| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc, Eczema |
OMIM:608118 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc, Skin rash |
OMIM:601979 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis |
ORPHA:88643 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
| Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Diarrhea 13 |
|
Hypoalbuminemia |
OMIM:620357 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... |
ORPHA:79230 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... |
ORPHA:446 |
| Chylous Ascites |
|
Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Decreased circulating cerul... |
ORPHA:171851 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circulating asparta... |
OMIM:619386 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Elevated circulating creatinine concentration... |
OMIM:620366 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
| Mahvash Disease |
|
Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia |
OMIM:619290 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis |
OMIM:145980 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia |
OMIM:615008 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Hyperlipoproteinemia, Type Id |
|
Hyperlipoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia... |
OMIM:615947 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Parathyroid carcinoma, Recurrent p... |
OMIM:145001 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Decreased serum zinc, Decreased testicular size |
OMIM:201100 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat... |
OMIM:618805 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Recurrent skin infections, Anal fissure, Abnormal circulating selenium conce... |
ORPHA:89842 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Hereditary Chronic Pancreatitis |
|
Jaundice, Recurrent pancreatitis, Pancreatic calcification, Elevated circulating C-reactive prote... |
ORPHA:676 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis |
OMIM:145981 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Abnormal intestine morphology |
ORPHA:209981 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Pancreatitis, Hyperammonemia |
OMIM:620137 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho... |
ORPHA:69663 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Slc39A8-Cdg |
|
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration |
ORPHA:468699 |
| Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... |
OMIM:167800 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
| Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se... |
OMIM:602390 |
| Alg1-Cdg |
|
Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia, Joint hypermobility |
OMIM:619013 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste... |
OMIM:606069 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr... |
OMIM:616050 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Hyperammonemia |
ORPHA:289916 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Hyperammonemia |
ORPHA:79312 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin |
OMIM:618528 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration |
ORPHA:79320 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:617395 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Immunodeficiency 27A |
|
Salmonella osteomyelitis, Hypoalbuminemia |
OMIM:209950 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... |
ORPHA:766 |
| Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... |
ORPHA:435934 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Seborrheic dermatitis |
OMIM:121270 |
| Maple Syrup Urine Disease |
|
Elevated circulating branched chain amino acid concentration, Pancreatitis, Elevated circulating ... |
OMIM:248600 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis, Hyperammonemia |
ORPHA:27 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:615234 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... |
OMIM:600740 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Abnormality of iron homeostasis, Cholelithiasis |
ORPHA:848 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Tubulointerstitial nephritis, Hyperglycinem... |
OMIM:251000 |
| Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Acne |
ORPHA:1551 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Hypoalbuminemia, Camptodactyly |
OMIM:608104 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Abnormal circulating carnitine concentration, Aspiration pneumonia, Decreased circulating carniti... |
ORPHA:431361 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
OMIM:308240 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Cach Syndrome |
|
Nonketotic hyperglycinemia, Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Hypocalcemia, Osteopetrosis, Pat... |
OMIM:259700 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infecti... |
ORPHA:549 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Cirrhosis, H... |
ORPHA:79083 |
| Mpi-Cdg |
|
Hypoalbuminemia |
ORPHA:79319 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:2070 |
| Propionic Acidemia |
|
Hepatomegaly, Eczema, Hyperammonemia, Hyperglycinemia, Pancreatitis |
OMIM:606054 |
| Acute Lung Injury |
|
Acute pancreatitis, Increased circulating surfactant protein level, Pneumonia, Elevated circulati... |
ORPHA:178320 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:616860 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreat... |
ORPHA:2348 |
| Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia... |
ORPHA:521219 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron, Chronic oral candidiasis |
OMIM:212050 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Leishmaniasis |
|
Hypoalbuminemia |
ORPHA:507 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
ORPHA:412 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... |
ORPHA:300298 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Arthritis, Hypoalbuminemia, ... |
ORPHA:247353 |
| Immunodeficiency 32B |
|
Hypoalbuminemia |
OMIM:226990 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlipidemia, Hepatosplen... |
ORPHA:444490 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... |
OMIM:239000 |
| Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Splenomegaly, Lymphadenitis, Recurren... |
