Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cataract |
ORPHA:79281 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, Cataract, 3-Methylglutaconic aciduria |
OMIM:619813 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Cataract, Stage 5 chronic kidney disease |
OMIM:615995 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613885 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... |
OMIM:615415 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... |
OMIM:278760 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal defect, Ectopic kidney, Cystic rena... |
OMIM:613730 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Persistent ... |
ORPHA:1067 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Morm Syndrome |
|
Micropenis, Cataract, Abnormality of the kidney, Retinal atrophy |
ORPHA:75858 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain di... |
OMIM:608836 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Posterior embryotoxon, I... |
ORPHA:1473 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Tetralogy of Fallot |
ORPHA:1381 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Optic atrophy, Nephrotic syndrome, Focal segmental glome... |
OMIM:617303 |
Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Chronic kidney disease, Stage 5 chronic kidney dis... |
ORPHA:3156 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Cataract 47 |
|
Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u... |
OMIM:278740 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Cataract |
ORPHA:79238 |
Mulibrey Nanism |
|
Hepatomegaly, Corneal dystrophy, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Astig... |
OMIM:253250 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricula... |
OMIM:261740 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venou... |
OMIM:608978 |
Refsum Disease, Classic |
|
Cataract, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Retinal degeneration |
OMIM:266500 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy |
ORPHA:1369 |
Neuroendocrine Neoplasm Of Appendix |
|
Mechanical ileus, Functional intestinal obstruction, Midgut malrotation, Ovarian neoplasm, Intest... |
ORPHA:100079 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration |
OMIM:614292 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Ureteral atresia, Stage ... |
OMIM:208540 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Optic disc drusen, Pigmentary retinopathy, Hyperthreoninuria |
OMIM:204000 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma |
ORPHA:231736 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... |
ORPHA:424016 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Cataract, 3-Methylglutaconic aciduria, Iris hypopigmentation |
ORPHA:67048 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Ventricular septal defect, Abnormal ri... |
ORPHA:500095 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cataract, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomega... |
OMIM:256550 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Optic atrop... |
ORPHA:505248 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Cataract, Proteinuria, Glomerular basement membrane lamellation, Corneal ero... |
OMIM:203780 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... |
OMIM:278720 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma |
OMIM:120433 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Cataract, Corneal opacity |
ORPHA:90654 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Cataract, Retinal atrophy |
OMIM:613731 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cataract, Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dextrocardia, Coronar... |
OMIM:618280 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly |
OMIM:273680 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma |
OMIM:618220 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... |
OMIM:120200 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Peters anomaly, Atrial septal defect, Patent foramen ovale |
OMIM:618652 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly |
ORPHA:858 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Abnormal heart valve morphology |
ORPHA:1345 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Weill-Marchesani Syndrome |
|
Cataract, Ventricular septal defect, Ectopia lentis, Pulmonic stenosis, Aortic valve stenosis |
ORPHA:3449 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Nephrotic syndrome, Cardiomegaly |
OMIM:269920 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata |
OMIM:193230 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... |
OMIM:232200 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... |
OMIM:232220 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... |
ORPHA:79328 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Retinal detachment, Lens ... |
OMIM:120330 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:614702 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Nummular pigmentation of the fundus, Pigmentary retinopathy |
OMIM:613835 |
H Syndrome |
|
Abnormality of the kidney, Hepatosplenomegaly, Corneal arcus, Micropenis, Enlarged kidney |
ORPHA:168569 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney |
ORPHA:79128 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Opa... |
OMIM:252500 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Cataract |
OMIM:615184 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hy... |
OMIM:212140 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Igg4-Related Kidney Disease |
|
Pericarditis, Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... |
OMIM:609049 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin, Defective DNA repair after ultraviolet radiation d... |
OMIM:278700 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Cataract, Ventricular septal defect, Renal cyst... |
ORPHA:488618 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Astigmatism, Left ventricular hyp... |
OMIM:617713 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Abnormality of the lower urinary tract, Hypertrophic cardiomyopathy,... |
ORPHA:391428 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Peroxisome Biogenesis Disorder 10B |
|
Nephrocalcinosis, Neurogenic bladder, Cataract |
OMIM:617370 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Cataract, Hydroureter, Optic atrophy, Cardiomyopathy, Pigmentary retinopathy,... |
OMIM:222300 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
Anterior Segment Dysgenesis 2 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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Renal insufficiency, Cataract, Glomerular basement membrane lamellation, Proteinuria, Thickened g... |
OMIM:308940 |
Attrv122I Amyloidosis |
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Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ... |
ORPHA:116 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Ogden Syndrome |
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Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def... |
OMIM:300855 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Carney-Stratakis Syndrome |
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Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent urinary tract infections, Mitral valve prolapse, Abnormal heart morphology, Enuresis no... |
OMIM:615873 |
Carnitine Palmitoyltransferase I Deficiency |
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Renal tubular acidosis, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
OMIM:255120 |
Lymphedema-Hypoparathyroidism Syndrome |
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Nephropathy, Renal insufficiency, Cataract, Mitral valve prolapse |
OMIM:247410 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Iris coloboma |
OMIM:212550 |
Coronary Arterial Fistula |
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Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... |
OMIM:616897 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl... |
ORPHA:79259 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly |
ORPHA:42 |
Autosomal Recessive Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... |
OMIM:268315 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Renal tu... |
ORPHA:228308 |
Cantu Syndrome |
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Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Timothy Syndrome |
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Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Cardiomegaly, Hypertrophic c... |
OMIM:201475 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
