Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Lactose Intolerance, Adult Type |
|
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... |
OMIM:223100 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperactive renin-angiotensin system, Metabolic acidosis, Dehydration, Diarrhea, Vomiting, Hypote... |
OMIM:264350 |
Aa Amyloidosis |
|
Adrenal insufficiency, Malabsorption, Nephrotic syndrome, Chronic kidney disease, Abdominal pain,... |
ORPHA:85445 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Diarrhea, Vomiting, Feeding difficulties in infancy,... |
OMIM:606528 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperactive renin-angiotensin system, Feeding difficulties, Metabolic acidosis, Dehydration, Diar... |
OMIM:177735 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Lactase Deficiency, Congenital |
|
Metabolic acidosis, Dehydration, Diarrhea, Lactose intolerance, Decreased small intestinal mucosa... |
OMIM:223000 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Nephrolithiasis, Malabsorption, Diarrhea, Abdominal pain |
OMIM:222900 |
Familial Hypoaldosteronism |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Feeding difficulties, Metabolic a... |
ORPHA:427 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
5-Oxoprolinase Deficiency |
|
Prolinuria, Enterocolitis, Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Increased l... |
OMIM:260005 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Renal Tubular Acidosis, Proximal |
|
Proximal renal tubular acidosis, Renal tubular acidosis, Hyperchloremic acidosis |
OMIM:179830 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Dysmenorrhea, Oligomenorrhea, Irregular menstruation, Hepatocellular carc... |
ORPHA:370 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Vomiting, Hypercalciuria, Hyperparathyroidism, Nephrocalcinosis |
OMIM:239199 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Dysmenorrhea, Irregular menstruation, Oligomenorrhea, Myoglobinuria, Hepa... |
ORPHA:264580 |
Trehalase Deficiency |
|
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting |
ORPHA:103909 |
Enteric Anendocrinosis |
|
Hyperchloremic metabolic acidosis, Malabsorption, Dehydration, Diarrhea, Vomiting, Type I diabete... |
ORPHA:83620 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Feeding difficulties, Increased serum lactate, Genera... |
ORPHA:255249 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Metabolic acidosis, Proximal renal tubular acidosis, Increased serum lactate, Oligohydramnios, Co... |
OMIM:615824 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Metabolic acidosis, Proximal renal tubular acidosis, Impaired renal tubular reabsorption of bicar... |
OMIM:604278 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Nephrolithiasis, Metabolic alkalosis, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circ... |
ORPHA:369929 |
Familial Hyperaldosteronism Type Iii |
|
Metabolic alkalosis, Intracranial hemorrhage, Epistaxis, Hypercalciuria, Adrenal hyperplasia, Abn... |
ORPHA:251274 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Diarrhea, Arrhythmia, Feeding difficulties in infancy, Transient hyperlip... |
OMIM:255120 |
Familial Hyperaldosteronism Type Ii |
|
Metabolic alkalosis, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Na... |
ORPHA:404 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Metabolic acidosis, Dehydration, Vomiting, Hypercalciuria, Distal renal tubular acidosis, Nephroc... |
OMIM:602722 |
Coproporphyria, Hereditary |
|
Constipation, Abdominal pain, Tachycardia, Increased urinary porphobilinogen, Elevated urinary de... |
OMIM:121300 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Acidosis, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Angioedema, Hereditary, 8 |
|
Facial edema, Abdominal pain, Diarrhea, Episodic vomiting, Edema of the dorsum of hands, Angioede... |
OMIM:619367 |
Familial Glucocorticoid Deficiency |
|
Constipation, Decreased circulating cortisol level, Diarrhea, Vomiting, Testicular adrenal rest t... |
ORPHA:361 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Decreased circulating renin level, Metabolic alkalosis, Increased urinary potass... |
ORPHA:231625 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Sex reversal, Adrenocorticotropic hormone excess, Hyperaldosteronism, Rena... |
OMIM:613743 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Metabolic acidosis, Polyuria, Hypercalciuria, Adrenal hyperpla... |
OMIM:613677 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Renal tubular acidosis, Feeding difficulties, Increased serum lactate, ... |
OMIM:614922 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Unilateral renal dysplasia, Chronic kidney disease, Nephrotic syndrome, Uteru... |
OMIM:146255 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Dysmenorrhea, Irregular menstruation, Oligomenorrhea, Hepatocellular carc... |
ORPHA:79240 |
Ectopic Aldosterone-Producing Tumor |
|
Ovarian neoplasm, Decreased circulating renin level, Metabolic alkalosis, Renal cortical adenoma,... |
ORPHA:231632 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Intracranial hemorrhage, Tachycardia, Diarrhea, ... |
ORPHA:449285 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Diarrhea, V... |
ORPHA:85450 |
Neuroendocrine Neoplasm Of Appendix |
|
Increased serum serotonin, Bowel urgency, Ovarian neoplasm, Constipation, Tricuspid stenosis, Int... |
ORPHA:100079 |
Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Bartter Syndrome, Type 3 |
|
Hyperactive renin-angiotensin system, Increased urinary potassium, Polyuria, Hypocalciuria, Hypok... |
OMIM:607364 |
Hyperaldosteronism, Familial, Type I |
|
Decreased circulating renin level, Abnormality of the urinary system, Adrenal hyperplasia, Adreno... |
OMIM:103900 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Dehydration, Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology |
OMIM:251850 |
