Alpha-1-Antitrypsin Deficiency |
|
Elevated circulating hepatic transaminase concentration, Reduced circulating alpha-1-antitrypsin ... |
OMIM:613490 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... |
OMIM:612526 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Failure to thrive, Ascites, Hypocholesterolemia, Villous atrophy, Splenomegaly, ... |
OMIM:608776 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Hepatosplenomegaly, Psoriasiform dermatitis, Decreased CD4:CD8 ratio, Erythroderma, D... |
OMIM:606367 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Nephrotic syndrome, Hepat... |
ORPHA:60 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Polyc... |
ORPHA:280356 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Diffuse alveolar hemorrhage, Reduced natural killer cell count, Failure to thriv... |
OMIM:616050 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Cholestasis, Decreased response to growth hormone stimulation test, Hyperinsul... |
ORPHA:71526 |
Immunodeficiency 104 |
|
Pneumonia, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Fai... |
OMIM:608971 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Increased circulatin... |
ORPHA:2457 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,... |
OMIM:613327 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... |
ORPHA:363400 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepato... |
ORPHA:79084 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hypoalbuminemia, Protein-losing enteropathy, Hepatic fibrosis, Hepatic failure, Proximal tubulopa... |
OMIM:602579 |
Congenital Generalized Lipodystrophy |
|
Insulin resistance, Precocious puberty in females, Failure to thrive, Hypertrichosis, Hyperinsuli... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pneumothorax, Erythema no... |
OMIM:612387 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L... |
OMIM:608709 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Generalized hirsutism, Proteinuria, Microscopic hematuria,... |
ORPHA:79087 |
Immunodeficiency 31C |
|
Lymphopenia, Weight loss, Hepatomegaly, Gastrointestinal eosinophilia, Eczematoid dermatitis, Ost... |
OMIM:614162 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Ventriculomegaly, Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Failure t... |
OMIM:304790 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert... |
OMIM:613877 |
Common Variable Immunodeficiency |
|
Pneumonia, Elevated circulating hepatic transaminase concentration, Bronchiectasis, Recurrent res... |
ORPHA:1572 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ... |
OMIM:615980 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proxi... |
OMIM:212065 |
Pparg-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Loss of facial adipose tissue, Hepatic s... |
ORPHA:79083 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Insulin resistance, Hepatic steatosis, Splenomegaly, Polycystic ovaries, Generalized ... |
ORPHA:2348 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Increased circulating free fatty acid level, Elevated circulating hepatic transaminase... |
ORPHA:26793 |
Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Failure to thrive, Trichorrhexis nodosa, Villous atroph... |
OMIM:614602 |
Birt-Hogg-Dubé Syndrome |
|
Emphysema, Medullary thyroid carcinoma, Multiple lipomas, Pneumothorax, Parathyroid adenoma, Pulm... |
ORPHA:122 |
Hypocomplementemic Urticarial Vasculitis |
|
Ascites, Emphysema, Episcleritis, Splenomegaly, Skin rash, Pleural effusion, Hematuria, Inflammat... |
ORPHA:36412 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small... |
ORPHA:95427 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Small for gestational age, Maturity-onset diabetes of the young, Hyperinsu... |
ORPHA:324575 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentrat... |
OMIM:615703 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Acute hepatic failure, Adrenal calcification, Hepatosplenomegaly, Hype... |
OMIM:278000 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni... |
ORPHA:397596 |
Lipe-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Increased adipose tissue around the neck, Insuli... |
ORPHA:435660 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal... |
ORPHA:3032 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Villous atrophy, Hyperlipidemia, ... |
OMIM:615863 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Penile freckling, Intestinal polyposis, Hepatic steatosis, Thyroid carcinoma, Multiple lipomas, A... |
ORPHA:210548 |
Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intestina... |
ORPHA:90362 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
Alpha-Heavy Chain Disease |
|
Alopecia, Ascites, Abnormal small intestine morphology, Splenomegaly, Hypocalcemia, Anemia, Lymph... |
ORPHA:100025 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H... |
OMIM:615381 |
Syndromic Diarrhea |
|
Lymphopenia, Colitis, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Polycystic kidney dy... |
ORPHA:84064 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Morgagni diaphragmatic hernia, Gastroesophageal reflux, Recurrent pneumonia, Pe... |
OMIM:613177 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Cirrhosis, Unconjugated hyperbilirub... |
OMIM:613658 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i... |
ORPHA:79085 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Respiratory tract infection, Microvillar PAS-positive secretory granules, Microv... |
OMIM:619445 |
Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyp... |
OMIM:151660 |
Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal pleura morphology, Weight loss, Abnormal nasal mucosa mo... |
ORPHA:797 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276575 |
Refractory Celiac Disease |
|
Hypoalbuminemia, Protein-losing enteropathy, Normocytic anemia, Elevated circulating hepatic tran... |
ORPHA:398063 |
Mhc Class Ii Deficiency 1 |
|
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Failure to thriv... |
OMIM:209920 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Lymphopenia, Psoriasifo... |
OMIM:243150 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:71212 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... |
OMIM:614480 |
Whipple Disease |
|
Insulin resistance, Gastrointestinal hemorrhage, Uveitis, Mediastinal lymphadenopathy, Polydipsia... |
ORPHA:3452 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hyperinsul... |
ORPHA:276580 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Perlman Syndrome |
|
High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Cryptorchid... |
ORPHA:2849 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Alopecia universalis, Pulmonary carcinoid tumor, Premature graying of hair, Emphysema, Abnormalit... |
ORPHA:363618 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... |
OMIM:300635 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79086 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Premature graying of hair, Reduced subcutaneous adipose... |
ORPHA:280365 |
Nocardiosis |
|
Cellulitis, Lymphadenitis, Scleritis, Weight loss, Anorexia, Endocarditis, Cutaneous abscess, Ost... |
ORPHA:31204 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Hemophagocytosi... |
OMIM:619858 |
Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
Glycogen Storage Disease Vi |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan... |
OMIM:232700 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... |
OMIM:619510 |
Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Flexion contracture, Congenital diaphragmatic hernia |
ORPHA:171719 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... |
OMIM:619868 |
Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Recurrent lower res... |
ORPHA:60033 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... |
ORPHA:435651 |
Netherton Syndrome |
|
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Failure to thrive, ... |
OMIM:256500 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypoketotic ... |
ORPHA:276556 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Decreased serum leptin... |
OMIM:608594 |
Immunodeficiency 87 And Autoimmunity |
|
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating alanin... |
OMIM:619573 |
Ddost-Cdg |
|
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri... |
ORPHA:300536 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Mediastinal lymphadenopathy, Enlarged lacrimal glands, Emphy... |
OMIM:181000 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal intestine morphol... |
ORPHA:391487 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased intestinal transit t... |
OMIM:619377 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Hemopha... |
OMIM:613101 |
Galactokinase Deficiency |
|
Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,... |
ORPHA:79237 |
Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Weight loss, Bronchiectasis |
ORPHA:1164 |
Bronchopulmonary Dysplasia |
|
Small for gestational age, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat... |
ORPHA:70589 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem... |
OMIM:607616 |
Porphyria Cutanea Tarda |
|
Portal inflammation, Hepatic steatosis, Decreased circulating hepcidin concentration, Cutaneous a... |
ORPHA:101330 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... |
ORPHA:293964 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Congenital diaphragmatic hernia |
OMIM:614100 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, I... |
ORPHA:39812 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anoperineal fistula, Pustular rash, Recurrent otitis media, Follicular hyperplasia, Weight loss, ... |
OMIM:619381 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Reduced subcutaneous adipose tissue, Hepatic steatos... |
OMIM:269700 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Abnormal large intestinal mucosa morphology, Villou... |
ORPHA:92050 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertrigl... |
ORPHA:75234 |
Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for gestational age |
OMIM:613217 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Anorexia, Hepatomegaly, 3-Me... |
OMIM:557000 |
Mantle Cell Lymphoma |
|
Splenomegaly, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy, Anorexia |
ORPHA:52416 |
Lipodystrophy, Familial Partial, Type 5 |
|
Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly... |
OMIM:615238 |
Gaucher Disease Type 2 |
|
Recurrent respiratory infections, Splenomegaly, Hepatomegaly, Flexion contracture, Dysphagia |
ORPHA:77260 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo... |
OMIM:619013 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Alopecia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flexio... |
OMIM:248370 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Premature graying of hair, Emphysema, Lymphopenia, Portal hypertension,... |
OMIM:620365 |
Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Cirrhosis, Brittle hair, Curly hair, Hepatomegaly, Jaundice, Sparse hair, Hypospadia... |
OMIM:222470 |
Immunodeficiency 27A |
|
Hypoalbuminemia, Pneumonia, Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased i... |
OMIM:209950 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Hyper... |
ORPHA:189427 |
Hypophosphatasia |
|
Emphysema, Failure to thrive in infancy, Anemia, Hypercalcemia |
ORPHA:436 |
Mpi-Cdg |
|
Hypoalbuminemia, Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Failu... |
ORPHA:79319 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Inflammation of the large intestine, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respi... |
ORPHA:436159 |
Bloom Syndrome |
|
Neoplasm of the colon, Stomach cancer, Abscess, Sparse eyelashes, Abnormal proportion of CD8-posi... |
ORPHA:125 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:607765 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... |
OMIM:606528 |
Immunodeficiency 48 |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Abnormal B cell count, Splenomegaly, Impaire... |
OMIM:269840 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:610539 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Ascites, Emphysema... |
ORPHA:538 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Myoglobinuria, Cirrhos... |
ORPHA:264580 |
Idiopathic Achalasia |
|
Gastroesophageal reflux, Bronchitis, Decreased circulating prealbumin concentration, Weight loss,... |
ORPHA:930 |
Isolated Agammaglobulinemia |
|
Cellulitis, Pneumonia, Abnormality of neutrophils, Failure to thrive, Abnormal lymphocyte morphol... |
ORPHA:229717 |
Cog4-Cdg |
|
Recurrent upper respiratory tract infections, Elevated circulating hepatic transaminase concentra... |
ORPHA:263501 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Cellulitis, Splenomegaly, Recurrent sinopulmonary infections, Increased proportion of transitiona... |
OMIM:615513 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatic failure, Ventriculomegaly, Hypertrichosis, Ascites, Pancreati... |
OMIM:235255 |
Sandhoff Disease |
|
Failure to thrive, Splenomegaly, Abnormal glycosphingolipid metabolism, Hepatomegaly, Recurrent r... |
ORPHA:796 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hepatic fibrosis, Precocious puberty, Long penis, Hypertrichosis, Cho... |
OMIM:246200 |
Alg9-Cdg |
|
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Hypertrichosis, Abnormal lung lobation... |
ORPHA:79328 |
Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Joint contracture of the hand, Arthrogryposis multiplex congenita, Failure to thrive... |
OMIM:601110 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Mildly elevated creatine kinase, Elevated circulating hepatic transaminase concentration, Hepatic... |
OMIM:618400 |
Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Reduced subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in li... |
OMIM:606721 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hypoglycemia, Anorexia, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619386 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Hypersen... |
ORPHA:79127 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Failure to thrive, Hypoglycemia, Elevated circulating thyroid-stimulating hormon... |
OMIM:617872 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, D... |
OMIM:619048 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... |
ORPHA:37042 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Knee flexion contractur... |
OMIM:619708 |
Granulomatous Disease, Chronic, X-Linked |
|
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelec... |
OMIM:306400 |
Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... |
ORPHA:139507 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:66628 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Obesity, Hepatic steatosis, Polyphagia, Red hair |
OMIM:620195 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Increased level of methylsuc... |
ORPHA:26792 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Joint contracture of the hand, Recurrent pneumonia, Ventriculomegaly, Failure... |
OMIM:214150 |
Hepatoportal Sclerosis |
|
Hypersplenism, Hyperbilirubinemia, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Ascit... |
ORPHA:64743 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hypercortisolism, ... |
OMIM:615830 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... |
ORPHA:179494 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decrease... |
OMIM:608612 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatic steatosis, Cirrhosis, Hepatomegaly, High palate, Neonatal hypoglycemia, Failure to thrive... |
OMIM:619418 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent pneumonia, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Urethral... |
ORPHA:90349 |
Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... |
OMIM:616433 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
Netherton Syndrome |
|
Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Fine hair, Abnormal hair morphology, Tricho... |
ORPHA:634 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly |
ORPHA:139406 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatic steatosis, Anemia, Cir... |
OMIM:606069 |
Citrullinemia Type Ii |
|
Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Restlessness, Hypoproteinemia, Hyperac... |
ORPHA:247585 |
Alg6-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Puberty and gonadal disorders, Ab... |
ORPHA:79320 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid... |
OMIM:264470 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Accumulation of lip... |
OMIM:246700 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Decreased liver function, Cholest... |
OMIM:608104 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... |
ORPHA:79303 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatic failure, Ventriculomegaly, Hypertrichosis, Ascites, Pancreati... |
