Human Coronavirus Sensitivity |
|
Susceptibility to coronavirus 229e |
OMIM:122460 |
Varicella, Severe Recurrent |
|
Severe recurrent varicella |
OMIM:600670 |
Leishmaniasis, Tegumentary, Susceptibility To |
|
Tegumentary leishmaniasis susceptibility |
OMIM:602068 |
Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Polyphagia, Obesity, Overgrowth, Red hair, Hepatic steatosis |
OMIM:620195 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... |
ORPHA:329249 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Diarrhea, Chronic diarrhea, Recurrent infections |
OMIM:614102 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Agitation, Type... |
ORPHA:276575 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Lactose Intolerance, Adult Type |
|
Flatulence, Diarrhea, Abdominal pain |
OMIM:223100 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
Ficolin 3 Deficiency |
|
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... |
OMIM:613860 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia, Hyperglycemia |
OMIM:222100 |
Immunodeficiency 104 |
|
Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal... |
OMIM:608971 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyce... |
OMIM:608594 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... |
ORPHA:276608 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tra... |
OMIM:613501 |
Rabies |
|
Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Anorexia |
ORPHA:770 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Hirsutism, Elevated hepatic transaminase, Acut... |
OMIM:269700 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Insulin resistance, Obesity, Type II diabetes mellitus, Hypercholesterolemi... |
OMIM:615703 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Increased m... |
OMIM:610717 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ... |
ORPHA:261229 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... |
OMIM:608709 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Polyphagia, Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis |
OMIM:614379 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... |
ORPHA:528 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Recurrent candida infections |
OMIM:242870 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:151660 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Diarrhea, Recurrent candida infections |
OMIM:269840 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Tall stature, Elevated circulating growth hormone concentration, Pituita... |
OMIM:300942 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... |
ORPHA:263455 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... |
OMIM:617872 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hyperactivity, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... |
OMIM:619048 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Glucose intolerance, Cardiomyopathy,... |
OMIM:606069 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis, Hypertrigl... |
ORPHA:436182 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Insulin resistance, Hyperlipidemia, Abdominal obesity, Hepatic ... |
OMIM:615980 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Low anterior hairline, Delayed thelarche, Hyperinsuline... |
OMIM:616033 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Immunodeficiency 19 |
|
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea |
OMIM:615617 |
6Q16 Microdeletion Syndrome |
|
Thick eyebrow, Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Hepatic steatosis, Generalized hirsutism |
ORPHA:79087 |
Hirschsprung Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Sepsis, Functional abnorma... |
ORPHA:388 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting |
OMIM:610370 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... |
OMIM:615547 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... |
OMIM:615381 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea |
OMIM:618662 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Diarrhea, Abdominal pain |
OMIM:222900 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation |
ORPHA:160148 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent otitis media, Recurrent ... |
OMIM:612692 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... |
OMIM:619386 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Hyperinsulinemia, Abnormal pancreas morphology, Ta... |
ORPHA:2849 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa... |
ORPHA:2457 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... |
OMIM:619446 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Spleno... |
ORPHA:525731 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Failure to thrive, Hepatic steatosis, Ketotic hypoglycemia |
ORPHA:26792 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea |
ORPHA:231 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant dia... |
ORPHA:79086 |
Diarrhea 9 |
|
Diarrhea |
OMIM:618168 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Long eyela... |
OMIM:606407 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:79083 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Highly arched eyebrow, Abnormal repetitive mannerisms, Synophrys, Generalized hirs... |
ORPHA:228402 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Obesity, Hypogonadism, Hypoplas... |
OMIM:615996 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Sepsis, Chronic oral candidiasis |
OMIM:616740 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... |
ORPHA:905 |
Immunodeficiency 15B |
|
Chronic oral candidiasis, Chronic diarrhea, Recurrent infections |
OMIM:615592 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, I... |
OMIM:613327 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ... |
ORPHA:398079 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Premature pubarche, Hypopigmentation of hair, Impulsivity, Precocious puber... |
ORPHA:398069 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di... |
OMIM:615767 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... |
ORPHA:79319 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Obesity, Overgrowth, High anterior hairline, Polyphagia, Hirsutism |
OMIM:616831 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Abnormal heart morphology, Decreased liver function, Dysphagia, Hypertr... |
ORPHA:70472 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent... |
OMIM:613960 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... |
ORPHA:369 |
Immunodeficiency, Common Variable, 2 |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent oti... |
OMIM:240500 |
Man1B1-Cdg |
|
Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes, ... |
ORPHA:397941 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention deficit hyperactivit... |
ORPHA:210548 |
Cebalid Syndrome |
|
Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... |
OMIM:246200 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Hyperactivity, Obesity, Aggressive behavior |
OMIM:620270 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Reduced subcutaneous adipose tissue, ... |
ORPHA:280365 |
Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Tenesmus, Hematochezia, Chronic constipation, Episodic abdominal pain, Bloody dia... |
ORPHA:209964 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic diarrhea, Recurrent... |
OMIM:614699 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar... |
OMIM:608612 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Abdominal pain |
OMIM:620137 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Adrenal calcification, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, ... |
OMIM:278000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cachexia, Cardiomegaly, Distal arthrog... |
ORPHA:42 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Chronic active hepatitis, Hypergonadotropi... |
OMIM:203800 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... |
ORPHA:189427 |
Secondary Short Bowel Syndrome |
|
Cholestasis, Central hypothyroidism, Weight loss, Primary hypothyroidism, Steatorrhea, Failure to... |
ORPHA:95427 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Anorexia, Diarrhea, Recurrent pneumonia, Recurrent candida infections, Recurrent infections, Prot... |
ORPHA:169160 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Peritonitis, Recurrent meningococcal disease |
OMIM:615561 |
Lactase Deficiency, Congenital |
|
Diarrhea |
OMIM:223000 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hypercholesterolemia, Hepatic steatosis, Decreased liver function |
OMIM:616829 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Hepatic ... |
ORPHA:300536 |
Immunodeficiency, Common Variable, 1 |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent oti... |
OMIM:607594 |
Immunodeficiency 76 |
|
Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis |
OMIM:619164 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Alopecia, Sparse scalp hair, Impaired... |
OMIM:248370 |
Coproporphyria, Hereditary |
|
Constipation, Vomiting, Diarrhea, Abdominal pain |
OMIM:121300 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Delayed puberty, Polyphagia, Enlarged kidney |
ORPHA:251004 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Diarrhea, Recurrent opportunistic infections, Failure to thrive secondary to recurrent infections |
