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 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Recurrent infections |
OMIM:614102 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... |
ORPHA:71529 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Chronic intestinal candidiasis |
OMIM:269650 |
Immunodeficiency 19 |
|
Diarrhea, Recurrent respiratory infections, Recurrent otitis media |
OMIM:615617 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Central adrenal insufficiency, Decreased response to growth ... |
ORPHA:71526 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Recurrent otitis media, Recurrent... |
OMIM:613501 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... |
ORPHA:324575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia, Tall stature |
OMIM:618406 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... |
OMIM:617885 |
Diarrhea 6 |
|
Diarrhea, Abdominal pain |
OMIM:614616 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Lactose Intolerance, Adult Type |
|
Diarrhea, Flatulence, Abdominal pain |
OMIM:223100 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Excessive insu... |
ORPHA:276556 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal colic |
ORPHA:35122 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... |
OMIM:601820 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Diabetes mellitus, Insulin resistance,... |
ORPHA:79084 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hypogonadism, Obesity |
OMIM:614962 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Polyphagia, Hyperinsulinemia, Obesity |
ORPHA:369873 |
Macrosomia Adiposa Congenita |
|
Adrenocortical adenoma, Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, G... |
OMIM:612526 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Abnormal e... |
OMIM:614963 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Recurrent abscess formation, Recurrent lower respiratory tract infecti... |
OMIM:613860 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease, Intractable diarrhea, Recurrent Neisserial infections |
OMIM:609536 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Type II diabetes mellitus, Hyperinsulinemia, Cirr... |
OMIM:604367 |
Trehalase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal pain |
ORPHA:103909 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Polyphagia, Hypogonadism |
OMIM:617119 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Recurrent sinusitis, Recurrent infections, Recurrent aphthous stomatitis |
OMIM:613960 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... |
ORPHA:79085 |
Anal Sphincter Dysplasia |
|
Constipation, Diarrhea, Encopresis, Chronic constipation, Bowel incontinence |
OMIM:105563 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:608594 |
Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous cand... |
OMIM:608971 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia,... |
OMIM:615238 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Lipodystrophy,... |
OMIM:269700 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... |
ORPHA:435651 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... |
ORPHA:435660 |
Rabies |
|
Anorexia, Nausea and vomiting, Diarrhea, Recurrent pharyngitis |
ORPHA:770 |
Temple Syndrome |
|
Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormone stimulation t... |
ORPHA:254516 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Insulin resistance, Obesit... |
OMIM:615703 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Hypertrichosis,... |
ORPHA:528 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Polyphagia, Hypopigmentation of hair, Obesity |
ORPHA:177910 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Diabetes mellitus, Hepatic ste... |
OMIM:610717 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Complement Component 4B Deficiency |
|
Recurrent sinusitis, Recurrent pneumonia, Chronic diarrhea, Recurrent otitis media |
OMIM:614379 |
Myelolymphatic Insufficiency |
|
Recurrent viral infections, Recurrent bacterial infections |
OMIM:310350 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
ORPHA:363400 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:606762 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections |
OMIM:242870 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Hyperin... |
OMIM:151660 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent viral infections, Recurrent fungal infections, Recu... |
OMIM:611521 |
Immunodeficiency 48 |
|
Recurrent candida infections, Diarrhea, Recurrent respiratory infections |
OMIM:269840 |
Hemochromatosis, Type 4 |
|
Glucose intolerance, Hepatomegaly, Cirrhosis, Impaired glucose tolerance, Diabetes mellitus, Hepa... |
OMIM:606069 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine |
OMIM:616868 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... |
OMIM:619048 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Polyp... |
OMIM:275000 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Hypoglycemia, Elevated hepatic trans... |
OMIM:212140 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Hepatic ... |
OMIM:615980 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Increased circulating ... |
