Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hypokalemia, Hyperaldosteronism |
OMIM:605635 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost... |
OMIM:264350 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Decreased circulati... |
OMIM:610600 |
Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldo... |
ORPHA:404 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insens... |
ORPHA:251274 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... |
OMIM:614736 |
Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Constipation, Nephropathy, Arr... |
ORPHA:526 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556037 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
Liddle Syndrome 1 |
|
Hypokalemic alkalosis, Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldo... |
OMIM:177200 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr... |
OMIM:203400 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
Liddle Syndrome 2 |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:618114 |
Liddle Syndrome 3 |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:618126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Abnormal long bone morphology, Short toe, Short finger, Abnormal pelvic girdle bone morphology |
OMIM:259270 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-insensitive primary h... |
ORPHA:231625 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Increased circulating reni... |
ORPHA:556030 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Metabolic alkalosis, Nephrolithiasis, Biventricular hypertrophy, Hyper... |
OMIM:615474 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-... |
ORPHA:231580 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231632 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Metabolic alk... |
ORPHA:369929 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemic alkalosis, Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Incre... |
OMIM:241150 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Metabolic alkalosis, Elevated serum bicarbonate concentration, Secretory diarrhea, ... |
OMIM:214700 |
Apparent Mineralocorticoid Excess |
|
Metabolic alkalosis, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... |
OMIM:218030 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormality of acid-base homeostasis, Myocarditis, Diarrhea, C... |
ORPHA:31824 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... |
OMIM:613677 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Apparent Mineralocorticoid Excess |
|
Hypokalemic metabolic alkalosis, Renal insufficiency, Abnormal urine sodium concentration, Nephro... |
ORPHA:320 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Abnormality of the urinary system, Hyperaldosteronis... |
OMIM:103900 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Diarrhea,... |
ORPHA:427 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Hypo... |
OMIM:300539 |
Central Diabetes Insipidus |
|
Hyponatremia, Weight loss, Failure to thrive, Diabetes insipidus, Nocturia |
ORPHA:178029 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Coxopodopatellar Syndrome |
|
Abnormal epiphysis morphology, Abnormal pelvic girdle bone morphology, Hip dysplasia, Aplasia/Hyp... |
ORPHA:1509 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tu... |
OMIM:604278 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
Glucocorticoid Resistance, Generalized |
|
Metabolic alkalosis, Increased circulating ACTH level, Hypertension, Increased circulating cortis... |
OMIM:615962 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... |
ORPHA:199296 |
Pseudohypoaldosteronism, Type Iia |
|
Hyperchloremic acidosis, Hypertension, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:145260 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Vomiting, Distal renal tubular... |
OMIM:602722 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... |
OMIM:601678 |
Chromosome 17Q23.1-Q23.2 Duplication Syndrome |
|
Hip dysplasia, Acetabular dysplasia, Genu valgum, Coxa valga |
OMIM:613618 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... |
ORPHA:101016 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... |
ORPHA:361 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Hypertension, Myocardial infarction |
OMIM:608320 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemic alkalosis, Adrenal hyperplasia, Hypertension, Adrenogenital syndrome |
OMIM:202110 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased... |
OMIM:612780 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hepatosplenomegaly, Metabolic acidosis, Nephrocalcinosis, Hypokalemia, Distal renal ... |
OMIM:611590 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Low plasma citrulline, Lactic acidosis, Elevated urine acetoacetic acid le... |
OMIM:615751 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... |
ORPHA:90791 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Hypokalemia, Palpitations, Goiter |
OMIM:188580 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentra... |
OMIM:613095 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Hereditary Coproporphyria |
|
Dark urine, Hyponatremia, Abnormal circulating porphyrin concentration, Porphyrinuria, Increased ... |
ORPHA:79273 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Renal insufficiency, Proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Hyperten... |
OMIM:137950 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Avascular necrosis of the capital femoral epiphysis, Hip dysplasi... |
OMIM:142669 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Projectile vomiting, Hypochloremic metabolic alkalosis |
OMIM:179010 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Increased circulating ACTH level, Alkalosis, Nephrolithiasis, Hypertension, Hy... |
OMIM:219090 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Myocardial infarction, Renal salt wasti... |
ORPHA:95409 |
Polycystic Kidney Disease 7 |
|
Hypertension, Renal insufficiency, Multiple renal cysts, Stage 5 chronic kidney disease |
OMIM:620056 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
Distal Arthrogryposis Type 1 |
|
Camptodactyly of finger, Rocker bottom foot, Ulnar deviation of finger, Abnormal hip bone morphol... |
ORPHA:1146 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Nephrogenic diabetes insipidus, Functional abnormality of the b... |