ORPHA:1655 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Emphysema, Hypophosphatemic rickets, Stage 5 chronic kidney disease, L... |
OMIM:618913 |
Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:913 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Mhc Class I Deficiency 1 |
|
Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otiti... |
OMIM:604571 |
Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Ex... |
OMIM:615952 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Alg12-Cdg |
|
Recurrent hypoglycemia, Cryptorchidism, Low posterior hairline, Recurrent pharyngitis, Hypospadia... |
ORPHA:79324 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... |
ORPHA:263455 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ... |
ORPHA:158057 |
Immunodeficiency 32B |
|
Hypoalbuminemia, Pneumonia, Neutrophilia, Failure to thrive, Impaired oxidative burst, Splenomega... |
OMIM:226990 |
Werner Syndrome |
|
Insulin resistance, Abnormal hair whorl, Gastrointestinal carcinoma, Chondrocalcinosis, Neoplasm ... |
ORPHA:902 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Cellulitis, Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent ... |
OMIM:266265 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recu... |
OMIM:607594 |
Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei... |
ORPHA:1332 |
Mucopolysaccharidosis-Plus Syndrome |
|
Low posterior hairline, Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic ste... |
OMIM:617303 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Coombs-p... |
OMIM:619375 |
Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ... |
ORPHA:2357 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Sparse scalp hair, Increased ... |
ORPHA:99889 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive |
OMIM:618168 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus, Hypertrigl... |
ORPHA:436182 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Delayed puberty, Hyperinsulinemi... |
OMIM:616033 |
Felty Syndrome |
|
Cellulitis, Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic oti... |
ORPHA:47612 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... |
ORPHA:42 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased proportion o... |
OMIM:619802 |
Whim Syndrome |
|
Cellulitis, Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphad... |
ORPHA:51636 |
Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Reactive hypoglycemia, D... |
OMIM:600955 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ... |
ORPHA:263458 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Elevated cir... |
OMIM:619632 |
Primary Ciliary Dyskinesia |
|
Ventriculomegaly, Bronchiectasis, Nasal polyposis, Polysplenia, Atelectasis, Intestinal malrotati... |
ORPHA:244 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Self-injurious behavior, Ventriculomegaly, Recurrent pneumonia, Splenomegaly, Hepatomegaly, High ... |
OMIM:615637 |
Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Elbow flexion contracture, Splenomegaly, Hypocalcemia, Low anterior h... |
OMIM:618440 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Respiratory tract infection, Autoim... |
ORPHA:444463 |
Zygomycosis |
|
Cellulitis, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointest... |
ORPHA:73263 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
Dpm1-Cdg |
|
High, narrow palate, Hepatic fibrosis, Ventriculomegaly, Elevated circulating hepatic transaminas... |
ORPHA:79322 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Ventriculomegaly, Hyperlipidemia, Lipodystrophy, Functional intestinal obstru... |
ORPHA:199276 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
Meier-Gorlin Syndrome 6 |
|
Gastroesophageal reflux, Failure to thrive, Umbilical hernia, Emphysema, Decreased response to gr... |
OMIM:616835 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
Leptin Deficiency Or Dysfunction |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Hypogonadism, Decreased testic... |
OMIM:614962 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ... |
ORPHA:79299 |
Alpha-Mannosidosis |
|
Recurrent respiratory infections, Type II diabetes mellitus, Inguinal hernia, Splenomegaly, Arthr... |
ORPHA:61 |
Leprechaunism |
|
Facial hypertrichosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Decreased body weig... |
ORPHA:508 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Hypogonadotropi... |
ORPHA:298 |
Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Impaired ... |
OMIM:300400 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi... |
OMIM:606762 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema, Increased proportion of exhausted T cells, Stomatitis |
OMIM:618307 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... |
OMIM:619126 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Hyp... |
OMIM:603471 |
Lactose Intolerance, Adult Type |
|
Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Temple Syndrome |
|
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Recurrent otitis media, De... |
OMIM:616222 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Hypospadias, Ventriculomegaly, Self-injurious behavior, Obesity, Hyperlipidem... |
ORPHA:254346 |
Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Lymphadenopathy, B lymph... |
OMIM:619164 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cellulitis, Elbow flexion contracture, Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Knee ... |
OMIM:604416 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Elevated circulating phytanic acid concentration, Hepatom... |
OMIM:266510 |
Melioidosis |
|
Cellulitis, Pneumonia, Brain abscess, Hepatitis, Foot osteomyelitis, Parotitis, Cutaneous abscess... |
ORPHA:31202 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ski... |
OMIM:603552 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Bifid uvula, Alopecia, Gastroesophageal reflux, Elevated circulating hepatic transaminase concent... |
ORPHA:2959 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Elevated circulating creatine kinase concentration, Decreased cervica... |
ORPHA:254361 |
Pediatric-Onset Graves Disease |
|
Elevated circulating hepatic transaminase concentration, Keratitis, Failure to thrive, Graves dis... |
ORPHA:525731 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Liver Disease, Severe Congenital |
|
Dry hair, Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Pul... |
OMIM:619991 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Gastroesophageal reflux, Decreased circulating carnitine concentration, Hepa... |
OMIM:201475 |
H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Hernia, Recurrent pharyngitis, Hi... |
ORPHA:168569 |
Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Hepatome... |
OMIM:203800 |
Microlissencephaly |
|
Pneumonia, Ventriculomegaly |
ORPHA:1083 |
Caspase 8 Deficiency |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Recur... |
OMIM:607271 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Splenomegaly, Recurrent sinusitis, Absent circulating B cells, Generalized lymphade... |
OMIM:620282 |
Loeys-Dietz Syndrome 4 |
|
High, narrow palate, Bifid uvula, Broad uvula, Emphysema, Inguinal hernia, Eosinophilic infiltrat... |
OMIM:614816 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
Fusariosis |
|
Cellulitis, Abnormality of the spleen, Lymphopenia, Neutropenia, Granuloma, Osteomyelitis, Abnorm... |
ORPHA:228119 |
Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Cellulitis, Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618986 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level |
ORPHA:103907 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Umbilical hernia |
OMIM:254120 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Recurrent respiratory infections, Hyperglycinemia, Lacticaciduria |
OMIM:619063 |
Omenn Syndrome |
|
Pneumonia, Alopecia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegal... |
ORPHA:39041 |
Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Pulmonary hemorrhage, Neutrophilia, ... |
OMIM:619644 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Neutr... |
OMIM:613502 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
OMIM:613489 |
Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu... |
OMIM:620357 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Weight loss, Cleft palate, Aspiration pneumonia |
ORPHA:141152 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty, Truncal obesity |
ORPHA:140941 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Hepatic steatosis, Hypopigm... |
ORPHA:70472 |
Rabson-Mendenhall Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... |
ORPHA:769 |
Wolman Disease |
|
Hepatic failure, Ascites, Adrenal calcification, Adrenal insufficiency, Splenomegaly, Hepatomegal... |
ORPHA:75233 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... |
OMIM:617591 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... |
OMIM:301045 |
Atypical Werner Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Abnormal hair morphology, General... |
ORPHA:79474 |
Fabry Disease |
|
Nephropathy, Abnormal circulating lipid concentration, Emphysema, Hyperlipidemia, Renal insuffici... |
ORPHA:324 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Anorexia, Abnormal blood ion... |
ORPHA:810 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... |
OMIM:608836 |
Neonatal Marfan Syndrome |
|
High, narrow palate, Emphysema, Decreased testicular size, Flexion contracture, Lipoatrophy, Smal... |
ORPHA:284979 |
Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Failure to thrive, Duodenal stenosis, Horseshoe kidney, Vesic... |
ORPHA:2470 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... |
OMIM:300853 |
Schaaf-Yang Syndrome |
|
Gastroesophageal reflux, Failure to thrive in infancy, Hypogonadism, Obesity, Thick eyebrow, Cryp... |
OMIM:615547 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Villous atrophy, Duodenitis, Pustule, Erythroderma, Blepharitis |
OMIM:614328 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Failure to thrive, Hypoglycemia, Abnormal circulating androgen level, Increased circul... |
ORPHA:90790 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventriculomegaly, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly, Recurrent respiratory infe... |
OMIM:620210 |
Congenital Tracheomalacia |
|
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... |
ORPHA:95430 |
Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, O... |
ORPHA:470 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Increased serum serotonin, Hepatic failure, Increased circulating cortisol level, Incr... |
ORPHA:97287 |
Mody |
|
Nephropathy, Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Pancrea... |
ORPHA:552 |
Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... |
OMIM:277900 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Fair hair, Failure to thrive, Ascites, Splenomegaly, Cardiomegaly, Hydrocepha... |
OMIM:269920 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... |
OMIM:609968 |
Legionnaires Disease |
|
Cellulitis, Bone marrow hypocellularity, Abnormal lung morphology, Hepatitis, Anorexia, Lymphopen... |
ORPHA:549 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Flexion contracture |
OMIM:608540 |
Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... |
ORPHA:71 |
Autosomal Agammaglobulinemia |
|
Cellulitis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Failure to thrive, Osteo... |
ORPHA:33110 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Cryptor... |
ORPHA:3085 |
Mucopolysaccharidosis, Type Iiic |
|
Recurrent upper respiratory tract infections, Coarse hair, Hypertrichosis, Heparan sulfate excret... |
OMIM:252930 |
D-Glyceric Aciduria |
|
Hyperglycinuria, Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hypergl... |
ORPHA:941 |
Mirage Syndrome |
|
Aspiration pneumonia, Lymphopenia, Cryptorchidism, Decreased body weight, Achalasia, Hyperkalemia... |
OMIM:617053 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Omphalocele, Pancreatic fibrosis, Hepa... |
OMIM:200995 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr... |
ORPHA:2137 |
Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... |
OMIM:617514 |
Familial Chylomicronemia Syndrome |
|
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... |
ORPHA:444490 |
Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Recurrent hypoglycemia, Dicarbo... |
OMIM:212140 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Hemochromatosis, Type 1 |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Increased circulating iron con... |
OMIM:235200 |
Rigid Spine Syndrome |
|
Elbow flexion contracture, Hamstring contractures, Pneumonia, Hip contracture |
ORPHA:97244 |
C1Q Deficiency 2 |
|
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Anemia, Arthriti... |
OMIM:620321 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased response to growth hormone stimulation test, Obesity, Hyperbilirubinemia, ... |
OMIM:609734 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph nod... |
OMIM:620233 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in inf... |
ORPHA:275761 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Polycystic ov... |
ORPHA:79259 |
Aicardi-Goutieres Syndrome 9 |
|
Lateral ventricle dilatation, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight loss, Glo... |
OMIM:619487 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile... |
ORPHA:731 |
Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Abnorm... |
ORPHA:1163 |
Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Hyperuricemi... |
OMIM:306000 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia, Ventriculomegaly, Polysplenia, Decreased response to growth hormone stimulation... |
OMIM:617784 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increased... |
ORPHA:398069 |
Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Spar... |
OMIM:610768 |
Mitchell-Riley Syndrome |
|
Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ... |
OMIM:615710 |
Proteus Syndrome |
|
Cerebriform connective tissue nevus, Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma |
OMIM:176920 |
Meier-Gorlin Syndrome 1 |
|
Joint contracture of the hand, Gastroesophageal reflux, Failure to thrive, Emphysema, Breast hypo... |
OMIM:224690 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Tubulointerstitial nephritis, Hepatomega... |
ORPHA:228308 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Anorectal anomaly, Abnormality of the spleen, Abnormality of the liver, ... |
ORPHA:1834 |
Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Volvulus,... |
ORPHA:90363 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failur... |
OMIM:615486 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Homocystinuria, Failure to thrive, Inguinal hernia, Hepatic steatosis, Pancre... |
OMIM:236200 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
Trimethylaminuria |
|
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia |
OMIM:602079 |
Esophageal Atresia |
|
Esophagitis, Abnormal gastrointestinal tract morphology, Oral aversion, Dysphagia, Duodenal atres... |
ORPHA:1199 |
Aredyld Syndrome |
|
Type I diabetes mellitus, Sparse body hair, Abnormal dental enamel morphology, Abnormality of the... |
ORPHA:1133 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... |
ORPHA:183675 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... |
ORPHA:169160 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Increased LDL ch... |
ORPHA:247598 |
Adrenomyodystrophy |
|
Failure to thrive, Megacystis, Primary adrenal insufficiency, Hepatic steatosis, Abnormal intesti... |
ORPHA:977 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Allergic rhinitis, Atopic dermatitis, ... |
ORPHA:2070 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Cellulitis, Pneumonia, Periodontitis, Aplastic anemia, Lymphopenia, Recurrent aphthous stomatitis... |
ORPHA:486 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Dysphagia, Abnormal glucose homeostasis, Elevated circulating creatine kina... |
ORPHA:90117 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recurrent sinus... |
OMIM:240500 |
Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... |
ORPHA:1304 |
Temple Syndrome |
|
Precocious puberty, Bifid uvula, Recurrent hypoglycemia, Decreased response to growth hormone sti... |
ORPHA:254516 |
Cyclic Neutropenia |
|
Cellulitis, Recurrent tonsillitis, Periodontitis, Cervical lymphadenopathy, Lymphopenia, Cyclic n... |
ORPHA:2686 |
Short-Rib Thoracic Dysplasia 12 |
|
Periportal fibrosis, Pulmonary hypoplasia, Renal hypoplasia, Atelectasis, Hamartoma of tongue, In... |
OMIM:269860 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Erythema nodosum, Elevated... |
OMIM:615688 |
Aicardi-Goutieres Syndrome 7 |
|
Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Nephrotic syndrome, Recur... |
