Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... |
OMIM:613490 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatos... |
OMIM:612526 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology |
ORPHA:2398 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Eczema, B lymphocytopenia, Type I diabetes mellitus, Erythroderma, Decreased proportion of CD4+CD... |
OMIM:606367 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Otitis media, Eczema, T lymphocytopenia, Chr... |
OMIM:608971 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Mandibuloacral Dysplasia |
|
High palate, Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lip... |
ORPHA:2457 |
Immunodeficiency 31C |
|
Lymphopenia, Eczema, Hypothyroidism, Villous atrophy, Chronic mucocutaneous candidiasis, Delayed ... |
OMIM:614162 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Generalized hirsutism, Reduced intraabdominal adipose tissue... |
ORPHA:363400 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Insulin resistance, Diabetes mellitus,... |
ORPHA:79084 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Hepatomegaly, Hypoxemia, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pulm... |
OMIM:612387 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Hirsutism, Hyperinsulinemia, Hepatomegaly, Failure to thrive, Flexion contracture, Splenom... |
OMIM:613327 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Uveitis, Type I diabetes mellitus, Pneumonia, Pancytopenia, Lymphadenopathy, C... |
OMIM:614700 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hypertrichosis, Low anterior hairline, Hepatomegaly, Hyperinsulinemia, Precoci... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hyperinsulinemia, Type II diabetes mellitus, Insu... |
OMIM:604367 |
Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Lipoatrophy, Lymphocytosis, Microscopic hematuria, Proteinuria, Insulin re... |
ORPHA:79087 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... |
OMIM:602579 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune ... |
ORPHA:1572 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Hematuria, Arthritis, Cough, ... |
ORPHA:36412 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypocalcemia, Hepatomegaly, Inflammatory abnormality of the skin, Hypoprote... |
ORPHA:26793 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Insulin... |
ORPHA:2348 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Eczema, Autoi... |
OMIM:304790 |
Pparg-Related Familial Partial Lipodystrophy |
|
Generalized hirsutism, Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistance,... |
ORPHA:79083 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonad... |
OMIM:212065 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Colitis, Hepatomegaly, Sparse hair, Woolly hair, Brittle hair, Small for gesta... |
OMIM:614602 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Malabsorption, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestina... |
ORPHA:95427 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Insulin resistance, Loss ... |
ORPHA:435660 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice |
ORPHA:60 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Whipple Disease |
|
Hydrocephalus, Polydipsia, Hepatomegaly, Myocarditis, Uveitis, Gastrointestinal hemorrhage, Peric... |
ORPHA:3452 |
Birt-Hogg-Dubé Syndrome |
|
Medullary thyroid carcinoma, Pulmonary sequestration, Parathyroid adenoma, Multiple lipomas, Emph... |
ORPHA:122 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Excessi... |
ORPHA:324575 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Insulin resistance, Decreased serum leptin, Lipodystrophy, Hypertri... |
ORPHA:79085 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hypocalcemia, Hepatomegaly, Alopecia, Splenomegaly, Abnormality of the small intes... |
ORPHA:100025 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, ... |
OMIM:615863 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Dandy-Walker malformation, Intestinal malrotation, Multicystic... |
ORPHA:3032 |
Syndromic Diarrhea |
|
Hepatomegaly, Hepatoblastoma, Gastritis, Abnormality of iron homeostasis, Peripheral pulmonary ar... |
ORPHA:84064 |
Idiopathic Bronchiectasis |
|
Reduced FEV1/FVC ratio, Cachexia, Crackles, Acute infectious pneumonia, Wheezing, Recurrent lower... |
ORPHA:60033 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Malabsorption, Sinusitis, Cellulitis, Otitis media, Skin rash, Abnormality of ... |
ORPHA:229717 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Right vent... |
ORPHA:70589 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Increased stool ... |
ORPHA:90362 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... |
OMIM:615381 |
Sarcoidosis |
|
Hepatomegaly, Hepatic failure, Alopecia, Maculopapular exanthema, Abnormal pleura morphology, Uve... |
ORPHA:797 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Cholestasis, Esophageal varix, Pancytopenia, Bile duct proliferation, Respiratory fa... |
OMIM:613658 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Recurrent bronchopulmonary infections, Apl... |
OMIM:242700 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Polycystic ov... |
OMIM:151660 |
Refractory Celiac Disease |
|
Malabsorption, Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Inflammatory abno... |
ORPHA:398063 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Villous atrophy, Respiratory tract infection, Bronch... |
OMIM:619445 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Hyperlipidemia, Splenomegaly, Insulin resis... |
ORPHA:90970 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Recurrent upper respiratory tract inf... |
OMIM:209920 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Cirrhosis, Emphysema, Portal hypertension, Hepatic failure |
OMIM:210050 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Alopecia, Acne, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue di... |
ORPHA:189439 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Omphalocele, Colonic atresia, Jejunal atresia, Recurrent respiratory infections, Ly... |
OMIM:243150 |
Netherton Syndrome |
|
Sparse scalp hair, Asthma, Malabsorption, Aminoaciduria, Sparse eyebrow, Sparse eyelashes, Skin r... |
ORPHA:634 |
Perlman Syndrome |
|
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Inguinal hernia, High, narrow palat... |
ORPHA:2849 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Alopecia universalis, Lipoatrophy, Sparse hair, Absent eyebrow, Hypertriglyceridemia, Abnormality... |
ORPHA:363618 |
Nocardiosis |
|
