Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Gastroschisis |
|
Gastroschisis, Intestinal atresia, Abnormality of mesentery morphology |
ORPHA:2368 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Growth delay, Hypocholes... |
OMIM:246700 |
Gastroschisis |
|
Gastroschisis, Abdominal wall defect |
OMIM:230750 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Postnat... |
OMIM:232700 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Short stature, Failure to thrive, Delayed puberty, Decre... |
OMIM:616834 |
Potocki-Lupski Syndrome |
|
Echolalia, Short stature, Small for gestational age, Failure to thrive, Receptive language delay,... |
OMIM:610883 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Decreased LDL cholesterol concentration, Abnormality of hair pigmentati... |
OMIM:618156 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Colonic Atresia |
|
Peptic ulcer, Gastroschisis, Duodenal stenosis, Colonic atresia, Abnormality of mesentery morphol... |
ORPHA:1198 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Short stature, Reduced subcutaneous adipose tissue, Lipodystrophy, Hirsutism, Generalized lipodys... |
OMIM:612526 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer, Neoplasm of the rectum, Intestinal bleeding, Anal canal squamo... |
ORPHA:424019 |
Silver-Russell Syndrome Due To 11P15 Microduplication |
|
Short stature, Small for gestational age, Failure to thrive, Severe intrauterine growth retardati... |
ORPHA:231144 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septal defect, Perimembranous ventricular septa... |
OMIM:620135 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Aganglionic megacolo... |
ORPHA:95427 |
Juvenile Hyaline Fibromatosis |
|
Skin ulcer, Death in infancy, Abnormality of the gastrointestinal tract |
ORPHA:2028 |
Peroxisome Biogenesis Disorder 3B |
|
Hypocholesterolemia, Failure to thrive, Steatorrhea, Elevated circulating phytanic acid concentra... |
OMIM:266510 |
Chylomicron Retention Disease |
|
Steatorrhea, Failure to thrive, Growth delay, Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:71 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Decreased body weight, Short stature, Delayed speech and... |
ORPHA:96180 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Skin ulcer, Erythema |
ORPHA:2337 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy |
OMIM:617713 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Dermatofibrosarcoma Protuberans |
|
Skin ulcer, Erythema |
ORPHA:31112 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Classic Mycosis Fungoides |
|
Skin ulcer, Dry skin, Erythema, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Cleft palate, Gastroschisis, Ectopic anus |
ORPHA:2476 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
Mandibuloacral Dysplasia |
|
Alopecia, Contractures of the large joints, Increased circulating free fatty acid level, Increase... |
ORPHA:2457 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Failure to thrive, Conjugated hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Alg12-Cdg |
|
Delayed speech and language development, Camptodactyly, Failure to thrive, Hypocholesterolemia, C... |
ORPHA:79324 |
Cryoglobulinemic Vasculitis |
|
Abnormality of the liver, Petechiae, Skin ulcer, Purpura, Viral hepatitis, Gastrointestinal hemor... |
ORPHA:91138 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Abnormal subcutaneous fat tissue distribution, Delayed speech and language d... |
OMIM:212065 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair, Hydrocele testis, Hypocholesterolemia, Neonatal death |
OMIM:618810 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Lichen Planopilaris |
|
Hepatitis, Abnormal intestine morphology, Skin ulcer |
ORPHA:525 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Reticular Dysgenesis |
|
Malabsorption, Skin ulcer |
ORPHA:33355 |
Beta-Thalassemia |
|
Splenomegaly, Hepatitis, Skin ulcer, Pallor, Hepatomegaly, Cholelithiasis |
ORPHA:848 |
Free Sialic Acid Storage Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Skin ulcer, Splenomegaly, Hepatomegaly |
ORPHA:834 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Skin ulcer, Tracheoesophageal fistula, Abnormal intestine morphology, I... |
ORPHA:2591 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Timothy Syndrome |
|
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601005 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Cirrhosis, Jaundice, Skin ulcer, Xer... |