OMIM:615846 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Adrenal gland agenesis, Urethral atresia, Hydrocephalus, Aspleni... |
OMIM:273395 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphope... |
OMIM:616100 |
Focal Dermal Hypoplasia |
|
Alopecia, Gastroesophageal reflux, Multicystic kidney dysplasia, Camptodactyly of finger, Umbilic... |
ORPHA:2092 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diver... |
ORPHA:90348 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ... |
ORPHA:79301 |
Poems Syndrome |
|
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Ascit... |
ORPHA:2905 |
Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin 3, Elevated urinary coproporphyrin level, Increased urinary porpho... |
OMIM:121300 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal... |
OMIM:618935 |
Griscelli Syndrome |
|
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... |
ORPHA:381 |
Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... |
ORPHA:811 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Peripheral pulmonary artery stenosis, Umbilical hernia, Emphysema, Inguinal hernia, Congenital di... |
OMIM:219100 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... |
OMIM:602450 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... |
OMIM:619220 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... |
OMIM:233710 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, Frontal upsweep of hair, Type II diabetes mellitus, Cryptorchidism, Polyphagia,... |
OMIM:176270 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Ventriculomegaly, Small for gestational age, Hypoglycemia, Aspiration pneumonia, Hyp... |
OMIM:618253 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Inflammation of the large intestine, Elevated circulating hepatic tran... |
OMIM:614576 |
Huntington Disease |
|
Decreased body mass index, Abnormal circulating cholesterol concentration, Oral-pharyngeal dyspha... |
ORPHA:399 |
Farber Disease |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Recur... |
ORPHA:333 |
Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... |
ORPHA:699 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia, Failure to thrive in infancy, Hepatic steatosis, Pancreatitis... |
OMIM:618805 |
Alström Syndrome |
|
Chronic kidney disease, Testicular fibrosis, Frontal balding, Decreased circulating T4 concentrat... |
ORPHA:64 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E... |
OMIM:251880 |
Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... |
ORPHA:42642 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Cellulitis, Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteom... |
OMIM:233690 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Hepatomegaly, Jaundice, Hypergalact... |
OMIM:230350 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Fryns Syndrome |
|
Joint contracture of the hand, Cryptorchidism, Anal atresia, Hypospadias, Duodenal atresia, Ompha... |
OMIM:229850 |
Immunodeficiency 114, Folate-Responsive |
|
Atopic dermatitis, Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megal... |
OMIM:620603 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Ventriculomegaly, Eczematoid dermatitis, Congenital adrenal hyperplasia, Inguinal hernia, Increas... |
ORPHA:96181 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Pulmonary hemorrhage, Pancytopenia, H... |
ORPHA:79124 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepato... |
OMIM:616263 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia... |
OMIM:617885 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... |
OMIM:231680 |
Digeorge Syndrome |
|
Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, High, narrow palate, Cholel... |
OMIM:188400 |
Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Alopecia, Dystrophic toenail, Sparse body hair, Anorexia, Furrowed to... |
ORPHA:2930 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo... |
OMIM:618495 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections, Abnormally low T cell... |
OMIM:618806 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevate... |
OMIM:256810 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancy... |
OMIM:308240 |
Grfoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... |
ORPHA:97261 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Skin rash,... |
OMIM:612714 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Omenn Syndrome |
|
Pneumonia, Alopecia, Severe B lymphocytopenia, Failure to thrive, Splenomegaly, Hypoplasia of the... |
OMIM:603554 |
Short Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Abse... |
OMIM:269880 |
Fryns Syndrome |
|
Ventriculomegaly, Gastroesophageal reflux, Multicystic kidney dysplasia, Intestinal malrotation, ... |
ORPHA:2059 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Failure to thrive, Adrenal insufficiency, Splenomegaly, Adreno... |
OMIM:609981 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... |
OMIM:618534 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt... |
OMIM:614470 |
Mucopolysaccharidosis, Type Ii |
|
Recurrent pneumonia, Intestinal pseudo-obstruction, Umbilical hernia, Hypertrichosis, Recurrent o... |
OMIM:309900 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hernia, Generalized hirsutism, Abnormality of the tonsils, Hepatomegaly, Rhinitis |
ORPHA:93476 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Polyphagia, R... |
ORPHA:293987 |
Systemic Sclerosis |
|
Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Albuminuria, Recurrent skin infe... |
ORPHA:90291 |
Immunodeficiency 7 |
|
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... |
OMIM:615387 |
Adult-Onset Still Disease |
|
Weight loss, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatomegaly, L... |
ORPHA:829 |
Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cry... |
ORPHA:398079 |
3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... |
ORPHA:445038 |
Scedosporiosis |
|
Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Pleuritis, Arthralgia/arthriti... |
ORPHA:449280 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Conj... |
OMIM:601847 |
Roifman Syndrome |
|
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Splenome... |
OMIM:616651 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Hyper... |
OMIM:613385 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Intestinal malrotation, Splenomegaly, Omphalocele, Aqueductal stenosis, Pulmonary hypoplasia |
ORPHA:3035 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Wolman Disease |
|
Failure to thrive, Acute hepatic failure, Adrenal calcification, Splenomegaly, Hepatomegaly |
OMIM:620151 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit... |
OMIM:620565 |
Seckel Syndrome 10 |
|
Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Elevated circulat... |
OMIM:617253 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atopic dermatitis, Atelectasis, Hypereosinophilia, Pleural effusion, Leukocytosis, Abnormality of... |
ORPHA:2902 |
Potocki-Lupski Syndrome |
|
Gastroesophageal reflux, Failure to thrive, Oral-pharyngeal dysphagia, Hypocholesterolemia, Hypot... |
OMIM:610883 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia... |
ORPHA:79240 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Recurrent upper respiratory tract infections, Reduced ... |
OMIM:301082 |
Smith-Lemli-Opitz Syndrome |
|
Recurrent otitis media, Hepatic steatosis, Cryptorchidism, Cirrhosis, Hepatomegaly, Hypospadias, ... |
OMIM:270400 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... |
ORPHA:369840 |
Meier-Gorlin Syndrome 4 |
|
Emphysema, Breast hypoplasia, Failure to thrive, Cryptorchidism |
OMIM:613804 |
Bacterial Toxic-Shock Syndrome |
|
Cellulitis, Abscess, Glomerulonephritis, Recurrent skin infections, Elevated circulating creatini... |
ORPHA:36234 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... |
OMIM:214900 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Insulin resistance, Unilateral renal agenesis, Ventriculomegaly, Renal hypoplasia, Abnormal circu... |
OMIM:616541 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri... |
ORPHA:17 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:228305 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Ventriculomegaly, Elevated circulating hepatic transam... |
ORPHA:404454 |
Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Bronchiectasis, Eczematoid dermatitis, Failure to thrive, Abnormality of co... |
ORPHA:79128 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Joint contracture of the hand, Cryptorchidism, Pulmonary lymphangiectasia, Ectopic kidney, Rectal... |
OMIM:235510 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o... |
ORPHA:95699 |
Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Hypogonadism, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Hyperbili... |
OMIM:301068 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Camptodactyly of finger, Intestinal malrotation, Abnormal lung lobation, Horses... |
ORPHA:99776 |
Viss Syndrome |
|
Cleft soft palate, Contracture of the proximal interphalangeal joint of the 2nd toe, Celiac disea... |
OMIM:619472 |
Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... |
ORPHA:3392 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche, Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... |
OMIM:614662 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Hepatomegaly, Recurrent lower respi... |
OMIM:612541 |
Leptin Receptor Deficiency |
|
Recurrent upper respiratory tract infections, Decreased response to growth hormone stimulation te... |
OMIM:614963 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increas... |
OMIM:618982 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... |
ORPHA:543 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Pulmonary lymphangiectasia, Anal atresia, Hypospadias, Duod... |
OMIM:265380 |
Heterotaxy, Visceral, 1, X-Linked |
|
Total anomalous pulmonary venous return, Failure to thrive, Polysplenia, Abdominal situs inversus... |
OMIM:306955 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hepatomegaly |
ORPHA:86893 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Failure to thrive, Ascites, Hepatosplenomegaly, Abnormal circulating creatine ki... |
OMIM:232500 |
Abetalipoproteinemia |
|
Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypotriglyceridem... |
ORPHA:14 |
Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Pneumonia, Recurrent upper respiratory tract infections, Decreased urinary urate, F... |
OMIM:613179 |
Mucopolysaccharidosis, Type Iiia |
|
Recurrent upper respiratory tract infections, Coarse hair, Umbilical hernia, Heparan sulfate excr... |
OMIM:252900 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:98793 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Q Fever |
|
Hepatosplenomegaly, Hematuria, Weight loss, Anorexia, Hepatomegaly, Endocarditis, Granuloma, Oste... |
ORPHA:781 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Splenomegaly, Amelogenesis imperfecta, Lymphadenopathy, Thrombocytopenia, Hypocalcific... |
ORPHA:169090 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... |
ORPHA:417 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Usual interstitial pneumonia, Increas... |
OMIM:620367 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:177904 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hyperammonemia, Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... |
OMIM:262190 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Leukopenia, Hepatic steatosis, 3-Methylglutaconic aciduria, Neutropenia, Thr... |
OMIM:616271 |
Cushing Disease |
|
Increased circulating cortisol level, Pituitary corticotropic cell adenoma, Increased urinary cor... |
ORPHA:96253 |
Ellis Van Creveld Syndrome |
|
Acute leukemia, Hydroureter, Failure to thrive, Abnormal hair morphology, Emphysema, Abnormality ... |
ORPHA:289 |
Distal Deletion 12Q |
|
Obsessive-compulsive trait, Ectopic kidney, Polycystic kidney dysplasia, Duodenal atresia, High, ... |
ORPHA:96149 |
Proteus Syndrome |
|
Pulmonary cyst, Generalized hirsutism, Cachexia, Pulmonary bulla, Abnormal subcutaneous fat tissu... |
ORPHA:744 |
Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Ganglioside accumulation, Failure to thrive, Camptodactyly of finger, As... |
ORPHA:354 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:177901 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventriculomegaly, Failure to thrive, Atelectasis, Hepatocellular necrosis, Hepatosplenomegaly, Le... |
OMIM:618278 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagi... |
OMIM:147060 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Bulimia, Decreased circulating T4 concentration, Central adrenal insufficie... |
ORPHA:98754 |
Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Elevated circulating aspartate ami... |
OMIM:170100 |
Babesiosis |
|
Hepatic failure, Anorexia, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Recur... |
ORPHA:108 |
Congenital Disorder Of Glycosylation, Type It |
|
Bifid uvula, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, H... |
OMIM:614921 |
Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure... |
OMIM:615438 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Intrah... |
OMIM:211600 |
Fanconi Anemia, Complementation Group B |
|
Ventriculomegaly, Aplastic anemia, Abnormal lung lobation, Hypogonadism, Tracheoesophageal fistul... |
OMIM:300514 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia |
OMIM:118830 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... |
ORPHA:276 |
Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Eczematoid dermatitis, Elevated haptoglobin level, Intestinal lymphangiectasia, ... |
OMIM:620632 |
D-Bifunctional Protein Deficiency |
|
Fetal ascites, Elevated circulating hepatic transaminase concentration, Increased circulating ver... |
OMIM:261515 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu... |
ORPHA:35878 |
Cebalid Syndrome |
|
Highly arched eyebrow, Thick eyebrow, Congenital diaphragmatic hernia, Polyphagia, High palate |
OMIM:618774 |
Leishmaniasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopeni... |
ORPHA:507 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... |
OMIM:614582 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Decreased circulating free T4 concentration, Attention deficit hyperactiv... |
OMIM:301033 |
Primary Biliary Cholangitis |
|
Xanthelasma, Cirrhosis, Hepatomegaly, Jaundice, Celiac disease, Esophageal varix, Ascites, Abnorm... |
ORPHA:186 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... |
OMIM:255120 |
Microsporidiosis |
|
Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper... |
ORPHA:2552 |
Immunodeficiency 69 |
|
Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... |
OMIM:618963 |
Juvenile Polyposis Syndrome |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis... |
ORPHA:2929 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Bifid uvula, Sparse eyebrow, Gastroesophageal reflux, Progressive ventriculomegaly, Lateral ventr... |
ORPHA:500150 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Eosinophilia, Bronchiectasis |
OMIM:617638 |
Lymphoproliferative Syndrome 2 |
|
Recurrent pneumonia, Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia... |
OMIM:615122 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Eczematoid dermatitis, Failure to thrive, Hypocalcemic tetany, Recurrent infection of ... |
ORPHA:83471 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital pulmonary airway malformation, Bilateral lung agenesis, Congenital diaphragmatic herni... |
OMIM:611812 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Cellulitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Splenomegaly, Intestinal obstruction, S... |
ORPHA:32960 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Recurrent otitis media, Recurrent sinu... |
OMIM:615482 |
Follicular Lymphoma |
|
Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Med... |
ORPHA:545 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
Jacobsen Syndrome |
|
Bone marrow hypocellularity, Ventriculomegaly, Multicystic kidney dysplasia, Annular pancreas, Ec... |
ORPHA:2308 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Dextrocardia |
|
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobatio... |
ORPHA:1666 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Abnormal lung lobation, Hydronephrosis, Adrenal gland dysgenesis, ... |
OMIM:236680 |
Short Syndrome |
|
Insulin resistance, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Lipodystrophy, ... |
ORPHA:3163 |
Down Syndrome |
|
Type II diabetes mellitus, Protruding tongue, Acute megakaryocytic leukemia, Neutrophilia, Leukem... |
ORPHA:870 |
Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Hepatic fibrosis, Insulin resistance, Abnormality of the ovary, Decreased te... |
OMIM:209900 |
Sialidosis Type 2 |
|
Nephropathy, Umbilical hernia, Ascites, Inguinal hernia, Splenomegaly, Hepatomegaly, Flexion cont... |
