubulointerstitial nephritis |
ORPHA:90068 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Renal cyst, Ovarian dermoid cyst |
ORPHA:480536 |
| Long-Olsen-Distelmaier Syndrome |
|
Low-set ears, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricul... |
OMIM:620609 |
| Nance-Horan Syndrome |
|
Protruding ear, Short metacarpal, Microphthalmia |
ORPHA:627 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Low-set, posteriorly rotated ears, Cryptorchidism, Microphthalmia, Hypospadias,... |
ORPHA:2505 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Hypodontia, Delayed eruption of teeth, Oligodontia |
ORPHA:447896 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Oliguria, Renal insufficiency |
ORPHA:220393 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Microglossia, Anteriorly placed anus, Aplasia/Hypoplasia of the middle phalanges of the hand, Hyp... |
OMIM:151050 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Persistence of primary teeth, Carious teeth, Mandibular prognathia, Mandibular osteomyelitis |
OMIM:259710 |
| Hellp Syndrome |
|
Hemoglobinuria, Proteinuria, Acute kidney injury |
ORPHA:244242 |
| 48,Xxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... |
ORPHA:96263 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Recurrent otitis media, Ventricular septal defect, Hydronephrosis, Cardio... |
OMIM:614921 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... |
OMIM:277000 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, Hypospadias, Hemolytic-uremic ... |
OMIM:611209 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Downturned corners of mouth, Widely spaced teeth, Open mouth, Advanced eruption of teeth, Everted... |
OMIM:617865 |
| 46,Xx Sex Reversal 5 |
|
Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Increased serum... |
OMIM:618901 |
| Ataxia-Telangiectasia |
|
Female hypogonadism, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recurrent ... |
OMIM:208900 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Hepatomegaly |
ORPHA:1454 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Low-set ears, Slender finger, Conductive hearing impairment, Atresia of the external auditory can... |
OMIM:610536 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Patent ductus arteriosus after premature birth, Ventricular septal def... |
OMIM:620454 |
| Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:2318 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis |
ORPHA:900 |
| Eosinophilic Gastroenteritis |
|
Protein-losing enteropathy, Hematochezia, Abnormality of the gastrointestinal tract, Steatorrhea,... |
ORPHA:2070 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Aortic root aneurysm, Hearing impairment, Aspiration pneumonia, Ventricular septal de... |
ORPHA:444077 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Non-acidotic proximal tubulopathy |
OMIM:222448 |
| 8Q21.11 Microdeletion Syndrome |
|
Low-set ears, Finger syndactyly, Hearing impairment, Camptodactyly of finger, Cryptorchidism, Abn... |
ORPHA:284160 |
| Monosomy 9Q22.3 |
|
Low-set ears, Palmar pits, Umbilical hernia, Nephroblastoma, Polydactyly, Cardiac fibroma, Ovaria... |
ORPHA:77301 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Low-set ears, Unilateral renal agenesis, Abnormal helix morphology, Toe syndactyly, Branchial fis... |
ORPHA:261337 |
| Pierson Syndrome |
|
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... |
OMIM:609049 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... |
ORPHA:2378 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Elevated circulating thyroid-stimulating hormone concentration, Megacystis, ... |
ORPHA:209905 |
| Cholera |
|
Acute kidney injury, Hypocalcemia, Hypokalemia, Hyponatremia, Decreased urine output, Abnormal bl... |
ORPHA:173 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... |
ORPHA:2241 |
| Joubert Syndrome With Renal Defect |
|
Nephropathy, Renal insufficiency |
ORPHA:220497 |
| Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections |
OMIM:615873 |
| Neurocardiofaciodigital Syndrome |
|
Hearing impairment, Tetralogy of Fallot, Vesicoureteral reflux, Polydactyly, Atrial septal defect... |
OMIM:619869 |
| Cerebrofacioarticular Syndrome |
|
Renal hypoplasia, Caudal appendage, Conductive hearing impairment, Abnormal heart morphology, Abs... |
ORPHA:314679 |
| Trichorhinophalangeal Syndrome, Type I |
|
Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Micrognathia, Micro... |
OMIM:190350 |
| Immunodeficiency 9 |
|
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count |
OMIM:612782 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Klippel-Trenaunay-Weber Syndrome |
|
Macrodactyly, Finger aplasia, Hand polydactyly, Arteriovenous fistula, Lymphangioma, Syndactyly |
OMIM:149000 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Polydactyly, Aganglionic megacolon, Abnormal renal morphology, Tracheoesophage... |
ORPHA:59315 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Dysphagia, Pulmonary hypoplasia |
OMIM:616867 |
| Fanconi Anemia, Complementation Group L |
|
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Absent th... |
OMIM:614083 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Recurrent otitis media, Femoral... |
OMIM:608940 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Splenomegaly, Polycystic ovaries, Elevated circulating creatine kinase co... |
ORPHA:264580 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Hyperammonemia, Elevated circulating... |
OMIM:616878 |
| Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th... |
ORPHA:1461 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Elbow dislocation, Atresia of the exter... |
ORPHA:199 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Nephritis, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipid concentra... |
ORPHA:2298 |
| Esophageal Atresia |
|
Pyloric stenosis, Barrett esophagus, Abnormality of the urinary system, Gastroesophageal reflux, ... |
ORPHA:1199 |
| Mercury Poisoning |
|
Hypokalemia, Acute kidney injury |
ORPHA:330021 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia, Facial hyperostosis, M... |
ORPHA:2780 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis, Ventricular septal defect |
OMIM:123700 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Abnormality of the ureter, Aganglionic megacolon, Brachydactyly, Short... |
ORPHA:3339 |
| 49,Xxxxy Syndrome |
|
Carious teeth, Delayed eruption of teeth, Open bite, Abnormal dental enamel morphology, Taurodont... |
ORPHA:96264 |
| Fanconi Anemia, Complementation Group S |
|
Clinodactyly, Ovarian carcinoma, Microphthalmia, Anemia, Ovarian neoplasm, Proximal placement of ... |
OMIM:617883 |
| Renal Agenesis, Bilateral |
|
Renal agenesis, Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft pala... |
ORPHA:1848 |
| Diamond-Blackfan Anemia 5 |
|
Low-set ears, Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Ret... |
OMIM:612528 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Microcephaly, Clinodactyly, Syndactyly |
OMIM:619091 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Ventr... |
OMIM:214300 |
| Marshall-Smith Syndrome |
|
Low-set ears, Bilateral conductive hearing impairment, Hearing impairment, Aspiration pneumonia, ... |
OMIM:602535 |
| Coffin-Siris Syndrome |
|
Short 5th finger, Recurrent upper respiratory tract infections, Clinodactyly, Hearing impairment,... |
ORPHA:1465 |
| Arboleda-Tham Syndrome |
|
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... |
OMIM:616268 |
| Acute Adrenal Insufficiency |
|
Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased urinary potassium, Renal salt wasting... |
ORPHA:95409 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Low-set ears, Ureterocele, Overfolded helix, Cryptorchidism, 2-3 toe syndactyly, Posteriorly rota... |
OMIM:616734 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Cryptor... |
ORPHA:2152 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Anoperineal fistula, Villous atrophy, Crohn's disease, Gastritis, Colitis, Duodenal ulcer |
OMIM:619381 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Low-set ears, Camptodactyly of finger, Atrioventricular canal defect, Thyroid hypoplasia, Bilater... |
ORPHA:3047 |
| Pfeiffer Syndrome |
|
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... |
OMIM:101600 |
| Kaufman Oculocerebrofacial Syndrome |
|
Low-set ears, Congenital hip dislocation, Single transverse palmar crease, Narrow palm, Ventricul... |
OMIM:244450 |
| Premature Aging Syndrome, Penttinen Type |
|
Short distal phalanx of finger, Slender long bone, Elevated circulating thyroid-stimulating hormo... |
OMIM:601812 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Intestinal malrotation, Hydroureter, Fetal megacystis |
OMIM:249210 |
| Atrial Septal Defect 1 |
|
Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,... |
OMIM:108800 |
| Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
