Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod... |
OMIM:612526 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas |
ORPHA:2398 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Oligozoospermi... |
OMIM:615703 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Chylomicron Retention Disease |
|
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... |
OMIM:246700 |
Lactose Intolerance, Adult Type |
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Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Lipodystrophy, Familial Partial, Type 4 |
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Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Villous atrophy, Abdominal colic, Hyperlipidemia, Diarrhea, Protein-losing enteropathy, Vomiting,... |
OMIM:615863 |
Akt2-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Abnormal intestine mor... |
OMIM:606528 |
Lipe-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Hyperinsulinism Due To Insr Deficiency |
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Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... |
ORPHA:2198 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... |
OMIM:615381 |
Mantle Cell Lymphoma |
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Abnormality of the gastrointestinal tract, Fever, Anorexia, Splenomegaly, Weight loss |
ORPHA:52416 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
Lipodystrophy, Familial Partial, Type 1 |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
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Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Congenital Glucokinase-Related Hyperinsulinism |
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Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
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Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
Idiopathic Achalasia |
|
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level |
ORPHA:930 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Rabies |
|
Fever, Nausea and vomiting, Anorexia, Diarrhea, Attention deficit hyperactivity disorder |
ORPHA:770 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
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Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
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Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Diabetes mellitus, Lipodystrop... |
ORPHA:528 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Pparg-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:79083 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie... |
ORPHA:79237 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Increased hepatocellular ... |
ORPHA:71 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Poor suck, Hypoglycemia, Hypothermia |
OMIM:615026 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Secretory diarrhea, Recurrent hypoglycemia, Hypoalbuminemia, Vomit... |
OMIM:620357 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:151660 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Diarrhea, Jaundice, Esopha... |
ORPHA:75234 |
Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Abdominal pain, Vomiting, Decreased body weight |
ORPHA:314811 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... |
OMIM:620045 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:2348 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Bile Acid Malabsorption, Primary, 1 |
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Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Villous atrophy, Malabsorption, Reactive hypoglycemia, Diar... |
OMIM:600955 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia |
OMIM:601820 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Primary amenorrhea, Delayed thelarche, Hyperinsulinemic... |
OMIM:616033 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
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 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... |
ORPHA:276575 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Nausea, Poor appetite, Abno... |
ORPHA:2494 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... |
OMIM:605911 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
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 |
Inflammatory Pseudotumor Of The Liver |
|
Fever, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated... |
ORPHA:90003 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... |
OMIM:251880 |
Brunner Syndrome |
|
Self-injurious behavior, Diarrhea, Impulsivity, Aggressive behavior |
OMIM:300615 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
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 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... |
OMIM:613662 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Hereditary Central Diabetes Insipidus |
|
Fever, Diarrhea, Weight loss, Vomiting, Polydipsia |
ORPHA:30925 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Enteric Anendocrinosis |
|
Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting, Type I diabete... |
ORPHA:83620 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2070 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevate... |
OMIM:245400 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... |
ORPHA:171706 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Feeding difficulties in infa... |
OMIM:610883 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... |
ORPHA:65682 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Fail... |
OMIM:606824 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... |
OMIM:613217 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Fever, Hypoglycemia, Abdominal pain, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis |
OMIM:620137 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Central Diabetes Insipidus |
|
Hyponatremia, Fever, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Polydipsia, Failure to... |
ORPHA:178029 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hypoalbuminemia, Protei... |
ORPHA:79319 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Fever, Anorexia, Weight loss |
ORPHA:2023 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Ma... |
ORPHA:226313 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Hepatomegaly, Hypocholesterolemia, Splenomegaly |
OMIM:610539 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to rec... |
OMIM:608971 |
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 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
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 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
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 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weig... |
ORPHA:26790 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Hypothermia |
ORPHA:29822 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... |
ORPHA:280365 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypothermia, Elevated circulating acylcarnitine conc... |
ORPHA:159 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased ... |
ORPHA:276556 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... |
OMIM:606762 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Hyperinsulinemia, Abnormal pancrea... |
ORPHA:2849 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes m... |
OMIM:608594 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Di... |
OMIM:615710 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Vomiting, Hepatic fibrosis, Hepat... |
OMIM:278000 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Fever, ... |
ORPHA:20 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Protein-losing enteropathy, Vomiting,... |
OMIM:602579 |
Pulmonary Blastoma |
|
Fever, Weight loss |
ORPHA:64741 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Abnormality of temperature regulation, Malabsorption, Abdomina... |
ORPHA:42642 |
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 |
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 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:269700 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Nausea and vomiting, Pancreatic adenocarcinoma, Diabetes mellitus,... |
ORPHA:1333 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Type II d... |
ORPHA:3085 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Reactive hy... |
ORPHA:35878 |
Reticular Dysgenesis |
|
Fever, Malabsorption, Diarrhea, Weight loss, Failure to thrive |
ORPHA:33355 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Microglossi... |
ORPHA:141152 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... |
ORPHA:298 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Weight loss, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Secretory Component Deficiency |
|
Intermittent diarrhea |
OMIM:269650 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated ci... |
OMIM:610717 |
Autoinflammatory-Pancytopenia Syndrome |
|
Fever, Intestinal inflammation, Chronic diarrhea, Hepatosplenomegaly, Cholestatic liver disease, ... |
OMIM:619858 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Abnormal te... |
ORPHA:791 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyper... |
ORPHA:263455 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... |
OMIM:614602 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Hypothermia, Decreased ... |
ORPHA:90674 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Feeding difficulties, Intermittent diarrhea |
OMIM:620270 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian... |
OMIM:261550 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
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 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Diarrhe... |
OMIM:235555 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Anorexia, Malabsorption, Cachexia, Splenomegaly, Diarrhea, Ab... |
ORPHA:2930 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Cachexia, Hypomagnesemia, Diarrhea, Abdominal pain, Xerostomia, Hamartom... |
OMIM:175500 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Diarrhea, Splenomegaly, In... |
OMIM:601847 |
Secondary Intestinal Lymphangiectasia |
|
Fever, Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-ant... |
ORPHA:90363 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... |
OMIM:603041 |
Wolman Disease |
|
Fever, Hepatomegaly, Nausea and vomiting, Cachexia, Splenomegaly, Abdominal distention, Malnutrit... |
ORPHA:75233 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Elevated circulating phytanic acid concentration, Steatorrhea, Failure to thrive, H... |
