Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Gastric Cancer |
|
Stomach cancer, Increased level of L-fucose in urine |
OMIM:613659 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas... |
OMIM:614876 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly, Cataract, High palate, Epiphyseal stippling |
OMIM:614882 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Galactosemia Ii |
|
Cataract, Galactosuria, Prolonged neonatal jaundice |
OMIM:230200 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Intrauterine growth retardation, Hypertroph... |
OMIM:614702 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion |
OMIM:613885 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Endocardial fi... |
ORPHA:60041 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis |
OMIM:613490 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Tetralogy of Fallot, ... |
ORPHA:1381 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Congenital Pulmonary Lymphangiectasia |
|
Hydrops fetalis, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites |
ORPHA:2414 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Cataract, Splenomegaly, Jaundice, Aminoaciduria |
ORPHA:79238 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Abnormal gastric mucosa morphology, Jaundice, Biliary tract... |
ORPHA:234 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Decreased liver function, Cholestasis |
ORPHA:570422 |
Senior-Loken Syndrome |
|
Cataract, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Ab... |
ORPHA:3156 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Ascites, Abnormal cardiac septum morphology, Edema |
OMIM:608776 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Muscular ventricular septal defect, ... |
OMIM:115197 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Abnormal stomach morphology |
ORPHA:281090 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Cleft palate |
OMIM:120433 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly |
OMIM:273680 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Atrial septal defect, Pericardial effusion, Multiple muscular ventricular septal defects, Polyhyd... |
OMIM:620070 |
3-Methylglutaconic Aciduria Type 4 |
|
Cataract, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Iris hypopigment... |
ORPHA:67048 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomy... |
OMIM:619313 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Hypocomplementemic Urticarial Vasculitis |
|
Abnormal heart valve morphology, Pericardial effusion, Angioedema, Pleural effusion, Ascites |
ORPHA:36412 |
Congenital Enterovirus Infection |
|
Fetal ascites, Polyhydramnios, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Polyhydramnios, Edema, Cardiomegaly, Pericardia... |
ORPHA:363705 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Cardiomyopathy, Cirrhosis, Hepatic steatosis |
OMIM:606069 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal pericardium morphology, Abnormal stomach morphology, Dys... |
ORPHA:2357 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... |
OMIM:261740 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Pericarditis |
ORPHA:231111 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Pleural effusion, Hydrocephalus, Edema |
OMIM:617822 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure, Pyloric stenosis |
ORPHA:664 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Cataract, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase con... |
OMIM:618805 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract, Ventricular septal defect, Ectopic kidney, Cystic renal dysplasia |
OMIM:613730 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity, Cleft palate |
ORPHA:90654 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... |
ORPHA:2869 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cataract, Malabsorption, Splenomegaly, Furrowed tongue, Hamar... |
ORPHA:2930 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Ventricular s... |
OMIM:618775 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Primary Intestinal Lymphangiectasia |
|
Edema, Pericardial effusion, Pleural effusion, Ascites, Generalized edema |
ORPHA:90362 |
Cardiomyopathy, Dilated, 1A |
|
Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Cataract, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality... |
ORPHA:92050 |
Triploidy |
|
Hepatomegaly, Hypoplasia of penis, Cataract, Hypospadias, Intestinal malrotation, Abnormality of ... |
ORPHA:3376 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Edema, Pericardial effusion, Left ventricular hypertrophy, Intrauterine growth reta... |
OMIM:619487 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:93552 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma |
OMIM:619182 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:612138 |
Weill-Marchesani Syndrome |
|
Cataract, Ventricular septal defect, Ectopia lentis, Pulmonic stenosis, Aortic valve stenosis |
ORPHA:3449 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Pyloric stenosis, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri... |
OMIM:618280 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Corneal opacity,... |
ORPHA:912 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Gaucher Disease Type 1 |
|
Pericardial effusion, Abnormal myocardium morphology, Ascites, Pedal edema |
ORPHA:77259 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, Atrial septal defect, Pa... |
ORPHA:26793 |
Galactosemia I |
|
Hepatomegaly, Cataract, Elevated circulating aspartate aminotransferase concentration, Elevated c... |
OMIM:230400 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Pericardial effusion, Abnormal myocardium morphology, Dilated cardiomyopathy |
ORPHA:300751 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Cardiomyopathy |
OMIM:212065 |
Poems Syndrome |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:2905 |
Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Hypospadias, Craniosynostosis, Abnormality of the abdominal organs, ... |
ORPHA:2409 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Keratoconjunctivitis sicc... |
ORPHA:779 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Intestinal malrotation, ... |
ORPHA:2538 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Pleural effusion, Pedal edema, Pulmonary edema |
ORPHA:199241 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Corneal dystrophy, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, Hemat... |
ORPHA:1839 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Barrett esophagus, Cataract |
ORPHA:523 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Rena... |
ORPHA:480536 |
Mednik Syndrome |
|
Cataract, Jejunal atresia, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon |
OMIM:609313 |
Q Fever |
|
Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Endocarditis, P... |