| Fetal Alcohol Syndrome |
|
Low-set, posteriorly rotated ears, Atrial septal defect, Microphthalmia |
ORPHA:1915 |
| Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio... |
ORPHA:36234 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Ketonuria, Methylmalonic aciduria, Renal... |
ORPHA:79282 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... |
OMIM:605282 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Microspherophakia, Broad phalanges of the hand, Ventricular septal defect,... |
OMIM:277600 |
| Gaucher Disease Type 1 |
|
Hematuria |
ORPHA:77259 |
| Oeis Complex |
|
Duplicated collecting system, Congenital hip dislocation, Hydroureter, Renal agenesis, Duplicated... |
OMIM:258040 |
| Scalp-Ear-Nipple Syndrome |
|
Low-set ears, Broad thumb, Finger syndactyly, Underdeveloped tragus, Breast aplasia, Renal insuff... |
OMIM:181270 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
| Achondroplasia |
|
Rhizomelia, Radial bowing, Flared metaphysis, Bowing of the legs, Femoral bowing, Trident hand, L... |
OMIM:100800 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
High, narrow palate, Gastroesophageal reflux, Clinodactyly, Horseshoe kidney, Intrauterine growth... |
ORPHA:96182 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
| Desbuquois Dysplasia 2 |
|
Toe clinodactyly, Bifid uvula, Epiphyseal dysplasia, Broad thumb, Hip dislocation, Monkey wrench ... |
OMIM:615777 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... |
ORPHA:1788 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Unilateral renal agenesis, Hearing impairment, Coronary artery fistula, Cryptorchidism, Ventricul... |
OMIM:620024 |
| Stromme Syndrome |
|
Low-set ears, Accessory spleen, Bilateral renal hypoplasia, Preaxial polydactyly, Hydronephrosis,... |
OMIM:243605 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hydrocephalus, Microphthalmia |
OMIM:615181 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Hypogonadism, Anophthalmia, Cryptorchidism, Microphthalmia, Hypoplasia of penis |
ORPHA:2250 |
| Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Optic n... |
OMIM:615879 |
| Relapsing Polychondritis |
|
Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:728 |
| Restrictive Dermopathy 1 |
|
Overtubulated long bones, Congenital pseudoarthrosis of the clavicle, Hydropic placenta, Intraute... |
OMIM:275210 |
| 16P13.11 Microdeletion Syndrome |
|
Low-set ears, Atresia of the external auditory canal, Camptodactyly of finger, Metatarsus valgus,... |
ORPHA:261236 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Cardiac fibroma, Polydactyly... |
OMIM:109400 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Interstitial emphysema, Dilatation of the renal pelvis, Over... |
OMIM:619708 |
| Joubert Syndrome 1 |
|
Nephropathy, Low-set ears, Postaxial foot polydactyly, Clinodactyly, Occipital myelomeningocele, ... |
OMIM:213300 |
| Multifocal Atrial Tachycardia |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Hypothyroidism, Atrial se... |
ORPHA:3282 |
| Craniolenticulosutural Dysplasia |
|
Bifid uvula, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, Malar flattenin... |
OMIM:607812 |
| Warburg Micro Syndrome 3 |
|
Decreased testicular size, Microphthalmia, Micropenis, Clinodactyly of the 5th finger, Macrotia |
OMIM:614222 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Delayed eruption of teeth, Widely spaced teeth, Abnormal dental enamel morphology,... |
ORPHA:1071 |
| Lujo Hemorrhagic Fever |
|
Microscopic hematuria, Oliguria, Renal insufficiency |
ORPHA:319213 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Low-set ears, Overfolded helix, Hypoplastic nipples, Long fingers, Microphthalmia, Pectus excavat... |
OMIM:156610 |
| Pachyonychia Congenita |
|
Angular cheilitis, Natal tooth, Oral leukoplakia, Advanced eruption of teeth |
ORPHA:2309 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Cryptorchidism, Hydronephrosis, Delayed puberty, Microphthalmi... |
ORPHA:2510 |
| Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... |
ORPHA:101330 |
| Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney |
ORPHA:1764 |
| Acrocallosal Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Protruding tongue, Anal atresia, H... |
OMIM:200990 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia, Macrotia, Ventricular septal defect |
OMIM:234050 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Low-set ears, Hypogonadism, Encephalocele, Cryptorchidism, Microphthalmia |
ORPHA:228390 |
| Trisomy 9P |
|
Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth |
ORPHA:236 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Mitral valve prolapse, Adducted thumb, Pectus excavatum, Macroorchidis... |
OMIM:618874 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact... |
ORPHA:2710 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Low-set ears, Aspiration pneumonia, Sensorineural hearing impairment, Intraventricular hemorrhage... |
OMIM:616430 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
High palate, Supernumerary tooth, Persistence of primary teeth |
OMIM:619752 |
| Wagro Syndrome |
|
Proteinuria, Nephroblastoma |
OMIM:612469 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Low-set ears, Patent foramen ovale, Ventricular septal defect, Talipes equinovarus, Posteriorly r... |
OMIM:614961 |
| Noonan Syndrome 1 |
|
Low-set ears, Chylothorax, Clinodactyly, Radial deviation of finger, Hearing impairment, Hypertro... |
OMIM:163950 |
| Schwartz-Jampel Syndrome |
|
Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Bowing of the long bo... |
ORPHA:800 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos, Posteriorly rotated ears, Atresia of the external auditory canal, Hear... |
OMIM:301018 |
| Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Pyuria |
ORPHA:536 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Low-set ears, Slender finger, Small hand, Broad thumb, Broad hallux, Decreased testicular size, A... |
ORPHA:251028 |
| D-Bifunctional Protein Deficiency |
|
Low-set ears, Hearing impairment, Primary adrenal insufficiency, Splenomegaly, Renal cyst, Talipe... |
OMIM:261515 |
| Tetraamelia Syndrome 1 |
|
Low-set ears, Renal agenesis, Hypoplastic pelvis, Adrenal gland agenesis, Urethral atresia, Hydro... |
OMIM:273395 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Pectus excavatum, P... |
OMIM:615279 |
| Pachyonychia Congenita 2 |
|
Angular cheilitis, Natal tooth, Oral leukoplakia |
OMIM:167210 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Hypoplasia of the maxilla, Downturned corners of mouth, Retrognathia, Microg... |
ORPHA:2409 |
| Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Pulmonary hypoplasia |
ORPHA:2140 |
| Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Recurrent res... |
ORPHA:30 |
| Lead Poisoning |
|
Chronic kidney disease, Increased LDL cholesterol concentration, Renal tubular dysfunction, Decre... |
ORPHA:330015 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos... |
OMIM:615631 |
| Frontonasal Dysplasia 3 |
|
Low-set ears, Posteriorly rotated ears, Microphthalmia |
OMIM:613456 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, High palate, Pulmonary hypoplasia |
OMIM:255320 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Short toe, Syndactyly |
OMIM:612581 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Carpal synostosis, Limited elbow ex... |
OMIM:272460 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to... |
ORPHA:2751 |
| Pearson Syndrome |
|
Glycosuria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Splenomegaly, Hypokalemia, Protein... |
ORPHA:699 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Hypoplastic left heart, Tetralogy of Fallot, Cryptorchidism, Patent foramen ovale, Ventricular se... |
OMIM:618748 |
| Glycogen Storage Disease Xii |
|
Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulating creatine kinase... |
OMIM:611881 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... |
OMIM:602450 |
| Delpire-Mcneill Syndrome |
|
Bilateral sensorineural hearing impairment, Hip dislocation, Ventricular septal defect |
OMIM:619083 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Low-set ears, Hearing impairment, Carpal synostosis, Elbow flexion contracture, Cutaneous finger ... |
OMIM:178110 |
| 1Q41Q42 Microdeletion Syndrome |
|
Submucous cleft hard palate, Talipes equinovarus, Holoprosencephaly, Cleft palate, Pulmonary hypo... |
ORPHA:250999 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Low-set ears, Aortic root aneurysm, Hearing impairment, Cryptorchidism, Ventricular septal defect... |
OMIM:607872 |
| Vascular Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the earlobes, Cryptorchidism, Mitral valve prolapse, Talipes equinovarus, H... |
ORPHA:286 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Conductive hearing impairment, Supernumerary nipple, Abnormal heart morphology, Vesicoureteral re... |