ORPHA:223 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
Microvillus Inclusion Disease |
|
Diarrhea, Hypovolemia, Metabolic acidosis, Nephrocalcinosis, Abnormal renal physiology |
ORPHA:2290 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Elevated... |
OMIM:602088 |
Hyperaldosteronism, Familial, Type Iv |
|
Hyperaldosteronism |
OMIM:617027 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... |
ORPHA:90795 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Increased circulating dehydr... |
OMIM:201810 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Diarrhea, Abnormal blood ion concentra... |
ORPHA:173 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Renal magnesium wasting, Hypomagnesemia, ... |
OMIM:263800 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Adenohypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... |
ORPHA:95512 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Death in infancy, Death in early adulthood, Elevated circulating creatine kinase co... |
ORPHA:682 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosph... |
ORPHA:213 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury, Episodic vomiting, Nausea |
ORPHA:330021 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Mixed respiratory and metabolic ... |
OMIM:145600 |
Panhypophysitis |
|
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... |
ORPHA:95513 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... |
ORPHA:90793 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Metabolic alkalosis, Precocious puberty, I... |
ORPHA:786 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Lactic acidosis, Abn... |
OMIM:540000 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Hypoparathyroidism, Decreased circulating cortisol level, Hypercalcemia, Pituitary ... |
ORPHA:199299 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... |
ORPHA:168558 |
Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated ... |
ORPHA:681 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp... |
ORPHA:90794 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hyperkalemia, Increased ... |
ORPHA:90790 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Vomi... |
OMIM:237300 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar... |
ORPHA:85138 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Splenomegaly, Diarrhea, Hypertension, Increased urinary porphobilinoge... |
OMIM:121300 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Abnormal tibia morphology, Abnormal femur morphology, Abnormal pelvic g... |
ORPHA:1802 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Constipation, Type II d... |
ORPHA:225 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Chronic kidney d... |
ORPHA:1667 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypernatremia, Failure to thrive |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Hypernatremia, Failure to thrive, Diabetes insipidus |
OMIM:304800 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Multiple... |
ORPHA:79644 |
Citrullinemia Type I |
|
Respiratory alkalosis, Hyperammonemia, Gastroesophageal reflux, Vomiting, Elevated plasma citrulline |
ORPHA:247525 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Hypertension, Trimethylaminuria |
OMIM:602079 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... |
OMIM:603965 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension, Nephropathy, Proteinuria |
ORPHA:2820 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita... |
OMIM:202010 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Patent urachus, Death in childhood, Failure to thrive |
OMIM:618252 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased urinary porphobilinogen, In... |
ORPHA:100924 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Diabetic... |
OMIM:615238 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Increased serum lactate, Congestive heart failure, Lactic acidosis, Metabolic acido... |
OMIM:614096 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Death in infancy, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stim... |
OMIM:618183 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrom... |
OMIM:601894 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Diarrhea, Bicarbonate-wasting renal tubular acidosis, Hypovolemia, Bicarbonatu... |
ORPHA:47159 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Renal salt wasting, Diarrhea, Primary ... |
ORPHA:275761 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hy... |
ORPHA:90041 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Diarrhea, Xerostomia, Hematochezia, Hypokalemia, Vomiting, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... |
OMIM:617053 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Scorpion Envenomation |
|
Bundle branch block, Respiratory alkalosis, Increased circulating NT-proBNP concentration, Vomiti... |
ORPHA:466677 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Hypokal... |
OMIM:617913 |
Nail-Patella-Like Renal Disease |
|
Hypertension, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:603233 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis |
OMIM:607832 |
Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... |
ORPHA:79473 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia |
OMIM:608688 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Chronic acidosis, Hypercal... |
OMIM:227810 |
Snakebite Envenomation |
|
Hyponatremia, Hypopituitarism, Acute kidney injury |
ORPHA:449285 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... |
ORPHA:97289 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Renal tub... |
ORPHA:411629 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Failure to thrive |
OMIM:620157 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer... |
OMIM:603278 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Hyperlipidemia, Diarrhea, Permanent atrial fibrillati... |
ORPHA:31825 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis |
OMIM:613944 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... |
OMIM:620366 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension, Hyperkalemia |
ORPHA:757 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Citrullinemia, Classic |
|
Hepatomegaly, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxica... |
OMIM:215700 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Pearson Syndrome |
|
Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Renal cys... |