Keratitis, Respiratory distress, Lymphadenitis, Pneumonia, Pericarditis, Weight loss, Respiratory... |
ORPHA:31204 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lipodystrophy, Polycystic ovarie... |
ORPHA:280365 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, ... |
ORPHA:79086 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... |
ORPHA:435651 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... |
OMIM:619858 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Alopecia, Glycosuria, Abnormalit... |
ORPHA:2298 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Asthma, Hypokalemia, Microvesicular hepatic steatosis, Grade II vesicoureteral... |
OMIM:619377 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Chronic bronchitis, Hypoxemia, Nonproducti... |
ORPHA:79127 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... |
OMIM:610717 |
Immunodeficiency 48 |
|
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Pneumonia, Absence of CD8-p... |
OMIM:269840 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... |
OMIM:300635 |
Galactokinase Deficiency |
|
Increased level of galactitol in urine, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small ... |
ORPHA:79237 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Flexion contracture, Splenomegaly, Cough, Dysphagia, Abnormal... |
ORPHA:77260 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Nephrolithiasis, Hirsutism, Reduced intraabdominal adipose t... |
OMIM:608594 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Hepatomegaly, Uveitis, Enlarged lacrimal glands, Pancytopenia, Weight loss, Spleno... |
OMIM:181000 |
Cutis Laxa-Marfanoid Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Emphysema |
ORPHA:171719 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Eczema, B lymphocytopenia, Type I diabetes mellitus, Abnormality of the endocrine system, Inflamm... |
ORPHA:391487 |
Ddost-Cdg |
|
Failure to thrive, Gastroesophageal reflux, Nephrotic range proteinuria, Elevated hepatic transam... |
ORPHA:300536 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... |
OMIM:232700 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Lymphopenia, Recurrent respiratory infections, Eczema, T lymphocytopenia, Villous... |
OMIM:619510 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... |
OMIM:613101 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Excessive insu... |
ORPHA:276556 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Cough, Hypothyroidism, Elevated h... |
OMIM:619013 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Umbilical her... |
OMIM:269700 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Sparse scalp hair,... |
OMIM:248370 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... |
ORPHA:92050 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystr... |
OMIM:615238 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Cleft palate, Hepatic failur... |
OMIM:619573 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Congenital diaphragmatic hernia, Emphysema |
OMIM:614100 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hirs... |
ORPHA:189427 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... |
ORPHA:293964 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Adrenal calcification, Hypertriglyceridem... |
ORPHA:75234 |
Hypophosphatasia |
|
Respiratory insufficiency, Hypercalcemia, Emphysema, Anemia, Failure to thrive in infancy |
ORPHA:436 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, 3-Methylglutaric aciduria, Hepatic failure, Stea... |
OMIM:557000 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Hemophagocytosis, Maculopapular exanthema, Lipodystrophy, Pneumonia, J... |
ORPHA:39812 |
Immunodeficiency 51 |
|
Chronic furunculosis, Chronic oral candidiasis, Folliculitis, Recurrent cutaneous fungal infectio... |
OMIM:613953 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Apnea, Hepatomegaly, Left ventricular hypertrophy, Increased urine succinate l... |
OMIM:619048 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Alopecia, Hypergonadotropic hypogonadis... |
OMIM:203800 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Respiratory distress, Ketoti... |
ORPHA:26792 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Stomach cancer... |
ORPHA:125 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... |
ORPHA:79319 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Decreased prealbumin level, Cough, Wheezing, Recurrent aspiration pneumo... |
ORPHA:930 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Sparse hair, Hepatic failure, Abnormality of the pancreas, Cholestasis, Hypermethio... |
OMIM:222470 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Failure to thrive, Villous atrophy, Arthritis, Small for gestational age |
OMIM:613217 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymph... |
ORPHA:1414 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Hypoglycemia, Generalized aminoac... |
OMIM:606528 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Hypertrichosis, Increased fecal porphyrin, Decrease... |
ORPHA:101330 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Esophageal varix, Polycystic ovaries, Portal f... |
ORPHA:370 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Adrenal insufficiency, Adrenocorticotropic hormone deficiency, Decreased response to growth hormo... |
OMIM:609734 |
Temple Syndrome |
|
High palate, Recurrent otitis media, Hydrocephalus, Flexion contracture, Cleft palate, Maturity-o... |
OMIM:616222 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... |
OMIM:607765 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Pneumonia, W... |
OMIM:619381 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hypertrichosis, Hyperinsulinemia, Precocious puberty, Severe failure ... |
OMIM:246200 |
Mantle Cell Lymphoma |
|
Weight loss, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
H Syndrome |
|
Hypertrichosis, Hydrocephalus, Alopecia, Enlarged kidney, Lipodystrophy, Hypogonadism, Malabsorpt... |
ORPHA:168569 |
Netherton Syndrome |
|
Sparse scalp hair, Failure to thrive, Asthma, Intestinal atresia, Brittle hair, Sparse eyebrow, B... |
OMIM:256500 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Respiratory distress, Gastritis, Alopecia, Eczema, Decreased prealbumi... |
ORPHA:37042 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Failure to thrive, Joint contracture of the hand, Flexion contracture, Bifid uvula, ... |
OMIM:601110 |
Alg9-Cdg |
|
Asthma, Hypertrichosis, Hypoplasia of the ovary, Hepatomegaly, Periportal fibrosis, Gastroesophag... |
ORPHA:79328 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Hydrocephalus, Chylothorax, Renal angiomyolipoma, Dyspnea, Abnormality of... |
