Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
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Dermal translucency, Atrial septal defect |
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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Pancreatic islet-cell hyperplasia, Nesidioblastosis |
OMIM:601820 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
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Dermal translucency |
ORPHA:529965 |
Liver Disease, Severe Congenital |
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Hydrocele testis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Ventricular s... |
OMIM:619991 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
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Excessive wrinkled skin, Dermal translucency, Cryptorchidism, Cutis laxa |
OMIM:614438 |
De Barsy Syndrome |
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Cutis laxa, Excessive wrinkled skin, Ventricular septal defect, Patent ductus arteriosus, Dermal ... |
ORPHA:2962 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
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Dermal translucency, Hydrocele testis |
OMIM:137940 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Pat... |
OMIM:617506 |
African Iron Overload |
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Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Barber-Say Syndrome |
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Absent nipple, Redundant skin, Dry skin, Hypoplastic nipples, Premature skin wrinkling, Dermal tr... |
OMIM:209885 |
Fontaine Progeroid Syndrome |
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Absent nipple, Bicuspid aortic valve, Atrial septal defect, Left ventricular hypertrophy, Redunda... |
OMIM:612289 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Dermal translucency, Mitral valve prolapse |
ORPHA:536467 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Aortic valve stenosis, Atrial septal defect, Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fi... |
OMIM:208540 |
Autosomal Dominant Cutis Laxa |
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Cutis laxa, Redundant skin, Premature skin wrinkling, Dermal translucency, Dilatation of the vent... |
ORPHA:90348 |
Loeys-Dietz Syndrome 1 |
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Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Bicuspid pulmonary valve, Pat... |
OMIM:609192 |
Restrictive Dermopathy |
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Atrial septal defect, Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductu... |
ORPHA:1662 |
Fibromuscular Dysplasia, Multifocal |
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Dermal translucency, Striae distensae |
OMIM:619329 |
Wiedemann-Rautenstrauch Syndrome |
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Decreased response to growth hormone stimulation test, Dysplastic pulmonary valve, Pulmonic steno... |
ORPHA:3455 |
Loeys-Dietz Syndrome 2 |
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Bicuspid aortic valve, Atrial septal defect, Mitral valve prolapse, Bicuspid pulmonary valve, Pat... |
OMIM:610168 |
Perlman Syndrome |
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Cryptorchidism, Abnormal pancreas morphology, Hepatomegaly |
ORPHA:2849 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Hepatomegaly, Lymphopenia, Pallor, Hepatosplenomegaly, Eosinophilia, Abnor... |
ORPHA:331206 |
Loeys-Dietz Syndrome 3 |
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Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mit... |
OMIM:613795 |
Ehlers-Danlos Syndrome, Vascular Type |
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Cryptorchidism, Mitral valve prolapse, Ecchymosis, Dermal translucency, Anemia |
OMIM:130050 |
Congenital Alveolar Capillary Dysplasia |
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Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic va... |
ORPHA:210122 |
Duodenal Atresia |
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Annular pancreas, Abnormality of the pancreas |
ORPHA:1203 |
Pearson Marrow-Pancreas Syndrome |
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Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... |
OMIM:557000 |
Mitchell-Riley Syndrome |
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Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Vascular Ehlers-Danlos Syndrome |
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Excessive wrinkled skin, Redundant skin, Mitral valve prolapse, Dermal translucency, Abnormal hea... |
ORPHA:286 |
Martinez-Frias Syndrome |
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Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct... |
OMIM:601346 |
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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Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Pancreatic calcification, P... |
ORPHA:103918 |
Pancreatitis, Hereditary |
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Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification |
OMIM:167800 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
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Double outlet right ventricle, Hypoparathyroidism, Atrial septal defect, Decreased response to gr... |
OMIM:618223 |
Shwachman-Diamond Syndrome 2 |
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Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Normocytic anemia, Neut... |
OMIM:617941 |
Matthew-Wood Syndrome |
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Annular pancreas, Abnormal spleen morphology, Cryptorchidism, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Neutropenia, Cryptorchidism, Anemic pallor, Thrombocytopenia, Patent ductus art... |
OMIM:227646 |
Feingold Syndrome |
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Annular pancreas, Patent ductus arteriosus, Abnormality of the spleen |
ORPHA:1305 |
Pearson Syndrome |
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Hypoparathyroidism, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Decreased respo... |
ORPHA:699 |
Glycogen Storage Disease Ib |
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Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Elevated... |
OMIM:232220 |
Igg4-Related Submandibular Gland Disease |
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Abnormal pancreas morphology, Sialadenitis, Eosinophilia, Abnormal salivary gland morphology, Ret... |
ORPHA:449432 |
Aceruloplasminemia |
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Refractory anemia, Abnormal pancreas morphology, Hypochromic microcytic anemia, Elevated hepatic ... |
ORPHA:48818 |
Igg4-Related Thyroid Disease |
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Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Sclerosi... |
ORPHA:64744 |
Acrocephalopolydactylous Dysplasia |
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Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Hepatomegaly |
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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Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Hypoplast... |
OMIM:265380 |
Beckwith-Wiedemann Syndrome |
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Exocrine pancreatic insufficiency, Abnormal pancreas morphology, Hepatomegaly, Hepatoblastoma, Cr... |
ORPHA:116 |
Gaisböck Syndrome |
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Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
1P36 Deletion Syndrome |
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Annular pancreas, Abnormal cardiac septum morphology, Abnormality of the spleen, Tetralogy of Fal... |
ORPHA:1606 |
Radio-Tartaglia Syndrome |
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Ventricular septal defect, Striae distensae, Dry skin |
OMIM:619312 |