ORPHA:699 |
Ovarian Hyperstimulation Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Hypovolemia, Capillary lea... |
ORPHA:64739 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hematuria, Hypertension, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616818 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Metabolic alkalosis, Focal segmental glomerulosclerosis, Increased serum lactate, Elevated circul... |
OMIM:616239 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia |
OMIM:618681 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Hype... |
ORPHA:79276 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia |
ORPHA:57 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Myocardial infarction, Diarrhea, Peritonitis, Elevated circulating creatini... |
ORPHA:90038 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
Alg8-Cdg |
|
Hyponatremia, Failure to thrive, Small for gestational age |
ORPHA:79325 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercalciuria, Decreas... |
ORPHA:18 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Diarrhea, Atrioventricular block, Cardiomyopathy, Constipation, Nephropathy, Arrhyt... |
ORPHA:85447 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin... |
ORPHA:769 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Glycosuria, Aminoaciduria, Hypophospha... |
OMIM:618913 |
Preeclampsia |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Elevated dias... |
ORPHA:275555 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Fibronectin Glomerulopathy |
|
Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic syndrome, Hypoalbu... |
ORPHA:84090 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Hematuria, Pancreatitis |
ORPHA:549 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Vomiting, Male hypogonadism, Hype... |
ORPHA:91347 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Helix Syndrome |
|
Hyperparathyroidism, Renal insufficiency, Polyuria, Hypermagnesemia, Xerostomia, Nephrolithiasis,... |
OMIM:617671 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Bloody diarrhea, Lactic acidosis, Vomiting, H... |
ORPHA:99826 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... |
ORPHA:439232 |
Immunoneurologic Disorder, X-Linked |
|
Neonatal death, Functional abnormality of the bladder, Small for gestational age |
OMIM:300076 |
Leprechaunism |
|
Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... |
ORPHA:508 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... |
ORPHA:2370 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Increased serum ... |
OMIM:619051 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... |
ORPHA:280356 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension |
ORPHA:79084 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Respiratory alkalosis, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxica... |
OMIM:207900 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Lactic acidosis, Perimembranous ventricular septal defect, Atrial sept... |
OMIM:620135 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Cardiomyopathy, Hypertension, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
Vipoma |
|
Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormon... |
ORPHA:97282 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis |
OMIM:161950 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Elevated circu... |
OMIM:619573 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Respiratory alkalosis, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma c... |
OMIM:311250 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Increased serum lactate, Hyperammonemia, Lactic acidosis, Met... |
OMIM:614702 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Glutaric aciduria, Diarrhea, Hypertension, Vomiting, Goiter |
OMIM:231690 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Increased serum lactate, Conjugated hyperbilirubinemia, Hyperkalemia, Metabolic aci... |
OMIM:618528 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Renal insufficiency, C... |
ORPHA:31826 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age |
ORPHA:391673 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism |
ORPHA:88643 |
Infant Botulism |
|
Hyponatremia, Xerostomia |
ORPHA:178478 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... |
ORPHA:36382 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity |
OMIM:620155 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Death in infancy, Hypokalemia, Death in childhood, Failure to thrive |
OMIM:618426 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... |
ORPHA:90065 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Increased serum lactate, Congestive heart failure, Dilated cardiomyopat... |
ORPHA:1349 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Acute kidney injury, Diarrhea, Alkalosis, Hyperammonemia, Int... |
ORPHA:90062 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Sinus tachycardia, Hypercalcemia, Cerebral hemorrhage, Elevated u... |
ORPHA:94080 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... |
ORPHA:2639 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Whipple Disease |
|
Hyponatremia, Hypothyroidism, Cachexia |
ORPHA:3452 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney, Hyperhidrosis, Hypo... |
ORPHA:1764 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Myoglobinuria, Cardiomyocyte mitochondrial proliferation, V... |
ORPHA:423 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Hypertension, Elevated circulating creatinine concentration, Abnorm... |
OMIM:616733 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Cardiomegaly, Increased serum lactate, Hyperprolinemia, Pulmonary ... |
OMIM:619064 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Increased serum lactate, Lactic acidosis, Metabolic ... |
OMIM:617021 |
Ochoa Syndrome |
|
Renal insufficiency, Urinary incontinence, Bowel incontinence, Urethral obstruction, Hypertension... |
ORPHA:2704 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Proteinuria, Hypertension, Nephrotic syndrome, Type I diabetes ... |
ORPHA:1192 |
Fabry Disease |
|
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... |
OMIM:301500 |
Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Urethritis, Abnormal blood... |
ORPHA:810 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P... |
