| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Gastroschisis |
|
Abnormal mesentery morphology, Gastroschisis, Intestinal atresia |
ORPHA:2368 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Gastroschisis |
|
Abdominal wall defect, Gastroschisis |
OMIM:230750 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Growth delay, Hypoalbuminemia, Steato... |
OMIM:246700 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia,... |
OMIM:232700 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Short stature, Decreased LDL cholesterol concentration, ... |
OMIM:616834 |
| Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Bilateral cryptorchid... |
OMIM:618156 |
| Colonic Atresia |
|
Omphalocele, Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inve... |
ORPHA:1198 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Short stature, Generali... |
OMIM:612526 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Neoplasm of the liver, Intest... |
ORPHA:424019 |
| Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Postnatal growth retardation, Severe intrauterine growt... |
ORPHA:231144 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Potocki-Lupski Syndrome |
|
Small for gestational age, Failure to thrive, Short stature, Hypocholesterolemia |
OMIM:610883 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Lethargy, Cardiomegaly |
OMIM:600649 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Juvenile Hyaline Fibromatosis |
|
Abnormality of the gastrointestinal tract, Death in infancy, Skin ulcer |
ORPHA:2028 |
| Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterol... |
OMIM:266510 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Growth delay, Steatorrhea, Failure to thrive, Hypocholesterolemia |
ORPHA:71 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Erythema, Skin ulcer |
ORPHA:2337 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:619064 |
| Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Dry skin |
ORPHA:2584 |
| Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Short stature, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Postnata... |
ORPHA:96180 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Failure to thrive, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... |
ORPHA:2457 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Skin ulcer, Gastrointes... |
ORPHA:91138 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Di... |
OMIM:300280 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Brittle hair, Sparse eyebrow, Hydrocele testis, Hypocholesterolemia, Neonatal death |
OMIM:618810 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomyopathy, Gait disturbance, ... |
OMIM:619259 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Gastroschisis, Cleft palate |
ORPHA:2476 |
| Lichen Planopilaris |
|
Abnormal intestine morphology, Hepatitis, Skin ulcer |
ORPHA:525 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Lethargy, Hypertrophic ca... |
OMIM:212140 |
| Alg12-Cdg |
|
Hyponatremia, Cryptorchidism, Low posterior hairline, Abnormal adipose tissue morphology, Hypoalb... |
ORPHA:79324 |
| Reticular Dysgenesis |
|
Skin ulcer, Malabsorption |
ORPHA:33355 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:848 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Abnormal subcutaneous fat tissue distribution, Flexion contracture, Hypoalbuminemia, Steatorrhea,... |
OMIM:212065 |
| Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Skin ulcer |
ORPHA:834 |
| Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Skin ulcer, Gastroesophag... |
ORPHA:779 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Tracheoesophageal fistula, Skin ulcer, Abnormal... |
ORPHA:2591 |
| Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
| Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Limited Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Skin ulcer, Dysphagia |
ORPHA:220402 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Dysmetria, Cardiomyopathy |
OMIM:256550 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:151660 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Malabsorption, Pyloric stenosis, Splenomegaly, Tracheoesophageal fis... |
ORPHA:379 |
| Dracunculiasis |
|
Skin ulcer |
ORPHA:231 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Lethargy, Cardiomegaly |
OMIM:255120 |
| Isolated Agammaglobulinemia |
|
Skin ulcer, Malabsorption |
ORPHA:229717 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Colitis, Pyoderma gangrenosum, Hepatosplenomegaly |
OMIM:604416 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ataxia, Lethargy, Cardiomegaly |
ORPHA:42 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Ne... |
ORPHA:424016 |
| Acrogeria |
|
Excessive wrinkled skin, Skin ulcer |
ORPHA:2500 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer, Anal canal squamous carcinoma |
ORPHA:217390 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Ataxia, Cardiomegaly |
OMIM:266500 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Abnormal circulating corticosterone lev... |
ORPHA:556037 |
| Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer |
ORPHA:409 |
| Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Skin u... |
OMIM:170100 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Inguinal hernia, Short stature, Postnatal growth retardation, Cryptorchidism, ... |
OMIM:223370 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy, Cardiomegaly |
OMIM:201475 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Gastroesophageal reflux, Skin ulcer |
ORPHA:36386 |
| Kaufman Oculocerebrofacial Syndrome |
|
