Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Dehydration, Metabolic acidosis, H... |
OMIM:264350 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Malabsorption, Abdominal pain, Chronic kidney disease, Ch... |
ORPHA:85445 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Generalized aminoaciduria, Renal tub... |
OMIM:606528 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Dehydration, Feeding difficulties, Metabolic acidosis, Hyperactive renin-angiotensin sy... |
OMIM:177735 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Nephrolithiasis, Malabsorption |
OMIM:222900 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Dehydration, Meta... |
OMIM:223000 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Di... |
ORPHA:427 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Increased level of L-py... |
OMIM:260005 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Metabolic alkalosis, Elevated serum bicarbonate concentration, Abdominal distenti... |
OMIM:214700 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Renal Tubular Acidosis, Proximal |
|
Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis |
OMIM:179830 |
Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Tach... |
OMIM:121300 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Diarrhea, Esophageal varix, Hepatocellular adenoma, Irregular... |
ORPHA:264580 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vomiting |
OMIM:239199 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Increased serum lactate, Cryptorchidism, Proximal renal tubular acidosis, Lactic acidosis, Metabo... |
OMIM:615824 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tubular acidosis, P... |
OMIM:604278 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Nephrolithiasis, Abnormal circulating renin,... |
ORPHA:369929 |
Enteric Anendocrinosis |
|
Portal hypertension, Malabsorption, Diarrhea, Dehydration, Vomiting, Type I diabetes mellitus, Hy... |
ORPHA:83620 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insens... |
ORPHA:251274 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Dehydratio... |
ORPHA:90791 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldo... |
ORPHA:404 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Abnormal external genitalia, Dehydration, Feeding difficulties, Abnormal... |
ORPHA:556030 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Increased serum lactate, Feeding difficulties in infancy, Chronic kidney disease, Renal tubular a... |
ORPHA:324525 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Dehydration, Nephrocalcinosis, Metabolic acidosis, Vomiting, Distal renal tubular... |
OMIM:602722 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Anorexia, Renal salt wasting, Vomiting, Leydig cell neoplas... |
ORPHA:361 |
Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Diarrhea, Feeding difficulties, Renal tubular acidosis, Transient hyperlip... |
OMIM:255120 |
Hypokalemic Tubulopathy And Deafness |
|
Acidosis, Increased circulating renin level, Hyperaldosteronism, Renal salt wasting |
OMIM:619406 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-insensitive primary h... |
ORPHA:231625 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos... |
OMIM:607364 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Edema, Diarrhea, Angioedema, Neuromuscular dysphag... |
ORPHA:449285 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Abnormal external genitalia, Abnormal circulating corticosterone level, ... |
ORPHA:556037 |
Angioedema, Hereditary, 8 |
|
Edema of the dorsum of hands, Facial edema, Abdominal pain, Diarrhea, Laryngeal edema, Angioedema... |
OMIM:619367 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian ne... |
ORPHA:231632 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypertension, Hyperaldosteroni... |
OMIM:613677 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Diarrhea, Irregular menstruation, Hepatocellular adenoma, Pol... |
ORPHA:79240 |
Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... |
ORPHA:100079 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration, Metabolic acidosis, Hyperaldosteronism, Vomiting, Increased circulating renin level |
OMIM:620126 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular bas... |
OMIM:146255 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting, Adrenocorticotropic hormone excess, Sex reversal, Hyperaldosteronism, Adrenal... |
OMIM:613743 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropa... |
ORPHA:85450 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Hydroxykynureninuria |
|
Tachycardia, Metabolic acidosis, Renal tubular acidosis, Hypotension, Stomatitis |
ORPHA:79155 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... |
OMIM:103900 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Hepatocellular carcinoma, Abdominal d... |
ORPHA:2088 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Abnormal intestine morphology |
OMIM:251850 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia |
OMIM:181180 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Feeding difficulties in infancy, Cryptorchidism... |
ORPHA:3282 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Renal tubular acidosis, Arrhythmia, Transient hyperlipidemia, Hypertrophic ... |
ORPHA:156 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Sex re... |
ORPHA:168558 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100082 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Lactic acidosis, Renal tubu... |
OMIM:530000 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A... |
ORPHA:93111 |
Secondary Intestinal Lymphangiectasia |
|
Edema, Lymphedema, Intestinal bleeding, Vomiting, Hypocholesterolemia, Constrictive pericarditis,... |
ORPHA:90363 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Hypertonic dehyd... |
OMIM:606824 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Polyhydramnios, Increased serum lactate, Renal hypoplasia, Renal cyst, Feedi... |
OMIM:614922 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-... |
ORPHA:231580 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El... |
OMIM:616868 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Hyperlipidemia, Protein-losing enteropathy, Vomiting,... |
OMIM:615863 |
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Renal tubular acidosis, Nephrolithiasis |
OMIM:267300 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
Ileal Neuroendocrine Tumor |
|
Edema, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intestinal obstruction,... |
ORPHA:100078 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack... |
ORPHA:100080 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Anorexia, Metabolic acidosis, Nephrocalcinosis, Distal renal tubular acidosis, Hyper... |
OMIM:611590 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Malabsorption, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular aci... |
ORPHA:47159 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Dehydration, Nephrocalcinosis, Meta... |
ORPHA:2290 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Anorexia, Decreased urinary potassiu... |
ORPHA:85138 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Atypi... |
ORPHA:100075 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Feeding difficulties in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Dehydrati... |
ORPHA:171876 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Vomiting,... |
OMIM:601678 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Pyruvate Carboxylase Deficiency |
|
Increased serum lactate, Lactic acidosis, Proximal renal tubular acidosis |
OMIM:266150 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Metabolic ketoacidosis, Diarrhea, Hyperinsulinemia, Hyperhidrosis, Rena... |
ORPHA:263455 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Pulmonary edema, Abdominal pain, Myocarditis, Diarrhea, Oligur... |
ORPHA:188 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
Attrv30M Amyloidosis |
|
Diarrhea, Atrioventricular block, Cardiomyopathy, Impotence, Constipation, Nephropathy, Arrhythmi... |
ORPHA:85447 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu... |
OMIM:613404 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Vici Syndrome |
|
Feeding difficulties in infancy, Ureteral atresia, Feeding difficulties, Renal tubular acidosis, ... |
ORPHA:1493 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Combined Malonic And Methylmalonic Aciduria |
|
Ketoacidosis, Diarrhea, Methylmalonic aciduria, Dehydration, Vomiting |
OMIM:614265 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Feeding di... |
OMIM:248250 |
Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting, Feeding difficulties in infancy, Dehydration, Vomiting, Increased circulating... |
OMIM:203400 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Cholera |
|
Tachycardia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Acidosis, Diarrhea, De... |
ORPHA:173 |
Bartter Syndrome Type 4 |
|
Hypokalemic metabolic alkalosis, Polyhydramnios, Renal salt wasting, Increased urinary potassium,... |
ORPHA:89938 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Pancreatic fibrosis, Anorexia, Malabsorption, Chronic diarrhea, Hypercalciuria, ... |
OMIM:557000 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosis, Polyuria, E... |
OMIM:613090 |
East Syndrome |
|
Renal salt wasting, Metabolic alkalosis, Renal magnesium wasting, Enuresis, Hyperaldosteronism, I... |
ORPHA:199343 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hypospadias, Increased serum lactate, Lactic acidosis, Renal tubular acidosis, Gastroesophageal r... |
OMIM:615471 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti... |
OMIM:600955 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent... |
OMIM:612780 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Myocardial infarction, Decreased urinary potassium, Renal s... |
ORPHA:95409 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Necrotizing Enterocolitis |
|
Shock, Edema, Increased serum lactate, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrh... |
