| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... |
OMIM:610600 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Polydipsia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Polydipsia |
OMIM:304800 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia |
ORPHA:529799 |
| Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, Hyperglutamine... |
OMIM:615751 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased circulating free fatty acid level |
ORPHA:293964 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... |
ORPHA:556037 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hyperkalemia, Agitation, Elevated circulating creatine kinase c... |
ORPHA:94093 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Polydipsia |
ORPHA:223 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c |
OMIM:610582 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia |
ORPHA:941 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... |
ORPHA:556030 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperactivity |
OMIM:238700 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Central Diabetes Insipidus |
|
Polydipsia, Hyponatremia |
ORPHA:178029 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Elevated hemoglobin A1c, Type I diabetes mellitus |
OMIM:606176 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... |
ORPHA:3008 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased C-peptide level, Increased circulating free fatty acid level, Decreased plasma carnitin... |
ORPHA:71212 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:199296 |
| Glycine Encephalopathy |
|
Restlessness, Impulsivity, Hyperactivity, Hyperglycinemia |
OMIM:605899 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating creatine kinase concentration, ... |
ORPHA:26793 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Agitation, Increased erythrocyte protoporphyrin con... |
ORPHA:100924 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... |
OMIM:267700 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Increased circulating renin ... |
ORPHA:171876 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
| Herpes Simplex Virus Encephalitis |
|
Alcoholism, Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Hyperprolinemia |
OMIM:239500 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Hyponatremia |
ORPHA:449285 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo... |
ORPHA:232 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level |
OMIM:610768 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia, Hyponatremia |
OMIM:613845 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79273 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... |
OMIM:603553 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Infant Botulism |
|
Dysphagia, Hyponatremia |
ORPHA:178478 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hyponatremia |
OMIM:300200 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia |
OMIM:608688 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Hartsfield Syndrome |
|
Hypernatremia |
OMIM:615465 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemia, Hyponatremia |
ORPHA:1667 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia |
OMIM:619381 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:848 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypokalemia, Hypomagnesemia, Hyperactivity |
OMIM:618314 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... |
ORPHA:95409 |
| Alg8-Cdg |
|
Hyponatremia |
ORPHA:79325 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Cholera |
|
Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hyponatremia |
ORPHA:173 |
| Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulating creatinine... |
ORPHA:411634 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:90791 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Whipple Disease |
|
Polydipsia, Hyponatremia |
ORPHA:3452 |
| Late-Onset Isolated Acth Deficiency |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Hypercalcemia, Hyponatremia |
ORPHA:199299 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia, Polydipsia |
OMIM:602522 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Dysphagia, Hyponatremia, Hypocalcemia |
OMIM:617913 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Polydipsia, Hyponatremia |
ORPHA:95513 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity |
OMIM:612716 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:361 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Tethered cord, Impulsivity, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:620141 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H... |
ORPHA:552 |
| Necrotizing Enterocolitis |
|
Hyponatremia |
ORPHA:391673 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Legionnaires Disease |
|
Hyponatremia |
ORPHA:549 |
| Addison Disease |
|
Hyperuricemia, Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin le... |
ORPHA:85138 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Hyponatremia |
ORPHA:79473 |
| Japanese Encephalitis |
|
Paucity of anterior horn motor neurons, Hyperintensity of MRI T2 signal of the spinal cord, Hypon... |
ORPHA:79139 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Hyponatremia |
ORPHA:95512 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F... |
ORPHA:231222 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypoproteinemia, Atrophy of the spinal cord, Hypona... |
ORPHA:167 |
| Acute Intermittent Porphyria |
|
Pseudobulbar paralysis, Restlessness, Hyponatremia |
ORPHA:79276 |
| Citrullinemia Type Ii |
|
Hyperactivity, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hy... |
ORPHA:247585 |
| Alg12-Cdg |
|
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
| Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... |
ORPHA:89938 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosp... |
OMIM:219800 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Pituitary Apoplexy |
|
Increased circulating cortisol level, Hyponatremia |
ORPHA:95613 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:289548 |
| Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Steatorrhea, Xanthelasma, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia |
ORPHA:275761 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hyperactivity, Abnormal spinal cord morphology, Decreased circulating cortisol level, Abnormal ci... |
ORPHA:139396 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypokalemia, Hypo... |
ORPHA:90038 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:293978 |
| Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypercalcemia, Hyponatremia, Hypoalbuminemia |
ORPHA:88673 |
| Shigellosis |
|
Abnormal blood ion concentration, Hyponatremia |
ORPHA:810 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Hyponatremia |
ORPHA:91355 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Holoprosencephaly |
|
Spinal dysraphism, Spinal cord tumor, Hyponatremia |
ORPHA:2162 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... |
ORPHA:231226 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Spinal arachnoid cyst |
ORPHA:85327 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Familial Dysautonomia |
|
Hyponatremia |
ORPHA:1764 |
| Beta-Thalassemia Major |
|
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Abnormal spinal cord morphology |
ORPHA:99947 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Attention deficit hyperactivity ... |
ORPHA:534 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperkalemia, Polyphagia, Hyperlipidemia, Hyponatremia, Polydipsia |
ORPHA:293987 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Spinal Arteriovenous Metameric Syndrome |
|
Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyperkalemia, Hyponatremia |
ORPHA:544482 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Hyperinsulinemia, Fasting hypoglycemia, Diabetic ketoacidosis, Type II diabetes melli... |
ORPHA:2298 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Increased serum bile acid concentration, Polydipsia, Hyponatremia |
ORPHA:731 |
| Solitary Bone Cyst |
|
Abnormal spinal cord morphology |
ORPHA:83468 |
| Liver Disease, Severe Congenital |
|
Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, Elevated circulating al... |
OMIM:619991 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypochloremia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:90794 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Hyperthyroidism, Nonautoimmune |
|
Increased circulating thyroglobulin level, Hyperactivity |
OMIM:609152 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Adrenomyeloneuropathy |
|
Atrophy of the spinal cord, Abnormal spinal cord morphology, Dorsal column degeneration, Abnormal... |
ORPHA:139399 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating renin level, Decreased circulating cortisol level, Hyperkalemia, Hyponatrem... |
OMIM:201750 |
| Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia |
ORPHA:330015 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:88628 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology, Restlessness |
ORPHA:68 |
| Superficial Siderosis |
|
Abnormal spinal cord morphology, Atrophy of the spinal cord |
ORPHA:247245 |
| Mosaic Trisomy 20 |
|
Abnormal spinal cord morphology |
ORPHA:1724 |
| Limb Body Wall Complex |
|
Spina bifida occulta, Abnormal spinal cord morphology, Spina bifida |
ORPHA:2369 |
| Tetrasomy 9P |
|
Abnormal spinal cord morphology, Hyperactivity |
ORPHA:3310 |
| Primary Sjögren Syndrome |
|
Abnormal spinal cord morphology |
ORPHA:289390 |