Congenital Short Bowel Syndrome |
|
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Metabolic acidosis... |
OMIM:615237 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Metabolic acidosis, Tachycardia, Hypotension, Stomatitis |
ORPHA:79155 |
Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Abdominal distention, Hepatic failure, Metabolic acidosis, Hepatocellular... |
ORPHA:2088 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia, Cleft palate |
OMIM:181180 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperactive renin-angiotensin system, Abdominal distention, Metabolic alkalosis, Dehydration, Dia... |
OMIM:214700 |
Secondary Intestinal Lymphangiectasia |
|
Vomiting, Malabsorption, Intussusception, Right ventricular failure, Lymphedema, Edema, Secondary... |
ORPHA:90363 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Hepatic failure, Sudden cardiac death, Arrhythmia, Transient hyperlipidem... |
ORPHA:156 |
Neuroendocrine Tumor Of The Rectum |
|
Melena, Bowel urgency, Bloody diarrhea, Constipation, Tricuspid regurgitation, Abdominal pain, Hy... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Melena, Bowel urgency, Bloody diarrhea, Constipation, Tricuspid regurgitation, Abdominal pain, Hy... |
ORPHA:100082 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Alagille Syndrome 2 |
|
Renal tubular acidosis, Pulmonic stenosis, Hematuria, Renal cyst, Renal hypoplasia, Renal insuffi... |
OMIM:610205 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Metabolic acidosis, Glycosuria, Chronic diarrhea, Hypertonic... |
OMIM:606824 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Bicornuate uterus, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, H... |
ORPHA:93111 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Metabolic alkalosis, Increased urinary potassium, Palpitations... |
ORPHA:231580 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Renal tubular acidosis, Arrhythmia, Renal Fanconi syndrome, Third degree atri... |
OMIM:530000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Hypercholesterol... |
OMIM:615863 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Elevated fecal sodium, Inflammation of the large intestine, Polyhydramnios,... |
OMIM:616868 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Right ... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Increased serum serotonin, Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Right ... |
ORPHA:100077 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Feeding difficulties, Orthostatic hypotension, Dehydrati... |
ORPHA:556030 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Nephrolithiasis, Renal tubular acidosis |
OMIM:267300 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hyperchloremic metabolic acidosis, Metabolic acidosis, Anorexia, Distal renal tubular acidosis, I... |
OMIM:611590 |
Gitelman Syndrome |
|
Graves disease, Constipation, Metabolic alkalosis, Diarrhea, Type I diabetes mellitus, Proteinuri... |
ORPHA:358 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Bowel urgency, Bloody diarrhea, Increased serum serotonin, Tricuspid regurgitation, Abdom... |
ORPHA:100080 |
Microvillus Inclusion Disease |
|
Abdominal distention, Abnormal renal physiology, Metabolic acidosis, Hypovolemia, Dehydration, Di... |
ORPHA:2290 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Metabolic acidosis, Vomiting, ... |
OMIM:619445 |
Congenital Hypothyroidism |
|
Nephrolithiasis, Abnormality of the thyroid gland, Constipation, Abdominal distention, Macrogloss... |
ORPHA:442 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Hypovolemic shock, Metabolic acidosis, Dehydration, Glucocortocoid-insensitive pr... |
ORPHA:171876 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Renal juxtaglomerular... |
OMIM:601678 |
Addison Disease |
|
Thymoma, Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, I... |
ORPHA:85138 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... |
ORPHA:189427 |
Neuroendocrine Tumor Of Stomach |
|
Melena, Bowel urgency, Increased serum serotonin, Hepatic failure, Facial telangiectasia, Poor ap... |
ORPHA:100075 |
Pyruvate Carboxylase Deficiency |
|
Increased serum lactate, Proximal renal tubular acidosis, Lactic acidosis |
OMIM:266150 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Hyperchloremic metabolic acidosis, Malabsorption, Aminoaciduria, Hyperuricosuria... |
ORPHA:47159 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... |
ORPHA:103907 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Metabolic ketoacidosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Glycosuria,... |
ORPHA:263455 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Gastroesophageal reflux, Renal tubular acidosis, Hypertrophic cardiomyopathy, Increased serum lac... |
OMIM:615471 |
Andersen-Tawil Syndrome |
|
High palate, Renal tubular dysfunction, Torsade de pointes, Abnormal T-wave, Premature ventricula... |
ORPHA:37553 |
Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Orthostatic hypotension, Elevated serum 11-deoxycortisol... |
ORPHA:556037 |
Duodenal Neuroendocrine Tumor |
|
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Right ventricular failure, Pal... |
ORPHA:100076 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Decreased glomerular filtration rate, Reduced renal corticomedullary d... |
OMIM:602522 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration, Methylmalonic aciduria, Diarrhea, Vomiting, Ketoacidosis |
OMIM:614265 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Vomiting, Erectile dysfun... |
ORPHA:91349 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephrogenic diabetes insipidus, Renal tubular acidosis, Aminoaciduria, Metabolic acidosis, Nephro... |
OMIM:613404 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Ascites, Abnormal esophagus physiology, ... |
ORPHA:2198 |
Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Pancreatitis, Abdominal pain, Abnormal renal tubule morphology, Diarrhea, Arrhyt... |
ORPHA:188 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Nausea, Hypertension, E... |
ORPHA:403 |
Pearson Marrow-Pancreas Syndrome |
|
Malabsorption, Exocrine pancreatic insufficiency, 3-Methylglutaric aciduria, Steatorrhea, Metabol... |
OMIM:557000 |
Vici Syndrome |
|
High palate, Renal tubular acidosis, Feeding difficulties, Feeding difficulties in infancy, Urete... |
ORPHA:1493 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hypernatriuria, Poly... |
OMIM:613090 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Leigh Syndrome With Cardiomyopathy |
|
Decreased liver function, Renal tubular acidosis, Renal agenesis, Abnormal renal tubule morpholog... |
ORPHA:70474 |
East Syndrome |
|
Metabolic alkalosis, Increased circulating renin level, Renal magnesium wasting, Renal sodium was... |
ORPHA:199343 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Tenesmus, Sterc... |
ORPHA:209964 |
Cholera |
|
Abdominal cramps, Abnormality of renal excretion, Acidosis, Abdominal pain, Hypovolemic shock, De... |
ORPHA:173 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperactive renin-angiotensin system, Ambiguous genitalia, female, Abnormal external genitalia, D... |
ORPHA:90794 |
Attrv30M Amyloidosis |
|
Impotence, Constipation, Abnormal renal physiology, Diarrhea, Arrhythmia, Nephropathy, Cardiomyop... |
ORPHA:85447 |
Odontoma-Dysphagia Syndrome |
|
Dysphagia, Abnormal esophagus morphology |
OMIM:164330 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Primary ameno... |
OMIM:600955 |
Corticosterone Methyloxidase Type I Deficiency |
|
Decreased circulating aldosterone level, Dehydration, Vomiting, Hypotension, Increased circulatin... |
OMIM:203400 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Anorexia, Diarrhea, Vomiting, Shock, Edema, Abnormal intestine morphology, Secretory diarrhea |
OMIM:600351 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Chronic kidney disease, Renal tubular acidosis, Abdominal... |
OMIM:248250 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Renal tubular acidosis, Renal tubular atrophy, Reduced renal cort... |
OMIM:208085 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Urinary urgency, Hypotension, Urinary incontinence |
OMIM:156310 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Gastritis, Pulmonary edema, Metabolic acidosis, Tachycardia, Hematuria... |
ORPHA:31826 |
Intestinal Dysmotility Syndrome |
|
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... |
OMIM:620045 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Acidosis, Abdominal distention, Metabolic acidosis, Increased serum lactate, Per... |
ORPHA:391673 |
Acute Adrenal Insufficiency |
|
Constipation, Decreased circulating cortisol level, Orthostatic hypotension, Diarrhea, Increased ... |
ORPHA:95409 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Constipation, Increased urinary pot... |
OMIM:241200 |
Bartter Syndrome Type 4 |
|
Hyperactive renin-angiotensin system, Hyperprostaglandinuria, Chronic kidney disease, Impaired re... |
ORPHA:89938 |
Diarrhea 4, Malabsorptive, Congenital |
|
Hyperchloremic metabolic acidosis, Dehydration, Diarrhea, Vomiting |
OMIM:610370 |
Hirschsprung Disease |
|
Constipation, Abdominal pain, Diarrhea, Intestinal obstruction, Intestinal polyposis, Nausea and ... |
ORPHA:388 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
High palate, Renal tubular dysfunction, Decreased liver function, Aminoaciduria, Hypertrophic car... |
OMIM:220110 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Esophageal varix, Feeding difficulties, Dehydra... |
ORPHA:275761 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Constipation, Abdominal pain, Metabolic acidosis, ... |
OMIM:248360 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Visceral Myopathy 1 |
|
Constipation, Abdominal distention, Abdominal pain, Pancreatitis, Diarrhea, Vomiting, Polyhydramn... |
OMIM:155310 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Tachycardia, Arrhythmia, Diarrhea, Hypotension, Vomiting, Reduced left ventricul... |
ORPHA:542323 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Diarrhea 6 |
|
Diarrhea, Abdominal pain |
OMIM:614616 |
Visceral Myopathy 2 |
|
Megacystis, Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Ne... |
OMIM:619350 |
Wild Type Attr Amyloidosis |
|
Nephrotic syndrome, Pulmonary edema, Hypertrophic cardiomyopathy, Orthostatic hypotension due to ... |
ORPHA:330001 |
Leigh Syndrome |
|
Renal tubular dysfunction, Nephrotic syndrome, Renal tubular acidosis, Lacticaciduria, Feeding di... |
ORPHA:506 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Decreased liver function, Aminoaciduria, Hypertrophic cardiomyopathy, ... |
ORPHA:436271 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Pharyngeal edema, Facial edema, Abnormal soft palate morphology, Abdominal pain... |
ORPHA:100050 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Pituitary adenoma, Adrenocorticotropic hormone deficiency, Constipation, Grav... |
ORPHA:199299 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Subarachnoid hemorrhage, Hematuria, Vomiting, Myocardial infarction,... |
ORPHA:90068 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Pulmonary edema, Abnormal renal tubular resorption, Sudden cardiac death,... |
ORPHA:73224 |
Prolactinoma |
|
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Vomiting, Er... |
ORPHA:2965 |
Rabies |
|
Anorexia, Sudden cardiac death, Diarrhea, Nausea and vomiting |
ORPHA:770 |
Tyrosinemia, Type I |
|
Melena, Paralytic ileus, Hepatic failure, Metabolic acidosis, Acute hepatic failure, Hepatocellul... |
OMIM:276700 |
Immunodeficiency 31C |
|
Diarrhea, Hypothyroidism, Villous atrophy, Delayed puberty, Diabetes mellitus, Abnormal intestine... |
OMIM:614162 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Polyuria, Hypocalciuria, Hypokalemic metabolic alkalosis, Increased circulating renin level, Hype... |
