| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
| Hanac Syndrome |
|
Renal insufficiency, Hematuria, Multiple renal cysts |
ORPHA:73229 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu... |
OMIM:616818 |
| Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
| Failure Of Tooth Eruption, Primary |
|
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth |
OMIM:125350 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:613944 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
| Uridine-Cytidineuria |
|
Elevated urinary cytidine, Elevated urinary uridine level |
OMIM:618477 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Microscopic hematuria |
ORPHA:2613 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Hypomature dental enamel |
OMIM:613211 |
| Amelogenesis Imperfecta, Type Iiib |
|
Amelogenesis imperfecta, Enamel hypomineralization |
OMIM:617607 |
| Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri... |
OMIM:614196 |
| Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:613237 |
| Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:614131 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Proteinuria, Microscopic hematuria |
OMIM:161900 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
| Amelogenesis Imperfecta, Type Ij |
|
Enamel hypoplasia, Widely spaced teeth, Carious teeth, Amelogenesis imperfecta, Increased overbite |
OMIM:617297 |
| Sedoheptulokinase Deficiency |
|
Increased urinary sedoheptulose |
OMIM:617213 |
| Hydroxyprolinemia |
|
Microscopic hematuria |
OMIM:237000 |
| Gigantiform Cementoma, Familial |
|
Multiple impacted teeth, Cementoma, Tooth malposition |
OMIM:137575 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
| Regional Odontodysplasia |
|
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... |
ORPHA:83450 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
| Complement Factor H Deficiency |
|
Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr... |
OMIM:609814 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion |
OMIM:617217 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Dentin Dysplasia, Type I |
|
Enamel hypoplasia, Microdontia, Oligodontia, Taurodontia, Pulp obliteration, Periapical bone loss... |
OMIM:125400 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Nephropathy, Proteinuria |
ORPHA:419 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria |
OMIM:161950 |
| Impacted Teeth, Multiple |
|
Multiple impacted teeth, Supernumerary tooth |
OMIM:308280 |
| Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
| Amelogenesis Imperfecta, Type Iiia |
|
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion |
OMIM:130900 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Gingival fibromatosis, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2027 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome |
OMIM:614199 |
| Amelogenesis Imperfecta |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... |
ORPHA:88661 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Renal cyst, Hypospadias, Right aortic a... |
OMIM:231060 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio... |
OMIM:204700 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
| Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros... |
OMIM:603965 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic... |
ORPHA:54370 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Congenital Primary Megaureter |
|
Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,... |
ORPHA:617 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... |
OMIM:616749 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Dentinogenesis imperfecta, Odontodysplasia, Periapical bone loss, Anterior op... |
OMIM:125500 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
| Nephrotic Syndrome, Type 15 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant... |
OMIM:617609 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Enamel hypoplasia, Generalized microdontia, Taurodontia, Amelogenesis imperfecta |
OMIM:104530 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
| Dentin Dysplasia, Type Ii |
|
Abnormal dentin morphology, Pulp calcification, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125420 |
| Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... |
OMIM:600995 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Alveolar process hypoplasia, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphol... |
ORPHA:2972 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease |
OMIM:602114 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas... |
OMIM:615008 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Hypomature enamel, Anterior open-bite malocclusion, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Anterior open-bite malocclusion, Yel... |
OMIM:618386 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Proteinuria, Hematuria |
ORPHA:2134 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Ectopic kidney, Dislocated r... |
ORPHA:401935 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
| Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology... |
ORPHA:84090 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Taurodontia, Amelogenesis imperfecta, Anterior open-bite malocclusion,... |
OMIM:204650 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst... |
OMIM:256100 |
| Nephronophthisis 20 |
|
Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff... |
OMIM:617271 |
| Nephronophthisis 16 |
|
Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp... |
OMIM:615382 |
| Microphthalmia, Syndromic 9 |
|
Truncus arteriosus, Pulmonary hypoplasia, Anophthalmia, Ventricular septal defect, Bilateral lung... |
OMIM:601186 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Abnormal aortic morphology, Ventricular septal defect, Renal hypoplasia/ap... |
ORPHA:1166 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Micrognathia, Multiple unerupted teeth, Crowded maxillary incisors |
