Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Immunodeficiency With Defective T-Cell Response To Interleukin 1 |
|
Recurrent otitis media, Recurrent pneumonia |
OMIM:243110 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... |
OMIM:606685 |
Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... |
OMIM:615343 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Angioedema, Hereditary, 3 |
|
Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Episodic abdominal pain, Vomiting |
OMIM:610618 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Cardiomyopathy, Dilated, 3B |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased circulating cr... |
OMIM:302045 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
Raynaud Disease |
|
Raynaud phenomenon |
OMIM:179600 |
Platelet Prostacyclin Receptor Defect |
|
Intermittent claudication |
OMIM:262875 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia |
ORPHA:3283 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Recurren... |
OMIM:613953 |
Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Antithrombin Iii Deficiency |
|
Arterial occlusion, Pulmonary embolism |
OMIM:613118 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b... |
OMIM:619611 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Cardiomyopathy, Dilated, 1X |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611615 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension |
OMIM:152900 |
Young Syndrome |
|
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... |
OMIM:279000 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Pneumocystis jirove... |
ORPHA:723 |
Deoxyribose-5-Phosphate Aldolase Deficiency |
|
Abnormal circulating enzyme concentration or activity |
OMIM:125460 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... |
OMIM:616022 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... |
OMIM:613217 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
Hyperaldosteronism, Familial, Type Iv |
|
Hypertension, Hyperaldosteronism |
OMIM:617027 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Blepharitis, Corneal neovascula... |
ORPHA:163934 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Mannose-Binding Lectin Deficiency |
|
Recurrent herpes, Failure to thrive, Recurrent skin infections, Disseminated cryptosporidium infe... |
OMIM:614372 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Angioedem... |
OMIM:106100 |
Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... |
ORPHA:70587 |
Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... |
OMIM:615184 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... |
OMIM:614878 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Ciliary Dyskinesia, Primary, 44 |
|
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... |
OMIM:618781 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep... |
ORPHA:70592 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100082 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... |
OMIM:620296 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Elevated circulat... |
ORPHA:206546 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Decreased DLCO, Dyspnea, Pulmonary arterial hypertension, Cough |
OMIM:234810 |
Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... |
ORPHA:100050 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Increased circulating ferritin concentration, Congestive heart failure, Dilated car... |
OMIM:602390 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... |
ORPHA:853 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy... |
ORPHA:1345 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... |
ORPHA:133 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Conge... |
OMIM:608099 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Sepsis, Hypoxemia, Diabetic ketoacidosis, Respiratory fail... |
ORPHA:70578 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Left Ventricular Noncompaction 2 |
|
Left ventricular noncompaction cardiomyopathy |
OMIM:609470 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Lym... |
OMIM:618495 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... |
OMIM:608957 |
Dpm3-Cdg |
|
Elevated hepatic transaminase, Elevated creatine kinase after exercise, Dilated cardiomyopathy |
ORPHA:263494 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circulating creatine kinase conce... |
OMIM:612937 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism |
OMIM:134400 |
Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension |
OMIM:614475 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:154 |
Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Edema, Abdominal distention, Diarrhea, Dehydration, Weight loss, Hematochezia, Protein-losing ent... |
ORPHA:103910 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Failure... |
OMIM:608971 |
Complement Factor B Deficiency |
|
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... |
OMIM:181350 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604286 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira... |
OMIM:310350 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Dilated cardiomyopathy, Reduced systolic function, Elevated circulating creatine kinase concentra... |
OMIM:616827 |
Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive |
OMIM:615863 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... |
OMIM:606528 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
Tracheobronchomegaly |
|
Recurrent bronchopulmonary infections, Bronchiectasis |
OMIM:275300 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Abnormal circulating enzyme concentration or activity, Myocardial infar... |
ORPHA:132 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Crescentic glomerulonephritis, Ar... |
OMIM:616414 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media |
OMIM:312863 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Tricuspid regurgitation, Anorexia, Poor appetite, Hematemesis, Bowel urgency... |
ORPHA:100075 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... |
OMIM:614980 |
Endocardial Fibroelastosis |
|
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis |
ORPHA:2022 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Edema, Malabsorption, Abdominal pai... |
ORPHA:2070 |
Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur... |
OMIM:611705 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy |
OMIM:610140 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Myocardial infarction |
OMIM:608320 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... |
ORPHA:319552 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno... |
OMIM:613313 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia |
OMIM:618806 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy, Malar rash |
OMIM:618097 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... |
ORPHA:319218 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... |
OMIM:617300 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Bronchiectasis With Or Without Elevated Sweat Chloride 3 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613071 |
Bronchiectasis With Or Without Elevated Sweat Chloride 2 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:613021 |
Bronchiectasis With Or Without Elevated Sweat Chloride 1 |
|
Bronchiectasis, Chronic bronchitis |
OMIM:211400 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me... |
ORPHA:99147 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... |
ORPHA:464321 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitric oxide, Recurrent... |
OMIM:612444 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction, Elevate... |
ORPHA:206559 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Elevated hepatic transaminase, Dilated cardiomyopathy |
OMIM:619688 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:300718 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... |
ORPHA:563 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy |
OMIM:619903 |
Ciliary Dyskinesia, Primary, 41 |
|
Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis, Recurrent sinusitis |
OMIM:618449 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Recurrent bacterial infections, Absent circulating B cells, Neutropen... |
OMIM:613501 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Lymphoid Interstitial Pneumonia |
|
Aortic valve stenosis, Lymphocytic interstitial pneumonia |
OMIM:247610 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Recurrent candida infections, Eczematoid dermatitis,... |
OMIM:269840 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Elevate... |
OMIM:615395 |
Hyperaldosteronism, Familial, Type Ii |
|
Hypertension, Hyperaldosteronism |
OMIM:605635 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Ciliary Dyskinesia, Primary, 39 |
|
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... |
