Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601820 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:256450 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Failure to thrive in infancy |
OMIM:619175 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites |
ORPHA:890 |
Obesity And Hypopigmentation |
|
Overgrowth, Hepatic steatosis, Obesity |
OMIM:620195 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Tall stature |
OMIM:618406 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Cardiomegaly |
ORPHA:88643 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor |
OMIM:613561 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice, Pallor |
OMIM:615631 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:848 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Obesity |
OMIM:614845 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Adiposis Dolorosa |
|
Obesity |
OMIM:103200 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:163596 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Hepatomegaly, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis |
ORPHA:71526 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelithiasis |
OMIM:266200 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Large for gestational age |
ORPHA:293964 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Obesity |
ORPHA:329249 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
Congenital Heart Block |
|
Patent ductus arteriosus, Pallor |
ORPHA:60041 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor |
ORPHA:90037 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor, Hepatosplenomegaly |
OMIM:611590 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3226 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:75564 |
Bardet-Biedl Syndrome 21 |
|
Elevated hepatic transaminase, Overweight, Obesity |
OMIM:617406 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3386 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, Hepatosplenomegaly, Hepatic... |
ORPHA:231226 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Jaundice, Pallor |
ORPHA:90033 |
Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:822 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased body weight |
OMIM:614450 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, Hepatic fibr... |
ORPHA:231214 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Elevated hepatic iron concentration, Pallor, Hepatosplenomegaly |
ORPHA:300298 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Obesity, Cholestasis |
OMIM:616629 |
Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pallor, Petechiae, Purpura |
ORPHA:90051 |
Joubert Syndrome 8 |
|
Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Increased body weight |
ORPHA:94086 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Pallor |
ORPHA:98870 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth |
OMIM:605309 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Cholestasis, I... |
ORPHA:264580 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
Fanconi Anemia, Complementation Group I |
|
Pallor |
OMIM:609053 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Erythema, Macronodular cirrhosi... |
OMIM:557000 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Hepatomegaly, Pallor, Purpura |
ORPHA:33226 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:134 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Increased body... |
ORPHA:79240 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age |
OMIM:616026 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:98849 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Pallor |
OMIM:606812 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Cholestasis |
OMIM:609734 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Cholangitis, Splenomegaly, Chronic hepatitis, Hepatosplenomegaly, ... |
ORPHA:3260 |
Mody |
|
Large for gestational age, Overweight, Hepatocellular adenoma, Obesity, Pancreatic hypoplasia, Ex... |
ORPHA:552 |
Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
Smith-Magenis Syndrome |
|
Increased body weight |
OMIM:182290 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Increased body weight |
ORPHA:97279 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity |
ORPHA:412 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Incontinentia Pigmenti |
|
Erythema, Pallor |
OMIM:308300 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
Sotos Syndrome |
|
Overgrowth, Increased body weight, Tall stature, Prolonged neonatal jaundice |
OMIM:117550 |
Degcags Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Cholestasis, Hepatosplenomegaly, Abnormal spleen morpholo... |
OMIM:619488 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts |
ORPHA:892 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Annular pancreas, Anemic pallor |
OMIM:227646 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:667 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
Bardet-Biedl Syndrome 12 |
|
Abdominal mass, Obesity |
OMIM:615989 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Abdominal obesity, Hepatic steatosis, Increased body weight |
ORPHA:189427 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Pancreatitis |
ORPHA:544482 |
Diamond-Blackfan Anemia 1 |
|
Spina bifida occulta, Pallor |
OMIM:105650 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor |
OMIM:227650 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Increased body weight,... |
ORPHA:2298 |
Fanconi Anemia, Complementation Group C |
|
Anemic pallor |
OMIM:227645 |
Adrenocortical Carcinoma |
|
Increased body weight, Weight loss |
ORPHA:1501 |
Diamond-Blackfan Anemia |
|
Pallor |
ORPHA:124 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Increased body weight |
ORPHA:398069 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Increased body weight |
ORPHA:244242 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Patent ductus arteriosus, Pallor |
ORPHA:99125 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Cushing Disease |
|
Truncal obesity, Abdominal obesity, Increased body weight |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pancreatic adenocarcinoma, Pancreatoblastoma, Increased body weight, Weight loss, Truncal obesity... |
ORPHA:99889 |
Carney Complex |
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Neoplasm of the pancreas, Increased body weight, Abdominal obesity, Hepatocellular carcinoma, Tal... |
ORPHA:1359 |
Gastric Cancer |
|
|
OMIM:613659 |
Prostate Cancer |
|
|
OMIM:176807 |