OMIM:183300 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613913 |
| Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... |
ORPHA:185 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, ... |
OMIM:616221 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Crypt hyperplasia, Villous atrophy |
OMIM:613217 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Aplasia/hypoplasia involving ... |
ORPHA:3384 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:604387 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:618913 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Enamel hypoplasia, Abnormality of dental color, Amelogenesis imperfecta |
OMIM:616270 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal cardiac septum morphology, Renal agenesis, Upper limb phocomelia, Syndactyl... |
ORPHA:294975 |
| Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b... |
OMIM:266900 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts |
OMIM:609886 |
| RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
| Nephrotic Syndrome, Type 22 |
|
Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr... |
OMIM:619155 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne... |
OMIM:606966 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Amelogenesis Imperfecta, Type Ie |
|
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dentin morp... |
OMIM:301200 |
| Diabetic Embryopathy |
|
Abnormal aortic morphology, Aplasia/Hypoplasia affecting the eye, Spinal dysraphism, Ventricular ... |
ORPHA:1926 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposition of the gre... |
OMIM:613751 |
| Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ren... |
OMIM:617478 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency |
OMIM:615987 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ... |
OMIM:220100 |
| Otodental Dysplasia |
|
Enamel hypoplasia, Long philtrum, Delayed eruption of teeth, Pulp calcification, Taurodontia, Age... |
OMIM:166750 |
| Nephronophthisis 14 |
|
Nephronophthisis, Polycystic kidney dysplasia |
OMIM:614844 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate... |
OMIM:618061 |
| Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... |
OMIM:217095 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... |
OMIM:613854 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Hematuria, Membranoproliferative glomerulonephritis, Polycystic ovaries, Prot... |
OMIM:608709 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect, Renal hypoplasia/aplas... |
ORPHA:2516 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
| Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc... |
OMIM:610725 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... |
ORPHA:860 |
| Xanthinuria, Type Ii |
|
Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... |
OMIM:603592 |
| Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro... |
OMIM:614723 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Patent ductus arteriosus, Maternal diabetes, Abnormal tricuspid valve morphology, Pulmonary arter... |
ORPHA:1208 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Hydranencephaly, Short ... |
OMIM:601355 |
| Amyloidosis, Familial Visceral |
|
Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:105200 |
| Hyperoxaluria, Primary, Type Ii |
|
Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria |
OMIM:260000 |
| Heart Defects-Limb Shortening Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormality of the pulmonary artery,... |
ORPHA:1354 |
| Focal Segmental Glomerulosclerosis 1 |
|
Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Interrupted aortic arch, Hypoplastic... |
ORPHA:1727 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Nephronophthisis 7 |
|
Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease |
OMIM:611498 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria... |
OMIM:612925 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ... |
OMIM:602088 |
| Gombo Syndrome |
|
Clinodactyly, Delayed puberty, Radial deviation of finger, Abnormal heart morphology, Microphthal... |
OMIM:233270 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Coarctation of aorta, Hypo... |
ORPHA:1209 |
| Primary Condylar Hyperplasia |
|
Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno... |
ORPHA:477781 |
| Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr... |
OMIM:614650 |
| Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
| Bardet-Biedl Syndrome 18 |
|
Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Sensorineural hearing impairment, Decreased testicular size, Bilat... |
ORPHA:2326 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Hematuria |
OMIM:314000 |
| Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glo... |
OMIM:614377 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Horseshoe k... |
OMIM:617805 |
| Diarrhea 12, With Microvillus Atrophy |
|
Microvillus inclusions, Microvillar PAS-positive secretory granules, Villous atrophy |
OMIM:619445 |
| Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Conductive hearing impairment, Myelomeningocele, Ve... |
ORPHA:2876 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Hypertrichosis Lanuginosa Congenita |
|
Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth |
ORPHA:2222 |
| Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612926 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency |
OMIM:615991 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Ventricular septal defect, Vascular ring, Hydrocephalus, Atrial septal de... |
OMIM:603387 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa ... |
ORPHA:103907 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,... |
OMIM:612924 |
| Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri... |
ORPHA:567544 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
| Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
| Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria... |
OMIM:618349 |
| Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Bronchiectasis, Situs inversus totalis, Dextrocardia, Right aortic arch, Hearing ... |
OMIM:617577 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ... |
OMIM:613095 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
| Hypouricemia, Renal, 1 |
|
Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot... |
ORPHA:839 |
| Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Hand clenching, Ventricular septal defect, Interrupted aortic arch, Micr... |
OMIM:616920 |
| Feingold Syndrome Type 1 |
|
2-3 toe syndactyly, Conductive hearing impairment, Renal dysplasia, Toe syndactyly, Short middle ... |
ORPHA:391641 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Encephalocele, Anophthalmia, Pericardial effusion, Enlarged kidney, Polycystic kidne... |
OMIM:613885 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Multiple small medullary renal cysts, Enlarged kidney, Polycystic kidney dyspla... |
OMIM:263200 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... |
OMIM:613759 |
| Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Alveolar process hypoplasia, Eruption failure, Delayed eruption of primary teeth, Multiple non-er... |
OMIM:273050 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:619702 |
| Adams-Oliver Syndrome 6 |
|
Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Syndactyly, Brachydactyly, Rena... |
OMIM:616589 |
| Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Hematuria, Abnormal renal physiology, Chronic kidney disease |
OMIM:123550 |
| Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Hyperthyroidism, Truncus arteriosus, Ventricular septal defect, Hallux v... |
ORPHA:2008 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Pulmonary hypoplasia, Pectus excavatum, Overlapping toe, Cutaneous syndactyly, Posteriorly rotate... |
OMIM:618316 |
| Seckel Syndrome 9 |
|
Ventricular septal defect, Recurrent urinary tract infections, Protruding ear, Atrial septal defe... |
OMIM:616777 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ... |
ORPHA:3426 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect... |
ORPHA:976 |
| 1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Sensorineural hearing impairment, Abnormal cardi... |
ORPHA:250989 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Villous atrophy |
OMIM:615863 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, 2-3 toe syndactyly, Aortopulmonary window, Ventricular septal defect, Finge... |
OMIM:620025 |
| Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... |
OMIM:618780 |
| Pagod Syndrome |
|
Meningocele, Abnormal aortic morphology, Multicystic kidney dysplasia, Encephalocele, Abnormal te... |
ORPHA:991 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Short long bone, Bilateral renal agenesi... |
OMIM:618845 |
| Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Absent thumb, Truncus arteriosus, Ventricular septa... |
OMIM:617516 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome |
OMIM:617006 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocalcinosis, Reduced r... |
OMIM:611555 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Renal hypoplasia, Pulmo... |
OMIM:612946 |
| Camos Syndrome |
|
Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
| Rutherfurd Syndrome |
|
Delayed eruption of primary teeth, Failure of eruption of permanent teeth |
OMIM:180900 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Cardiac-Urogenital Syndrome |
|
2-3 toe syndactyly, Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypop... |
OMIM:618280 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... |
OMIM:619902 |
| Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
| Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat... |
OMIM:162000 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
| Trisomy 13 |
|
Patent ductus arteriosus, Abnormal antihelix morphology, Sensorineural hearing impairment, Anopht... |
ORPHA:3378 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Anemia, Sensorineural hearing impairment, Ventricular septal defect, Ap... |
ORPHA:290 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia, Hepatomegaly |
OMIM:614859 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... |
ORPHA:85450 |
| C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro... |
ORPHA:329918 |
| Cardiac Diverticulum |
|
Bicuspid pulmonary valve, Pulmonary artery stenosis, Endocarditis, Patent foramen ovale, Ventricu... |
ORPHA:1686 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
| Dentinogenesis Imperfecta |
|
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Selective tooth agenesi... |
ORPHA:49042 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Truncus arteriosus, Enlarged kidney, Cystic renal dysplasia, Abnormal lung lobation, Pu... |
OMIM:615415 |
| Bardet-Biedl Syndrome 16 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal insufficiency |
OMIM:615993 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Asplenia, Left atrial isomerism, Bi... |
OMIM:605376 |
| Mosaic Trisomy 1 |
|
Camptodactyly of finger, Renal cortical cysts, 2-3 finger syndactyly, Toe syndactyly, Elbow flexi... |
ORPHA:1692 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno... |
OMIM:145001 |
| Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ... |
OMIM:615244 |
| Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency |
ORPHA:1909 |
| Nephronophthisis-Like Nephropathy 2 |
|
Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati... |
OMIM:619468 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Polycystic kidney dysplasia, Renal angiomyolipoma |
OMIM:600273 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
| Adams-Oliver Syndrome 4 |
|
Patent ductus arteriosus, Short toe, Aplasia of the distal phalanges of the toes, Ventricular sep... |