ORPHA:87876 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Failure to thrive |
OMIM:618234 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Renal hypoplasia, Failure to thrive, Microphallus, Decrea... |
OMIM:603467 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Polyphagia |
ORPHA:329249 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Cellulitis, Eczematoid dermatitis, Atelectasis, Abnormal hair morphology, Osteomyelitis, Skin ras... |
ORPHA:2314 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Emphysema, Premature osteoarthritis, Reduced subcutaneous adipose ti... |
OMIM:154700 |
Selective Igm Deficiency |
|
Cellulitis, Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-p... |
ORPHA:331235 |
Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ... |
ORPHA:79126 |
Bardet-Biedl Syndrome |
|
Chronic kidney disease, Inflammation of the large intestine, Type II diabetes mellitus, Hepatic s... |
ORPHA:110 |
Combined Immunodeficiency, X-Linked |
|
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... |
OMIM:312863 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Recurrent respiratory infections, Recurrent sinusitis, B lymphocyto... |
ORPHA:217390 |
Congenital Disorder Of Glycosylation, Type Ie |
|
High, narrow palate, Ankle flexion contracture, Elevated circulating hepatic transaminase concent... |
OMIM:608799 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice |
ORPHA:172 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Low ... |
OMIM:261680 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Glucose intolerance, Obesity, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice |
ORPHA:79238 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Recurrent otitis media, Microcytic anemia, Flexion contracture of fing... |
OMIM:256040 |
Sotos Syndrome |
|
Small cell lung carcinoma, Cryptorchidism, Hip contracture, Acute lymphoblastic leukemia, Hypospa... |
ORPHA:821 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Fa... |
OMIM:613812 |
Mixed Connective Tissue Disease |
|
Nephropathy, Xerostomia, Hepatomegaly, Gastrointestinal hemorrhage, Gastroesophageal reflux, Alop... |
ORPHA:809 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Fanconi-Bickel Syndrome |
|
Nephropathy, Hypophosphatemia, Elevated circulating alanine aminotransferase concentration, Hepat... |
ORPHA:2088 |
Gaucher Disease Type 1 |
|
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Hematuria, Cirrhosis, Anorexia, Hepatomegaly, El... |
ORPHA:77259 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Abnormality of neutrophils, Eczematoid dermatitis, Splenomegaly, Otitis media, ... |
ORPHA:379 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... |
OMIM:208085 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc... |
ORPHA:882 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... |
OMIM:613313 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Splenomegaly, Infectious encephalitis, Hepatomegaly, Abno... |
ORPHA:99745 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia, Ventriculomegaly |
ORPHA:85179 |
Isolated Biliary Atresia |
|
Cholestasis, Hypopituitarism, Xanthelasma, Severe failure to thrive, Cirrhosis, Hepatomegaly, Jau... |
ORPHA:30391 |
Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransfera... |
OMIM:257200 |
Immunodeficiency 47 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... |
OMIM:300972 |
Prader-Willi Syndrome |
|
Premature adrenarche, Periodontitis, Xerostomia, Central adrenal insufficiency, Cryptorchidism, P... |
ORPHA:739 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Failur... |
ORPHA:367 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa... |
OMIM:610717 |
Gitelman Syndrome |
|
Type II diabetes mellitus, Parathyroid adenoma, Urinary incontinence, Tubulointerstitial nephriti... |
ORPHA:358 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Ulcerative colitis, Pancytopenia, Splenomegaly, Crohn's d... |
OMIM:618394 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Bifid uvula, Maturity-onset diabetes of the young, Recurrent otitis media, Ob... |
ORPHA:96184 |
Cimdag Syndrome |
|
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Hepatomegaly |
OMIM:619273 |
Immunodeficiency 10 |
|
Recurrent pneumonia, Hypoglycemia, Recurrent otitis media, Splenomegaly, Autoimmune hemolytic ane... |
OMIM:612783 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Nasal polyposis, Atelectasis, Communicating hydrocephalus, Recurrent bronchitis, Chron... |
OMIM:244400 |
Muckle-Wells Syndrome |
|
Nephropathy, Nephrotic syndrome, Camptodactyly of finger, Recurrent aphthous stomatitis, Episcler... |
ORPHA:575 |
Duodenal Atresia |
|
Abnormality of the pulmonary artery, Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Anorexia, Renal insufficiency, Hyperammonemia, Splenomegaly, Anemia, Pancreati... |
ORPHA:79312 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis |
OMIM:615918 |
Alg1-Cdg |
|
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Renal insufficiency, Abnor... |
ORPHA:79327 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis, Otitis media, Chronic sinusitis |
OMIM:300455 |
Monosomy 13Q34 |
|
Insulin resistance, Hematochezia, Horizontal eyebrow, Obesity, Hepatic steatosis, Hypercalcemia |
ORPHA:96168 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Inguinal hernia, Congenital di... |
OMIM:614437 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ... |
OMIM:620454 |
Immunodeficiency 92 |
|
Pneumonia, Osteomyelitis, Esophagitis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decre... |
OMIM:619652 |
Smith-Magenis Syndrome |
|
Ventriculomegaly, Head-banging, Velopharyngeal insufficiency, Abnormality of the thyroid gland, O... |
OMIM:182290 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Xanthelasma, Increased LDL cholesterol concentration, Go... |
ORPHA:412 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Neonatal hyperbilirubinemia, Failure to thrive, Hypoglycemia, Hypogonadism, L... |
ORPHA:73272 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis |
OMIM:619466 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... |
OMIM:269600 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Alopecia, Abnormal hair morphology, Generalized lipodystrophy, Hyperlipidemia... |
ORPHA:90154 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Hepatic steatosis, Cryptorchidism, Abnormal intestine morphology, Gene... |
ORPHA:1606 |
Coccidioidomycosis |
|
Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Atypica... |
ORPHA:228123 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventriculomegaly, Gastroesophageal reflux, Lateral ventricle dilatation, Abnormal medullary pyram... |
ORPHA:79243 |
Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... |
OMIM:616726 |
Diaphanospondylodysostosis |
|
Horseshoe kidney, Inguinal hernia, Cystic renal dysplasia, Abnormal liver lobulation, Enlarged ki... |
OMIM:608022 |
Congenital Rubella Syndrome |
|
Type I diabetes mellitus, Skin rash, Splenomegaly, Abnormality of the pulmonary artery, Anemia, T... |
ORPHA:290 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Type I diabetes mellitus, Hepatitis, Acute hepatic failure, Failure to thrive in infancy, Hepatos... |
ORPHA:228426 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Abnormality of the ureter, Splenomegaly, Aplasia/Hypoplasia of the lungs, Anemia, Hypopl... |
ORPHA:1046 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Cirrhosis, Anomalous splenoportal venous... |
OMIM:271500 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Type I diabetes mellitus, Congenital pulmonary airway malformation, Jejunoile... |
ORPHA:436252 |
Miller-Dieker Lissencephaly Syndrome |
|
Joint contracture of the hand, Failure to thrive, Inguinal hernia, Cryptorchidism, Omphalocele, C... |
OMIM:247200 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Recurrent lower re... |
ORPHA:86816 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, L... |
OMIM:606407 |
Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Splenomegaly, Skin rash, Autoimmune hemolyt... |
ORPHA:100026 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... |
ORPHA:3226 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid... |
ORPHA:567548 |
Mucopolysaccharidosis Type 3 |
|
Aspiration pneumonia, Urinary glycosaminoglycan excretion, Generalized hirsutism, Hepatomegaly, D... |
ORPHA:581 |
Caroli Disease |
|
Cholestasis, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Weight loss,... |
ORPHA:53035 |
Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Chronic mucocu... |
ORPHA:3453 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Joint contracture of the hand, Foot joint contracture, Failure to thrive, Exocrine pancreatic ins... |
ORPHA:456312 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Decreased circ... |
OMIM:610199 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... |
ORPHA:85450 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, Hyperammonemia... |
OMIM:600649 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis |
OMIM:615294 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Cigarette-paper scars, Periodontitis, Emph... |
OMIM:130050 |
Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Pleural... |
OMIM:613011 |
Somatostatinoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... |
ORPHA:97283 |
Mucopolysaccharidosis Type 6 |
|
Recurrent upper respiratory tract infections, Failure to thrive, Splenomegaly, Hernia, Mucopolysa... |
ORPHA:583 |
Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Pleural effusion, Leukocytosis, Increased circulating procalcitonin concen... |
ORPHA:36238 |
Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis... |
ORPHA:60032 |
Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Congenital diaphragmatic hernia, Abnormali... |
ORPHA:139466 |
22Q11.2 Deletion Syndrome |
|
Cryptorchidism, Hypoparathyroidism, Anal atresia, Hypospadias, Chronic otitis media, Polycystic k... |
ORPHA:567 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... |
ORPHA:77297 |
Cutis Laxa, Autosomal Dominant 1 |
|
Peripheral pulmonary artery stenosis, Emphysema, Inguinal hernia, Uterine prolapse, Bronchiectasis |
OMIM:123700 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Adrenal cortical sclerosis, Recurrent pneumonia, Inflammatory abnormality of the skin,... |
OMIM:102700 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct proliferation, Malfo... |
OMIM:208540 |
Glycogen Storage Disease Ixb |
|
Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr... |
OMIM:261750 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, ... |
OMIM:619183 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormality of neutrophils, Pancytopenia, Abnormal macrophage morp... |
ORPHA:2585 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Ileus, Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, T... |
ORPHA:83469 |
Cat Eye Syndrome |
|
Anal stenosis, Total anomalous pulmonary venous return, Meckel diverticulum, Volvulus, Umbilical ... |
OMIM:115470 |
B4Galt1-Cdg |
|
Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the skin, Sp... |
ORPHA:79332 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Recurrent otitis media, Ankyloglossia, Microcytic anemia, Hepatic steatosis, Elevated circulating... |
OMIM:619525 |
Free Sialic Acid Storage Disease |
|
Failure to thrive in infancy, Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrom... |
ORPHA:834 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Pneumonia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Gas... |
ORPHA:247691 |
Slc35A1-Cdg |
|
Cellulitis, Pneumonia, Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutrop... |
ORPHA:238459 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... |
OMIM:201910 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Neonatal hyperbilirubinemia, Failur... |
ORPHA:90674 |
Marfan Syndrome |
|
High, narrow palate, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Slender bu... |
ORPHA:558 |
Graves Disease |
|
Abnormal abdomen morphology, Graves disease, Goiter, Increased circulating free T3, Polyphagia, W... |
OMIM:275000 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculature, Elevated circu... |
ORPHA:210136 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Duodenal atresia, Polysplenia, Intestinal malrotation, Chronic sinusitis, Chronic otitis media |
OMIM:619608 |
Glucagonoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Acanthocytos... |
ORPHA:97280 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Decreased circulating c... |
OMIM:201450 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Glomerulonephritis |
OMIM:247800 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Recurrent otitis media, Obesity, Hyperc... |
ORPHA:254531 |
Placental Insufficiency |
|
Insulin resistance, Abnormal lung morphology, Small for gestational age |
ORPHA:439167 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity... |
ORPHA:209902 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... |
OMIM:605814 |
Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... |
OMIM:617093 |
Sézary Syndrome |
|
Alopecia, Abnormal pleura morphology, Abnormal lymphocyte morphology, Nail dystrophy, Splenomegal... |
ORPHA:3162 |
Harderoporphyria |
|
Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Increased circulating ferritin con... |
OMIM:618892 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... |
ORPHA:90793 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... |
ORPHA:54251 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Premature graying of hair, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphade... |
ORPHA:79477 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Hepatomegaly, Camptodactyly of finger, Duodenal stenosis |
ORPHA:1759 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... |
ORPHA:96180 |
Pseudo-Torch Syndrome 1 |
|
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Failure to thrive, Dec... |
OMIM:251290 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... |
OMIM:219080 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Malrotation of small bowel, Ventriculomegaly, Functional abnormality of the bladder, Abnormal mes... |
ORPHA:2953 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Gastrointestinal a... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Gastrointestinal a... |
ORPHA:99228 |
Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Gastrointestinal a... |
ORPHA:99226 |
Turner Syndrome |
|
Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Gastrointestinal a... |
ORPHA:881 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Cryptorchidism, Renal salt wasting, Hyperkalemia, Hypospadias, Neonatal hyp... |
ORPHA:90791 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Attention deficit hyperactivity disorder, Recurrent aspiration pneumonia, Gastroesophageal reflux |
OMIM:619971 |
Congenital Syphilis |
|
Pneumonia, Nephrotic syndrome, Keratitis, Hypoglycemia, Extramedullary hematopoiesis, Hepatosplen... |
ORPHA:499009 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... |
OMIM:614300 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
Microvillus Inclusion Disease |
|
Nephrocalcinosis, Villous atrophy, Abnormal renal physiology, Abnormal small intestinal villus mo... |
ORPHA:2290 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cellulitis, Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infec... |
OMIM:614878 |
Classic Mycosis Fungoides |
|
Alopecia, Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Lymphad... |
ORPHA:2584 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia, Obesity |
OMIM:618406 |
Alpha-Mannosidosis, Adult Form |
|
Pneumonia, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Recurrent gastroenteritis, Macro... |
ORPHA:309288 |
Degcags Syndrome |
|
Chronic kidney disease, Oral-pharyngeal dysphagia, Premature graying of hair, Cholestasis, Hepato... |
OMIM:619488 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Weight loss, L... |
ORPHA:100024 |
Oculocerebrorenal Syndrome Of Lowe |
|
Periodontitis, Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Moto... |
ORPHA:534 |
Cystic Fibrosis |
|
Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Nasal polyposis, Failure to thrive, Exocr... |
OMIM:219700 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Ventriculomegaly, Decreased circulating carnitine concentration, Failure to thrive, Abnormal circ... |
ORPHA:431361 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Intestinal lymphangiectasia, Ascites, Intestinal obstruction, Abnormal intestine... |
OMIM:226300 |
Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
OMIM:602390 |
Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
Aicardi-Goutieres Syndrome 4 |
|
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pa... |
OMIM:610333 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin... |
OMIM:620085 |
Congenital Pulmonary Lymphangiectasia |
|
Gastroesophageal reflux, Ascites, Pleural effusion, Splenomegaly, Hepatomegaly |