ORPHA:391673 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrogenic diabetes insipidus, Dehydration, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu... |
OMIM:208085 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Gastritis, Atrial fibrillation, N... |
ORPHA:31826 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Polyhydramnios, Abdominal distention, Diarrhea, Decreased intestinal transit... |
OMIM:620045 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Renal salt wasting, Dehydration, Vomiting, Acidosis, Abdominal pain, Hypov... |
ORPHA:275761 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin... |
ORPHA:388 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Poor appetite, Nausea, Heart block, Diarrhea, Capillary leak, Pleural effusion, Redu... |
ORPHA:542323 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Paralytic ileus, Nephroc... |
OMIM:276700 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Hyperchloremic metabolic acidosis, Vomiting, Dehydration |
OMIM:610370 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Increased serum lactate, Lactic acidosis, Renal tubular dysfuncti... |
OMIM:220110 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Hypokalemic metabolic alkalosis, Polyuria, Polyhydramnios, Renal salt wasting, ... |
OMIM:241200 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... |
OMIM:248360 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Hypokalemic hypochloremic metabolic alkalosis, Renal... |
OMIM:602522 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hyperaldosteronism |
OMIM:605635 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Polyhydramni... |
OMIM:155310 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... |
OMIM:613457 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Bowel incontinence, Conges... |
ORPHA:330001 |
Leigh Syndrome |
|
Increased serum lactate, Ketoacidosis, Gastrointestinal dysmotility, Congestive heart failure, La... |
ORPHA:506 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Lactic acidosis, Renal tubular dysfunction, Aminoaciduria, Renal ... |
ORPHA:436271 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Abdominal pain, Abnormal soft palate morphology... |
ORPHA:100050 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Metabolic alkalosis, Nephrolithiasis, Hypertension, Second degree atrioventricular block, Primary... |
OMIM:615474 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Rabies |
|
Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia |
ORPHA:770 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Poor appetite, Chronic kidney disease, Abnormal urine potassium... |
ORPHA:411634 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Nausea and vomiting, Orthostatic hypotension, Premature ovarian insufficiency... |
ORPHA:199299 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Metrorrhagia, Epistaxis, Gastrointestinal angi... |
ORPHA:99147 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Hyperhidro... |
ORPHA:90068 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Distal renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis |
OMIM:179800 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
Colchicine Poisoning |
|
Renal insufficiency, Abnormality of acid-base homeostasis, Congestive heart failure, Myocarditis,... |
ORPHA:31824 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypokalemic metabolic alkalosis, Sudden cardiac death, Pericardial effusion, Abnormal renal tubul... |
ORPHA:73224 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hypertriglyceridemia, Adrenal calcification, Diarrhea, Esophageal varix, Hyp... |
ORPHA:75234 |
Prolactinoma |
|
Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypoten... |
ORPHA:2965 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Abdominal pain, Diarrhea, Angioedema, Vomiting, Hypotension, Peau d'o... |
ORPHA:79455 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Stress/infection-induced lactic acidosis, Organic aciduria, Pancreatitis |
ORPHA:431361 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... |
ORPHA:97287 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Diarrhea, Oroticaciduria, Dysphagia |
OMIM:616457 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Diarrhea, Feeding difficulties, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Vomiting, S... |
OMIM:612075 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Sepsis In Premature Infants |
|
Tachycardia, Edema, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, ... |
ORPHA:90051 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Deh... |
ORPHA:411629 |
Porphyria, Acute Intermittent |
|
Tachycardia, Dysuria, Urinary incontinence, Abdominal pain, Diarrhea, Paralytic ileus, Hypertensi... |
OMIM:176000 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Feeding difficulties in infancy, Dehydration, Oligosacchariduria, Nephrocalc... |
ORPHA:534 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Abdominal pain, Malnutri... |
OMIM:229600 |
Lujo Hemorrhagic Fever |
|
Facial edema, Periorbital edema, Odynophagia, Fulminant hepatitis, Hyperhidrosis, Vomiting, Nause... |
ORPHA:319213 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Portal hypertension, Malabsorption, Abdominal pain, Diarrh... |
ORPHA:98850 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Edema, Diarrhea, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, V... |
OMIM:602579 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Increased serum lactate, Enuresis, Renal Fanconi syndrome, High p... |
OMIM:619743 |
Leprechaunism |
|
Clitoral hypertrophy, Enlarged ovaries, Overgrowth of external genitalia, Abdominal distention, R... |
ORPHA:508 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Malabsorption, Anorexia, Myocar... |
ORPHA:3452 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig... |
OMIM:219800 |
Galactosemia I |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Diarrhea, Metabolic acidosis, Al... |
OMIM:230400 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... |
ORPHA:251992 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Abdominal pain, Diarrhea, Hematuria, Abnormality of the urinary system, V... |
ORPHA:91547 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Infant Botulism |
|
Cardiac arrest, Anorexia, Abdominal pain, Bowel incontinence, Xerostomia, Hypertension, Constipat... |
ORPHA:178478 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... |
ORPHA:263665 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... |
ORPHA:99828 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Anorexia, Edema, Increased serum lactate, Ketoacidosis, Diarrhea, Dehydration, Metabol... |
ORPHA:134 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni... |
ORPHA:79327 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypotension, Feeding diffic... |
ORPHA:369873 |
Renal Tubular Acidosis Iii |
|
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis |
OMIM:267200 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... |
OMIM:191800 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Serotonin Syndrome |
|
Tachycardia, Diarrhea, Hyperhidrosis, Lactic acidosis, Hypertension, Hypotension, Hepatic failure... |
ORPHA:43116 |
Secretory Component Deficiency |
|
Intermittent diarrhea |
OMIM:269650 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... |
ORPHA:160148 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Hypogonadotropic hypogon... |
ORPHA:298 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Abdominal pain, Diarrhea, Steato... |
ORPHA:2070 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Elevated ci... |
OMIM:618183 |
Gitelman Syndrome |
|
Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Abdominal pain, Renal magnesium wasting, ... |
OMIM:263800 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Abdominal pain, Diarrhea, Hematuria, Arr... |
ORPHA:54057 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp... |
ORPHA:91347 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Edema, Diarrhea, Protein-losing enteropathy, Vo... |
ORPHA:79319 |
Mercury Poisoning |
|
Tachycardia, Anorexia, Episodic abdominal pain, Hypertension, Hypotension, Acute kidney injury, E... |
ORPHA:330021 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Legionnaires Disease |
|
Nausea and vomiting, Renal insufficiency, Pericarditis, Proteinuria, Anorexia, Abdominal pain, My... |
ORPHA:549 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... |
OMIM:246700 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Ketoacidosis, Methylmalonic... |
ORPHA:289504 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Proteinuria, Vaginal neoplasm, Hypoperistalsis, Esophageal neopla... |
ORPHA:1018 |
Glucocorticoid Resistance, Generalized |
|
Metabolic alkalosis, Irregular menstruation, Increased circulating ACTH level, Hypertension, Incr... |
OMIM:615962 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Hypergonadotropic hypogonadism, Poor appetite, Diarrhea, Dilated ... |
ORPHA:352447 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain |
OMIM:191390 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Pedal edema, Nephrocalcinosis, Gastrointestinal inf... |
ORPHA:342 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypotension, Peau ... |
ORPHA:79456 |
Malakoplakia |
|
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,... |
ORPHA:556 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Intestinal... |
ORPHA:2970 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephrotic syndrome, Shawl scrotum |
ORPHA:2575 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypotension, Decreased urinary potassium |
OMIM:611489 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Esophageal atresia, Ventral shortening of for... |
ORPHA:95706 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Metabolic acidosis, Diabetic ketoacidosis, Hypotension, Pancreatitis, Pulmonar... |
ORPHA:70578 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Esophageal spasms, Proteinuria, Myocardial infarction, Pulm... |