OMIM:170390 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Elevated circulating... |
ORPHA:567544 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hypertension |
OMIM:608600 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Blue Diaper Syndrome |
|
Hypercalcemia, Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Metaboli... |
ORPHA:94086 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Hyperaldosteronism, Renal hypoplasia |
ORPHA:37553 |
Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Alg12-Cdg |
|
Hyponatremia, Decreased serum insulin-like growth factor 1, Hypospadias, Hypoalbuminemia, Hypocho... |
ORPHA:79324 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... |
ORPHA:57777 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Increased serum lactate, Hyperprolinemia, Perimembranous ventricular septal defect,... |
OMIM:619170 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Hypernatremia, Hypoalbuminemia, Reduced circulating growth hormone concentration |
OMIM:615508 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Secretory diarrhea, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bil... |
OMIM:619377 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
OMIM:613877 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Tako-Tsubo Cardiomyopathy |
|
Vomiting, Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricula... |
ORPHA:66529 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Diabetes mellitus, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia, Acut... |
ORPHA:544482 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Familial Pseudohyperkalemia |
|
Hypertension, Hyperkalemia |
ORPHA:90044 |
Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Short toe, Abnormal femur morphology, Abnormal pelvic gi... |
ORPHA:429 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... |
ORPHA:3287 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia |
OMIM:615750 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Lactic acidosis, Decreased circulating cortisol level, Elevated circulating creatine kinase conce... |
OMIM:618838 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Hypovolemia, Abnormal heart morphology, ... |
ORPHA:99885 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... |
OMIM:173900 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertensi... |
OMIM:615980 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension |
OMIM:201910 |
Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology |
ORPHA:1508 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Short thumb, Hip disloca... |
ORPHA:968 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Increased serum lactate, Ketoacidosis, Diarrhea, Hyperammonemia, Metabol... |
ORPHA:134 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Death in infancy, Elevated circulating creatine kinase concentration, Hyperammonemi... |
OMIM:610505 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Respiratory alkalosis, Hyperammonemia, Hyperornithinemia, Oroticaciduria, Episodic ... |
ORPHA:415 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Hyperlipidemia, Nephrolithiasis,... |
OMIM:232200 |
Léri-Weill Dyschondrosteosis |
|
Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tibial bowing, ... |
ORPHA:240 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hyperlipidemia, Lactic acidosi... |
OMIM:232240 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology |
ORPHA:1506 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Chronic kidney disease, Elevated circulati... |
ORPHA:329918 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Lacticaciduria,... |
ORPHA:3008 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Gastroesophageal reflux, V... |
ORPHA:85450 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge... |
OMIM:235200 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Ventricular tachy... |
OMIM:601005 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Nephropathy |
ORPHA:820 |
Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Failure to thrive in infancy, ... |
ORPHA:2162 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase concentration, Cardiomegaly, I... |
OMIM:617713 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... |
OMIM:604367 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Secretory diarrhea, Vomiting |
OMIM:616069 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal end... |
OMIM:144750 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I... |
ORPHA:136 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Hyp... |
OMIM:618886 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diff... |
OMIM:614034 |
Rhabdoid Tumor |
|
Hematuria, Hypertension, Hypercalcemia, Internal hemorrhage |
ORPHA:69077 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Sinus tachycardia, Hypercalcemia, ... |
ORPHA:276621 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Jeune Syndrome |
|
Toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped epiphysis, Ab... |
ORPHA:474 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
OMIM:201750 |
Frasier Syndrome |
|
Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, Increased circula... |
ORPHA:347 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Hypokalemic metabolic alkalosis, Renal insufficiency, Dysuria, Myoca... |
ORPHA:36426 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, Splenomegaly, Hyperlipidemia, Ne... |
OMIM:232220 |
Denys-Drash Syndrome |
|
Hypertension, Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:220 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Camptodactyly of finger, Brachydactyly, Ulnar deviation o... |
ORPHA:2928 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Hypercalcemia, Pituitary null cell adenoma... |
ORPHA:913 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... |
OMIM:605373 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr... |
ORPHA:90363 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Chronic kidney disease, Nephrolit... |
ORPHA:976 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... |
ORPHA:77296 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... |
ORPHA:251992 |
Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Cerebral hemorrhage, Hypertension, Myocardial infarction |
OMIM:133100 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
ORPHA:280679 |
Nephronophthisis 18 |
|
Hypertension, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:615862 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure... |