ORPHA:779 |
Congenital Analbuminemia |
|
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... |
ORPHA:86816 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of the liver, Jaundice, Skin ulcer, Hepatocellular carcino... |
ORPHA:231222 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Left ventricular hypertrophy, Cardiac amyloidosis, Hypertrophic cardi... |
ORPHA:85451 |
Limited Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Skin ulcer, Dysphagia |
ORPHA:220402 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Chronic Granulomatous Disease |
|
Malabsorption, Liver abscess, Pyloric stenosis, Skin ulcer, Tracheoesophageal fistula, Hepatomega... |
ORPHA:379 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:269920 |
Dubowitz Syndrome |
|
Sparse scalp hair, Sparse lateral eyebrow, Short stature, Delayed speech and language development... |
OMIM:223370 |
Dracunculiasis |
|
Skin ulcer |
ORPHA:231 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect |
OMIM:618652 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased facial adipose tissue, Reduced subcutaneous adipose tissue, Adipose tissue loss, Increa... |
OMIM:151660 |
Leishmaniasis |
|
Skin ulcer, Elevated hepatic transaminase, Pallor, Hepatomegaly, Splenomegaly |
ORPHA:507 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse eyebrow, Short stature, Absent speech, Failure to thrive, Hypocholesterolemia, Sparse hair |
OMIM:244450 |
Isolated Agammaglobulinemia |
|
Malabsorption, Skin ulcer |
ORPHA:229717 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Pyoderma gangrenosum, Colitis |
OMIM:604416 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
Acrogeria |
|
Skin ulcer, Excessive wrinkled skin |
ORPHA:2500 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer, Neoplasm of the rectum, Intestinal bleeding, Anal canal adenoc... |
ORPHA:424016 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer, Anal canal squamous carcinoma |
ORPHA:217390 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:212140 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Failu... |
ORPHA:556037 |
Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer |
ORPHA:409 |
Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
Prolidase Deficiency |
|
High palate, Petechiae, Skin ulcer, Elevated circulating aspartate aminotransferase concentration... |
OMIM:170100 |
Neuraminidase Deficiency |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:256550 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Gastroesophageal reflux, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Chilblain Lupus |
|
Skin ulcer |
ORPHA:90280 |
Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
Necrobiosis Lipoidica |
|
Skin ulcer, Erythema |
ORPHA:542592 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Skin ulcer, Purpura |
ORPHA:743 |
X-Linked Agammaglobulinemia |
|
Malabsorption, Skin ulcer, Glossoptosis, Hepatitis |
ORPHA:47 |
Polyarteritis Nodosa |
|
Skin ulcer, Erythema, Abnormality of the gastrointestinal tract |
ORPHA:767 |
Abetalipoproteinemia |
|
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Steatorrhea, Abnormal circulating ap... |
ORPHA:14 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
Brooke-Spiegler Syndrome |
|
Abnormality of the submandibular glands, Abnormality of the sublingual glands, Skin ulcer, Saliva... |
ORPHA:79493 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Skin vesicle, Skin ulcer |
ORPHA:48104 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:235200 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
Takayasu Arteritis |
|
Gastrointestinal infarctions, Skin ulcer |
ORPHA:3287 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Aplasia/Hypoplasia of the abdominal wall musculature, Gastroschisis, Mac... |
ORPHA:354 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hepat... |
ORPHA:231226 |
Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Pyoderma gangrenosum |
OMIM:616576 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Skin ulcer, Crohn's disease |
ORPHA:69126 |
Diffuse Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Malabsorption, Skin ulcer, Xerostomia, Dysphagia |
ORPHA:220393 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Hepatomegaly |
OMIM:255120 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Flynn-Aird Syndrome |
|
Skin ulcer |
ORPHA:2047 |
Toxic Epidermal Necrolysis |
|
Intestinal perforation, Malabsorption, Skin ulcer, Elevated hepatic transaminase, Tracheoesophage... |