ORPHA:538 |
Emphysema, Hereditary Pulmonary |
|
Chronic pulmonary obstruction, Chronic bronchitis, Emphysema |
OMIM:130700 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Esophageal varix, Polycystic ovaries, Increase... |
ORPHA:264580 |
Pfapa Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Arthritis, Recurrent pharyngitis, Infectious encephali... |
ORPHA:42642 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
High palate, Hypertrichosis, Hypocalcemia, Hepatomegaly, Inguinal hernia, Splenomegaly, Hepatic f... |
OMIM:235255 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse hair, Lipodystrophy, Lack of facial subcutaneous fat,... |
OMIM:606721 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... |
ORPHA:913 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine... |
OMIM:619386 |
Immunodeficiency 14A, Autosomal Dominant |
|
Cellulitis, Splenomegaly, Recurrent sinopulmonary infections, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Skin rash, Splenomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pulmonary hypoplasia, Pneumonia... |
ORPHA:95430 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... |
OMIM:606069 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Lymphopenia, Intestinal atresia, Inflammation of the large intestine, Pulmonary hypoplasia, Knee ... |
OMIM:619708 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Sparse hair, Flexion contract... |
OMIM:608612 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Inguinal hernia, Urethral diverticulum, Respiratory insuffi... |
ORPHA:90349 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:619868 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubul... |
OMIM:618913 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Hirsutism, Joint contracture of the hand, Flexion contracture, Small for gesta... |
OMIM:214150 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Asthma, Elevated circulating C-reactive protein concentration, Pleural thickenin... |
OMIM:619632 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Acne, Primary hyp... |
OMIM:615830 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Multiple pulmonary cysts, Prolonged... |
OMIM:619418 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
Sandhoff Disease |
|
Failure to thrive, Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:796 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Alopecia, Increased proporti... |
OMIM:615559 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Bare Lymphocyte Syndrome, Type I |
|
Chronic otitis media, Bronchiolitis, Recurrent bronchitis, Chronic sinusitis, Emphysema, Bronchie... |
OMIM:604571 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Alg6-Cdg |
|
Failure to thrive, Jaundice, Macroglossia, Decreased LDL cholesterol concentration, Protein-losin... |
ORPHA:79320 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic fa... |
ORPHA:79303 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung,... |
ORPHA:1332 |
Felty Syndrome |
|
Hepatomegaly, Bone marrow hypocellularity, Pericarditis, Rhinitis, Weight loss, Lymphadenopathy, ... |
ORPHA:47612 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... |
ORPHA:436182 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Desquama... |
OMIM:615952 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Erysipelas, Elevated hepati... |
OMIM:214900 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Gastroesophageal reflux, Inguinal hernia, Tracheomalacia, Pyloric stenosis,... |
OMIM:613177 |
Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Cirrhosis, Hepatosplenomegaly, Recurrent upper... |
ORPHA:263501 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Coarse hair, Enlarged kidney, Long eyelashes, Proteinuria, Bo... |
OMIM:617303 |
Diarrhea 9 |
|
Failure to thrive, Villous atrophy |
OMIM:618168 |
Loeys-Dietz Syndrome 4 |
|
High palate, High, narrow palate, Eosinophilic infiltration of the esophagus, Inguinal hernia, Bi... |
OMIM:614816 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dysphagia, Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Malabsorption, Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Autosomal Agammaglobulinemia |
|
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Cellulitis, Recurrent sk... |
ORPHA:33110 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Werner Syndrome |
|
Pili torti, Sparse scalp hair, Slender build, Type II diabetes mellitus, Lipoatrophy, Ovarian neo... |
ORPHA:902 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Multiple joint contractures, Decreased serum testosterone concentration... |
ORPHA:2959 |
Oculoskeletodental Syndrome |
|
Low anterior hairline, Hepatomegaly, Hypocalcemia, Macroglossia, Splenomegaly, Small for gestatio... |
OMIM:618440 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Respiratory ... |
ORPHA:444463 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
High palate, Hypertrichosis, Hypocalcemia, Hepatomegaly, Inguinal hernia, Splenomegaly, Hepatic f... |
ORPHA:1655 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Failure to thrive, Gastroesophageal reflux, Central sleep apnea, Hypopi... |
ORPHA:70472 |
Alg12-Cdg |
|
B lymphocytopenia, Elevated hepatic transaminase, Ventriculomegaly, Hyponatremia, Decreased serum... |
ORPHA:79324 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... |
ORPHA:79301 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Cryptorchidism, Cholestasis, Camptodac... |
OMIM:608104 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Eczema, Decreased proportion of C... |
OMIM:619802 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Hyperammonem... |
OMIM:201475 |
Fabry Disease |
|
Malabsorption, Hyperlipidemia, Nephrotic syndrome, Chronic pulmonary obstruction, Abnormal circul... |
ORPHA:324 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal... |
ORPHA:263455 |
Meier-Gorlin Syndrome 6 |
|
Failure to thrive, Gastroesophageal reflux, Decreased response to growth hormone stimulation test... |
OMIM:616835 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal respiratory system physiology, Abnormal pleura morph... |
ORPHA:50251 |
Leptin Deficiency Or Dysfunction |
|
Micropenis, Recurrent upper respiratory tract infections, Decreased serum leptin, Abnormal eating... |
OMIM:614962 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hypertrichosis, Hyperinsulinemia, Hepatomegaly, Facial hyper... |
ORPHA:508 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Hypoproteinemia, Alopecia, Splenomegaly, Eosinophilia, Hypoplasi... |