Short stature, Sparse eyebrow, Hypocholesterolemia, Sparse hair, Failure to thrive |
OMIM:244450 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Chilblain Lupus |
|
Skin ulcer |
ORPHA:90280 |
| X-Linked Agammaglobulinemia |
|
Glossoptosis, Hepatitis, Skin ulcer, Malabsorption |
ORPHA:47 |
| Necrobiosis Lipoidica |
|
Erythema, Skin ulcer |
ORPHA:542592 |
| Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Skin ulcer, Saliva... |
ORPHA:79493 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Erythema, Skin ulcer |
ORPHA:767 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
ORPHA:14 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Loss of ambulation, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Pyoderma Gangrenosum |
|
Skin vesicle, Inflammation of the large intestine, Skin ulcer |
ORPHA:48104 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Takayasu Arteritis |
|
Gastrointestinal infarctions, Skin ulcer |
ORPHA:3287 |
| Gm1 Gangliosidosis |
|
Inguinal hernia, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hepatospleno... |
ORPHA:354 |
| Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, G... |
ORPHA:989 |
| Dominant Beta-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, Chronic hepatitis, Hepatic... |
ORPHA:231226 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Pyoderma gangrenosum |
OMIM:616576 |
| Papa Syndrome |
|
Skin ulcer, Crohn's disease |
ORPHA:69126 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Malabsorption, Xerostomia, Skin ulcer, Gastroesophageal reflux, Dysphagia |
ORPHA:220393 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Limb ataxia, Cardiomyopathy, Truncal ataxia |
OMIM:105210 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Malabsorption,... |
ORPHA:537 |
| Acrodermatitis Enteropathica |
|
Malabsorption, Erythema, Skin ulcer, Furrowed tongue, Dry skin, Glossitis |
ORPHA:37 |
| Flynn-Aird Syndrome |
|
Skin ulcer |
ORPHA:2047 |
| Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Dry skin |
ORPHA:742 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, Hepatic fibr... |
ORPHA:231214 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer |
ORPHA:312 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:822 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Tip-toe gait, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Malabsorption, Splenomegaly, Anorect... |
ORPHA:1775 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Peritonitis, Erythema, Skin ulcer, Gastrointestinal infarctions, Pan... |
ORPHA:727 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Werner Syndrome |
|
Miscarriage, Lack of skin elasticity, Skin ulcer, Gastrointestinal carcinoma, Neoplasm of the sma... |
ORPHA:902 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Lethargy |
ORPHA:465508 |
| Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Skin ulcer, Steatorrhea |
ORPHA:2176 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Ataxia, Cardiomegaly |
OMIM:268800 |
| Tangier Disease |
|
Hypertriglyceridemia, Nail dystrophy, Hypocholesterolemia |
ORPHA:31150 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Pyoderma gangrenosum |
OMIM:150550 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
| Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Cardiomegaly |
OMIM:620306 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
| Smith-Lemli-Opitz Syndrome |
|
Short stature, Cryptorchidism, Growth delay, Hypoalbuminemia, Elevated circulating 7-dehydrochole... |
OMIM:270400 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Catastrophic Antiphospholipid Syndrome |
|
Gastrointestinal infarctions, Miscarriage, Skin ulcer |
ORPHA:464343 |
| Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer |
ORPHA:1657 |
| Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Skin vesicle, Skin ulcer, Cleft palate |
ORPHA:2314 |
| Necrotizing Enterocolitis |
|
Peritonitis, Gastroschisis |
ORPHA:391673 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Ataxia, Cardiomegaly, Inability to walk, Gait disturbance |
OMIM:618143 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lethargy, Enlarged kidney |
OMIM:608836 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Chronic Mucocutaneous Candidiasis |
|
Erythema, Hepatitis, Skin ulcer |
ORPHA:1334 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:608013 |
| Giant Cell Arteritis |
|
Gastrointestinal infarctions, Hepatic failure, Glossitis, Skin ulcer |
ORPHA:397 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Skin ulcer |
ORPHA:659 |
| Calciphylaxis |
|
Skin ulcer |
ORPHA:280062 |
| Constricting Bands, Congenital |
|
Omphalocele, Bladder exstrophy, Gastroschisis, Cleft palate |
OMIM:217100 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Inguinal hernia, Intestinal malrotation, Splenomegaly, Cleft palate, Skin ulcer, Um... |
ORPHA:955 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix,... |
OMIM:615688 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Acute Radiation Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:454831 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum, Recurrent infection of the gastrointestinal tract |
ORPHA:486 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Pgm3-Cdg |
|
Lactose intolerance, Skin ulcer, Gastroesophageal reflux, High palate, Esophagitis |
ORPHA:443811 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Difficulty walking, Cardiomegaly |
OMIM:232300 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Erythema, Skin ulcer, Dysphagia, Dry skin |
ORPHA:93672 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
| Duplication Of Urethra |
|
Rectourethral fistula, Anorectal anomaly, Gastroschisis, Anal fistula, Anal atresia |