OMIM:601457 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Recurrent infections, Re... |
OMIM:615207 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level... |
ORPHA:71212 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Recurrent infections |
OMIM:229050 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial s... |
OMIM:615981 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Vomiting, Diarrhea |
OMIM:615863 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Scarring, Hepatocellular carci... |
ORPHA:101330 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva... |
OMIM:617253 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... |
OMIM:261680 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hypoglycemic seizures, Hepatic necrosis, Hyper... |
OMIM:231530 |
Angelman Syndrome |
|
Hyperactivity, Fair hair, Precocious puberty in females, Aggressive behavior, Tongue thrusting, O... |
ORPHA:72 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Recurrent infections |
OMIM:228600 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response to growth hormone sti... |
OMIM:176270 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypog... |
OMIM:602579 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent pneumonia, Recurrent infections, Recurrent aphthous stomatitis, Chronic oral ... |
OMIM:150550 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent pneum... |
ORPHA:277 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes... |
ORPHA:739 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Increased sarcop... |
ORPHA:264580 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hepatomegaly, Decreased body mass ind... |
ORPHA:247585 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Malnutrition, Protracted diarrhea |
OMIM:251850 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Dilated cardiomyopathy, Elevated circulating alanine ... |
OMIM:618805 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis |
OMIM:619079 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,... |
ORPHA:769 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract... |
OMIM:209920 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo... |
OMIM:235200 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis... |
OMIM:201475 |
Trisomy 18P |
|
Highly arched eyebrow, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Secretory diarrhea, Recurrent bronchiolitis, Vomiting |
OMIM:616069 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614582 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent urinary tract infections, Dia... |
OMIM:618495 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... |
ORPHA:94086 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Hypothyroidism, Obesit... |
ORPHA:412 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Diarrhea, Sepsis |
ORPHA:33355 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Enterokinase Deficiency |
|
Diarrhea |
OMIM:226200 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight |
ORPHA:890 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Ventricular septal defect, Precocious puberty, Hypothyroidism, Hyperlipidemia, Syn... |
ORPHA:254346 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Recurrent respiratory infections, Diarrhea, Vomiting |
OMIM:264350 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol galls... |
ORPHA:209902 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... |
OMIM:261750 |
Cog7-Cdg |
|
Diarrhea, Feeding difficulties, Recurrent infections |
ORPHA:79333 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Chronic diarrhea, Recurrent infections |
OMIM:615285 |
Erythroderma Desquamativum |
|
Diarrhea |
ORPHA:314 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting |
ORPHA:30925 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent viral infections, Diarrhea, Chronic mucocutaneous can... |
ORPHA:572 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, I... |
OMIM:615830 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Hypercholesterolemi... |
ORPHA:69663 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hepatosplenomegaly, Hypop... |
OMIM:619013 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Synophrys, Asymmetr... |
OMIM:252920 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Recurrent respiratory infections, Diarrhea |
ORPHA:90035 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting |
OMIM:619445 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Synophrys, Self hugging, I... |
OMIM:182290 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties |
OMIM:619971 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Diabetes mellitus, Impaired glucose tolerance, Elevated circulat... |
ORPHA:2088 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Diarrhea, Gastritis, Inflammation of the large intestine |
OMIM:618108 |
Mehmo Syndrome |
|
Diabetes mellitus, Agitation, Obesity |
ORPHA:85282 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Long... |
OMIM:156200 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Insulin resistanc... |
ORPHA:91 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic fai... |
ORPHA:228305 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosple... |
ORPHA:444490 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, Recurrent upper respiratory tract infections, Recurrent candida infections, Recurrent i... |
OMIM:614069 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Severe recurrent varicella, Recurrent opportunistic infectio... |
ORPHA:276 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Large for gestational age, Aggressive behavior, Synophrys, Self-injurious behavior, Agitation |
OMIM:616116 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Immunodeficiency 7 |
|
Recurrent otitis media, Recurrent respiratory infections, Diarrhea, Chronic oral candidiasis |
OMIM:615387 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Steatorrhea |
OMIM:613291 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Ventricular septal defect, Inguinal hernia, Congenital diaphragmati... |
ORPHA:96121 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... |
ORPHA:911 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Abdomin... |
ORPHA:486 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry... |
OMIM:619064 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... |
ORPHA:79303 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Alopecia, Multiple joint contractures, H... |
ORPHA:2959 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Absent facial hair, Sparse facial hair, Obesity, Mitral valve pro... |
ORPHA:2183 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Vomiting, Steatorrhea |
OMIM:246700 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Ventricular septal defect, Aggressive behavior, Fine hair, Sparse hair, Polyphagia,... |
ORPHA:251028 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Micr... |
OMIM:610198 |
Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Hypoglycemia, Cardiomyopath... |
OMIM:212138 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia... |
ORPHA:293987 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Brittle hair, Mitral valve prolapse, Disproportionate tall stature, Failure to t... |
OMIM:236200 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... |
OMIM:256810 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Overweight, Repetitive compulsive behavior, Flexion contracture, Abnormal hear... |
ORPHA:391372 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic diarrh... |
OMIM:116920 |
Severe Combined Immunodeficiency, X-Linked |
|
Chronic diarrhea, Recurrent pneumonia, Recurrent fungal infections, Chronic oral candidiasis |
OMIM:300400 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sepsis, Diarrhea |
ORPHA:229717 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Sepsis, Melena, Vomiting, D... |
ORPHA:319218 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Recurrent respiratory infections, Recurrent urinary tract infections, Anorex... |
ORPHA:90045 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Biliary tract abnormality, Obesity, Membranous subvalvular aortic stenosis, Type... |
ORPHA:3191 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Poor appetite, Diarrhea, Recurrent infections, Dysphagia, Nausea |
ORPHA:352447 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting |
ORPHA:83620 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ... |
ORPHA:79474 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertensio... |
OMIM:619487 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac... |
ORPHA:298 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation |
ORPHA:85447 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Obesity, Chole... |
OMIM:615630 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... |
OMIM:614300 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice |
ORPHA:858 |
1P36 Deletion Syndrome |
|
Hepatic steatosis, Failure to thrive, Abnormal eyebrow morphology, Abnormal heart valve morpholog... |
ORPHA:1606 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
Rotor Syndrome |
|
Jaundice, Storage in hepatocytes, Intermittent jaundice |
ORPHA:3111 |
Adnp Syndrome |