ORPHA:171706 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
5-Oxoprolinase Deficiency |
|
Vomiting, Diarrhea, Enterocolitis, Abdominal pain |
OMIM:260005 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Truncal obesity, Polyphagia, Obesity, Hyperglycemia |
OMIM:615986 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Large for gestational age, Truncal obesity |
OMIM:240900 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Diarrhea, Recurrent bronchitis, Recurrent pneumonia, Recurrent ot... |
OMIM:612692 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Generalized hirsutism, Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Hirschsprung Disease |
|
Constipation, Abdominal pain, Sepsis, Diarrhea, Intestinal obstruction, Nausea and vomiting, Func... |
ORPHA:388 |
Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Tall stature, Overgrowth, I... |
OMIM:300942 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Low anterior hairline, Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsoce... |
OMIM:616033 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting |
OMIM:610370 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia |
OMIM:616521 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea |
OMIM:618662 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Polyphagia, Hypopigmentation of hair |
ORPHA:411515 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Perlman Syndrome |
|
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Tall stature, Inguinal hernia, Femo... |
ORPHA:2849 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Diarrhea, Abdominal pain |
OMIM:222900 |
Cap Polyposis |
|
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Hematochezia, Atrophic gastritis |
ORPHA:160148 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Increased hepatic glycogen content... |
ORPHA:263455 |
Mandibuloacral Dysplasia |
|
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Spa... |
ORPHA:2457 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Bloody diarrhea, Ulcerative colitis |
OMIM:619398 |
6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia, Thick eyebrow |
ORPHA:171829 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent bronchiolitis, Diarrhea, Recurrent pneumonia, Vomiting |
OMIM:616069 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Cirrhosis, Generalized lipodystrophy, Acut... |
ORPHA:79086 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity |
ORPHA:791 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Failure to thrive, Hepatic steatosis, Cardiomyopathy |
ORPHA:26792 |
Dracunculiasis |
|
Nausea and vomiting, Diarrhea, Recurrent cutaneous abscess formation |
ORPHA:231 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Hypogonadism, Lipodystrophy, Hy... |
OMIM:615381 |
Diarrhea 9 |
|
Diarrhea |
OMIM:618168 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Chron... |
OMIM:619446 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Intestinal Dysmotility Syndrome |
|
Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased intestinal t... |
OMIM:620045 |
Schaaf-Yang Syndrome |
|
Thick eyebrow, Flexion contracture, Camptodactyly, Polyphagia, Arthrogryposis multiplex congenita... |
OMIM:615547 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Increased body w... |
ORPHA:2298 |
Pediatric-Onset Graves Disease |
|
Failure to thrive, Polydipsia, Graves disease, Hepatomegaly, Splenomegaly, Increased circulating ... |
ORPHA:525731 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hypertrichosis, Precocious puberty, Hyperinsulinemia, Small for gesta... |
OMIM:262190 |
Pparg-Related Familial Partial Lipodystrophy |
|
Generalized hirsutism, Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Cirrhosis, Maternal... |
ORPHA:79083 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal distention, Abdominal pain, Vomiting, Nausea, Chronic diarrhea |
ORPHA:103907 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Lipodys... |
ORPHA:2348 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Hypergonadotropic hypog... |
OMIM:606407 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Cd8 Deficiency, Familial |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189439 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Hyperlipidemia, Splenomegaly, Cirrhosis, Li... |
ORPHA:90970 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Immunodeficiency 22 |
|
Diarrhea, Recurrent respiratory infections |
OMIM:615758 |
Immunodeficiency 46 |
|
Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis, Chronic diarrhea |
OMIM:616740 |
Pick Disease Of Brain |
|
Polyphagia |
OMIM:172700 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Estrogen Resistance Syndrome |
|
Glucose intolerance, Hyperinsulinemia, Tall stature, Absence of pubertal development, Absence of ... |
ORPHA:785 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... |
ORPHA:79319 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hirsutism, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, ... |
OMIM:613327 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Atrial septal defect, Pulmonic stenosis, Cholestasis... |
OMIM:614300 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Hematochezia, I... |
ORPHA:209964 |
Ménétrier Disease |