OMIM:266510 |
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 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Diarrhea, Malnutrition,... |
ORPHA:96180 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Hypothermia, Insulin resistance, Elevated circulating creatinine concentration, Hyp... |
ORPHA:230 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Diarrhea, Hyperuricemia, Increased hepatic glycogen con... |
OMIM:261750 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Autoinflammation With Infantile Enterocolitis |
|
Fever, Villous atrophy, Elevated circulating C-reactive protein concentration, Feeding difficulti... |
OMIM:616050 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate amino... |
OMIM:617253 |
Tuberculosis |
|
Fever, Weight loss |
ORPHA:3389 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Bile duct proliferation, Macrovesicular... |
OMIM:618329 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis |
OMIM:620195 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... |
OMIM:203800 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Vomiting, Hypoalbuminemia, Hepatic... |
ORPHA:247585 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... |
ORPHA:2056 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas... |
OMIM:615363 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepat... |
ORPHA:369 |
Immunodeficiency 69 |
|
Fever, Splenomegaly, Increased circulating ferritin concentration, Diarrhea, Hepatosplenomegaly, ... |
OMIM:618963 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic... |
ORPHA:436182 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Hypoglycemia, Vomit... |
ORPHA:289504 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circula... |
ORPHA:264580 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentrati... |
OMIM:617872 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fever, Hepatomegaly, Anorexia, Splenomegaly, Weight loss |
ORPHA:86893 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Diarrhea, J... |
OMIM:602347 |
Timothy Syndrome |
|
Hypoglycemia, Hypothermia, Cardiomegaly, Hypocalcemia, Hypothyroidism |
OMIM:601005 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Ketotic hypoglycemia, H... |
ORPHA:2089 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption |
OMIM:229050 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancrea... |
OMIM:246200 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Goiter, Elev... |
ORPHA:90673 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Hypothermia, Feeding difficulties |
OMIM:614654 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,... |
OMIM:615160 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, ... |
ORPHA:53035 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Increased circulating farnesol concentration, Decreased LDL cholest... |
OMIM:618156 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Gastroesophageal reflux, Hypothermia |
ORPHA:168593 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly, Diarrhea, Failure to thrive |
OMIM:269840 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Fever, Intestinal obstruction, Liver abscess, Abdominal pain, Gast... |
ORPHA:67 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98797 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Fever, Hypoglycemia, Reduced C-peptide level, Weight loss, Neopla... |
ORPHA:2126 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Nausea and vomiting, Decreased circulating cortisol level, Hypoglycemia, Hypercalce... |
ORPHA:199299 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Increased body weight, Increased proinsul... |
ORPHA:94086 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive |
OMIM:612075 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
Meningococcal Meningitis |
|
Fever, Projectile vomiting, Elevated circulating C-reactive protein concentration, Hypothermia, A... |
ORPHA:33475 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Increased circula... |
ORPHA:785 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow... |
ORPHA:100082 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Diarrhea, Hypergl... |
ORPHA:927 |
Chronic Hiccup |
|
Weight loss, Malnutrition, Abnormal eating behavior |
ORPHA:396 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Chronic diarrhea, Elevated circula... |
OMIM:619481 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Villous atrophy, Malabsorption, Abdominal pain, Chronic diarrhea, ... |
ORPHA:398063 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Elevated hepatic transaminase, Premature ovarian insufficiency, D... |
ORPHA:79239 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... |
ORPHA:79230 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Feeding difficulties |
ORPHA:79238 |
Methanol Poisoning |
|
Abdominal pain, Hyperlipidemia, Diarrhea, Addictive alcohol use, Vomiting, Type II diabetes melli... |
ORPHA:31825 |
Orthostatic Hypotension 1 |
|
Intermittent hypothermia, Reduced circulating prolactin concentration, Increased blood urea nitro... |
OMIM:223360 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cryptorchidism, Insulin resistance, Flexion contracture, Elbow flexion contracture, Knee flexion ... |
OMIM:214150 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Failure to thrive, Constipation, Dysphagia |
ORPHA:309162 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97283 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Glucose-Galactose Malabsorption |
|
Fever, Failure to thrive, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactiv... |
ORPHA:35710 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Increased fecal coproporphyrin 3, Abdominal pain, Abnormal fear-induc... |
ORPHA:100924 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97278 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Attention deficit hyperactivity diso... |
OMIM:619971 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Immunodeficiency 27A |
|
Fever, Anorexia, Splenomegaly, Diarrhea, Hepatosplenomegaly, Weight loss, Hypoalbuminemia |
OMIM:209950 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Bowel urgency, Abdominal pain, Lack of bow... |
ORPHA:100080 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
Beta-Ketothiolase Deficiency |
|
Fever, Hepatomegaly, Hypoglycemia, Anorexia, Diarrhea, Hyperammonemia, Weight loss, Agitation, Vo... |
ORPHA:134 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Fever, Abnormality of the spleen, Diarrhea, Weight los... |
ORPHA:33276 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Fever, Hypothermia, Aggressive behavior, Celiac dise... |
ORPHA:293987 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Glycosur... |
ORPHA:69076 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... |
OMIM:619377 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
Alexander Disease |
|
Nausea and vomiting, Diabetes mellitus, Bowel incontinence, Hypothermia, Self-injurious behavior,... |
ORPHA:58 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... |
ORPHA:465508 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... |
OMIM:230400 |
Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Fever, Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic ... |
OMIM:619849 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Hypothermia, A... |
ORPHA:17 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... |
OMIM:222100 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Bloody diarrhea, Paralytic il... |
ORPHA:810 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Temperature... |
ORPHA:391673 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Hypothermia |
OMIM:608800 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Intermittent hypothermia, Feeding difficulties in infancy, Diarrhea, Tongue thrusting, Constipati... |
OMIM:608643 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Hepatomegaly, Fever, Anorexia, Malabsorption, Cachexia... |
ORPHA:3452 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Hyperaldosteronism, Vomiti... |
OMIM:264350 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Fever, Liver abscess, Elevated circulating C-reactive protein conc... |
ORPHA:54251 |
Rhabdoid Tumor |
|
Fever, Nausea and vomiting, Hypercalcemia, Poor appetite, Abdominal pain, Weight loss, Neoplasm o... |
ORPHA:69077 |
Isolated Agammaglobulinemia |
|
Fever, Diarrhea, Failure to thrive, Malabsorption |
ORPHA:229717 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Fever, Elevated circulating creatine kinase concentr... |
ORPHA:94093 |
Congenital Enterovirus Infection |
|
Fever, Fetal ascites, Hypothermia, Hepatitis, Cholestasis, Hyperammonemia, Hypoalbuminemia, Hepat... |
ORPHA:292 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Bloody diarrhea, Vomit... |
ORPHA:99826 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Lipoatrophy, Insulin resistance, Absence of subcutaneous fat, Ins... |
OMIM:269880 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic h... |
OMIM:212065 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Hypothermia, Obesity, Constipation |
OMIM:618493 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Maculopapular Cutaneous Mastocytosis |
|
Fever, Abdominal pain, Diarrhea, Vomiting, Nausea |
ORPHA:79457 |
Dracunculiasis |
|
Nausea and vomiting, Diarrhea, Low-grade fever |
ORPHA:231 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin resistanc... |
ORPHA:90301 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Hyperaldosteronism, Vomiting, Increas... |
OMIM:177735 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Abdominal distention, Diarrhea, Elevated circulating creatinine concentration, Chol... |
OMIM:608104 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hepatic steatosis, Hyper... |
ORPHA:247598 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Chro... |
OMIM:616433 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Diarrhea, Hyp... |
ORPHA:361 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Enlarged ovaries, Impaired glucose ... |
ORPHA:769 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Dysphagia |
ORPHA:50251 |
Propionic Acidemia |
|
Hepatomegaly, Constipation, Hyperammonemia, Hypoglycemia |
ORPHA:35 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Vomiting, Hepatic fibrosis, Hyponatremia, Abdominal pain, Hepat... |
ORPHA:275761 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97280 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hepato... |
ORPHA:14 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Hyponatremia, Decreased serum insulin-like growth factor 1, Abnorm... |
