Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Inc... |
ORPHA:94086 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Obesity, Hypocalcemia |
OMIM:603233 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hepatomega... |
OMIM:619868 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Hyp... |
OMIM:246700 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Obesity, Hypocalcemia, Ectopic ossification |
ORPHA:79445 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Failure to thrive, Increased circulating creatine kinase MM isoform, Hypoalbu... |
OMIM:613752 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Metacarpal periosteal thickening, Calvarial osteosclerosis, Osteopenia, Hyperc... |
OMIM:617994 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... |
OMIM:241520 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
Refractory Celiac Disease |
|
Weight loss, Normocytic anemia, Hypophosphatemia, Abnormal spleen physiology, Increased proportio... |
ORPHA:398063 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia, Bone cyst |
ORPHA:2668 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hepatomegaly, Hypocalcemia, Splenomegaly, Reduced bone mineral density |
ORPHA:172 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Osteopenia |
OMIM:617343 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Hypophosphatasia |
|
Anemia, Recurrent fractures, Craniosynostosis, Hypercalcemia, Failure to thrive in infancy |
ORPHA:436 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Obesity, Osteoporosis |
OMIM:612462 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia, Hepatomegaly |
ORPHA:2123 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypokalemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Pancytopenia, Failure to thrive, Increased circulating... |
OMIM:616050 |
Immunodeficiency 27A |
|
Anemia, Weight loss, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Salmonella osteomyelitis, ... |
OMIM:209950 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hyperphosphatemia, Increased bone mineral density, Hypocalcemic seizures, Hy... |
ORPHA:36913 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity, Hypercholesterolemia |
OMIM:608320 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Hypocalcemia, ... |
ORPHA:210110 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Failure ... |
OMIM:267700 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Obesity, Osteoporosis, Subcutaneous ossification |
OMIM:103580 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Hypercholesterolemia, Hy... |
OMIM:612526 |
Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Anemia, Transient hypophosphatemia, Small for gestational age, Increased bone ... |
OMIM:127000 |
Rhabdoid Tumor |
|
Anemia, Thrombocytopenia, Hypercalcemia, Weight loss |
ORPHA:69077 |
Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Hypocalcemic tetany, Calcinosis, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophilia, Hepatomegaly, Impaired oxid... |
OMIM:226990 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypoglycemia, Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Failure t... |
OMIM:232700 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia |
OMIM:304800 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Failure to thrive, Increased circulating 18-hydr... |
OMIM:610600 |
Leishmaniasis |
|
Leukopenia, Anemia, Weight loss, Abnormal macrophage morphology, Pancytopenia, Hepatomegaly, Thro... |
ORPHA:507 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Increased bone mineral density, Ankylosis,... |
OMIM:239000 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Hypoalbumi... |
OMIM:618805 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Generalized osteoporosis, Hypercalcemia, Osteopenia |
ORPHA:99879 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased body weight, Abnormal circulating fatty-acid ... |
ORPHA:2298 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616267 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... |
OMIM:615751 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A... |
OMIM:618858 |
Calciphylaxis |
|
Hyperphosphatemia, Ectopic ossification |
ORPHA:280062 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia, Osteopenia |
OMIM:619073 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Diabetes mellitus, Ectopic ossification |
OMIM:602475 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis, Failure to thrive |
OMIM:615198 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Failure to thrive, Hypoglycem... |
ORPHA:3008 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Calvarial osteosclerosis, Osteopetrosis, Increased bone mineral density, P... |
OMIM:259700 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Failure to thrive... |
OMIM:613845 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Hyponatremia |