ORPHA:781 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Umbilical hernia, Mitral valve prolapse |
ORPHA:536532 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Alg9-Cdg |
|
Ventricular septal defect, Pericardial effusion, Hydrops fetalis, Abnormal heart morphology, Righ... |
ORPHA:79328 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Reduced bone mineral density |
ORPHA:2617 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Gaucher Disease Type 3 |
|
Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aortic valve c... |
ORPHA:77261 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis, Patent ductus arteriosus, Hydrocephalus |
ORPHA:1272 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Pleural effusion |
ORPHA:464329 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst... |
ORPHA:488618 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma... |
OMIM:300048 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Abnormal heart valve morphology, Gastroesophageal reflux |
ORPHA:98892 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Pyloric stenosis, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis |
OMIM:179010 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Gastric hypertrophy, Osteolytic defects of the phalang... |
OMIM:161700 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema... |
OMIM:203780 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... |
ORPHA:141127 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites |
ORPHA:2136 |
3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Sclerocornea, Craniosynostosis, Cleft palate, Ectopic anus, ... |
ORPHA:251038 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Ne... |
ORPHA:512 |
Stromme Syndrome |
|
Accessory spleen, Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Bilateral rena... |
OMIM:243605 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Cataract, Esophageal stenosis, Proteinuria, Hypoperistalsis, Keratitis, Esophageal neoplasm, Chro... |
ORPHA:1018 |
Aicardi-Goutieres Syndrome 7 |
|
Edema, Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Oligoh... |
OMIM:615846 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Iris hypopigmentation |
ORPHA:381 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
ORPHA:167 |
Lymphangioleiomyomatosis |
|
Lymphedema, Hydrocephalus, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Atrial septal defect, ... |
OMIM:139210 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Urethrovesical occlusion, Esophageal atresia, Axillary pterygium, Congenital pyloric atresia |
OMIM:226730 |
Dent Disease |
|
Delayed epiphyseal ossification, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight proteinuri... |
ORPHA:1652 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Asplenia, Hepatitis, Keratoconjunctivitis, Chronic hepatitis, Cirrhos... |
OMIM:269200 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Pyloric stenosis, Cleft palate, Abn... |
ORPHA:261197 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cataract, Sclerocornea, Hypospadias, Cleft palate, M... |
OMIM:309801 |
Muir-Torre Syndrome |
|
Neoplasm of the liver, Colon cancer, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Pulmonary edema |
ORPHA:73224 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Microcornea, Vesicoureteral reflux, Atrial septal defect, A... |
OMIM:118450 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Malabsorption, Splenomegaly, Pyloric stenosis, Tracheoesophageal fis... |
ORPHA:379 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Pyl... |
OMIM:256300 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Cataract, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease... |
OMIM:308940 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
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Osteopenia, Cataract, Pyloric stenosis, Developmental glaucoma, Osteoporosis |
OMIM:614438 |
Norrie Disease |
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Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hematuria, Ureteroc... |
ORPHA:79403 |
Tsh-Secreting Pituitary Adenoma |
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Pericardial effusion |
ORPHA:91347 |
Knobloch Syndrome |
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Cataract, Dextrocardia, Ectopia lentis, Pyloric stenosis, Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Py... |
ORPHA:93111 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Cataract, Band keratopathy, Malabsorption, Bicarbonaturia, Bicarbonate-wasting... |
ORPHA:47159 |
Meckel Syndrome |
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Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Pancreatic fibros... |
ORPHA:564 |
Gitelman Syndrome |
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Pericardial effusion |
ORPHA:358 |
Crimean-Congo Hemorrhagic Fever |
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Pericardial effusion, Myocarditis, Ascites |
ORPHA:99827 |
Aniridia 1 |
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Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Sarcoidosis, Susceptibility To, 1 |
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Pericardial effusion, Pleural effusion |
OMIM:181000 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Polyhydramnios, Edema, Pericardial effusion, Cardiomegaly, Hydrops fetal... |
ORPHA:51608 |
Esophageal Atresia |
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Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Pyloric stenosis, Gastroint... |
ORPHA:1199 |
Williams Syndrome |
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Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Rectal prolapse, Nephrocalc... |
ORPHA:904 |
Autosomal Recessive Cutis Laxa Type 1 |
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Cataract, Pyloric stenosis, Dilatation of the ventricular cavity, Pyelonephritis, Urethral divert... |
ORPHA:90349 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Abnormality of the urethra, Congenital pyloric atresia, Ureterocele, Glomerular sclerosis, Hydron... |
ORPHA:158684 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, Right ventricular dilatation, High palate, Gastroesophage... |
OMIM:619472 |
Knobloch Syndrome 2 |
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Pyloric stenosis, Anterior cortical cataract |
OMIM:618458 |
Pmm2-Cdg |
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Pericarditis, Lymphedema, Pericardial effusion, Anasarca, Hypertrophic cardiomyopathy |
ORPHA:79318 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
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Intrauterine growth retardation, Severe short stature |
ORPHA:468631 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
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Mild short stature, Short stature |
OMIM:614833 |