|
Sparse scalp hair, Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesi... |
ORPHA:404448 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea |
OMIM:613217 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... |
ORPHA:98908 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea |
OMIM:618523 |
Weaver Syndrome |
|
Inguinal hernia, Fine hair, Overgrowth, Camptodactyly, Sparse hair, Umbilical hernia, Joint contr... |
OMIM:277590 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Facial hypertrichosis, Insul... |
ORPHA:508 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Recurrent bacterial infe... |
OMIM:601495 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhos... |
ORPHA:98907 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure |
ORPHA:75234 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea |
ORPHA:103910 |
Radiation Proctitis |
|
Intestinal obstruction, Diarrhea, Sepsis, Tenesmus, Hematochezia |
ORPHA:70475 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... |
ORPHA:465508 |
Helsmoortel-Van Der Aa Syndrome |
|
Atrial septal defect, Hyperactivity, Decreased response to growth hormone stimulation test, Abnor... |
OMIM:615873 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea |
OMIM:606824 |
Monosomy 13Q34 |
|
Insulin resistance, Obesity, Horizontal eyebrow, Pulmonic stenosis, Common atrium, Hepatic steatosis |
ORPHA:96168 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurr... |
OMIM:613489 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Intractable ... |
OMIM:617475 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Obesity, Low posterior hairline, Mitral valve prolapse, Hypogonadism |
ORPHA:2233 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Dilated cardiomyop... |
OMIM:611126 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Constipation, Dysphagia |
ORPHA:309162 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Ventricular septal defect, Fa... |
OMIM:619418 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Neuroendocrine Tumor Of The Rectum |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100082 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Diarrhea, Recurrent bac... |
OMIM:307200 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... |
ORPHA:71 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Dilated cardiomyop... |
ORPHA:99901 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... |
ORPHA:541423 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Chronic d... |
OMIM:242700 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Fair hair |
OMIM:269920 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Crohn's disea... |
OMIM:616100 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Knee flexion contracture, Hepati... |
ORPHA:79322 |
Alg1-Cdg |
|
Chronic diarrhea, Sepsis, Decreased liver function, Recurrent infections |
ORPHA:79327 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Cardiomegaly |
OMIM:618838 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Diarrhea, Sepsis, Recurrent candida infections, Recurrent inf... |
ORPHA:83471 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Type II diabetes mellitus, Obesity |
ORPHA:2377 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Poor suck |
OMIM:617788 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea |
OMIM:277175 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... |
OMIM:616263 |
Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased c... |
ORPHA:453533 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... |
OMIM:608836 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, Hypertrophic cardiom... |
OMIM:614702 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Hepatic steatosis |
OMIM:275630 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Rett Syndrome |
|
Agitation, Cholecystitis, Increased serum leptin, Failure to thrive, Abnormal repetitive manneris... |
ORPHA:778 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Recurrent mycobacterial infections, Chronic diarrhea, Chronic mu... |
ORPHA:98813 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:178029 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Cog4-Cdg |
|
Neonatal sepsis, Fatal liver failure in infancy, Recurrent upper respiratory tract infections, Fe... |
ORPHA:263501 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Failure to thrive, Cardiomegaly |
OMIM:614096 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Obesity, Self-injuriou... |
OMIM:600430 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting |
OMIM:231690 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... |
OMIM:615812 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... |
OMIM:620135 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Cardiomyopathy, Left ventricular h... |
ORPHA:746 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Immunodeficiency 40 |
|
Chronic diarrhea, Recurrent pneumonia, Chronic oral candidiasis, Recurrent otitis media, Intermit... |
OMIM:616433 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hypergonadotropic hypogonadism, Perica... |
OMIM:212065 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Diarrhea, Gastritis |
ORPHA:2575 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... |
ORPHA:2234 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Thick hair, Highly arched eyebrow, Overweight, Dilated cardiomyopathy, Typ... |
ORPHA:401923 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea, Recurrent infections |
OMIM:615084 |
Fucosidosis |
|
Hepatomegaly, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, Failure to thrive, Hypot... |
ORPHA:349 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Repetitive compulsive behavior, Microvesicular hepatic steatosis, ... |
ORPHA:66634 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism |
OMIM:604931 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea |
ORPHA:29822 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Pulmonic valve myxoma, Jaundice, Cholestasis, Bacterial endocarditis |
ORPHA:615 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Chronic diarrhea |
OMIM:607271 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Diarrhea, Sepsis, Recurrent infections |
ORPHA:33110 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypogonadism, Obesity |
OMIM:615985 |
Trichohepatoenteric Syndrome 2 |
|
Chronic diarrhea, Diarrhea, Colitis, Bloody diarrhea |
OMIM:614602 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis |
OMIM:617638 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity, Synophrys |
ORPHA:589905 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Obesity, Congenital hypothyroidism, Red hair, Fair hair |
OMIM:614613 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Recurrent infections, Vomiting, Recurrent lower... |
OMIM:226300 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Nausea |
ORPHA:927 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hyperlipidemia, Hepatic calcification, Cardiomyopathy, Abnormal myoca... |
ORPHA:228308 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Cardiomyopathy, Hypothyroidism, Neonatal hypogl... |
ORPHA:445038 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Sepsis, Dysphagia |
ORPHA:99824 |
Classic Galactosemia |
|
Diarrhea, Sepsis, Feeding difficulties, Vomiting, Hepatic failure |
ORPHA:79239 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Fasting hypoglycemia, Hepatic steatosi... |
ORPHA:348 |
Eosinophilic Gastroenteritis |
|
Abdominal pain, Diarrhea, Steatorrhea, Hematochezia, Vomiting, Dysphagia |
ORPHA:2070 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Recurrent can... |
ORPHA:436159 |
Omenn Syndrome |
|
Recurrent bacterial infections, Diarrhea, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Immunodeficiency 9 |
|
Stomatitis, Chronic diarrhea, Recurrent aphthous stomatitis, Recurrent infections |
OMIM:612782 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Right ventricular dilatation |
ORPHA:369840 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Recurrent sinusitis |
OMIM:617765 |
Cantu Syndrome |
|
Bicuspid aortic valve, Curly eyelashes, Large for gestational age, Pericardial effusion, Cardiome... |
OMIM:239850 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Elevated circul... |
OMIM:300972 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypothyroidism, ... |
ORPHA:699 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Splenome... |
ORPHA:79240 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Neuroendocrine Tumor Of The Colon |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Protracted diarrh... |
ORPHA:100080 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Large for gestation... |
OMIM:616026 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Nausea |
OMIM:176000 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... |
OMIM:277900 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea |
ORPHA:100924 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Hepatic steatosis |
ORPHA:52430 |
Immunodeficiency 69 |
|
Diarrhea |
OMIM:618963 |
Rapadilino Syndrome |
|
Diarrhea, Feeding difficulties |
OMIM:266280 |
Typhoid |
|
Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain |
ORPHA:99745 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... |