OMIM:615297 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Pulmonary hypoplasia, Microphth... |
OMIM:615524 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Elevated circula... |
OMIM:614455 |
| Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hematuria, Recurrent urinary tract infections |
ORPHA:284400 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Cardiac total anomalous pulmonary venous connection, Ventricular septal... |
OMIM:608978 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Interru... |
ORPHA:1457 |
| Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth |
ORPHA:2266 |
| Lesch-Nyhan Syndrome |
|
Renal insufficiency, Hematuria |
ORPHA:510 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... |
OMIM:220210 |
| Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... |
OMIM:618594 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Cleft palate, Abnormal mandible morphology, Natal tooth |
OMIM:217150 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Jaw swel... |
ORPHA:83451 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency |
OMIM:173900 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Truncus arteriosus, Renal dysplasia, Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Mu... |
ORPHA:2538 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal hand morphology, Short 5th metacarpal, Bicuspid aortic valve, ... |
ORPHA:228190 |
| Johnson Neuroectodermal Syndrome |
|
Patent ductus arteriosus, Conductive hearing impairment, Ventricular septal defect, Microtia, Dec... |
OMIM:147770 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613779 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Spinal dysraphism, Encephalocele, Ventricular septa... |
ORPHA:1908 |
| Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Short foot, Microtia, Sm... |
OMIM:300712 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Unilateral ... |
OMIM:206920 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
2-3 toe syndactyly, Short 5th finger, Thrombocytopenia, Rocker bottom foot, Posteriorly rotated e... |
ORPHA:163979 |
| Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Unbalanced atrioventricular ca... |
OMIM:619657 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Proteinuria |
OMIM:245900 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Aortopu... |
ORPHA:99050 |
| Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatine kinase conce... |
OMIM:300555 |
| Glycogen Storage Disease X |
|
Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Glycogen Storage Disease Xi |
|
Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... |
OMIM:612933 |
| Humero-Radio-Ulnar Synostosis |
|
Aplasia/Hypoplasia of the thumb, Elbow ankylosis, Abnormal metacarpal morphology, Abnormality of ... |
ORPHA:3266 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Asplenia, Abdominal situs inversus, B... |
OMIM:306955 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine concentration, Focal segm... |
OMIM:617056 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Interrupted aortic arch, Double aortic arch, Abnormality of the hand, ... |
OMIM:192430 |
| Cystinuria |
|
Renal insufficiency, Hematuria, Nephrolithiasis |
ORPHA:214 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome |
OMIM:249660 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Hypoalbuminemia, Nephrotic syndrome |
OMIM:614652 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome |
ORPHA:220 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Hydrocele testis, Atrial sept... |
OMIM:601927 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy... |
OMIM:143400 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, 2-3 toe syndactyly, Macrotia, Clubbing o... |
ORPHA:3304 |
| Coach Syndrome 3 |
|
Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst... |
OMIM:619113 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
| Dentin Dysplasia With Sclerotic Bones |
|
Abnormality of the dentition, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Nephrosialidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome |
OMIM:256150 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Renal insufficiency, Myoglobinuria |
OMIM:255110 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Uric acid nephrolithiasis, Crystalluria, Hyperuricemia, Stage 4 chronic kidney disease, Acute kid... |
ORPHA:411536 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, C... |
OMIM:604381 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephropathy, Hematuria, Nephrolithiasis |
ORPHA:2196 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Splenomegaly, Hepatomegaly |
OMIM:615285 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Polyuria, Hyponatremia, Protein... |
OMIM:613845 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Atrioventricular canal defect, 2-3 toe syndactyly, Short 5th finger, Truncus arteriosus, Hip disl... |
ORPHA:508498 |
| Dextrocardia |
|
Pancreatic hypoplasia, Abnormal pulmonary situs morphology, Abnormality of abdominal situs, Hydro... |
ORPHA:1666 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria |
OMIM:610205 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Nephronophthisis 9 |
|
Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease |
OMIM:613824 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor... |
OMIM:602522 |
| Emanuel Syndrome |
|
Patent ductus arteriosus, Macrotia, Truncus arteriosus, Ventricular septal defect, Low-set ears, ... |
OMIM:609029 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Stage 5 chronic k... |
ORPHA:228302 |
| Dentin Dysplasia |
|
Abnormality of dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Enamel hypoplasia, Supernumerary tooth, Abnormal dental enamel morphology |
ORPHA:3196 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Trichohepatoenteric Syndrome 2 |
|
Trichorrhexis nodosa, Villous atrophy, Brittle hair, Woolly hair, Uncombable hair, Colitis, Spars... |