|
Gastroesophageal reflux, Abdominal pain, Anorexia, Diarrhea, Vomiting, Helicobacter pylori infect... |
ORPHA:2494 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Severe failure ... |
OMIM:246200 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea, Recurrent respiratory infe... |
OMIM:615767 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98754 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dysphagia, Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Elevated hepatic transa... |
OMIM:600649 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:98793 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Fine hair, Diabetes ... |
ORPHA:181393 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:619386 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177904 |
Frontotemporal Dementia |
|
Polyphagia |
OMIM:600274 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Sparse hair, Flexion contracture, Alopecia... |
OMIM:608612 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated hepatic transaminase, Transient hyperlipidemia, ... |
OMIM:255120 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Precocious puberty, Decreased circulating T4 concentration, Central adrenal in... |
ORPHA:177901 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut... |
ORPHA:280365 |
Cebalid Syndrome |
|
Polyphagia, Highly arched eyebrow, Thick eyebrow, Congenital diaphragmatic hernia |
OMIM:618774 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189427 |
Man1B1-Cdg |
|
Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Polyphagia, Long eyelashes, Lon... |
ORPHA:397941 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Impaired glucose tolerance, Hypertriglyceridemia, Diabetes m... |
OMIM:610947 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive secondary to recurrent infections, Diarrhea, Recurrent opportunistic infections |
OMIM:601457 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, Diarrhea, Recurrent sinusitis, Recurrent bronchitis, Recurrent pn... |
OMIM:607594 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Diarrhea, Recurrent sinusitis, Recurrent bronchitis, Recurrent pn... |
OMIM:240500 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Failure to thrive, Hypopigmentation of hair, Dysphagia, Hypertrophic ca... |
ORPHA:70472 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Chronic oral candidiasis, Anorexia, Diarrhea, Protracted diarrhea, ... |
ORPHA:169160 |
Huntington Disease |
|
Decreased body mass index, Polyphagia, Weight loss, Choking episodes, Oral-pharyngeal dysphagia |
ORPHA:399 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Type II diabetes mellitus, Small pituit... |
ORPHA:398079 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Steatorrhea, Cholestasis, Polyphagia, Primary hypothyroidism, Weight loss, Cen... |
ORPHA:95427 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent infections, Chron... |
OMIM:614699 |
Lactase Deficiency, Congenital |
|
Diarrhea |
OMIM:223000 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth hormone st... |
OMIM:203800 |
Hyperostosis Frontalis Interna |
|
Increased circulating prolactin concentration, Obesity, Hypertrichosis, Diabetes mellitus |
OMIM:144800 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Recurrent infections |
OMIM:229050 |
Prader-Willi-Like Syndrome |
|
Failure to thrive, Abnormality of the endocrine system, Precocious puberty, Decreased circulating... |
ORPHA:398073 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Cachexia, Hypoglycemia, Elevated hepatic transaminase, Di... |
ORPHA:42 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Hypercholesterolemia, Elevated hepatic transaminase |
OMIM:616829 |
Complement Factor B Deficiency |
|
Recurrent meningococcal disease, Recurrent bacterial infections, Peritonitis |
OMIM:615561 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... |
OMIM:248370 |
Immunodeficiency 76 |
|
Recurrent bronchiolitis, Colitis, Recurrent pneumonia, Chronic diarrhea |
OMIM:619164 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent upper respiratory tract infections, Diarrhea, Recurrent opportunistic infections, Recur... |
ORPHA:277 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Hepatic failure, Recurrent sinusitis, Recurren... |
OMIM:615207 |
Ddost-Cdg |
|
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Hepatic ... |
ORPHA:300536 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Polyphagia, Delayed puberty, Obesity, Abnormal dental enamel morphology |
ORPHA:251004 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Atrial septal defect, Type II diabetes ... |
ORPHA:398069 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos... |
OMIM:256810 |
Luscan-Lumish Syndrome |
|
Hirsutism, Overgrowth, Polyphagia, Obesity, High anterior hairline |
OMIM:616831 |
Coproporphyria, Hereditary |
|
Diarrhea, Constipation, Vomiting, Abdominal pain |
OMIM:121300 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Steatorrhea, Cir... |
OMIM:602579 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cholestasis, ... |
ORPHA:370 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly |
ORPHA:2432 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism, Cardiomegaly |