OMIM:612780 |
Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Elevated urinary vanillylmandelic acid, Parathyroid adenoma, Elevate... |
OMIM:171400 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Feeding difficulties, Metabolic a... |
ORPHA:411634 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Distal renal tubular acidosis, Nephrocalcinosis, Impaired urinary acidification |
OMIM:179800 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Colchicine Poisoning |
|
Abnormality of acid-base homeostasis, Metabolic acidosis, Hypovolemia, Dehydration, Diarrhea, Arr... |
ORPHA:31824 |
Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Bowel urgency, Elevated circulating growth hormone concentration, Tric... |
ORPHA:97287 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Adrenal calcification, Diarrhea, Hypertriglyceridemia, Esophageal varix, Hyperch... |
ORPHA:75234 |
Leprechaunism |
|
Hyperinsulinemia, Abdominal distention, Hypercalciuria, Long penis, Enlarged kidney, Enlarged ova... |
ORPHA:508 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Metrorrhagia, Pulmonic stenosis, Mitral regurgit... |
ORPHA:99147 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Feeding difficulties, Diarrhea, Vomiting, Proximal tubulopathy, Severe lactic acid... |
OMIM:612075 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Organic aciduria, Pancreatitis, Stress/infection-induced lactic acidosis, Renal tubular acidosis |
ORPHA:431361 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Abdominal pain, Telangiectasia macularis eruptiva perstans, Diarrhea,... |
ORPHA:79455 |
Galactosemia I |
|
Hyperchloremic metabolic acidosis, Increased level of galactitol in urine, Decreased liver functi... |
OMIM:230400 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Abdominal pain, Metabolic acidosis, Hyperuricosuria, Proximal renal tubu... |
OMIM:229600 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Renal cyst, Vill... |
OMIM:602579 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal calcium-phosphate regulating hormone level, Constipation, Hematuria, Proteinuria, Nephro... |
ORPHA:534 |
Aggressive Systemic Mastocytosis |
|
Abdominal cramps, Decreased liver function, Malabsorption, Abdominal pain, Anorexia, Diarrhea, Hy... |
ORPHA:98850 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Hyperchloremic metabolic acidosis, Acidosis, Constipation, Aminoacidur... |
ORPHA:411629 |
Ganglioneuroma |
|
Episodic abdominal pain, Neoplasm of the adrenal gland, Abnormality of the adrenal glands, Multip... |
ORPHA:251992 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
High palate, Oligohydramnios, Constipation, Hypotension |
OMIM:618480 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Sepsis In Premature Infants |
|
Decreased liver function, Abdominal distention, Enterocolitis, Metabolic acidosis, Tachycardia, D... |
ORPHA:90051 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... |
ORPHA:263665 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Abdominal pain, Abdominal distention, Hyper... |
ORPHA:298 |
Cardiogenic Shock |
|
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... |
ORPHA:97292 |
Porphyria, Acute Intermittent |
|
Dysuria, Paralytic ileus, Constipation, Abdominal pain, Hepatocellular carcinoma, Elevated urinar... |
OMIM:176000 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
High palate, Constipation, Stage 3 chronic kidney disease, Increased serum lactate, Renal Fanconi... |
OMIM:619743 |
Whipple Disease |
|
Malabsorption, Abdominal pain, Anorexia, Diarrhea, Myocarditis, Hypotension, Hypothyroidism, Myoc... |
ORPHA:3452 |
Dengue Fever |
|
Cerebral hemorrhage, Abdominal pain, Diarrhea, Hypotension, Gastrointestinal hemorrhage, Nausea a... |
ORPHA:99828 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Precocious puberty, Impotence, Decreased response to grow... |
ORPHA:91354 |
Infant Botulism |
|
Constipation, Abdominal pain, Anorexia, Xerostomia, Hypotension, Dysphagia, Hypertension, Cardiac... |
ORPHA:178478 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Acidosis, Metabolic acidosis, Increased serum lactate, Anorexia, Diarrhea, Dehydration... |
ORPHA:134 |
Lujo Hemorrhagic Fever |
|
Abdominal cramps, Odynophagia, Facial edema, Metabolic acidosis, Diarrhea, Vomiting, Myocarditis,... |
ORPHA:319213 |
Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Metabolic acidosis, Glycosuria, Hematuria, Proteinuria, Stage ... |
OMIM:219800 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Diarrhea, Hematuria, Vomiting, Proteinuria, Decreas... |
ORPHA:340 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Nephrolithiasis, Hypergonadotropic hypogonadism, Diarrhea, Arrhythmia, Dilated cardiomyopathy, Na... |
ORPHA:352447 |
Serotonin Syndrome |
|
Hepatic failure, Tachycardia, Diarrhea, Hypotension, Nausea, Acute kidney injury, Hypertension, L... |
ORPHA:43116 |
Relapsing Fever |
|
Abdominal pain, Abnormality of the urinary system, Tachycardia, Diarrhea, Hematuria, Hypotension,... |
ORPHA:91547 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Renal Tubular Acidosis Iii |
|
Nephrolithiasis, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis |
OMIM:267200 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Secretory Component Deficiency |
|
Intermittent diarrhea |
OMIM:269650 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Gastroesophageal reflux, Stage 2 chronic kidney disease, Hypospadias, Orthostatic hypotension, Re... |
OMIM:191800 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Abdominal pain, Steatorrhea, Diarrhea, Abnormality of the gastrointestinal tract, ... |
ORPHA:2070 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Metabolic acidosis, Polyuria, Renal dysplasia, Hematochezia, Polyhydramnios, Hypothyroidism, Hype... |
OMIM:618183 |
Alg1-Cdg |
|