ORPHA:447 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Increased serum lactate, D... |
OMIM:620300 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Feeding difficulties, Hematochezia, Metabolic acidosis, Renal tubular acidos... |
OMIM:619575 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... |
ORPHA:31825 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Myoglobinuria, Tachycardia, Mixed respiratory and metabolic acidosis |
OMIM:145600 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Edema, Pulmonary embolism, Malabsorption, Abdominal pain, Diarrhea, Abnor... |
OMIM:226300 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Analbuminemia |
|
Hypercholesterolemia, Oligohydramnios, Hypotension, Edema |
OMIM:616000 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Immunodeficiency 104 |
|
Diarrhea, Gastroesophageal reflux |
OMIM:608971 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... |
ORPHA:276152 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Edema, Abdominal distention, Cryptorchidism, Diarrhea, Protein-losing enteropathy, Vomiting, Decr... |
OMIM:608104 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Glutaric aciduria, Diarrhea, Hypertension, Vomiting, Goiter |
OMIM:231690 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Multicystic kidney dysplasia, Hyd... |
ORPHA:2241 |
Gracile Syndrome |
|
Lactic acidosis, Renal Fanconi syndrome |
ORPHA:53693 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prola... |
ORPHA:90038 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Abdominal pain, Increased serum lactate, Diarrhea, Metabolic acidosis, Vomiting, Pancreatitis |
OMIM:620137 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c... |
ORPHA:913 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Wolman Disease |
|
Nausea and vomiting, Adrenal calcification, Abdominal distention, Malnutrition, Esophageal varix,... |
ORPHA:75233 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ... |
ORPHA:36234 |
Scrub Typhus |
|
Nausea and vomiting, Renal insufficiency, Abdominal pain, Myocarditis, Hyperhidrosis, Hypotension |
ORPHA:83317 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Lymphedema, Diarrhea, Furrowed ton... |
ORPHA:2930 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... |
ORPHA:562 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Bowel incontinence, Pollakisuria, Impotence, Hypertension, Hypotension, Dysphagia, Urinary bladde... |
ORPHA:93256 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Dehydration, Hyperhidrosis, M... |
ORPHA:94093 |
Reticular Dysgenesis |
|
Diarrhea, Aplasia/Hypoplasia of the thymus, Dehydration, Malabsorption |
ORPHA:33355 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Dec... |
OMIM:240300 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... |
ORPHA:97278 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Malabsorption |
OMIM:229050 |
Blue Diaper Syndrome |
|
Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Nephrocalcinosis, Blue ... |
ORPHA:94086 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5... |
OMIM:118450 |
Pituitary Apoplexy |
|
Nausea and vomiting, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula... |
ORPHA:95613 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Intestinal perf... |
OMIM:603041 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Polyhydramnios, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea |
OMIM:619971 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Nephrogenic diabetes insipi... |
ORPHA:213 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Ambiguous genitalia, Micropenis, Decrease... |
OMIM:300215 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Pericardial effusion, Shortened PR interval, Cardiomyopathy, Bradycardia, ... |
OMIM:261740 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Abnormality of the ureter, Multiple ga... |
OMIM:175200 |
Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
Osteopetrosis With Renal Tubular Acidosis |
|
Proximal renal tubular acidosis, Nephrolithiasis, Metabolic acidosis, Renal tubular acidosis, Pul... |
ORPHA:2785 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ketonuria, Cardiac arrest, Anorexia, Edema, Increased serum lactate, Reye syn... |
ORPHA:20 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Projectile vomiting, Anorexia, Hypotension |
ORPHA:33475 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Internal hemorr... |
ORPHA:99827 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... |
OMIM:601419 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Di... |
OMIM:615710 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... |
ORPHA:2704 |
Renal Tubular Dysgenesis |
|
Anuria, Abnormality of the urinary system, Hypotension, Renotubular dysgenesis, Oligohydramnios |
OMIM:267430 |
Acute Intermittent Porphyria |
|
Dark urine, Nausea and vomiting, Renal insufficiency, Tachycardia, Urinary incontinence, Dysuria,... |
ORPHA:79276 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Metabolic alkalosis, Precocious puberty, I... |
ORPHA:786 |
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 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis, Cardiomyopathy, As... |
OMIM:232500 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Constipation, Urinary incontinence, Dysphagia |
ORPHA:309162 |
American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Edema, Myocarditis, C... |
ORPHA:3386 |
Hellp Syndrome |
|
Pulmonary edema, Proteinuria, Cerebral hemorrhage, Nausea, Abdominal pain, Hemoglobinuria, Vomiti... |
ORPHA:244242 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysph... |
ORPHA:1267 |
Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Marburg Hemorrhagic Fever |
|
Anorexia, Odynophagia, Dehydration, Bloody diarrhea, Lactic acidosis, Vomiting, Nausea, Internal ... |
ORPHA:99826 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e... |
ORPHA:652 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Lactic acidosis, Cardiomyopathy, Feeding difficulties, Hypertrophic cardiomyopathy |
OMIM:615119 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Hypohidrosis, Ambiguou... |
ORPHA:452 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Polyhydramnios, Abdominal distention, Secretory dia... |
OMIM:270420 |
Nipah Virus Disease |
|
Nausea and vomiting, Hypotension, Anorexia |
ORPHA:99825 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Nausea and vomiti... |
ORPHA:727 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... |
OMIM:263200 |
Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... |
ORPHA:97283 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Diarrhea, Amenorrhea, Malabsorption |
OMIM:600705 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Multiple Endocrine Neoplasia Type 2 |
|
Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromato... |
ORPHA:653 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysph... |
ORPHA:228371 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Hypertrophic cardiomyopathy, Feeding difficulties |
OMIM:620270 |
Lassa Fever |
|
Shock, Nausea and vomiting, Menometrorrhagia, Abdominal pain, Facial edema, Diarrhea, Oliguria, D... |
ORPHA:99824 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac... |
OMIM:309000 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Proteinuria, Edema, A... |
ORPHA:93552 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Episodic hyperhidrosis, Di... |
OMIM:223900 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Abdominal pain, Diarrhea,... |
ORPHA:79101 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Vipoma |
|
Anorexia, Poor appetite, Secretory diarrhea, Dehydration, Benign gastrointestinal tract tumors, F... |
ORPHA:97282 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Hyperhidrosis, Constipation, Gastroesophageal reflux, ... |
OMIM:608643 |
Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Edema, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infa... |
ORPHA:544482 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Nausea, Abdominal pain, Abdominal distention, Diarrhea, Increas... |
ORPHA:100924 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis... |
ORPHA:261222 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature... |
OMIM:212138 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Hypokalemic metabolic alkalosis, Renal insufficiency, Dyspareunia, A... |
ORPHA:36426 |
Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Lact... |
ORPHA:550 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... |
ORPHA:35710 |
Familial Mediterranean Fever |
|
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Stage 5 chronic kidney disease, Ep... |
OMIM:249100 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Lactic acidosis, Inflammation of the large intestine, Hypothyroidism, Tubuloint... |
ORPHA:79259 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Diabetes insipidus, Nocturia |
ORPHA:178029 |
Tako-Tsubo Cardiomyopathy |
|
Vomiting, Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia,... |
ORPHA:66529 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Abdominal pain, Polyhydramnios, Encopre... |
ORPHA:589821 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Chromosome 5Q12 Deletion Syndrome |
|
Macroglossia, Increased nuchal translucency, Hypotension |
OMIM:615668 |
Glycogen Storage Disease Ia |
|
Proteinuria, Pancreatitis, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Focal segmental glom... |
OMIM:232200 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplas... |
OMIM:617053 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Pde4D Haploinsufficiency Syndrome |
|
Cryptorchidism, Elevated circulating parathyroid hormone level, Hypospadias, Hypotension |
ORPHA:439822 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure... |
OMIM:619431 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation, Hyperhidrosis |
OMIM:615548 |
Poliomyelitis |
|
Anorexia, Paralytic ileus, Hypertension, Hypovolemic shock, Vomiting, Hypotension, Dysphagia, Nausea |
ORPHA:2912 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Carcinoid Syndrome |