OMIM:269920 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Stiff Skin Syndrome |
|
Nephrolithiasis, Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus |
ORPHA:2833 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... |
OMIM:168000 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Porphyria, Acute Intermittent |
|
Tachycardia, Urinary incontinence, Dysuria, Diarrhea, Paralytic ileus, Hypertension, Constipation... |
OMIM:176000 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Hypertension, Atrial septal defect, Micropenis |
OMIM:613870 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin... |
OMIM:201475 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension |
ORPHA:363400 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... |
ORPHA:767 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Dietary Iron Overload Disease |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:139507 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Japanese Encephalitis |
|
Hyponatremia, Inappropriate antidiuretic hormone secretion |
ORPHA:79139 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... |
OMIM:615830 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... |
ORPHA:228308 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth ho... |
ORPHA:562 |
Sneddon Syndrome |
|
Hypertension, Cerebral hemorrhage, Bicuspid aortic valve, Ischemic stroke |
OMIM:182410 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulating alpha-fetopro... |
OMIM:619991 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... |
OMIM:174000 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Chronic constipation, Episodic hypertension, Episodic vomiting |
OMIM:619483 |
Thoracomelic Dysplasia |
|
Abnormal fibula morphology, Genu valgum, Abnormal pelvic girdle bone morphology, Abnormal metaphy... |
ORPHA:1803 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Splenomegaly, Insulin-r... |
ORPHA:79083 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Increased serum lactate, Hyperammonemia, Lactic acidosis, Metabolic acidosis, Dysph... |
ORPHA:391428 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, S... |
ORPHA:29072 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis wi... |
ORPHA:525731 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Tetanus |
|
Tachycardia, Elevated circulating creatine kinase concentration, Bowel incontinence, Elevated uri... |
ORPHA:3299 |
Riboflavin Transporter Deficiency |
|
Hypertension, Hypogonadism, Diabetes insipidus, Dysphagia |
ORPHA:97229 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Alstrom Syndrome |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hy... |
OMIM:203800 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia |
OMIM:600666 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Acute kidney injury, Sinus tachycardia, Elevated circulating creatine kina... |
ORPHA:466650 |
Atelosteogenesis, Type Ii |
|
Sandal gap, Bifid humerus, Flat acetabular roof, Short greater sciatic notch, Abnormal pelvic gir... |
OMIM:256050 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,... |
ORPHA:465508 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Unilateral renal agenesis, Chronic kidney disea... |
ORPHA:93101 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Gastroparesis, Hypospadias, Increased serum lactate, Hyperammonemia, Lactic acidosis, Hypertensio... |
OMIM:614052 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Decreased glomerular filtration rate, Chronic kidney disease, Elevated circu... |
ORPHA:730 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci... |
OMIM:104200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc... |
OMIM:235400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Diarrhea, Elevated circulating creatinine concentration, Hy... |
OMIM:223900 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Overlap Myositis |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Abnorm... |
ORPHA:206572 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal ... |
ORPHA:183 |
Coach Syndrome 2 |
|
Hypertension, Elevated circulating creatinine concentration |
OMIM:619111 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Hype... |
ORPHA:251004 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,... |
ORPHA:324 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Nephronophthisis 1 |
|
Polyuria, Stage 5 chronic kidney disease, Hypertension, Hyposthenuria, Renal corticomedullary cys... |
OMIM:256100 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Cardiom... |
OMIM:266500 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsuli... |
ORPHA:79086 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Renal insufficiency, Proteinuria, Portal hypertension, Pericardial ef... |
OMIM:619487 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Diarrhea, Asymmetri... |
OMIM:252920 |
Ppoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality of the thyroid glan... |
ORPHA:97278 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Serotonin Syndrome |
|
Tachycardia, Diarrhea, Lactic acidosis, Hypertension, Hypotension, Acute kidney injury, Nausea |
ORPHA:43116 |
Somatostatinoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:97283 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Vomiting,... |
OMIM:608836 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Total an... |
ORPHA:494424 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, E... |
ORPHA:247691 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Bowel incontinence, Maternal diabetes, Ectopic kidney,... |
ORPHA:3027 |
Postorgasmic Illness Syndrome |
|
Hypertension, Xerostomia, Palpitations |
ORPHA:279947 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevat... |
OMIM:617253 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Lactic acidosis, Nephrocalcinosis, Inflammation of the large intestine, Hypothyroidism, Tubuloint... |
ORPHA:79259 |
Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Multiple small medull... |
OMIM:216360 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec... |
OMIM:614921 |
Grfoma |
|
Hypercalcemia, Elevated circulating growth hormone concentration, Neoplasm of the thymus, Abnorma... |
ORPHA:97261 |
Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Splenomegaly, Hypertension, Mitral regurgitation, Pulmonary arterial hyp... |