ORPHA:88643 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Vomiting, Abdominal colic |
OMIM:615863 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Acute hepatic failure, Hypoketotic hypoglycemia... |
ORPHA:71212 |
Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Hypogonadism, Obesity, Diabe... |
OMIM:615981 |
Immunodeficiency 31C |
|
Diarrhea, Chronic mucocutaneous candidiasis, Recurrent respiratory infections |
OMIM:614162 |
2Q23.1 Microdeletion Syndrome |
|
Generalized hirsutism, Polyphagia, Highly arched eyebrow, Synophrys |
ORPHA:228402 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Recurrent infections |
OMIM:228600 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic... |
ORPHA:905 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Elevated circulating alanine aminotransferase concen... |
OMIM:261680 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Protracted diarrhea, Malnutrition |
OMIM:251850 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Hypoglycemic seizure... |
OMIM:231530 |
Carcinoma Of Esophagus |
|
Dysphagia, Obesity, Weight loss |
ORPHA:70482 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Colitis, Recurrent fungal infections, Recurrent bacterial infecti... |
OMIM:209920 |
Hemochromatosis, Type 1 |
|
Glucose intolerance, Testicular atrophy, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hypogon... |
OMIM:235200 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... |
OMIM:618805 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Gastritis, Abdominal pain, Pancolitis, Vomiting, Chronic diarrhea, Esophagitis |
OMIM:619079 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased body weight, Cholestasis, Hep... |
ORPHA:264580 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Polydipsia, Hypertrichosis, Ventricular septal defect, Preco... |
ORPHA:769 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Diarrhea, Recurrent infections, Recurrent pneumonia, Recurrent aphthous... |
OMIM:150550 |
Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Precocious puberty, Central adrenal insufficiency, Small pi... |
ORPHA:739 |
Seckel Syndrome 10 |
|
Glucose intolerance, Insulin resistance, Elevated circulating luteinizing hormone level, Elevated... |
OMIM:617253 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Anorexia, Diarrhea, Secretory diarrhea, Vomiting |
OMIM:600351 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Hypertriglycer... |
ORPHA:209902 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614582 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Nonketotic hypoglycemia, Hypertrophic... |
OMIM:201475 |
Primary Peritoneal Carcinoma |
|
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting |
ORPHA:168829 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Prader-Willi Syndrome |
|
Adrenal insufficiency, Abdominal obesity, Type II diabetes mellitus, Hyperinsulinemia, Precocious... |
OMIM:176270 |
Craniopharyngioma |
|
Enlarged pituitary gland, Type II diabetes mellitus, Central adrenal insufficiency, Hypogonadotro... |
ORPHA:54595 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Diarrhea, Recurrent urinary tract infections, Recurrent respiratory infections, Recurrent otitis ... |
OMIM:618495 |
Enterokinase Deficiency |
|
Diarrhea |
OMIM:226200 |
Central Precocious Puberty |
|
Premature thelarche, Isosexual precocious puberty, Overgrowth, Abnormality of secondary sexual ha... |
ORPHA:759 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hypothyroidism, Hypertriglyceridemia, Diabetes mellitus, Obesit... |
ORPHA:412 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
Reticular Dysgenesis |
|
Sepsis, Diarrhea, Recurrent respiratory infections |
ORPHA:33355 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Increased body weight, Hepatomegaly, Jaundice |
ORPHA:890 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Diarrhea, Recurrent infections, Nausea |
OMIM:615084 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Hirsutism, Low anterior hairline, Microvesicular hepatic steatosis, Hypoglycem... |
OMIM:220111 |
Immune Deficiency Disease |
|
Recurrent viral infections, Recurrent bacterial infections, Fulminant hepatitis |
OMIM:242850 |
Cog7-Cdg |
|
Diarrhea, Recurrent infections, Feeding difficulties |
ORPHA:79333 |
Trisomy 18P |
|
Polyphagia, Highly arched eyebrow |
ORPHA:1715 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Pituitary corticotropic cell adenoma, Hepatic steatosis |
OMIM:300270 |
Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... |
OMIM:616222 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent candida infections, Recurrent fungal infections, Recurr... |
ORPHA:572 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Vomiting, Steatorrhea |
OMIM:246700 |
Citrullinemia Type Ii |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Delayed menarche, Hepatocellular carcinoma, Decreased... |
ORPHA:247585 |
Familial Chylomicronemia Syndrome |
|
Failure to thrive, Decreased body weight, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Acute pan... |
ORPHA:444490 |
Erythroderma Desquamativum |
|
Diarrhea |
ORPHA:314 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting |
ORPHA:30925 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Primary hypercort... |
OMIM:615830 |
Diarrhea 12, With Microvillus Atrophy |
|
Secretory diarrhea, Abdominal distention, Vomiting, Dependency on parenteral nutrition |
OMIM:619445 |
Gangliocytoma |
|
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... |
ORPHA:251937 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypothyroidism, Elevated hepatic transaminase, Hypertriglyceridemia, Hypopitu... |
OMIM:619013 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Abdominal pain, Nausea |
ORPHA:79457 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Recurrent respiratory infections |
OMIM:264350 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Diarrhea, Recurrent respiratory infections |
ORPHA:90035 |
Chromosome 19P13.13 Deletion Syndrome |
|
Constipation, Abdominal pain, Feeding difficulties, Diarrhea, Vomiting |
OMIM:613638 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea |
OMIM:613217 |
Immunodeficiency 15B |
|
Chronic diarrhea |
OMIM:615592 |
Porphyria Cutanea Tarda |
|
Corneal scarring, Hypertrichosis, Hirsutism, Viral hepatitis, Periportal fibrosis, Chronic hepati... |
ORPHA:101330 |
Malonyl-Coa Decarboxylase Deficiency |
|
Constipation, Abdominal pain, Diarrhea, Vomiting, Chronic constipation |
OMIM:248360 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:369840 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis |
OMIM:614924 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Elevated hepatic transaminase, Cardio... |
OMIM:617713 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Gastroesophageal reflux, Malnutrition, Feeding difficulties |
OMIM:619971 |
Immunodeficiency 57 With Autoinflammation |
|
Diarrhea, Gastritis, Inflammation of the large intestine, Recurrent respiratory infections |
OMIM:618108 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Congenital Short Bowel Syndrome |
|
Abdominal distention, Steatorrhea, Projectile vomiting, Abnormal peristalsis, Vomiting, Decreased... |
OMIM:615237 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Increased body weight, Elevated hepatic transaminase, Ele... |
ORPHA:94086 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypothyroidism, In... |
OMIM:614450 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Hypertriglyceridemia, Elevated circulating alanine aminot... |
OMIM:603471 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Diarrhea, Nausea, Recurrent infections, Dysphagia, Poor appetite |
ORPHA:352447 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Diarrhea, Vomiting |
OMIM:239350 |
Aromatase Deficiency |
|
Generalized hirsutism, Type II diabetes mellitus, Hyperlipidemia, Eunuchoid habitus, Tall stature... |
ORPHA:91 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Hepatic failure, Hypoketotic hypoglycemia, Elevated hepatic transaminase, Ventricul... |
ORPHA:228305 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti... |
ORPHA:276 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hypoglycemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:201450 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... |
ORPHA:860 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis |
OMIM:601466 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Steatorrhea, Cholestasis,... |
ORPHA:79303 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent mycobacterial infections, Recurrent upper and lower respiratory tract infections, Colit... |
ORPHA:911 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Multiple joint contractures, Decreased serum testosterone concentration... |
ORPHA:2959 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyro... |
OMIM:616263 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Elevated hepatic transaminase, Long eyelashes, Synophrys, Failure to thrive in infa... |
OMIM:619064 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... |
ORPHA:1501 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Angelman Syndrome |
|
Precocious puberty in females, Fair hair, Delayed menarche, Polyphagia, Dysphagia, Obesity |
ORPHA:72 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Inguinal hernia, Membranous subvalvular aortic stenosis, Biliary tract... |
ORPHA:3191 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Elevated hepatic transaminase, Ventricular hyp... |
OMIM:212138 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Chronic mucocutaneous candid... |
OMIM:116920 |
Ebola Hemorrhagic Fever |
|
Melena, Abdominal pain, Sepsis, Diarrhea, Vomiting, Nausea, Dysphagia, Gastrointestinal hemorrhag... |
ORPHA:319218 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Small for... |
ORPHA:567983 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Diarrhea, Inflammation of the large intestine, Recurrent infections, ... |
OMIM:608809 |
Hemochromatosis Type 4 |
|
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis |
ORPHA:139491 |
Omenn Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Diarrhea, Recurrent viral infections |
OMIM:603554 |
Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia |
OMIM:615538 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent infection of the gastrointestinal tract, Abdominal pain, Recurrent bacterial infections... |