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Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Hemochromatosis, Type 1 |
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Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
Primary Sclerosing Cholangitis |
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Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Ulcerative colitis, Neoplasm of the... |
ORPHA:171 |
Fucosidosis |
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Hepatomegaly, Mucopolysacchariduria, Corneal opacity, Cardiomegaly |
ORPHA:349 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Leprechaunism |
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Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... |
ORPHA:508 |
Isolated Right Ventricular Hypoplasia |
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Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Cardiomegaly |
OMIM:618838 |
Pseudo-Torch Syndrome 3 |
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Acute kidney injury, Proteinuria, Cardiomegaly |
OMIM:618886 |
Xeroderma Pigmentosum, Complementation Group D |
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Melanoma, Defective DNA repair after ultraviolet radiation damage |
OMIM:278730 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Cataract 5, Multiple Types |
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Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Exudative Vitreoretinopathy 6 |
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Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... |
OMIM:616468 |
Fanconi Anemia, Complementation Group E |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:600901 |
Dent Disease |
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Renal insufficiency, Cataract, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy,... |
ORPHA:1652 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, 3-Methylglutaconic aciduria, Optic atrophy, Cardiomegaly |
OMIM:619259 |
Fanconi Anemia, Complementation Group A |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:227650 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Cirrhotic Cardiomyopathy |
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Hepatomegaly, Left atrial enlargement, Cardiomegaly, Conjunctival icterus, Left ventricular hyper... |
ORPHA:57777 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Ventricular septal defect, Hypospadias, Splenomegaly, Renal cyst, Cardiomyopathy, D... |
OMIM:312870 |
Cataract 20, Multiple Types |
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Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Fanconi Anemia, Complementation Group C |
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Deficient excision of UV-induced pyrimidine dimers in DNA, Leukemia, Chromosomal breakage induced... |
OMIM:227645 |
Knobloch Syndrome |
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Retinal detachment, Cataract, Dextrocardia, Ectopia lentis, Macular degeneration, Vesicoureteral ... |
ORPHA:1571 |
Sickle Cell Disease |
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Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria |
OMIM:603903 |
Alagille Syndrome 1 |
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Duplicated collecting system, Cataract, Ventricular septal defect, Band keratopathy, Multiple sma... |
OMIM:118450 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, High palate, Adenocarcinoma of the col... |
ORPHA:124 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Corneal opacity, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst... |
ORPHA:137675 |
Fuchs Heterochromic Iridocyclitis |
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Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... |
ORPHA:263479 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... |
OMIM:614643 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Heparan sulfate excretion in urine, Spleno... |
ORPHA:581 |
Chromosome 16Q12 Duplication Syndrome |
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Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Cardiomegaly |
OMIM:613320 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Fanconi Anemia, Complementation Group D2 |
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Esophageal atresia, Tracheoesophageal fistula, Deficient excision of UV-induced pyrimidine dimers... |
OMIM:227646 |
Trichothiodystrophy |
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High, narrow palate, Defective DNA repair after ultraviolet radiation damage, Squamous cell carci... |
ORPHA:33364 |
Oculo-Palato-Cerebral Syndrome |
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Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... |
ORPHA:480536 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Cataract, Overriding aorta, Ventricular septal defect, Sclerocornea, Hypospadias, Pigmentary reti... |
OMIM:309801 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Sandhoff Disease |
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Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:268800 |
Danon Disease |
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Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
Mogs-Cdg |
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Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... |
ORPHA:79330 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Aniridia 1 |
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Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Corneal erosion,... |
OMIM:106210 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Dilated cardiomyopathy, Hydronephrosis |
OMIM:614921 |
Oculoauricular Syndrome |
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Retinal detachment, Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Poste... |
OMIM:612109 |
De Sanctis-Cacchione Syndrome |
|
Melanoma, Defective DNA repair after ultraviolet radiation damage |
OMIM:278800 |
Xfe Progeroid Syndrome |
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Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Pudendal Neuralgia |
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Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm |
ORPHA:60039 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:308552 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
Atelis Syndrome 2 |
|
Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, Pulmonic stenosis, Devel... |
OMIM:620185 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Cardiomegaly, Developmental glaucoma, Mitral valve prolapse, Atrial septal... |
OMIM:245600 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Tortuosity of conjunctival vessels, Ol... |
OMIM:230000 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... |
ORPHA:139411 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Ventricular septal defect, Dextrocardia, Hypospadias, Remnants of the hyaloid... |
OMIM:300166 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly |
OMIM:232300 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal tubulointerstitial morphology,... |
ORPHA:904 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology, Urinary retenti... |
ORPHA:97297 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Abetalipoproteinemia |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Keratoconjunctivitis sicca, Corn... |
ORPHA:14 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Abnormality iris morphology, Cardiomegaly |
ORPHA:91387 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
Neuroocular Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
Yunis-Varon Syndrome |
|
Cataract, Ventricular septal defect, Hypospadias, Sclerocornea, Cardiomegaly, Renovascular hypert... |
ORPHA:3472 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio... |
ORPHA:365 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Developmental glaucoma, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis |
ORPHA:51 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Left atrial enlargem... |
OMIM:619991 |
Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Retinal hemorrhag... |
ORPHA:51608 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Lymphoma, Anal atresia |
ORPHA:1572 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Punctate opacification of the cornea, Conjunctivitis |
OMIM:256040 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung adenocarcinoma |
ORPHA:221 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Iris coloboma, Single ventricle |
OMIM:157170 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Uterine l... |
OMIM:617100 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |