Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... |
ORPHA:541423 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
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Atrial septal defect, Dermal translucency |
OMIM:619115 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
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Dermal translucency |
OMIM:619120 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Dermal translucency |
ORPHA:529965 |
Pilarowski-Bjornsson Syndrome |
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Dermal translucency |
OMIM:617682 |
Cutis Laxa, Autosomal Dominant 3 |
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Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
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Cryptorchidism, Excessive wrinkled skin, Cutis laxa, Dermal translucency |
OMIM:614438 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
De Barsy Syndrome |
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Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cutis laxa, Excessive wrinkl... |
ORPHA:2962 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
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Hydrocele testis, Dermal translucency |
OMIM:137940 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
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Cutis laxa, Dermal translucency |
OMIM:615349 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... |
OMIM:617506 |
Dietary Iron Overload Disease |
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Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
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Redundant skin, Dermal translucency |
OMIM:225410 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
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Thrombocytopenia, Bone marrow hypocellularity, Anemia, Dermal translucency |
OMIM:612199 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
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Pulmonic stenosis, Dermal translucency |
OMIM:618343 |
Immunodeficiency 19 |
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T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Barber-Say Syndrome |
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Absent nipple, Redundant skin, Cryptorchidism, Hypoplastic nipples, Premature skin wrinkling, Dry... |
OMIM:209885 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Mitral valve prolapse, Dermal translucency |
ORPHA:536467 |
Fontaine Progeroid Syndrome |
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Atrial septal defect, Absent nipple, Bicuspid aortic valve, Redundant skin, Cryptorchidism, Paten... |
OMIM:612289 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Malformation of the hepatic ductal plate... |
OMIM:208540 |
Autosomal Dominant Cutis Laxa |
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Redundant neck skin, Redundant skin, Dilatation of the ventricular cavity, Cutis laxa, Premature ... |
ORPHA:90348 |
Loeys-Dietz Syndrome 1 |
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Bicuspid aortic valve, Patent ductus arteriosus, Bicuspid pulmonary valve, Mitral valve prolapse,... |
OMIM:609192 |
Restrictive Dermopathy |
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Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Transpos... |
ORPHA:1662 |
Fibromuscular Dysplasia, Multifocal |
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Striae distensae, Dermal translucency |
OMIM:619329 |
Perlman Syndrome |
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Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism |
ORPHA:2849 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Patent ductus arteriosus, Bicuspid pulmonary valve, Mitral valve prolapse,... |
OMIM:610168 |
Wiedemann-Rautenstrauch Syndrome |
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Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital malformation of... |
ORPHA:3455 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Cutis laxa, Dermal translucency |
OMIM:614437 |
Loeys-Dietz Syndrome 3 |
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Ventricular hypertrophy, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, ... |
OMIM:613795 |
Congenital Alveolar Capillary Dysplasia |
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Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Mitral valve prolapse, Ecchymosis, Anemia, Dermal translucency |
OMIM:130050 |
Duodenal Atresia |
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Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Pearson Marrow-Pancreas Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
Martinez-Frias Syndrome |
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Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal heart valve morphology, Redundant skin, Cryptorchidism, Mitral valve prolapse, Excessive... |
ORPHA:286 |
Annular Pancreas |
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Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
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Annular pancreas |
OMIM:167750 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Mitchell-Riley Syndrome |
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Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... |
OMIM:615710 |
Pancreatitis, Hereditary |
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Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency |
OMIM:167800 |
Aceruloplasminemia |
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Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Hepatic fibrosis,... |
ORPHA:48818 |
Shwachman-Diamond Syndrome 2 |
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Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... |
OMIM:617941 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Matthew-Wood Syndrome |
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Cryptorchidism, Annular pancreas, Abnormal spleen morphology, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Feingold Syndrome |
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Patent ductus arteriosus, Abnormality of the spleen, Annular pancreas |
ORPHA:1305 |
Fanconi Anemia, Complementation Group D2 |
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Pancytopenia, Anemic pallor, Cryptorchidism, Patent ductus arteriosus, Reticulocytopenia, Abnorma... |
OMIM:227646 |
Pearson Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, ... |
ORPHA:699 |
Glycogen Storage Disease Ib |
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Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepa... |
OMIM:232220 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Abnormal pancreas morphology, Enlarged lacri... |
ORPHA:449432 |
Igg4-Related Thyroid Disease |
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Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
Acrocephalopolydactylous Dysplasia |
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Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
Immunodeficiency 17 |
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Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... |
OMIM:615607 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, A... |
OMIM:265380 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Redundant skin, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morph... |
ORPHA:116 |
Gaisböck Syndrome |
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Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... |
ORPHA:90041 |
1P36 Deletion Syndrome |
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Abnormal heart valve morphology, Abnormality of the spleen, Patent ductus arteriosus, Dilated car... |
ORPHA:1606 |
Radio-Tartaglia Syndrome |
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Dry skin, Ventricular septal defect, Striae distensae |
OMIM:619312 |