ORPHA:486 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Absent facial hair, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:2183 |
Hereditary Folate Malabsorption |
|
Gastroesophageal reflux, Anorexia, Diarrhea, Recurrent urinary tract infections, Nausea and vomit... |
ORPHA:90045 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum testosterone concentration,... |
ORPHA:465508 |
Isolated Agammaglobulinemia |
|
Sepsis, Diarrhea, Recurrent respiratory infections, Recurrent cutaneous abscess formation |
ORPHA:229717 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting |
ORPHA:83620 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Failure to thrive, Pancreatitis, Tall stature, Disproportionate tall stature, Inguinal hernia, Br... |
OMIM:236200 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Impaired glucose t... |
OMIM:615630 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Alopecia, Glycosuria, Abnormality of circulating leptin level, Hypogonadism, Wh... |
ORPHA:79474 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Hepatic failure, Chronic... |
OMIM:613489 |
19P13.12 Microdeletion Syndrome |
|
Generalized hirsutism, Precocious puberty, Atrial septal defect, Hyperlipidemia, Ventricular sept... |
ORPHA:254346 |
Severe Combined Immunodeficiency, X-Linked |
|
Recurrent fungal infections, Chronic oral candidiasis, Recurrent pneumonia, Chronic diarrhea |
OMIM:300400 |
Immunodeficiency 14B, Autosomal Recessive |
|
Colitis, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, Chronic d... |
OMIM:619281 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Obesity, Polyphagia |
OMIM:612469 |
Leprechaunism |
|
Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperinsuline... |
ORPHA:508 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Elevated hepatic transaminase, Jaundice, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation |
ORPHA:85447 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Cirrhosis, Hypogonadotropic hypogonadism, Cachexia, Macrovesicula... |
ORPHA:298 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent sinusitis, Recurrent pneumonia, Chronic diarrhea, Recur... |
OMIM:601495 |
Radiation Proctitis |
|
Sepsis, Diarrhea, Hematochezia, Intestinal obstruction, Tenesmus |
ORPHA:70475 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure |
ORPHA:75234 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... |
OMIM:619418 |
Cleft Lip/Palate With Characteristic Facies, Intestinal Malrotation, And Lethal Congenital Heart Disease |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Visceromegaly |
OMIM:601165 |
Neuroendocrine Tumor Of The Rectum |
|
Melena, Bowel urgency, Bloody diarrhea, Constipation, Abdominal pain, Hypoactive bowel sounds, La... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Melena, Bowel urgency, Bloody diarrhea, Constipation, Abdominal pain, Hypoactive bowel sounds, La... |
ORPHA:100082 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Diarrhea, Abdominal distention, Hematochezia |
ORPHA:103910 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting |
OMIM:231690 |
Glucose/Galactose Malabsorption |
|
Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea |
OMIM:606824 |
Monosomy 13Q34 |
|
Pulmonic stenosis, Common atrium, Horizontal eyebrow, Insulin resistance, Obesity, Hepatic steatosis |
ORPHA:96168 |
Halothane Hepatitis |
|
Obesity, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Ve... |
ORPHA:96121 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Adrenocorticotropic hormone deficiency, Hyperlipidemia, Decreased response to growth ... |
ORPHA:293987 |
Weaver Syndrome |
|
Joint contracture of the hand, Inguinal hernia, Sparse hair, Overgrowth, Camptodactyly, Polyphagi... |
OMIM:277590 |
Specific Granule Deficiency 2 |
|
Intractable diarrhea, Recurrent bacterial infections, Sepsis, Recurrent pneumonia, Recurrent otit... |
OMIM:617475 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Absence of pubertal development, Decreased circulating follicle stimulating hormone concentration... |
OMIM:619755 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
1P36 Deletion Syndrome |
|
Annular pancreas, Abnormal cardiac septum morphology, Failure to thrive, Abnormal eyebrow morphol... |
ORPHA:1606 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Recurrent respiratory infections, Chronic diarrhea, Recurrent otitis media |
OMIM:618523 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Mitral valve prolapse, Hypogonadism, Obesity, Low posterior hairline |
ORPHA:2233 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect, Fine hair, Polyphagia, Sparse hair |
ORPHA:251028 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral dermatomyositis syndrome, Pyoderma, Recurrent bacterial infections, Diarrhea, Recurre... |
OMIM:307200 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Fair hair, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:269920 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Sepsis, Diarrhea, Recurrent upper respiratory tract infections, Recurrent lower ... |
OMIM:616100 |
Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus, Congenital hepatic fibrosis |
ORPHA:2377 |
Botulism |
|
Constipation, Abdominal pain, Xerostomia, Diarrhea, Dysphagia, Nausea and vomiting |