Decreased liver function, Nephrotic syndrome, Abnormality of the kidney, Abnormality of the gastr... |
ORPHA:79327 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Subarachnoid hemorrhage, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Immunodeficiency 19 |
|
Diarrhea |
OMIM:615617 |
Cap Polyposis |
|
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... |
ORPHA:160148 |
Thrombotic Thrombocytopenic Purpura |
|
Abdominal pain, Diarrhea, Arrhythmia, Hematuria, Myocardial infarction, Renal insufficiency, Acut... |
ORPHA:54057 |
Mpi-Cdg |
|
Decreased liver function, Hyperinsulinemic hypoglycemia, Diarrhea, Vomiting, Hypothyroidism, Prot... |
ORPHA:79319 |
Gitelman Syndrome |
|
Constipation, Abdominal pain, Hypokalemic alkalosis, Polyuria, Hypocalciuria, Nocturia, Palpitati... |
OMIM:263800 |
Combined Malonic And Methylmalonic Acidemia |
|
Acidosis, Methylmalonic aciduria, Dehydration, Vomiting, Nasogastric tube feeding, Dicarboxylic a... |
ORPHA:289504 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Impotence, Decreased fertility in males, Central adrenal insufficien... |
ORPHA:91347 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Legionnaires Disease |
|
Pancreatitis, Abdominal pain, Anorexia, Diarrhea, Arrhythmia, Hematuria, Myocarditis, Hypotension... |
ORPHA:549 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea |
OMIM:614102 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Dehydration, Diarrhea, Hematochezia, Protein-losing enteropathy, Edema |
ORPHA:103910 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Nephrolithiasis, Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Nephrotic syndrome, Gastritis, Hypospadias, Glandular hypospadias, Diarrhea, Shawl scrotum |
ORPHA:2575 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal neoplasm, Chronic kidney disease, Dyspepsia, Gastroesophageal reflux, Uterine neoplasm... |
ORPHA:1018 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... |
ORPHA:411696 |
Familial Mediterranean Fever |
|
Constipation, Pancreatitis, Diarrhea, Myocardial infarction, Pedal edema, Proteinuria, Pericardit... |
ORPHA:342 |
Mercury Poisoning |
|
Episodic abdominal pain, Anorexia, Episodic vomiting, Tachycardia, Hypotension, Nausea, Acute kid... |
ORPHA:330021 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Diarrhea, Vomiting, Glutaric aciduria, Hypertension, Goiter |
OMIM:231690 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Anal atresia, Constipation, Intestinal atresia, Cryptorchidism, Intesti... |
ORPHA:2970 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia |
OMIM:191390 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Galactosemia |
|
Feeding difficulties, Hepatic failure, Oligomenorrhea, Primary amenorrhea, Diarrhea, Vomiting, Se... |
ORPHA:352 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Hyperlipidemia, Type II diabetes mellitus, Cerebral hemorrhage, In... |
ORPHA:31825 |
Diffuse Cutaneous Mastocytosis |
|
Abdominal pain, Diarrhea, Vomiting, Hypotension, Malnutrition, Gastrointestinal hemorrhage, Peau ... |
ORPHA:79456 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Malakoplakia |
|
Neoplasm of the rectum, Neoplasm of the colon, Dysuria, Orchitis, Abdominal pain, Diarrhea, Abnor... |
ORPHA:556 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... |
ORPHA:913 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal colic |
ORPHA:35122 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea |
OMIM:613217 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Renal tubular acidosis, High, narrow palate, Feeding difficulties, Metabolic acidosis, Hematochez... |
OMIM:619575 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
Adult Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Pancreatitis, Metabolic acidosis, Diabetic ketoacidosis, Vasculitis, Hypotension... |
ORPHA:70578 |
Analbuminemia |
|
Edema, Oligohydramnios, Hypotension, Hypercholesterolemia |
OMIM:616000 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Impotence, Odynophagia, Budd-Chiari syndrome, Episodic abdominal pain, He... |
ORPHA:447 |
Ppoma |
|
Cholelithiasis, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... |
ORPHA:97278 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Hemoglobinuria, Pe... |
ORPHA:90038 |
Fabry Disease |
|
Angina pectoris, Abdominal pain, Diarrhea, Arrhythmia, Vomiting, Hypohidrosis, Myocardial infarct... |
OMIM:301500 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Dehydration, Diarrhea, Vomiting, Edema, Hypertension |
OMIM:616069 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Immunodeficiency 104 |
|
Diarrhea, Gastroesophageal reflux |
OMIM:608971 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Tachycardia, Hypotension, Mixed respiratory and metabolic acidosis |
OMIM:145600 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperchloremic metabolic acidosis, Chronic kidney disease, Bicarbonate-w... |
ORPHA:3337 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Malabsorption, Diarrhea |
OMIM:229050 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Wolman Disease |
|
Adrenal insufficiency, Abdominal distention, Hepatic failure, Steatorrhea, Adrenal calcification,... |
ORPHA:75233 |
Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Mccune-Albright Syndrome |
|
Pancreatitis, Abnormal endocrine physiology, Benign gastrointestinal tract tumors, Ovarian cyst, ... |
ORPHA:562 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Malabsorption, Adrenal insufficiency, Decreased circulating a... |
OMIM:240300 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abdominal distention, Cryptorchidism, Intestinal malrotation, Hydroureter, Multicystic kidney dys... |
ORPHA:2241 |
Chylomicron Retention Disease |
|
Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Malnutrition |
OMIM:246700 |
Scrub Typhus |
|
Abdominal pain, Hypotension, Myocarditis, Renal insufficiency, Nausea and vomiting, Hyperhidrosis |