OMIM:618254 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Elevated circulating creatine kinase... |
OMIM:619424 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Pulmonary Hypertension, Primary, 5 |
|
Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Exertional ... |
OMIM:265400 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami... |
OMIM:618805 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High, narrow palate, Re... |
ORPHA:79076 |
Dk1-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Congestive ... |
ORPHA:91131 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Ciliary Dyskinesia, Primary, 3 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:608644 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Decr... |
OMIM:615952 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D... |
ORPHA:263665 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Myopathy, Distal, 1 |
|
Left atrial enlargement, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrati... |
OMIM:160500 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619048 |
Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Familial Isolated Restrictive Cardiomyopathy |
|
Orthopnea, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Suprav... |
ORPHA:75249 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart murmur, Syncop... |
ORPHA:422 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... |
OMIM:255160 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Pulmonary edema, Myocarditis, Leukocytosis, Pedal edema, Cardiorespiratory arrest, ... |
ORPHA:188 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly |
OMIM:609016 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Abnormal lung morphology, Tachypnea, Atelectasis, Whee... |
ORPHA:60032 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:34515 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Cachexia, ... |
ORPHA:60033 |
Immunodeficiency 40 |
|
Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Interstitial... |
OMIM:616433 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis |
OMIM:300645 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
Interstitial Lung Disease 2 |
|
Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea |
OMIM:178500 |
Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
Myopathy, Myofibrillar, 3 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:609200 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... |
ORPHA:264675 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevated circulating crea... |
OMIM:620300 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary e... |
ORPHA:330012 |
Zygomycosis |
|
Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf... |
ORPHA:73263 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasal nitric oxide, Br... |
OMIM:300991 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function |
OMIM:619492 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... |
ORPHA:57777 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Methionine Malabsorption Syndrome |
|
Tachypnea, White hair, Blue irides |
OMIM:250900 |
Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... |
ORPHA:615 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy |
OMIM:300580 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Conjunctivitis, Otit... |
OMIM:601457 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis, Colonic eosin... |
OMIM:617638 |
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Abnormal blood ion concentration, Sepsis, Tubulointerstitial neph... |
ORPHA:37042 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Premature graying ... |
OMIM:616371 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Hypokalemia, Respiratory failure, Inter... |
ORPHA:330021 |
Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve |
OMIM:615981 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the... |
OMIM:243700 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Sepsis |
ORPHA:231154 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
Heparin-Induced Thrombocytopenia |
|
Cerebral ischemia, Myocardial infarction, Pulmonary embolism |
ORPHA:3325 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... |
OMIM:115197 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati... |
OMIM:212138 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement |
OMIM:611556 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... |
ORPHA:330001 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Dilated cardiomyopathy |
ORPHA:79230 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections |
OMIM:308220 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Recurrent bact... |
OMIM:613500 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy |
OMIM:606703 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine, Epistaxis |
ORPHA:46488 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... |
OMIM:619445 |
Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Sandhoff Disease |
|
Splenomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:796 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Immunodeficiency 65, Susceptibility To Viral Infections |
|
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections |
OMIM:618648 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Chronic bronchitis, Dyspnea, Wheezing, Chronic pulmonary obstructi... |
OMIM:613490 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Elevated c... |
OMIM:300842 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis, Neu... |
OMIM:193670 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Neutropenia, Rec... |
OMIM:613502 |
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization |
OMIM:617388 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Recurrent upper respirat... |
OMIM:608184 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence of anti-neu... |
OMIM:607594 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Congestive heart failure, Abnormal heart valve morphology, Heart murmur |
ORPHA:3400 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:300376 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Scedosporiosis |
|
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... |
ORPHA:449280 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension |
OMIM:106700 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med... |
ORPHA:572 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cardiac arrest, Pustule, Myocarditis, Dyspnea, Hepatitis, Erythroderma, Thyroiditis, T... |
ORPHA:139402 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Edema, Rectal polyposis, Adeno... |
ORPHA:329971 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... |
ORPHA:99095 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:618234 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
Acute Lung Injury |
|
Respiratory distress, Shock, Increased circulating interleukin 6 concentration, Acute pancreatiti... |
ORPHA:178320 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617182 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure |
OMIM:301021 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Atransferrinemia |
|
Congestive heart failure, Atransferrinemia |
OMIM:209300 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:609500 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... |
OMIM:614602 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:605115 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... |
OMIM:613779 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Tachypnea, Sepsis, Acute infectious pneumonia, Leukope... |
ORPHA:36238 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
Complement Component 8 Deficiency, Type Ii |
|
Recurrent Neisserial infections, Meningitis |
OMIM:613789 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding |
ORPHA:98870 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... |
OMIM:615481 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Corneal neovascularization, Limbal stem cell deficiency, Chronic rhinitis |
OMIM:615225 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:608068 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:610947 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic car... |
OMIM:611126 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... |
OMIM:611521 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Obesity, Arthritis, Recur... |
OMIM:300310 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... |
ORPHA:367 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu... |
OMIM:617514 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... |
OMIM:618108 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Paraproteinemia, Mildly elevated creatine kinase |
ORPHA:171442 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytope... |