ORPHA:1267 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Thick eyebrow, Polyphagia, Long eyelashes, Highly arched eyebrow, Low posterior hairline |
OMIM:156200 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia,... |
ORPHA:99901 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Acute pancreat... |
OMIM:619487 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Porphyria |
|
Constipation, Abdominal pain, Anorexia, Diarrhea, Nausea and vomiting |
ORPHA:738 |
Intestinal Botulism |
|
Diarrhea, Dysphagia, Nausea and vomiting, Xerostomia |
ORPHA:178481 |
Vascular Hyalinosis |
|
Diarrhea, Hematochezia |
OMIM:277175 |
Dpm1-Cdg |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Camptodactyly, Elevated hepatic transaminase... |
ORPHA:79322 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Pyoderma, Recurrent pneumonia, Chronic diarrhea, Recurrent... |
OMIM:242700 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, D... |
OMIM:611126 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Cardiomegaly |
OMIM:618838 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Feeding difficulties, Poor suck, Chronic diarrhea, Recurrent otitis media, Chronic constipation |
OMIM:617788 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly, Alopecia |
OMIM:275630 |
Alg1-Cdg |
|
Decreased liver function, Sepsis, Recurrent infections, Chronic diarrhea |
ORPHA:79327 |
Thymic Aplasia |
|
Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ... |
ORPHA:83471 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis |
ORPHA:209919 |
Fucosidosis |
|
Failure to thrive, Hepatomegaly, Lipoatrophy, Abnormality of the gallbladder, Hypothyroidism, Car... |
ORPHA:349 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate amino... |
OMIM:615486 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Hypoglycemia, Patent foramen oval... |
OMIM:601005 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Alopecia,... |
ORPHA:453533 |
Foodborne Botulism |
|
Constipation, Abdominal pain, Diarrhea, Xerostomia, Dysphagia, Nausea and vomiting |
ORPHA:228371 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis, Recurrent respiratory infections |
ORPHA:2575 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Sparse hair, Cardiomegaly |
OMIM:613576 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Jaundice, Cardiomegaly, Cardiac myxoma |
ORPHA:615 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism... |
OMIM:212065 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... |
ORPHA:71 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the thyroid gland, Type II diabetes mellitus, Eunuchoid habitus, Sparse body hair,... |
ORPHA:2234 |
Central Diabetes Insipidus |
|
Anorexia, Nausea and vomiting, Diarrhea |
ORPHA:178029 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Elevated circulating aspa... |
OMIM:608836 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Type II diabetes mellitus, Highly arched eyebrow, Dilated cardiomyopathy, ... |
ORPHA:401923 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Left ventricular hypertrophy, Hypoketotic hypoglycemia, Cholestasis, Failure ... |
ORPHA:746 |
Inhalational Botulism |
|
Diarrhea, Nausea and vomiting, Xerostomia, Constipation |
ORPHA:254504 |
Cortisone Reductase Deficiency 1 |
|
Obesity, Hirsutism, Precocious puberty, Alopecia |
OMIM:604931 |
Adnp Syndrome |
|
Sparse scalp hair, Hirsutism, Inguinal hernia, Truncal obesity, Polyphagia, Umbilical hernia, Hig... |
ORPHA:404448 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea |
ORPHA:29822 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Feeding difficulties, Recurrent upper respirat... |
ORPHA:263501 |
Autosomal Agammaglobulinemia |
|
Sepsis, Diarrhea, Recurrent infections, Recurrent respiratory infections |
ORPHA:33110 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Diarrhea, Colitis, Chronic diarrhea |
OMIM:614602 |
Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Obesity, Hypogonadism |
OMIM:615985 |
Galactosemia |
|
Feeding difficulties, Hepatic failure, Sepsis, Diarrhea, Vomiting |
ORPHA:352 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Recurrent sinopulmonary infections |
OMIM:618394 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Abdominal pain, Diarrhea, Vomiting, Intestinal obstruction, Recurrent infections |
OMIM:226300 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hyperlipidemia, Hepatomegaly, Hepatic failure, Hepatic calcification, Hypoketotic hypoglycemia, A... |
ORPHA:228308 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Neonatal hypoglycemia, Hypoglycemia, Elevated hepatic transaminase, Fasting hypogly... |
ORPHA:348 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds |
ORPHA:35710 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Brittle hair, Chol... |
OMIM:124000 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Gracile Syndrome |
|
Cirrhosis, Elevated hepatic iron concentration, Hepatic steatosis, Cholestasis |
ORPHA:53693 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Abdominal distention, Peritonitis, Diarrhea, Vomiting, Neonatal sepsis |
ORPHA:391673 |
Immunodeficiency 47 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... |
OMIM:300972 |