ORPHA:453504 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:235200 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Conductive hearing impairment, Supernumerary nipple, Abnormal heart morphology, Vesicoureteral re... |
ORPHA:352665 |
| Gitelman Syndrome |
|
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Hypocalcemia, Rena... |
ORPHA:358 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Conductive hearing impairment, Renal agenesis, Preaxial hand polyda... |
ORPHA:1297 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Small hand, Semilobar holoprosencephaly, Clinodactyly, Broad hallux, Contracture of the proximal ... |
OMIM:301044 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Andersen-Tawil Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Persistence of primary ... |
ORPHA:37553 |
| Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatine kinase conce... |
ORPHA:454836 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Microphtha... |
OMIM:617914 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Short philtrum, Natal tooth, Cleft palate |
OMIM:617337 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Perineal fistula, Renal hypoplasia/aplasia, R... |
ORPHA:2753 |
| Postaxial Acrofacial Dysostosis |
|
Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p... |
ORPHA:246 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Hydrocephalus, Cryptorchidism, Microphthalmia |
OMIM:601794 |
| Diets-Jongmans Syndrome |
|
Hearing impairment, Umbilical hernia, Long ear, Cryptorchidism, Heterotaxy, Ventricular septal de... |
OMIM:618846 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Low-set ears, Hearing impairment, Recurrent otitis media, Bicuspid aortic valve, Cone-shaped epip... |
OMIM:150230 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Radial bowing, Ulnar bowing, Sensori... |
OMIM:605432 |
| Cole-Carpenter Syndrome |
|
Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth |
ORPHA:2050 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Adrenal cortical sclerosis, Abnormal pelvic girdle bone morphology, Recurrent pneumoni... |
OMIM:102700 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Abnormal dental morphology, Supernumerary tooth, Delayed eruption of teeth, Tooth agenesis |
ORPHA:3353 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
| Noonan Syndrome 3 |
|
Low-set ears, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cryptorchidism, Mitr... |
OMIM:609942 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Microphthalmia |
ORPHA:1942 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Pyloric stenosis |
OMIM:226700 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downturned corners of mouth, Abnormal mandible morphology, Long philtrum, Narrow mouth, Exaggerat... |
ORPHA:2215 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Tri... |
OMIM:615550 |
| Trichohepatoneurodevelopmental Syndrome |
|
Low-set ears, Hip dislocation, Cholelithiasis, Recurrent otitis media, Overlapping toe, Fibular b... |
OMIM:618268 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Microphthalmia |
ORPHA:1135 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Low-set ears, Clinodactyly, Ventricular septal defect, Spina bifida occulta, Atrial septal defect... |
OMIM:617360 |
| Lateral Meningocele Syndrome |
|
Low-set ears, Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of t... |
ORPHA:2789 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619909 |
| Laubry-Pezzi Syndrome |
|
Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv... |
ORPHA:99094 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent... |
ORPHA:99095 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Low-set ears, Aplasia of the distal phalanx of the 5th toe, Short finger, Ventricular septal defe... |
OMIM:608670 |
| Crane-Heise Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, Finger s... |
ORPHA:1512 |
| Mitchell-Riley Syndrome |
|
Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Jejunal atresia, Acholic sto... |
OMIM:615710 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Fetal Akinesia Deformation Sequence 1 |
|
High, narrow palate, Slender long bone, Camptodactyly of finger, Small placenta, Ulnar deviation ... |
OMIM:208150 |
| Limb-Mammary Syndrome |
|
Bifid uvula, Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Cleft palat... |
OMIM:603543 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Hearing impairment, Cryptorchidism, Ve... |
ORPHA:261250 |
| Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Anuria, Microcephaly, Pulmonary hypopl... |
OMIM:267430 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Urethra... |
OMIM:619522 |
| King-Denborough Syndrome |
|
Low-set ears, Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect |
OMIM:619542 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Emphysema, Lymphopenia... |
OMIM:242700 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial foot polydactyly, Radial deviation of finger, Hearing impairment, Abnormality of the ov... |
OMIM:209900 |
| Dysosteosclerosis |
|
Natal tooth, Absent paranasal sinuses, Delayed eruption of teeth, Micrognathia, Oligodontia, Abse... |
OMIM:224300 |
| Pyomyositis |
|
Renal insufficiency |
ORPHA:764 |
| Coffin-Siris Syndrome 12 |
|
Low-set ears, Broad thumb, Cryptorchidism, Sensorineural hearing impairment, Radioulnar synostosi... |
OMIM:619325 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Low-set ears, Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Crypto... |
OMIM:619103 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Hearing impairment, Genu valgu... |
OMIM:143095 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Palmoplantar keratoderma, Atresia of the external auditory canal, Conductive hearing impairment, ... |
OMIM:106260 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Micropenis, Hypercholesterolemia |
OMIM:619471 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Widely spaced ... |
OMIM:619229 |
| Neu-Laxova Syndrome 2 |
|
Toe syndactyly, Finger syndactyly, Intrauterine growth retardation, Microcephaly, Spina bifida, H... |
OMIM:616038 |
| Q Fever |
|
Hematuria |
ORPHA:781 |
| Yunis-Varon Syndrome |
|
Low-set ears, Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Bilateral... |
OMIM:216340 |
| Camptobrachydactyly |
|
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Urinary incon... |
OMIM:114150 |
| Fatco Syndrome |
|
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... |
ORPHA:2492 |
| Alstrom Syndrome |
|
Nephritis, Renal insufficiency, Hypertriglyceridemia, Hyperuricemia, Hepatomegaly, Decreased HDL ... |
OMIM:203800 |
| Garg-Mishra Progeroid Syndrome |
|
Slender long bone, Slender metacarpals, Microphthalmia, Broad palm, Coxa valga |
OMIM:620601 |
| Neuromuscular Oculoauditory Syndrome |
|
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... |
OMIM:618733 |
| Rift Valley Fever |
|
Hematuria |
ORPHA:319251 |
| Peters-Plus Syndrome |
|
Low-set ears, Square pelvis bone, Hearing impairment, Cryptorchidism, Ventricular septal defect, ... |
OMIM:261540 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Thick vermilion border, Open mouth, Everted lower lip vermilion, High ... |
OMIM:615866 |
| Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Crumpled ear, Conductive hearing impairment, Atriov... |
OMIM:600373 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Finger syndactyly, Hearing impa... |
ORPHA:110 |
| Joubert Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... |
OMIM:610188 |
| Costello Syndrome |
|
Ulnar deviation of finger, Hypertrophic cardiomyopathy, Low-set, posteriorly rotated ears, Large ... |
ORPHA:3071 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage... |
OMIM:309000 |
| Postinfectious Vasculitis |
|
Hematuria, Proteinuria, Glomerulonephritis, Membranoproliferative glomerulonephritis |
ORPHA:48435 |
| Achondrogenesis, Type Ia |
|
Hypoplastic scapulae, Severe limb shortening, Abnormal femoral metaphysis morphology, Micromelia,... |
OMIM:200600 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Recurrent pneumonia, Displacement of the papillary muscles, Abnormal... |
ORPHA:1329 |
| Lethal Acantholytic Erosive Disorder |
|
Abnormal helix morphology, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, 2-3 finger syndact... |
ORPHA:158687 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Oligodactyly, Aniridia, Absent hand, Sensorineural hearing impairment, Split hand |
ORPHA:2440 |
| Elsahy-Waters Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Long phil... |
OMIM:211380 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hypoplastic ilia, Atelectasis, Slender long bones with narrow diaphyses, Dysplasia of the femoral... |
ORPHA:536467 |
| Joubert Syndrome 33 |
|
Splenomegaly, Syndactyly |
OMIM:617767 |
| Cerebellofaciodental Syndrome |
|
Low-set ears, Slender long bone, Proximal femoral epiphysiolysis, Genu valgum, Cryptorchidism, Mi... |