ORPHA:237 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer |
ORPHA:1806 |
| Familial Keratoacanthoma |
|
Skin ulcer |
ORPHA:493 |
| Livedoid Vasculopathy |
|
Ecchymosis, Skin ulcer, Macular purpura |
ORPHA:542643 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Ataxia, Cardiomegaly, Splenomegaly, Loss of ambulation, Abnormal aortic valve morph... |
ORPHA:581 |
| Malakoplakia |
|
Neoplasm of the rectum, Skin ulcer, Neoplasm of the colon |
ORPHA:556 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Spastic gait, Cardiomegaly |
OMIM:230000 |
| Fusariosis |
|
Abnormality of the spleen, Abnormality of the liver, Peritonitis, Skin ulcer |
ORPHA:228119 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Splenomegaly, Esophageal varix, Skin ulcer, Hepatosplenomegaly, Gastri... |
ORPHA:2072 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Erythema, Xerostomia, Skin ulcer, Ankyloglossia, Oral ... |
ORPHA:2907 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Pyloric stenosis, Abnormality of the gallbladder, Cleft palate, Gastroesop... |
ORPHA:818 |
| Leukocyte Adhesion Deficiency, Type I |
|
Rectal abscess, Skin ulcer |
OMIM:116920 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Gastroesophageal reflux, Acral ulceration |
OMIM:201300 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum |
OMIM:608068 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Erythema, Skin ulcer, Gastrointestinal infarctions, Purpura |
ORPHA:761 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Incontinentia Pigmenti |
|
Umbilical hernia, Erythema, Skin ulcer |
ORPHA:464 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Esophageal stricture, Erythema, Xerostomia, Skin ulcer, Abnormal e... |
ORPHA:99921 |
| Iniencephaly |
|
Omphalocele, Gastroschisis, Anal atresia, Duodenal atresia |
ORPHA:63259 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Inguinal hernia, Malabsorption, Narrow palate, Skin ulcer, Gastroesophageal ref... |
ORPHA:534 |
| Meige Disease |
|
Skin ulcer |
ORPHA:90186 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiomegaly, L... |
OMIM:300967 |
| Adult Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:978 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Lethargy, Cardiomegaly |
ORPHA:137675 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Tip-toe gait, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Skin ulcer, Hematochezia, Inflammation of the large intestine, Petechiae, Purpura |
ORPHA:906 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Inability to walk, Difficulty walking, Left ventricular hypertrophy, ... |
ORPHA:365 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Skin ulcer, Pancreatitis, Purpura |
ORPHA:900 |
| Acrofacial Dysostosis 1, Nager Type |
|
Velopharyngeal insufficiency, Aganglionic megacolon, Gastroschisis, Cleft palate |
OMIM:154400 |
| Sweet Syndrome |
|
Skin vesicle, Inflammation of the large intestine, Pyoderma gangrenosum |
ORPHA:3243 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Anal atresia, Gastroschisis, Cleft palate |
OMIM:273395 |
| Primary Sjögren Syndrome |
|
Chronic active hepatitis, Xerostomia, Biliary cirrhosis, Skin ulcer, Chronic hepatitis, Dry skin,... |
ORPHA:289390 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, Acral ul... |
ORPHA:91139 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Bohring-Opitz Syndrome |
|
Inability to walk, Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Blau Syndrome |
|
Splenomegaly, Erythema, Xerostomia, Skin ulcer, Abnormality of the liver, Abnormal salivary gland... |
ORPHA:90340 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Plague |
|
Hepatomegaly, Hematemesis, Splenomegaly, Enterocolitis, Skin ulcer, Inflammation of the large int... |
ORPHA:707 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Penetrating foot ulcers |
ORPHA:99956 |
| Chime Syndrome |
|
Erythema, Skin ulcer, Cleft palate |
ORPHA:3474 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Dry skin, Scaling skin, Skin ulcer |
ORPHA:2526 |
| Granulomatosis With Polyangiitis |
|
Skin ulcer |
OMIM:608710 |
| Dermatomyositis |
|
Gastrointestinal stroma tumor, Erythema, Dry skin, Skin ulcer |
ORPHA:221 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Ventral hernia, Inguinal hernia, Redundant skin, High palate, Umbilical hernia |
OMIM:618000 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Difficulty walking, Cardiomegaly |
ORPHA:51 |
| Amoebiasis Due To Free-Living Amoebae |
|
Skin ulcer |
ORPHA:68 |
| Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ski... |
ORPHA:95455 |
| Atypical Werner Syndrome |
|
Hepatic steatosis, Lack of skin elasticity, Skin ulcer, Neoplasm of the small intestine |
ORPHA:79474 |
| Cushing Disease |
|
Ecchymosis, Striae distensae, Skin ulcer, Purpura |
ORPHA:96253 |
| Leprosy |
|
Abnormality of the spleen, Abnormality of the liver, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Neoplasm of the stomach, Panc... |
ORPHA:99889 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Acral ulceration |
OMIM:256800 |
| Blau Syndrome |
|
Skin ulcer |
OMIM:186580 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Alopecia, Hypertriglyceridemia, Cryptorch... |
ORPHA:536532 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |
| Singleton-Merten Syndrome 1 |
|
Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular ... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
| Leukocyte Adhesion Deficiency |
|
Perianal abscess, Peritonitis, Pyoderma gangrenosum |
ORPHA:2968 |
| Split Cord Malformation |
|
Penetrating foot ulcers |
ORPHA:573278 |