OMIM:616949 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia, Craniosynostosis, Osteopenia |
OMIM:614732 |
Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Failure to thriv... |
OMIM:603553 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Ankle flexion contracture, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Increased bone density with cystic changes, I... |
ORPHA:94089 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
Hyperparathyroidism, Neonatal Severe |
|
Anemia, Recurrent fractures, Calcinosis, Hypophosphatemia, Failure to thrive, Hypercalcemia, Hepa... |
OMIM:239200 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia |
OMIM:614736 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, We... |
ORPHA:103910 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity, Hyperlipidemia |
ORPHA:329249 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Increased susceptibility to fractures, Anemia, Unossified vertebra... |
OMIM:241500 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
Late-Onset Isolated Acth Deficiency |
|
Generalized bone demineralization, Hyperuricemia, Weight loss, Normocytic anemia, Decreased circu... |
ORPHA:199299 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Pulmonic stenosis, Hypernatremia, Ventricular septal defect |
OMIM:615508 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:606176 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Neutropenia, Juvenile rheumatoid arthritis, Increased... |
ORPHA:158061 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Pancytopenia, Thrombocytopenia, Hemophagocytosis, Elevated circulating C-reactive ... |
OMIM:308240 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Joint hypermobility, Hypertriglyceridemia, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Large for gestational age, Rickets, Diabetes mellitus, Hypoglycemia... |
OMIM:616026 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Increased LDL cholesterol concentration, ... |
OMIM:615703 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Failu... |
ORPHA:556037 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Neonatal insulin-dependent diabetes mellitus, Decreased body weigh... |
ORPHA:1667 |
Isolated Osteopoikilosis |
|
Tarsal sclerosis, Abnormal bone ossification, Increased bone mineral density, Sclerosis of foot b... |
ORPHA:166119 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Failure to thrive, Decreased LDL cholesterol concentration, Decreased HDL ch... |
OMIM:616834 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Enlarged kidney, Increased blood urea nitrogen, Episodic hemolytic anemia, H... |
ORPHA:251004 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, Hepatomegaly, H... |
OMIM:266510 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating selenium concentration, Obesity |
ORPHA:171706 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremia |
ORPHA:223 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Rickets, Hypophosphatemia, Hypophosphatemic rickets, Osteomalacia |
OMIM:193100 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Failu... |
ORPHA:556030 |
Hypophosphatemic Bone Disease |
|
Rickets, Hypophosphatemia, Osteomalacia |
OMIM:146350 |
Congenital Analbuminemia |
|
Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... |
ORPHA:86816 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Failure to thrive, Hyponatremia |
OMIM:177735 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Perimembranous ventricular septal defect, Camptodactyly, Failure to thrive, Hepatomegaly,... |
OMIM:608104 |
Eosinophilic Gastroenteritis |
|
Anemia, Weight loss, Steatorrhea, Elevated circulating C-reactive protein concentration, Leukocyt... |
ORPHA:2070 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypocalcemia, Hypoglycemia |
ORPHA:163693 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Rickets, Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis |
OMIM:211900 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Rickets, Failure to thrive, Hepatomegaly, Hypocholesterolemia, Splenomegaly, Conjuga... |
OMIM:607765 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Hypophosphatemia, Rickets, Iron deficiency anemia, Hypocalcemia |
ORPHA:89937 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hypocalcemia, Hyperkalemia, Hyperphosphatemia |
ORPHA:99845 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Hyponatremia |
ORPHA:178029 |
Primary Intestinal Lymphangiectasia |
|
Anemia, Reduced proportion of CD4+ effector memory T cells, Weight loss, Pericardial effusion, Ly... |
ORPHA:90362 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Failure to thrive, Hyperaldosteronism, Hyperkalemia, Hyponatremia |
OMIM:264350 |
Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypoalbuminemia |
ORPHA:79319 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Alg1-Cdg |
|