OMIM:616202 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Low-set ears, Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorch... |
OMIM:613457 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Low-set ears, Microcytic anemia, Microphthalmia |
OMIM:612379 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Congenital sensorineural hearing impairment, Posteriorly rotated ... |
OMIM:617306 |
| Monosomy 22 |
|
Finger syndactyly, Low-set, posteriorly rotated ears, Hepatosplenomegaly, Single transverse palma... |
ORPHA:96123 |
| Coffin-Siris Syndrome 1 |
|
Low-set ears, Hearing impairment, Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia o... |
OMIM:135900 |
| Short Syndrome |
|
Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Micrognathia, Hypodo... |
OMIM:269880 |
| Radio-Tartaglia Syndrome |
|
Low-set ears, Precocious puberty, Conductive hearing impairment, Hearing impairment, Large earlob... |
OMIM:619312 |
| Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency |
OMIM:203300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior ... |
OMIM:618775 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
| Craniodigital-Intellectual Disability Syndrome |
|
Spina bifida occulta, Finger syndactyly |
ORPHA:1514 |
| Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Glandular hypospadias, Talipes equinovarus, Pneumothorax, Short femur, Pulmonary hyp... |
OMIM:620306 |
| Witteveen-Kolk Syndrome |
|
Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Hearing impairment, Over... |
OMIM:613406 |
| Mpi-Cdg |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage |
ORPHA:79319 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Familial Mediterranean Fever |
|
Nephropathy, Nephrocalcinosis, Splenomegaly, Proteinuria, Nephrotic syndrome |
ORPHA:342 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Trichothiodystrophy 3, Photosensitive |
|
Eclabion, Carious teeth, Natal tooth |
OMIM:616395 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Protruding ear, Microphthalmia |
OMIM:152950 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Aglossia, Holoprosencephaly, Cleft palate, Pulmonary hypoplasia |
OMIM:202650 |
| Lacrimoauriculodentodigital Syndrome |
|
Low-set ears, Toe syndactyly, Finger syndactyly, Clinodactyly, Cryptorchidism, Sensorineural hear... |
ORPHA:2363 |
| Barber-Say Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Dental malocclusion, Velopharyngeal insufficien... |
OMIM:209885 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Pulmonary hypoplasia, Microcolon, Anuria, Megacystis, Ileal atr... |
OMIM:619351 |
| Multiple Pterygium Syndrome, X-Linked |
|
Intrauterine growth retardation, Short finger, Cleft palate, Pulmonary hypoplasia |
OMIM:312150 |
| Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal helix morphology, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of... |
ORPHA:1005 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Carious teeth, Enamel hypoplasia, Delayed eruption of teeth |
OMIM:277440 |
| 8Q22.1 Microdeletion Syndrome |
|
Low-set ears, Sandal gap, Finger syndactyly, Camptodactyly of finger, Hypogonadism, Abnormal anti... |
ORPHA:178303 |
| Saethre-Chotzen Syndrome |
|
Low-set ears, Broad thumb, Conductive hearing impairment, Finger syndactyly, Hearing impairment, ... |
ORPHA:794 |
| Distal Deletion 10Q |
|
Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl... |
ORPHA:96148 |
| Distal Deletion 19P |
|
Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly rotated ears, Ventricular s... |
ORPHA:96129 |
| Sacral Defect With Anterior Meningocele |
|
Urinary retention, Myelomeningocele, Myeloschisis, Neurogenic bladder, Hydrocephalus, Rectal absc... |
OMIM:600145 |
| Frontometaphyseal Dysplasia 1 |
|
Dental malocclusion, Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary ... |
OMIM:305620 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Micrognathia, Natal tooth |
OMIM:617802 |
| Melas |
|
Nephropathy, Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy |
ORPHA:550 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Renal amyloidosis, Abnormal circulating selenium concentration, IgA depos... |
ORPHA:79408 |
| Acrodysostosis |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Open bite, Open mouth, Mandibular prognathia |
ORPHA:950 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:612462 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... |
OMIM:613674 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Micrognathia, Delayed eruption of teeth |
ORPHA:73272 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Hepatomegaly, Renal insufficiency |
OMIM:226980 |
| Hallermann-Streiff Syndrome |
|
Low-set ears, Recurrent pneumonia, Slender long bone, Cryptorchidism, Abnormality of the hand, Sp... |
OMIM:234100 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Increased circulating ferritin concentration, Oroticaciduria, Stag... |
OMIM:222700 |
| Melnick-Needles Syndrome |
|
Tooth malposition, Craniofacial hyperostosis, Micrognathia, Delayed eruption of teeth |
ORPHA:2484 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Protruding ear, Recurrent respiratory infections, Hearing impairment, Microphthalmia |
ORPHA:1806 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia, Pheochromocytoma, Sensorineural hearing impairment, Tinnitus, Multiple renal cysts,... |
OMIM:193300 |
| Von Hippel-Lindau Disease |
|
Elevated circulating catecholamine level, Polycythemia, Cardiomyopathy, Neoplasm of the pancreas,... |
ORPHA:892 |
| Cranioectodermal Dysplasia 4 |
|
Stage 5 chronic kidney disease |
OMIM:614378 |
| Acrofacial Dysostosis, Palagonia Type |
|
High, narrow palate, Small hand, Finger syndactyly, Short 4th metacarpal, Spina bifida occulta |
ORPHA:1787 |
| Neu-Laxova Syndrome |
|
Bifid uvula, Micromelia, Intrauterine growth retardation, Submucous cleft hard palate, Microcepha... |
ORPHA:2671 |
| Acrocraniofacial Dysostosis |
|
Advanced eruption of teeth, Short philtrum, Micrognathia, Cleft palate |
ORPHA:949 |
| Ellis-Van Creveld Syndrome |
|
Natal tooth, Delayed eruption of teeth, Cleft upper lip, Hypodontia, Abnormal alveolar ridge morp... |
OMIM:225500 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Multicystic kidney dysplasia, Hearing impairment, Inferior pubic ramu... |
OMIM:606170 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Micropenis, Microtia, Sho... |
OMIM:617798 |
| Osteogenesis Imperfecta |
|
Abnormal tibia morphology, Genu valgum, Intestinal obstruction, Bowing of the long bones, Diaphys... |
ORPHA:666 |
| Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease |
OMIM:208060 |
| Tbck-Related Intellectual Disability Syndrome |
|
Clinodactyly, Decreased response to growth hormone stimulation test, Broad finger, Central adrena... |
ORPHA:488632 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Abnormality of the elbow, Slender long bone, Pulmonary hypoplasia |
ORPHA:1486 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Anal atresia, Finger syndactyly, Bilateral cleft palate |
ORPHA:1997 |
| Gapo Syndrome |
|
Delayed eruption of teeth, Long philtrum, Micrognathia, Abnormal palate morphology, Everted lower... |
ORPHA:2067 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ... |
ORPHA:99885 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:103580 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Sensorineural hearing impairment, Abnormally large globe, Hydrocephalus, Microphthalmia |
OMIM:615249 |
| 3M Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p... |
ORPHA:2616 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Gingivitis, Abnormality of the dentition, Delayed eruption of teeth, Cleft palate |
ORPHA:2314 |
| Bartsocas-Papas Syndrome |
|
Toe syndactyly, Absent thumb, Finger syndactyly, Renal hypoplasia/aplasia, Microcephaly, Aplasia/... |
ORPHA:1234 |
| Acromelic Frontonasal Dysostosis |
|
Low-set ears, Dilation of Virchow-Robin spaces, Short tibia, Patellar hypoplasia, Preaxial hand p... |
OMIM:603671 |
| Pallister-Killian Syndrome |
|
Aortic valve stenosis, Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, ... |
OMIM:601803 |
| Monosomy 13Q14 |
|
Low-set ears, Finger syndactyly, Protruding ear, Aplasia/Hypoplasia of the thumb, Brachydactyly, ... |
ORPHA:1587 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Low-set ears, Encephalocele, Adducted thumb, Hydrocephalus, Microphthalmia, Microtia, Optic nerve... |
OMIM:614643 |
| Recon Progeroid Syndrome |
|
Dental crowding, Prominence of the premaxilla, Smooth philtrum, Thin vermilion border, Delayed er... |
OMIM:620370 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Low-set ears, Slender long bone, Macrotia, Ventricular septal defect, Sensorineural hearing impai... |
OMIM:212066 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Protruding ear, Hip dysplasia, Ventricular septal defect |
OMIM:618798 |
| Nance-Horan Syndrome |
|
Short phalanx of finger, Macrotia, Broad finger, Microphthalmia |