OMIM:603554 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Cleft palate, Aspiration pneumonia, Weight loss, Upper airway obstruction, ... |
ORPHA:141152 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Lipodystrophy, Ventriculomegaly, Increased adipose tissue, Insulin resistance, Fu... |
ORPHA:199276 |
Alpha-Mannosidosis |
|
Narrow palate, Type II diabetes mellitus, Hepatomegaly, Inguinal hernia, Splenomegaly, Macrogloss... |
ORPHA:61 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... |
OMIM:277900 |
Dpm1-Cdg |
|
Failure to thrive, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Elevated circulating cr... |
ORPHA:79322 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphadenitis, Pneumonia, Absence of CD8-posit... |
ORPHA:911 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Elevated circulating C-reactive protein concentration, Cellulitis, Hepatosp... |
OMIM:604416 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Low anterior hairline, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus, Delay... |
OMIM:616033 |
X-Linked Agammaglobulinemia |
|
Alopecia, Abnormality of the tonsils, Abnormal lung morphology, Weight loss, Malabsorption, Osteo... |
ORPHA:47 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Hypergonadotropic hypogonadism, Cirrhosis, ... |
ORPHA:298 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Elevated circulating creatine kinase concentration, Respiratory failure req... |
ORPHA:90117 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Re... |
OMIM:619164 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Apnea, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608836 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Melioidosis |
|
Splenic abscess, Prostatitis, Cellulitis, Osteoarthritis, Abnormality of the spleen, Parotitis, B... |
ORPHA:31202 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... |
OMIM:212140 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Hemophagocytosis, Spl... |
OMIM:603552 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car... |
ORPHA:99889 |
Immunodeficiency 11 |
|
Recurrent respiratory infections, Pneumonia |
OMIM:615206 |
Pediatric-Onset Graves Disease |
|
Keratitis, Failure to thrive, Polydipsia, Neutropenia in presence of anti-neutropil antibodies, H... |
ORPHA:525731 |
Fusariosis |
|
Keratitis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Cellulitis, Peritonitis, Arthritis,... |
ORPHA:228119 |
Majeed Syndrome |
|
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the sk... |
ORPHA:77297 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypo... |
OMIM:600955 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Apnea, Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Dysphagia, ... |
OMIM:230900 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Scleroderma |
|
Keratitis, Alopecia, Myocarditis, Uveitis, Pericarditis, Abnormal large intestine morphology, Ost... |
ORPHA:801 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Hepatomegaly, Chronic oral candidiasis, Skin rash, Hypoplasia of the thymus, T... |
OMIM:300400 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Elevated hepatic transaminase, Hydronephrosis, Hepat... |
OMIM:617093 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Failure to thrive, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Splenomegaly,... |
OMIM:613489 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Recurren... |
OMIM:616000 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Sinusitis, Hepatomegaly, Lymphopenia, Flexion contracture, Splenomegaly, Skin ... |
OMIM:617591 |
Aspergillosis |
|
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Osteomyelitis, Chron... |
ORPHA:1163 |
Whim Syndrome |
|
Sinusitis, Lymphopenia, Cellulitis, Otitis media, Lymphadenitis, Recurrent upper respiratory trac... |
ORPHA:51636 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Hypogonadism, Atypical scarring... |
ORPHA:791 |
Familial Chylomicronemia Syndrome |
|
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Pulmonary... |
ORPHA:444490 |
Caspase 8 Deficiency |
|
Failure to thrive, Asthma, Recurrent sinopulmonary infections, Splenomegaly, Eczema, Pneumonia, L... |
OMIM:607271 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Increased circulating fer... |
OMIM:619991 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... |
OMIM:603471 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, B lymphocytopenia, Pancytopenia, Monocytopenia, Cellulitis, Chronic bronchitis, T ... |
OMIM:618986 |
Omenn Syndrome |
|
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Leukocytosis, Alopecia, Aplasia/Hypoplasia o... |
ORPHA:39041 |
Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Asthma, Elevated circulating growth hormone concentration, Hepatomegal... |
ORPHA:97287 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Acanthocytosis, Elevated hepatic transaminase, Hypocholesterolemi... |
ORPHA:71 |
Immunodeficiency 32B |
|
Sinusitis, Splenomegaly, Pneumonia, Bronchiectasis, Recurrent respiratory infections |
OMIM:226990 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Elevated circulating C-reactive protein concentrati... |
OMIM:619644 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, High palate, Hypertrichosis, Polydipsia, Long penis, Furrowe... |
ORPHA:769 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
Wolman Disease |
|
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Hepatic failure, Adrenal calcification, Steato... |
ORPHA:75233 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Rigid Spine Syndrome |
|
Hamstring contractures, Hip contracture, Respiratory insufficiency, Abnormality on pulmonary func... |
ORPHA:97244 |
Eosinophilic Gastroenteritis |
|
Asthma, Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steat... |
ORPHA:2070 |
Neonatal Marfan Syndrome |
|
Lipoatrophy, High, narrow palate, Flexion contracture, Small for gestational age, Hypoxemia, Decr... |
ORPHA:284979 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Ovarian neoplasm, Alopecia, Neoplasm of the small intestine, Glycosuria, Abnorm... |
ORPHA:79474 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
High palate, Cleft palate, Inguinal hernia, Micropenis, Recurrent upper respiratory tract infecti... |
OMIM:300209 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Megaloblastic anemia, Exocrine pancreatic insufficiency, Gastritis, Recurrent bronchopulmonary in... |
OMIM:219721 |
Microlissencephaly |
|
Ventriculomegaly, Pneumonia |
ORPHA:1083 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Esophageal Atresia |
|