ORPHA:83317 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Bacterial Toxic-Shock Syndrome |
|
Abdominal pain, Metabolic acidosis, Increased serum lactate, Peritonitis, Recurrent urinary tract... |
ORPHA:36234 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Abdominal pain, Stomach cancer, Anorexia, Diarrhea, Furrowed tongue, Intestinal po... |
ORPHA:2930 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Hepatocellular Carcinoma |
|
Budd-Chiari syndrome, Abdominal distention, Type II diabetes mellitus, Metabolic alkalosis, Abdom... |
ORPHA:88673 |
Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Vomiting, Low-output congestive heart failure, Prolonged ... |
ORPHA:66529 |
Reticular Dysgenesis |
|
Dehydration, Malabsorption, Diarrhea, Aplasia/Hypoplasia of the thymus |
ORPHA:33355 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Gracile Syndrome |
|
Renal Fanconi syndrome, Lactic acidosis |
ORPHA:53693 |
Grfoma |
|
Cholelithiasis, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... |
ORPHA:97261 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Budd-Chiari syndrome, Abdominal pain, Diarrhea, Pulmonary embolism, Vomiting, Inte... |
OMIM:226300 |
Osteopetrosis With Renal Tubular Acidosis |
|
High palate, Nephrolithiasis, Secondary hyperparathyroidism, Renal tubular acidosis, Metabolic ac... |
ORPHA:2785 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Non-Syndromic Posterior Hypospadias |
|
Anal atresia, Abnormality of the endocrine system, Cleft palate, Bifid scrotum, Micropenis, Ureth... |
ORPHA:95706 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Neuroleptic Malignant Syndrome |
|
Metabolic acidosis, Dehydration, Myoglobinuria, Tachycardia, Pulmonary embolism, Arrhythmia, Hypo... |
ORPHA:94093 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Hypothyroidism, Protein-losin... |
OMIM:608104 |
Systemic Sclerosis |
|
Myocarditis, Proteinuria, Pericarditis, Albuminuria, Abnormal large intestine morphology, Joint s... |
ORPHA:90291 |
Cystinosis |
|
Renal tubular dysfunction, Malabsorption, Nephrogenic diabetes insipidus, Aminoaciduria, Dehydrat... |
ORPHA:213 |
Pituitary Apoplexy |
|
Adrenocorticotropic hormone deficiency, Impotence, Pituitary adenoma, Elevated circulating growth... |
ORPHA:95613 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Feeding difficulties, Polyhydramnios, Intermittent diarrhea, Malnutrition |
OMIM:619971 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Classic Galactosemia |
|
Feeding difficulties, Hepatic failure, Oligomenorrhea, Primary amenorrhea, Diarrhea, Vomiting, De... |
ORPHA:79239 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Urinary bladder sphincter dysfunction, Impotence, Hypotension, Hypothyroidism, Dysphagia, Hyperte... |
ORPHA:93256 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Subdural hemorrhage, Hepatic failure, Hemothorax, Diarrhea, Hematuria, My... |
ORPHA:99827 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Abdominal cramps, Malabsorption, Early satiety, Constipation, Abdominal pain, Diarrhea, Vomiting,... |
OMIM:603041 |
Alagille Syndrome 1 |
|
Exocrine pancreatic insufficiency, Renal tubular acidosis, Hepatic failure, Hepatocellular carcin... |
OMIM:118450 |
Somatostatinoma |
|
Medullary thyroid carcinoma, Constipation, Steatorrhea, Adrenocortical adenoma, Neoplasm of the s... |
ORPHA:97283 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, Ab... |
ORPHA:2869 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Abdominal pain, Anorexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis,... |
OMIM:175500 |
American Trypanosomiasis |
|
Aganglionic megacolon, Abdominal pain, Diarrhea, Arrhythmia, Abnormal large intestine physiology,... |
ORPHA:3386 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Meningococcal Meningitis |
|
Projectile vomiting, Anorexia, Hypotension, Shock, Renal insufficiency |
ORPHA:33475 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Multiple Endocrine Neoplasia Type 1 |
|
Melena, Pituitary growth hormone cell adenoma, Impotence, Constipation, Increased serum serotonin... |
ORPHA:652 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Peutz-Jeghers Syndrome |
|
Bladder polyp, Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Uterine neoplasm, ... |
OMIM:175200 |
Botulism |
|
Constipation, Abdominal pain, Xerostomia, Arrhythmia, Diarrhea, Urinary retention, Dysphagia, Nau... |
ORPHA:1267 |
Acute Intermittent Porphyria |
|
Dark urine, Ileus, Dysuria, Pseudobulbar paralysis, Constipation, Abdominal pain, Abdominal diste... |
ORPHA:79276 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Metabolic alkalosis, In... |
ORPHA:786 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, 3-Methylglutaric aciduria, Metabolic acidosis, Increased serum lactate, Anorexia, Diar... |
ORPHA:20 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Hydrops fetalis, Tubulointerstitial fibrosis, Polyhydramnios, Esophageal varix, ... |
OMIM:232500 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Dehydration, Tubulointerstitial fibrosis, Enla... |
OMIM:263200 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration |
ORPHA:140286 |
Myopathy, Myofibrillar, 1 |
|
Constipation, Restrictive cardiomyopathy, Diarrhea, Third degree atrioventricular block, Dilated ... |
OMIM:601419 |
Renal Tubular Dysgenesis |
|
Abnormality of the urinary system, Renotubular dysgenesis, Hypotension, Oligohydramnios, Anuria |
OMIM:267430 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Mastocytosis |
|
Telangiectasia of the skin, Anorexia, Diarrhea, Arrhythmia, Hypotension, Angioedema, Gastrointest... |
ORPHA:98292 |
Marburg Hemorrhagic Fever |
|
Odynophagia, Pancreatitis, Diarrhea, Vomiting, Pericarditis, Bloody diarrhea, Dehydration, Tachyc... |
ORPHA:99826 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia |
OMIM:143880 |
Satoyoshi Syndrome |
|
Amenorrhea, Malabsorption, Hypoplasia of the uterus, Diarrhea |