OMIM:230800 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Club-shaped dist... |
OMIM:123000 |
Posterior Urethral Valve |
|
Renal insufficiency, Urinary incontinence, Dysuria, Urethral stenosis, Chronic kidney disease, St... |
ORPHA:93110 |
Juvenile Paget Disease |
|
Hypertension, Hyperuricemia |
ORPHA:2801 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Abnormality of thyroid physiology, Proteinuria, Minimal change glomeru... |
ORPHA:1830 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Bilat... |
ORPHA:2260 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Diarrhea, Cardiomegaly |
ORPHA:858 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... |
ORPHA:567546 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly, Increased serum lactate, Abnormal circulating ceruloplasmi... |
OMIM:620306 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Thickened cortex of long bones |
OMIM:607634 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
Bardet-Biedl Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension, Nephrotic syndrome, Hypoplasia o... |
ORPHA:110 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephro... |
OMIM:203780 |
Renal Dysplasia |
|
Multicystic kidney dysplasia, Abnormal renal calyx morphology, Renal insufficiency, Urinary incon... |
ORPHA:93108 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Chronic kidney disease, Increased LDL cholesterol concen... |
ORPHA:330015 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atri... |
ORPHA:371428 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Constipation, Gastroesophageal reflux, Cardiomegaly |
ORPHA:3137 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Pericarditis, Membranoproliferative glomerulonephritis, Renal insuff... |
ORPHA:91139 |
Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal pelvic girdle bone morp... |
ORPHA:3429 |
Papillorenal Syndrome |
|
Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr... |
OMIM:120330 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hyperkalemia |
OMIM:608885 |
Bronchial Neuroendocrine Tumor |
|
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... |
ORPHA:97287 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension, Vomiting |
ORPHA:2169 |
Glucagonoma |
|
Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:97280 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepato... |
ORPHA:99931 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension |
OMIM:603903 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Diarrhea, Elevated urinary dopamine level, Abnormality of u... |
OMIM:256700 |
Hartsfield Syndrome |
|
Hypospadias, Gonadotropin deficiency, Micropenis, Hypernatremia, Diabetes insipidus |
OMIM:615465 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... |
OMIM:307800 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... |
ORPHA:268 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Xerostomia, Oliguria, ... |
ORPHA:220393 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... |
ORPHA:653 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Transient ischemic attack, Proteinuria, Elevated circulating thyroid-stimula... |
OMIM:242900 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Diarrhea, Hypertension, Adrenocortical adenoma, Pheochr... |
ORPHA:139411 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Gastroesophageal reflux,... |
ORPHA:449291 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine, Increased le... |
OMIM:215600 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosis, Abnormal pelvic ... |
ORPHA:1788 |
Nephroblastoma |
|
Hematuria, Hypertension |
ORPHA:654 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... |
ORPHA:402075 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Alagille Syndrome |
|
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Abnormality of the ureter, H... |
ORPHA:52 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension, Renal hypoplasia, Absence of renal corticomedullary ... |
OMIM:619758 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:249 |
Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... |
ORPHA:411709 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Intestinal obstruction, Recurrent intrapulmonary hemor... |
ORPHA:900 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Increased serum lactate, Shortened PR ... |
OMIM:614947 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infarction, Pancr... |
ORPHA:892 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Renal cyst |
OMIM:614424 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Osteopetrosis, Autosomal Dominant 2 |
|
Fractures of the long bones, Abnormal pelvic girdle bone morphology |
OMIM:166600 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant di... |
OMIM:151660 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu... |
ORPHA:79126 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Chronic kidney disease, Myocardial infarction, Delayed puberty |
OMIM:208060 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate... |
OMIM:115310 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Or... |
OMIM:105210 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Telangiectasia of the skin, Transient ischemic attack, Hypospadi... |
ORPHA:286 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Splenomegaly, Chronic diarrhea, C... |
ORPHA:93473 |
Senior-Boichis Syndrome |
|
Portal hypertension, Chronic kidney disease, Renal hypoplasia, Stage 5 chronic kidney disease, He... |
ORPHA:84081 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Proteinuria |
OMIM:191830 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertensio... |
OMIM:301050 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... |
OMIM:616897 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dec... |
ORPHA:447 |
Isolated Epispadias |
|
Abnormal pelvic girdle bone morphology |
ORPHA:93928 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Gastroparesis, Decreased response to growth hormone stimulation test, Precocio... |
ORPHA:739 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Urinary incontinence, Cardiomegaly, Chronic diarrhea, Hepa... |
OMIM:268800 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Bowel incontinence, Hypertension, Pollakisuria, Hypotension, Dysphagia, Urinary bladder sphincter... |
ORPHA:93256 |
Alport Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephro... |
ORPHA:63 |