ORPHA:537 |
Prolidase Deficiency |
|
Skin ulcer, Dry skin, Erythema, Hepatomegaly, Splenomegaly |
ORPHA:742 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomegaly, Hepatomegaly |
ORPHA:42 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Jaundice, Skin ulcer, Hepatocellular carcinoma, Hepat... |
ORPHA:231214 |
Acrodermatitis Enteropathica |
|
Malabsorption, Skin ulcer, Glossitis, Erythema, Furrowed tongue, Dry skin |
ORPHA:37 |
Hereditary Spherocytosis |
|
Splenomegaly, Jaundice, Skin ulcer, Pallor, Hepatomegaly, Cholelithiasis |
ORPHA:822 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Skin ulcer |
ORPHA:312 |
Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Jejunal atresia, Death in infancy, Gastroschisis, ... |
ORPHA:989 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatomegaly |
OMIM:201475 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Dyskeratosis Congenita |
|
Anorectal anomaly, Skin vesicle, Cirrhosis, Hepatic failure, Malabsorption, Neoplasm of the pancr... |
ORPHA:1775 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Microscopic Polyangiitis |
|
Skin ulcer, Gastrointestinal hemorrhage, Erythema, Gastrointestinal infarctions, Peritonitis, Pan... |
ORPHA:727 |
Infantile Systemic Hyalinosis |
|
Malabsorption, Skin ulcer, Steatorrhea, Abnormality of the gastrointestinal tract |
ORPHA:2176 |
Werner Syndrome |
|
Lack of skin elasticity, Gastrointestinal carcinoma, Skin ulcer, Miscarriage, Neoplasm of the sma... |
ORPHA:902 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Nail dystrophy |
ORPHA:31150 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
Acquired Purpura Fulminans |
|
Macular purpura, Hepatic failure, Pyoderma gangrenosum |
ORPHA:49566 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... |
ORPHA:363705 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly |
ORPHA:86884 |
Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
Cirrhotic Cardiomyopathy |
|
Left ventricular hypertrophy, Left atrial enlargement, Hepatomegaly, Cardiomegaly, Right atrial e... |
ORPHA:57777 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum, Splenomegaly |
OMIM:150550 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Smith-Lemli-Opitz Syndrome |
|
Short stature, Failure to thrive, Growth delay, Cryptorchidism, Hypocholesterolemia, Elevated 7-d... |
OMIM:270400 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... |
ORPHA:90363 |
Systemic Sclerosis |
|
Gastroesophageal reflux, Gastrointestinal telangiectasia, Abnormal large intestine morphology, Ab... |
ORPHA:90291 |
Dermatoosteolysis, Kirghizian Type |
|
Skin ulcer |
ORPHA:1657 |
Catastrophic Antiphospholipid Syndrome |
|
Gastrointestinal infarctions, Skin ulcer, Miscarriage |
ORPHA:464343 |
Familial Multiple Nevi Flammei |
|
Skin ulcer |
ORPHA:624 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Necrotizing Enterocolitis |
|
Gastroschisis, Peritonitis |
ORPHA:391673 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Cleft palate, Skin vesicle, Skin ulcer |
ORPHA:2314 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
ORPHA:465508 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Calciphylaxis |
|
Skin ulcer |
ORPHA:280062 |
Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
Giant Cell Arteritis |
|
Gastrointestinal infarctions, Hepatic failure, Skin ulcer, Glossitis |
ORPHA:397 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Skin ulcer, Erythema |
ORPHA:659 |
Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Skin ulcer, Erythema |
ORPHA:1334 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin ulcer, Elevated hepatic transaminase, Purpura, Hepatosplenomegaly, Hepatomegaly, Esophageal ... |
OMIM:615688 |
Mogs-Cdg |
|
Left ventricular hypertrophy, Atrial septal defect, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:79330 |
Sandhoff Disease |
|
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
Constricting Bands, Congenital |
|
Bladder exstrophy, Cleft palate, Gastroschisis, Omphalocele |
OMIM:217100 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
Hajdu-Cheney Syndrome |
|
Splenomegaly, Skin ulcer, Intestinal malrotation, Inguinal hernia, Hepatomegaly, Cleft palate, Dr... |
ORPHA:955 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
Sickle Cell Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:603903 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:308552 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum, Recurrent infection of the gastrointestinal tract |