OMIM:618935 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hyperhomocystinemia, High palate, Hypermethioninemia, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, G... |
OMIM:232220 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... |
ORPHA:36913 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Increased circulating ferrit... |
ORPHA:465508 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Anal fissure, Glomerulonephritis, Gastrointestinal inflammation, Decre... |
ORPHA:79408 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Hypoalbuminemia |
ORPHA:367 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pancreatitis |
ORPHA:70578 |
| Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis |
OMIM:614602 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia |
OMIM:617021 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis, Colonic stenosi... |
ORPHA:90038 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia |
OMIM:602579 |
| Avian Influenza |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... |
ORPHA:454836 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, A... |
ORPHA:171 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Rec... |
ORPHA:101330 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Ovarian cyst, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Hypermagnesemia, Pancreatitis, Hypocalcemic ... |
ORPHA:405 |
| Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:1667 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Polycystic ovaries, Panniculitis, Cirrhos... |
ORPHA:79086 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:48818 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:235200 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia... |
ORPHA:94089 |
| Bacterial Toxic-Shock Syndrome |
|
Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinin... |
ORPHA:36234 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Gout, Hyperuricemia, Hepatocellular ... |
OMIM:232200 |
| Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis |
ORPHA:188 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
| Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Osteopo... |
ORPHA:186 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Biliary cirrhosis, Bro... |
OMIM:219700 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hyperammonemia |
ORPHA:292 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Osteomalacia, Osteoarthritis, Os... |
OMIM:277900 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Flexion contracture, Hypoalbuminemia, Hypocholesterolemia |
OMIM:212065 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... |
OMIM:619487 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:251880 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Hypoalbuminemia |
OMIM:617303 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Abnormal circulating albumin concentration |
ORPHA:86839 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating luteinizi... |
OMIM:617253 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hyp... |
ORPHA:14 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Intestinal obstruction, Pericarditis, Skin rash, Malabsorption, Orchitis, ... |
ORPHA:342 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... |
OMIM:617156 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenomegaly,... |
ORPHA:231226 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce... |
OMIM:300972 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hypothyroidism, Hyperlipidemia, Hepatocellular adenoma, Enter... |
ORPHA:79259 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
| Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Abnormal bone ossification, Hypocholesterolemia, Camptodactyly |
ORPHA:79324 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Coronal craniosynostosis, Joint contracture of the hand, Hypoalbuminemia, Camptodactyly |
OMIM:235510 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Hypoalbuminemia |
OMIM:618329 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Minimal change glomerulonephritis, Hyperlipidemia, Abnormal in... |
ORPHA:1830 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Hypercalcemia, Primary hyperparathy... |
ORPHA:99880 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Ade... |
ORPHA:733 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Recurrent otitis media, Hypothyroidism, Recurrent skin infections, Decreased serum iron |
ORPHA:391372 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Osteomyelitis, Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, D... |
ORPHA:37042 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Hypercalcemia, Primary hyperparathy... |
ORPHA:143 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Polycy... |
ORPHA:280365 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Abnormality of the pancreas, Splenomegaly, Jaundice, Cholestasis, ... |
OMIM:222470 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Rickets, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, U... |
OMIM:613658 |
| Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly, Hepa... |
ORPHA:231214 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper... |
ORPHA:98870 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia |
ORPHA:67 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Elevated circulating creatine kinase concentr... |
ORPHA:565612 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Osteopetrosis |
ORPHA:3240 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr... |
ORPHA:449427 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Osteoarthritis, Osteolysis, Pathologic fracture |
ORPHA:77259 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Hypoalbuminemia |
ORPHA:85443 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... |
OMIM:618476 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... |
OMIM:259720 |
| Galloway-Mowat Syndrome 1 |
|
Joint contracture of the hand, Hypoalbuminemia, Camptodactyly |
OMIM:251300 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Elevated circulating C-reactive protein concentration, Retroperitoneal fi... |
ORPHA:449563 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Gastritis, Pericarditis, Pustule, Myocarditis, Peritonitis, Infectious ence... |