ORPHA:2414 |
Congenital Contractural Arachnodactyly |
|
Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m... |
ORPHA:115 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, High palat... |
ORPHA:85212 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Ascites, Ga... |
ORPHA:131 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... |
OMIM:617068 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hepatic failure, Hypoglycemia, Hyperammonemia, Splenomegaly, Pyloric stenosis |
ORPHA:664 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... |
OMIM:150550 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... |
OMIM:601457 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... |
OMIM:615285 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Proteinuria, Polyphagia, Episodic hemolytic anemia, I... |
ORPHA:251004 |
14Q11.2 Microduplication Syndrome |
|
Highly arched eyebrow, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Hypothyroid... |
ORPHA:261229 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating aspartate aminotransferase concentration, Hypocholesterolemia, Acanthocytosi... |
OMIM:615558 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Cleft soft palate,... |
OMIM:619321 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio... |
OMIM:619463 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid... |
OMIM:256550 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Joint contracture of the hand, Keratitis, Eczematoid dermatitis, Recurrent otitis media, Eosinoph... |
OMIM:618523 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
OMIM:616860 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypert... |
ORPHA:251274 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Ventriculomegaly, Nephronophthisis, Ch... |
OMIM:615630 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Gastroesophageal reflux, Failure to thrive, Elevated circulating aspartate aminotransferase conce... |
OMIM:615595 |
Sialuria |
|
Inguinal hernia, Splenomegaly, Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplas... |
OMIM:269921 |
Mucopolysaccharidosis, Type Iiib |
|
Recurrent upper respiratory tract infections, Coarse hair, Heparan sulfate excretion in urine, Sp... |
OMIM:252920 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pleural effusion, Skin rash, Splenomegaly, Elevated circulating C-reactive protein concentration,... |
ORPHA:85414 |
Squalene Synthase Deficiency |
|
Elevated urine mesaconic acid level, Bilateral cryptorchidism, Elbow flexion contracture, Hypocho... |
OMIM:618156 |
Lujo Hemorrhagic Fever |
|
Elevated circulating hepatic transaminase concentration, Oliguria, Atelectasis, Lymphopenia, Leuk... |
ORPHA:319213 |
Yellow Nail Syndrome |
|
Nephropathy, Biliary tract neoplasm, Yellow nails, Recurrent respiratory infections, Hypoplasia o... |
ORPHA:662 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
Mucopolysaccharidosis, Type Iiid |
|
Recurrent upper respiratory tract infections, Coarse hair, Elbow flexion contracture, Facial hirs... |
OMIM:252940 |
Immunodeficiency 56 |
|
Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent infect... |
OMIM:615207 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum,... |
OMIM:222100 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... |
ORPHA:93111 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
ORPHA:99901 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Cholestasis, Portal hyperten... |
ORPHA:59303 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentratio... |
OMIM:267700 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Elevated circulating hepatic... |
OMIM:615895 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Ventriculom... |
ORPHA:348 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Atelectasis, Oligosacchariduria, Respiratory tract infection, Elevated circula... |
ORPHA:365 |
Ppoma |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o... |
ORPHA:97278 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... |
OMIM:237800 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Ventriculomegaly, Ascites, Hepatosplenomegaly, Splenomegaly, Decreased body weig... |
OMIM:608013 |
Vipoma |
|
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... |
ORPHA:97282 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... |
OMIM:613027 |
Proteus-Like Syndrome |
|
Bronchogenic cyst, Thymus hyperplasia, Subcutaneous lipoma, Abnormality of the parathyroid gland,... |
ORPHA:2969 |
Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio... |
ORPHA:158061 |
Smith-Magenis Syndrome |
|
Precocious puberty, Self-injurious behavior, Ventriculomegaly, Gastroesophageal reflux, Failure t... |
ORPHA:819 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Decreased serum testosterone concentration, Hypergl... |
ORPHA:465508 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Recurrent upper respiratory tract infe... |
OMIM:618183 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypersplenism, Increased LDL cholesterol concentration, Cirrhosis, Hepatomegaly, Autoimmune throm... |
ORPHA:77293 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Intrahepa... |
OMIM:214950 |
Familial Hyperaldosteronism Type I |
|
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... |
ORPHA:403 |
Cog8-Cdg |
|
Protein-losing enteropathy, Ventriculomegaly, Elevated circulating hepatic transaminase concentra... |
ORPHA:95428 |
Feingold Syndrome |
|
Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas |
ORPHA:1305 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Anorexia, Elevated circulating... |
ORPHA:50918 |
Avian Influenza |
|
Hypoalbuminemia, Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Ac... |
ORPHA:454836 |
Hurler-Scheie Syndrome |
|
Umbilical hernia, Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of the... |
OMIM:607015 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Highly arched eyebrow, Pulmonary hypoplasia, Hepatic sinusoidal dilatation, Dilated third ventric... |
OMIM:620371 |
Hurler Syndrome |
|
Recurrent respiratory infections, Umbilical hernia, Recurrent otitis media, Heparan sulfate excre... |
OMIM:607014 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... |
OMIM:243700 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive ... |
ORPHA:273 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,... |
OMIM:263200 |
Adnp Syndrome |
|
Abnormal temper tantrums, High anterior hairline, Gastroesophageal reflux, Ventriculomegaly, Recu... |
ORPHA:404448 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Inflammatory abnormality of the eye, Weight loss, Hepatomegaly, Panniculitis |
ORPHA:33577 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Alopecia, Breast aplasia, Abnormal eyebrow morphology, Hyperlipidemia, Absent... |
ORPHA:90153 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... |
OMIM:618999 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Alopecia, Hypom... |
OMIM:175500 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxylic aciduria, Hyp... |
OMIM:212138 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
Trisomy 18P |
|
High, narrow palate, Highly arched eyebrow, Bilateral cryptorchidism, Polyphagia, Attention defic... |
ORPHA:1715 |
Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... |
OMIM:232220 |
Oculopharyngodistal Myopathy |
|
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Recurrent aspiration pn... |
ORPHA:98897 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Hypocholesterolemia, Micropenis, Brittle hair, Hepatomegaly, Hydrocele testis |
OMIM:618810 |
Aromatase Deficiency |
|
Insulin resistance, Obesity, Type II diabetes mellitus, Hyperlipidemia, Hepatic steatosis, Eunuch... |
ORPHA:91 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse hair, Focal segmental glomerulosclerosis, Sparse eyebrow, Elevated circulating hepatic tra... |
OMIM:619127 |
3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, Failure to thrive, Normochromic microcytic anemia, Elevated circulatin... |
OMIM:610198 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti... |
OMIM:608184 |
Pachydermoperiostosis |
|
Peptic ulcer, Gastrointestinal hemorrhage, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Ab... |
ORPHA:2796 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephritis, Gastrointestinal hemorrhage, Nephrotic syndrome, Malar rash, Chronic noninfectious lym... |
OMIM:603909 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Highly arched eyebrow, Cryptorchidism, Generalized hirsutism, Polyphagia... |
ORPHA:228402 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Self-mutilation, Polyphagia, Aggressive behavior, Hydrocephalus |
OMIM:616521 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Recurrent pneumonia, Polysplenia, Oti... |
OMIM:613807 |
Trigonocephaly 1 |
|
High, narrow palate, Long penis, Meckel diverticulum, Omphalocele, Synophrys |
OMIM:190440 |
Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... |
ORPHA:3348 |
Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of... |
ORPHA:79318 |
Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Anorexia, Hep... |
ORPHA:391 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Hypopigmentation of hair, Obesity, Polyphagia |
ORPHA:177910 |
Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Addictive alcohol use, Elevated circulating C-reactive pr... |
ORPHA:178320 |
Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infecti... |
OMIM:618131 |
Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Recurrent upper respiratory tract infections, Umbilical hernia, Inguinal hernia, Splen... |
OMIM:253200 |
Plasminogen Deficiency, Type I |
|
Nephritis, Ventriculomegaly, Recurrent upper respiratory tract infections, Periodontitis, Nephrol... |
OMIM:217090 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cholestasis, Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Reduced subcutaneous ... |
OMIM:619503 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failu... |
OMIM:603553 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Chronic bronchitis, B lymphocytopenia, H... |
OMIM:614069 |
Bloom Syndrome |
|
Recurrent upper respiratory tract infections, Small for gestational age, Hypertrichosis, Malar ra... |
OMIM:210900 |
Gm1 Gangliosidosis Type 1 |
|
Abnormal odontoid tissue morphology, Aspiration pneumonia, Hepatosplenomegaly, Urinary glycosamin... |
ORPHA:79255 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Dyskeratosis Congenita |
|
Periodontitis, White hair, Premature graying of hair, Displacement of the urethral meatus, Cirrho... |
ORPHA:1775 |
Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Intes... |
OMIM:615237 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Gastroesophageal reflux, Atelectasis, Protruding tongue, Decreased body weight, Increased connect... |
ORPHA:258 |
Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ... |
OMIM:619350 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Ventriculomegaly, Micronodular cirrhosis, Aspiration pneumonia, Ascites, Splenom... |
OMIM:301072 |
Stromme Syndrome |
|
Accessory spleen, Bilateral renal hypoplasia, Intestinal malrotation, Jejunal atresia, Hydronephr... |
OMIM:243605 |
Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... |
ORPHA:2302 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Increased circulating copper concentration, Cirrhosis, Copper accumulation in ... |
ORPHA:209919 |
Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephroti... |
OMIM:105200 |
Ogden Syndrome |
|
Recurrent otitis media, Hyperbilirubinemia, Cryptorchidism, Pulmonary edema, Jaundice, Minimal su... |
OMIM:300855 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Schnitzler Syndrome |
|
Leukocytosis, Skin rash, Splenomegaly, Anemia, Lymphadenopathy, Arthritis, Hepatomegaly |
ORPHA:37748 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Dysphagia |
ORPHA:2590 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Ventriculomegaly, Gastroesophageal reflux, Small for gestational age, ... |
ORPHA:464306 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Nephrolithiasis, Hypokalemia, Abnormal circu... |
ORPHA:369929 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Inappropriate laughter, Obesity, Polyphagia, Hyperactivity, Hypopigmentation of hair |
ORPHA:411515 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Adams-Oliver Syndrome 5 |
|
Dystrophic toenail, Umbilical hernia, Hypersplenism, Inguinal hernia, Splenomegaly, Portal vein t... |
OMIM:616028 |
Congenital Macroglossia |
|
Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Re... |
ORPHA:20 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... |
ORPHA:139402 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Recurrent respiratory infections, Cryptorchidism, Increased connective tissue, Micrope... |
ORPHA:98905 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... |
OMIM:613070 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Cryptorchidism, Low posterior hairline, High palate, Hypospadias... |
OMIM:122470 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Pleural empyema, Intestinal perforation, Acute kidney injury, Anuria, Gastrointesti... |
ORPHA:544482 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Spontaneous pneumothorax, Hydrocele testis, Synophrys |
OMIM:618154 |
Autoimmune Polyendocrinopathy Type 4 |
|
Rheumatoid arthritis, Xerostomia, Iridocyclitis, Tubulointerstitial nephritis, Celiac disease, Au... |
ORPHA:227990 |
Joubert Syndrome 10 |
|
Obesity, Frequent temper tantrums, Decreased body weight, Hirsutism, Polyphagia |
OMIM:300804 |
X-Linked Sideroblastic Anemia |
|
Elevated circulating hepatic transaminase concentration, Glucose intolerance, Splenomegaly, Anemi... |
ORPHA:75563 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegal... |
OMIM:619824 |
Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Highly arched eyebrow, Multicystic kidney dysplasia, Elevated circulating hepatic tr... |
ORPHA:1454 |
Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Bronchiolitis, Failure to thrive, Splenomegaly, Anemia, Thrombocytopenia... |
OMIM:230900 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Congenital diaphragmatic hernia, Abnormal gastrointe... |
ORPHA:2847 |
Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Truncal obesity |
OMIM:620639 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia, Fat malabsorption |
OMIM:614338 |
Mucopolysaccharidosis, Type Vii |
|
Recurrent upper respiratory tract infections, Coarse hair, Umbilical hernia, Recurrent otitis med... |
OMIM:253220 |
Hurler Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Thick eyebrow, Splenomegaly, Hernia, G... |
ORPHA:93473 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Duodenal atresia, Abnormal lung lobation, Decreased response to growth hormone stimulation test, ... |
OMIM:614114 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... |
ORPHA:79076 |
Mucopolysaccharidosis Type 7 |
|
Hepatitis, Umbilical hernia, Ascites, Abnormal pleura morphology, Splenomegaly, Inguinal hernia, ... |
ORPHA:584 |
Autoimmune Polyendocrinopathy Type 3 |
|
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia... |
ORPHA:227982 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Cystinuria, Failure to thrive, Nephrolithiasis |
ORPHA:163690 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Increased serum pyruvate, Hy... |
OMIM:619046 |
Immunodeficiency 42 |
|
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of... |
OMIM:616622 |
Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Sea-blue histiocytosis, Bone-marrow foam cells, Splenomegaly, Hepatomegaly, Motor ... |
OMIM:607625 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Hermansky-Pudlak Syndrome 2 |
|
Albinism, Recurrent pneumonia, Gastroesophageal reflux, Periodontitis, Fair hair, Enlarged platel... |
OMIM:608233 |
Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Abscess, Pustule, Elevated ... |
OMIM:612852 |
Gaisböck Syndrome |
|
Increased red blood cell count, Peptic ulcer, Nephrocalcinosis, Increased mean corpuscular hemogl... |
ORPHA:90041 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff... |
ORPHA:91138 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Lymphadenopathy,... |
ORPHA:98848 |
6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow |
ORPHA:171829 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceri... |
OMIM:615947 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Polydipsia, Dilated fourth ventricle, Stage 5 chronic kidney ... |
OMIM:243910 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Renal hypoplasia, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder... |
OMIM:620439 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
High, narrow palate, Insulin resistance, Premature adrenarche, Gastroesophageal reflux, Precociou... |
ORPHA:96182 |
Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Leukocytosis, Renal insufficiency, A... |