OMIM:600705 |
Multiple Endocrine Neoplasia Type 2 |
|
Medullary thyroid carcinoma, Constipation, Elevated circulating parathyroid hormone level, Diarrh... |
ORPHA:653 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Nipah Virus Disease |
|
Anorexia, Nausea and vomiting, Hypotension |
ORPHA:99825 |
Ochoa Syndrome |
|
Constipation, Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral o... |
ORPHA:2704 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Anal atresia, Abdominal distention, Intestinal malrotation, Ureteral duplication, Polyhydramnios,... |
OMIM:270420 |
Lowe Oculocerebrorenal Syndrome |
|
Constipation, Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Proteinuria... |
OMIM:309000 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Lissencephaly, X-Linked, 2 |
|
High palate, Micropenis, Diarrhea, Feeding difficulties in infancy, Ambiguous genitalia, Decrease... |
OMIM:300215 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Glucag... |
OMIM:131100 |
Foodborne Botulism |
|
Constipation, Abdominal pain, Xerostomia, Arrhythmia, Diarrhea, Urinary retention, Dysphagia, Nau... |
ORPHA:228371 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Microscopic Polyangiitis |
|
Pancreatitis, Abdominal pain, Nausea and vomiting, Peritonitis, Diarrhea, Arrhythmia, Hematuria, ... |
ORPHA:727 |
Stevens-Johnson Syndrome |
|
Dysuria, Dyspareunia, Pancreatitis, Abdominal pain, Acute hepatic failure, Sudden cardiac death, ... |
ORPHA:36426 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Malabsorption, Acidosis, Abdominal distention, Glycosuria, Generalized... |
OMIM:227810 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Vipoma |
|
Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating prolactin con... |
ORPHA:97282 |
Porphyria |
|
Abnormal urinary color, Constipation, Abdominal pain, Anorexia, Diarrhea, Hypertension, Nausea an... |
ORPHA:738 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Nephrotic syndrome, Abdominal distention, Nephritis, Abdominal pain, Raynaud phenomen... |
ORPHA:93552 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Abdominal pain, Hemoglobinuria, Vomiting, Hypotension, Naus... |
ORPHA:244242 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Glycosuria, Stage 5 chronic kidney disease |
OMIM:268315 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Increased urinary porphobilinogen, ... |
ORPHA:100924 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Non-Functioning Paraganglioma |
|
Hypercalcemia |
ORPHA:94080 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Episodic abdominal pain, Intestinal malrotation, Vomiting, Colonic diverticula, Intestinal pseudo... |
OMIM:243180 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Gastroesophageal reflux, Constipation, Abnormal renal physiology, Orthostatic hypotension, Tachyc... |
OMIM:223900 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abdominal cramps, Pancreatitis, Diarrhea, Vomiting, Myocarditis, Generalized edema, Decreased uri... |
ORPHA:544482 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Lassa Fever |
|
Facial edema, Abdominal pain, Diarrhea, Oliguria, Shock, Menometrorrhagia, Dysphagia, Nausea and ... |
ORPHA:99824 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Diarrhea, Colitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Glucagonoma |
|
Constipation, Steatorrhea, Adrenocortical adenoma, Diarrhea, Increased circulating prolactin conc... |
ORPHA:97280 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Diarrhea, Hepatocellular adenoma, Enlarged kidney, P... |
ORPHA:79259 |
Radiation Proctitis |
|
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... |
ORPHA:70475 |
Familial Mediterranean Fever |
|
Crohn's disease, Nephrotic syndrome, Orchitis, Episodic abdominal pain, Abdominal pain, Peritonit... |
OMIM:249100 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Shigellosis |
|
Abdominal cramps, Paralytic ileus, Acute colitis, Bloody mucoid diarrhea, Bloody diarrhea, Abdomi... |
ORPHA:810 |
Melas |
|
Constipation, Diarrhea, Vomiting, Type I diabetes mellitus, Proteinuria, Proximal tubulopathy, In... |
ORPHA:550 |
Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic constipat... |
ORPHA:261222 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hypotension, Dicarboxylic aciduria, Ventricular tachycardia, C... |
OMIM:212138 |
Hyperprolinemia Type 2 |
|
Prolinuria, Hydroxyprolinuria, Increased urine alpha-ketoglutarate concentration, Feeding difficu... |
ORPHA:79101 |
Carney Triad |
|
Abdominal pain, Gastrointestinal stroma tumor, Anorexia, Adrenocortical adenoma, Pheochromocytoma... |
ORPHA:139411 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Malabsorption, Exocrine pancreatic insufficiency, Hypoplasia of penis, Hypohidrosis, Ambiguous ge... |
ORPHA:452 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine |
OMIM:615767 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis |
OMIM:616457 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Anal atresia, Aganglionic megacolon, Hydronephrosis |
OMIM:235760 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Abnormality of the gastr... |
ORPHA:1876 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hepatic failure, Intestinal malrotation, Hydroureter, Hydronephrosis, Portal hypertension, Microc... |
OMIM:619431 |
Non-Acquired Panhypopituitarism |
|
Amenorrhea, Infertility, Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased re... |
ORPHA:90695 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Diarrhea, Arrhythmia, Dilated cardiomyopathy, Nausea |
OMIM:615084 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Multiple Endocrine Neoplasia, Type Iib |
|
High palate, Elevated calcitonin, Medullary thyroid carcinoma, Constipation, High, narrow palate,... |
OMIM:162300 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia |
OMIM:241500 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Abdominal pain, Pleural empyema, Diarrhea, Constrictive pericardi... |