OMIM:226990 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:612649 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... |
OMIM:613876 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Colitis, Ileal ulcer |
OMIM:616744 |
Myopathy, Centronuclear, 5 |
|
Dilated cardiomyopathy, Mitral regurgitation, Abnormal circulating creatine kinase concentration |
OMIM:615959 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Tricuspid regurgitation, Congestive heart failure, Chronic pulmonary obstru... |
ORPHA:2414 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Maculopapular exanthema, Skin... |
ORPHA:398124 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascu... |
OMIM:278730 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia |
OMIM:619126 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... |
OMIM:246700 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive |
OMIM:606824 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Increased circulating ferritin concent... |
OMIM:235200 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren... |
OMIM:613493 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Epistaxis, Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pn... |
OMIM:301000 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Myopathy, Distal, 4 |
|
Cardiomyopathy, Mildly elevated creatine kinase |
OMIM:614065 |
Immunodeficiency 70 |
|
Furuncle, Celiac disease, Colitis, Recurrent sinusitis, Achalasia |
OMIM:618969 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... |
ORPHA:486 |
Hemorrhagic Fever-Renal Syndrome |
|
Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis, Vomiti... |
ORPHA:340 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... |
OMIM:300455 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Rabies |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:770 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Tachypnea, Capillary leak, ... |
ORPHA:542323 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Hepatic failu... |
ORPHA:331 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... |
ORPHA:275 |
Refsum Disease, Classic |
|
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Cardiomyopa... |
OMIM:266500 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Increased circulating gonadotropin level, Hypovolemia, Capillary leak, Periphera... |
ORPHA:64739 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Maternal diabetes, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil... |
ORPHA:464370 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failur... |
ORPHA:49827 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Myocardial infarction |
OMIM:615703 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Dilated cardiomyopathy, Mildly elevated creatine kinase |
OMIM:161800 |
Isolated Agammaglobulinemia |
|
Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated creatine kinase after exercise, Su... |
ORPHA:99901 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Preeclampsia/Eclampsia 1 |
|
Hypertension |
OMIM:189800 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:309930 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Recurrent bacterial infections, Conjunctivitis, ... |
OMIM:612692 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Recurrent herpes, Decreased proportion of naive T cells, Ski... |
ORPHA:276 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Neutropenia, Lympho... |
OMIM:300988 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Abnormal heart m... |
ORPHA:70472 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Cholecystitis,... |
ORPHA:99827 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... |
OMIM:310200 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... |
OMIM:158310 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Arrhythmia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:615084 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... |
ORPHA:331235 |
Analbuminemia |
|
Hypotension, Hypoalbuminemia, Elevated circulating transferrin concentration |
OMIM:616000 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... |
OMIM:604571 |
Ciliary Dyskinesia, Primary, 32 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:616481 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:252011 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Failure to thrive, Hepatic failure, Paralytic... |
OMIM:276700 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:618120 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arr... |
ORPHA:3386 |
Immunodeficiency 77 |
|
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... |
OMIM:619223 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secreto... |
OMIM:616050 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615500 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypertrophic cardiomy... |
OMIM:231530 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Rift Valley Fever |
|
Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Retinal hemorrhage, Uveitis, Macular edema, ... |
ORPHA:319251 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Pneumonia, Productive cough, Nonproductive c... |
ORPHA:454836 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Distal Myopathy, Welander Type |
|
Cardiomyopathy, Mildly elevated creatine kinase |
ORPHA:603 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection... |
OMIM:202700 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:609015 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... |
OMIM:209920 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure |
OMIM:616794 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu... |
ORPHA:183675 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, Bronchiectasis... |
ORPHA:397596 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Erythroderma, Recurren... |
ORPHA:169160 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Cong... |
ORPHA:206569 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension |
OMIM:619751 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
Ciliary Dyskinesia, Primary, 17 |
|
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:614679 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Splenomegaly, Myocarditis, Hypotension, Infectious encephalitis |
ORPHA:83317 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Ciliary Dyskinesia, Primary, 43 |
|
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... |
OMIM:618699 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu... |
OMIM:615482 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly |
ORPHA:163596 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric... |
OMIM:614954 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Conjunctivitis... |
OMIM:240500 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Recurrent mycobacterial infections |
OMIM:616126 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... |
OMIM:300853 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Inflammatory abnormality of the skin, Ventricul... |
ORPHA:26793 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... |
OMIM:121300 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Failure to thrive, Recurrent urinary tract infections, Sinusitis, Autoimmune... |
OMIM:613179 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular tachycardia, Cardiomyopathy, Arrhythmia,... |
ORPHA:159 |
Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Hypotension |
ORPHA:369873 |
Congenital Enterovirus Infection |
|
Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Cardiomyopathy, Hypoalbuminemia, Hypoten... |
ORPHA:292 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Nonprod... |
ORPHA:79126 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... |
ORPHA:275766 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... |
OMIM:619437 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu... |
OMIM:616576 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Abnormal heart rate v... |
ORPHA:70588 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Bronchiectasis, Dec... |
OMIM:617091 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Dilated cardiomyopathy, Mitral regurgitation, Left ventric... |
OMIM:619167 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy |
OMIM:619647 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive, Malabsorption |
ORPHA:79301 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomegaly |
OMIM:269920 |
Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:619446 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:255100 |
Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... |
OMIM:617092 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... |
OMIM:615207 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent bacte... |
OMIM:300400 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri... |