Cardiomyopathy, Abnormal heart morphology, Limitation of joint mobility, Hypoalbuminemia |
ORPHA:79327 |
Alg6-Cdg |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:100025 |
Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Small for gestational age, Abnormal heart morphology, Leukocytosis,... |
ORPHA:391673 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemic seizures,... |
ORPHA:199296 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Osteolysis, Osteosclerosis of the ulna, Hypercalcemia, Scl... |
OMIM:602080 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Type II diabetes mellitus, Obesity, Hypertrigl... |
ORPHA:71529 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Fanconi-Bickel Syndrome |
|
Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Rickets, Failure to thrive, Diabetes me... |
ORPHA:2088 |
Multiple Myeloma |
|
Anemia, Weight loss, Hypercalcemia, Osteopenia, Tall stature, Elevated circulating creatinine con... |
ORPHA:29073 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Hyperphosphatemia, Obesity, Recurrent fractures |
ORPHA:457059 |
Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Hypercalcemia, Osteopenia, Weight loss |
ORPHA:97289 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Calcinosis, Increased bone mineral ... |
ORPHA:79444 |
Infantile Myofibromatosis |
|
Osteolysis, Hypercalcemia, Limitation of joint mobility, Bone cyst |
ORPHA:2591 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia |
ORPHA:2323 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Osteomyelitis, Weight loss, Hyperkalemia, ... |
ORPHA:171876 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated circulating... |
ORPHA:247598 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Increased susceptibility to fractures, Hypophosphatemia, Osteopenia, Osteoporosis |
OMIM:612287 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology, Tal... |
ORPHA:3152 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia |
OMIM:618347 |
Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
Hepatocellular Carcinoma |
|
Anemia, Weight loss, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hy... |
ORPHA:88673 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Type II diabetes mellitus, Increased LDL cholesterol concentration, Tru... |
OMIM:615812 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Elbow flexion contracture, Hypercalcemia, Hepatomegaly, Hypocalcemia, ... |
OMIM:618440 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Calvarial osteosclerosis, Cortical thickening of ... |
ORPHA:93325 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, Osteomyelitis, T lymphocytopenia, Weight loss, Osteoma... |
OMIM:619381 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure... |
OMIM:600081 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetral... |
OMIM:601005 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Osteomyelitis, Recurrent fractures, Arthritis, Generalized osteosclerosis, Mandibular ost... |
ORPHA:53 |
Melorheostosis |
|
Arthritis, Increased bone mineral density, Joint stiffness, Failure to thrive, Hyperostosis, Ecto... |
ORPHA:2485 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Squalene Synthase Deficiency |
|
Knee flexion contracture, Decreased LDL cholesterol concentration, Bicuspid aortic valve, Elbow f... |
OMIM:618156 |
Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Failure to thrive, Hypoglycemia, Truncal obesity, ... |
ORPHA:181393 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Monosomy 13Q34 |
|
Common atrium, Insulin resistance, Hypercalcemia, Obesity, Pulmonic stenosis |
ORPHA:96168 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Steatorrhea, Failure to thrive, Hepatomegaly, Hypoalbuminemia |
OMIM:602579 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Increased bone mineral density, Joint stiffness, Oste... |
OMIM:136300 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Increased susceptibility to fractures, Hypophosphatemia, Osteopenia, Osteoporosis |
OMIM:612286 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic tetany, Hyperphosphatemia, Ectopic ossification, Calcinosis, Hyperostosis frontalis ... |
ORPHA:79443 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Mastocytosis |
|
Splenomegaly, Recurrent fractures, Mastocytosis, Hypercalcemia, Hepatomegaly, Acute leukemia, Ost... |
ORPHA:98292 |
Non-Functioning Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:94080 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta... |
OMIM:241600 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Hip contracture, Hypophosphatemia, Osteopenia, Hypercalcemia, Pathologi... |
OMIM:156400 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Throm... |
OMIM:611490 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Hypoalbuminemia, Ventricular septal defect, Hypercholesterolemia |
OMIM:616730 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Fa... |