|
Nausea and vomiting, Tricuspid regurgitation, Right ventricular failure, Lack of bowel sounds, He... |
ORPHA:100093 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor... |
ORPHA:97280 |
Alexander Disease |
|
Nausea and vomiting, Diabetes mellitus, Sudden cardiac death, Bowel incontinence, Precocious pube... |
ORPHA:58 |
Lead Poisoning |
|
Decreased female libido, Anorexia, Abnormality of the menstrual cycle, Abdominal pain, Abdominal ... |
ORPHA:330015 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypotension, Arrhythmia... |
ORPHA:159 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Congestive heart failure, Gastrointestinal dysmotility, D... |
ORPHA:67 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Mccune-Albright Syndrome |
|
Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c... |
OMIM:174800 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Pe... |
OMIM:212065 |
Currarino Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m... |
ORPHA:1552 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chronic diarrhea,... |
OMIM:619858 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis |
OMIM:614602 |
Yao Syndrome |
|
Pericarditis, Abdominal pain, Diarrhea, Xerostomia, Nephrolithiasis |
OMIM:617321 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Polyhydramnios, R... |
OMIM:243150 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Esophageal varix, Increased level of L-fucose in urine... |
OMIM:215600 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Elevated urinary epine... |
OMIM:162300 |
Cog7-Cdg |
|
Diarrhea, Abnormality of the kidney, Feeding difficulties |
ORPHA:79333 |
Shigellosis |
|
Anorexia, Abdominal pain, Intestinal perforation, Hemolytic-uremic syndrome, Myocarditis, Urethri... |
ORPHA:810 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... |
ORPHA:199296 |
Pure Autonomic Failure |
|
Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Impotence, Syncope, Constipat... |
ORPHA:441 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Esophageal atresia, Crypto... |
ORPHA:3157 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercal... |
ORPHA:18 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... |
OMIM:300200 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Peptic ulcer, Abdominal pain, Diarrhea, Syncope, Hypotension, Nausea |
ORPHA:98849 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Nausea, Diarrhea, Alkalosis, Intracranial hemorrhage, Vomitin... |
ORPHA:90062 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Methimazole Embryofetopathy |
|
Hypospadias, Polyhydramnios, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophag... |
ORPHA:1923 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hypertriglyceridemia, Adrenal calcification, Portal hypertension, Diarrhea... |
OMIM:278000 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Diarrhea, Elevated urinary dopamine level, Hyperinsulinemi... |
ORPHA:230 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Hyperhidrosis, Constipation, Palpitations |
OMIM:133020 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema |
ORPHA:70587 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction |
ORPHA:1380 |
Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A... |
ORPHA:99745 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno... |
ORPHA:79644 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, H... |
ORPHA:71 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon, Unilateral renal agenesis |
OMIM:235740 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Diarrhea, Dehydration, Proximal tubulopathy, Vomiting, Type I diabetes mellitus |
OMIM:560000 |
Inhalational Anthrax |
|
Vomiting, Internal hemorrhage, Hypotension, Abnormal sweat gland morphology |
ORPHA:247257 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Sinus tachycardia, Nausea, Hepatic failure, Oliguria, Lactic a... |
ORPHA:466650 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Dietary Iron Overload Disease |
|
Diabetes mellitus, Congestive heart failure, Peritonitis, Esophageal carcinoma, Abnormal pancreas... |
ORPHA:139507 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis |
OMIM:617638 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Diarrhea |
OMIM:250900 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix, Portal hypertension |
OMIM:617068 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Conjunctival telangiectasia, Transient ischemi... |
ORPHA:774 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Rena... |
ORPHA:85284 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,... |
OMIM:106100 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Epis... |
ORPHA:469 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Secretory diarrhea, Dehydration, Hypertension, Vomiting |
OMIM:616069 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Chronic diarrhea, Esophageal varix, Hypohidrosis, Inflammation of the ... |
OMIM:614576 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Congenital Enterovirus Infection |
|
Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy... |
ORPHA:292 |
Ethylmalonic Encephalopathy |
|
Lactic acidosis, Diarrhea, Ethylmalonic aciduria |
ORPHA:51188 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az... |
ORPHA:48 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Esophageal varix, Renal hypoplasia, Portal hypertension |
OMIM:616589 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Renal agenesis, Aganglionic megacolon |
ORPHA:2155 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis |
OMIM:619164 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation |
ORPHA:254504 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure, Hypocholesterolemia |
OMIM:607765 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart fail... |
ORPHA:49827 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney d... |
OMIM:173900 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Inflammation of the large intestine, Gastritis, Diarrhea |
OMIM:618108 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secretory diarrhea... |
OMIM:616050 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Noonan Syndrome 7 |
|
Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Hyperhidrosis, Pulmonic ste... |
OMIM:613706 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Pleural empyema, Hypotension, Increased circulating procalcitonin conce... |
ORPHA:36238 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anorexia, Abdominal pain, Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria,... |
ORPHA:91500 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Bidirection... |
OMIM:619351 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Nausea, Abdominal p... |
ORPHA:71273 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Anorexia, Malabsorption, Periorbital... |
ORPHA:33226 |
Acute Radiation Syndrome |
|
Diarrhea, Vomiting, Hypotension, Telangiectasia |
ORPHA:454831 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c... |
ORPHA:65682 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Dicarboxylic aciduria, Increased circulating free f... |
ORPHA:71212 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea, Ascites, Bile duct proliferation, Malabsorption |
OMIM:602347 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Congestive heart failure, Diarrhea, Dehydration, Cardiomyopathy, Mitral re... |
OMIM:212140 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Bowel incontinen... |
ORPHA:93930 |
Isolated Agammaglobulinemia |
|
Diarrhea, Malabsorption |
ORPHA:229717 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Pericardia... |
ORPHA:36412 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Esophag... |
ORPHA:84081 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Constipation, Dysphagia, ... |
OMIM:226600 |
Scorpion Envenomation |
|
Bundle branch block, Respiratory alkalosis, Edema, Hyperhidrosis, Vomiting, Prominent U wave, Pri... |
ORPHA:466677 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Chronic diarrhea, Dilated cardiomyopathy, Lactic acidosis, Pancreatitis |
OMIM:618805 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Fat malabsorption, Epistaxis, Diarrhea |
OMIM:211600 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction,... |
ORPHA:1333 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Hyperhidros... |
ORPHA:1332 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of ... |
ORPHA:97289 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Arrhythmia, Diarrhea, Hyperhidrosis |
ORPHA:29822 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Abdominal pain, Diarrhea, Elevated urinary dopamine level, ... |
OMIM:256700 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... |
ORPHA:95512 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Abdominal pain, High palate, Vomiting, Hypotension, Arrhythmia |
ORPHA:2135 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemic alkalosis, Proximal tubulopathy, Vomiting, Increased circulating renin level, Nausea |
OMIM:241150 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Edema, Diarrhea, Hematuria, Intracranial hemorrhage, Meno... |
ORPHA:324636 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Polyhydramnios, Esophageal atresia, Congenital pyloric atresia, Urethrovesical occlusion, Intract... |
OMIM:226730 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abdominal pain, High, narrow palate, Rectal prolapse, Adenomatous co... |
ORPHA:79076 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula |
OMIM:601110 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito... |
ORPHA:343 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, High palate, Am... |
ORPHA:1772 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure... |
ORPHA:525731 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Abnormal testis morphology, Abnormality of the kidney, Abdominal pain |
ORPHA:54251 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo... |
OMIM:263400 |
Autosomal Agammaglobulinemia |
|
Diarrhea, High palate, Dehydration, Malabsorption |
