Regional Odontodysplasia |
|
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... |
ORPHA:83450 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Amelogenesis Imperfecta |
|
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... |
ORPHA:88661 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... |
OMIM:204700 |
Oligodontia |
|
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... |
ORPHA:99798 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta |
OMIM:617297 |
Dentin Dysplasia, Type I |
|
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... |
OMIM:125400 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Dentinogenesis Imperfecta |
|
Persistence of primary teeth, Fragile teeth, Generalized hypoplasia of dental enamel, Grayish ena... |
ORPHA:49042 |
Infantile Sialic Acid Storage Disease |
|
High palate, Gingival overgrowth, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly |
OMIM:269920 |
Mulibrey Nanism |
|
Myocardial fibrosis, Dental malocclusion, Hepatomegaly, Hypodontia, Enamel hypoplasia, Hypoplasti... |
OMIM:253250 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Thin upper lip vermilion, Cardiomegaly |
OMIM:613576 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Jaundice, Cardiomegaly |
ORPHA:858 |
Taurodontism, Microdontia, And Dens Invaginatus |
|
Dens in dente, Taurodontia, Microdontia, Pulp calcification |
OMIM:313490 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Otodental Dysplasia |
|
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... |
OMIM:166750 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Fulminant hepatitis, Ap... |
OMIM:308240 |
Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Micrognathia, Hypoplasia of the thymus, Long philtrum, Ventricular se... |
OMIM:617022 |
Isolated Anencephaly |
|
Thymus hyperplasia, Cleft lip |
ORPHA:563609 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Cardiomyopathy, Cardi... |
OMIM:256550 |
Otodental Syndrome |
|
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... |
ORPHA:2791 |
Amelogenesis Imperfecta, Type Ic |
|
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... |
OMIM:204650 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Amelogenesis Imperfecta, Type Ih |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... |
OMIM:616221 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Downturned corners of mouth, Patent foramen oval... |
OMIM:618652 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
High palate, Cardiomegaly |
OMIM:618654 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphocytosis, Abnormality of the lymph nodes, Lymphadenitis, Eosinophilia, Hepatosplenomegaly, A... |
ORPHA:911 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... |
OMIM:603903 |
Timothy Syndrome |
|
Microdontia, Tetralogy of Fallot, Ventricular septal defect, Patent foramen ovale, Thin upper lip... |
OMIM:601005 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Everted lower lip vermilion, Mitral valve prolapse, Protruding tongue, Smo... |
ORPHA:324410 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cardiomyopat... |
OMIM:235200 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... |
OMIM:618386 |
Immunodeficiency 92 |
|
Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopenia, Thrombocyto... |
OMIM:619652 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Amelogenesis Imperfecta, Type If |
|
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Abnormality of dental color |
OMIM:616270 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Persistence of primary teeth, Extramedullary hematopoiesis, Hepatosplen... |
OMIM:259710 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, C... |
OMIM:612714 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Tooth agenesis, Everted lower lip vermilion, Delayed eruption ... |
ORPHA:1028 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Endocardial fibroelastosis, Decreased carnitine level in liver, Hypertrophic cardio... |
OMIM:212140 |
Amelogenesis Imperfecta, Type Iv |
|
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta |
OMIM:104510 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Lymphadenopa... |
ORPHA:79456 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... |
ORPHA:860 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Myocarditis, Incr... |
ORPHA:2442 |
Proteus-Like Syndrome |
|
Splenomegaly, Open bite, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ova... |
ORPHA:2969 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Cantu Syndrome |
|
Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Gingi... |
OMIM:239850 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Gaucher Disease, Perinatal Lethal |
|
Narrow mouth, Hepatomegaly, Splenomegaly, Everted upper lip vermilion, Retrognathia, Hepatospleno... |
OMIM:608013 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy |
OMIM:617718 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Histiocytosis, Atrial septal defect, Decreased response to growth hormone stimulation test, Hepat... |
OMIM:602782 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Enanthema, Lymphocytosis, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy |
ORPHA:139402 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Carious teeth |
ORPHA:2760 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Iron deficiency anemia |
ORPHA:99931 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Thick vermilion border, Cardiomegaly |
ORPHA:3137 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Fucosidosis |
|
Hepatomegaly, Vacuolated lymphocytes, Macroglossia, Splenomegaly, Absent/hypoplastic paranasal si... |
OMIM:230000 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... |
OMIM:306955 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Testicular atrophy, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular car... |
ORPHA:465508 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... |
OMIM:115197 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Exocrine pancreatic insufficiency, Atrial septal defect, Lymphocyt... |
ORPHA:1667 |
Craniofaciofrontodigital Syndrome |
|
Dental malocclusion, Abnormality of the dentition, Long philtrum, Cardiomegaly, Abnormal heart mo... |
OMIM:114620 |
Mogs-Cdg |
|
Hydrocele testis, High palate, Atrial septal defect, Hepatomegaly, Retrognathia, Left ventricular... |
ORPHA:79330 |
Danon Disease |
|
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... |