Primary Progressive Freezing Gait |
|
Hypertension, Urinary incontinence, Dysphagia |
ORPHA:75567 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Abnormal shoulder morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1422 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Diarrhea, Hypertension, Increased blood urea nitr... |
ORPHA:90321 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Pericardial effusion, Splenomegaly, Hematemesis, Diarrhea, Vasc... |
OMIM:615846 |
Werner Syndrome |
|
Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Hypertension, Hypogo... |
ORPHA:902 |
Hardikar Syndrome |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Renal insufficiency, Ventricular sept... |
OMIM:301068 |
Poliomyelitis |
|
Paralytic ileus, Hypertension, Hypovolemic shock, Vomiting, Hypotension, Dysphagia, Nausea |
ORPHA:2912 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus, Hypertension |
ORPHA:69663 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Decreased serum leptin, Right bundle branch block, Hypertension, Mitral ... |
OMIM:614008 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613159 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Hyperhomocystinemia, Hypertension, Ischemic stroke... |
ORPHA:542643 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Increased serum lactate, Aortic va... |
OMIM:220111 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Gastroesophageal reflux... |
OMIM:614653 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormal circulating protein concentration, Membranoproliferative glomerulon... |
ORPHA:48435 |
Alexander Disease |
|
Diabetes mellitus, Bowel incontinence, Sudden cardiac death, Precocious puberty, Hypertension, Co... |
ORPHA:58 |
Alkaptonuria |
|
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... |
ORPHA:56 |
Spondyloenchondrodysplasia |
|
Proteinuria, Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculiti... |
ORPHA:1855 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Abnor... |
ORPHA:391665 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic... |
OMIM:617729 |
Immunodeficiency 82 With Systemic Inflammation |
|
Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:619381 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Atrial septal defect, Hypertension, Pulmonary arterial hypertension, Hypoperistalsis |
OMIM:613834 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Portal hypertension, Elevated circulating C-reactive protein concentration, Raynaud... |
OMIM:615688 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Hypothyroidism, Transient hyperphenylalaninemia |
ORPHA:98808 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo... |
OMIM:194080 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Congestive heart failure, Ch... |
ORPHA:14 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenos... |
OMIM:208050 |
Xfe Progeroid Syndrome |
|
Hypertension, Renal insufficiency, Hypoalbuminemia, Proteinuria |
OMIM:610965 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... |
ORPHA:394 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Gastroparesis, Decreased circulating copper concentration, Subarachnoid ... |
ORPHA:139417 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Hypertension, Hypogonadism, Left ventricular h... |
OMIM:209900 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... |
OMIM:243910 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Vomiting, Gastroesophageal reflux, Hypoalbuminemia, Hypocholesterolemia, Atrial septa... |
OMIM:270400 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, Precocious puberty, Epispadias, Hypertension, Abnormal ca... |
ORPHA:2588 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Pancreatic endocrine tumor, Pituitary adenoma, Chronic kidney disease, Parat... |
ORPHA:805 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Nephrocalcinosis, Early onset of sexual maturation, Gastroesophageal reflu... |
OMIM:194050 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... |
ORPHA:217085 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Chronic constipation, Inapp... |
ORPHA:79330 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Bowe... |
ORPHA:365 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heparan sulfate excretion i... |
ORPHA:217093 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... |
ORPHA:904 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly |
ORPHA:158687 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Transient ischemic attack, Adrenal calcification, Car... |
ORPHA:51608 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Mitral valve prolapse |
OMIM:616914 |
Wagro Syndrome |
|
Hypertension, Proteinuria |
OMIM:612469 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... |
ORPHA:740 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Multiple renal cysts, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... |
ORPHA:99889 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Aplasia/Hypop... |
ORPHA:1112 |
Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Gastroesophageal reflux, Hypocalcemia, Vesicoureteral reflux, Atrial se... |
ORPHA:567 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Pyelonephritis, Hypertension, Duplication of renal pelvis, Type I diabetes ... |
ORPHA:2036 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Telangiectasia of the skin, Abnormal circulating leptin ... |
ORPHA:79474 |
Cockayne Syndrome |
|
Hepatomegaly, Neurogenic bladder, Diabetes mellitus, Renal insufficiency, Urinary incontinence, U... |
ORPHA:191 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Hypertension, Hyperbilirubinemia, At... |
OMIM:613610 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Hypertensive crisis |
ORPHA:1358 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Hypertension, Mi... |
OMIM:611962 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyper... |
OMIM:130650 |
Au-Kline Syndrome |
|
Chronic kidney disease, Hypertension, Constipation, Gastroesophageal reflux, Vesicoureteral reflu... |
OMIM:616580 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:963 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Diarrhea, Hypertension, Pulmonary arteri... |
OMIM:606721 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula... |
OMIM:300855 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomega... |
OMIM:252500 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h... |