ORPHA:33110 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon |
OMIM:613711 |
Zygomycosis |
|
Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Nephritis, Nausea, Abdo... |
ORPHA:73263 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... |
ORPHA:95513 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Portal hypertension, Esophageal varix, Hepatocellular carcinoma, Ascites |
OMIM:619463 |
Autosomal Dominant Hypocalcemia |
|
Abdominal pain, Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, Arrhythm... |
ORPHA:428 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Malabsorption, Abdominal distention, Ch... |
OMIM:227810 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Esophageal stricture, Dilated cardiomyopathy, Malnutrition, Fe... |
ORPHA:89842 |
Encephalopathy, Ethylmalonic |
|
Lactic acidosis, Chronic diarrhea, Ethylmalonic aciduria, Feeding difficulties |
OMIM:602473 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Nausea and vomiting, Malabsorption, Increased serum lactate, Feeding difficulties, Lactic acidosi... |
OMIM:616539 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Polyhydramnios, Abdominal distention, Microcolon, Megacystis, Fetal megacystis, Hydr... |
OMIM:619362 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Cystic Fibrosis |
|
Male infertility, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hypercalciuria, Dehydration, ... |
OMIM:219700 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Diarrhea, Hepatocellular carcinoma |
OMIM:601847 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Vomiting, Infertilit... |
OMIM:212750 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, R... |
ORPHA:2973 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Renal insufficiency, Membranoproliferative glomerulonephritis, Edema, Hemo... |
OMIM:619644 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Lymphedema,... |
ORPHA:2176 |
Boutonneuse Fever |
|
Renal insufficiency, Abdominal pain, Diarrhea, Vasculitis, Nausea |
ORPHA:83313 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Coach Syndrome 1 |
|
Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Esophageal ... |
OMIM:216360 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem... |
ORPHA:464321 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis |
OMIM:613960 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Diarrhea, Hyperlipidemia, Hypertension, Acute kidney injury |
OMIM:235400 |
Immunodeficiency 48 |
|
Diarrhea |
OMIM:269840 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Abdom... |
OMIM:619377 |
Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis |
OMIM:259730 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Ant... |
OMIM:608836 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, High palate, Hypothyroidism, Nasogastric tube feeding |
OMIM:607906 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Diarrhea, Vomiting, Decreased live... |
ORPHA:42 |
Leptospirosis |
|
Nausea and vomiting, Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinar... |
ORPHA:509 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Episodic abdom... |
ORPHA:100085 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Hepatic failure, Steatorrhea |
OMIM:235555 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Diabetes insipidus |
ORPHA:30925 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Edema, Diarrhea, Hydrops fetalis, Feeding difficulties... |
ORPHA:79325 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Citrullinemia Type Ii |
|
Hypertriglyceridemia, Diarrhea, Hyperlipidemia, Enuresis, Vomiting, Hepatocellular carcinoma, Hyp... |
ORPHA:247585 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Plague |
|
Tachycardia, Anorexia, Abdominal pain, Hematemesis, Edema, Diarrhea, Enterocolitis, Bloody diarrh... |
ORPHA:707 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Recurrent urinary tract infections, Anorexia, Diarrhea, Gastroesophageal ref... |
ORPHA:90045 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Diarrhea, Cardiomyopathy, Impotence, Constipation, Episodic vomiting, Ortho... |
OMIM:105210 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Xerostomia, Urinary retention, Constipation, Dysphagia |
ORPHA:254509 |
Dracunculiasis |
|
Nausea and vomiting, Diarrhea |
ORPHA:231 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Chronic diarrhea, Ileus, Type I diabetes mellitus, Hypothyro... |
OMIM:304790 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Chronic diarrhea, Dilated cardiomyopathy, Arrhythmia, Nausea |
OMIM:615084 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Recurrent urinary tract infections, Malabsorption, Protracted diarrhea, Colitis |
OMIM:209920 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Abnormality of the endocrine system, Congestive heart failure, Diarrhea, Esophag... |
ORPHA:391487 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea, Polyhydramnios |
OMIM:266250 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Increased urinary glycerol, Reye syndrome-like episodes, Diarrhea, Lactic acidosis, ... |
ORPHA:348 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Inflammation of the large intestine, Colitis |
OMIM:619281 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Thyroiditis, Inf... |
ORPHA:436159 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Melena,... |
ORPHA:319218 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Congestive heart failure, Dilated... |
ORPHA:367 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Feeding difficulties in infancy, Chronic diarrhea, Pedal edema, Hypohidrosis, Infl... |
ORPHA:98813 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,... |
OMIM:615895 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia, Renal hypopl... |
ORPHA:2538 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,... |
ORPHA:91355 |
Yellow Fever |
|
Shock, Renal insufficiency, Anuria, Acute pancreatitis, Supraventricular arrhythmia, Nausea, Hema... |
ORPHA:99829 |
Sandhoff Disease |
|
Orthostatic hypotension, Urinary incontinence, Chronic diarrhea, Episodic abdominal pain, Hyperhi... |
OMIM:268800 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Cerebral ischemia, Vo... |
ORPHA:927 |
Mucopolysaccharidosis, Type Iiic |
|
Heparan sulfate excretion in urine, Diarrhea, Asymmetric septal hypertrophy, Dysphagia |
OMIM:252930 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Diarrhea, Lymphedema |
ORPHA:33276 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Esophageal stricture, Gastrointestinal inflammation, Abnormality of the urina... |
ORPHA:79409 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria, Diarrhea, Abdominal pain |
OMIM:615399 |
Bronchogenic Cyst |
|
Abdominal pain, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease |
OMIM:616100 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Diarrhea, Xerostomia, Constipation, Hypothyroidism |
ORPHA:36397 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Nausea and vomiting, Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacol... |
ORPHA:847 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Tracheoesophageal fistula, ... |
ORPHA:59315 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Macroglossia, Glossitis |
ORPHA:2221 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Diarrhea, Malnutrition, Hypocholesterolemia, Type I diabetes mellitus, Fat ma... |
ORPHA:96180 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula |
ORPHA:77298 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Abdominal pain, Diarrhea, Enterocolitis... |
OMIM:619802 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Diarrhea, Malabsorption, Protruding tongue |
OMIM:242860 |
Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Heparan sulfate excretion in urine, Congestive heart failure, Diar... |
OMIM:309900 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Polyhydramnios, Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophag... |
OMIM:619859 |
Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
Congenital Toxoplasmosis |
|
Diarrhea, Ascites |
ORPHA:858 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Abdominal pain, Esophageal web, Dysphagia, Glossitis |
ORPHA:54028 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Pericarditis, Abdominal pain, Orchitis, Periorbital edema, Diarrhea, Vasc... |
ORPHA:32960 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Edema, Cryptorchidism, Transverse vaginal septum, Hydrometroc... |
OMIM:236700 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Polyhyd... |
ORPHA:2059 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Refractory Celiac Disease |
|
Villous atrophy, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Protein-losing en... |
ORPHA:398063 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hematochezia, Acholic stools, Bile duct proliferation, Steatorrhea, Hepatic failure |
OMIM:613812 |
Pearson Syndrome |
|
Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Hydrops f... |
ORPHA:699 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Abnormal urinary color, Diarrhea |
ORPHA:56425 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Chronic diarrhea, Enlarged kidney |
OMIM:615285 |
Hardikar Syndrome |
|
Vomiting, Vesicoureteral reflux, Bladder exstrophy, Cleft soft palate, Portal hypertension, Abdom... |
OMIM:301068 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Enterokinase Deficiency |
|
Diarrhea, Hypoproteinemic edema |
OMIM:226200 |
Autosomal Recessive Polycystic Kidney Disease |
|
Biliary hyperplasia, Protein-losing enteropathy, Hepatoblastoma, Portal hypertension, Oliguria, R... |
ORPHA:731 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Ileus, Hypohidrosis, Hypogonadism, Constipation, Arrhythmi... |
ORPHA:163746 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericardial effusion, Ch... |
ORPHA:90362 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Abnormal urinary color, Diarrhea, Hemoglobinuria |
ORPHA:90035 |
Fanconi Anemia, Complementation Group B |
|
Renal agenesis, Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, Hy... |