OMIM:614602 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Pulmonary hypoplasia, Nephropathy, Multiple renal cysts, Bilateral single t... |
ORPHA:3033 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Hematuria |
OMIM:611773 |
| Pseudotrisomy 13 Syndrome |
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2-3 toe syndactyly, Encephalocele, Ventricular septal defect, Hydrocephalus, Renal agenesis, Atri... |
OMIM:264480 |
| Ackerman Syndrome |
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Taurodontia, Broad philtrum |
OMIM:200970 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
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High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... |
ORPHA:2025 |
| Trisomy 1Q |
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Patent ductus arteriosus, Camptodactyly of finger, Multicystic kidney dysplasia, Congenital megau... |
ORPHA:261344 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
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Coxa valga, Optic nerve hypoplasia, Postaxial hand polydactyly, Deep palmar crease, Thrombocytope... |
OMIM:301056 |
| Alport Syndrome 3, Autosomal Dominant |
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Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:104200 |
| Myoglobinuria, Recurrent |
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Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Lcat Deficiency |
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Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
| Netherton Syndrome |
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Sparse eyebrow, Sparse scalp hair, Villous atrophy, Brittle hair, Brittle scalp hair, Abnormal in... |
OMIM:256500 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
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Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
| Cardiomyopathy, Dilated, 1S |
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Interstitial cardiac fibrosis, Perimembranous ventricular septal defect, Ebstein anomaly of the t... |
OMIM:613426 |
| Floating-Harbor Syndrome |
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Ivory epiphyses of the distal phalanges of the hand, Conductive hearing impairment, Congenital po... |
OMIM:136140 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... |
ORPHA:567548 |
| Floating-Harbor Syndrome |
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Conductive hearing impairment, Precocious puberty, Congenital posterior urethral valve, Dislocate... |
ORPHA:2044 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Atrioventricular canal defect, Asplenia, Pulmonary artery dilatation, Pleural effusion, Pulmonary... |
OMIM:265380 |
| Carnitine Palmitoyltransferase Ii Deficiency |
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Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:157 |
| Thrombotic Thrombocytopenic Purpura |
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Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria |
ORPHA:54057 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
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Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial... |
ORPHA:656 |
| Anti-Glomerular Basement Membrane Disease |
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Renal insufficiency, Glomerulopathy, Proteinuria, Hematuria |
ORPHA:375 |
| Hypodontia-Dysplasia Of Nails Syndrome |
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Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... |
ORPHA:2228 |
| Lessel-Kubisch Syndrome |
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Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:228308 |
| Synpolydactyly 1 |
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Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
| Preeclampsia |
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Acute kidney injury, Abnormality of the kidney, Polycystic ovaries, Elevated circulating creatini... |
ORPHA:275555 |
| Hereditary Xanthinuria |
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Uric acid nephrolithiasis, Crystalluria, Recurrent urinary tract infections, Acute kidney injury,... |
ORPHA:3467 |
| Nephrotic Syndrome, Type 1 |
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Renal tubular atrophy, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diff... |
OMIM:256300 |
| You-Hoover-Fong Syndrome |
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Vascular ring, Clinodactyly, Coarctation of aorta, Pectus excavatum, Double aortic arch, Brachyda... |
OMIM:616954 |
| Congenitally Corrected Transposition Of The Great Arteries |
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Bilateral superior vena cava with bridging vein, Abnormal left ventricular outflow tract morpholo... |
ORPHA:216694 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
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Hyperbilirubinemia, Increased serum bile acid concentration, Hepatomegaly, Proteinuria, Splenomeg... |
OMIM:620010 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
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Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Patent ductus arteriosus, Macrotia, Hypoplastic helices, Ventricular septal defect, Low-set ears,... |
OMIM:600460 |
| Frasier Syndrome |
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Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:136680 |
| Amelo-Onycho-Hypohidrotic Syndrome |
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Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
| Acitretin/Etretinate Embryopathy |
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Atrioventricular canal defect, Conotruncal defect, Hypoplasia of the thymus, Abnormality of the c... |
ORPHA:40366 |
| Skraban-Deardorff Syndrome |