3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Dilated cardiomyopathy, Microvesicular hepatic steatosis |
OMIM:610198 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Chronic diarrhea |
OMIM:607271 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Congenital, generalized hypertri... |
OMIM:239850 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Hepatocellula... |
ORPHA:79240 |
Eosinophilic Gastroenteritis |
|
Abdominal pain, Steatorrhea, Diarrhea, Vomiting, Hematochezia, Dysphagia |
ORPHA:2070 |
Lassa Fever |
|
Abdominal pain, Sepsis, Diarrhea, Dysphagia, Nausea and vomiting |
ORPHA:99824 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Hypopl... |
ORPHA:699 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Bowel urgency, Bloody diarrhea, Abdominal pain, Hypoactive bowel sounds, Lack of bowel so... |
ORPHA:100080 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Episodic vomiting, Nausea |
ORPHA:100924 |
Immunodeficiency, Common Variable, 14 |
|
Recurrent sinusitis, Chronic diarrhea |
OMIM:617765 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Macrovesicular hepatic ste... |
OMIM:613070 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Polyphagia |
OMIM:607485 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Cardiomy... |
ORPHA:445038 |
Classic Galactosemia |
|
Feeding difficulties, Hepatic failure, Sepsis, Diarrhea, Vomiting |
ORPHA:79239 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Glycosuria, Hypoglycemia, Elevated hepatic transaminase, Large for gestational age,... |
OMIM:616026 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Feeding difficulties, Diarrhea, Vomiting, Nausea, Reye syndrome-like episodes, Poor appetite |
ORPHA:927 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... |
OMIM:300888 |
Mucopolysaccharidosis, Type Iiib |
|
Hirsutism, Hepatomegaly, Splenomegaly, Coarse hair, Synophrys, Asymmetric septal hypertrophy, Car... |
OMIM:252920 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hirsutism, Hypothyroidism,... |
ORPHA:77296 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Hypogonadism |
OMIM:619273 |
Wilson Disease |
|
Hypoparathyroidism, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic failure... |
OMIM:277900 |
Immunodeficiency 69 |
|
Diarrhea |
OMIM:618963 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent infections, Chronic diarrhea |
OMIM:619824 |
Visceral Myopathy 1 |
|
Abdominal distention, Constipation, Abdominal pain, Diarrhea, Vomiting, Malnutrition, Dysphagia, ... |
OMIM:155310 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Hepatomegaly, Cardiomyopathy |
OMIM:614922 |
Typhoid |
|
Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain |
ORPHA:99745 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity, Hypogonadotropic hypogonadism, Absence of pubertal development, Diabetes mellitus |
OMIM:610628 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Recurrent respiratory infections |
ORPHA:1842 |
Cutaneous Mastocytoma |
|
Diarrhea, Vomiting, Abdominal pain, Nausea |
ORPHA:79455 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Nasogastric tube feeding, Vomiting |
ORPHA:289504 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, Alopecia, Elevated hepatic transaminase, Hypertriglyceridem... |
ORPHA:98907 |
Alström Syndrome |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Hypergo... |
ORPHA:64 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Cardiomyopathy |
ORPHA:52430 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Diarrhea |
ORPHA:49827 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypertriglyceridemia, Synophrys, Hypercholesterolemia, Increase... |
OMIM:182290 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent candida infections, Recurrent upper respiratory tract infections, Recurrent lower respi... |
ORPHA:169154 |
Immunodeficiency 25 |
|
Recurrent candida infections, Protracted diarrhea, Recurrent pneumonia |
OMIM:610163 |
Rapadilino Syndrome |
|
Diarrhea |
OMIM:266280 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
Porphyria, Acute Intermittent |
|
Paralytic ileus, Constipation, Abdominal pain, Diarrhea, Vomiting, Nausea |
OMIM:176000 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Polydipsia, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physi... |
ORPHA:93111 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Abdominal cramps, Early satiety, Constipation, Abdominal pain, Diarrhea, Vomiting, Gastroparesis,... |
OMIM:603041 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Glycosuria, Diffuse hepatic steatosis,... |
ORPHA:436271 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
Mulibrey Nanism |
|
Myocardial fibrosis, Hepatomegaly, Enamel hypoplasia, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Benign Recurrent Intrahepatic Cholestasis |
|
Anorexia, Nausea and vomiting, Chronic diarrhea, Abdominal pain |
ORPHA:65682 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Congenital hypothyroidism, Large for gestational age, Ele... |
ORPHA:226313 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Overgrowth, Ventricular septal defect, Large for gestational age, Umbi... |
ORPHA:254534 |
Polycystic Ovary Syndrome 1 |
|
Obesity, Hirsutism, Enlarged polycys |