ORPHA:73263 |
| Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Hypercholesterolemia, Pancreatitis, Elevated hepatic transaminase |
OMIM:619471 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipples, Recurrent pancreatiti... |
OMIM:618268 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia |
OMIM:610965 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
| Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Osteoarthritis, Hypotriglyceridemia, Hypoalbuminem... |
ORPHA:2298 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Megaduodenum, Microcolon |
OMIM:155310 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Pneumonia, Intestinal perforation, Myocarditis, Hyperkalemia, Hypocalcemia, Septic ... |
ORPHA:544482 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
| Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Hypoalbuminemia, Joint stiffness |
ORPHA:505248 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Chronic pancreatitis, Hyperlipidemia, Gout, Inflammation of the large i... |
OMIM:232240 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia |
OMIM:254900 |
| Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Malabsorption, Orchitis, Splenomeg... |
ORPHA:117 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
| Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... |
ORPHA:228123 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Craniosynostosis |
ORPHA:79396 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... |
OMIM:131300 |
| Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Elevated circulating creatinine concentration, Crescentic glomerulonephritis,... |
ORPHA:93126 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Malabsorption, Intestinal perforation, Trac... |
ORPHA:537 |
| Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Intestinal obstruction, Sinusitis, Pericarditis, Skin rash, Elev... |
ORPHA:900 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm... |
OMIM:222700 |
| Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Reduced bone... |
ORPHA:89936 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabso... |
ORPHA:3260 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79444 |
| Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Splenomegaly, Abnormality of the liver, Colitis, Hypopl... |
ORPHA:84064 |
| Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Pericarditis, Maculopapular exanthema, Elevated circulating creati... |
ORPHA:99826 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... |
ORPHA:79443 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
| Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Esophageal stricture, Conjunctivitis, Pancr... |
ORPHA:36426 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
| Desmosterolosis |
|
Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Arthrogryposis multip... |
OMIM:602398 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Elevated circulat... |
ORPHA:355 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration |
OMIM:620306 |
| Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,... |
OMIM:259775 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Pineal c... |
ORPHA:98908 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Arthritis, Hy... |
OMIM:619381 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
| Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone |
ORPHA:2905 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... |
ORPHA:90652 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis |
ORPHA:33364 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia |
ORPHA:79076 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Cryptorchidism, Adrenal insufficiency |
OMIM:307030 |
| Smith-Lemli-Opitz Syndrome |
|
Epiphyseal stippling, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, H... |
OMIM:270400 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Elevated circulating creatine kinase concentration, Orchitis, S... |
ORPHA:99827 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
| Melas |
|
Hypoparathyroidism, Hypothyroidism, Intestinal pseudo-obstruction, Recurrent pancreatitis |
ORPHA:550 |
| Yellow Fever |
|
Acute pancreatitis, Skin rash, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:99829 |
| Scorpion Envenomation |
|
Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate... |
ORPHA:466677 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis |
ORPHA:35687 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Limitation of joint... |
ORPHA:79474 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated... |
OMIM:619534 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Generalized osteosclerosis |
ORPHA:416 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Hypocalcemia, Osteopetrosis,... |
ORPHA:667 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased serum iron |
OMIM:616959 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
| Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Hypercalcemia, Elevated circulating cre... |
ORPHA:904 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Hypocalcemia, Recurrent fractures, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
| Occipital Horn Syndrome |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hi... |
OMIM:304150 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia |
ORPHA:75565 |
| Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia, Recurrent pancreatitis |
OMIM:606721 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Hepatic fi... |
ORPHA:64 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Reduced thyroxin-binding globulin, Osteopo... |
ORPHA:79318 |
| Acute Transverse Myelitis |
|
Paralytic ileus, Decreased circulating copper concentration |
ORPHA:139417 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones |
OMIM:269150 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Jaundice, Unconjugated hyperbilirubinemia, Increased blood urea nitrogen, R... |
ORPHA:447 |
| Wrinkly Skin Syndrome |
|
Cryptorchidism, High palate, High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Cryptorchidism, Abnormality of the anterior pituitary, Aspiration pneumonia... |
ORPHA:438213 |
| Myopia 24, Autosomal Dominant |
|
|
OMIM:615946 |