OMIM:242150 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Maternal diabetes, Large f... |
ORPHA:276580 |
Addison Disease |
|
Generalized bone demineralization, Hyperuricemia, Weight loss, Normocytic anemia, Decreased circu... |
ORPHA:85138 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Lar... |
ORPHA:552 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyocyte morpholog... |
ORPHA:367 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Cardiomyopathy, Myocarditis, Abnormal macrophage morphology, Pericardial effu... |
ORPHA:292 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Weight loss, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia... |
ORPHA:95409 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Increased circulating cortisol level, Osteomalacia, Hypophosphatemia, Rickets, ... |
ORPHA:249 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones |
ORPHA:564003 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... |
ORPHA:247585 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Weight loss, Hypoalbuminemia |
ORPHA:2494 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Decreased circulating free... |
ORPHA:276575 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Arthritis, Joint stiffness, Knee osteoa... |
ORPHA:566943 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Failure to thrive, Hypo... |
OMIM:251880 |
Fanconi-Bickel Syndrome |
|
Osteomalacia, Glycosuria, Hypophosphatemia, Hypokalemia, Failure to thrive, Hypouricemia |
OMIM:227810 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia, Pathologi... |
OMIM:179800 |
Potocki-Lupski Syndrome |
|
Patent foramen ovale, Small for gestational age, Atrial septal defect, Failure to thrive, Hypocho... |
OMIM:610883 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Calvarial osteosclerosis, Cortical thickening of long bone diaphyses, Decrea... |
ORPHA:93324 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Hypophosphatem... |
OMIM:241530 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Osteomalacia |
OMIM:600740 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
Autosomal Dominant Hypocalcemia |
|
Hypocalcemia, Hypomagnesemia, Hyperphosphatemia, Reduced bone mineral density |
ORPHA:428 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia |
ORPHA:94059 |
Mirage Syndrome |
|
Leukopenia, Anemia, Radial club hand, Decreased body weight, Hyperkalemia, Lymphopenia, Hypoplast... |
OMIM:617053 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Hypophosphatemia, ... |
ORPHA:157215 |
Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipo... |
ORPHA:14 |
Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Small for gestational age, Diabetic ketoacidosis, Maternal ... |
ORPHA:99886 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Osteomalacia, Hypophosphatemia, Coarse metaphyseal trabecularization, Osteol... |
ORPHA:93160 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Patent foramen ovale, Increased circulating free fatty acid level, Vent... |
ORPHA:26793 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Fanconi Renotubular Syndrome 2 |
|
Recurrent fractures, Osteomalacia, Glycosuria, Hypophosphatemia, Rickets, Osteopenia |
OMIM:613388 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Failure to thrive, Hypochlore... |
OMIM:214700 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Small for gestational age, Epiphyseal stippling, Calvarial hyperostosis, Neona... |
OMIM:101800 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Malignant Hyperthermia Of Anesthesia |
|
Cardiomyocyte mitochondrial proliferation, Hyperphosphatemia, Hyperkalemia, Elevated creatine kin... |
ORPHA:423 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Neutropenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatomegaly... |
ORPHA:540 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Cardiomyopathy, Hyperhomocystinemia, Elevated circulating creatine kinase con... |
ORPHA:88618 |
Alg8-Cdg |
|
Anemia, Small for gestational age, Camptodactyly, Failure to thrive, Hyponatremia, Thrombocytopenia |
ORPHA:79325 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Osteomyelitis, Reduced proportion of CD4-negative, CD8-negative, alph... |
ORPHA:37042 |
Familial Glucocorticoid Deficiency |
|
Weight loss, Ketotic hypoglycemia, Decreased circulating cortisol level, Hyperkalemia, Failure to... |
ORPHA:361 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure... |
OMIM:264700 |
Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:682 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
Chylomicron Retention Disease |
|
Steatorrhea, Failure to thrive, Hypocholesterolemia, Hypertriglyceridemia, Acanthocytosis |
ORPHA:71 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Hypokalemia, Anemia, Hypoalbuminemia |
OMIM:174900 |
Alg12-Cdg |
|
Patent foramen ovale, Abnormal bone ossification, B lymphocytopenia, Camptodactyly, Failure to th... |