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Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Combined Oxidative Phosphorylation Deficiency 34 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
| Hinman Syndrome |
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Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone... |
ORPHA:84085 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
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Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Urofacial Syndrome 2 |
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Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency... |
OMIM:615112 |
| Primary Ciliary Dyskinesia |
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Asplenia, Conductive hearing impairment, Bronchiectasis, Abnormal inferior vena cava morphology, ... |
ORPHA:244 |
| Hyperuricemia, Hprt-Related |
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Renal insufficiency, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn... |
OMIM:616730 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
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Renal cyst |
OMIM:138790 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
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Tetralogy of Fallot, Sensorineural hearing impairment, Ventricular septal defect, Peripheral pulm... |
OMIM:617992 |
| Adams-Oliver Syndrome |
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Leukopenia, Abnormality of the upper limb, Encephalocele, Absent toe, Finger syndactyly, Arteriov... |
ORPHA:974 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
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Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Generalized ... |
OMIM:231680 |
| Czeizel-Losonci Syndrome |
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Hypoplastic helices, 2-3 finger syndactyly, Pulmonary hypoplasia, Spina bifida occulta, 1-2 finge... |
ORPHA:2437 |
| Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
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Hypouricemia |
OMIM:307830 |
| Congenital Heart Defects, Multiple Types, 5 |
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Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Cayler Cardiofacial Syndrome |
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Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
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Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
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Renal cyst, Hepatic cysts |
OMIM:617874 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
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Conductive hearing impairment, Reduced proximal interphalangeal joint space, Abnormal palmar derm... |
ORPHA:3246 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
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Patent ductus arteriosus, Patent foramen ovale, Absent gallbladder, Pancreatic hypoplasia, Truncu... |
OMIM:600001 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
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Ileitis |
OMIM:618287 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
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Double outlet right ventricle, Patent foramen ovale, 2-3 toe syndactyly, Ventricular septal defec... |
ORPHA:477817 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Renal dysplasia, Toe syndactyly, Short femu... |
ORPHA:93323 |
| Galloway-Mowat Syndrome 5 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:617731 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... |
ORPHA:79233 |
| Keutel Syndrome |
|
Macrotia, Ventricular septal defect, Shortening of all distal phalanges of the fingers, Epiphysea... |
OMIM:245150 |
| Partial Atrioventricular Septal Defect |
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Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
| Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
| Emanuel Syndrome |
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Patent ductus arteriosus, Macrotia, Truncus arteriosus, Ventricular septal defect, Low-set ears, ... |
ORPHA:96170 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal circulating lipid concentration |
ORPHA:225 |
| 16P13.11 Microduplication Syndrome |
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Ventricular septal defect, Hand polydactyly, Atrial septal defect, Coarctation of aorta, Pectus e... |
ORPHA:261243 |
| Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Villous atrophy |
OMIM:600955 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Patent ductus arteriosus, Anophthalmia, Ventricular septal defect, Hydrocephalus, Hypoplasia of p... |
ORPHA:77298 |
| Polydactyly, Preaxial Ii |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
| Charge Syndrome |
|
Hypothyroidism, Gonadotropin deficiency, Secundum atrial septal defect, Lop ear, Holoprosencephal... |
OMIM:214800 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc... |
OMIM:614227 |
| Charge Syndrome |
|
Aortic arch aneurysm, Abnormal cardiac septum morphology, Anterior hypopituitarism, Holoprosencep... |
ORPHA:138 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Sensorineural hearing impairment, Truncus arteriosus, Ventricular septal... |
ORPHA:261330 |
| Acrorenal Syndrome |
|
Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology |
ORPHA:971 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Feingold Syndrome 1 |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Short toe, Asplenia, Ventricular septal defect, Int... |
OMIM:164280 |
| 22Q11.2 Deletion Syndrome |
|
Meningocele, Hypothyroidism, Conductive hearing impairment, Hypoplasia of the thymus, Truncus art... |
ORPHA:567 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Secondary Short Bowel Syndrome |
|
Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Aganglionic megacolo... |
ORPHA:954 |