OMIM:302350 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Abnormal pelvic girdle bone morphology, Hydroureter, Anteriorly placed... |
OMIM:600057 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Ventricular septal defect, B... |
OMIM:271640 |
| Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis |
ORPHA:60025 |
| Dubowitz Syndrome |
|
Low-set ears, Aplastic anemia, Hypoplasia of the iris, Otitis media, Single transverse palmar cre... |
OMIM:223370 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Intrauterine growth retardation, Short finger, Cleft palate, Pulmonary hypoplasia |
OMIM:253290 |
| Rabson-Mendenhall Syndrome |
|
Precocious puberty, Nephrocalcinosis, Long penis, Cardiomyopathy, Insulin-resistant diabetes mell... |
ORPHA:769 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Low-set ears, Congenital hip dislocation, Supernumerary nipple, Abnormal heart morphology, Patent... |
ORPHA:457279 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve stenosis, Aortic valve calcification, Hypoplastic left heart, Thoracic aorta calcifi... |
ORPHA:402075 |
| Prader-Willi Syndrome |
|
Precocious puberty, Small hand, Clinodactyly, Radial deviation of finger, Decreased response to g... |
OMIM:176270 |
| Larsen-Like Syndrome, Lethal Type |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:245650 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Hypoplasia of the ear cartilage, Broad thumb, Camptodactyly of finger, Large earlobe, Supernumera... |
ORPHA:1236 |
| Warburg Micro Syndrome 4 |
|
Micropenis, Decreased testicular size, Cryptorchidism, Microphthalmia |
OMIM:615663 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system morphology, Microphallus... |
ORPHA:468631 |
| Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency |
ORPHA:293173 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Anteverted ears, Clinodactyly, Syndactyly |
OMIM:618087 |
| Kabuki Syndrome 2 |
|
Natal tooth, Dental malocclusion, Micrognathia, Lower lip pit, Hypodontia, High palate, Cleft palate |
OMIM:300867 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Low-set ears, Abnormal helix morphology, Abnormally large globe, Abnormal ... |
ORPHA:2729 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Xerostomia, Ureterocele, Absence of Stensen duct, Duplicated collecting system, A... |
OMIM:129900 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem... |
OMIM:619269 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Dilatation of the renal pelvis, Short 5th toe, Hearing impairment, Cryptor... |
ORPHA:268261 |
| Costello Syndrome |
|
Low-set ears, Hypertrophic cardiomyopathy, Renal insufficiency, Mitral valve prolapse, Ventricula... |
OMIM:218040 |
| Blepharonasofacial Malformation Syndrome |
|
Abnormal pinna morphology, Cryptorchidism, Finger syndactyly, Hearing impairment |
ORPHA:1252 |
| Waldenström Macroglobulinemia |
|
Hepatomegaly, Renal insufficiency, Splenomegaly |
ORPHA:33226 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short distal phalanx of finger, Intrauterine growth retardation, Epiphyseal stippling, Talipes eq... |
ORPHA:86822 |
| Monosomy 9P |
|
Low-set ears, Atresia of the external auditory canal, Anotia, Abnormality of the tarsal bones, Ur... |
ORPHA:261112 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
| Cockayne Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Splenomegaly, Hyperuricemia, Pr... |
ORPHA:191 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hearing impairment... |
ORPHA:1647 |
| Orofaciodigital Syndrome Xiv |
|
Low-set ears, Occipital encephalocele, Broad hallux, Preaxial polydactyly, Unilateral renal hypop... |
OMIM:615948 |
| Hartsfield Syndrome |
|
Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencephaly, Ectrodacty... |
OMIM:615465 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Cryptorchidism, Microphthalmia |
ORPHA:363741 |
| Opitz Gbbb Syndrome |
|
Low-set ears, Umbilical hernia, Rectourethral fistula, Vesicoureteral reflux, Cryptorchidism, Ven... |
OMIM:300000 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Renal hypoplasia, Micromelia, Abnormal pelvis bone ossification, Preaxial hand polydactyly, Hydro... |
ORPHA:93271 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Low-set ears, Occipital encephalocele, Atresia of the external auditory canal, Meningoencephaloce... |
OMIM:236670 |
| Familial Mediterranean Fever |
|
Renal amyloidosis, Stage 5 chronic kidney disease, Splenomegaly, Hepatomegaly, Elevated circulati... |
OMIM:249100 |
| Diphallia |
|
Penoscrotal transposition, Gastrointestinal duplication, Bladder exstrophy, Duplicated colon, Abs... |
ORPHA:227 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... |
OMIM:135750 |
| Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:94089 |
| Rubinstein-Taybi Syndrome |
|
Low-set ears, Clubbing of toes, Broad thumb, Finger syndactyly, Hearing impairment, Abnormal dist... |
ORPHA:783 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Dysuria, Renal insufficiency |
ORPHA:35687 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Visceral Myopathy 1 |
|
Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal... |
OMIM:155310 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Aplasia of the thymus, Split hand, Phocomelia |
ORPHA:3004 |
| Cleidocranial Dysplasia 1 |
|
High, narrow palate, Narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal s... |
OMIM:119600 |
| Sepsis In Premature Infants |
|
Oliguria, Reversible renal failure, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive p... |
ORPHA:90051 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia |
OMIM:614402 |
| Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Long philtrum |
ORPHA:263463 |
| Kbg Syndrome |
|
Radial deviation of finger, Macrotia, Ulnar deviation of the 2nd finger, Cryptorchidism, Single t... |
OMIM:148050 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Ventricular septal defect, Ante... |
OMIM:181450 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Biventricular hypertrophy, Patent foramen ovale, Ventricular septal defect, Nephrolithiasis, Decr... |
OMIM:615474 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased urine output, Nephro... |
ORPHA:544482 |
| Pfeiffer Syndrome |
|
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda... |
ORPHA:710 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Small hand, Prominent antihelix, Short thumb, Annular pancreas, Hypog... |
OMIM:268400 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Subluxation of the small joints of the hand, Dysplasia of the femoral head, Bowing of the long bo... |
ORPHA:536471 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Bilateral microphthalmos, Cardiomyopathy, Um... |
ORPHA:33364 |
| Sotos Syndrome |
|
Small cell lung carcinoma, Hearing impairment, Cryptorchidism, Hip contracture, Ventricular septa... |
ORPHA:821 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
OMIM:264700 |
| Familial Osteodysplasia, Anderson Type |
|
Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Malar flattening, Abnor... |
ORPHA:2769 |
| Saethre-Chotzen Syndrome |
|
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... |
OMIM:101400 |
| Stolerman Neurodevelopmental Syndrome |
|
Cryptorchidism, Hypoplastic nipples, Clinodactyly of the 5th finger, Broad palm, Pectus excavatum... |
OMIM:618505 |
| Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Abnormality of the dentition, Natal tooth, Thick lower lip vermilion |
ORPHA:261652 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hematuria, Micropenis, Hypospadias |
OMIM:619475 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Microcolon, Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis |
OMIM:619362 |
| Rothmund-Thomson Syndrome |
|
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Selective tooth agenesis,... |
ORPHA:2909 |
| Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of ... |
ORPHA:83471 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria |
ORPHA:25 |
| Oculoskeletodental Syndrome |
|
Low posterior hairline, Protein-losing enteropathy, Macroglossia, Low anterior hairline |
OMIM:618440 |
| Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted teeth, Absent frontal... |
OMIM:311300 |
| Apert Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Narrow palate, Mandibular prog... |
ORPHA:87 |
| Zttk Syndrome |
|
Low-set ears, Unilateral renal agenesis, Small hand, Horseshoe kidney, Absent gallbladder, Ventri... |
OMIM:617140 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Hearing impairment, Cryptorchidism, Down-sloping shoulders, Posteriorly rotated ears, Broad palm,... |
OMIM:227330 |
| Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Widely spaced teeth, Delayed eruption of teeth, Thick lower lip vermilion |
OMIM:309900 |
| Goldberg-Shprintzen Syndrome |
|
Low-set ears, Small hand, Vesicoureteral reflux, Ventricular septal defect, Clinodactyly of the 5... |
OMIM:609460 |
| Shigellosis |