ORPHA:79324 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Glycosuria, Hypokalemia, Hypophosphatemia, Rickets |
OMIM:134600 |
Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Hypoglycemia, Hyponatremia |
OMIM:608688 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Abnormal erythrocyte enzyme level, Increased erythr... |
ORPHA:100924 |
Aicardi-Goutieres Syndrome 9 |
|
Anemia, Hemolytic anemia, Weight loss, Pericardial effusion, Left ventricular hypertrophy, Hepato... |
OMIM:619487 |
Whipple Disease |
|
Anemia, Arthritis, Cachexia, Insulin resistance, Pericarditis, Hepatomegaly, Hyponatremia, Myocar... |
ORPHA:3452 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Failure to thrive, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly |
OMIM:615085 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Arthritis, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Flexion contracture, Pericardial effusion, Steatorrhea, Pericarditis, Failure to ... |
OMIM:212065 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Anemia, Weight loss, Constrictive pericarditis, Leukocytosis, Hy... |
ORPHA:67 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Decreased body weight, Type I diabetes mellitus, Elevate... |
ORPHA:96180 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal mean corpuscular vol... |
ORPHA:86839 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbum... |
OMIM:618183 |
Cystinosis |
|
Hypophosphatemia, Hypokalemia, Type I diabetes mellitus, Rickets, Failure to thrive |
ORPHA:213 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Increased susceptibility to fractures, Osteomalacia, Hypophosphatemia, Sparse b... |
ORPHA:289157 |
Fanconi Renotubular Syndrome 5 |
|
Glycosuria, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Flexion contracture, Decreased body weight, Decreased plasma carnitine, Decreased serum i... |
ORPHA:89842 |
Al Amyloidosis |
|
Anemia, Howell-Jolly bodies, Weight loss, Increased circulating NT-proBNP concentration, Hypertro... |
ORPHA:85443 |
Hypophosphatemic Rickets |
|
Osteomalacia, Enthesitis, Hypophosphatemia, Rickets, Failure to thrive, Craniofacial osteoscleros... |
ORPHA:437 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Hepatomegaly, Increased body weight |
ORPHA:890 |
Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... |
ORPHA:31824 |
Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
Renal Hypoplasia, Bilateral |
|
Anemia, Small for gestational age, Glycosuria, Hyperkalemia, Failure to thrive, Hyponatremia |
ORPHA:97362 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Flexion contracture, Enlarged kidney, Atrial septal defect, Hypertrophic card... |
OMIM:617303 |
Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Anemia, Hyponatremia |
ORPHA:79273 |
Majeed Syndrome |
|
Increased susceptibility to fractures, Flexion contracture, Osteomyelitis, Weight loss, Increased... |
ORPHA:77297 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Calvarial osteosclerosis, Decreased skull ossification, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Neonatal hypoglycemia, Elevated circulating creatine kinase concentrat... |
OMIM:619055 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Increased bone mineral density, Hyperbilirubinemia, Pancytopenia, Decreased osteoclast co... |
OMIM:259720 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Insulin resistance, Obesity, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
X-Linked Agammaglobulinemia |
|
Anemia, Osteomyelitis, Weight loss, Arthritis, Failure to thrive, Thrombocytopenia, Hypocalcemia,... |
ORPHA:47 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Rickets, Failure... |
OMIM:277440 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Restrictive cardiomyopathy, Atrial septal defect, Joint hypermobility, Hype... |
ORPHA:369837 |
Bacterial Toxic-Shock Syndrome |
|
Septic arthritis, Osteomyelitis, Arthritis, Increased circulating metamyelocyte count, Elevated c... |
ORPHA:36234 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Failure to thrive, Postprandial hyperglycemia, Hyperlipidemia |
ORPHA:2089 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoalbuminemia |
OMIM:618329 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Large for gestational age, Abnormal circu... |
ORPHA:263455 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Thin bony cortex, Anemia, Small for gestational age, Unconjugated hyperbilirubinemia, Joint laxit... |
OMIM:613658 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive |
OMIM:601410 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Elevated circulating creatine kinase concentration,... |
OMIM:618838 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri... |
OMIM:300554 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Splenomegaly, Abnormality of iron homeostasis, Weight loss, Stiff interphalangeal joints, Arthrit... |