ORPHA:2688 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Cardiomyopathy, Arrhythmia, Hepatomegaly |
ORPHA:35 |
Hsd10 Disease, Neonatal Type |
|
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy |
ORPHA:391457 |
Diarrhea 13 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... |
ORPHA:2032 |
Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy, Mildly elevated creatine kinase |
ORPHA:59135 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Syncope |
OMIM:615821 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Neonatal respiratory distress, Pulmonary arterial hypertension |
OMIM:619003 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse |
OMIM:145350 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hemateme... |
ORPHA:480520 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
Malonyl-Coa Decarboxylase Deficiency |
|
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
OMIM:248360 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Increased circulating antibody level, Pneumonia |
OMIM:247800 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right... |
ORPHA:97287 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... |
ORPHA:767 |
Legionnaires Disease |
|
Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Hypotension, Arrhythm... |
ORPHA:549 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:602541 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... |
ORPHA:79127 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis... |
ORPHA:454831 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
C1Q Deficiency 2 |
|
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Atelectasi... |
OMIM:620321 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Pleural effusion, Gastrointestinal infarctions, Constrictive pericar... |
OMIM:602248 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Splenomegaly, Hepatomegaly, Portal vein thrombosis, Portal hypertension |
OMIM:610293 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre... |
OMIM:605258 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... |
OMIM:617475 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... |
OMIM:613808 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:614651 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Vasculitis, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... |
OMIM:617718 |
Immunodeficiency 62 |
|
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc... |
OMIM:618459 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy |
OMIM:610100 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia |
ORPHA:542306 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic valv... |
ORPHA:1194 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Muscle Filaminopathy |
|
Extremely elevated creatine kinase, Left ventricular diastolic dysfunction, Right bundle branch b... |
ORPHA:171445 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Increased T... |
ORPHA:98813 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chronic diarrhea, ... |
OMIM:619858 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Congestive heart failure, Gastrointestinal dysmotility, D... |
ORPHA:67 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:612336 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Malabsorption |
ORPHA:83620 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Arrhythmia, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:352447 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Autoimmune thrombocyt... |
OMIM:619220 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumoni... |
OMIM:615518 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Hepatic failure |
ORPHA:2724 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Elevated total serum tryptase, Hypotension, ... |
ORPHA:79455 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Absence Of The Pulmonary Artery |
|
Orthopnea, Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fi... |
ORPHA:980 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Failure to thrive, Hematochezia, Prolonged prothrombin time, Fat malabsorpt... |
OMIM:214950 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility,... |
OMIM:266265 |
Pgm3-Cdg |
|
Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Leukopenia, T lymphocytopenia, Neutro... |
ORPHA:443811 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Orthostatic hypotension, Syncope |
OMIM:143850 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... |
OMIM:614379 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy |
OMIM:619651 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin |
OMIM:212112 |
Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Fasciitis, Sinusitis, Elevated circulating creatine kinase concentration, Myo... |
ORPHA:36234 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... |
OMIM:612650 |
Aa Amyloidosis |
|
Hepatomegaly, Enlarged kidney, Hypotension, Abnormal heart morphology |
ORPHA:85445 |
Nipah Virus Disease |
|
Infectious encephalitis, Hypotension |
ORPHA:99825 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Dilated cardiomyopathy |
OMIM:255310 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Recurrent bac... |
OMIM:601495 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Distal Myotilinopathy |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:98911 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
Immunodeficiency 31A |
|
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... |
OMIM:614892 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Telangiectasi... |
ORPHA:2038 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, B... |
OMIM:615513 |
Ciliary Dyskinesia, Primary, 13 |
|
Bronchiectasis, Immotile cilia, Recurrent sinusitis, Recurrent otitis media, Ciliary dyskinesia, ... |
OMIM:613193 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Diarrhea, Malabsorption |
OMIM:600955 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy |
ORPHA:272 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Babesiosis |
|
Hepatomegaly, Myocardial infarction, Splenomegaly, Congestive heart failure, Jaundice, Hepatic fa... |
ORPHA:108 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Ciliary Dyskinesia, Primary, 19 |
|
Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insuffici... |
OMIM:614935 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension |
ORPHA:401923 |
Mucolipidosis Type Iii |
|
Corneal opacity, Acne |
ORPHA:577 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertension, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Elevated circulating creatine kinase ... |
OMIM:607155 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... |
OMIM:615139 |
Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypotension |
OMIM:615668 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Cardiomyopathy, Elevated circulating creatine kinase concentration... |
OMIM:610717 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Obesity, Feeding difficulties |
OMIM:620270 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia, Minimal change glomerulonephr... |
OMIM:616730 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... |
ORPHA:449395 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... |
OMIM:605373 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Reticular Dysgenesis |
|
Skin rash, Malabsorption, Diarrhea, Weight loss, Chronic otitis media, Failure to thrive |
ORPHA:33355 |
Hellp Syndrome |
|
Hemolytic anemia, Generalized edema, Decreased mean corpuscular hemoglobin concentration, Cerebra... |
ORPHA:244242 |
Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Edema, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vo... |
ORPHA:79319 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia |
ORPHA:157973 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
Aspergillosis |
|
Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chro... |
ORPHA:1163 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Pericardial effusion... |
ORPHA:411703 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Myocard... |
ORPHA:3452 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Hypotension... |
ORPHA:99828 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin... |
ORPHA:308552 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Decreased liver function, Episodic tachypnea |
OMIM:615160 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Bronchiectasis, Recurrent infections, Recurrent otitis media, Mollus... |
OMIM:618982 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Cough, Asthma, Bronchiectasis, Respiratory insufficiency, Decre... |
OMIM:616037 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption |
OMIM:229050 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Telangiectasia of the skin, Mucosal telangiectasiae |