|
Acute kidney injury, Urethritis, Hyponatremia, Abnormal blood ion concentration, Hemolytic-uremic... |
ORPHA:810 |
| Incontinentia Pigmenti |
|
Deviation of finger, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Abnormal h... |
ORPHA:464 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Sandal gap, Widely spaced toes, Neonatal death, Mitten deformity, Clinodactyly of the 5th finger,... |
OMIM:609638 |
| Stevens-Johnson Syndrome |
|
Dysuria, Renal insufficiency, Abnormality of the urethra |
ORPHA:36426 |
| Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... |
ORPHA:95455 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, High, narrow palate, Bifid uvula, Aplastic clavicle, Finger syndactyly... |
ORPHA:2658 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth |
ORPHA:2348 |
| Camptobrachydactyly |
|
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... |
ORPHA:1319 |
| Autosomal Dominant Robinow Syndrome |
|
Abnormal penis morphology, High, narrow palate, Finger syndactyly, Micromelia, Umbilical hernia, ... |
ORPHA:3107 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Rodrigues Blindness |
|
Protruding ear, Microphthalmia |
OMIM:268320 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pulmonary hypoplasia, Overlapping toe, Contracture of the distal interphalangeal joint of the fin... |
ORPHA:83617 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Toxic Epidermal Necrolysis |
|
Dysuria, Renal insufficiency, Abnormality of the urethra |
ORPHA:537 |
| Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly o... |
ORPHA:2908 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Low-set ears, Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Supernumerary nipple, Cryptorchidism, Ventricular septal defect |
OMIM:617635 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Unilateral microphthalmos, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... |
ORPHA:989 |
| Mosaic Trisomy 20 |
|
Clinodactyly, Hearing impairment, Horseshoe kidney, Cryptorchidism, Abnormal mitral valve morphol... |
ORPHA:1724 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Cryptorchidism, Ventricular septal defect |
OMIM:619908 |
| Serotonin Syndrome |
|
Acute kidney injury |
ORPHA:43116 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Left ventricular hypertrophy, Hypertriglyceridem... |
OMIM:619127 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hypodontia, Mandibular... |
OMIM:101800 |
| Neuroocular Syndrome 1 |
|
Low-set ears, Cupped ear, Prominent fingertip pads, Tibial torsion, Umbilical hernia, Anterior cr... |
OMIM:619539 |
| Cockayne Syndrome B |
|
Abnormal auditory evoked potentials, Square pelvis bone, Hypoplasia of the iris, Hypoplastic ilia... |
OMIM:133540 |
| Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Abnormality of the urethra, Oral leukoplakia, Finger syndactyly, Camptodactyly of fin... |
ORPHA:2907 |
| Eisenmenger Syndrome |
|
Bacterial endocarditis, Increased mean corpuscular volume, Tetralogy of Fallot, Abnormal heart mo... |
ORPHA:97214 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Arachnodactyly, Talipes equinovarus, Thymus hyperplasia, Chylothorax |
OMIM:619036 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Narrow palate, Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long phil... |
OMIM:180700 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Low-set ears, Accessory spleen, Optic disc hypoplasia, Ventricular septal defect, Simple ear |
OMIM:619306 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Hydronephrosis, Anal atresia, Urethral atresia, Pulmonary hypoplasia |
OMIM:271520 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Hydronephrosis |
OMIM:619431 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Low-set ears, Ventricular septal defect |
OMIM:618325 |
| Gaucher Disease |
|
Hematuria, Proteinuria |
ORPHA:355 |
| Microphthalmia/Coloboma 9 |
|
Low-set ears, Macrotia, Microphthalmia |
OMIM:615145 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Hyposegmentation of neutro... |
OMIM:614800 |
| Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Stage 5 chronic kidney disease, Hyperlipidemia |
OMIM:608612 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Flared metaphysis, Ectopic anterior pituitary gland, Ventri... |
OMIM:620558 |
| Yellow Fever |
|
Acute kidney injury, Anuria, Pancreatic hyperplasia, Elevated circulating creatinine concentratio... |
ORPHA:99829 |
| Unilateral Polymicrogyria |
|
Stroke, Infantile sensorineural hearing impairment, Abnormal heart morphology, Pulmonary arteriov... |
ORPHA:268943 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... |
ORPHA:1323 |
| C Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Hypoplasia of the ear cartilage, Micromelia, Horses... |
ORPHA:1308 |
| Frontonasal Dysplasia 2 |
|
Low-set ears, Bilateral cryptorchidism, Encephalocele, Microphthalmia |
OMIM:613451 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
| Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease |
ORPHA:2752 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Microphthalmia |
OMIM:300952 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Ileal atresia, Secondary microcephaly, Jejunal atresia, Chordee, Urogenital sinus anomaly, Microp... |
OMIM:618820 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
High palate, Dysphagia, Pulmonary hypoplasia |
OMIM:616866 |
| Rapp-Hodgkin Syndrome |
|
2-3 toe cutaneous syndactyly, Bifid uvula, Palmoplantar keratoderma, Velopharyngeal insufficiency... |
OMIM:129400 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomerulonephritis |
OMIM:619525 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... |
OMIM:218330 |
| Congenital Myopathy 22B, Severe Fetal |
|
Tapered toe, Shoulder flexion contracture, Slender long bone, Elbow flexion contracture, Pleural ... |
OMIM:620369 |
| Lethal Congenital Contracture Syndrome 9 |
|
Joint contracture of the hand, Intrauterine growth retardation, Short umbilical cord, Talipes equ... |
OMIM:616503 |
| Gaucher Disease, Perinatal Lethal |
|
Intrauterine growth retardation, Neonatal death, Microcephaly, Dysphagia, Pulmonary hypoplasia |
OMIM:608013 |
| Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Ventricular septal defect, Sensorineural hearing impairment, Talipes equinovarus,... |
OMIM:194190 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Bifid uvula, Narrow palate, Natal tooth, Gingival overgrowth, Narrow mouth, Malar flattening, Hig... |
OMIM:123790 |
| Cockayne Syndrome A |
|
Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly, Micropenis |
OMIM:216400 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Abnormal heart morphology, Umbilical hernia, Large placenta, Ventricular septal defect |
ORPHA:254534 |
| Acrofrontofacionasal Dysostosis 1 |
|
Short distal phalanx of finger, Broad thumb, Acetabular dysplasia, Microphthalmia, Mixed hearing ... |
OMIM:201180 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematuria, Proteinuria |
ORPHA:99827 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormal tibia morphology, Genu valgum, M... |
ORPHA:363700 |
| Leigh Syndrome |
|
Generalized aminoaciduria, Methylmalonic aciduria, Macrotia, Hypertrophic cardiomyopathy, Renal t... |
ORPHA:506 |
| Orofaciodigital Syndrome Type 14 |
|
Postaxial foot polydactyly, Broad hallux, Bilateral cryptorchidism, Low-set, posteriorly rotated ... |
ORPHA:434179 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Congenital bilateral hip dislocation, Cryptorchidism, Syndactyly |
ORPHA:404451 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Spondylospinal Thoracic Dysostosis |
|
Pulmonary hypoplasia |
OMIM:601809 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Tented upper lip vermilion, Short philtrum, Mandibular prognathia, Delayed eruption of permanent ... |
ORPHA:521445 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Hearing impairment, Brachydactyly, Microphthalmia, ... |
ORPHA:364577 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Abnormality of the dentition, Natal tooth, Micrognathia, Narrow mouth, Malar... |
ORPHA:2108 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Toe clinodactyly, Recurrent pneumonia, Sandal gap, Umbilical hernia, Recurrent bronchitis, Ventri... |
OMIM:620330 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anomalous origin of left subclavian artery, Precocious puberty, Increased circulating prolactin c... |
ORPHA:438213 |
| Rothmund-Thomson Syndrome, Type 3 |
|
Short distal phalanx of finger, Talipes equinovarus, Short digit, Brachydactyly, Anisopoikilocyto... |
OMIM:615789 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Pulmonary hypoplasia |
OMIM:253310 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Glue ear, Finger syndactyly, Supernumerary nipple |
ORPHA:1433 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy |
ORPHA:465508 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
High, narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental morpho... |
ORPHA:369950 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Trichothiodystrophy 1, Photosensitive |
|
Protruding ear, Hypogonadism, Macrotia, Microphthalmia |
OMIM:601675 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Tibial bowing, Ventricular septal defect, Phthisis bulbi, Metaphyseal wideni... |
OMIM:259770 |
| Bloom Syndrome |
|
Recurrent upper respiratory tract infections, Elevated hemoglobin A1c, Type II diabetes mellitus,... |
OMIM:210900 |
| Pili Torti-Onychodysplasia Syndrome |
|
Cutaneous syndactyly, Palmoplantar keratoderma, Abnormal pinna morphology |
ORPHA:2890 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Blomstrand Lethal Chondrodysplasia |
|
Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morphology, Flared metaphy... |
ORPHA:50945 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, Atrial septal... |
ORPHA:26793 |
| Oculo-Palato-Cerebral Syndrome |
|
Small hand, Microphthalmia, Short foot, Thickened helices, Macrotia |
ORPHA:2714 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dilated cardiomyopathy, Palmoplantar keratoderma, Myofiber disarray, Patent foramen ovale, Ventri... |
OMIM:620519 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Narrow mouth, Submucous cl... |
OMIM:300990 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly |
ORPHA:79330 |
| Familial Adenomatous Polyposis 1 |
|
Carious teeth, Odontoma, Eruption failure, Supernumerary tooth |
OMIM:175100 |
| Traboulsi Syndrome |
|
Homocystinuria, Broad hallux, Short finger, Arachnodactyly, Cubitus valgus, Microphthalmia, Pectu... |
OMIM:601552 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Aplasia/Hypoplasia of the radius, Finger syndactyly, Apla... |
ORPHA:570 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Barber-Say Syndrome |
|
Wide mouth, Delayed eruption of teeth |
ORPHA:1231 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency |
ORPHA:79430 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Left ventricular noncomp... |
OMIM:300967 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Low-set ears, Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Cubitus val... |
OMIM:607721 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thick upper lip vermilion, Micrognathia, Thin upper lip vermilion, Cle... |
OMIM:247200 |
| Osteoglophonic Dysplasia |
|
Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Long philtrum, Malar flat... |
OMIM:166250 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Overlapping toe, Cryptorchidism, Ventricular septal defect, Proteinuria, Cere... |
OMIM:616682 |
| Rothmund-Thomson Syndrome Type 2 |
|
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... |
ORPHA:221016 |
| Chronic Graft Versus Host Disease |
|
Hematuria, Urinary bladder inflammation, Phimosis |
ORPHA:99921 |
| Aymé-Gripp Syndrome |
|
Proteinuria, Patent ductus arteriosus |
ORPHA:1272 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
2-3 toe cutaneous syndactyly, Low-set ears, Talipes equinovarus, Cutaneous syndactyly, Camptodact... |
OMIM:620029 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Broad femoral neck, Hearing impairment, Ventricular septal defect, Phthisis bulbi, Diaphyseal dys... |
OMIM:619727 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Dilatation of mesenteric artery, Transie... |
OMIM:610655 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Single ventricle, Adrenal hypoplasia, Ethmocephaly, Microphthalmia, Mic... |
OMIM:236100 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Abnormal earlobe morphology, Um... |
ORPHA:96191 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypoplasia of the maxilla, Micrognathia, Delayed eruption of teeth, Gingival overgrowth |
OMIM:259600 |
| Liver Disease, Severe Congenital |
|
Recurrent otitis media, Dilatation of the ventricular cavity, Ventricular septal defect, Pulmonar... |
OMIM:619991 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Polycythemia, Dilatation of mesenteric a... |
OMIM:187300 |
| Marburg Hemorrhagic Fever |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... |
ORPHA:99826 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:289157 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly |
ORPHA:171 |
| Familial Exudative Vitreoretinopathy |
|
Hearing impairment, Microphthalmia |
ORPHA:891 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Hydronephrosis, Vesicoureteral reflux, Dilatation of the renal pelvis |
OMIM:616580 |
| Rothmund-Thomson Syndrome Type 1 |
|
Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal ... |
ORPHA:221008 |
| Stickler Syndrome |
|
Bifid uvula, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Cleft upper lip, Open b... |
ORPHA:828 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Micrognathia, Natal tooth, Gingival overgrowth |
ORPHA:313855 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Vesicoureteral reflux, Microphthalmia |
OMIM:120200 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Widely spaced teeth, Gingival overgrowth, Alveolar ridge overgrowth, M... |
OMIM:301072 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Absent tragus, Conductive hearing impairment, Atresia of the external auditory canal, Cryptorchid... |
OMIM:603457 |
| Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Ureterocele, Short finger, Umbilical hernia, Broad phalanx of the toes, Ventr... |
ORPHA:1934 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Hydrocephalus, Microphthalmia |
OMIM:616538 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Polysplenia, Profound hearing impairment, Splenomegaly, Ventricular septal defe... |
OMIM:619418 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Low-set ears, Decreased serum testosterone concentration, Cryptorchidism, Renal cyst, Buphthalmos... |
ORPHA:495875 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney |
ORPHA:449432 |
| Larsen Syndrome |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... |
ORPHA:503 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Panhypopituitari... |
OMIM:610828 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hydrocephalus, Buphthalmos, Encephalocele, Microphthalmia |
OMIM:613150 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... |
ORPHA:2334 |
| Juvenile Polyposis Syndrome |
|
Rectocele, Gastrointestinal hemorrhage, Protein-losing enteropathy, Hematochezia, Colon cancer, S... |
ORPHA:2929 |
| Dubowitz Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth, Micrognathia, Submucous cleft hard palat... |
ORPHA:235 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Synostosis involving the 1st metacarpal, Supernumerary nipple, Bilateral cryptorchidism, Abnormal... |
ORPHA:466791 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Retrognathia, Open mouth, Deep philtrum, High palate |
ORPHA:1675 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Low-set ears, Hand clenching, Talipes equinovarus, Ventricular septal defect |
OMIM:614653 |
| Sclerosteosis 1 |
|
Abnormal pelvic girdle bone morphology, Deviation of finger, Hearing impairment, 2-3 finger synda... |
OMIM:269500 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Oculoauricular Syndrome |
|
Low-set ears, Absent earlobe, Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphth... |
OMIM:612109 |
| Scorpion Envenomation |
|
Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatine kinase MB... |
ORPHA:466677 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Abnormality of the thyroid gland, Abnormal mitral valve morphology, Pectus exc... |
ORPHA:1969 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Recurrent upper respiratory tract infect... |
OMIM:308205 |
| Aicardi Syndrome |
|
Precocious puberty, Recurrent pneumonia, Spina bifida, Microphthalmia, Proximal placement of thumb |
OMIM:304050 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Arteriovenous malformation, Abnormal cerebral vascular morphology, Transient isch... |
ORPHA:774 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect |
OMIM:614435 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Splenomegaly, Renal insufficiency, Glomerulonephritis |
ORPHA:3261 |
| Incontinentia Pigmenti |
|
Hypodontia, Conical tooth, Delayed eruption of teeth, Oligodontia |
OMIM:308300 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Advanced eruption of teeth, Micrognathia |
ORPHA:280365 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Pitt-Hopkins Syndrome |
|
Tooth malposition, Failure of eruption of permanent teeth, Abnormal palate morphology, Thick verm... |
ORPHA:2896 |
| Primary Sjögren Syndrome |
|
Tubulointerstitial nephritis, Renal insufficiency, Glomerulonephritis, Abnormality of the kidney |
ORPHA:289390 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... |
ORPHA:466650 |
| Coccidioidomycosis |
|
Abnormality of the bladder, Renal insufficiency, Abnormality of the kidney |