OMIM:300514 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Gastritis, Malabsorption, Abnormality of the endocrine system, Ileus, Secretory ... |
ORPHA:37042 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Chronic diarrhea |
OMIM:614699 |
Cog4-Cdg |
|
Fatal liver failure in infancy, Hypercholesterolemia, Feeding difficulties, Intermittent diarrhea... |
ORPHA:263501 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Periorbital edema, Chronic diarrhea, Chronic constip... |
OMIM:142680 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Tricuspid steno... |
ORPHA:391641 |
Diarrhea 13 |
|
Secretory diarrhea, Vomiting |
OMIM:620357 |
Deeah Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Malabsorpti... |
OMIM:619004 |
Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon, Diarrhea |
OMIM:609313 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Pancreatitis, Nausea and vomiting |
ORPHA:289916 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Pituitary adenoma, Adenomatous colonic polyposis, Diarrhea,... |
ORPHA:99818 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, Inflammation... |
OMIM:301074 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Hypohidrosis, Adrenal insuffi... |
OMIM:615510 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis |
OMIM:618394 |
Caroli Disease |
|
Cholangiocarcinoma, Portal hypertension, Anorexia, Abdominal pain, Esophageal varix, Abdominal ri... |
ORPHA:53035 |
Chronic Graft Versus Host Disease |
|
Anorexia, Phimosis, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea,... |
ORPHA:99921 |
Aspergillosis |
|
Intracranial hemorrhage, Pleural effusion, Abnormality of the kidney, Abnormal esophagus morphology |
ORPHA:1163 |
Wilson Disease |
|
Hypoparathyroidism, Acute hepatic failure, Hyperphosphaturia, Proteinuria, Edema, Hepatocellular ... |
OMIM:277900 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Aplasia of the thymus, Malabsorption, Hypothyroidism, Diarrhe... |
ORPHA:83471 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Gastric varix, Hepatocellular... |
ORPHA:64743 |
Immunodeficiency 40 |
|
Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Rectal fistula |
OMIM:616433 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Diarrhea, Asymmetric septal hypertrophy |
OMIM:252920 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Abdominal distention, Gastrointes... |
ORPHA:436252 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Edema, Hematemesis, Pericardial effusion, Diarrhea, Vasculitis, Bloody diarrh... |
OMIM:615846 |
Lysinuric Protein Intolerance |
|
Increased serum lactate, Protein avoidance, Diarrhea, Malnutrition, Pancreatitis, Stage 5 chronic... |
OMIM:222700 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, High palate |
OMIM:614069 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding dif... |
OMIM:613489 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Increased serum lactate, Chronic diarrhea, Feeding difficulties, Lactic acidosis, Dysphagia, Orot... |
OMIM:620358 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Prolonged Q... |
ORPHA:273 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Hypertriglyceridemia, Dilated car... |
OMIM:619573 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Annular pancreas, Tracheoesoph... |
ORPHA:210122 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constipation, Hypogona... |
ORPHA:500055 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Vomiting, Tube feeding |
OMIM:619510 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Abnormal circulating insulin concentration, Dehydration, Rena... |
ORPHA:69076 |
Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Diarrhea, Asymmetric septal hypertrophy |
OMIM:252900 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Diarrhea, Hypohidrosis, Hypertension, Male hypo... |
ORPHA:90321 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Micropenis, Chronic diarrhea, Panhypopituitarism, Decreased testicular size |
OMIM:300953 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl... |
OMIM:201750 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Anhidrosis, Diarrhea, Constipation, Urinary incontinence |
OMIM:608654 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Cardiac conduction abnormality, Oral-pharyngeal dyspha... |
ORPHA:2131 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Vomitin... |
OMIM:231680 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea |
OMIM:228600 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Enlarged kidney,... |
OMIM:314390 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent urinary tract infections, Diarrhea |
OMIM:618495 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea |
OMIM:613501 |
Microsporidiosis |
|
Glossitis, Anorexia, Abdominal pain, Myocarditis, Abnormality of the parathyroid gland, Urethriti... |
ORPHA:2552 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Pulmonary arterial h... |
ORPHA:231222 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Pulmonary insufficiency |
ORPHA:277 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Diarrhea, Dilated ca... |
ORPHA:231226 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Chronic diarrhea, Colitis, Hypohidrosis |
OMIM:301220 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Poor appetite, Diarrhea, Hypogonadism, Decreased serum testosterone concentration, Decreased test... |
OMIM:201100 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Abdominal distention, Megacystis, Cleft ... |
ORPHA:2604 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Diarrhea, Hypoplasia of th... |
OMIM:619313 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Chronic diarrhea, Nephrotic syndrome, Colitis, Stomatitis, Recurrent infection of the gastrointes... |
ORPHA:911 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Abdominal pain, Non-acidotic proximal tubulo... |
ORPHA:1652 |
Dpm1-Cdg |
|
High, narrow palate, Diarrhea, External genital hypoplasia, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
Avian Influenza |
|
Abdominal pain, Congestive heart failure, Diarrhea, Vomiting, Pleural effusion, Acute kidney injury |
ORPHA:454836 |
Arima Syndrome |
|
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:243910 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Oral leukoplakia |
OMIM:613989 |
Good Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Diarrhea, Thymoma, Dysphagia, Aplasia/Hypo... |
ORPHA:169105 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Portal hypertension, Diarrhea, Urinary retention, Recurrent gastroenteritis, Inappropriate antidi... |
ORPHA:79124 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Increased serum lactate, Diarrhea, Dilated cardiomyopathy, Vomiting, Episodic vomiti... |
OMIM:618321 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic ... |
ORPHA:309031 |
Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Hypospadias, Diabetes mellitus, Chordee, Aortic valve stenosis, ... |
OMIM:176690 |
Bloom Syndrome |
|
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Diabetes m... |
ORPHA:125 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Reactive Arthritis |
|
Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Abdominal pain, Diarrhea,... |
ORPHA:29207 |
B4Galt1-Cdg |
|
Diarrhea, Hypothyroidism, Edema |
ORPHA:79332 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Esophageal stenosis, Telangiectasia of the skin, Diabetes mellitus, Abn... |
ORPHA:1775 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Increased nuchal translucency, Functional abnormality of the gastrointe... |
ORPHA:357001 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Decreased serum insulin-like growth factor 1, Sudden cardiac death, Dilated cardiomy... |
OMIM:614921 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Villous atrophy, Tricuspid regurgitation, Ureteral hypoplasia, Pericar... |
ORPHA:79328 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Macroglossia, Chronic diarrhea |
OMIM:618523 |
Biotinidase Deficiency |
|
Metabolic ketoacidosis, Feeding difficulties in infancy, Diarrhea, Organic aciduria, Vomiting |
OMIM:253260 |
Caroli Syndrome |
|
Cholangiocarcinoma, Abnormality of the kidney, Portal hypertension, Abdominal pain, Hematemesis, ... |
ORPHA:480520 |
Omenn Syndrome |
|
Edema, Chronic diarrhea, Thyroiditis, Nephrotic syndrome, Hypothyroidism |
ORPHA:39041 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Phimosis, Urethral stenosis, Dysp... |
OMIM:173650 |
Immunodeficiency 31C |
|
Villous atrophy, Diabetes mellitus, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enter... |
OMIM:614162 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Complement Component 4B Deficiency |
|
Chronic diarrhea |
OMIM:614379 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Diarrh... |
OMIM:307200 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Hypertrophic cardiomyopathy, Diarrhea |
ORPHA:1842 |
Vacterl With Hydrocephalus |
|
Renal agenesis, Polyhydramnios, Renal hypoplasia/aplasia, Esophageal atresia, Cryptorchidism, Tra... |
ORPHA:3412 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Aganglionic megacolon, Hyperhidrosis |
ORPHA:2151 |
Immunodeficiency 69 |
|
Diarrhea |
OMIM:618963 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria |
ORPHA:2239 |
Immunodeficiency, Common Variable, 2 |
|
Diarrhea |
OMIM:240500 |
Young-Onset Parkinson Disease |
|
Gastroparesis, Diarrhea, Male sexual dysfunction, Constipation, Female sexual dysfunction, Nausea |
ORPHA:2828 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom... |
ORPHA:486 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Diarrhea, Dilated ca... |
ORPHA:231214 |
Immunodeficiency 17 |
|
Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroenteritis |
OMIM:615607 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Diarrhea |
OMIM:601457 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Protei... |
OMIM:619991 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea |
OMIM:619446 |
Graft Versus Host Disease |
|