ORPHA:220402 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Heart block, Cardiomyopathy, Abnormal left ventricular function |
ORPHA:98912 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumo... |
ORPHA:2257 |
Immunodeficiency 102 |
|
Severe varicella zoster infection, Sepsis, Leukopenia, Hypothyroidism, Autoimmune thrombocytopeni... |
OMIM:301082 |
Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Fatal liver failure in infancy |
ORPHA:254857 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hypothyroidism,... |
OMIM:606367 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia, T lymphocytopenia, Neutrope... |
OMIM:618986 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Cheilitis, Bronchiectasis, Recu... |
OMIM:615468 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Panbronchiolitis, Diffuse |
|
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough |
OMIM:604809 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension |
OMIM:145600 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Prolonged prothrombin time,... |
OMIM:613812 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Sarcoidosis, Susceptibility To, 2 |
|
Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restrictive ventilatory defect, Pleural effusio... |
OMIM:612387 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Sepsis, Conjuncti... |
OMIM:616740 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocut... |
OMIM:147060 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis |
ORPHA:231 |
Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia |
OMIM:605676 |
Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... |
OMIM:616100 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic co... |
OMIM:301074 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
Relapsing Fever |
|
Elevated hepatic transaminase, Tachycardia, Epistaxis, Elevated circulating C-reactive protein co... |
ORPHA:91547 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasi... |
OMIM:616005 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Elevated circulating alkaline phosphatase concentration, Elevated circulating cre... |
ORPHA:52430 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... |
OMIM:614069 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:608807 |
Immunodeficiency 19 |
|
Recurrent otitis media, Failure to thrive, Chronic diarrhea |
OMIM:615617 |
Lessel-Kubisch Syndrome |
|
Hypertension, Hypogonadism |
OMIM:618681 |
Tularemia |
|
Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Meningi... |
ORPHA:3392 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... |
OMIM:306900 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Shigellosis |
|
Anorexia, Intestinal perforation, Dehydration, Bloody diarrhea, Paralytic ileus, Uveitis, Hypovol... |
ORPHA:810 |
Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
ORPHA:254913 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Global systolic dysfunction |
OMIM:606842 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ... |
ORPHA:185 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Polyhydramnios, Abdominal pain, Feeding difficulties, High palate, Vom... |
OMIM:616809 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Edema, Skin rash, Vasculitis, Weight... |
ORPHA:324964 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... |
ORPHA:436159 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Pseudohypoaldosteronism, Type Iia |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:145260 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy |
OMIM:614053 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary arterial hype... |
ORPHA:228116 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Polyhydramnios, Acute lymphoblastic leukemia, Recurrent bacterial infections, B lym... |
OMIM:616873 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum... |
OMIM:613807 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Pulmonary arterial hypertension,... |
OMIM:212350 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Skin rash, Pericardial effusion, Dyspnea, Angioedema, Meningitis, Splenomegaly, Uve... |
ORPHA:36412 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Failure to thrive, Aspiration pneumonia |
OMIM:609528 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Decreased proportion of CD4-positive T cells, Bronchiectasis, Recurrent infections, Decreased bod... |
ORPHA:477814 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ... |
OMIM:203800 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi... |
ORPHA:183 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis |
OMIM:608106 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Necrotizing Enterocolitis |
|
Shock, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension |
ORPHA:391673 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sple... |
ORPHA:169090 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Recurrent bacterial infections, T lymphocytopenia, ... |
ORPHA:169079 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Pulmonary edema, Apnea, Polyhydramnios, Edema, Hepatosplen... |
ORPHA:79330 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... |
OMIM:242700 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615444 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Vasculitis, Re... |
OMIM:610984 |
Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial... |
ORPHA:90068 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Elevated circulating C-reac... |
ORPHA:829 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, A... |
ORPHA:3099 |
Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Increased circulating renin level, Hypotension |
OMIM:620125 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Shortened QT interval, Diarr... |
ORPHA:652 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, Recurrent fungal infections, Recurren... |
OMIM:614172 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... |
ORPHA:2326 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
Corticosterone Methyloxidase Type I Deficiency |
|
Increased circulating renin level, Hypotension |
OMIM:203400 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Cardiomyopathy, Arrhythmia, Elevated circulating creatine kinase concentration |
OMIM:612999 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Classic Multiminicore Myopathy |
|
Congestive heart failure, Mitral valve prolapse, Right ventricular hypertrophy, Right ventricular... |
ORPHA:324604 |
Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... |
ORPHA:99104 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:609308 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Fai... |
OMIM:615816 |
Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling... |
ORPHA:98878 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Portal hypertension, Hepatosplenomegaly, El... |
ORPHA:98850 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Dyspnea, Interstitial pneumonitis, Budd-Chiari syndrome, Pulmonary fibrosis |
OMIM:127550 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... |
OMIM:150550 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:614299 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia, Eosinophili... |
ORPHA:331206 |
Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... |
ORPHA:3287 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Arthritis, Pericarditis, Malar rash |
OMIM:609939 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, A... |
OMIM:306400 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
Immunodeficiency 91 And Hyperinflammation |
|
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Edema, BCGosis, ... |
OMIM:619644 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Increased circulating renin level, Hypotension |
ORPHA:556037 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... |
OMIM:618999 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Portal hypertension, Cardiomegaly, Increased circulating ferritin concentration, Co... |
ORPHA:465508 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia |
OMIM:610738 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubulointerstitial nephritis... |
ORPHA:289390 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Optic atrophy |
OMIM:611721 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:615352 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Abnormal... |
ORPHA:90308 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... |
OMIM:168000 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creati... |
OMIM:232400 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Eczema, Tachypnea, Keratoconjunctivitis, Perioral eczema |
ORPHA:79242 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat... |
ORPHA:71212 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Increased circulating ferritin concentration, Congestive heart fai... |