ORPHA:228123 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Tooth malposition, Abnormality of the dentition, Retrognathia, Thick lower lip vermilion, Persist... |
ORPHA:2785 |
| Aicardi Syndrome |
|
Precocious puberty, Small hand, Protruding ear, Delayed puberty, Hip dysplasia, Microphthalmia |
ORPHA:50 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Isolated Anencephaly |
|
Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Limb-Mammary Syndrome |
|
Toe syndactyly, Absent nipple, Oligodactyly, Breast aplasia, Aplasia of the ovary, Protruding ear... |
ORPHA:69085 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Palmar telangiectasia, Polycythemia, Transient ischemic attack, Ischemic stroke, Gastrointestinal... |
OMIM:600376 |
| Norrie Disease |
|
Abnormal helix morphology, Hypoplasia of the iris, Cryptorchidism, Venous insufficiency, Sensorin... |
ORPHA:649 |
| Sarcoidosis |
|
Nephrocalcinosis, Renal insufficiency, Nephrolithiasis, Hepatomegaly, Hypercalciuria, Tubulointer... |
ORPHA:797 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal hypertrophy, Small hand, Single transverse palmar crease, Ventricular septal d... |
OMIM:614947 |
| Mucopolysaccharidosis, Type Vi |
|
Macroglossia, Carious teeth, Delayed eruption of teeth |
OMIM:253200 |
| Melnick-Needles Syndrome |
|
Tooth malposition, Delayed eruption of teeth, Micrognathia, Obtuse angle of mandible, Cleft palate |
OMIM:309350 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Increased circulating gonadotropin level, Cupped ear, Microphthalmia |
OMIM:110100 |
| Zygomycosis |
|
Nephritis, Renal insufficiency |
ORPHA:73263 |
| Mpdu1-Cdg |
|
Decreased response to growth hormone stimulation test, Renal cortical cysts, Decreased serum insu... |
ORPHA:79323 |
| Gardner Syndrome |
|
Abnormality of the dentition, Multiple unerupted teeth, Supernumerary tooth, Odontoma |
ORPHA:79665 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Sensorineural hearing impairment, Hypogonadism, Microphthalmia |
OMIM:610651 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Low-set ears, Spontaneous pneumothorax, Type I diabetes mellitus, Pleural effusion, Pulmonary art... |
OMIM:606721 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum morphology, Intussusc... |
ORPHA:512 |
| Craniosynostosis And Dental Anomalies |
|
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ... |
OMIM:614188 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Elevated circulating creatine kinase co... |
OMIM:615287 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Splenomegaly |
ORPHA:117 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Gingival overgrowth, Delayed eruption of teeth |
ORPHA:508542 |
| Ramon Syndrome |
|
Narrow palate, Gingival fibromatosis, Delayed eruption of teeth |
OMIM:266270 |
| Kenny-Caffey Syndrome, Type 2 |
|
Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Anemia, Mi... |
OMIM:127000 |
| Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cardiomegaly, A... |
ORPHA:581 |
| Adnp Syndrome |
|
Thin upper lip vermilion, Smooth philtrum, Advanced eruption of teeth, Thick lower lip vermilion |
ORPHA:404448 |
| Johanson-Blizzard Syndrome |
|
Dilated cardiomyopathy, Situs inversus totalis, Cryptorchidism, Single transverse palmar crease, ... |
OMIM:243800 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Familial Adenomatous Polyposis |
|
Abnormal cementum morphology, Abnormality of the dentition, Eruption failure, Odontoma, Supernume... |
ORPHA:733 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Treacher Collins Syndrome 1 |
|
Conductive hearing impairment, Atresia of the external auditory canal, Bilateral microphthalmos, ... |
OMIM:154500 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Hearing impairment, Lacrimal gland hypoplasia, Absence of Stensen... |
OMIM:149730 |
| Norrie Disease |
|
Sensorineural hearing impairment, Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Retrognathia, Delayed eruption of teeth, Impacted tooth, Ankyloglossia, Persiste... |
ORPHA:740 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Calvarial osteosclerosis |
ORPHA:93325 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Widely spaced teeth, Dental crowding, Delayed eruption of primary teeth |
OMIM:617799 |
| Shwachman-Diamond Syndrome |
|
Carious teeth, Delayed eruption of teeth, Oral ulcer, Sinusitis |
ORPHA:811 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79444 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Pectus excavatum, Renal cortical cysts, Vesicoureteral reflux, Uplifted earlobe |
OMIM:618548 |
| Holoprosencephaly 2 |
|
Anterior pituitary agenesis, Alobar holoprosencephaly, Semilobar holoprosencephaly, Single ventri... |
OMIM:157170 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Sensorineural hearing impairment, Microphthalmia |
OMIM:278730 |
| Leptospirosis |
|
Acute kidney injury, Hepatomegaly, Hyperproteinemia, Cellular urinary casts |
ORPHA:509 |
| Pmm2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating prolactin c... |
ORPHA:79318 |
| Scalp-Ear-Nipple Syndrome |
|
Abnormality of the dentition, Delayed eruption of teeth |
ORPHA:2036 |
| Listeriosis |
|
Acute kidney injury, Pyelonephritis |
ORPHA:533 |
| Congenital Disorder Of Glycosylation, Type If |
|
Renal cortical cysts |
OMIM:609180 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Tukel Syndrome |
|
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly |
OMIM:609428 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Overfolded helix, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5... |
ORPHA:1974 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Tooth abscess, Delayed eruption of teeth |
ORPHA:289176 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Dilation of Virchow-Robin spaces, Hypoplasia of the iris, Retinal arteriolar tortuosity, Cerebral... |
OMIM:175780 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria |
OMIM:614231 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
| Pseudohypoparathyroidism Type 1A |
|
Enamel hypoplasia, Delayed eruption of teeth |
ORPHA:79443 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia |
ORPHA:91495 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Split hand, Finger syndactyly, Cleft palate |
ORPHA:1300 |
| Adult Syndrome |
|
Toe syndactyly, Absent nipple, Finger syndactyly, Breast hypoplasia, Hypoplastic nipples, Split foot |
ORPHA:978 |
| Wrinkly Skin Syndrome |
|
Carious teeth, Microretrognathia, Delayed eruption of teeth, Long philtrum, Microdontia, Smooth p... |
OMIM:278250 |
| Dpagt1-Cdg |
|
Clinodactyly, Arachnodactyly, Microcephaly, Camptodactyly, Pulmonary hypoplasia |
ORPHA:86309 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Acute Liver Failure |
|
Acute kidney injury, Hyperammonemia |
ORPHA:90062 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Microphthalmia |
OMIM:221900 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:365 |
| Wrinkly Skin Syndrome |
|
Carious teeth, Delayed eruption of teeth, Long philtrum, Smooth philtrum, Small, conical teeth, H... |
ORPHA:2834 |
| Camurati-Engelmann Disease |
|
Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth |
ORPHA:1328 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Linear Nevus Sebaceus Syndrome |
|
Adenoma sebaceum, Microphthalmia |
ORPHA:2612 |
| African Trypanosomiasis |
|
Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Urinary incontinence |
ORPHA:3385 |
| Isolated Arrhinia |
|
Microtia, Microphthalmia |
ORPHA:1134 |
| Singleton-Merten Syndrome 1 |
|
Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up... |
OMIM:182250 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Microdontia, Hypoplasia of the dental root, Hypoplasia of the nasal bone, ... |
ORPHA:93357 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Aplasia/Hypoplasia involving the shoulder musculature, High palate, Unilateral brachydactyly, Syn... |
ORPHA:1521 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly |
OMIM:620376 |
| Wiedemann-Rautenstrauch Syndrome |
|
Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Retrognathia, Narrow mout... |
ORPHA:3455 |
| Blau Syndrome |
|
Nephropathy, Stage 5 chronic kidney disease, Clear cell renal cell carcinoma, Splenomegaly |
ORPHA:90340 |
| Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomegaly |
ORPHA:51 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Hydrocephalus, Hypoplasia of the retina, Microphthalmia |
OMIM:253280 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:256040 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease |
ORPHA:642 |
| Alström Syndrome |
|
Chronic kidney disease, Detrusor sphincter dyssynergia, Functional abnormality of the bladder, Ur... |
ORPHA:64 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
| Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification |
ORPHA:51608 |
| Bent Bone Dysplasia Syndrome 2 |
|
Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Femoral bowing... |
OMIM:620076 |