ORPHA:79324 |
Werner Syndrome |
|
Lipodystrophy, Lipoatrophy, Insulin resistance, Decreased fertility, Secondary amenorrhea, Hypogo... |
ORPHA:902 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Feedin... |
OMIM:619048 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Nausea and vomiting, Anorexia, Poor appetite, Hemate... |
ORPHA:100075 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Diabetes mellitus, Hypercalcemia, An... |
ORPHA:97282 |
Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Hepatomegaly, Intermit... |
ORPHA:97261 |
X-Linked Agammaglobulinemia |
|
Fever, Malabsorption, Chronic diarrhea, Hepatitis, Weight loss, Glossoptosis, Hypocalcemia, Failu... |
ORPHA:47 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Diarrhea, Inflammation of the large intestine, Failure to thrive |
OMIM:618108 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Self-injurious behavior, Constipation, Vomiting |
OMIM:613638 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Fever, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, ... |
ORPHA:319218 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia |
ORPHA:73272 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Fever, Chronic gastritis, Elevated circulating C-reactive protein concentration, Abdominal pain, ... |
OMIM:301074 |
Autosomal Agammaglobulinemia |
|
Fever, Malabsorption, Diarrhea, Hepatitis, High palate, Failure to thrive |
ORPHA:33110 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Failure to thrive, Hypothermia, Low plasma citrulline, Dysphagia, Hyperalani... |
ORPHA:255210 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Feedi... |
OMIM:618775 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Abdominal pain, Splenomegaly, Diarrhea, Constip... |
ORPHA:99745 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Failure to thrive, Aggressive behavior, Chronic diarrhea, Feeding difficulties, Chronic constipat... |
OMIM:617788 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... |
ORPHA:2394 |
Enterokinase Deficiency |
|
Diarrhea, Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, F... |
OMIM:613489 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypoglycemia, Hypothermia, Jaundice, Hyperammonemia, H... |
ORPHA:79282 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine... |
OMIM:226300 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Cach... |
ORPHA:83469 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Malabsorption, Hypersplenism, Diarrhe... |
ORPHA:98850 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
American Trypanosomiasis |
|
Fever, Hepatomegaly, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, ... |
ORPHA:3386 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Hepatic failure |
ORPHA:664 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, We... |
OMIM:212750 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Abdominal colic, Nausea and vomiting, Functional int... |
ORPHA:100079 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Weight loss |
ORPHA:85447 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Abdominal pain, Encopresis, Diarrhea, Obesity, Constipation, Gastroesophageal refl... |
ORPHA:589821 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
X-Linked Creatine Transporter Deficiency |
|
Hyperactivity, Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration, Ileu... |
ORPHA:52503 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Fever, Anorexia, Diarrhea, Hepatitis, Hepatosplenomegaly, Protracted diarrhea, Failure to thrive ... |
ORPHA:169160 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano... |
ORPHA:100085 |
Fatal Familial Insomnia |
|
Fever, Weight loss, Constipation, Dysphagia |
OMIM:600072 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Abnormal liver parenchyma morphology, Dysphagia |
ORPHA:1332 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, High palate,... |
OMIM:608836 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Diabetes mellitu... |
ORPHA:69663 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
Ethylene Glycol Poisoning |
|
Gastritis, Hypothermia, Hyperkalemia, Addictive alcohol use, Hypocalcemia, Vomiting, Nausea |
ORPHA:31826 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Diarrhea, Jaundice |
ORPHA:858 |
Progressive Nodular Histiocytosis |
|
Fever, Cachexia |
ORPHA:158022 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Colitis |
OMIM:619164 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Increased circulating very long-chain f... |
OMIM:609313 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Decreased testicular size |
ORPHA:98798 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Yao Syndrome |
|
Abdominal pain, Diarrhea, Xerostomia, Weight loss, Recurrent fever |
OMIM:617321 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Abdominal pain, Hyperglycemia, Exo... |
OMIM:609812 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, D... |
ORPHA:343 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Hyperprolinemia Type 2 |
|
Aggressive behavior, Abdominal pain, Diarrhea, Hyperprolinemia, Feeding difficulties, Hyperglycin... |
ORPHA:79101 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Diabetes mellitus, Anorexia |
ORPHA:49827 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi... |
ORPHA:440437 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins... |
ORPHA:508 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Abdominal pain, Abnormality of the spleen, Diar... |
ORPHA:79456 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... |
ORPHA:3464 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Elevated circulating creatine kinase concentrat... |
ORPHA:732 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Hypoglycemia, Hypothermia, Malabsorption, Feedi... |
ORPHA:565 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Nausea and vomiting, Abdominal pain, Diarrhea, ... |
ORPHA:99828 |
Classic Hodgkin Lymphoma |
|
Fever, Hepatomegaly, Anorexia, Poor appetite, Splenomegaly, Weight loss |
ORPHA:391 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Klatskin Tumor |
|
Fever, Cholangiocarcinoma, Hepatomegaly, Abdominal pain, Jaundice, Extrahepatic cholestasis, Weig... |
ORPHA:99978 |
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 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Hypothermia |
OMIM:309400 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Reye syndrome-like episodes, Diarrhea,... |
ORPHA:348 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
Sepsis In Premature Infants |
|
Fever, Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentra... |
ORPHA:90051 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis |
ORPHA:2221 |
Addison Disease |
|
Hyponatremia, Nausea and vomiting, Decreased circulating cortisol level, Salt craving, Hypoglycem... |
ORPHA:85138 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Hy... |
ORPHA:469 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Hypercalcemia,... |
ORPHA:913 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Diarrhea, Fever, Abdominal pain |
ORPHA:54057 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu... |
ORPHA:79327 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Diarrhea, Vomiting, Failure to thrive, Hypoketotic h... |
OMIM:610768 |
Aa Amyloidosis |
|
Hepatomegaly, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Cholestasis, Vomitin... |
ORPHA:85445 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:616860 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis |
OMIM:617638 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Elevated circulating creatine kinase concentration, Poor appetite, Diarrhea, Dysphagia, Nausea |
ORPHA:352447 |
Immunodeficiency 97 With Autoinflammation |
|
Fever, Hypertriglyceridemia, Abdominal pain, Increased circulating ferritin concentration, Diarrh... |
OMIM:619802 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Chronic diarrhea, Elevated circulating alanine aminot... |
OMIM:618805 |
Christianson Syndrome |
|
Cachexia, Feeding difficulties in infancy, Gastroesophageal reflux, Inappropriate laughter, Dysph... |
ORPHA:85278 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint con... |
OMIM:175700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Vomiting, Hyp... |
OMIM:615453 |
Immunodeficiency 31C |
|
Fever, Hepatomegaly, Villous atrophy, Diabetes mellitus, Splenomegaly, Diarrhea, Weight loss, Gas... |
OMIM:614162 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Cryptorchidism, Insulin resistance, Simplified gyral pattern,... |
OMIM:616541 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Fever, Elevated circulating C-reactive protein concent... |
ORPHA:767 |
Nephroblastoma |
|
Fever, Neoplasm of the liver, Abdominal pain, Weight loss |
ORPHA:654 |
Lassa Fever |
|
Fever, Nausea and vomiting, Abdominal pain, Diarrhea, Jaundice, Dysphagia |
ORPHA:99824 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Nausea and vomiting, Decreased circulating cortisol level, Salt craving, Hypoglycem... |
ORPHA:95409 |
Monosomy 13Q34 |
|
Hepatic steatosis, Insulin resistance, Metrorrhagia, Hypercalcemia |
ORPHA:96168 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric ... |
OMIM:607906 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Abdominal pain, Chronic di... |
ORPHA:90362 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Fever, Weight loss |
ORPHA:100024 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Kaufman Oculocerebrofacial Syndrome |
|
Intestinal malrotation, Feeding difficulties in infancy, Constipation, High palate, Hypocholester... |
OMIM:244450 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Chronic diarrhea, Chronic constipation... |
OMIM:142680 |
Immunodeficiency 60 And Autoimmunity |
|
Fever, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Splenomegaly, Diarrhea, Lymphocytic infiltration of the colorec... |
ORPHA:436159 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Failure to thrive |
OMIM:613501 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
Cholera |
|
Hyponatremia, Fever, Hypoglycemia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion con... |
ORPHA:173 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Diarrhea, Vomiting, Type I diabetes mellitus, Failure to thrive |
OMIM:560000 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... |
ORPHA:905 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypothermia, Malnutrition, Constipation, Dysphagia, Temperature instability |
ORPHA:99027 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