Respiratory distress, Oral aversion, Cleft palate, Tracheoesophageal fistula, Pyloric stenosis, P... |
ORPHA:1199 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Recurrent otitis media, Neutrophilia, Cellulitis, Bronchiolitis, Widow's peak, Pne... |
OMIM:266265 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Int... |
OMIM:615486 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Wheezing, Co... |
OMIM:211600 |
Congenital Disorder Of Glycosylation, Type Im |
|
Failure to thrive, Inflammatory abnormality of the skin, Sparse eyebrow, Sparse eyelashes, Alopec... |
OMIM:610768 |
19P13.12 Microdeletion Syndrome |
|
Generalized hirsutism, Precocious puberty, Hyperlipidemia, Cleft palate, Hypospadias, Hypothyroid... |
ORPHA:254346 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Enlarged... |
ORPHA:79259 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Recurrent pneumonia, Chronic sinusitis, Recurrent otitis... |
OMIM:613502 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
High palate, Chronic bronchitis, Pneumonia |
OMIM:614069 |
Matthew-Wood Syndrome |
|
Annular pancreas, Failure to thrive, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the p... |
ORPHA:2470 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Failure to thrive, Decreased circulating cortisol level, In... |
ORPHA:90790 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria, Hyperglycinemia, Protein-losing enteropathy, Recurrent respiratory infections |
OMIM:619063 |
Schaaf-Yang Syndrome |
|
Sleep apnea, Thick eyebrow, Gastroesophageal reflux, Flexion contracture, Micropenis, Camptodacty... |
OMIM:615547 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Failure to thrive, Pustule, Villous atrophy, Erythroderma, Duodenitis |
OMIM:614328 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyro... |
OMIM:616263 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... |
OMIM:235200 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Polydipsia, Hepatoblastoma, Cholestasis, Enlarged kidney, Esophageal varix, F... |
ORPHA:731 |
Legionnaires Disease |
|
Pancreatitis, Hematuria, Abnormal pleura morphology, Myocarditis, Proteinuria, Bone marrow hypoce... |
ORPHA:549 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hydrocephalus, Hepatomegaly, Hepatic failure, C... |
ORPHA:228308 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Anemia, Thromboc... |
ORPHA:905 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... |
ORPHA:79128 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Decreased t... |
ORPHA:3085 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Steatorrhea, Esophageal varix, Weight loss, Jaundice, Abnormal urine potassium c... |
ORPHA:275761 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Recurrent to... |
ORPHA:183675 |
Adrenomyodystrophy |
|
Failure to thrive, Primary adrenal insufficiency, Abnormal intestine morphology, Hepatic steatosi... |
ORPHA:977 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Inflammation of the large intestine, Abnormality of the peritoneum, In... |
ORPHA:26790 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Abnormal pleura morphology, Abnormali... |
ORPHA:2357 |
Meier-Gorlin Syndrome 1 |
|
High palate, Failure to thrive, Respiratory distress, Gastroesophageal reflux, Joint contracture ... |
OMIM:224690 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Recurrent sinusitis, Decr... |
OMIM:300853 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Hypoplasia of the s... |
OMIM:200995 |
Infantile Sialic Acid Storage Disease |
|
High palate, Failure to thrive, Hydrocephalus, Nephrotic syndrome, Hepatomegaly, Vacuolated lymph... |
OMIM:269920 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... |
OMIM:614300 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... |
OMIM:612714 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Gout, Impaired glucose tolerance, Hypertriglyceridemia, Hype... |
OMIM:610947 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Hyperglycinemia, Hyperglycinuria, Increased circulating free fatty ac... |
ORPHA:941 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Hepatomegaly, Flexion contracture, Splenomegaly |
OMIM:608540 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
High palate, Hepatomegaly, Splenomegaly, Ventriculomegaly, Recurrent pneumonia |
OMIM:615637 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron deficiency anemia, Intesti... |
OMIM:226300 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Conjugated hy... |
OMIM:601847 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia, Failure to thrive |
OMIM:609528 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Hemophagocytosis, Hepat... |
ORPHA:470 |
Shigellosis |
|
Hepatic failure, Urethritis, Abscess, Cholestasis, Myocarditis, Uveitis, Pneumonia, Microangiopat... |
ORPHA:810 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Aplastic anemia, Macrocytic... |
ORPHA:811 |
Tetraamelia Syndrome 1 |
|
Anal atresia, Hydrocephalus, Urethral atresia, Congenital diaphragmatic hernia, Cleft palate, Pul... |
OMIM:273395 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Abnormal jejunum morphology, Osteomyelitis, Pleural empyema, E... |
ORPHA:449280 |
Aredyld Syndrome |
|
Type II diabetes mellitus, Lipoatrophy, Hepatomegaly, Splenomegaly, Sparse body hair, Aplasia/Hyp... |
ORPHA:1133 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Respiratory paralysis, Increased urinary porphobilinogen, Elevated ur... |
OMIM:121300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Failure to thrive, Methioninuria, Pancreatitis, Brittle hair, Inguinal hernia, Homoc... |
OMIM:236200 |
Mucopolysaccharidosis, Type Ii |
|
Asthma, Hypertrichosis, Airway obstruction, Hepatomegaly, Sleep apnea, Flexion contracture, Splen... |
OMIM:309900 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum, Congenital diaphragmatic hernia, Inguinal hernia, Umbilical hernia, Emphyse... |
OMIM:219100 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosple... |
OMIM:618935 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Malabsorption, Recurrent streptococcus pneumoniae infectio... |
ORPHA:83471 |
Proteus Syndrome |
|
Lymphangioma, Lipoma, Multiple lipomas, Splenomegaly |
OMIM:176920 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Cellulitis, Recurrent tonsillitis, Cervical... |
ORPHA:2686 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Peripheral pulmonary artery stenosis, Inguinal hernia, Unilateral renal age... |
ORPHA:90348 |
Secondary Intestinal Lymphangiectasia |
|
Malabsorption, Intestinal bleeding, Lymphopenia, Reduced circulating transferrin concentration, S... |