ORPHA:67 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Decreased glomerular filtration rate, Hepatocellul... |
OMIM:232200 |
Currarino Syndrome |
|
Hypoplasia of penis, Bifid scrotum, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m... |
ORPHA:1552 |
Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Hypospadias, Cryptorchidism, Hypotension |
ORPHA:439822 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea |
ORPHA:309108 |
Carcinoid Syndrome |
|
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Episodic abdominal pain, Tricuspid... |
ORPHA:100093 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Juvenile Polyposis Syndrome |
|
Multiple gastric polyps, Intussusception, Abdominal pain, Duodenal adenocarcinoma, Diarrhea, Hema... |
OMIM:174900 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... |
OMIM:174800 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Nephrotic syndrome, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Nonimmune hydrops feta... |
OMIM:212065 |
Central Diabetes Insipidus |
|
Anorexia, Dehydration, Diarrhea, Nocturia, Nausea and vomiting, Diabetes insipidus |
ORPHA:178029 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Diarrhea, Villous atrophy, Chronic diarrhea |
OMIM:614602 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Budd-Chiari Syndrome |
|
Malabsorption, Abdominal pain, Acute hepatic failure, Peritonitis, Intestinal obstruction, Gastro... |
ORPHA:131 |
Poliomyelitis |
|
Paralytic ileus, Hypovolemic shock, Anorexia, Vomiting, Hypotension, Nausea, Dysphagia, Hypertension |
ORPHA:2912 |
Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Membranoproliferative glomerulonephritis, Type I diabetes mellitus, Prot... |
OMIM:619858 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Diarrhea, Vomiting |
OMIM:239350 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Constipation, Gastroesophageal reflux, Diarrhea, Hypotension, Feeding difficulties in infancy, Hy... |
OMIM:608643 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Increased level of L-fucose in urine, Esophageal varix... |
OMIM:215600 |
Cog7-Cdg |
|
Abnormality of the kidney, Diarrhea, Feeding difficulties |
ORPHA:79333 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation, Hyperhidrosis |
OMIM:615548 |
Mirage Syndrome |
|
Adrenal insufficiency, Gastroesophageal reflux, Hypergonadotropic hypogonadism, Hypospadias, Intr... |
OMIM:617053 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Hyp... |
OMIM:243150 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased serum testo... |
OMIM:610489 |
Yao Syndrome |
|
Nephrolithiasis, Abdominal pain, Xerostomia, Diarrhea, Pericarditis |
OMIM:617321 |
Lead Poisoning |
|
Renal tubular dysfunction, Infertility, Chronic kidney disease, Abdominal cramps, Decreased male ... |
ORPHA:330015 |
Alexander Disease |
|
High palate, Precocious puberty, Constipation, Sudden cardiac death, Hypotension, Hyperhidrosis, ... |
ORPHA:58 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Diarrhea, Pancreatic h... |
OMIM:615710 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria, Low-molecular-we... |
OMIM:308990 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatic failure, Arrhythmia, Hypotension, Oliguria, Dicarboxylic aciduria, Ventricular tachycardi... |
ORPHA:159 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hypotension, Adrenocorticotropin defici... |
ORPHA:199296 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea |
OMIM:613501 |
Acute Liver Failure |
|
Adrenal insufficiency, Acidosis, Intracranial hemorrhage, Diarrhea, Vomiting, Hypotension, Alkalo... |
ORPHA:90062 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abdominal pain, Diarrhea, Tachycardia, Hypotension, Syncope, Peptic ulcer, Nausea |
ORPHA:98849 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Hyperchloremic metabolic acidosis, Constipation, Aminoaciduria, Decreased glomer... |
ORPHA:18 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pulmonary edema, Macroglossia, Hypotension, Shortened PR interval, Ascites, Cardiomyopathy, Conge... |
OMIM:261740 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatic failure, Steatorrhea, Acute hepatic failure, Adrenal calcification... |
OMIM:278000 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Tracheoesophageal fistula, Hypospadias, Hypothyroidism, Polyhyd... |
ORPHA:1923 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Congenital pyloric atresia, Polyhydramnios, Urethrovesical occlusion, Esoph... |
OMIM:226730 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Hypercalcemia |
OMIM:239200 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
OMIM:618440 |
Erythermalgia, Primary |
|
Constipation, Palpitations, Diarrhea, Xerostomia, Hyperhidrosis |
OMIM:133020 |
Typhoid |
|
Cardiac arrest, Constipation, Abdominal pain, Diarrhea, Arrhythmia, Gastrointestinal hemorrhage, ... |
ORPHA:99745 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction |
ORPHA:1380 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration, Polyuria, Diarrhea, Vomiting, Type I diabetes mellitus, Proximal tubulopathy |
OMIM:560000 |
Pure Autonomic Failure |
|
Dysuria, Impotence, Constipation, Orthostatic hypotension, Syncope, Abnormality of circulating ca... |
ORPHA:441 |
Inhalational Anthrax |
|
Internal hemorrhage, Abnormal sweat gland morphology, Vomiting, Hypotension |
ORPHA:247257 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Impotence, Constipation, Orthostatic hypotension due to autonomic dysfunction, Diarrhea, Cardiomy... |
OMIM:105210 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis, Aganglionic megacolon |
OMIM:235740 |
African Iron Overload |
|
Abnormal pancreas morphology, Increased circulating cortisol level, Abnormal thyroid morphology, ... |
ORPHA:139507 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
Chylomicron Retention Disease |
|