ORPHA:465508 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased serum prostaglandin E2, Hyperaldosteronism, Small for gestational age, Hypokalemia, Inc... |
OMIM:601678 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:255249 |
Wilson Disease |
|
Splenomegaly, Anemia, Hemolytic anemia, Osteomalacia, Glycosuria, Decreased circulating cerulopla... |
OMIM:277900 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatomegaly |
OMIM:608600 |
Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Decreased circulating cortisol level, Hyponatremia |
OMIM:300200 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles... |
OMIM:618620 |
Shigellosis |
|
Arthritis, Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Hypoglycemia, Leu... |
ORPHA:810 |
Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
Avian Influenza |
|
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:454836 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Osteomalacia, Hypophosphatemia, Rickets, Hypophosphat... |
OMIM:307800 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis |
OMIM:122860 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... |
OMIM:231095 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance... |
OMIM:604367 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Somatostatinoma |
|
Increased circulating cortisol level, Weight loss, Steatorrhea, Hypochromic microcytic anemia, Di... |
ORPHA:97283 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypocalcemic seizures, Renal hypophosphatemia |
ORPHA:405 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia, Class III obesity |
OMIM:616418 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hyperostosis frontalis interna, Diabetes mellitus, Hypercholesterolemia, Obesity, ... |
ORPHA:77296 |
Vipoma |
|
Weight loss, Increased circulating cortisol level, Hypokalemia, Diabetes mellitus, Hypercalcemia,... |
ORPHA:97282 |
Familial Hypoaldosteronism |
|
Failure to thrive, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hepatomegaly, Hypoalbuminemia |
OMIM:613070 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Hyperkalemia, Failure to thrive, Hypoglycemia, Hyponatremia |
ORPHA:90790 |
Acrodysostosis With Multiple Hormone Resistance |
|
Diabetes mellitus, Hypocalcemia, Obesity, Hyperphosphatemia |
ORPHA:280651 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Failure to thrive, Complete atrioventricular canal defect, Hypercalcemia |
ORPHA:476126 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Failure to thrive, Hypochloremia, Hyponatremia |
OMIM:613090 |
Temple Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Small for gestational age, Joint... |
OMIM:616222 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Glucagonoma |
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Weight loss, Increased circulating cortisol level, Steatorrhea, Normochromic anemia, Diabetes mel... |
ORPHA:97280 |
Dehydrated Hereditary Stomatocytosis |
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Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Hemorrhagic Fever-Renal Syndrome |
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Hyperphosphatemia, Anemia, Decreased body weight, Hyperkalemia, Leukocytosis, Elevated circulatin... |
ORPHA:340 |
Trichohepatoenteric Syndrome 1 |
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Hypermethioninemia, Splenomegaly, Abnormality of iron homeostasis, Ventricular septal defect, Sma... |
OMIM:222470 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Increased circulating cortisol level, Hyperglycemia, Abdominal obesity, Osteoporosis, Increased b... |
OMIM:615954 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
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Anemia, Hypokalemia, Cachexia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Gaucher Disease Type 1 |
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Leukopenia, Anemia, Pericardial effusion, Increased bone mineral density, Hypersplenism, Pancytop... |
ORPHA:77259 |
Dent Disease 1 |
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Thin bony cortex, Recurrent fractures, Osteomalacia, Glycosuria, Hypophosphatemia, Sparse bone tr... |
OMIM:300009 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young, Joint hypermobility |
ORPHA:254531 |
Hyperostosis Frontalis Interna |
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Hyperostosis frontalis interna, Obesity, Diabetes mellitus |
OMIM:144800 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Hypercalcemia, Weight loss |
ORPHA:276621 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Hypermethioninemia, Hyperbilirubinemia, Failure to thrive, Hypertyrosinemia, Hypoglycemia, Conjug... |
OMIM:617156 |
Celiac Disease, Susceptibility To, 1 |
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Weight loss, Type I diabetes mellitus, Steatorrhea, Rickets, Failure to thrive, Thrombocytosis, M... |