ORPHA:457077 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Hepatic steatosis, Elevated circulating creatine kinase co... |
ORPHA:52430 |
Silver-Russell Syndrome |
|
Insulin resistance, Premature adrenarche, Precocious puberty, Gastroesophageal reflux, Recurrent ... |
ORPHA:813 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Failure to thrive, Protruding tongue, Chronic bronc... |
OMIM:242860 |
Familial Hyperaldosteronism Type Ii |
|
Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, G... |
ORPHA:404 |
Chops Syndrome |
|
High, narrow palate, Gastroesophageal reflux, Coarse hair, Aspiration pneumonia, Horseshoe kidney... |
OMIM:616368 |
Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Recurrent upper respiratory tract infections, Annular pa... |
ORPHA:264450 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Abnormal ... |
ORPHA:449395 |
Ciliary Dyskinesia, Primary, 9 |
|
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... |
OMIM:612444 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Renal Fa... |
ORPHA:53693 |
Coach Syndrome 1 |
|
Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat... |
OMIM:216360 |
Familial Mediterranean Fever |
|
Neutrophilia, Erysipelas, Stage 5 chronic kidney disease, Pleural effusion, Splenomegaly, Leukocy... |
OMIM:249100 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... |
OMIM:611762 |
7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Polyphagia, High palate, Motor stereotypy, Hypos... |
ORPHA:96121 |
Immunodeficiency 77 |
|
Cellulitis, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess |
OMIM:619223 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Pneumonia, Recurrent upper respiratory tract infections, Absent natural killer cells, Failure to ... |
OMIM:600802 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatitis, Absence of lymph node germinal center, Failure to thrive, Hemolytic anemia, Splenomega... |
OMIM:308230 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Flexion contracture, Right ventricular hypertrophy, Elevated circulating creatine kina... |
OMIM:253700 |
X-Linked Centronuclear Myopathy |
|
Pneumonia, High palate, Recurrent respiratory infections |
ORPHA:596 |
Mosaic Variegated Aneuploidy Syndrome |
|
Ventriculomegaly, Multicystic kidney dysplasia, Abnormal lung lobation, Ascites, Stomach cancer, ... |
ORPHA:1052 |
Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep... |
OMIM:620296 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Recurrent aspiration pneumonia, Ventriculomegaly, Gastroesophageal reflux, Elevated circulating h... |
ORPHA:73230 |
Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... |
ORPHA:98908 |
Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:133180 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hyperuricemia, Hirsutism, Hypothyroidism, Hypercholest... |
ORPHA:77296 |
Angelman Syndrome |
|
Self-injurious behavior, Gastroesophageal reflux, Precocious puberty in females, Fair hair, Delay... |
ORPHA:72 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Alopecia, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusit... |
OMIM:616576 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hypoketotic hypoglycemia, Hepatic necrosis, Fulminant hepatic failure, Hep... |
OMIM:231530 |
Gaucher Disease |
|
Pancytopenia, Hematuria, Cirrhosis, Elevated circulating C-reactive protein concentration, Hepato... |
ORPHA:355 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Lateral ventricle dilatation, Cholestasis, Hyperbilirubinemia, Dark urine, Congenital hepatic fib... |
OMIM:619534 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:616589 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Highly arched eyebrow, Hypospadias, Ketonuria, Failure to thrive, Anteriorly placed anus, Hypogly... |
OMIM:220111 |
Lactase Deficiency, Congenital |
|
Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Hypocholesterolemia, Psoriasiform dermatitis, Decreased LDL cholesterol concen... |
OMIM:616834 |
Cystic Fibrosis |
|
Nasal polyposis, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration... |
ORPHA:586 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob... |
ORPHA:1333 |
Vascular Hyalinosis |
|
Premature graying of hair, Protein-losing enteropathy, Hematochezia, Chorioretinal scar |
OMIM:277175 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Small for gestational age, Aspiration pneumonia |
OMIM:619057 |
Kagami-Ogata Syndrome |
|
Frontal hirsutism, Splenomegaly, Inguinal hernia, Omphalocele, Hepatomegaly, Flexion contracture,... |
OMIM:608149 |
Relapsing Polychondritis |
|
Alopecia, Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Atelectasis, Recurrent aphthous ... |
ORPHA:728 |
Pick Disease Of Brain |
|
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition |
OMIM:172700 |
Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Hypercholesterolemia, Delayed puberty, Osteoar... |
ORPHA:633 |
Timothy Syndrome |
|
Pneumonia, Bronchitis, Hypoglycemia, Hypocalcemia, Cardiomegaly, Hypothyroidism |
OMIM:601005 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Fine ha... |
OMIM:222700 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron... |
OMIM:618282 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Decreased ... |
OMIM:615954 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Ventriculomegaly, Gastroesophageal reflux, Small for gestational age, ... |
ORPHA:464311 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Hydr... |
OMIM:300048 |
Trichohepatoneurodevelopmental Syndrome |
|
Recurrent otitis media, Increased serum bile acid concentration, Decreased body weight, Curly hai... |
OMIM:618268 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent hypoglycemia, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Recurr... |
ORPHA:293978 |
Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Reduced natural killer cell count, Failure to thrive, Skin r... |
OMIM:618108 |
Tangier Disease |
|
Decreased HDL cholesterol concentration, Nail dystrophy, Splenomegaly, Elevated circulating apoli... |
OMIM:205400 |
Fucosidosis |
|
Failure to thrive, Recurrent respiratory infections, Oligosacchariduria, Thick eyebrow, Splenomeg... |
OMIM:230000 |
Macrocephaly/Autism Syndrome |
|
Coarse hair, Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Penile frec... |
OMIM:605309 |
Heterotaxy, Visceral, 5, Autosomal |
|
Total anomalous pulmonary venous return, Renal hypoplasia, Pulmonary artery atresia, Abdominal si... |
OMIM:270100 |
Helsmoortel-Van Der Aa Syndrome |
|
Lateral ventricle dilatation, Ankyloglossia, Cryptorchidism, Polyphagia, Motor stereotypy, Dyspha... |
OMIM:615873 |
American Trypanosomiasis |
|
Skin rash, Splenomegaly, Infectious encephalitis, Aganglionic megacolon, Achalasia, Lymphadenopat... |
ORPHA:3386 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Sp... |
ORPHA:824 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Self-injurious behavior, Ankle flexion contracture, Ventriculomegaly, Unilateral renal agenesis, ... |
ORPHA:468631 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Waardenburg Syndrome Type 3 |
|
Atelectasis, Thick eyebrow, White hair, Camptodactyly of finger |
ORPHA:896 |
Hajdu-Cheney Syndrome |
|
Coarse hair, Periodontitis, Failure to thrive, Umbilical hernia, Intestinal malrotation, Thick ey... |
ORPHA:955 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Hyperglycemia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity |
OMIM:615986 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
Familial Adenomatous Polyposis |
|
Stomach cancer, Hepatoblastoma, Desmoid tumors, Neoplasm of the adrenal gland, Colorectal polypos... |
ORPHA:733 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis |
ORPHA:86884 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... |
ORPHA:66634 |
Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Prominent eyelashes, Hypertrichosis, Aspiration pne... |
ORPHA:1465 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Alopecia, Hepatic steatosis |
OMIM:275630 |
Man1B1-Cdg |
|
Sparse eyebrow, Abnormal position of hair whorl, Long eyelashes, Polyphagia, Truncal obesity, Lon... |
ORPHA:397941 |
Familial Nasal Acilia |
|
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... |
ORPHA:922 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to th... |
OMIM:210200 |
Dubowitz Syndrome |
|
Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insufficiency, Sparse lateral eyebrow, E... |
OMIM:223370 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... |
OMIM:276700 |
Roifman-Chitayat Syndrome |
|
Pneumonia, Ventriculomegaly, Umbilical hernia, Arthritis, Ectopic kidney |
OMIM:613328 |
Poikiloderma With Neutropenia |
|
Sparse eyebrow, Recurrent pneumonia, Sparse lateral eyebrow, Recurrent otitis media, Leukopenia, ... |
OMIM:604173 |
Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... |
ORPHA:48435 |
Cinca Syndrome |
|
Abnormality of neutrophils, Leukocytosis, Splenomegaly, Inflammatory abnormality of the eye, Anem... |
ORPHA:1451 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
Spondyloenchondrodysplasia |
|
Pneumonia, Chronic kidney disease, Ventriculomegaly, Granuloma, Hepatitis, Decreased response to ... |
ORPHA:1855 |
Kleine-Levin Syndrome |
|
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... |
ORPHA:33543 |
Porphyria, Congenital Erythropoietic |
|
Joint contracture of the hand, Atypical scarring of skin, Cholelithiasis, Alopecia, Conjunctiviti... |
OMIM:263700 |
Meconium Aspiration Syndrome |
|
Pneumothorax, Maternal diabetes, Atelectasis, Aspiration pneumonia |
ORPHA:70588 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hypospadias, Ventriculomegaly, Small for gestational age, Multicystic kidney dysplasia, Cryptorch... |
OMIM:257300 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Inguinal hernia, Low anterior hairline, Hernia, Generalized hirsutism, Mucopolysacc... |
ORPHA:579 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin... |
ORPHA:230 |
Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Trichorrhexis nodosa, Lymphopen... |
OMIM:616395 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre... |
OMIM:301078 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... |
OMIM:603902 |
Farber Lipogranulomatosis |
|
Failure to thrive, Splenomegaly, Lipogranulomatosis, Arthritis, Hepatomegaly |
OMIM:228000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Decreased liver function, Failure to thrive, Hyperphosphaturia, Renal ... |
OMIM:220110 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic... |
ORPHA:848 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:614924 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Decreased liver function, Renal insufficiency, Hepatic steatosis, Renal tubular... |
OMIM:614922 |
Marbach-Rustad Progeroid Syndrome |
|
Insulin resistance, Reduced subcutaneous adipose tissue |
OMIM:619322 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Keratitis, Failure to thrive, Aspir... |
ORPHA:1018 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Chilblains, Self-mutilatio... |
OMIM:225750 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Intermittent jaundice |
OMIM:179700 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Sp... |
OMIM:607626 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Recurrent otitis media, Slender build, Increased s... |
ORPHA:3455 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Highly arched eyebrow, Gastroesophageal reflux, Bruxism, Long eyelashes,... |
OMIM:156200 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Alopecia, Aplastic anemia, Oral leukoplakia, Increased mean corpuscu... |
OMIM:127550 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Cystic pattern on pu... |
OMIM:610978 |
Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Abnorm... |
ORPHA:398124 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Hepatosplenomegaly, Thrombocytosis, Erythroderma, Neutrophi... |
ORPHA:3260 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Proximal tu... |
OMIM:229600 |
Meckel Syndrome, Type 1 |
|
Abnormality of the ureter, Cryptorchidism, Anal atresia, Polycystic kidney dysplasia, Bile duct p... |
OMIM:249000 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Decreased liver function, Failure to thrive, Hyperphosphaturia, Renal ... |
ORPHA:436271 |
Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Micropenis, Uni... |
OMIM:300219 |
Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Lymphatic Malformation 6 |
|
Cellulitis, Gastroesophageal reflux, Chylothorax, Intestinal lymphangiectasia, Ascites, Pleural e... |
OMIM:616843 |
Luscan-Lumish Syndrome |
|
Ventriculomegaly, High anterior hairline, Recurrent otitis media, Obesity, Hirsutism, Polycystic ... |
OMIM:616831 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lateral ventricle dilatation, Elbow flexion contracture, Large for gestational age, Vesicouretera... |
OMIM:300868 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Pancreatitis, Hypercholesterolemia... |
OMIM:207750 |
Familial Mediterranean Fever |
|
Nephropathy, Acute hepatic failure, Intestinal obstruction, Nephrotic syndrome, Erysipelas, Ascit... |
ORPHA:342 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... |
ORPHA:766 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia, Follicular hype... |
OMIM:601859 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm... |
OMIM:602347 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cholestasis, Hepatosplenomegaly, Cryptorchidism, Elevated circulating alanine aminotransferase co... |
OMIM:614866 |
Congenital Tracheal Stenosis |
|
Fetal ascites, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Abnormal stomach... |
ORPHA:141127 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Elevated... |
OMIM:615356 |
Gardner Syndrome |
|
Gastrointestinal carcinoma, Keloids, Lipoma, Adrenocortical adenoma, Adenomatous colonic polyposi... |
ORPHA:79665 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypokalem... |
OMIM:613677 |
Plague |
|
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Enlarged mesenteric lymph node, ... |
ORPHA:707 |
Chédiak-Higashi Syndrome |
|
Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypopro... |
ORPHA:167 |
Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Lymphopenia, Esophagitis, Decreased proportion of CD4-... |
ORPHA:443811 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cellulitis, Hematochezia, Inflammation of the large intestine, Recurrent pneumonia, Decreased mea... |
OMIM:617718 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Listeriosis |
|
Arteritis, Abscess, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomyelitis, Peritoni... |
ORPHA:533 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Cryptorchidism, Sparse eyelashes, Absent eyelashes, Absent e... |
OMIM:264090 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:103900 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Intestinal atresia, Duodenal atresia |
ORPHA:3405 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia, Anterior uveitis |
OMIM:616744 |
Frontotemporal Dementia |
|
Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:600274 |
Sepsis In Premature Infants |
|
Oliguria, Decreased liver function, Functional abnormality of the gastrointestinal tract, Leukocy... |
ORPHA:90051 |
Alpha-Mannosidosis, Infantile Form |
|
Pneumonia, Highly arched eyebrow, Oligosacchariduria, Umbilical hernia, Hepatosplenomegaly, Pancy... |
ORPHA:309282 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ankyloglossia, Hyperbilirubinemia, Hepatic steatosis, Decreased body weight, Hematuria, Jaundice,... |
OMIM:619475 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Pancreatitis, Diabetic ketoacidosis |
ORPHA:70578 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy... |
ORPHA:158029 |
Hennekam Syndrome |
|
Chylothorax, Erysipelas, Camptodactyly of finger, Ascites, Lymphopenia, Horseshoe kidney, Splenom... |
ORPHA:2136 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Leukemia, Pleural effusion, Splenomegaly, Renal i... |
ORPHA:33226 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Colonic Atresia |
|
Peptic ulcer, Abdominal situs inversus, Colonic atresia, Duodenal stenosis, Abnormal mesentery mo... |
ORPHA:1198 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Joint contracture of the 5th finger, Flexion contracture of finger, Hepatomeg... |
OMIM:602782 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Splenomegaly, Reduced ... |
OMIM:210250 |
Gm1-Gangliosidosis, Type Ii |
|
Ventriculomegaly, Failure to thrive, Sea-blue histiocytosis, Splenomegaly, Protruding tongue, Hep... |
OMIM:230600 |
Immunodeficiency 13 |
|
Recurrent pneumonia, Recurrent upper respiratory tract infections, Nasal polyposis, Recurrent oti... |
OMIM:615518 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Glucose intoleranc... |
ORPHA:785 |
Fetal Cytomegalovirus Syndrome |
|
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegal... |