OMIM:300257 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Micrognathia, Chronic hepatitis, ... |
OMIM:614921 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatic steatosis, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Beck-Fahrner Syndrome |
|
High palate, Long philtrum, Ventricular septal defect, Open mouth, Cardiomegaly |
OMIM:618798 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Micrognathia, Ventricular septal defect, Unilateral cleft lip, Hypertrophic cardiom... |
OMIM:616897 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Gingival overgrowth, Atrial septal defect, Aortic valve stenosis, Prominen... |
ORPHA:363705 |
Coronary Arterial Fistula |
|
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... |
ORPHA:2041 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatic ... |
OMIM:201475 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Sandhoff Disease |
|
Macroglossia, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Fucosidosis |
|
Abnormality of the gallbladder, Abnormality of the dentition, Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Cervical lymphadenopathy, Abnormality of the lymph nod... |
ORPHA:50918 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Micrognathia |
OMIM:619036 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Wide mouth, Narrow mouth, Atrial septal defect, Hi... |
OMIM:300967 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Deep philtrum, Cardiomegaly |
OMIM:613320 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
High palate, Gingival overgrowth, Hepatomegaly, Macroglossia, Retrognathia, Micrognathia, Ventric... |
ORPHA:96191 |
Cantú Syndrome |
|
Wide mouth, Long philtrum, Thick vermilion border, Abnormal heart valve morphology, Hypertrophic ... |
ORPHA:1517 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly |
OMIM:261740 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
High palate, Narrow mouth, Malar flattening, Abnormality of the thymus, Broad philtrum, Cardiomegaly |
ORPHA:2463 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Left ventricular hypertrophy, Cirrhosis, Left atrial enla... |
ORPHA:57777 |
Developmental And Epileptic Encephalopathy 95 |
|
Gingival overgrowth, Hepatomegaly, Macroglossia, Deep philtrum, Widely spaced teeth, Cryptorchidi... |
OMIM:618143 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Glycogen Storage Disease Ii |
|
Macroglossia, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Narrow palate, Hepatomegaly, Lipid accumulation in hepatocytes, Hepatic calcificatio... |
OMIM:608836 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Cleft palate, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Narrow mouth, Atrial septal defect, Microretrognathia, Cleft palate, Left ... |
OMIM:245600 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Craniofacial hyperostosis, Hepatomegaly, Macroglossia, Splenome... |
ORPHA:581 |
Truncus Arteriosus |
|
Atrial septal defect, Right ventricular hypertrophy, Pulmonic stenosis, Hypoplasia of the thymus,... |
ORPHA:3384 |
Ogden Syndrome |
|
Hydrocele testis, High palate, Abnormality of the dentition, Short philtrum, Enlarged kidney, Ven... |
OMIM:300855 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Primum atrial septal defect, Right ventricular hypertrophy, Displacement of the pap... |
ORPHA:1329 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Macroglossia, Left ventricular hypertrophy, Difficulty in tongue movements, Hypertr... |
ORPHA:308552 |
Mucolipidosis Ii Alpha/Beta |
|
Wide mouth, Gingival overgrowth, Hepatomegaly, Macroglossia, Splenomegaly, Micrognathia, Long phi... |
OMIM:252500 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Perianal abscess, Oral ulcer, Reduced natu... |
OMIM:301074 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, High, narrow palate, Hepatic calcification, Abnormal myocardium morphology, Hepatic... |
ORPHA:228308 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Pancreatic hypoplasia, Ventric... |
OMIM:619991 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas, Cleft palate, Retrognathia,... |
ORPHA:97297 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Beckwith-Wiedemann Syndrome |
|
Wide mouth, Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Crypto... |
ORPHA:116 |
Abetalipoproteinemia |
|
Hepatomegaly, Cirrhosis, Reticulocytosis, Acanthocytosis, Hepatic fibrosis, Anemia, Hepatic steat... |
ORPHA:14 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Secundum atri... |
OMIM:620066 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Thick vermilion border, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa |
ORPHA:79280 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Macroglossia, Splenomegaly, Thrombocytopenia, Recurrent sinusitis, Elevated circula... |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Cryptorchidi... |
OMIM:130650 |
Yunis-Varon Syndrome |
|
Atrial septal defect, High, narrow palate, Glossoptosis, Micrognathia, Short philtrum, Thin vermi... |
ORPHA:3472 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Abnormality of the hepatic vasculature, Hepatomegaly, Right ventricular... |
ORPHA:1677 |
Proteus Syndrome |
|
Tooth agenesis, Ovarian neoplasm, Lymphangioma, Splenomegaly, Neoplasm of the thymus, Testicular ... |
ORPHA:744 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Splenomegaly, Restrictive cardiomyopathy, Eosinop... |
ORPHA:75565 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cleft palate, Ventricular septal defect, Polycystic ovaries, Cardiomegaly |
ORPHA:137675 |
Williams Syndrome |
|
Cholelithiasis, Abnormal cardiac septum morphology, Wide mouth, Microdontia, Carious teeth, Ventr... |
ORPHA:904 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Retrognathia, Bicuspid aortic valve, High, narrow palate, Cardiomegaly |
ORPHA:91387 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Eruption failure, Aortic valve stenosis, Mitral valve calcification, ... |
OMIM:182250 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Prolonged n... |
ORPHA:51 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Atrial septal defect, Tetralogy of Fallot, Truncus arteriosus... |
ORPHA:980 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Macroglossia, Left ventricular hypertrophy, Difficulty in tongue movements, Hypertr... |
ORPHA:365 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
|
Hepatic calcification, Myocardial calcification, Ventricular hypertrophy, Pancreatic calcificatio... |
ORPHA:51608 |