OMIM:618329 |
Cutaneous Mastocytoma |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79455 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration, Microvesicul... |
OMIM:605814 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Synophrys, Atrial septal defect, Hypothyroidism, Patent foramen ovale, Sel... |
OMIM:607872 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Hypoglycemia, Cardiomegaly, Dysphagia, Hypertrophic cardiomyopathy, Paroxysmal burs... |
ORPHA:391428 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... |
ORPHA:93111 |
Immunodeficiency 22 |
|
Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, Chronic oral candidi... |
OMIM:615758 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Recurrent viral infections, Recurrent upper respiratory tract infections, Chroni... |
ORPHA:169154 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Hypertrophic cardi... |
ORPHA:436271 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Gastrointestinal dysmotility, Hyper... |
OMIM:603041 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Recurrent infections |
OMIM:619824 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Recurrent candida infections, Protracted diarrhea |
OMIM:610163 |
Sotos Syndrome |
|
Tall stature, Ventricular septal defect, Aggressive behavior, Sparse eyebrow, Muscular ventricula... |
OMIM:117550 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Recurrent respiratory infections, Diarrhea |
ORPHA:1842 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development |
OMIM:610628 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... |
OMIM:620185 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairlin... |
OMIM:300860 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Anorexia |
ORPHA:49827 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Anorexi... |
ORPHA:20 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Ventricular septal defect, Large for gestational age, Abn... |
ORPHA:254534 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Glucose intolerance, Hepatic fibrosis, Atrial septal defect, Hepatic steat... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Glucose intolerance, Hepatic fibrosis, Atrial septal defect, Hepatic steat... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Glucose intolerance, Hepatic fibrosis, Atrial septal defect, Hepatic steat... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Glucose intolerance, Hepatic fibrosis, Atrial septal defect, Hepatic steat... |
ORPHA:881 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Feeding difficulties |
OMIM:177735 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Enamel hypoplasia |
OMIM:253250 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysphagia |
ORPHA:589821 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abno... |
ORPHA:163681 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Liver Disease, Severe Congenital |
|
Dry hair, Cardiomegaly, Biliary hyperplasia, Elevated hepatic iron concentration, Atrial septal d... |
OMIM:619991 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Hirsutism |
OMIM:184700 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Aggressive behavior, Patent foramen ov... |
ORPHA:17 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Splenomegaly, Cardiomyopathy |
OMIM:256550 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea |
OMIM:601979 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Recurrent ear infections, Recurrent viral infections, Diarrhea,... |
ORPHA:79124 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Hypoglycemia, Hypothyroidism, Hyperlipidem... |
ORPHA:79259 |
Nk-Cell Enteropathy |
|
Abdominal pain, Diarrhea, Hematochezia, Constipation, Gastroesophageal reflux |
ORPHA:263665 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function, Cardiomyopathy |
OMIM:614922 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Chronic diarrhea, Anorexia, Abdominal pain |
ORPHA:65682 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Chronic diarrhea, Vomiting, Tube feeding |
OMIM:619510 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Synophrys, Flexion contracture, Low anterior hairline, Hirsutism, Low... |
OMIM:617303 |
Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Woodhouse-Sakati Syndrome |
|
Alopecia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant ... |
ORPHA:3464 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... |
ORPHA:67 |
Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Left atrial enlargement, Decreased serum leptin, L... |
OMIM:614008 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Bowel urgency, Poor appetite, Anorexia, Hematemesis, Lack of bowel sounds, B... |
ORPHA:100075 |
Hyperprolinemia Type 2 |
|
Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain |
ORPHA:79101 |
Immunodeficiency 36 With Lymphoproliferation |
|
Recurrent bacterial infections, Recurrent lower respiratory tract infections, Recurrent upper res... |
OMIM:616005 |
Timothy Syndrome |
|
Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hypothyroidism, Tetralogy of Fallot, Paten... |
OMIM:601005 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Brittle hair, Hypoglycemia, Cholangitis, Microvesicular hepatic st... |
OMIM:124000 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Hepatic failure, Steatorrhea |
OMIM:235555 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ... |
ORPHA:555874 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Alopecia, Diabetes mellitus, Hypergonadotropic hypogonadism, Decre... |
ORPHA:273 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Anorexia, Diarrhea, Episodic abdominal pain, Recurrent infect... |
ORPHA:361 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Hypertriglyceri... |
ORPHA:275761 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Abdominal pain, Diarrhea,... |
OMIM:619802 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Vomiting |
OMIM:175500 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Type II diabetes mellitus, Obesity |
OMIM:618620 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Self-injur... |
OMIM:620330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Decreased liver function, Increased intramyocellular l... |
OMIM:220110 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... |
ORPHA:343 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Feeding difficulties in infancy, Diarrhea, Constipation, ... |
OMIM:223900 |
Mucopolysaccharidosis, Type Iiia |
|
Diarrhea, Recurrent upper respiratory tract infections |
OMIM:252900 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Diarrhea, Sepsis, Recurrent bacterial infections, Chronic oral candidiasis, Stomatitis, Recurrent... |
OMIM:308230 |
Graft Versus Host Disease |
|
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Recurrent infections, Vomiting, Recurren... |
ORPHA:39812 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Addictive alcohol use, Cirrhosis, ... |
ORPHA:57777 |
Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea |
OMIM:300215 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal... |
ORPHA:331206 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Chronic diarrhea, Recurrent gastroenteritis, Chronic oral candi... |
OMIM:615607 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Recurrent bacterial infections, Diarrhea, Abdominal pain |
ORPHA:36412 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Diarrhea |
ORPHA:56425 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Small for gestational age... |
ORPHA:26793 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding |
OMIM:607906 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hypothyroidism, Steatorrhea, Hepatic f... |
ORPHA:14 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Atrial septal defect, Flexion contracture of finger, Hypergonadotropic hypogonadism... |
OMIM:602782 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Obesity |
OMIM:603233 |
Galactosemia I |
|
Diarrhea, Vomiting, Decreased liver function |
OMIM:230400 |
Good Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Diarrhea, Dysphagia |
ORPHA:169105 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... |
ORPHA:411511 |
Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Large for gestational age, Precocious puberty, Abnormal heart morphology, Self-i... |
ORPHA:261652 |
Aa Amyloidosis |
|
Abdominal pain, Chronic diarrhea, Malnutrition, Vomiting, Nausea |
ORPHA:85445 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Sp... |
OMIM:619127 |
Legionnaires Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Recurrent pharyngitis, Diarrhea, Sepsis |
ORPHA:549 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Inguinal hernia, Ventricular sept... |
OMIM:619525 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting |
ORPHA:79456 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Neuromuscular dysphagia, Vomiting, Diarrhea |
ORPHA:449285 |
Shigellosis |
|
Anorexia, Abdominal pain, Peritonitis, Sepsis, Ulcerative colitis, Bloody diarrhea, Paralytic ile... |
ORPHA:810 |
Dengue Fever |
|
Nausea and vomiting, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:99828 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Chronic gastritis, Abdominal pain, Diarrhea, Chronic constipati... |