Multicentric Reticulohistiocytosis |
|
Fever, Cachexia |
ORPHA:139436 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Hypoalbuminemia... |
ORPHA:507 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... |
OMIM:619484 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja... |
ORPHA:100086 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Peptic ulcer, Hypercalcemia, Pancreatic islet cell adenoma, Diarrhea, Insulinoma, I... |
OMIM:131100 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Protract... |
OMIM:209920 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Reduced sperm motility |
OMIM:602271 |
Satoyoshi Syndrome |
|
Diarrhea, Mildly elevated creatine kinase, Malabsorption |
OMIM:600705 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li... |
ORPHA:440713 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Hyponatremia, Elevated hepatic transaminase, Small for... |
ORPHA:79325 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Periventricular nodular heterotopia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hypergly... |
OMIM:619737 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Co... |
ORPHA:90038 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
Igg4-Related Aortitis |
|
Fever, Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal p... |
ORPHA:449400 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating... |
OMIM:615954 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:614921 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea |
OMIM:176000 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuric... |
OMIM:232200 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79332 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes insipidus... |
OMIM:613404 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Chronic diarrhea |
OMIM:615285 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... |
ORPHA:79076 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections |
OMIM:601457 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Feeding difficulties, Hepatic steatosis, Bloody diarrhea |
OMIM:615119 |
Atypical Werner Syndrome |
|
Premature ovarian insufficiency, Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Abnormal c... |
ORPHA:79474 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Hypothermia, Feeding difficulties in infancy, Abdomina... |
OMIM:218700 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Jaundi... |
ORPHA:677 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, In... |
ORPHA:330001 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hypochlo... |
OMIM:214700 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Gastrointes... |
ORPHA:100078 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Focal Myositis |
|
Fever, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Failure to thrive, Pancreatic fibro... |
OMIM:557000 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Fever, Weight loss |
ORPHA:545 |
Silver-Russell Syndrome |
|
Precocious puberty, Cryptorchidism, Insulin resistance, Recurrent hypoglycemia, Premature adrenar... |
ORPHA:813 |
Immunodeficiency 19 |
|
Failure to thrive, Chronic diarrhea |
OMIM:615617 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Diarrhea, Hypoplastic ... |
OMIM:619313 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Splenomegaly, Diarrhea, Lymphocytic infiltration of the colorec... |
OMIM:616100 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Failure to thrive, Glossitis |
ORPHA:90045 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Diarrhea, En... |
ORPHA:79259 |
Relapsing Fever |
|
Elevated hepatic transaminase, Fever, Elevated circulating C-reactive protein concentration, Abdo... |
ORPHA:91547 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Dominant Beta-Thalassemia |
|
Diabetes mellitus, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Diarrhea, Jaundice,... |
ORPHA:231226 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Hepatomegaly, Diarrhea, Weight loss, Failure to thrive |
ORPHA:1842 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi... |
OMIM:613960 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Fever, Diarrhea, Weight loss |
ORPHA:411703 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Chronic diarrhea |
OMIM:614379 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Gastroesophageal reflux, Vomiting, Hypoalbuminemia, Hypocholesterol... |
OMIM:270400 |
Occipital Horn Syndrome |
|
Gastroparesis, Hypothermia, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis,... |
ORPHA:198 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea, Hypoglycemia |
OMIM:616355 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Furrowed tongue, Weight loss, Failure t... |
ORPHA:37 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fever, Poor appetite, Elevated circulating C-reactive protein concentration, Weight loss, Inflamm... |
ORPHA:324964 |
Immunodeficiency, Common Variable, 7 |
|
Fever, Splenomegaly, Chronic diarrhea |
OMIM:614699 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Abdominal pain, Diarrhea, Jaundice, Gastrointestinal inflammation,... |
ORPHA:39812 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarci... |
ORPHA:171 |
Snakebite Envenomation |
|
Hyponatremia, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting |
ORPHA:449285 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esoph... |
ORPHA:1018 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Chronic diarrhea, Ileus, Hepatitis, Type I diabetes mellitus, Failure to thrive |
OMIM:304790 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating C-reacti... |
OMIM:619644 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Anorexia, Poor appetite, Bowel urgency, Protracted diarrhea, Weight loss, Increased... |
ORPHA:97287 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use, Vomiting, Hypercholesterolemia, Hyperglycemia, Nausea |
ORPHA:90065 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Protruding tongue, Diarrhea, Macroglossia, Failure to thrive |
OMIM:242860 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Vomiting, Hypercalcemia, Weight loss |
OMIM:143880 |
Dubowitz Syndrome |
|
Hyperactivity, Feeding difficulties in infancy, Velopharyngeal insufficiency, Submucous cleft har... |
OMIM:223370 |
Immunodeficiency 56 |
|
Failure to thrive, Cholangitis, Chronic diarrhea, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Hepatomegaly, Diarrhea, Failure to thrive |
OMIM:618495 |
Tbck-Related Intellectual Disability Syndrome |
|
Hyperthyroidism, Decreased response to growth hormone stimulation test, Hypothermia, Cryptorchidi... |
ORPHA:488632 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Dia... |
ORPHA:101330 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Takayasu Arteritis |
|
Fever, Gastrointestinal infarctions, Anorexia, Weight loss |
ORPHA:3287 |
Methionine Malabsorption Syndrome |
|
Diarrhea, Positive ferric chloride test |
OMIM:250900 |
Acute Intermittent Porphyria |
|
Hyponatremia, Restlessness, Fever, Nausea and vomiting, Abdominal pain, Abdominal distention, Dia... |
ORPHA:79276 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:616069 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Fever, Nausea ... |
ORPHA:36426 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia, Vom... |
OMIM:616483 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Vomiting, Hepatomegaly, Abnormal circulating serine conc... |
ORPHA:470 |
Majeed Syndrome |
|
Fever, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Weight loss, Failure to thrive |
ORPHA:77297 |
Riboflavin Transporter Deficiency |
|
Cachexia, Aggressive behavior, Dysphagia |
ORPHA:97229 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Diarrhea, Recurrent aphthous stomatitis, Recurrent fever |
OMIM:150550 |
Immunodeficiency 9 |
|
Chronic diarrhea, Recurrent aphthous stomatitis, Stomatitis, Failure to thrive, Recurrent fever, ... |
OMIM:612782 |
Glutaric Aciduria Iii |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:231690 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... |
ORPHA:309031 |
Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Diabetes mellitus, Adipose tissue loss, Insuli... |
ORPHA:125 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Acute hepatic failure, Hepatomegaly, Elevated hepa... |
OMIM:276700 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Secretory diarrhea, Abnormal blood ion concentration, Colitis, Vomiting, Hypocalcemia, Hypoalbumi... |
ORPHA:37042 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Inflammation of the large intestine, Colitis |
OMIM:619281 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Nausea and vomiting, Lack of bowel sounds, Hepatic necrosis, Protr... |
ORPHA:100093 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Fever, Diabetes mellitus, Nausea, Abdominal pain, Intestinal perforation, Pancreati... |
ORPHA:544482 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... |
ORPHA:93941 |
Beta-Thalassemia Major |
|
Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Diarr... |
ORPHA:231214 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Vomiting, Tube feeding |
OMIM:619510 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:614576 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Weight loss |
ORPHA:317 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli... |
ORPHA:1667 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Fever, Poor appetite, Diarrhea, Elevated circulating creatinine co... |
ORPHA:542323 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hyperalaninemia, Increased serum pyruvate, Hyperglutamatemia, Hepatomegaly, Fai... |
ORPHA:3008 |
Familial Mediterranean Fever |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly... |
OMIM:249100 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Fever, Abdominal pain, Diarrhea, Nausea |
ORPHA:83313 |
Legionnaires Disease |
|
Hyponatremia, Fever, Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Jaund... |
ORPHA:549 |
Adrenocortical Carcinoma |
|
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, Ab... |
ORPHA:1501 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Hyperactivity, Splenomegaly, Diarrhea, Dysphagia |
OMIM:252930 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Biliary cirrhosis, Hepatosplenome... |
OMIM:219700 |
Familial Hypoaldosteronism |
|
Hyponatremia, Nausea and vomiting, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circul... |
ORPHA:427 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Elevated circulating C-reactive protein con... |