ORPHA:139507 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Malabsorption, Abdominal pain, Pustule, Skin... |
ORPHA:793 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Elevated circulating creatine kinase concentration, Sudden cardiac dea... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Elevated circulating creatine kinase concentration, Sudden cardiac dea... |
ORPHA:98853 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Graft Versus Host Disease |
|
Tachycardia, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Abdominal pain, Inflammator... |
ORPHA:39812 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Apnea, Episodic tachypnea, Pigmentary reti... |
ORPHA:79264 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Decreased circulating cortisol level, Hypotension |
OMIM:611489 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive |
OMIM:612075 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Elevated circulating creatine kinase concentration, Sudden cardiac dea... |
ORPHA:98855 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... |
OMIM:275000 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Erythroderma, Elevated total serum tryptase, Hypotension |
ORPHA:79456 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Congestive heart failure |
ORPHA:500533 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... |
ORPHA:2137 |
Meningococcal Meningitis |
|
Shock, Skin rash, Elevated circulating C-reactive protein concentration, Hypotension, Infectious ... |
ORPHA:33475 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Agammaglobulinemia, Decr... |
OMIM:619705 |
Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure, Hepatic failure |
ORPHA:261519 |
Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Increased circulating renin level, Hypotension |
ORPHA:556030 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... |
ORPHA:2968 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Tricuspid regurgitation, Pulmonic stenosis, Restrictive cardiomyopathy, Pulmonary i... |
OMIM:619433 |
Liddle Syndrome 2 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:618126 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
Biotinidase Deficiency |
|
Alopecia, Apnea, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Tachypnea, Conjunct... |
OMIM:253260 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting |
ORPHA:543 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Volvulus |
ORPHA:1059 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... |
OMIM:102700 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... |
OMIM:618282 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypertension, Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage |
OMIM:300845 |
Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia |
ORPHA:31824 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... |
ORPHA:464343 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... |
ORPHA:51636 |
Lujo Hemorrhagic Fever |
|
Shock, Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-... |
ORPHA:319213 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Re... |
OMIM:620197 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Hyphema, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anteri... |
OMIM:221900 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Congestive heart failu... |
ORPHA:31826 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Melioidosis |
|
Brain abscess, Unusual skin infection, Lung abscess, Foot osteomyelitis, Pneumonia, Respiratory t... |
ORPHA:31202 |
Erythrokeratodermia Variabilis |
|
Skin rash, Cataract, Corneal opacity |
ORPHA:317 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix |
ORPHA:75234 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... |
ORPHA:424019 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Neutropenia, Reduced na... |
OMIM:615214 |
Congenital Myopathy 24 |
|
Cardiomyopathy, Abnormal circulating creatine kinase concentration, First degree atrioventricular... |
OMIM:617336 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Furrowed tongu... |
ORPHA:2930 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Elevated circulating creatine kinase conc... |
OMIM:300280 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Arthritis |
OMIM:208250 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Hypotension, Prolonged neonatal jaundice |
ORPHA:199296 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Japanese Encephalitis |
|
Respiratory distress, Pulmonary edema, Neutrophilia, Meningitis, Respiratory paralysis, Inappropr... |
ORPHA:79139 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... |
OMIM:301500 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,... |
ORPHA:100078 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Gastrointestinal inflammation |
ORPHA:79406 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... |
OMIM:618063 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Decreased pyruvate carboxylase activity, Congestive he... |
OMIM:229300 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Eczema, Minimal change glomerulonephritis |
OMIM:618348 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Amyloidosis, Finnish Type |
|
Cardiomyopathy, Cardiac amyloidosis |
OMIM:105120 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Rhinitis, Corneal opacity |
ORPHA:93476 |
Ciliary Dyskinesia, Primary, 16 |
|
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... |
OMIM:614017 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis |
OMIM:301220 |
Preeclampsia |
|
Type I diabetes mellitus, Hypertension, Elevated systolic blood pressure, Elevated diastolic bloo... |
ORPHA:275555 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Optic atrophy, Rod-cone dystrophy, Retinal degeneration |
OMIM:602271 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... |
ORPHA:99094 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Recurrent bacterial infections, Glomerulonephritis, Autoimmune ... |
OMIM:613496 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... |
ORPHA:565612 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Increased circulating renin level, Hypotension |
OMIM:177735 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Neurotrophic Keratopathy |
|
Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion... |
ORPHA:137596 |
Felty Syndrome |
|
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Recurrent p... |
ORPHA:47612 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Bilateral Acute Depigmentation Of The Iris |
|
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... |
ORPHA:69736 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Cardiomyopathy, Mildly elevated creatine kinase |
ORPHA:399086 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Chylous Ascites |
|
Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema |
ORPHA:1160 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Eczema, Portal hypertension, Elevated cir... |
OMIM:615688 |
Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Recurrent viral infect... |
OMIM:618048 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, Leukocytosis, S... |
OMIM:612840 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em... |
ORPHA:70591 |
Immunodeficiency 43 |
|
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... |
OMIM:241600 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... |
ORPHA:36382 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
Hydroxykynureninuria |
|
Stomatitis, Tachycardia, Hypotension |
ORPHA:79155 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Perior... |
OMIM:142680 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Congestive hea... |
OMIM:619355 |
Albinism-Deafness Syndrome |
|
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism |
OMIM:300700 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Splenomegaly, Hepatosplenomegal... |
OMIM:612526 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
Pyoderma Gangrenosum |
|
Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Myositis |
ORPHA:48104 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Thrombo... |
OMIM:603585 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Gastrointestinal inflammation |
ORPHA:79411 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar... |
OMIM:601005 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia |
ORPHA:90037 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Dia... |
ORPHA:90038 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Omenn Syndrome |
|
Failure to thrive, Pneumonia, Edema, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsi... |
ORPHA:39041 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Petechiae |
OMIM:620133 |
Glutaric Aciduria Iii |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:231690 |
Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis, Corneal opacity |