ORPHA:90363 |
Griscelli Syndrome |
|
Abnormal eyebrow morphology, Hydrocephalus, Hepatomegaly, Splenomegaly, Abnormal circulating lipi... |
ORPHA:381 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Absence of lymph node germinal cen... |
ORPHA:79124 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infec... |
OMIM:616100 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Alström Syndrome |
|
Respiratory distress, Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, He... |
ORPHA:64 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Hydrocephalus, Hepatomegaly, Splenomegaly, Unilateral renal agenesis, Cirrhosi... |
OMIM:614576 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase conc... |
OMIM:618805 |
Focal Dermal Hypoplasia |
|
Abnormality of the pulmonary vasculature, Duodenal atresia, Gastroesophageal reflux, Congenital d... |
ORPHA:2092 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulat... |
OMIM:255120 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Median... |
ORPHA:699 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233710 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... |
OMIM:617885 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low... |
OMIM:602450 |
Fanconi Anemia, Complementation Group W |
|
Duodenal atresia, Decreased response to growth hormone stimulation test, Renal hypoplasia, Ventri... |
OMIM:617784 |
Trimethylaminuria |
|
Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia |
OMIM:602079 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Eczema, Type I diabetes mell... |
OMIM:615688 |
Mucopolysaccharidosis, Type Iiic |
|
Hirsutism, Hypertrichosis, Hepatomegaly, Splenomegaly, Coarse hair, Recurrent upper respiratory t... |
OMIM:252930 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Failure to thrive, Adrenocorticotropic hormone excess, Hepatomegaly, Splen... |
OMIM:609981 |
Zygomycosis |
|
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Acute infectious pneumonia, ... |
ORPHA:73263 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Cellulitis, Recurr... |
ORPHA:486 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hematochezia, Pneumonia, Pancytopenia... |
OMIM:615846 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Hepatomegaly, Cleft palate, Otitis media, Splenomegaly, Erythroid hypoplasia, Recurr... |
OMIM:612541 |
Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Hydrocephalus, Gastroesophageal reflux, Congenital diaphragmatic hernia, Morphologi... |
ORPHA:1834 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Patchy alopecia, Alopecia, Sparse body hair, Splenomegaly, Aplasia/H... |
ORPHA:2930 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Recurrent sinusitis, Recurrent bronchitis, Re... |
OMIM:240500 |
Systemic Sclerosis |
|
Alopecia, Myocarditis, Proteinuria, Pericarditis, Albuminuria, Abnormal large intestine morpholog... |
ORPHA:90291 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233690 |
Mirage Syndrome |
|
Adrenal insufficiency, Hydrocephalus, Decreased body weight, Lymphopenia, Cryptorchidism, Gastroe... |
OMIM:617053 |
Chronic Granulomatous Disease |
|
Malabsorption, Sinusitis, Hepatomegaly, Chronic pulmonary obstruction, Splenomegaly, Otitis media... |
ORPHA:379 |
Brucellosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, P... |
ORPHA:1304 |
Temple Syndrome |
|
Hydrocephalus, Precocious puberty, Type II diabetes mellitus, Decreased response to growth hormon... |
ORPHA:254516 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Maternal diabetes, Pneumonia |
ORPHA:464370 |
Hurler-Scheie Syndrome |
|
Generalized hirsutism, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Hernia, Rhinitis |
ORPHA:93476 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... |
ORPHA:99886 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Elevated circulat... |
OMIM:231680 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Proteinuria, Pericarditis, Weight loss, Stage 5 chronic kidney disease, Chilblains,... |
OMIM:619487 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumo... |
ORPHA:36234 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Hyperbilirubinemia, Biliary atresia, Intestina... |
OMIM:615710 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Ja... |
OMIM:230350 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... |
ORPHA:369840 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Hypogonadism, Increased body weight, Abdominal obesity, Precocious puberty, Flexion contracture, ... |
ORPHA:398069 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Otitis media, Eosinophilia, Hepatosplenomegaly, Hepatitis,... |
ORPHA:169160 |
Roifman Syndrome |
|
Hip contracture, Hepatomegaly, Splenomegaly, Eosinophilia, Eczema, Prominent eyelashes, Recurrent... |
OMIM:616651 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Immunodeficiency 64 |
|
Failure to thrive, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unre... |
OMIM:618534 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Microvesicu... |
OMIM:256810 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Congenital Disorder Of Glycosylation, Type It |
|
Recurrent otitis media, Hepatomegaly, Cleft palate, Increased hepatic glycogen content, Chronic h... |
OMIM:614921 |
3-Methylglutaconic Aciduria Type 7 |
|
Neonatal hypoglycemia, Hypothyroidism, Elevated hepatic transaminase, Pneumothorax, Infection ass... |
ORPHA:445038 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Cleft palate, Macrovesicular hepatic steatosis, Cholestasis |
OMIM:614924 |
Abetalipoproteinemia |
|
Hepatomegaly, Steatorrhea, Fat malabsorption, Reticulocytosis, Respiratory failure, Cardiomegaly,... |
ORPHA:14 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increase... |
ORPHA:79644 |
Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:306400 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Reduced forced expiratory volume in one second, Hepatomegaly, Gastroesophageal reflux, Splenomega... |
OMIM:613385 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Elevat... |
OMIM:308240 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... |
OMIM:614582 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Tracheoesophageal fistula, Alveolar capillary dysplasia, Omphalocele, Congenital sh... |
OMIM:265380 |
Fryns Syndrome |
|
High palate, Ectopic anus, Anal atresia, Duodenal atresia, Gastroesophageal reflux, Congenital di... |
ORPHA:2059 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Increased circulating prolactin concentration, Central diabetes insipidus, Gastrointe... |
ORPHA:293987 |
Tularemia |
|