ORPHA:294 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
Mitochondrial Trifunctional Protein Deficiency |
|
Cholestasis, Failure to thrive in infancy, Hypoketotic hypoglycemia, Hypocalcemia, Chronic hepati... |
ORPHA:746 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ... |
ORPHA:231580 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis |
OMIM:615561 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Gastroesophageal reflux, Failure to thrive, Decreased liver function, Hypertrichosis, Hypoglycemi... |
OMIM:608779 |
Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Recurrent upper respirat... |
OMIM:232240 |
Good Syndrome |
|
Thymoma, Mediastinal lymphadenopathy, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morpho... |
ORPHA:169105 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... |
OMIM:618329 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Failure to thrive, Hepatosple... |
OMIM:606003 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Ventriculomegaly, Abnormal temper tantr... |
ORPHA:2072 |
Immunodeficiency 36 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem... |
OMIM:616005 |
Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... |
OMIM:164280 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... |
OMIM:615631 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Peptic ulcer, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chr... |
ORPHA:98849 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Splenomegaly, A... |
OMIM:615234 |
Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat... |
OMIM:619481 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, ... |
ORPHA:90301 |
Chronic Graft Versus Host Disease |
|
Xerostomia, Pancytopenia, Hematuria, Weight loss, Anorexia, Bronchiolitis obliterans, Dysphagia, ... |
ORPHA:99921 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... |
ORPHA:786 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Decreased response to growth ... |
OMIM:307200 |
Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Hepatic failure, Elevated circulating hepatic transaminase co... |
OMIM:118450 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Xerostomia, Oral-pharyngeal dysphagia, Hematuria, Neutropen... |
ORPHA:95455 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Reduced nat... |
OMIM:619752 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Motor stereotypy, Dysphagia, Aspiration pneumonia |
ORPHA:79264 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level, A... |
OMIM:613673 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Meckel diverticulum, Hydrocephalus, Dysphagia, Dandy-Walker malformation |
ORPHA:163961 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:231154 |
Hennekam-Beemer Syndrome |
|
Pneumonia, Mastocytosis, Ventriculomegaly, Failure to thrive, Camptodactyly of finger, High palate |
ORPHA:2135 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Gastrointestinal carcinoma, Adrenocortical adenoma, Duodenal adenocarcinoma, Duodenal polyposis, ... |
ORPHA:247806 |
Weaver Syndrome |
|
Joint contracture of the hand, Ventriculomegaly, Lateral ventricle dilatation, Fine hair, Umbilic... |
OMIM:277590 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Punctate keratit... |
OMIM:617388 |
Glycogen Storage Disease Ii |
|
Urinary incontinence, Pleural effusion, Splenomegaly, Elevated circulating creatine kinase concen... |
OMIM:232300 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias |
OMIM:201710 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormal circulating protein concentra... |
ORPHA:103910 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast... |
OMIM:619079 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Ventriculomegaly, Umbilical hernia, Intestinal malrotation, Atrophic scars, Cryptorchidism, Hiatu... |
OMIM:601776 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Bifid uvula, Recurrent pneumonia, Fixated interests, Eczematoid dermatit... |
OMIM:620330 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Abnormal blood ion concentration, ... |
ORPHA:79404 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Fail... |
OMIM:124000 |
Hermansky-Pudlak Syndrome 10 |
|
Albinism, Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary interstitial morphology, Re... |
OMIM:617050 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Fat malabso... |
ORPHA:309108 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventriculomegaly, Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Widow's peak, Vesic... |
OMIM:616975 |
Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Honey... |
ORPHA:2032 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Splenomegaly, Leukocyt... |
OMIM:618042 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Lymph node hypoplasia, Rec... |
OMIM:300755 |
Familial Adenomatous Polyposis 1 |
|
Keloids, Adrenocortical adenoma, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric po... |
OMIM:175100 |
Desmosterolosis |
|
Bifid uvula, Ventriculomegaly, Failure to thrive, Intestinal malrotation, Splenomegaly, Submucous... |
ORPHA:35107 |
X-Linked Acrogigantism |
|
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... |
ORPHA:300373 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Fine hair, Decreased testicular size, Cryptorchidism, Self-mutilation, Polyphagia, ... |
ORPHA:251028 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Hypertrichosis, Submucous cleft hard palate, Low posterior hairline, A... |
OMIM:619227 |
Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... |
ORPHA:79444 |
Charge Syndrome |
|
Lymphopenia, Cryptorchidism, Hypoparathyroidism, Anal atresia, Dysphagia, Duodenal atresia, Parat... |
OMIM:214800 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis |
OMIM:616672 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
Prolidase Deficiency |
|
White forelock, Splenomegaly, Low anterior hairline, Generalized hirsutism, Hirsutism, Crusting e... |
ORPHA:742 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Failure to thrive in infancy, Corneal scarring, Frontal upsweep of hair, Ure... |
OMIM:301220 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Gastroesophageal reflux, Joint contracture of the 5th finger, Hepatic steatosis, Attention defici... |
OMIM:619934 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Pleural effusion, Splenomegaly, Lymphangioma, Abnormality of the lymphatic sy... |
ORPHA:464329 |
Niemann-Pick Disease Type C |
|
Hepatic failure, Fetal ascites, Aspiration pneumonia, Ascites, Hepatosplenomegaly, Abnormality of... |
ORPHA:646 |
Cryptococcosis |
|
Pneumonia, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritonitis, Cirrh... |
ORPHA:1546 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... |
ORPHA:309854 |
Gaucher Disease, Type I |
|
Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Abnormal pulmo... |
OMIM:230800 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Pulmonary edema, Hematuria, Glo... |
ORPHA:340 |
Estrogen Resistance |
|
Breast aplasia, Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Polycystic ovar... |
OMIM:615363 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hyperglycemia, Leukocytosis, Left ventricular hypertrophy, Hypothyroidism, Hyper... |
ORPHA:90065 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Nail dystrophy, L... |
ORPHA:31150 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, High palate, Cleft palate |
OMIM:300484 |
Cranioectodermal Dysplasia 2 |
|
Sparse eyebrow, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary... |
OMIM:613610 |
Beckwith-Wiedemann Syndrome |
|
Nephropathy, Congenital diaphragmatic hernia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Neona... |
ORPHA:116 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Immunodeficiency 12 |
|
Recurrent aphthous stomatitis, Skin rash, Decreased body weight, Abnormal lymphocyte count, Recur... |
OMIM:615468 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Dicarboxy... |
OMIM:611126 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... |
OMIM:616217 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Intestinal malrotation, Frontal upsweep of hair, Cryptorchidism, Hydronephrosis, Gastrointestinal... |
OMIM:617798 |
Tarp Syndrome |
|
Failure to thrive, Extramedullary hematopoiesis, Horseshoe kidney, Thick eyebrow, Cryptorchidism,... |
ORPHA:2886 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis |
ORPHA:70587 |
Metachromatic Leukodystrophy |
|
Addictive behavior, Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladd... |
ORPHA:512 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia, Recurrent otitis media, Emphys... |
OMIM:245150 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... |
ORPHA:158048 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Sparse eyebrow, Recurrent pneumonia, Failure to thrive, Umbi... |
OMIM:252500 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Infantile Neuroaxonal Dystrophy |
|
Aspiration pneumonia, Hyperactivity, Choking episodes, Flexion contracture, Impulsivity |
ORPHA:35069 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cholestasis, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentration, Ele... |
OMIM:620376 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent pneumonia, Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepa... |
ORPHA:35078 |
Ciliary Dyskinesia, Primary, 35 |
|
Recurrent pneumonia, Bronchiectasis, Nasal polyposis, Abdominal situs ambiguus, Chronic sinusitis... |
OMIM:617092 |
Kaufman Oculocerebrofacial Syndrome |
|
Sparse eyebrow, Ventriculomegaly, Failure to thrive, Intestinal malrotation, Hypocholesterolemia,... |
OMIM:244450 |
Riddle Syndrome |
|
Pneumonia, Enuresis nocturna, Recurrent pneumonia, Bronchitis, Otitis media, Recurrent sinusitis,... |
ORPHA:420741 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Aspiration pneumonia, Left ventricular hypertrophy, Lacticaciduria, Hepatomegaly |
OMIM:619167 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Erythroi... |
OMIM:266200 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Attention deficit hyperactivity disorder, Weight loss, Dysphagia, Aspiration pneumonia |
ORPHA:216866 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Microcolon, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology, Ileus, Splenome... |
ORPHA:163746 |
Renal Glucosuria |
|
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria |
OMIM:233100 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... |
OMIM:616730 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Gastroesophageal reflux, Asp... |
ORPHA:79500 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypochromic anemia, Elevated circulating parathyroid hormone level, Fa... |
ORPHA:289157 |
Immunodeficiency 23 |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent respirator... |
OMIM:615816 |
Fanconi Anemia |
|
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Weight loss, High palate, Anal atresia, Hypospad... |
ORPHA:84 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Osteomyelitis, Pancytopenia, Splenomegaly, Hypocalcemia, Anemia, Hydrocephalus... |
OMIM:259700 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowe... |
OMIM:158310 |
Opitz Gbbb Syndrome |
|
Ankyloglossia, Congenital diaphragmatic hernia, Cryptorchidism, Anal atresia, High palate, Hyposp... |
ORPHA:2745 |
Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne... |
OMIM:257220 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Unilateral renal agenesis, Ventriculomegaly, Gastroesophageal reflux, Reduced natural killer cell... |
ORPHA:221139 |
Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Functional abnormality of the gastrointestinal tract, Elevated ... |
ORPHA:29073 |
Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Hyperphosphatemia, Elevated circulating parathyroid horm... |
ORPHA:79443 |
Atelis Syndrome 2 |
|
Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... |
OMIM:620185 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Lateral ventricle dilatation, Abnormality of the hairline, Cryptorchidism, Polyphagia, High palat... |
OMIM:607872 |
Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Eczematoid dermatitis, Sta... |
OMIM:618348 |
Hypercholanemia, Familial 1 |
|
Steatorrhea, Fat malabsorption, Failure to thrive, Increased serum bile acid concentration |
OMIM:607748 |
Behçet Disease |
|
Weight loss, Anorexia, Endocarditis, Gastrointestinal hemorrhage, Pleural effusion, Renal insuffi... |
ORPHA:117 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Abnormality of exocrine pancreas physiology, Recurrent bronchiolitis, Bronchiectasis, Chronic bro... |
OMIM:613021 |
Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome... |
OMIM:219800 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Elevated circulating parathyroid hormone level, Failure to thrive, Polydipsia, Spl... |
OMIM:239200 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Osteomyelitis, Hepatosplenomegaly, Optic neuritis, Neutropenia, B lymphocytopenia, Pa... |
OMIM:301081 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Anemia, Hydrocephalus, Hepatomegaly, Pericarditis |
ORPHA:163596 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Splenomegaly, Reduced hapto... |
OMIM:611881 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Aminoaciduria, Renal hypoplasia, Gastroesophageal reflux, Nephrocalcinosis, Renal artery stenosis... |
OMIM:617913 |
Cleft Velum |
|
Velopharyngeal insufficiency, Oral-pharyngeal dysphagia, Aspiration pneumonia, Recurrent otitis m... |
ORPHA:99772 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Recurrent sinusitis, T lymp... |
OMIM:607944 |
Microform Holoprosencephaly |
|
Panhypopituitarism, Hypothyroidism, Maternal diabetes, Hypoplasia of penis, Duodenal atresia, Cle... |
ORPHA:280200 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir... |
OMIM:613471 |
Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Reduced haptoglobin level, Increased connective tissue, Keratoconjunctivit... |
ORPHA:79277 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Cryptorchidism, Motor stereotypy, Hypospadias, Self-injurious behavior, Keloids, Gastroesophageal... |
ORPHA:353281 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Duodenal stenosis |
ORPHA:2547 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Dilated third ventricle, Gastroesophageal reflux, Elevated circulating hepatic ... |
ORPHA:397715 |
Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ... |
ORPHA:94093 |
Bronchiolitis Obliterans |
|
Pneumonia, Respiratory tract infection, Bronchiolitis obliterans, Bronchiectasis |
ORPHA:1303 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Alopecia, Atrichia, Decreased testicular size, Nail dystrophy, Cryptorchidism, Congeni... |
ORPHA:1867 |
Visceral Myopathy 1 |
|
Microcolon, Intestinal pseudo-obstruction, Urinary retention, Megacystis, Megaduodenum, Vesicoure... |
OMIM:155310 |
Fish-Eye Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration |
ORPHA:79292 |
Coffin-Siris Syndrome 1 |
|
Facial hypertrichosis, Dry hair, Congenital diaphragmatic hernia, Cryptorchidism, Dandy-Walker ma... |
OMIM:135900 |
Mucopolysaccharidosis Type 2 |
|
Hip osteoarthritis, Recurrent upper respiratory tract infections, Abnormal temper tantrums, Contr... |
ORPHA:580 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorc... |
OMIM:312870 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Failure to thrive, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hepatomegaly,... |
OMIM:612132 |
Pneumocystosis |
|
Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Weight loss, Acute infectio... |
ORPHA:723 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Hypogonadism, Decreased testicular size, Decreased serum testosterone concentr... |
OMIM:201100 |
Mounier-Kühn Syndrome |
|
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections |
ORPHA:3347 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Thin eyebrow, Vesicoure... |
OMIM:617063 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Hydron... |
ORPHA:210122 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Nasal polyposis, Recurrent sinusitis, Chronic rhinitis, Bronchiectasis |
OMIM:618695 |
Crimean-Congo Hemorrhagic Fever |
|
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic... |
ORPHA:99827 |
Chediak-Higashi Syndrome |
|
Silver-gray hair, Periodontitis, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenom... |
OMIM:214500 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Anal stenosis, Gastroesophageal reflux, Rec... |
ORPHA:280633 |
Proximal Spinal Muscular Atrophy |
|
Recurrent aspiration pneumonia, Gastroesophageal reflux, Elbow flexion contracture, Multiple join... |
ORPHA:70 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Abnormality of exocrine pancreas physiology, Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Marshall-Smith Syndrome |
|