OMIM:619381 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Nausea and vomiting, Splenomegaly, Di... |
ORPHA:525731 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Feed... |
OMIM:620358 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Hepatomegaly, Diarrhea |
OMIM:240500 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Hypoglycemia, Feeding difficulties in infancy, Acute hepatic steatosis, Vom... |
OMIM:210200 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Elevated circulating C-reactive protein concentration, Abdominal pa... |
OMIM:617099 |
Immunodeficiency 15B |
|
Failure to thrive, Chronic diarrhea |
OMIM:615592 |
Neuroblastoma, Susceptibility To, 1 |
|
Fever, Abdominal pain, Diarrhea, Weight loss, Failure to thrive |
OMIM:256700 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic diarrhea |
OMIM:616740 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Feeding difficulties in infancy,... |
ORPHA:500055 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm |
OMIM:613807 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... |
ORPHA:100050 |
Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive |
ORPHA:314 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Splenomegaly, Diarrhea |
OMIM:252920 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Abdominal situs ambiguus, Immotile sperm |
OMIM:614874 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Malabsorption, Chronic diarrhea, High palate, Recurrent aphthous stom... |
OMIM:233600 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concentration, Constip... |
OMIM:223900 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Failure to thrive, Diarrhea, High palate, Steatorrhea, Hyperechogenic pancreas, Exo... |
OMIM:617941 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Feeding difficulties in infancy, Hyperkalemia, Vomiting |
OMIM:240200 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... |
OMIM:175200 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... |
ORPHA:679 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Insulin resistance, Hypermagnesemia,... |
ORPHA:358 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Cholelithiasis,... |
ORPHA:273 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... |
OMIM:617591 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Diarrhea, Type I diabetes ... |
OMIM:240300 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate |
OMIM:300215 |
Immunodeficiency 7 |
|
Splenomegaly, Hepatomegaly, Diarrhea, Failure to thrive |
OMIM:615387 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Type I diabetes mellitus, Abnormal circulating lipid concentration, Hyperl... |
ORPHA:1979 |
Renpenning Syndrome |
|
Diabetes mellitus, Cachexia, High, narrow palate, Cleft palate, Anal atresia |
ORPHA:3242 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Failure to thrive |
ORPHA:277 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... |
OMIM:137920 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:617049 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Encephalopathy, Ethylmalonic |
|
Failure to thrive, Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding... |
OMIM:602473 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:216866 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Esophageal stricture, Chronic diarrhea, Hyperkalemia, Hypoplastic spl... |
OMIM:617053 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Caspase 8 Deficiency |
|
Splenomegaly, Failure to thrive, Chronic diarrhea |
OMIM:607271 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Failure to thrive, Chronic diarrhea |
OMIM:300400 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Nodular Non-Suppurative Panniculitis |
|
Fever, Hepatomegaly, Nausea and vomiting, Abdominal pain, Splenomegaly, Weight loss |
ORPHA:33577 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fever, Nausea and vomiting, Intestinal obstruction, Malabsorption, Abdominal pain, Weight loss, G... |
ORPHA:183 |
Oromandibular Dystonia |
|
Weight loss, Bruxism, Dysphagia |
ORPHA:93958 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Diarrhea, Protracted diarrhea, Sclerosing cholangitis, Decreased circulating beta-2-microglobulin... |
ORPHA:572 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Cryptogenic Organizing Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Anorexia, Weight loss |
ORPHA:1302 |
Cutaneous Mastocytoma |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79455 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Fever, Abdominal pain, Diarrhea, Recurrent aphthous stomatitis, Recurrent infection of the gastro... |
ORPHA:486 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Hypop... |
OMIM:616026 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... |
OMIM:619418 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ... |
OMIM:619991 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Increased c... |
ORPHA:85443 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Fever, Hepatomegaly, Peptic ulcer, Abdominal pain, Splenomegaly, Diarrhea, Weight loss, Nausea |
ORPHA:98849 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Fee... |
OMIM:613385 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Nausea and vom... |
ORPHA:537 |
Avian Influenza |
|
Elevated hepatic transaminase, Fever, Elevated circulating creatine kinase concentration, Elevate... |
ORPHA:454836 |
Congenital Myopathy 20 |
|
Failure to thrive, Chronic diarrhea, High palate |
OMIM:620310 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Hypertriglyceridemia, Necrotizing enterocolitis, Villous atroph... |
OMIM:619573 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fever, Anorexia, Malabsorption, Splenomegaly, Diarrhea |
ORPHA:33226 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Fever, Intestinal obstruction, Nausea and vomiting, Malabsorption, Abdomin... |
ORPHA:342 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Diarrhea, Hepatomegaly |
OMIM:601979 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Fever, Diarrhea, Self-injurious behavior, Vomiting, Obsessive-compul... |
ORPHA:324636 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Pancreatitis, Hepatosplenomegaly, Episodic abdominal pain... |
OMIM:238600 |
Juvenile Huntington Disease |
|
Hyperactivity, Weight loss |
ORPHA:248111 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, High palate |
OMIM:614069 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Esophagitis, Recurrent fever |
OMIM:619652 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Secretory diarrhea, Feeding difficulties, Hematochezia, Prote... |
OMIM:618183 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... |
ORPHA:2176 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Fever, Hyperlipidemia, Diarrhea, Elevated circulating creatinine concentration, Increased blood u... |
OMIM:235400 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, H... |
ORPHA:436252 |
Rett Syndrome |
|
Cachexia, Constipation, Gastroesophageal reflux, Bruxism, Stereotypical hand wringing |
OMIM:312750 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Fever, Diabetes mellitus, Gastritis, Abdominal pain, Hematemesis, Pa... |
ORPHA:73263 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive |
ORPHA:51188 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Intermittent diarrhea, Feeding difficulties, High palate, Constipation, Attention defic... |
OMIM:618050 |
Adiposis Dolorosa |
|
Constipation, Xerostomia, Obesity, Diarrhea |
ORPHA:36397 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperactivity, Small for gestational age, Diarrhea, Weight loss, Agitation |
ORPHA:424 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fever, Hepatomegaly, Nausea and vomiting, Splenomegaly, Weight loss |
ORPHA:3226 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Hypocalcemia, Cachexia |
ORPHA:1438 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga... |
ORPHA:30391 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Hepatomegaly, Diarrhea |
OMIM:607594 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorchidism, Insuli... |
ORPHA:96182 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Unexplained fevers, Impulsivity, Hypothermia, Feeding difficulties, D... |
ORPHA:642 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Failure to thrive, Inflammation of the large intestine, Chronic ... |
ORPHA:98813 |
Melas |
|
Fever, Diabetes mellitus, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, ... |
ORPHA:550 |
Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Hypercalcemia, Nausea, Weight loss |
ORPHA:94080 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Fever, Nausea and vomiting, Abdominal pain, Peritonitis, Diarrhea, G... |
ORPHA:727 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Fever, Elevated circulating C-reactive protein concent... |
ORPHA:2902 |
Serotonin Syndrome |
|
Fever, Restlessness, Diarrhea, Agitation, Hepatic failure, Nausea |
ORPHA:43116 |
Allergic Bronchopulmonary Aspergillosis |
|
Low-grade fever, Weight loss |
ORPHA:1164 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties |
ORPHA:221098 |
Primary Myelofibrosis |
|
Fever, Hepatomegaly, Portal hypertension, Anorexia, Cachexia, Splenomegaly, Low-grade fever, Hepa... |
ORPHA:824 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties |
OMIM:616801 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis |
ORPHA:2575 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Diarrhea, Nausea and vomiting |
ORPHA:56425 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Calcinosis, Fever, Elevated circulating creatine kinase concentratio... |
ORPHA:93672 |
Young-Onset Parkinson Disease |
|
Restless legs, Gastroparesis, Impulsivity, Diarrhea, Constipation, Agitation, Nausea |
ORPHA:2828 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
Microsporidiosis |
|
Fever, Cholangitis, Anorexia, Cachexia, Abdominal pain, Abnormality of the spleen, Peritonitis, C... |
ORPHA:2552 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Hyperactivity, Diarrhea |
OMIM:252900 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Sarcoidosis |
|
Fever, Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Portal hypertension, Sca... |
ORPHA:797 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavi... |
ORPHA:2131 |
Deeah Syndrome |
|
Hepatomegaly, Abnormality of temperature regulation, Malabsorption, Chronic diarrhea, Narrow pala... |
OMIM:619004 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Feeding difficulties |
ORPHA:157973 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea |
OMIM:619446 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... |