OMIM:212750 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level, Neonatal h... |
ORPHA:90791 |
Osteopetrosis, Autosomal Recessive 2 |
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Anemia, Osteomyelitis, Recurrent fractures, Pancytopenia, Decreased osteoclast count, Hepatosplen... |
OMIM:259710 |
Cholera |
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Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
Hartsfield Syndrome |
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Hypernatremia, Craniosynostosis |
OMIM:615465 |
Lipodystrophy, Familial Partial, Type 6 |
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Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... |
OMIM:615980 |
Glycogen Storage Disease 0, Liver |
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Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Exercise-Induced Malignant Hyperthermia |
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Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
Lysosomal Acid Lipase Deficiency |
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Anemia, Weight loss, Hypersplenism, Cachexia, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Fail... |
ORPHA:275761 |
Juvenile Nephropathic Cystinosis |
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Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Failure to thrive, Hyponatremia, ... |
ORPHA:411634 |
Ring Chromosome 10 Syndrome |
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Hypocalcemia, Cachexia |
ORPHA:1438 |
Gracile Bone Dysplasia |
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Asplenia, Hypocalcemia, Failure to thrive, Decreased skull ossification, Hypoplastic spleen |
OMIM:602361 |
Legionnaires Disease |
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Endocarditis, Lymphopenia, Pericarditis, Hyponatremia, Myocarditis, Splenomegaly |
ORPHA:549 |
Tangier Disease |
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Anemia, Coronary artery stenosis, Left ventricular hypertrophy, Hepatosplenomegaly, Hypocholester... |
ORPHA:31150 |
Melorheostosis, Isolated |
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Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Essential Fructosuria |
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Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
Genetic Steroid-Resistant Nephrotic Syndrome |
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Hypoalbuminemia |
ORPHA:656 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Increased C-peptide level, Increased circulating cortisol level, Decreased circulating free fatty... |
ORPHA:79644 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Decreased circulating cortisol level, Hyperkalemia, Autoimmune thrombocytopenia, Failure to thriv... |
ORPHA:293978 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Hyperalaninemia, Small for gestational age, Pericardial effusion, Failure to thrive, Hypertrophic... |
OMIM:614702 |
Multiple Endocrine Neoplasia, Type I |
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Hypoglycemia, Hypercalcemia, Increased circulating cortisol level |
OMIM:131100 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:618810 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Calcinosis, Hypokalemia, Osteopenia, Hyponatremia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
Hemochromatosis, Type 1 |
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Increased serum iron, Glucose intolerance, Osteoporosis, Diabetes mellitus, Increased circulating... |
OMIM:235200 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
Primary Fanconi Renotubular Syndrome |
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Increased susceptibility to fractures, Weight loss, Osteomalacia, Glycosuria, Decreased plasma ca... |
ORPHA:3337 |
Oncogenic Osteomalacia |
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Increased susceptibility to fractures, Hypophosphatemia, Hypocalcemia, Pathologic fracture, Fibro... |
ORPHA:352540 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hypoketotic hypoglycemia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... |
OMIM:600649 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Leukopenia, Anemia, Flexion contracture, Patent foramen ovale, Enlarged kidney, Atrial septal def... |
ORPHA:505248 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Anemia, Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating creatine kinase c... |
OMIM:619743 |
Chédiak-Higashi Syndrome |
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Splenomegaly, Anemia, Neutropenia, Pericardial effusion, Pancytopenia, Hepatosplenomegaly, Increa... |
ORPHA:167 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:168558 |
Osteopetrosis, Autosomal Dominant 1 |