Aspiration pneumonia, Cryptorchidism, Decreased body weight, Brittle hair, High palate, Sparse ha... |
OMIM:602535 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Failure to thrive in infancy, Elevated circulating carcinoembryonic antigen... |
ORPHA:264675 |
Hutchinson-Gilford Progeria Syndrome |
|
Insulin resistance, Dystrophic toenail, Ankyloglossia, Alopecia totalis, Delayed menarche, Absenc... |
ORPHA:740 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Type II diabetes mellitus, Renovascular hypertension, Hypercholesterolemia... |
ORPHA:401923 |
Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Facial hypertrichosis, Red-brown urine, Purple urine, Erythroid hyperpla... |
ORPHA:95159 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Umbilical hernia, Fine hair, Hepatosplenomegaly, Inguinal hernia, Knee flex... |
ORPHA:576 |
Diets-Jongmans Syndrome |
|
Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Cryptorchidism, Aggressive be... |
OMIM:618846 |
Fraser Syndrome 1 |
|
Renal hypoplasia, Extension of hair growth on temples to lateral eyebrow, Abnormal small intestin... |
OMIM:219000 |
Mosaic Trisomy 16 |
|
Meckel diverticulum, Anteriorly placed anus, Horseshoe kidney, Abnormality of the gastrointestina... |
ORPHA:1708 |
Mohr-Tranebjaerg Syndrome |
|
Attention deficit hyperactivity disorder, Dysphagia, Aspiration pneumonia |
ORPHA:52368 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Salmonella osteomyelitis, Lymphadenitis |
ORPHA:319552 |
Orofaciodigital Syndrome Ix |
|
Camptodactyly, Recurrent aspiration pneumonia, High palate, Cleft palate |
OMIM:258865 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dentinogenesis imperfecta, Atelectasis, Atrophic scars, Multiple joint contractures, Hydrocephalu... |
ORPHA:536467 |
Ataxia-Telangiectasia |
|
Female hypogonadism, Failure to thrive, Abnormal hair morphology, Lymphopenia, Glucose intoleranc... |
OMIM:208900 |
Craniopharyngioma |
|
Increased circulating prolactin concentration, Hypopituitarism, Hypogonadism, Obesity, Central ad... |
ORPHA:54595 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... |
OMIM:235700 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... |
OMIM:201810 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Pancreatic hypoplasia,... |
ORPHA:2255 |
Garg-Mishra Progeroid Syndrome |
|
Sparse hair, Microvesicular hepatic steatosis |
OMIM:620601 |
Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc... |
ORPHA:263665 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Steatorrhea, Cachexia, Duodenal ulcer |
ORPHA:3217 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane... |
OMIM:224120 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury, Diabetes mellitus, Acute infectious pneumonia |
ORPHA:140896 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula, Hypoproteinemia |
OMIM:221400 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo... |
OMIM:263300 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc... |
ORPHA:3202 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
Alobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Aspiration pneum... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Aspiration pneum... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Aspiration pneum... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Bifid uvula, Gastroesophageal reflux, Central hypothyroidism, Failure to thrive, Aspiration pneum... |
ORPHA:220386 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Subpleural interstitial thic... |
ORPHA:60025 |
Ciliary Dyskinesia, Primary, 43 |
|
Recurrent upper respiratory tract infections, Abdominal situs inversus, Chronic sinusitis, Chroni... |
OMIM:618699 |
Neuhauser Syndrome |
|
Bifid uvula, Low anterior hairline, Primary hypothyroidism, Hypercholesterolemia, High palate, Dy... |
OMIM:249310 |
Tarp Syndrome |
|
Hepatic failure, Meckel diverticulum, Failure to thrive, Horseshoe kidney, Hydronephrosis, High p... |
OMIM:311900 |
Cockayne Syndrome |
|
Dry hair, Absence of pubertal development, Reduced subcutaneous adipose tissue, Cryptorchidism, C... |
ORPHA:191 |
Geleophysic Dysplasia 3 |
|
Hepatomegaly, Pneumonia |
OMIM:617809 |
Tay-Sachs Disease |
|
Precocious puberty, Increased serum beta-hexosaminidase, Ventriculomegaly, Aspiration pneumonia, ... |
ORPHA:845 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Biotinidase Deficiency |
|
Alopecia, Organic aciduria, Hyperammonemia, Splenomegaly, Skin rash, Seborrheic dermatitis, Hepat... |
OMIM:253260 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Hyperlipidemia, Splenomegaly, Increased muscle lipid conten... |
ORPHA:565612 |
Osteopetrosis, Autosomal Recessive 7 |
|
Recurrent pneumonia, Lateral ventricle dilatation, Splenomegaly, Anemia, Hydrocephalus, Hepatomeg... |
OMIM:612301 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Hypergastrinemia, Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126840 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula... |
OMIM:194380 |
Cockayne Syndrome A |
|
Atypical scarring of skin, Dry hair, Ventriculomegaly, Failure to thrive, Hypogonadism, Loss of f... |
OMIM:216400 |
Camurati-Engelmann Disease |
|
Urinary retention, Hypogonadism, Slender build, Leukopenia, Splenomegaly, Abnormal subcutaneous f... |
ORPHA:1328 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g... |
ORPHA:3464 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Cryptorchidism, High palate, Hypospadias, Motor stereotypy, Self-injurious behavior, Gastroesopha... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Cryptorchidism, High palate, Hypospadias, Motor stereotypy, Self-injurious behavior, Gastroesopha... |
ORPHA:353277 |
Chromosome Xq26.3 Duplication Syndrome |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Polyphagia, El... |
OMIM:300942 |
Cholera |
|
Acute kidney injury, Hypoglycemia, Aspiration pneumonia, Hypocalcemia, Hypokalemia, Hyponatremia,... |
ORPHA:173 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Feingold Syndrome Type 1 |
|
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Jejunal atresia, Hydrone... |
ORPHA:391641 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Hypocalcemia, Otitis media, Chronic rhinitis, Pulmonary artery stenosis, Anemia, Hy... |
ORPHA:667 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leu... |
ORPHA:729 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase conc... |
ORPHA:64753 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... |
OMIM:610913 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Renal hypoplasia, Splenomegaly |
OMIM:612918 |
Cockayne Syndrome B |
|
Atypical scarring of skin, Dry hair, Failure to thrive, Abnormal hair morphology, Loss of facial ... |
OMIM:133540 |
Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidi... |
ORPHA:373 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
Wagro Syndrome |
|
Decreased testicular size, Obesity, Proteinuria, Polyphagia, Aggressive behavior, Compulsive beha... |
OMIM:612469 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular ... |
OMIM:203700 |
Megalocornea-Intellectual Disability Syndrome |
|
Motor stereotypy, High palate, Hypothyroidism, Hypercholesterolemia |
ORPHA:2479 |
Fontaine Progeroid Syndrome |
|
Protruding tongue, Reduced subcutaneous adipose tissue, Cryptorchidism, Low posterior hairline, H... |
OMIM:612289 |
Aspartylglucosaminuria |
|
Umbilical hernia, Aspartylglucosaminuria, Inguinal hernia, Splenomegaly, Macroorchidism, Arthriti... |
ORPHA:93 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, B lymphocyto... |
OMIM:601495 |
Zimmermann-Laband Syndrome 1 |
|
Highly arched eyebrow, Gastroesophageal reflux, Long penis, Umbilical hernia, Thick eyebrow, Sple... |
OMIM:135500 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular siz... |
OMIM:202010 |
Iniencephaly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Omphalocele, Anal atresia, Arthrogryposis multipl... |
ORPHA:63259 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Anemia, Delayed puberty, Thrombocytopenia, He... |
ORPHA:77261 |
Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Failure to thrive, Recurrent respiratory infections, Aspiration pneumo... |
ORPHA:2020 |
Townes-Brocks Syndrome 1 |
|
Anal stenosis, Gastroesophageal reflux, Small for gestational age, Multicystic kidney dysplasia, ... |
OMIM:107480 |
Gangliocytoma |
|
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... |
ORPHA:251937 |
Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Cholelithiasis, Hepatic failure, Tongue telangiectasia, Intestinal p... |
ORPHA:774 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... |
OMIM:618372 |
Menke-Hennekam Syndrome 2 |
|
Recurrent upper respiratory tract infections, Duodenal ulcer |
OMIM:618333 |
Johanson-Blizzard Syndrome |
|
Frontal upsweep of hair, Cryptorchidism, Elevated circulating alanine aminotransferase concentrat... |
OMIM:243800 |
Blau Syndrome |
|
Posterior uveitis, Nephropathy, Xerostomia, Keratitis, Camptodactyly of finger, Abnormality of th... |
ORPHA:90340 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,... |
ORPHA:30 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormal testis morphology |
ORPHA:791 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... |
OMIM:610910 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Gastrointestinal carcinoma, Juvenile gastrointestinal polyposis, Hepatic arterioven... |
OMIM:175050 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Recurrent upper respiratory tract infections, Umbilical hernia, Camptodactyly of finger, Heparan ... |
ORPHA:217085 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Recurrent pneumonia, Sparse lateral eyebrow, Aspiration pneumonia |
ORPHA:314655 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue, Impaired oropharyngeal swallow response, Aspiration pneumonia |
ORPHA:53351 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Recurrent upper respiratory tract infections, Umbilical hernia, Camptodactyly of finger, Heparan ... |
ORPHA:217093 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Highly arched eyebrow, Malrotation of small bowel, Gastroesophageal reflux, Ven... |
OMIM:194190 |
Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Elevated ... |
OMIM:260920 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Bilateral cryptorchid... |
OMIM:619471 |
Choreoacanthocytosis |
|
Lateral ventricle dilatation, Acanthocytosis, Protruding tongue, Hair-pulling, Weight loss, Eleva... |
ORPHA:2388 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Unconjugated hyperbilirubinemia, Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz... |
OMIM:300908 |
Kabuki Syndrome 1 |
|
Anoperineal fistula, Lateral ventricle dilatation, Recurrent otitis media, Cryptorchidism, Anal a... |
OMIM:147920 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Ventriculomegaly, Reduced circulating growth hormone concentration, Failure to thrive, Aspiration... |
OMIM:616430 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Horseshoe kidney, Hepatosplenomegaly, Leukocytosis, Vesicoureteral reflux, E... |
OMIM:274000 |
Lissencephaly Due To Lis1 Mutation |
|
Ventriculomegaly, Neonatal hyperbilirubinemia, Aspiration pneumonia |
ORPHA:95232 |
Sporadic Creutzfeldt-Jakob Disease |
|
Recurrent aspiration pneumonia |
ORPHA:204 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
Joubert Syndrome 21 |
|
Splenomegaly, Chronic sinusitis, Renal cyst, Dysphagia, Pulmonary hypoplasia |
OMIM:615636 |
African Trypanosomiasis |
|
Hepatosplenomegaly, Weight loss, Urinary incontinence, Hepatomegaly, Jaundice, Alopecia, Renal in... |
ORPHA:3385 |
Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Cryptorchidism, Proximal renal tubular acidosis, Motor stereotypy,... |
OMIM:309000 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:182900 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis, Abetalipoproteinemia |
OMIM:200100 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Recurrent pneumonia, Recurrent otitis media, Recurrent infection of the gastrointe... |
OMIM:251260 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lateral ventricle dilatation, Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitatio... |
OMIM:607485 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Urinary retention, Aspiration pneumonia, Flexion contracture, Dysphagia, Urinary urgency |
ORPHA:99027 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease, Atypical scarring of skin, Septic arthritis, Fasciitis, Osteomyelitis, Co... |
ORPHA:642 |
Genitopatellar Syndrome |
|
Malrotation of small bowel, Anal stenosis, Multicystic kidney dysplasia, Anteriorly placed anus, ... |
OMIM:606170 |
Mungan Syndrome |
|
Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ... |
OMIM:611376 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Decreased circulating iron concentration, High anterior hairline, Gastroesoph... |
ORPHA:438213 |
Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Increased red blood cell count, Granuloma, Respiratory tract infection, Infectious enc... |
ORPHA:68 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer, Hyperpepsinogenemia I |
OMIM:126850 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Elliptocytosis, ... |
ORPHA:288 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:616649 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Gastroesophageal reflux, Aspiration pneumonia, Horseshoe kidney, Facial hi... |
ORPHA:444077 |
Thalidomide Embryopathy |
|
Insulin resistance, Chronic rhinitis |
ORPHA:3312 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Hypoplasminogenemia |
|
Periodontitis, Abnormality of the ovary, Nephrolithiasis, Decreased level of plasminogen, Hydroce... |
ORPHA:722 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Okamoto Syndrome |
|
Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Facial hypertrichosis, ... |
ORPHA:2729 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bifid uvula, Recurrent pneumonia, Recurrent aspiration pneumonia, Bilateral cryptorchidism, High ... |
OMIM:300472 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Lymphopenia, Interstitial pneumonitis, Thrombocytopenia, Gr... |
ORPHA:454831 |
Mercury Poisoning |
|
Hypokalemia, Acute kidney injury, Interstitial pneumonitis, Anorexia |
ORPHA:330021 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hematochezia, Brain abscess, Polycythemia, Tongue telangiectasia, Gastrointestinal angiodysplasia... |
OMIM:600376 |
Spondyloocular Syndrome |
|
Low posterior hairline, Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight |
OMIM:605822 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hematochezia, Gastrointestinal hemorrhage, Brain abscess, Polycythemia, Tongue telangiectasia, Pu... |
OMIM:187300 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... |
ORPHA:217563 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Abdominal obes... |
OMIM:615812 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Intestinal bleeding, Duodenal polyposis, Low posterior hairline, Hepatoblastoma, Iron deficiency ... |
ORPHA:261584 |
Chand Syndrome |
|
Hydroureter, Atelectasis, Curly hair, Bifid tongue, Cleft palate |
ORPHA:1401 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... |
OMIM:615067 |
Holoprosencephaly 13, X-Linked |
|
Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate, Colpocephaly, Duodenal... |
OMIM:301043 |
Arboleda-Tham Syndrome |
|
Highly arched eyebrow, Gastroesophageal reflux, Recurrent respiratory infections, Sparse medial e... |
OMIM:616268 |
Chromosome 22Q13 Duplication Syndrome |
|
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:615538 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Decreased testicular size, Nail dystrophy, Hypercholesterolemia, Hypertriglyceridemia, Hypospadias |
OMIM:610644 |
Down Syndrome |
|
Duodenal stenosis, Protruding tongue, Acute megakaryocytic leukemia, Aganglionic megacolon, Pulmo... |
OMIM:190685 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Respiratory tract infection, Recurrent gastroenteritis |
ORPHA:79138 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou... |
ORPHA:329971 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Gastroesophageal reflux, Aspiration pneumonia, Ineffective esophageal peristalsis, Small intestin... |
OMIM:619482 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatou... |
ORPHA:220460 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Renal artery stenosis, Hyperlipidemia, Hepatic steatosis... |
ORPHA:391665 |
Familial Adenomatous Polyposis 4 |
|
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatou... |
OMIM:617100 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Anomalous pulmonary venous return |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pneumonia |
ORPHA:99103 |
Lafora Disease |
|
Recurrent aspiration pneumonia, Hepatic failure |
ORPHA:501 |
Yunis-Varon Syndrome |
|
Sparse eyebrow, Absent nipple, Aspiration pneumonia, Failure to thrive in infancy, Cryptorchidism... |
OMIM:216340 |