OMIM:607016 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Arthritis... |
OMIM:617321 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Left ven... |
ORPHA:746 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension |
OMIM:264350 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear... |
ORPHA:99050 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Fish-Eye Disease |
|
Angina pectoris, Corneal opacity |
ORPHA:79292 |
Jervell And Lange-Nielsen Syndrome |
|
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation |
ORPHA:90647 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
Yellow Nail Syndrome |
|
Recurrent respiratory infections, Sinusitis, Abnormal fingernail morphology, Yellow nails, Dyspne... |
ORPHA:662 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... |
OMIM:300952 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... |
OMIM:610489 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Pulmonary edema |
OMIM:105210 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture |
OMIM:608540 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... |
ORPHA:263297 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Osteoarthritis, Cardiomyopathy, Arrhy... |
OMIM:606069 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Neutropenia, Hepatitis, Seps... |
OMIM:308230 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Decreased liver function |
ORPHA:67048 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... |
ORPHA:228119 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive |
OMIM:230350 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:86893 |
Infant Botulism |
|
Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Chronic otitis media |
ORPHA:178478 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Recurrent sinusitis, Absent circulating ... |
OMIM:619707 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Abnormal macular morphology... |
OMIM:607616 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Recurrent respiratory infections, Myositis, Skin rash, Pustule, Ta... |
OMIM:615934 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Elevated hemoglobin A1c, Elevated circulating aspart... |
OMIM:617253 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608836 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Otitis m... |
ORPHA:906 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Failure to thrive, Constipation, Dysphagia |
ORPHA:309162 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension |
OMIM:619059 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, ... |
ORPHA:79083 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Tachypnea |
OMIM:620085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension |
OMIM:619064 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia |
OMIM:606843 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... |
ORPHA:231625 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Pancreatitis |
ORPHA:2348 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... |
OMIM:171400 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Abnormal natur... |
ORPHA:79124 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties, Hematochezia, Ana... |
OMIM:618183 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension |
OMIM:300887 |
Myopathy, Myofibrillar, 4 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:609452 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Edema, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, C... |
ORPHA:309031 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... |
ORPHA:99745 |
Liddle Syndrome 1 |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:177200 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... |
OMIM:606763 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... |
OMIM:612541 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremia, BCGosis, Le... |
OMIM:619652 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Proteus-Like Syndrome |
|
Retinal detachment, Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polyc... |
ORPHA:2969 |
Propionic Acidemia |
|
Apnea, Eczema, Tachypnea, Propionyl-CoA carboxylase deficiency, Pancreatitis |
OMIM:606054 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Cardiomyopathy, Myofiber disarray |
OMIM:301075 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis, Abdominal pain |
OMIM:620137 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Muscular ventricular septal defect, Dilated cardiomyopathy, Elevated hepat... |
ORPHA:66634 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Myositis, Telangiectasia of the skin, Elevated circulating creatine kinase ... |
ORPHA:81 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Pustule, Co... |
ORPHA:247353 |
Isolated Anencephaly |
|
Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia |
ORPHA:563609 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
OMIM:620010 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Congestive heart failure |
OMIM:616866 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Arthritis, Cardiomyo... |
OMIM:604250 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Abnormal heart valve mo... |
ORPHA:781 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Jaundice, Dilate... |
ORPHA:20 |
Citrullinemia Type I |
|
Hepatic failure, Tachypnea |
ORPHA:247525 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Secretory diarrhea, Vomiting, Failure to thrive |
OMIM:616069 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Lymphedema, Abnormal neutrophil count, Splenomegaly, Leukocytos... |
ORPHA:3226 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
Duchenne Muscular Dystrophy |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:98896 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Asplenia |
OMIM:601086 |
Sepsis In Premature Infants |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Tachycardia, Elevated circulatin... |
ORPHA:90051 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Immunodeficiency 109 With Lymphoproliferation |
|
Recurrent lower respiratory tract infections, Bronchiectasis, Recurrent sinusitis, Persistent EBV... |
OMIM:620282 |
Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
Immunodeficiency 15B |
|
Failure to thrive, Chronic diarrhea, Chronic oral candidiasis |
OMIM:615592 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Pediatric-Onset Graves Disease |
|
Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Atrial fibrillation, Keratitis, Conges... |
ORPHA:525731 |
Polycystic Kidney Disease 5 |
|
Hypertension |
OMIM:617610 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Increased C-peptide level |
ORPHA:528 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Congestive heart failure, Tachycardia, Jaundice |
ORPHA:90033 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati... |
ORPHA:228305 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Vascu... |
ORPHA:343 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Seborrheic dermatitis, Recurrent bacterial infections, Absent circulating B ce... |
OMIM:619693 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis... |
ORPHA:913 |
Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Retinal hem... |
ORPHA:509 |
Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... |
ORPHA:3342 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Diarrhea, Hepatic failure, Steatorrhea |
OMIM:235555 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otitis media, C... |
OMIM:244400 |
Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Scorpion Envenomation |
|
Bundle branch block, Acute pancreatitis, Tachycardia, Edema, Cardiac conduction abnormality, Myoc... |
ORPHA:466677 |
Ogden Syndrome |
|
Apnea, Maternal diabetes, Lymphedema, Ventricular tachycardia, Iron deficiency anemia, Supraventr... |
OMIM:300855 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Tricuspid regurgitation |
OMIM:619051 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Recurrent otitis media, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:614702 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Failure to thrive, Diarrhea, Hepatocellular carcinoma |
OMIM:601847 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Severe varicella zoster infection,... |
OMIM:615387 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Auto... |
ORPHA:1572 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Atelectasis, Dyspnea, C... |
ORPHA:2357 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level |
OMIM:613677 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity, Pneumonia, Heart murmur |
ORPHA:1867 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ... |
ORPHA:2331 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Hutchinson-Gilford Progeria Syndrome |
|
Congestive heart failure, Angina pectoris, Myocardial infarction |