Cutaneous abscess, Respiratory distress, Conjunctivitis, Abnormal nasopharyngeal adenoid morpholo... |
ORPHA:3392 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Inguinal hernia, Cleft palate, Eczema, Cong... |
ORPHA:96181 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent otit... |
OMIM:618495 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive, Hepatomegaly, High, narrow palate, Splenomegaly, Elevate... |
OMIM:608799 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Flexion contracture, Splenomegaly, Nephropathy, Umbilical hernia, ... |
ORPHA:87876 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein c... |
ORPHA:829 |
Juvenile Idiopathic Arthritis |
|
Malabsorption, Hepatomegaly, Skin rash, Splenomegaly, Mediastinal lymphadenopathy, Abnormal pleur... |
ORPHA:92 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Mosaic Trisomy 9 |
|
High palate, Hypoplasia of penis, Cleft palate, Dandy-Walker malformation, Abnormal liver lobulat... |
ORPHA:99776 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Sparse hair, Inguinal hernia, Cryptorchidism, Abnormal circulating lipid concentrati... |
OMIM:616541 |
Fryns Syndrome |
|
Cleft palate, Facial hirsutism, Large for gestational age, Pulmonary hypoplasia, Omphalocele, Pol... |
OMIM:229850 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... |
OMIM:619220 |
Grfoma |
|
Cholelithiasis, Hepatomegaly, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... |
ORPHA:97261 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Cholestasis, Bladder exstrophy, Esophageal varix, Umbilical hernia... |
OMIM:301068 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Splenomegaly, Chronic otitis media, Thrombocytopenia, Hemolytic anemia, Pneumonia, ... |
ORPHA:169090 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Hepatosplen... |
ORPHA:210136 |
Isolated Biliary Atresia |
|
Hepatomegaly, Cholestasis, Fat malabsorption, Prolonged neonatal jaundice, Bile duct proliferatio... |
ORPHA:30391 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Failure to thrive, Recurrent bacterial skin infections, He... |
ORPHA:276 |
Bardet-Biedl Syndrome 1 |
|
High palate, Abdominal obesity, Hirsutism, Nephrogenic diabetes insipidus, Aganglionic megacolon,... |
OMIM:209900 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Stomatitis, Emphysema |
OMIM:618307 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... |
ORPHA:228305 |
Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Cough, Dyspnea, Weight loss, Lymphadenopathy |
ORPHA:98293 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Asthma, Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Ch... |
ORPHA:217390 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... |
OMIM:619662 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Decreased liver function, Failure to thrive, Hepatomegaly, Flexion contract... |
ORPHA:367 |
Meier-Gorlin Syndrome 4 |
|
Failure to thrive, Cryptorchidism, Breast hypoplasia, Emphysema |
OMIM:613804 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Recurrent hy... |
ORPHA:79240 |
Primary Ciliary Dyskinesia |
|
Airway obstruction, Anomalous pulmonary venous return, Hydrocephalus, Chronic sinusitis, Polysple... |
ORPHA:244 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Flexion contracture, Leukopenia, 3-Methylglutaconic aciduria, Recurrent pne... |
OMIM:616271 |
Viss Syndrome |
|
High palate, Chronic gastritis, Alopecia, Eczema, Pulmonary artery aneurysm, Broad uvula, Contrac... |
OMIM:619472 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Multiple Endocrine Neoplasia Type 1 |
|
Thymoma, Increased serum serotonin, Pituitary growth hormone cell adenoma, Melena, Intestinal car... |
ORPHA:652 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... |
OMIM:214950 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
High palate, Postprandial hyperglycemia, Hypertrichosis, Precocious puberty, Hyperinsulinemia, Sm... |
OMIM:262190 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Apnea, Hydrocephalus, Meckel diverticulum |
OMIM:300864 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... |
ORPHA:417 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Aqueductal stenosis, Splenomegaly, Intestinal malrotation, Pulmonary hypoplasia, Omphalocele |
ORPHA:3035 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Episodic tachypnea, Increased urinary glycerol, Apneic episod... |
ORPHA:348 |
Monosomy 13Q34 |
|
Infantile hypercalcemia, Epistaxis, Hematochezia, Horizontal eyebrow, Insulin resistance, Obesity... |
ORPHA:96168 |
Vipoma |
|
Hepatomegaly, Benign gastrointestinal tract tumors, Adrenocortical adenoma, Increased circulating... |
ORPHA:97282 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans... |
OMIM:615438 |
Prolidase Deficiency |
|
High palate, Failure to thrive, Asthma, Hepatomegaly, Facial hirsutism, Splenomegaly, Eczema, Ele... |
OMIM:170100 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... |
ORPHA:543 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Ele... |
OMIM:617253 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Hematuria, Myocarditis, Pneumonia, W... |
ORPHA:781 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Hypogonadism, Abdominal obesity, Precocious puberty, Small pituitary gland, Hypogonadotropic hypo... |
ORPHA:398079 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Steatorrhea, Elevated ... |
OMIM:613812 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hydrocephalus, Decreased circulating androgen concentration, Decreased circulating cortisol level... |
ORPHA:95699 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Duodenal atresia, Intestinal malrotation, Chronic otitis media, Chronic sinusitis, Decreased nasa... |
OMIM:619608 |
Staphylococcal Necrotizing Pneumonia |
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Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:36238 |
Ellis Van Creveld Syndrome |
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Failure to thrive, Abnormal hair morphology, Abnormal hair quantity, Hypospadias, Abnormality of ... |
ORPHA:289 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
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Apnea, Ketonuria, Hepatomegaly, Hepatic failure, Low plasma citrulline, Hypoglycemia, Elevated ci... |
OMIM:261680 |
Dysplastic Cortical Hyperostosis |
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Aplasia/Hypoplasia of the lungs, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Familial Hemophagocytic Lymphohistiocytosis |
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Increased circulating ferritin concentration, Decreased liver function, Cholestatic liver disease... |
