Regional Odontodysplasia |
|
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... |
ORPHA:83450 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Amelogenesis Imperfecta |
|
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... |
ORPHA:88661 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
Dentin Dysplasia, Type I |
|
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... |
OMIM:125400 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Oligodontia |
|
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... |
ORPHA:99798 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
Infantile Sialic Acid Storage Disease |
|
Gingival overgrowth, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, High palate |
OMIM:269920 |
Dentinogenesis Imperfecta |
|
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... |
ORPHA:49042 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... |
OMIM:617297 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice |
ORPHA:858 |
Mulibrey Nanism |
|
Microglossia, Dental malocclusion, Dental crowding, Cardiomegaly, Absent frontal sinuses, Hypodon... |
OMIM:253250 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Enamel hypoplasia, Thin upper lip vermilion |
OMIM:613576 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i... |
OMIM:204700 |
Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Chronic sinu... |
OMIM:620642 |
Isolated Anencephaly |
|
Cleft lip, Thymus hyperplasia |
ORPHA:563609 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Neuraminidase Deficiency |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa... |
OMIM:256550 |
Amelogenesis Imperfecta, Type Ic |
|
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp... |
OMIM:204650 |
Otodental Syndrome |
|
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... |
ORPHA:2791 |
Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo... |
OMIM:616221 |
Neurooculocardiogenitourinary Syndrome |
|
Downturned corners of mouth, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal d... |
OMIM:618652 |
Congenital Myopathy 8 |
|
Cardiomegaly, High palate |
OMIM:618654 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Hepatic steatosis |
ORPHA:79087 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Retrognathia, Cardiomyopathy, Hyperplasia of the maxilla, Hypertrophic c... |
OMIM:300280 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice |
ORPHA:615 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth... |
OMIM:612529 |
Amelogenesis Imperfecta, Type Iiic |
|
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... |
OMIM:618386 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Protruding tongue, Mitral valve prolapse, Cardiomegaly, Smooth philtrum, E... |
ORPHA:324410 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Amelogenesis imperfecta, Carious teeth, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Lethal Congenital Contracture Syndrome 10 |
|
Narrow palate, Long philtrum, Micrognathia, Ventricular septal defect, Cardiomegaly, Hypoplasia o... |
OMIM:617022 |
Hemochromatosis, Type 1 |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Cirrhosis, Testicular atrophy, Hepatoce... |
OMIM:235200 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas... |
OMIM:619652 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Amelogenesis imperfecta, Enamel hypoplasia |
OMIM:616270 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, ... |
OMIM:612714 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent... |
ORPHA:1028 |
Amelogenesis Imperfecta, Type Ie |
|
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... |
OMIM:301200 |
Amelogenesis Imperfecta, Type Iv |
|
Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia |
OMIM:104510 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly... |
ORPHA:79456 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Open bite, Splenomegaly, Polycystic ova... |
ORPHA:2969 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Dilated cardiomyopathy |
OMIM:600649 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Cantu Syndrome |
|
Congenital hypertrophy of left ventricle, Long philtrum, Thick lower lip vermilion, Thick upper l... |
OMIM:239850 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Decreased carnitine level in liver, Endocardial fibr... |
OMIM:212140 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Osteopetrosis, Autosomal Recessive 2 |
|
Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancyt... |
OMIM:259710 |
Timothy Syndrome |
|
Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Thin upper li... |
OMIM:601005 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Eosinophilia, Lymphocytosis, Lymphadenopathy, Enanthema, Myocarditis |
ORPHA:139402 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Retrognathia, Hepatosplenomegaly, Micrognathia, Open mouth, Splenome... |
OMIM:608013 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Retrognathia, Decreased response to growth hormone stimulation test, Cervi... |
OMIM:602782 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
Oslam Syndrome |
|
Abnormality of neutrophils, Carious teeth, Increased mean corpuscular volume |
ORPHA:2760 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Thick vermilion border |
ORPHA:3137 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
Mogs-Cdg |
|
Retrognathia, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defec... |
ORPHA:79330 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Abnormality of the liver, Lymphocytosis, Iron deficiency anemi... |
ORPHA:1667 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hepatomegaly, Cirrhosis, Cholang... |
ORPHA:465508 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt... |
OMIM:618278 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Unilateral cleft lip, Hypertrophic cardiomyopathy, Micrognathia, Ventricular septal defect, Cardi... |
OMIM:616897 |
Congenital Disorder Of Glycosylation, Type It |
|
Bifid uvula, Intrahepatic cholestasis, Dilated cardiomyopathy, Hepatitis, Micrognathia, Hepatic s... |