ORPHA:486 |
Pgm3-Cdg |
|
Gastroesophageal reflux, High palate, Skin ulcer, Esophagitis, Lactose intolerance |
ORPHA:443811 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly |
OMIM:608836 |
Juvenile Dermatomyositis |
|
Skin ulcer, Gastrointestinal hemorrhage, Erythema, Dysphagia, Dry skin |
ORPHA:93672 |
Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:608013 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
Congenital Disorder Of Glycosylation, Type It |
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Cardiomegaly, Ventricular septal defect, Hepatomegaly, Dilated cardiomyopathy |
OMIM:614921 |
Duplication Of Urethra |
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Anorectal anomaly, Anal fistula, Gastroschisis, Anal atresia, Rectourethral fistula |
ORPHA:237 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Hepato... |
OMIM:602782 |
Ectodermal Dysplasia-Blindness Syndrome |
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Skin ulcer |
ORPHA:1806 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Fucosidosis |
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Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:230000 |
Familial Keratoacanthoma |
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Skin ulcer |
ORPHA:493 |
Fusariosis |
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Abnormality of the spleen, Skin ulcer, Abnormality of the liver, Peritonitis |
ORPHA:228119 |
Livedoid Vasculopathy |
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Macular purpura, Skin ulcer, Ecchymosis |
ORPHA:542643 |
Truncus Arteriosus |
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Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
Malakoplakia |
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Neoplasm of the rectum, Skin ulcer, Neoplasm of the colon |
ORPHA:556 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy |
ORPHA:228308 |
Absence Of The Pulmonary Artery |
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Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
Hereditary Acrokeratotic Poikiloderma |
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Abnormality of the gastrointestinal tract, Ankyloglossia, Skin ulcer, Xerostomia, Oral leukoplaki... |
ORPHA:2907 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Hepatic fibrosis, Skin ulcer, Hepatosplenomegaly, Ecchymosis, Cholelithiasis, Esophageal varix, A... |
ORPHA:2072 |
Smith-Lemli-Opitz Syndrome |
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Gastroesophageal reflux, Bifid tongue, Abnormality of the gallbladder, Aganglionic megacolon, Pyl... |
ORPHA:818 |
Neutrophilic Dermatosis, Acute Febrile |
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Pyoderma gangrenosum, Erythema |
OMIM:608068 |
Leukocyte Adhesion Deficiency, Type I |
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Skin ulcer, Rectal abscess |
OMIM:116920 |
Congenital Tracheomalacia |
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Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
Immunoglobulin A Vasculitis |
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Skin ulcer, Purpura, Gastrointestinal hemorrhage, Erythema, Gastrointestinal infarctions |
ORPHA:761 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
Iniencephaly |
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Omphalocele, Gastroschisis, Duodenal atresia, Anal atresia |
ORPHA:63259 |
Incontinentia Pigmenti |
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Umbilical hernia, Skin ulcer, Erythema |
ORPHA:464 |
Chronic Graft Versus Host Disease |
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Gastroesophageal reflux, Skin vesicle, Esophageal stricture, Esophageal ulceration, Skin ulcer, E... |
ORPHA:99921 |
Developmental And Epileptic Encephalopathy 95 |
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Cardiomegaly, Hepatomegaly |
OMIM:618143 |
Glycogen Storage Disease Ii |
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Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
Meige Disease |
|
Skin ulcer |
ORPHA:90186 |
Adult Syndrome |
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Skin ulcer, Dry skin |
ORPHA:978 |
Oculocerebrorenal Syndrome Of Lowe |
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Gastroesophageal reflux, Narrow palate, Death in infancy, Malabsorption, Skin ulcer, Inguinal her... |
ORPHA:534 |