ORPHA:540 |
Diaphanospondylodysostosis |
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Respiratory distress, Cleft palate, Inguinal hernia, Abnormal liver lobulation, Tracheomalacia, R... |
OMIM:608022 |
Purine Nucleoside Phosphorylase Deficiency |
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Failure to thrive, Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, ... |
OMIM:613179 |
Mixed Connective Tissue Disease |
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Hepatomegaly, Gastritis, Alopecia, Myocarditis, Gastrointestinal hemorrhage, Pericarditis, Spleno... |
ORPHA:809 |
Cushing Disease |
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Sparse scalp hair, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hi... |
ORPHA:96253 |
Juvenile Polyposis Syndrome |
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Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... |
ORPHA:2929 |
Alg1-Cdg |
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Decreased liver function, Nephrotic syndrome, Abnormality of the gastrointestinal tract, Protein-... |
ORPHA:79327 |
Short Syndrome |
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Sparse hair, Inguinal hernia, Alopecia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Wei... |
ORPHA:3163 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
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Orchitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Cellulitis, Spleno... |
ORPHA:32960 |
Fanconi Anemia, Complementation Group B |
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Duodenal atresia, Hydrocephalus, Micropenis, Hypergonadotropic hypogonadism, Tracheoesophageal fi... |
OMIM:300514 |
Hemochromatosis, Type 2B |
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Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Gitelman Syndrome |
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Respiratory distress, Polydipsia, Graves disease, Gout, Type I diabetes mellitus, Proteinuria, Pr... |
ORPHA:358 |
Babesiosis |
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Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Respiratory insufficiency, Cough, Hemoly... |
ORPHA:108 |
Typhoid |
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Hepatomegaly, Skin rash, Splenomegaly, Abnormal pulmonary interstitial morphology, Cough, Infecti... |
ORPHA:99745 |
Muckle-Wells Syndrome |
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Nephrotic syndrome, Hepatomegaly, Skin rash, Splenomegaly, Hernia of the abdominal wall, Camptoda... |
ORPHA:575 |
Patent Ductus Venosus |
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Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Hydrolethalus Syndrome 1 |
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Cleft palate, Hypospadias, Accessory spleen, Severe hydrocephalus, Abnormal lung lobation, Adrena... |
OMIM:236680 |
Lymphoproliferative Syndrome 2 |
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Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, EBV encephalit... |
OMIM:615122 |
Immunodeficiency 84 |
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Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Avian Influenza |
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Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumothorax, Pneumo... |
ORPHA:454836 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Corneal scarring, Failure to thrive, Microvesicular hepatic steatosis, Micronodular cirrhosis, He... |
ORPHA:404454 |
Immunodeficiency 72 With Autoinflammation |
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Herpes simplex encephalitis, Hepatosplenomegaly, Increased B cell count, Recurrent otitis media, ... |
OMIM:618982 |
Coccidioidomycosis |
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Respiratory distress, Hydrocephalus, Pancreatitis, Abscess, Pneumonia, Pericarditis, Lymphadenopa... |
ORPHA:228123 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Joint contracture of the hand... |
ORPHA:456312 |
Tyrosinemia Type 1 |
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Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Glycogen Storage Disease Iv |
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Failure to thrive, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Tubulointerstitial fibrosis, E... |
OMIM:232500 |
Gm1 Gangliosidosis |
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Failure to thrive, Hirsutism, Generalized hirsutism, Gastroesophageal reflux, Oral aversion, Ingu... |
ORPHA:354 |
Aicardi-Goutieres Syndrome 4 |
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Hydrocephalus, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory insufficiency, Elevate... |
OMIM:610333 |
Thoraco-Abdominal Enteric Duplication |
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Hepatomegaly, Intestinal malrotation, Respiratory insufficiency, Camptodactyly of finger, Duodena... |
ORPHA:1759 |
Selective Igm Deficiency |
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Keratitis, Recurrent infection of the gastrointestinal tract, Stomach cancer, Otitis media, Rheum... |
ORPHA:331235 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Gastroesophageal reflux, Sparse eyebrow, Cleft palate, Unilateral renal agenesis, Progressive ven... |
ORPHA:500150 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Neoplasm of the liver, Hypophosphatemic rickets, Hypoinsulinemia, Neoplasm of the lung, Pelvic ma... |
ORPHA:2126 |
D-Bifunctional Protein Deficiency |
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High palate, Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transam... |
OMIM:261515 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hypertrichosis, Flexion contracture of finger, Hepatomegaly, Elevated circulating C-reactive prot... |
OMIM:256040 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
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Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Acute hepatic failure, Cirrhos... |
ORPHA:228426 |
Fanconi Anemia, Complementation Group F |
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Failure to thrive, Duodenal atresia, Cryptorchidism, Decreased response to growth hormone stimula... |
OMIM:603467 |
Cebalid Syndrome |
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High palate, Thick eyebrow, Congenital diaphragmatic hernia, Polyphagia, Highly arched eyebrow |
OMIM:618774 |
Macrosomia Adiposa Congenita |
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