OMIM:614921 |
Beck-Fahrner Syndrome |
|
Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, High palate |
OMIM:618798 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... |
OMIM:201475 |
Sandhoff Disease |
|
Hepatomegaly, Macroglossia, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Long philtrum, Abnormal heart valve morphology, Gingival overgrowth, Promi... |
ORPHA:363705 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Hepatic steatosis |
ORPHA:42 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ul... |
OMIM:620376 |
Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Orofacial clef... |
ORPHA:3427 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Micrognathia, Thymus hyperplasia |
OMIM:619036 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the dentition, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
High, narrow palate, Dental crowding, Widely spaced teeth, Left ventricular noncompaction, Left v... |
OMIM:300967 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan... |
ORPHA:50918 |
Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice, Hepatom... |
ORPHA:57777 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
Fucosidosis |
|
Macroglossia, Absent/hypoplastic paranasal sinuses, Thick lower lip vermilion, Splenomegaly, Card... |
OMIM:230000 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly, Deep philtrum |
OMIM:613320 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Retrognathia, Micrognathia, Gingival overgrowth, Cryptorchidism, Ventricular septal defect, Cardi... |
ORPHA:96191 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cleft palate, Natal tooth, Cardiomyopathy |
ORPHA:158687 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Narrow mouth, Malar flattening, Cardiomegaly, High palate, Abnormal thymus morphology, Broad phil... |
ORPHA:2463 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Developmental And Epileptic Encephalopathy 95 |
|
Widely spaced teeth, Gingival overgrowth, Cryptorchidism, Cardiomegaly, Deep philtrum, Hepatomega... |
OMIM:618143 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Microretrognathia, Long philtrum, Micrognathia, Narrow mouth, Mitral valve prolapse, Patent foram... |
OMIM:245600 |
Cantú Syndrome |
|
Long philtrum, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly, Thick ... |
ORPHA:1517 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Macroglossia, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Narrow palate, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Cardiomegaly, Hepatic c... |
OMIM:608836 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Narrow palate, Microretrognathia, Hepatic sinusoidal dilatation, Tented upper lip vermilion, Sple... |
OMIM:620371 |
Mucopolysaccharidosis Type 3 |
|
Abnormality of the dentition, Craniofacial hyperostosis, Recurrent tonsillitis, Adenoiditis, Sple... |
ORPHA:581 |
Ogden Syndrome |
|
Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Cryptorchidism, Ventricular... |
OMIM:300855 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly, Hepatic steatosis |
OMIM:255120 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Oral ulcer, Perianal a... |
OMIM:301074 |
Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... |
ORPHA:3384 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
Mucolipidosis Ii Alpha/Beta |
|
Long philtrum, Hypertrophic cardiomyopathy, Progressive alveolar ridge hypertropy, Micrognathia, ... |
OMIM:252500 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
High, narrow palate, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abno... |
ORPHA:228308 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... |
OMIM:617718 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Cleft lip, Annular pancreas, Retrognathia, Prominent palatine ridges, Micrognathi... |
ORPHA:97297 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Macroglossia |
ORPHA:308552 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Micrognathia, Hepatic steatosis, Ventr... |
OMIM:619991 |
Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content |
OMIM:619259 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:261740 |
Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic ca... |
ORPHA:116 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Acanthocytosis, Reticulocytosis, Hepatic steatosis, Cardiomegaly, Hepatomegaly,... |
ORPHA:14 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Lip telangiectasia, Telangiectasia of the oral mucosa, Thick vermilion border |
ORPHA:79280 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cryptorchidism, Cardiomegaly, Hepatoblastoma, Hepatomegal... |
OMIM:130650 |
Yunis-Varon Syndrome |
|
High, narrow palate, Cardiomyopathy, Tetralogy of Fallot, Gingival recession, Broad secondary alv... |
ORPHA:3472 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... |
ORPHA:1677 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Parotitis, Microcytic anemia, Thick lower lip vermilion, Splenomegaly, Recurrent sinusitis, Cardi... |
OMIM:256040 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Hepatomegaly, Cleft palate |
ORPHA:137675 |
Williams Syndrome |
|
Carious teeth, Open bite, Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal... |
ORPHA:904 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Retrognathia, High, narrow palate |
ORPHA:91387 |
Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Hypoplasia of the maxilla, Carious teeth, Erup... |
OMIM:182250 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Proteus Syndrome |
|
Carious teeth, Thymus hyperplasia, Tooth agenesis, Abnormal dental enamel morphology, Neoplasm of... |
ORPHA:744 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly... |
ORPHA:51 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Macroglossia |
ORPHA:365 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pancreatic calcification, Cardiomegaly, Hepatic calcification, Pericardi... |
ORPHA:51608 |