OMIM:232220 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia, Aggressive behavior, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhe... |
ORPHA:457279 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Elevated circulating creatine kinase... |
OMIM:610377 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Decreased circu... |
OMIM:300972 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Hypogly... |
OMIM:617093 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Elevated ... |
ORPHA:160 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Hyperammonemia, Anorexia, Weight loss |
ORPHA:79242 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Elevated carcinoma antigen 125 level, Elevated cir... |
ORPHA:370348 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin... |
ORPHA:681 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy... |
ORPHA:330015 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:66661 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Abdominal... |
OMIM:229600 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Fever, Elevated circulating C-reactive protein concentration, Odyn... |
ORPHA:319213 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Self-injurious behavior, Con... |
ORPHA:371364 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Failure to thrive, Hyperammonemia, Dysphagia |
OMIM:616457 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Fever, Decreased circulating cortisol level, Hypoglycemia, Jaundice, Hyperkalemia, ... |
ORPHA:90790 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Poor appetite, Splenomegaly, Diarrhea, Decreased serum zinc, Failure to thrive |
OMIM:201100 |
Reactive Arthritis |
|
Fever, Abdominal pain, Diarrhea, Weight loss, Inflammation of the large intestine, Recurrent apht... |
ORPHA:29207 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Elevated maternal serum alpha-fetoprotein, Congenital p... |
OMIM:226730 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, Sp... |
ORPHA:32960 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Fever, Hypoglycemia, Diarrhea, Jaundi... |
ORPHA:90062 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm |
OMIM:612650 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Aicardi-Goutieres Syndrome 7 |
|
Fever, Hepatomegaly, Atrophic gastritis, Hematemesis, Increased circulating ferritin concentratio... |
OMIM:615846 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Macroglossia, Chronic diarrhea |
OMIM:618523 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Splenomegaly, Chronic diarrhea, Inflammation of the large in... |
OMIM:614700 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... |
ORPHA:90797 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Good Syndrome |
|
Diarrhea, Diabetes mellitus, Dysphagia |
ORPHA:169105 |
Cerebrotendinous Xanthomatosis |
|
Diarrhea, Xanthelasma, Pseudobulbar paralysis, Abnormal circulating cholesterol concentration, Ch... |
OMIM:213700 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Fever, Intestinal perforation, Hematemesis, Bloody diarrhea, Hematoc... |
ORPHA:464321 |
Gm1 Gangliosidosis |
|
Splenomegaly, Hepatosplenomegaly, Weight loss, Macroglossia, Feeding difficulties, Gastroesophage... |
ORPHA:354 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Hypophosphatemia, We... |
ORPHA:143 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abdominal symptom, H... |
ORPHA:400 |
Paroxysmal Cold Hemoglobinuria |
|
Fever, Diarrhea, Nausea and vomiting |
ORPHA:90035 |
Imerslund-Gräsbeck Syndrome |
|
Poor appetite, Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis |
ORPHA:35858 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Tangier Disease |
|
Left ventricular hypertrophy, Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly |
ORPHA:31150 |
Systemic Capillary Leak Syndrome |
|
Abdominal pain, Diarrhea, Pancreatitis, Weight loss |
ORPHA:188 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
Malakoplakia |
|
Fever, Abdominal pain, Diarrhea, Neoplasm of the rectum, Neoplasm of the colon |
ORPHA:556 |
Mucopolysaccharidosis, Type Iiid |
|
Restlessness, Hyperactivity, Hepatomegaly, Aggressive behavior, Splenomegaly, Diarrhea, Macroglos... |
OMIM:252940 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea |
OMIM:612692 |
Alveolar Echinococcosis |
|
Fever, Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Abnorma... |
ORPHA:284 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Fever, Abdominal pain, Abdominal distention, Diarrhea,... |
ORPHA:93552 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Malabsorption, Diarrhea, Atypical or prolonged hepatitis, Hypocalcemic tetany, Failure to thrive,... |
ORPHA:83471 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea, Elevated circulating creatine kinase concentration |
OMIM:615084 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Reduced sperm motility |
OMIM:615500 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation, Recurrent fever |
OMIM:608654 |
Acute Promyelocytic Leukemia |
|
Fever, Anorexia, Abdominal pain, Weight loss, Addictive alcohol use, Stomatitis |
ORPHA:520 |
Familial Gestational Hyperthyroidism |
|
Hyperactivity, Agitation, Diarrhea, Weight loss |
ORPHA:99819 |
Infantile Krabbe Disease |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Gastroesophageal reflux, Vom... |
ORPHA:206436 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, High urinary ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, High urinary ... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, High urinary ... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, High urinary ... |
ORPHA:881 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Hepatosplenomegaly, Type I diabe... |
OMIM:606367 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Diarrhea, Jaundice, Failure to thrive, Recurrent fever |
ORPHA:276 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Portal hypertension, D... |
ORPHA:79124 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased serum iron, Hypothermia, Feeding difficulties, Constipation, Gastroesophageal reflux, D... |
ORPHA:438213 |
Bartter Syndrome, Type 1, Antenatal |
|
Fever, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestational a... |
OMIM:601678 |
Omenn Syndrome |
|
Fever, Hepatomegaly, Splenomegaly, Chronic diarrhea, Failure to thrive |
ORPHA:39041 |
Hereditary Late-Onset Parkinson Disease |
|
Impulsivity, Weight loss, Chronic constipation, Agitation, Dysphagia |
ORPHA:411602 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Immunodeficiency 17 |
|
Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroenteritis, ... |
OMIM:615607 |
Immunodeficiency 22 |
|
Fever, Diarrhea, Failure to thrive, Protracted diarrhea |
OMIM:615758 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Cirrh... |
OMIM:308230 |
Bartter Syndrome, Type 2, Antenatal |
|
Fever, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Diarrhea, H... |
OMIM:241200 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Hepatic steatosis, Hepatomegaly, Chronic diarrhea, Hypoka... |
ORPHA:699 |
Thymoma |
|
Neoplasm of the gastrointestinal tract, Fever, Ulcerative colitis, Weight loss |
ORPHA:99867 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Splenomegaly, Failure to thrive, Chronic diarrhea |
OMIM:619824 |
Liposarcoma |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:69078 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... |
OMIM:619487 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... |
OMIM:609069 |
Osteosarcoma |
|
Fever, Weight loss |
ORPHA:668 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Diarrhea, Bicarbonaturia, Hypokalemia, Vomiting, Glycosuria, Polydipsia, Failure t... |
ORPHA:47159 |
Acute Monoblastic/Monocytic Leukemia |
|
Fever, Anorexia, Weight loss |
ORPHA:514 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Failure to thrive, Small for gestational age, Abnormality of the p... |
OMIM:222470 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Protein avoidance, Increased circulating ferritin concentration, Dia... |
OMIM:222700 |
Aredyld Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Type II diabetes mellitus, Type I diabetes mellitus |
ORPHA:1133 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Chronic diarrhea, Hepatosplenomegaly, Colitis, Stomatitis, Failure to thrive, Recurrent infection... |
ORPHA:911 |
Bacterial Toxic-Shock Syndrome |
|
Fever, Elevated circulating creatine kinase concentration, Abdominal pain, Diarrhea, Peritonitis,... |
ORPHA:36234 |
Giant Cell Arteritis |
|
Fever, Anorexia, Abdominal pain, Weight loss, Gastrointestinal infarctions, Hepatic failure, Glos... |
ORPHA:397 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Aggressive behavior, Diarrhea, Vomiting, Episodic vomiting, Recurrent fever |
OMIM:618321 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Cachexia, High palate, Narrow palate |
OMIM:618186 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Specific Granule Deficiency 2 |
|
Intractable diarrhea, Failure to thrive |
OMIM:617475 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Chronic diarrhea, Hepatic fibrosis, Failure to thrive, Oral leukoplakia |
OMIM:613989 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm... |
ORPHA:729 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility |
OMIM:612649 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, Hepatosplenomegaly, Macroglo... |
OMIM:309900 |
Malt Lymphoma |
|
Fever, Nausea and vomiting, Abdominal pain, Weight loss, Constipation |
ORPHA:52417 |
Huntington Disease-Like 1 |
|
Restlessness, Weight loss |
ORPHA:157941 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Splenomegaly, Bloody diarrhe... |
ORPHA:84064 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Failure to thrive in infancy |
OMIM:301220 |
Dend Syndrome |
|
Hyperglycemia, Vomiting, Elevated hemoglobin A1c |
ORPHA:79134 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Diarrhea, Failure to thrive, Hypoproteinemia |
OMIM:603554 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
Igg4-Related Retroperitoneal Fibrosis |
|
Fever, Nausea and vomiting, Elevated circulating C-reactive protein concentration, Anorexia, Abdo... |
ORPHA:49041 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Duodenal ulcer, Peptic ulcer, Anorexia, Hypercalcemia, Hematemesis, Abd... |
ORPHA:652 |
Rheumatoid Arthritis |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Rat-Bite Fever |
|
Fever, Diarrhea, Weight loss, Vomiting, Pancreatitis, Parotitis |
ORPHA:31205 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Poor appetite, Weight loss |