OMIM:301074 |
3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Vomiting, Decreased liver function |
OMIM:608104 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia |
OMIM:252930 |
Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Obesity, Proportionate tall stature, Atrial septal defect, Umbilical hernia,... |
ORPHA:404443 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Microvesicular hepatic steatosis,... |
OMIM:617156 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Hepatic fibrosis, Obesity, Cholestasis |
OMIM:616629 |
Immunodeficiency 27A |
|
Diarrhea, Anorexia |
OMIM:209950 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Left ventricular hyper... |
OMIM:617713 |
Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Episodic vomiting, Secretory diarrhea, Enterocolitis |
OMIM:616050 |
Meconium Ileus |
|
Chronic diarrhea, Meconium ileus |
OMIM:614665 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent viral infections, Diarrhea, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneou... |
OMIM:102700 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose... |
OMIM:219090 |
Cronkhite-Canada Syndrome |
|
Diarrhea, Anorexia, Abdominal pain |
ORPHA:2930 |
Hyper-Igd Syndrome |
|
Abdominal pain, Diarrhea, Chronic diarrhea, Recurrent infections, Vomiting, Chronic oral candidiasis |
OMIM:260920 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Cardiomegaly, Synophrys, Hirsutism, Low posterior hairline, Disproportionate t... |
ORPHA:2463 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Poor appetite, Recurrent candida infections |
OMIM:201100 |
Selective Igm Deficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Recurrent staphylococcal in... |
ORPHA:331235 |
Yao Syndrome |
|
Diarrhea, Xerostomia, Abdominal pain |
OMIM:617321 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent viral infections, Chronic diarrhea, Recurrent bacteri... |
OMIM:606367 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology, Abnormal aorti... |
ORPHA:261197 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent... |
OMIM:600802 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Chronic diarrhea |
ORPHA:47 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology, Left atrial enlargement, Myocarditis, Dilat... |
ORPHA:563 |
Congenital Disorder Of Glycosylation, Type Id |
|
Diarrhea, Vomiting |
OMIM:601110 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Synophrys, Tics, Compulsive behaviors, Hepatic steatosis, Abnormal repetit... |
OMIM:619475 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
Ethylmalonic Encephalopathy |
|
Diarrhea |
ORPHA:51188 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
American Trypanosomiasis |
|
Diarrhea, Achalasia, Abnormal large intestine physiology, Abdominal pain |
ORPHA:3386 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Situs inversus totalis, Obesity, Hypogonadism, Polydipsia |
OMIM:615994 |
Adiposis Dolorosa |
|
Constipation, Xerostomia, Diarrhea |
ORPHA:36397 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Failu... |
OMIM:229600 |
Boutonneuse Fever |
|
Diarrhea, Nausea, Abdominal pain |
ORPHA:83313 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Coarse hair, Overgrowth |
OMIM:605309 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Diarrhe... |
ORPHA:221139 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Intermittent diarrhea, Recurrent lower respiratory tract infections, Recur... |
OMIM:619644 |
Autoinflammatory-Pancytopenia Syndrome |
|
Chronic diarrhea, Intestinal inflammation |
OMIM:619858 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Biliary tract abnormality,... |
OMIM:209900 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Abdominal cramps, Decreased live... |
ORPHA:98850 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Hypoglycemia, Bicuspid aortic valve, Mitral atresia, Increased hepatocellular li... |
OMIM:220111 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Recurrent pneumonia, Chronic diarrhea, Seps... |
OMIM:614700 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Limb joint contracture, N... |
ORPHA:404454 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Small for gestational age, Portal h... |
OMIM:613658 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Bloom Syndrome |
|
Small for gestational age, Hepatic steatosis, Type II diabetes mellitus, Hypertrichosis |
OMIM:210900 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Fun... |
ORPHA:90051 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Obesity, Facial hirsutism, Increased serum testosteron... |
ORPHA:247768 |
Avian Influenza |
|
Diarrhea, Vomiting, Sepsis, Abdominal pain |
ORPHA:454836 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Dysphagia, A... |
OMIM:608013 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Bowel ... |
ORPHA:100079 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea |
ORPHA:2290 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Ch... |
OMIM:300755 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Vomiting |
OMIM:560000 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Gastroe... |
ORPHA:85450 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... |
OMIM:614098 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Recurrent infections |
OMIM:300953 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation |
OMIM:608654 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha... |
ORPHA:3157 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Poor appetite |
ORPHA:2221 |
Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea |
OMIM:619849 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Pancreatoblastoma, Pancreati... |
ORPHA:99889 |
Satoyoshi Syndrome |
|
Diarrhea |
OMIM:600705 |
Mogs-Cdg |
|
Hepatomegaly, Atrial septal defect, Alopecia, Fair hair, Cardiomegaly, Hepatosplenomegaly, Long e... |
ORPHA:79330 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Dysphagia |
ORPHA:1332 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Diarrhea, Vomiting, Nausea, Poor appetite |
ORPHA:542323 |
Immunodeficiency 55 |
|
Diarrhea, Recurrent infections |
OMIM:617827 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture of finger, Hypertriglyceridemia,... |
OMIM:256040 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Hip contracture, Large for gestational age, Microvesicular hepatic steatosis, Birth... |
OMIM:300868 |
Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence |
ORPHA:330001 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Synophrys, Flexion contracture, Knee flexi... |
OMIM:619503 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent opportunistic infections,... |
ORPHA:35078 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Alg8-Cdg |
|
Diarrhea, Vomiting, Feeding difficulties |
ORPHA:79325 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Diarrhea, Hepatic failure, Steatorrhea |
OMIM:607765 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Pan... |
OMIM:130650 |
Shwachman-Diamond Syndrome 2 |
|
Exocrine pancreatic insufficiency, Diarrhea, Steatorrhea, Recurrent infections |
OMIM:617941 |
Digeorge Syndrome |
|
Inguinal hernia, Parathyroid agenesis, Ventricular septal defect, Decreased circulating parathyro... |
OMIM:188400 |
Immunodeficiency 31C |
|
Recurrent respiratory infections, Diarrhea, Chronic mucocutaneous candidiasis, Recurrent infectio... |
OMIM:614162 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Recurrent respiratory infections, Nausea and vomiting, Gastrointestinal he... |
ORPHA:36426 |
Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Sepsis, Constipation |
ORPHA:199299 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Chronic diarrhea, Sepsis, Recurrent bacterial infections, Gas... |
OMIM:617053 |
Ppoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertro... |
OMIM:616897 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
ORPHA:247598 |
Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea |
OMIM:301500 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Vomiting, Steatorrhea |
ORPHA:92050 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Diarrhea, Hepatic failure, Steatorrhea |
OMIM:613812 |
Immunodeficiency 59 And Hypoglycemia |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Sepsis, Recurrent aphthous stomat... |
OMIM:233600 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Recurrent pneumonia, Bloody diarrhea, Hematochezia, Recurrent infections, Inflammation of the lar... |
OMIM:617718 |
B4Galt1-Cdg |
|
Diarrhea |
ORPHA:79332 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Chronic diarrhea, Abdominal pain |
OMIM:617099 |
Kaposi Sarcoma |
|
Diarrhea |
ORPHA:33276 |
Cushing Disease |
|
Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Impa... |
ORPHA:96253 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Abdominal pain, Diarrhea, Peritonitis, Sepsis, Vomiting, Nausea |
ORPHA:36234 |
Relapsing Fever |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:91547 |
Wiskott-Aldrich Syndrome |
|
Hematemesis, Diarrhea, Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis,... |
OMIM:301000 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Contractures of ... |
ORPHA:324410 |
Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain |
ORPHA:100093 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea |
ORPHA:411703 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Abdominal pain |
OMIM:106100 |
Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... |
ORPHA:96149 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... |
ORPHA:3455 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Synophrys, Obesity, Hepatosp... |
OMIM:301066 |
Microscopic Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Peritonitis, Gastroin... |
ORPHA:727 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Diarrhea, Atrophic gastritis, Chronic mucocutaneous candidiasis, Chronic oral candidiasis |
OMIM:240300 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea |
OMIM:601847 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly |
OMIM:618798 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Highly arched eyebrow, Cardiomegaly, ... |
OMIM:618143 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Omenn Syndrome |
|
Chronic diarrhea, Sepsis |
ORPHA:39041 |
Arima Syndrome |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis |
OMIM:243910 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Diarrhea |
OMIM:211600 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Hypothyroidism, Hepatitis, Weight loss, Hypertr... |
OMIM:615846 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Chronic diarrhea, Feeding difficulties, Steatorrhea |
ORPHA:2176 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stomatitis, Steatorr... |
OMIM:212750 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Recurrent infections |
OMIM:614576 |
Mucopolysaccharidosis, Type Ii |
|
Recurrent otitis media, Diarrhea, Recurrent pneumonia, Intestinal pseudo-obstruction |
OMIM:309900 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Hyperactivity, Inguinal hernia, Thick hair, Aggressive behavior, Cardiomegaly, Hype... |
ORPHA:581 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea |
OMIM:619484 |
Mevalonic Aciduria |
|
Diarrhea, Vomiting, Recurrent infections |
OMIM:610377 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Functional intestinal obstruction, Intestinal pseudo-obstruction, Poor appet... |
ORPHA:1333 |
Congenital Myopathy 20 |
|
Chronic diarrhea |
OMIM:620310 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation |
OMIM:105210 |
Hereditary Angioedema Type 1 |
|
Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea |
ORPHA:100050 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Recurrent pneumonia, Colitis |
OMIM:301220 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... |
ORPHA:1517 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea |
OMIM:608643 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, Cardiomegaly |
OMIM:619259 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Abdominal pain |
ORPHA:54251 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Chronic diarrhea, Hematochezia, Recurrent bacterial infections, Inflammation of t... |
OMIM:615895 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Hepatic steatosis, Joint contracture of the 5th finger, Attention deficit hyperactiv... |
OMIM:619934 |
Hutchinson-Gilford Progeria Syndrome |
|
Dystrophic fingernails, Absent eyebrow, Insulin resistance, Absence of subcutaneous fat, Patchy a... |
ORPHA:740 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Familial Mediterranean Fever |
|
Abdominal pain, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipation, Vomiting, C... |
OMIM:249100 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Recurrent otitis media... |
OMIM:620233 |
Somatostatinoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Recurrent pharyngitis, Diarrhea, Peritonitis, Constipatio... |
ORPHA:32960 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Diarrhea, Anorexia, Recurrent infections |
ORPHA:33226 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Left ven... |
ORPHA:308552 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Enterocolitis, Bloody diarrhea, Hematoc... |
OMIM:243150 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Precocious puberty, ... |
OMIM:270400 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting |
ORPHA:3240 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Feeding difficulties in infancy, Chronic diarrhea, Gastroesopha... |
OMIM:613385 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Cardiomegaly |
OMIM:613320 |
Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97280 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Sepsis |
OMIM:602450 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Increased circulating... |
ORPHA:90041 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Hypercholesterolemia |
ORPHA:86816 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... |
OMIM:203700 |
Joubert Syndrome 8 |
|
Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea |
OMIM:614328 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... |
ORPHA:309031 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Neonatal hypoglycemia, ... |
ORPHA:116 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
Grfoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:93552 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Diarrhea, Feeding difficulties |
ORPHA:427 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:615356 |
Systemic Capillary Leak Syndrome |
|
Diarrhea, Abdominal pain |
ORPHA:188 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea |
OMIM:602347 |
Sandhoff Disease |
|
Hepatomegaly, Abnormal glycosphingolipid metabolism, Cardiomegaly, Hepatosplenomegaly |
OMIM:268800 |
Carney Triad |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea |
ORPHA:139411 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea |
ORPHA:100085 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Abdominal pain, Diarrhea, Inflammation of the large intestine... |
ORPHA:29207 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Diarrhea |
OMIM:242860 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Abdominal pain |
OMIM:174900 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation, Recurrent acute respirator... |
ORPHA:95409 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia, Thick eyebrow, Hypertrichosis |
OMIM:616260 |
Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia, Recurrent otitis media, Tube f... |
OMIM:252940 |
Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting |
ORPHA:173 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Flexion contracture, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis |
OMIM:619321 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Gastritis, Ileus, Secretory diarrhea, Sepsis, Recurrent infecti... |
ORPHA:37042 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Curly hair, Right ventricular cardiomyopathy... |
OMIM:601214 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Hernia, Failure to thrive, Thick e... |
OMIM:230000 |
Acute Radiation Syndrome |
|
Diarrhea, Vomiting |
ORPHA:454831 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritability, Recurrent infections, Colitis,... |
OMIM:619381 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Diarrhea, Anorexia, Abdominal pain |
ORPHA:3452 |
Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Congenital alopecia totalis, Camp... |
ORPHA:158687 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hypoplasia of the thymus |
OMIM:617022 |
Cystic Fibrosis |
|
Meconium ileus, Recurrent bronchopulmonary infections, Diarrhea, Recurrent pneumonia, Ileus, Stea... |
OMIM:219700 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Diarrhea, Episodic vomiting, Vomiting |
OMIM:618321 |
Serotonin Syndrome |
|
Diarrhea, Hepatic failure, Nausea |
ORPHA:43116 |
Biotinidase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:253260 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Recurr... |
OMIM:251260 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Intermittent diarrhea, Diarrhea, Constipation, Feeding difficulties |
OMIM:618050 |
Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... |
ORPHA:2131 |
Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Vomiting |
OMIM:610768 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea |
ORPHA:324636 |
Riddle Syndrome |
|
Abdominal pain, Recurrent viral infections, Diarrhea, Recurrent pneumonia, Recurrent sinusitis |
ORPHA:420741 |
Houge-Janssens Syndrome 1 |
|
Chronic diarrhea |
OMIM:616355 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Abdominal pain |
OMIM:256700 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Recurrent gastroenteritis, Bloody diarrhea |
ORPHA:294023 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea |
OMIM:614441 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Dysphagia |
ORPHA:268 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Glycogen accumulation in muscle fiber lysosomes, Cardiomegaly, Elevated circulating... |
ORPHA:365 |
Lujo Hemorrhagic Fever |
|
Fulminant hepatitis, Odynophagia, Diarrhea, Abdominal cramps, Vomiting, Dysphagia, Nausea |
ORPHA:319213 |
Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Pancreatic islet-cell h... |
OMIM:267000 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis |
OMIM:158310 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Multiple joint contractures, Lipoatrophy, Cardi... |