Tachycardia, Abdominal pain, Diarrhea, Gastrointestinal inflammation, Vomiting, Recurrent gastroe... |
ORPHA:39812 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, High palate, Bifid uvula |
OMIM:618779 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal... |
OMIM:229850 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Chronic diarrhea, Malabsorption |
ORPHA:47 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Bile duct proliferation, Esophageal varix, Portal hypertension |
OMIM:619662 |
Congenital Myopathy 20 |
|
Chronic diarrhea, High palate |
OMIM:620310 |
Immunodeficiency 19 |
|
Chronic diarrhea |
OMIM:615617 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Edema, Renal cyst, Gastrointestinal inflammation, Dehydration, Aplasia/Hypopl... |
ORPHA:79404 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Trach... |
OMIM:619227 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea |
OMIM:612692 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Esophageal stricture, Dysphagia |
OMIM:616029 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Recurrent urinary tract infections, Premature ovarian... |
OMIM:251260 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Proteinuria, Edema, Abdominal pain, Congestive heart failure, ... |
ORPHA:2331 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Chronic diarrhea, Telangiectasia, Hypogonadism |
OMIM:601675 |
Syndromic Diarrhea |
|
Aortic regurgitation, Villous atrophy, Gastritis, Renal hypoplasia, Bloody diarrhea, Colitis, Hyp... |
ORPHA:84064 |
Sapho Syndrome |
|
Edema, Malabsorption, Abdominal pain, Vasculitis, Chronic diarrhea, Inflammation of the large int... |
ORPHA:793 |
Rothmund-Thomson Syndrome Type 1 |
|
Premature ovarian insufficiency, Facial edema, Cryptorchidism, Diarrhea, Functional abnormality o... |
ORPHA:221008 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Ketonuria, Increased urinary glycerol, Hypertriglyceridemia, Poor ap... |
ORPHA:247598 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Portal hypertension, Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, ... |
OMIM:613385 |
Wiskott-Aldrich Syndrome |
|
Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, Large vessel vasculitis, ... |
OMIM:301000 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Thyroiditis, Inflammation of the large int... |
OMIM:614700 |
Shwachman-Diamond Syndrome 2 |
|
Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617941 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Diarrhea, Lactic acidos... |
OMIM:256810 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Diarrhea |
ORPHA:411703 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Anal stenosis, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, S... |
ORPHA:235 |
Immunodeficiency 27A |
|
Diarrhea, Anorexia |
OMIM:209950 |
Wiskott-Aldrich Syndrome |
|
Glomerulopathy, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Abnormality... |
ORPHA:906 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Dysuria, Chronic diarrhea, Colitis, Recurrent aphthous stomatitis,... |
OMIM:618131 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Pulmonary arterial hypertensi... |
ORPHA:974 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Small scrotum, Intestinal malrotation, Portal hypertension, E... |
OMIM:613658 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Eso... |
OMIM:227646 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp... |
OMIM:614083 |
Cerebrotendinous Xanthomatosis |
|
Angina pectoris, Myocardial infarction, Diarrhea, Xanthelasma, Pseudobulbar paralysis, Cholelithi... |
OMIM:213700 |
Mucopolysaccharidosis, Type Iiid |
|
Heparan sulfate excretion in urine, Diarrhea, Asymmetric septal hypertrophy, Macroglossia, Mitral... |
OMIM:252940 |
Severe Combined Immunodeficiency, X-Linked |
|
Chronic diarrhea, Hypoplasia of the thymus |
OMIM:300400 |
Acrodermatitis Enteropathica |
|
Poor appetite, Malabsorption, Anorexia, Chronic diarrhea, Furrowed tongue, Glossitis |
ORPHA:37 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia |
OMIM:610768 |
Immunodeficiency, Common Variable, 1 |
|
Diarrhea |
OMIM:607594 |
Immunodeficiency 46 |
|
Chronic diarrhea |
OMIM:616740 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Vaginal dryness, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Intesti... |
ORPHA:95455 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... |
OMIM:619381 |
Immunodeficiency 59 And Hypoglycemia |
|
Malabsorption, Chronic diarrhea, High palate, Arteritis, Recurrent aphthous stomatitis |
OMIM:233600 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Portal hypertension, Abdominal pain, Raynaud phenomenon, Dilated cardiomyo... |
OMIM:615688 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Abdominal pain, Diarrhea, Chronic diarrhea, Vasculitis, Joint swelling |
OMIM:617099 |
Mucoepithelial Dysplasia, Hereditary |
|
Chronic diarrhea, Furrowed tongue, Melena, Hematuria, Corneal neovascularization |
OMIM:158310 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Abnormality of the male genitalia, Cholelithiasis, Hepatic failure, Po... |
OMIM:614886 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Vasculitis |
OMIM:601979 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased heart rate variability, Cryptorchidism, Chronic diarrhea, Chronic constipation, High pa... |
OMIM:619005 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent aphthous stomatitis |
OMIM:150550 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Neuroendocrine neoplasm, Carcinoid tumor |
ORPHA:100084 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Villous atrophy, Hypospadias, Polyhydramnios, Galactosuria, Pulmonic stenos... |
OMIM:222470 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Hypercholesterolemia, Polyuria, Diarrhea, Feeding ... |
OMIM:606721 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Diarrhea, Anorexia, Protracted diarrhea |
ORPHA:169160 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Thyroiditis, Type I diabetes mellitus, Hypothyroidism |
OMIM:606367 |
Immunodeficiency 15B |
|
Chronic diarrhea |
OMIM:615592 |
Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Malabsorption, Raynau... |
ORPHA:3260 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea, Portal hypertension |
OMIM:619849 |
Ogden Syndrome |
|
Maternal diabetes, Lymphedema, Ventricular tachycardia, High palate, Vomiting, Supraventricular t... |
OMIM:300855 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Esophageal stenosis, Oral leukoplakia |
OMIM:616553 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Telangiectasia |
ORPHA:158673 |
Immunodeficiency 22 |
|
Pericarditis, Diarrhea, Protracted diarrhea, Capillary leak, Ascites |
OMIM:615758 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Periodic Fever, Menstrual Cycle-Dependent |
|
Increased circulating cortisol level |
OMIM:614674 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Constipation |
OMIM:250250 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... |
OMIM:617718 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Anal fissure, Glomerulonephritis, Chronic kidney disease... |
ORPHA:79408 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Diarrhea, Recurrent infection of the gastrointestinal tract, Protracted diarrhea |
ORPHA:572 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Apert Syndrome |
|
Feeding difficulties in infancy, Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplas... |
ORPHA:87 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Caspase 8 Deficiency |
|
Chronic diarrhea |
OMIM:607271 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Palpebral edema, Unilateral renal agenesis, Diarrhea, Gastroe... |
ORPHA:221139 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Hypospadias, Nonimmune hydrops fetalis, Esophageal atresia, Dilatation of the bla... |
OMIM:265380 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne... |
ORPHA:96149 |
Dubowitz Syndrome |
|
Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insufficiency, Submu... |
OMIM:223370 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor... |
ORPHA:99819 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E... |
OMIM:227650 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... |
ORPHA:249 |
Mevalonic Aciduria |
|
Diarrhea, Vomiting, Elevated urine mevalonic acid level, Edema |
OMIM:610377 |
Immunodeficiency 56 |
|
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic failure |
OMIM:615207 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Hyperhidrosis, Secretory diarrhea, Elevated urinary prostaglandin E2 level |
OMIM:167100 |
Transcobalamin Ii Deficiency |
|
Diarrhea, Vomiting, Methylmalonic aciduria |
OMIM:275350 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Hypercalciuria, Renal p... |
OMIM:241530 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor... |
ORPHA:424 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Esophageal varix, Pulmonic stenosis |
OMIM:616028 |
African Trypanosomiasis |
|
Abnormal EKG, Renal insufficiency, Pericarditis, Urinary incontinence, Abnormality of the menstru... |
ORPHA:3385 |
Hyper-Igd Syndrome |
|
Abdominal pain, Diarrhea, Chronic diarrhea, Vomiting, Renal angiomyolipoma, Elevated urine mevalo... |
OMIM:260920 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomitin... |
OMIM:620233 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea |
OMIM:618050 |
Immunodeficiency 92 |
|
Chronic diarrhea, Esophagitis |
OMIM:619652 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Exocr... |
ORPHA:2255 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Intestinal malrotation, Female infertility |
ORPHA:244 |
Rothmund-Thomson Syndrome Type 2 |
|
Facial edema, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestinal tract, Cle... |
ORPHA:221016 |
Trisomy 18 |
|
Abnormality of the upper urinary tract, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft ... |
ORPHA:3380 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate |
ORPHA:457279 |
Erythroderma Desquamativum |
|
Diarrhea |
ORPHA:314 |
Hurler Syndrome |
|