ORPHA:312 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Hemorrhagic Fever-Renal Syndrome |
|
Elevated hepatic transaminase, Fever, Abdominal pain, Hematemesis, Diarrhea, Elevated circulating... |
ORPHA:340 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Diarrhea, Failure to thrive, Vomiting |
OMIM:275350 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Intestinal malrotati... |
OMIM:613658 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... |
ORPHA:139411 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Idiopathic Bronchiectasis |
|
Fever, Cachexia |
ORPHA:60033 |
Isolated Succinate-Coq Reductase Deficiency |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:3208 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Fever, Cholangiti... |
ORPHA:480520 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Chronic diarrhea, Colitis, Recurrent aphthous stomatitis, Esophagi... |
OMIM:618131 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Brucellosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Fever, Liver abscess, Small for gestatio... |
ORPHA:1304 |
Biotinidase Deficiency |
|
Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Hyperammonemia, Vomiting |
OMIM:253260 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Fever, Cholangitis, Malabsorption, Feeding difficulties in infancy... |
ORPHA:3260 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea |
ORPHA:36412 |
Acute Radiation Syndrome |
|
Fever, Diarrhea, Vomiting |
ORPHA:454831 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Fever, Failure to thrive, Chronic diarrhea, Hepatosplenomegaly |
ORPHA:169154 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Immotile sperm |
OMIM:613808 |
Flynn-Aird Syndrome |
|
Type II diabetes mellitus, Cachexia |
ORPHA:2047 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Bloody diarrhea, Hematochezia, Inflammatio... |
OMIM:617718 |
Scorpion Envenomation |
|
Fever, Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated ... |
ORPHA:466677 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of temperature regulation, Diarrhea, Inc... |
ORPHA:90321 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Inflam... |
OMIM:232240 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fever, Weight loss, Hepatosplenomegaly |
ORPHA:86884 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Hepatosplenomegaly, Protracted diarrhea, Fail... |
ORPHA:331206 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Diarrhea, Esophageal carcinoma, Enterocolitis, Hepatitis, Hepatosplenomegaly, Ab... |
ORPHA:391487 |
Carney Complex |
|
Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ... |
ORPHA:1359 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Abdominal distention, Chronic diarrhea, Cholestasis, Gastroesophageal reflux, Vomit... |
OMIM:620233 |
Hyper-Igd Syndrome |
|
Abdominal pain, Splenomegaly, Diarrhea, Chronic diarrhea, Hepatosplenomegaly, Vomiting, Recurrent... |
OMIM:260920 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, Abdomina... |
ORPHA:91139 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Constipatio... |
ORPHA:79102 |
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 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Reduced sperm motility |
OMIM:615444 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Fever, Multiple joint contractures, Hypogonadotropic hypogonadism,... |
ORPHA:79318 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Chronic diarrhea, Chronic constipation, High palate, Attention deficit hyperactivit... |
OMIM:619005 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... |
ORPHA:99429 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Failure to thrive, Recurrent infection of the gastr... |
OMIM:612132 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Diarrhea, Vomiting |
ORPHA:3240 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysp... |
OMIM:219800 |
Diffuse Alveolar Hemorrhage |
|
Fever, Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Plague |
|
Fever, Hepatomegaly, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, Enterocolitis... |
ORPHA:707 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophagea... |
OMIM:618268 |
Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy, Bowel incontinence |
ORPHA:702 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Fever, Weight loss |
ORPHA:79127 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Elevated circulating creatinine concen... |
ORPHA:730 |
Farber Disease |
|
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice... |
ORPHA:333 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Fever, Elevated hepatic transaminase, Hepatitis, Weight loss |
ORPHA:139402 |
Colchicine Poisoning |
|
Hyponatremia, Diarrhea, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Vomiting... |
ORPHA:31824 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Diabetes mellitus, Intestinal malrotation, Biliary atresia... |
OMIM:600001 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostom... |
ORPHA:99921 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Chronic diarrhea, Rectal abscess |
OMIM:601495 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Splenomegaly, Diarrhea, Chronic diarrhea, Failure to thrive, Recurrent fever |
OMIM:102700 |
Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Pancreatic islet cell adenoma, Hypercalcemia, Weight loss |
ORPHA:97289 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Fever, Elevated circulating C-reacti... |
ORPHA:48435 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Anorexia, Splenomegaly, Hepatitis, Hepatosple... |
ORPHA:781 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Perry Syndrome |
|
Inappropriate behavior, Disinhibition, Weight loss |
OMIM:168605 |
Yellow Fever |
|
Fever, Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulati... |
ORPHA:99829 |
Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea |
OMIM:301500 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Hypoglycemia, Cachexia, Abnormal large intestine morphology, Narrow palate,... |
ORPHA:109 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Weight loss |
ORPHA:79430 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia |
ORPHA:300605 |
Cocaine Intoxication |
|
Fever, Elevated circulating creatine kinase concentration, Abdominal pain, Intestinal perforation... |
ORPHA:90068 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation |
OMIM:105210 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
Erdheim-Chester Disease |
|
Fever, Nausea and vomiting, Abdominal pain, Retroperitoneal fibrosis, Weight loss, Xanthelasma, P... |
ORPHA:35687 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm |
OMIM:242670 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gastroparesis, Intestinal pseudo-obstruction, Weight loss, Dysphagia, Mildly elevated creatine ki... |
OMIM:607459 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Chronic diarrhea, Small for gestational age, Malabsorption |
OMIM:601675 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Weight loss |
ORPHA:95626 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Sapho Syndrome |
|
Malabsorption, Abdominal pain, Chronic diarrhea, Inflammation of the large intestine, Steatorrhea |
ORPHA:793 |
Complement Component 5 Deficiency |
|
Intractable diarrhea |
OMIM:609536 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Fever, Nausea and vomiting, Anorexia, Malabsorption, Abdominal pain,... |
ORPHA:117 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic diarrhea, Rectal abscess, Elevated circulating C-reactive protein concentration |
OMIM:116920 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic abdominal pain, Hypercalcemia, Nausea, Weight loss |
ORPHA:276621 |
Riddle Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Diarrhea, Weight loss, Recu... |
ORPHA:420741 |
Japanese Encephalitis |
|
Hyponatremia, Fever, Anorexia, Abdominal pain, Diarrhea, Vomiting |
ORPHA:79139 |
Distal Renal Tubular Acidosis |
|
Poor appetite, Diarrhea, Hypokalemia, Vomiting, Constipation, Polydipsia, Failure to thrive |
ORPHA:18 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Failure to thrive, Intestinal obstruction, Chronic diarrhea |
OMIM:600802 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Lower-limb joint contracture, Glycosuria, Arthrogry... |
ORPHA:99885 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal t... |
ORPHA:221008 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:704 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Hyperammonemia, Hyperg... |
OMIM:220111 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Diabetes mellitus, Impaired g... |
ORPHA:99889 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Small for gestational age, Intestinal malrotation, Neonatal insulin-dependent ... |
ORPHA:2255 |
Sandhoff Disease |
|
Hepatomegaly, Chronic diarrhea, Hepatosplenomegaly, Episodic abdominal pain, Macroglossia |
OMIM:268800 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Hypercalcemia, Abdominal distention, Abnormal tongue morphology, Diarrhea,... |
ORPHA:653 |
Hutchinson-Gilford Progeria Syndrome |
|
Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneous fat, Del... |
ORPHA:740 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon |
ORPHA:163746 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Kawasaki Disease |
|
Fever, Nausea and vomiting, Abdominal pain, Diarrhea, Jaundice, Hepatitis, Cholecystitis, Glossitis |
ORPHA:2331 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... |
ORPHA:8 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Chronic diarrhea, Hepatosplenomegaly |
OMIM:242700 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Hepatocellular necrosis, Hepatosplenome... |
OMIM:618278 |
Sarcoidosis, Susceptibility To, 1 |
|
Fever, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Inflammation of the large intestine, Ab... |
OMIM:181000 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hyperactivity, Malabsorption, Aggressive behavior, Hypersexuality, Splenomegaly, Ma... |
ORPHA:581 |
8P23.1 Microdeletion Syndrome |
|
High palate, Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
Lymphoid Interstitial Pneumonia |
|
Fever, Hepatomegaly, Failure to thrive, Weight loss |
ORPHA:79128 |
Choreoacanthocytosis |
|
Hepatomegaly, Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Ele... |
ORPHA:2388 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Fever, Intestinal obstruction, Nausea and vomiting, Elevated circula... |
ORPHA:900 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Polysplenia, Reduced progressive sperm motility |