Wiskott-Aldrich Syndrome |
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Petechiae, Skin ulcer, Purpura, Inflammation of the large intestine, Hematemesis, Hematochezia |
ORPHA:906 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly |
ORPHA:2463 |
Mucopolysaccharidosis Type 3 |
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Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... |
ORPHA:581 |
Tetraamelia Syndrome 1 |
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Cleft palate, Gastroschisis, Anal atresia, Asplenia |
OMIM:273395 |
Congenital Total Pulmonary Venous Return Anomaly |
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Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
Sweet Syndrome |
|
Inflammation of the large intestine, Skin vesicle, Pyoderma gangrenosum |
ORPHA:3243 |
Granulomatosis With Polyangiitis |
|
Skin ulcer, Purpura, Intestinal obstruction, Gastrointestinal hemorrhage, Pancreatitis |
ORPHA:900 |
Acrofacial Dysostosis 1, Nager Type |
|
Gastroschisis, Cleft palate, Velopharyngeal insufficiency, Aganglionic megacolon |
OMIM:154400 |
Primary Sjögren Syndrome |
|
Biliary cirrhosis, Chronic active hepatitis, Skin ulcer, Purpura, Xerostomia, Parotitis, Chronic ... |
ORPHA:289390 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:618278 |
Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
Plague |
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Splenomegaly, Enterocolitis, Skin ulcer, Glossitis, Inflammation of the large intestine, Hepatome... |
ORPHA:707 |
Blau Syndrome |
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Splenomegaly, Abnormality of the liver, Skin ulcer, Abnormal salivary gland morphology, Xerostomi... |
ORPHA:90340 |
Chime Syndrome |
|
Cleft palate, Skin ulcer, Erythema |
ORPHA:3474 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Penetrating foot ulcers, Tongue atrophy |
ORPHA:99956 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Skin ulcer |
OMIM:245660 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Skin ulcer, Dry skin, Erythema |
ORPHA:221 |
Granulomatosis With Polyangiitis |
|
Skin ulcer |
OMIM:608710 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Scaling skin, Skin ulcer, Dry skin |
ORPHA:2526 |
Ogden Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... |
OMIM:300855 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:137675 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:365 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:130650 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Ventral hernia, High palate, Inguinal hernia, Redundant skin, Umbilical hernia |
OMIM:618000 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
Amoebiasis Due To Free-Living Amoebae |
|
Skin ulcer |
ORPHA:68 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Intestinal perforation, Abnormality of the anus, Skin ulcer, Elevated hepatic transaminase, Xeros... |
ORPHA:95455 |
Angioosteohypertrophic Syndrome |
|
Skin ulcer, Gastrointestinal hemorrhage |
ORPHA:2346 |
Atypical Werner Syndrome |
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Lack of skin elasticity, Skin ulcer, Hepatic steatosis, Neoplasm of the small intestine |
ORPHA:79474 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hepatosplenomegaly |
ORPHA:51 |
Cushing Disease |
|
Skin ulcer, Purpura, Striae distensae, Ecchymosis |
ORPHA:96253 |
Leprosy |
|
Abnormality of the liver, Abnormality of the spleen, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Malignant gastrointestinal tract tumors, Striae distensae, Neoplasm of... |
ORPHA:99889 |
Blau Syndrome |
|
Skin ulcer |
OMIM:186580 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Patent foramen ovale, Dilatation of the ventricular cavity, Ventricu... |
OMIM:619991 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenome... |
ORPHA:116 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy |
ORPHA:3472 |
Williams Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Bicuspid aortic valve, Mitral valv... |
ORPHA:904 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:256040 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Widened atrophic scar, Alopecia, Ventral hernia, Cellulitis, Inguinal hernia, Cryptorchidism, Hyp... |
ORPHA:536532 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
Leukocyte Adhesion Deficiency |
|
Peritonitis, Pyoderma gangrenosum, Perianal abscess |
ORPHA:2968 |
Split Cord Malformation |
|
Penetrating foot ulcers |
ORPHA:573278 |