ORPHA:51 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Per... |
ORPHA:342 |
Rat-Bite Fever |
|
Diarrhea, Vomiting, Sepsis, Parotitis |
ORPHA:31205 |
Transcobalamin Ii Deficiency |
|
Diarrhea, Vomiting |
OMIM:275350 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Hypogonadotropic hypogo... |
ORPHA:79318 |
Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Anorexia |
ORPHA:134 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Impulsivity, Cardiomega... |
OMIM:300967 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Acute colitis |
ORPHA:90038 |
Bronchial Neuroendocrine Tumor |
|
Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Hepatic failure |
ORPHA:97287 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Diarrhea |
OMIM:619313 |
Infection-Related Hemolytic Uremic Syndrome |
|
Abdominal pain, Diarrhea, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions, Vomi... |
ORPHA:544482 |
Carney Complex |
|
Neoplasm of the pancreas, Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Fol... |
ORPHA:1359 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Abdominal pain, Hematemesis, Diarrhea, Peritonitis, Enter... |
ORPHA:73263 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux,... |
ORPHA:500055 |
Turcot Syndrome With Polyposis |
|
Abdominal pain, Diarrhea, Hematochezia, Melena, Constipation, Vomiting, Nausea |
ORPHA:99818 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Chronic diarrhea, Recurrent infections |
OMIM:601675 |
Refractory Celiac Disease |
|
Chronic diarrhea, Malnutrition, Abdominal pain |
ORPHA:398063 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... |
OMIM:245600 |
Ileal Neuroendocrine Tumor |
|
Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abdominal pain, Intermi... |
ORPHA:100078 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Obesity, Atrial septal defect, Male hypogona... |
OMIM:619471 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Diarrhea, Recurrent upper respiratory tract infections, Enteroc... |
ORPHA:391487 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Secretory diarrhea |
OMIM:270420 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspi... |
ORPHA:3427 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficulties |
OMIM:618183 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Inguinal hernia, Brittle hair, Cardiomegaly, Sparse eyebrow, Splenomegaly, Camptoda... |
OMIM:252500 |
Trichohepatoneurodevelopmental Syndrome |
|
Chronic diarrhea, Recurrent infections, Feeding difficulties, Gastroesophageal reflux, Decreased ... |
OMIM:618268 |
Pearson Marrow-Pancreas Syndrome |
|
Anorexia, Chronic diarrhea, Recurrent infections, Vomiting, Steatorrhea, Hepatic failure, Exocrin... |
OMIM:557000 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Enlarged kidney, Increased myocardial glycogen content, Biven... |
OMIM:261740 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Hematochezia, Melena, Intestinal bleeding |
ORPHA:79076 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Melas |
|
Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiting, Constipation |
ORPHA:550 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Microsporidiosis |
|
Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Sepsis, Vomiting, Bronchiolitis, Intermi... |
ORPHA:2552 |
Colchicine Poisoning |
|
Diarrhea, Vomiting, Nausea |
ORPHA:31824 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Chronic diarrhea, Recurrent infection of the gastrointestinal t... |
OMIM:612132 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Episodic abdominal pain, Hematoche... |
ORPHA:913 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Farber Disease |
|
Chronic diarrhea, Hepatic failure, Recurrent upper respiratory tract infections, Feeding difficul... |
ORPHA:333 |
Listeriosis |
|
Abdominal pain, Diarrhea, Peritonitis, Sepsis, Vomiting, Nausea |
ORPHA:533 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Synophrys, Bilateral wrist flexion contracture, Congenital contracture, Abnormal ca... |
ORPHA:97297 |
Leukocyte Adhesion Deficiency Type Ii |
|
Recurrent urinary tract infections, Recurrent pneumonia, Chronic diarrhea, Recurrent infections, ... |
ORPHA:99843 |
Japanese Encephalitis |
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Diarrhea, Vomiting, Anorexia, Abdominal pain |
ORPHA:79139 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Chronic diarrhea, Ileus |
OMIM:304790 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Failure to thrive |
ORPHA:137675 |
Developmental And Epileptic Encephalopathy 50 |
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Diarrhea, Dysphagia |
OMIM:616457 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
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Intractable diarrhea |
OMIM:226730 |
Secondary Intestinal Lymphangiectasia |
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Abdominal colic, Intestinal obstruction, Chronic diarrhea, Recurrent infections, Intestinal bleed... |
ORPHA:90363 |
Immunodeficiency 92 |
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Chronic diarrhea, Esophagitis |
OMIM:619652 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Diarrhea, Nausea, Abdominal pain |
ORPHA:98849 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Diarrhea, Malnutrition |
ORPHA:96180 |
Plague |
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Anorexia, Abdominal pain, Hematemesis, Diarrhea, Sepsis, Enterocolitis, Bloody diarrhea, Inflamma... |
ORPHA:707 |
Lysinuric Protein Intolerance |
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Protein avoidance, Diarrhea, Malnutrition, Vomiting, Nausea |
OMIM:222700 |
Glycogen Storage Disease Ii |
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Increased muscle glycogen content, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Familial Gestational Hyperthyroidism |
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Diarrhea |
ORPHA:99819 |
Danon Disease |
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Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Inguinal hernia, Bicuspid aortic valve, Cardiomegaly, Abnormality of connective tissue, Tall stature |
ORPHA:91387 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly |
OMIM:618886 |
Syndromic Diarrhea |
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Gastritis, Bloody diarrhea, Recurrent infections, Colitis, Intractable diarrhea, Dependency on in... |
ORPHA:84064 |
Dominant Beta-Thalassemia |
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Diarrhea, Feeding difficulties |
ORPHA:231226 |
Diarrhea 1, Secretory Chloride, Congenital |
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Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Primary Intestinal Lymphangiectasia |
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Chronic diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal pain |
ORPHA:90362 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
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Secretory diarrhea |
OMIM:167100 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Diarrhea |
ORPHA:424 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Recurrent respiratory infections, Pancolitis, Eosinophilic infiltration of the esophagus, Bloody ... |
OMIM:618213 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
Distal Renal Tubular Acidosis |
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Diarrhea, Constipation, Vomiting, Poor appetite |
ORPHA:18 |
Mitchell-Riley Syndrome |
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Diarrhea |
OMIM:615710 |
Cockayne Syndrome Type 1 |
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Diarrhea |
ORPHA:90321 |
Cerebrotendinous Xanthomatosis |
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Pseudobulbar paralysis, Diarrhea |
OMIM:213700 |
Dubowitz Syndrome |
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Feeding difficulties in infancy, Chronic diarrhea, Recurrent infections, Gastroesophageal reflux,... |
OMIM:223370 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Diarrhea |
OMIM:235400 |
Lysinuric Protein Intolerance |
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Diarrhea, Feeding difficulties, Recurrent bacterial infections, Vomiting, Steatorrhea, Hepatic fa... |
ORPHA:470 |
Kawasaki Disease |
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Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Abdominal pain |
ORPHA:2331 |
Hurler Syndrome |
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Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties |
ORPHA:93473 |
Acrodermatitis Enteropathica |
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Chronic diarrhea, Poor appetite, Anorexia |
ORPHA:37 |
Multiple Endocrine Neoplasia, Type Iib |
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Diarrhea, Constipation |
OMIM:162300 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
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Chronic diarrhea, Feeding difficulties, Dysphagia |
OMIM:620358 |
Chronic Graft Versus Host Disease |
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Anorexia, Abdominal pain, Diarrhea, Xerostomia, Recurrent infections, Gastroesophageal reflux, Dy... |
ORPHA:99921 |
Hemorrhagic Fever-Renal Syndrome |