Angina pectoris, Chronic diarrhea, Feeding difficulties, Macroglossia, Hypertension, Mucopolysacc... |
ORPHA:93473 |
Listeriosis |
|
Pericarditis, Abdominal pain, Congestive heart failure, Myocarditis, Diarrhea, Peritonitis, Pyelo... |
ORPHA:533 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormality of the adrenal glands, Abnormal parotid gland morphology, Abnor... |
ORPHA:252164 |
Trichohepatoneurodevelopmental Syndrome |
|
Polyhydramnios, Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, Hi... |
OMIM:618268 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Specific Granule Deficiency 2 |
|
Intractable diarrhea |
OMIM:617475 |
Apert Syndrome |
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Pyloric stenosis, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Hydronephrosis... |
OMIM:101200 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Immunodeficiency 9 |
|
Stomatitis, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:612782 |
Chromosome 17Q12 Duplication Syndrome |
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Esophageal atresia, Cleft soft palate |
OMIM:614526 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Selective Igm Deficiency |
|
Recurrent urinary tract infections, Raynaud phenomenon, Chronic diarrhea, Thyroid carcinoma, Croh... |
ORPHA:331235 |
Kindler Epidermolysis Bullosa |
|
Urethral stricture, Phimosis, Esophageal stricture, Neoplasm of the urethra, Inflammation of the ... |
ORPHA:2908 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Chronic diarrhea, Epididymitis, Hepatocellular carcinoma, Pro... |
OMIM:300755 |
Immunodeficiency 23 |
|
Esophageal stricture, Membranoproliferative glomerulonephritis, High palate, Vasculitis in the skin |
OMIM:615816 |
Immunodeficiency 7 |
|
Diarrhea |
OMIM:615387 |
Mucopolysaccharidosis Type 3 |
|
Malabsorption, Heparan sulfate excretion in urine, Atrioventricular block, Macroglossia, Mucopoly... |
ORPHA:581 |
Immunodeficiency 12 |
|
Esophageal stricture, Recurrent aphthous stomatitis |
OMIM:615468 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Ureteral obstruction, Hiatus hernia, Chronic diarrhea, Bladder diverticu... |
OMIM:304150 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, High, ... |
OMIM:615873 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Pulmonic ste... |
OMIM:600001 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia |
OMIM:615272 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Polyuria, Unilateral renal agenesis, Feeding difficulti... |
OMIM:617140 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Uterus didelphy... |
OMIM:617925 |
Microphthalmia, Syndromic 3 |
|
Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Esophageal atresia, Cr... |
OMIM:206900 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Chronic diarrhea |
OMIM:619824 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Gastroesophageal reflux, Tricuspid regurgit... |
OMIM:619534 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Abdominal disten... |
ORPHA:93271 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Aplasia of the thymus, Diarrhea, Chronic... |
OMIM:102700 |
Complement Component 5 Deficiency |
|
Intractable diarrhea |
OMIM:609536 |
Feingold Syndrome |
|
Esophageal atresia, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic diarrhea, Rectal abscess |
OMIM:116920 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Feeding difficulties in infancy, Esophageal atresia, Cleft palate |
OMIM:610536 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Polyhydramnio... |
OMIM:214800 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Feeding difficu... |
ORPHA:506358 |
Rat-Bite Fever |
|
Pericarditis, Myocarditis, Diarrhea, Vomiting, Pancreatitis, Parotitis |
ORPHA:31205 |
Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism, Aganglionic megacolon |
OMIM:613266 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Japanese Encephalitis |
|
Anorexia, Abdominal pain, Diarrhea, Vomiting, Inappropriate antidiuretic hormone secretion, Cereb... |
ORPHA:79139 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Pancreatic calcification |
ORPHA:677 |
Abetalipoproteinemia |
|
Congestive heart failure, Hypothyroidism, Chronic diarrhea, Vomiting, Steatorrhea, Fat malabsorpt... |
ORPHA:14 |
Rothmund-Thomson Syndrome |
|
Telangiectasia of the skin, Facial edema, Nasogastric tube feeding in infancy, Diarrhea, Vomiting... |
ORPHA:2909 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting |
ORPHA:3240 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Rectal abscess |
OMIM:601495 |
Dyskeratosis Congenita, X-Linked |
|
Decreased testicular size, Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral ... |
OMIM:305000 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Esophageal atresia, Tracheoesophage... |
OMIM:192350 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Abnormal tongue morphology, Chronic diarrhea, Hypohidrosis, Anoperineal fistula |
ORPHA:158668 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Telangiectasi... |
ORPHA:420741 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Elevated circulating parathyroid hormone level |
OMIM:307800 |
Cystic Fibrosis |
|
Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesoph... |
ORPHA:586 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Anorectal anomaly, Chronic diarrhea, Cleft palate, Pollakisuria, Anal atresia |
ORPHA:647 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Chronic diarrhea |
OMIM:600802 |
Feingold Syndrome 1 |
|
Jejunal atresia, Tricuspid stenosis, Polyhydramnios, Esophageal atresia, Gastrointestinal atresia... |
OMIM:164280 |
Van Esch-O'Driscoll Syndrome |
|
Hypogonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, Feeding difficultie... |
OMIM:301030 |
Maternal Phenylketonuria |
|
Esophageal atresia, Abnormal renal morphology, High palate, Bladder exstrophy |
ORPHA:2209 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea |
OMIM:617765 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent gastroenteritis, Anal fissure, Perianal dermatitis, Bloody diarrhea |
ORPHA:294023 |
Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Diarrhea, Macroglossia, Mitral regurgitation, Macroorchidism |
OMIM:208400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, High palate, Micropenis, Pe... |
OMIM:619503 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea |
OMIM:619484 |
Farber Disease |
|
Chronic diarrhea, Hydrops fetalis, Feeding difficulties, Joint swelling, Hepatic failure, Ascites |
ORPHA:333 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea, Hyperhidrosis |
OMIM:614441 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Esophageal varix, Feeding difficulties, Azoospermia, Pulmonary ... |
ORPHA:2072 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Diarrhea |
OMIM:308230 |
Immunodeficiency 25 |
|
Protracted diarrhea |
OMIM:610163 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Diarrhea |
ORPHA:276 |
Omenn Syndrome |
|
Diarrhea, Hypoplasia of the thymus |
OMIM:603554 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Palpebral edema, Protruding tongue, Chronic diarrhea, Narrow ... |
ORPHA:99843 |
Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Lymphedema, Feeding difficulties in infancy, High, narrow palate, ... |
OMIM:163950 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Chronic diarrhea, Aplasia of the thymus, Genital ulcers |
OMIM:602450 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertrophic cardiomyopathy, Esophageal varix, Portal hypertension |
ORPHA:309854 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Rectovaginal fistula |
ORPHA:35078 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Chronic diarrhea, Abnormal s... |
OMIM:208900 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Diarrhea, Vomiting, Testicular... |
ORPHA:217253 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Esophageal stricture, Oral leukoplakia |
OMIM:224230 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Anhidrosis, Chronic diarrhea, Hypohidrosis, Aplasia of the sweat glands, Recurrent infection of t... |
OMIM:612132 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Chronic diarrhea |
ORPHA:169154 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Heparan sulfate excretion in urine, Chronic diarrhea, Dermatan sulfate excretion in urine, Heart ... |
ORPHA:217085 |
Chikungunya |
|
Epistaxis, Raynaud phenomenon, Facial edema, Diarrhea, Pedal edema, Joint swelling, Vomiting |
ORPHA:324625 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic diarrhea, Aplasia of the thymus |
OMIM:242700 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heparan sulfate excretion in urine, Chronic diarrhea, Dermatan sulfate excretion in urine, Heart ... |
ORPHA:217093 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Polyhydramnios, High, narrow palate, High palate, Gastroe... |
OMIM:619472 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Polyhydramnios, Aplasia/Hypoplastia of the eccrine sweat gland... |
ORPHA:1662 |
Congenital Tracheomalacia |
|
Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, Gastroesophageal reflux, Pul... |
ORPHA:95430 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Chronic diarrhea |
OMIM:620072 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Transient ischemic attack, Gastroparesis, Unilateral renal agenesis, Bilatera... |
ORPHA:500150 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic diarrhea |
OMIM:616005 |
Immunodeficiency 47 |
|
Chronic diarrhea, Tricuspid regurgitation, Hypercholesterolemia, Exocrine pancreatic insufficiency |
OMIM:300972 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Protracted diarrhea |
ORPHA:331206 |
Cerebrotendinous Xanthomatosis |
|
Increased serum lactate, Cholelithiasis, Chronic diarrhea, Hypothyroidism |
ORPHA:909 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Diarrhea, Feeding difficulties |
OMIM:618278 |
Mucopolysaccharidosis Type 2 |
|
Chronic diarrhea, Macroglossia, Hypertension, Cardiomyopathy, Arrhythmia |
ORPHA:580 |
Immunodeficiency 55 |
|
Diarrhea |
OMIM:617827 |