OMIM:619608 |
Crimean-Congo Hemorrhagic Fever |
|
Fever, Hepatomegaly, Acute pancreatitis, Nausea and vomiting, Elevated circulating creatine kinas... |
ORPHA:99827 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Listeriosis |
|
Fever, Liver abscess, Abdominal pain, Diarrhea, Peritonitis, Jaundice, Hepatic granulomatosis, Vo... |
ORPHA:533 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Small for gestational age, Protruding tongue, Chronic diarrhea, Narrow palate, Recu... |
ORPHA:99843 |
Pneumocystosis |
|
Fever, Weight loss |
ORPHA:723 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal t... |
ORPHA:221016 |
Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Diarrhea, Periportal fibrosis, Gastroesophageal reflux, Vomiting, ... |
ORPHA:79328 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure |
OMIM:619431 |
Nijmegen Breakage Syndrome |
|
Hyperactivity, Anal stenosis, Diarrhea, Cleft palate, Recurrent infection of the gastrointestinal... |
OMIM:251260 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, High, narrow palate, Abnormal repetitive mannerisms, Chronic diarrhea, Polyphagia,... |
OMIM:615873 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Cachexia, Aggressive behavior, Obesity, High palate |
ORPHA:85293 |
Leptospirosis |
|
Fever, Hepatomegaly, Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Jaundice, Hepatitis... |
ORPHA:509 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea, Hypoalbuminemia |
OMIM:614441 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Fever, Weight loss |
ORPHA:747 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Failure to thrive in infancy, Chronic diarrhea, Hepatosplenomegaly, Rectovaginal fistula, Recurre... |
ORPHA:35078 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Cleft palate, Attention deficit hyp... |
ORPHA:647 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea |
OMIM:617765 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Chronic diarrhea |
OMIM:602450 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... |
ORPHA:29073 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic abdominal pain, Hypercalcemia, Nausea, Weight loss |
ORPHA:29072 |
Felty Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:47612 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Elevated ... |
ORPHA:50918 |
Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat... |
ORPHA:2020 |
Ogden Syndrome |
|
Maternal diabetes, Microvesicular hepatic steatosis, Diarrhea, Jaundice, Narrow palate, Feeding d... |
OMIM:300855 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding |
ORPHA:221139 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, High palate, Elevated circulating creatine kinase concentration, Dysphagia |
OMIM:164310 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea |
OMIM:300953 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia, Feeding difficulties |
ORPHA:217346 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Weight loss, Unconjugated hyperbilirubinemia, Hyp... |
OMIM:613673 |
Immunodeficiency 25 |
|
Protracted diarrhea |
OMIM:610163 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Glycosuria, Hypokalemi... |
ORPHA:3337 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Weight loss, Hypochloremia, Fee... |
ORPHA:90794 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Chronic diarrhea, Glucos... |
OMIM:208900 |
Dubowitz Syndrome |
|
Anal stenosis, Malabsorption, Rectal prolapse, Submucous cleft hard palate, Chronic diarrhea, Hig... |
ORPHA:235 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Small for gestational age, Nasogastric tube feeding in infancy, Diarrhea, Vomiting |
ORPHA:2909 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Fever, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation... |
ORPHA:95455 |
African Trypanosomiasis |
|
Hepatomegaly, Aggressive behavior, Splenomegaly, Diarrhea, Jaundice, Hepatosplenomegaly, Weight l... |
ORPHA:3385 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Nocardiosis |
|
Fever, Liver abscess, Anorexia, Peritonitis, Weight loss, Vomiting |
ORPHA:31204 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ... |
ORPHA:251510 |
Renal Nutcracker Syndrome |
|
Abdominal pain, Nausea, Weight loss |
ORPHA:71273 |
Wiskott-Aldrich Syndrome |
|
Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, Melena, Inflammation of the large in... |
OMIM:301000 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Obesity, Macroglossia, Glossoptosis, Constipation, High palate, Gastroesophageal reflux, Hypergly... |
ORPHA:444077 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility, Abdominal situs inversus |
OMIM:619607 |
Poems Syndrome |
|
Diabetes mellitus, Weight loss |
ORPHA:2905 |
Gerstmann-Straussler Disease |
|
Weight loss, Aggressive behavior |
OMIM:137440 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Diarrhea |
OMIM:307200 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Furrowed tongue |
OMIM:158310 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent gastroenteritis, Anal fissure, Perianal dermatitis, Bloody diarrhea |
ORPHA:294023 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Short hard palate, Anorexia |
ORPHA:1969 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic diarrhea |
OMIM:616005 |
Hurler Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia |
ORPHA:93473 |
Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Cleft palate, ... |
ORPHA:84 |
Zttk Syndrome |
|
Absent gallbladder, Feeding difficulties in infancy, Chronic diarrhea, Submucous cleft hard palat... |
OMIM:617140 |
Nmda Receptor Encephalitis |
|
Fever, Hypersexuality, Diarrhea, Agitation, Vomiting, Abnormal repetitive mannerisms |
ORPHA:217253 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Feeding ... |
ORPHA:2072 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fever, Retroperitoneal fibrosis, Xerostomia, Weight loss, Enlargement of parotid gland, Abnormal ... |
ORPHA:79078 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Cachexia, Feeding difficulties in infancy, Cl... |
ORPHA:800 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Failure to thrive, Hypoalbuminemia, Cachexia |
OMIM:610965 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Peritonitis, Microcolon, Ileal atresia |
OMIM:619351 |
Wiskott-Aldrich Syndrome |
|
Fever, Hematemesis, Chronic diarrhea, Hematochezia, Inflammation of the large intestine |
ORPHA:906 |
Selective Igm Deficiency |
|
Stomach cancer, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Crohn's disease |
ORPHA:331235 |
Trisomy 18 |
|
Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia |
ORPHA:3380 |
Pulmonary Alveolar Microlithiasis |
|
Fever, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, Increased circulati... |
ORPHA:60025 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Hyperactivity, Impulsivity, Aggressive behavior, Splenomegaly, Chronic diarrhea, Ma... |
ORPHA:580 |
Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea, Obesity |
OMIM:620072 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Microcolon |
OMIM:619362 |
Pyomyositis |
|
Fever, Weight loss |
ORPHA:764 |
Granulomatosis With Polyangiitis |
|
Fever, Weight loss |
OMIM:608710 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Failure to thrive, Abnormal tongue morphology, Chronic diarrhea, Anoperineal fistula |
ORPHA:158668 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Feeding difficulties in infancy, Fever, Weight loss |
ORPHA:221 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Retroperitoneal fibrosis, ... |
ORPHA:449395 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... |
OMIM:304150 |
Mucolipidosis Type Ii |
|
Splenomegaly, Weight loss, Hepatosplenomegaly, Protuberant abdomen, Gastrostomy tube feeding in i... |
ORPHA:576 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Low-grade fever, Hepatosplenomegaly |
ORPHA:85408 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cachexia, Feeding difficulties in... |
ORPHA:191 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Asplenia |
OMIM:244400 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Chronic diarrhea, Hepatocellular carcinoma |
OMIM:300755 |
Chikungunya |
|
Fever, Diarrhea, Vomiting |
ORPHA:324625 |
Tsh-Secreting Pituitary Adenoma |
|
Nausea and vomiting, Hypokalemia, Vomiting, Weight loss |
ORPHA:91347 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea |
OMIM:167100 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia, Vaginitis, Peritonitis, Impaired neutrophil chemotaxis |
ORPHA:2968 |
Cerebrotendinous Xanthomatosis |
|
Aggressive behavior, Chronic diarrhea, Agitation, Attention deficit hyperactivity disorder, Prolo... |
ORPHA:909 |
Immunodeficiency 55 |
|
Diarrhea |
OMIM:617827 |
Viss Syndrome |
|
Chronic gastritis, Failure to thrive, Duodenitis, Intestinal malrotation, Cleft soft palate, Subm... |
OMIM:619472 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy,... |
ORPHA:500150 |
Familial Thrombocytosis |
|
Splenomegaly, Weight loss |
ORPHA:71493 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Anorexia, Feeding difficulties in infancy, Splenomegaly, Slender build |
ORPHA:1328 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Fever, Elevated circulating C-reactive protein concentration, Anorexia, Abdominal pain, Elevated ... |
ORPHA:91500 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... |
ORPHA:1772 |
Stickler Syndrome |
|
Slender build, Cachexia, Feeding difficulties in infancy, Cleft palate, Macroglossia, Glossoptosi... |
ORPHA:828 |
Marfan Syndrome |
|
Cachexia, High, narrow palate, Cleft palate, Attention deficit hyperactivity disorder, Slender build |
ORPHA:558 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Splenomegaly, Macroglossia, Chronic diarrhea, Hepatosplenomegaly |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Splenomegaly, Macroglossia, Chronic diarrhea, Hepatosplenomegaly |
ORPHA:217093 |
Aspartylglucosaminuria |
|
Macroglossia, Diarrhea, Hepatomegaly |
OMIM:208400 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Tropical Endomyocardial Fibrosis |
|
Fever, Hepatomegaly, Cachexia, Splenomegaly, Malnutrition, Hypoalbuminemia |
ORPHA:75565 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Self-injurious behavior, Attention deficit hyperactivity disorder, F... |
ORPHA:649 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Rectal prolapse, Gastroesophageal reflux, Com... |
ORPHA:904 |
Goodpasture Syndrome |
|
Fever, Weight loss, Increased blood urea nitrogen |
OMIM:233450 |
Proteus Syndrome |
|
Splenomegaly, Cachexia |
ORPHA:744 |