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Abdominal pain, Hematemesis, Diarrhea, Melena, Vomiting, Nausea |
ORPHA:340 |
Rothmund-Thomson Syndrome Type 1 |
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Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding |
ORPHA:221008 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Abdominal distention, Recurrent abscess formation, Bloody diarrhea |
ORPHA:436252 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Beta-Thalassemia Major |
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Diarrhea, Feeding difficulties |
ORPHA:231214 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena |
ORPHA:464321 |
Addison Disease |
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Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation |
ORPHA:85138 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Chronic diarrhea |
ORPHA:457279 |
Rothmund-Thomson Syndrome |
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Nasogastric tube feeding in infancy, Diarrhea, Vomiting |
ORPHA:2909 |
Rothmund-Thomson Syndrome Type 2 |
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Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding |
ORPHA:221016 |
Alg9-Cdg |
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Gastroesophageal reflux, Diarrhea, Vomiting |
ORPHA:79328 |
Multiple Endocrine Neoplasia, Type I |
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Diarrhea, Esophagitis |
OMIM:131100 |
Congenital Tracheomalacia |
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Failure to thrive, Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous re... |
ORPHA:95430 |
Malakoplakia |
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Diarrhea, Abdominal pain |
ORPHA:556 |
Wiskott-Aldrich Syndrome |
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Recurrent respiratory infections, Hematemesis, Chronic diarrhea, Sepsis, Hematochezia, Inflammati... |
ORPHA:906 |
Mednik Syndrome |
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Diarrhea |
OMIM:609313 |
Vipoma |
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Nausea and vomiting, Poor appetite, Anorexia, Secretory diarrhea, Episodic abdominal pain, Hemato... |
ORPHA:97282 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... |
ORPHA:3384 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Cardiomegaly |
OMIM:620306 |
Multiple Endocrine Neoplasia Type 1 |
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Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Gastroesophageal reflux, Vomiting, Const... |
ORPHA:652 |
Ataxia-Telangiectasia |
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Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent bronchitis |
OMIM:208900 |
Williams Syndrome |
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Bicuspid aortic valve, Cardiomegaly, Compulsive behaviors, Atrial septal defect, Hypothyroidism, ... |
ORPHA:904 |
Nijmegen Breakage Syndrome |
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Recurrent sinopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections, Chroni... |
ORPHA:647 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Chronic diarrhea, Recurrent pneumonia, Sepsis |
ORPHA:158668 |
Peutz-Jeghers Syndrome |
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Abdominal pain, Intestinal bleeding, Bloody diarrhea |
OMIM:175200 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Chronic diarrhea |
OMIM:613989 |
Marburg Hemorrhagic Fever |
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Anorexia, Abdominal pain, Odynophagia, Diarrhea, Bloody diarrhea, Vomiting, Nausea |
ORPHA:99826 |
Dubowitz Syndrome |
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Chronic diarrhea, Recurrent infections |
ORPHA:235 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Cocaine Intoxication |
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Abdominal pain, Bloody diarrhea, Gastrointestinal infarctions, Colitis, Vomiting, Nausea |
ORPHA:90068 |
Multiple Endocrine Neoplasia Type 2 |
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Abdominal distention, Diarrhea, Constipation |
ORPHA:653 |
Diamond-Blackfan Anemia 21 |
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Chronic diarrhea |
OMIM:620072 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Chronic constipation, Chronic diarrhea |
OMIM:619005 |
Glycogen Storage Disease Ia |
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Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
Sapho Syndrome |
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Inflammation of the large intestine, Chronic diarrhea, Steatorrhea, Abdominal pain |
ORPHA:793 |
Idiopathic Hypereosinophilic Syndrome |
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Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,... |
ORPHA:3260 |
Gitelman Syndrome |
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Nausea and vomiting, Diarrhea, Constipation, Abdominal pain |
ORPHA:358 |
Crimean-Congo Hemorrhagic Fever |
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Nausea and vomiting, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Hepatic failure, Pa... |
ORPHA:99827 |
Hellp Syndrome |
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Elevated hepatic transaminase, Increased body weight |
ORPHA:244242 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
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Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux |
ORPHA:3164 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Xerostomia, Sepsis, Gastroin... |
ORPHA:95455 |
Deeah Syndrome |
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Chronic constipation, Chronic diarrhea, Dysphagia, Exocrine pancreatic insufficiency |
OMIM:619004 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... |
ORPHA:75565 |
Leukocyte Adhesion Deficiency |
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Peritonitis, Nail dystrophy, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Bartter Syndrome, Type 1, Antenatal |
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Constipation, Vomiting, Diarrhea |
OMIM:601678 |
Scorpion Envenomation |
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Diarrhea, Vomiting, Abdominal pain |
ORPHA:466677 |
Yellow Fever |
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Abdominal pain, Hematemesis, Diarrhea, Vomiting, Nausea |
ORPHA:99829 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Trichohepatoenteric Syndrome 1 |
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Intractable diarrhea, Hepatic failure |
OMIM:222470 |
Bartter Syndrome, Type 2, Antenatal |
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Constipation, Vomiting, Diarrhea |
OMIM:241200 |
Acute Liver Failure |
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Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea |
ORPHA:90062 |
Chikungunya |
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Diarrhea, Vomiting |
ORPHA:324625 |
Homozygous Familial Hypercholesterolemia |
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Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis, Myocardial steatosis |
ORPHA:391665 |
Mucopolysaccharidosis Type 2, Severe Form |
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Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:217085 |
Mucopolysaccharidosis Type 2 |
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Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:580 |
Lipodystrophy, Familial Partial, Type 7 |
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Diarrhea, Feeding difficulties, Vomiting, Dysphagia |
OMIM:606721 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:217093 |
Proximal Renal Tubular Acidosis |
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Diarrhea, Vomiting |
ORPHA:47159 |
Yunis-Varon Syndrome |
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Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Cardiomegaly, Sparse eyebrow, Car... |
ORPHA:3472 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, R... |
ORPHA:500150 |
Leptospirosis |
|
Nausea and vomiting, Diarrhea, Anorexia, Abdominal pain |
ORPHA:509 |
Aspartylglucosaminuria |
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Recurrent respiratory infections, Diarrhea |
OMIM:208400 |
Zttk Syndrome |
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Feeding difficulties in infancy, Chronic diarrhea, Feeding difficulties |
OMIM:617140 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Failure to thrive in infancy, Adrenal calcification, Cardiomegaly, Peric... |
ORPHA:51608 |
Nmda Receptor Encephalitis |
|
Diarrhea, Vomiting |
ORPHA:217253 |
Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea |
ORPHA:909 |
Occipital Horn Syndrome |
|
Chronic diarrhea |
OMIM:304150 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:2929 |
African Trypanosomiasis |
|
Diarrhea, Vomiting, Nausea |
ORPHA:3385 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, High anterior hairline, Sub... |
OMIM:182250 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intermittent diarrhea, Feeding difficulties, Exocrine pancreatic insufficiency |
ORPHA:2255 |
Viss Syndrome |
|
Chronic gastritis, Abdominal distention, Chronic diarrhea, Feeding difficulties, Chronic constipa... |
OMIM:619472 |