OMIM:181270 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Atrioventricular bl... |
ORPHA:581 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension, Hypospadias |
OMIM:123790 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenomegal... |
OMIM:266920 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,... |
OMIM:602535 |
Cockayne Syndrome A |
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Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypertension, Thymic ho... |
OMIM:216400 |
Somatomammotropinoma |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:314769 |
Apert Syndrome |
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Hypertension |
ORPHA:87 |
Cantú Syndrome |
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Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Pierson Syndrome |
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Diffuse mesangial sclerosis, Proteinuria, Retinal hemorrhage, Stage 5 chronic kidney disease, Hyp... |
OMIM:609049 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Myocardial infarct... |
ORPHA:99413 |
Turner Syndrome |
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Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Myocardial infarct... |
ORPHA:881 |
Mosaic Monosomy X |
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Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Myocardial infarct... |
ORPHA:99228 |
Monosomy X |
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Prolonged QT interval, Bicuspid aortic valve, High urinary gonadotropin level, Myocardial infarct... |
ORPHA:99226 |
Congenital Disorder Of Glycosylation, Type Iim |
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Ureteropelvic junction obstruction, Hypertension, Gastroesophageal reflux, Atrial septal defect, ... |
OMIM:300896 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia |
OMIM:608013 |
Hallermann-Streiff Syndrome |
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Hypertension, Pulmonary arterial hypertension, Telangiectasia |
OMIM:234100 |
Bladder Exstrophy And Epispadias Complex |
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Abnormal pelvic girdle bone morphology |
OMIM:600057 |
Lethal Congenital Contracture Syndrome 10 |
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Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Orofaciodigital Syndrome I |
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Hypertension, Proteinuria, Polycystic kidney dysplasia, Abnormal heart morphology |
OMIM:311200 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ... |
ORPHA:3472 |
Familial Osteodysplasia, Anderson Type |
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Hypertension, Hyperuricemia |
ORPHA:2769 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Mucosal telangiectasiae, Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Cockayne Syndrome B |
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Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypertension, Arrhythmia |
OMIM:133540 |
Orofaciodigital Syndrome Type 1 |
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Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertension, Hydronephrosis, Exo... |
ORPHA:2750 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Adrenocortical cytomegaly, Ureteral duplication, Elevated circulating alpha-fetopro... |
ORPHA:116 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Hype... |
OMIM:210710 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Constipation, Cardiomegaly |
OMIM:618143 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Pineal cy... |
OMIM:300967 |
Blau Syndrome |
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Pericarditis, Splenomegaly, Nephropathy, Xerostomia, Stage 5 chronic kidney disease, Large vessel... |
ORPHA:90340 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
17Q11 Microdeletion Syndrome |
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Telangiectasia of the skin, Precocious puberty, Renovascular hypertension, Glomus jugular tumor, ... |
ORPHA:97685 |
Systemic Lupus Erythematosus |
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Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertension |
ORPHA:536 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria |
OMIM:230000 |
Blau Syndrome |
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Hypertension, Pericarditis |
OMIM:186580 |
Myhre Syndrome |
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Ventricular septal defect, Pericardial effusion, Hypertension, Atrial septal defect, Aortic valve... |
OMIM:139210 |
Neuroendocrine Neoplasm Of Appendix |
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Primary hypercortisolism, Intestinal carcinoid, Increased serum serotonin, Adrenocorticotropic ho... |
ORPHA:100079 |
Bohring-Opitz Syndrome |
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Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Vomiting, Bradycardia |
ORPHA:97297 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Diarrhea, Hepatosplenomegaly, Unconjugated h... |
OMIM:618278 |
Carney Complex |
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Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Neurofibromatosis, Type I |
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Parathyroid adenoma, Hypertension, Pheochromocytoma, Renal artery stenosis |
OMIM:162200 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Aicardi-Goutières Syndrome |
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Diabetes mellitus, Cardiomegaly, Raynaud phenomenon, Hepatosplenomegaly, Micropenis, Hypertrophic... |
ORPHA:51 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Neurofibromatosis Type 1 |
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Abnormality of the endocrine system, Precocious puberty, Hypertension, Pheochromocytoma, Delayed ... |
ORPHA:636 |
Keutel Syndrome |
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Hypertension, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Multicystic kidney dysplasia, Hypospadias, Unilateral renal agenesis, Hypertension, Atrial septal... |
OMIM:308205 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
Idiopathic Bronchiectasis |
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Cachexia |
ORPHA:60033 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
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OMIM:211400 |