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Thickened cortex of long bones, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis |
OMIM:607634 |
Carnitine Deficiency, Systemic Primary |
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Cardiomyopathy, Impaired gluconeogenesis, Decreased plasma carnitine, Elevated circulating creati... |
OMIM:212140 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:289548 |
Autosomal Recessive Hypophosphatemic Rickets |
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Renal hypophosphatemia, Hypocalcemic tetany, Osteomalacia, Abnormal trabecular bone morphology, I... |
ORPHA:289176 |
Summitt Syndrome |
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Obesity, Craniosynostosis |
OMIM:272350 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Unconjugated hyperbilirubinemia, Hypokalemia, Microangiopathic hemolytic anemia, Reticulocytosis,... |
ORPHA:90038 |
Secondary Intestinal Lymphangiectasia |
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Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... |
ORPHA:90363 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Splenomegaly, Anemia, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, R... |
ORPHA:79240 |
Osteosclerosis With Ichthyosis And Fractures |
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Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures |
OMIM:166740 |
Parathyroid Carcinoma |
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Hypophosphatemia, Hypercalcemia, Osteoporosis, Weight loss |
ORPHA:143 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hypercholesterolemia, Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (... |
OMIM:248370 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Cardiomyopathy, Splenomegaly, Anemia, Abnormal erythrocyte enzyme level, Elevated circulating cre... |
ORPHA:264580 |
Hypokalemic Periodic Paralysis |
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Episodic hypokalemia, Postprandial hyperglycemia, Mildly elevated creatine kinase |
ORPHA:681 |
Double Outlet Right Ventricle |
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Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Hypoplastic left he... |
ORPHA:3426 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Mandibular osteomyelitis, Os... |
OMIM:166600 |
Sitosterolemia 1 |
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Reduced haptoglobin level, Stomatocytosis, Anemia, Arthritis, Giant platelets, Reticulocytosis, E... |
OMIM:210250 |
Ppoma |
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Increased circulating cortisol level, Hypercalcemia, Weight loss, Hepatomegaly |
ORPHA:97278 |
Sheehan Syndrome |
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Decreased circulating cortisol level, Hypoglycemia, Hyponatremia, Obesity, Normochromic anemia |
ORPHA:91355 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hyperinsulinemia, Small for gestational age, Diabetic ketoacidosis, Hypoglycemia, Postprandial hy... |
OMIM:262190 |
Cystinosis, Nephropathic |
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Reduced blood urea nitrogen, Weight loss, Glycosuria, Decreased plasma carnitine, Hypophosphatemi... |
OMIM:219800 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Ventricular septal defect, Joint contracture of the hand, Coronal craniosynostosis, Pericardial e... |
OMIM:235510 |
Cole Disease |
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Abnormal blood phosphate concentration, Hyperglycemia |
OMIM:615522 |
Hereditary Pheochromocytoma-Paraganglioma |
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Hypercalcemia, Weight loss |
ORPHA:29072 |
Buschke-Ollendorff Syndrome |
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Flexion contracture, Recurrent fractures, Arthritis, Osteopoikilosis, Generalized osteosclerosis,... |
ORPHA:1306 |
Pituitary Apoplexy |
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Increased circulating cortisol level, Hypoglycemia, Normochromic anemia, Hyponatremia |
ORPHA:95613 |
Cortisone Reductase Deficiency 2 |
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Obesity, Insulin resistance |
OMIM:614662 |
Infantile Nephropathic Cystinosis |
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Glycosuria, Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Rickets, Failure to ... |
ORPHA:411629 |
Osteogenesis Imperfecta, Type Xiii |
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Decreased body weight, Recurrent fractures, Increased bone mineral density, Joint hypermobility, ... |
OMIM:614856 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Increased skull ossification, Diaphyseal sclerosis, Craniofacial osteosclerosis, Hypocalcemia, Os... |
OMIM:618476 |
Juvenile Polyposis Of Infancy |
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Anemia, Cachexia, Atrial septal defect, Abnormal heart morphology, Refractory anemia, Hypoalbumin... |
ORPHA:79076 |