OMIM:176670 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Failure to thrive, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption... |
OMIM:607765 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Decreased methionine synthase activity, Tachypnea, Pulmonary arterial hypertension |
OMIM:614857 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure |
ORPHA:3077 |
Lymphoid Interstitial Pneumonia |
|
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Res... |
ORPHA:79128 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu... |
OMIM:224700 |
Cln3 Disease |
|
T-wave inversion, Bradycardia |
ORPHA:228346 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Increased circulating renin level, Hypovolemia, Hypotension |
ORPHA:427 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurrent upper ... |
OMIM:602450 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Skin rash |
ORPHA:290 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Congestive heart failure, Cardiac myxoma, Pitu... |
OMIM:160980 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Nephronophthisis-Like Nephropathy 2 |
|
Recurrent respiratory infections, Bronchiectasis, Cough |
OMIM:619468 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormal circulating enzyme concentration or ac... |
ORPHA:2590 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... |
OMIM:619802 |
Cog7-Cdg |
|
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties |
ORPHA:79333 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Recurrent pneumonia, Recurrent otitis ... |
ORPHA:277 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism |
ORPHA:181 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Bradycardia |
OMIM:609286 |
Pseudohypoaldosteronism, Type Iib |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614495 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Failure to thrive, Eosinophilia, Recurrent viral infections, Autoimmune thromboc... |
ORPHA:169154 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Thrombocy... |
OMIM:617053 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago... |
ORPHA:983 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... |
OMIM:619151 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Respiratory tract infection, Nonproductive cough, Dyspnea, Tachypnea, Pleural thicken... |
ORPHA:60025 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive |
ORPHA:172 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Cardiomyopath... |
ORPHA:2394 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Skin rash |
OMIM:618321 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,... |
ORPHA:29207 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Keratitis, Bronchiectasis, Recurrent otitis media |
OMIM:618523 |
Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia, Decreased liver function, Abnormal heart morphology |
ORPHA:79327 |
Gaucher Disease, Type I |
|
Epistaxis, Dyspnea, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, Aortic v... |
OMIM:230800 |
Dominant Beta-Thalassemia |
|
Splenomegaly, High-output congestive heart failure, Dilated cardiomyopathy, Jaundice, Hepatosplen... |
ORPHA:231226 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... |
OMIM:619381 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Harel-Yoon Syndrome |
|
Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract |
OMIM:617183 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Ecchymosis, ... |
ORPHA:540 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Failure to thrive, Diarrhea, Protein-losing enteropathy, Vomiting, Steatorrhea, ... |
OMIM:602579 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral... |
ORPHA:2848 |
Alpha-Mannosidosis |
|
Chronic otitis media, Arthritis, Cataract, Corneal opacity |
ORPHA:61 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Edema, Pneumonia, Pericardial effusion, Hematemesis, D... |
OMIM:615846 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... |
ORPHA:73224 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, H... |
OMIM:618886 |
Serotonin Syndrome |
|
Hypertension, Tachycardia, Hepatic failure, Hypotension |
ORPHA:43116 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Myocardial infarction |
ORPHA:54370 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke |
OMIM:615750 |
Braddock Syndrome |
|
Pulmonary arterial hypertension, Neonatal respiratory distress |
ORPHA:52047 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Pulmonary arterial hypertension |
ORPHA:391372 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Respiratory... |
ORPHA:348 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Sepsis, Abnormal left ventricular function, Leukopenia, Lymphocytosis, Cough, ... |
OMIM:619991 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Elevated circulating aspartate amino... |
OMIM:619573 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Sudden cardiac death, Reduced left ventricular ejection fraction, Gast... |
OMIM:201475 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:608779 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... |
ORPHA:90795 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Micr... |
OMIM:175780 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Decreased iduronate sulfatase level, Abnormal heart valve morphology, Congestive he... |
OMIM:309900 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Highly arched eyebrow, Pigmentary retinopathy, Neonatal breath... |
OMIM:608629 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myocardial fibrosis, ... |
OMIM:253800 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc... |
OMIM:300636 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... |
OMIM:219080 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa... |
ORPHA:31825 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Chronic cough, Coug... |
OMIM:620233 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Hypoalbuminemia, Internal hemorrhage... |
ORPHA:99826 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Cardiomyopathy, Jaundice, Acute hepatic failure |
OMIM:616483 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Transient ischemic attack, C... |
ORPHA:3260 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Recurrent pneumonia, Increased circulating ... |
OMIM:617303 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Recurrent skin infections, Asthma, Recurrent pneumonia, Recurrent upper respiratory tract infecti... |
OMIM:619752 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Cone/cone-rod dystrophy, Splenomegaly, Pancytopenia |
OMIM:614979 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Sparse hair, Abnormal hair whorl, Episodic tachypnea |
ORPHA:2872 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Abn... |
ORPHA:47 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Knee osteoarthritis, Oligoarthritis, Uveitis, Rheumatoid arthritis, A... |
ORPHA:85410 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Dyspne... |
ORPHA:1302 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... |
ORPHA:347 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... |
ORPHA:31205 |
Ectopic Aldosterone-Producing Tumor |
|
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Adrenocortical ad... |
ORPHA:231632 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... |
OMIM:615830 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Elevated circulating creatine kinase concentration, P... |
ORPHA:94093 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Decreased nasal nitric oxide, Bronchiectasis, Productive cough, Recurrent infections |
OMIM:615434 |
Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension |
ORPHA:361 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Immunodeficiency 22 |
|
Pericarditis, Capillary leak, Decreased circulating total IgM, Panniculitis, Decreased circulatin... |
OMIM:615758 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Chronic diarrhea, Esophageal varix, Inflammation of the large intestine, Peau ... |
OMIM:614576 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Elevated circulating... |
ORPHA:90060 |
Vipoma |
|
Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Dehydration, Epi... |
ORPHA:97282 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
16Q24.3 Microdeletion Syndrome |
|
Chronic otitis media, Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II d... |
OMIM:604367 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t... |
ORPHA:811 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension, Corneal opacity |
OMIM:166300 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Umbilical hernia, Ascites, Abno... |
ORPHA:87876 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Rec... |
ORPHA:420741 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Congestive heart failure, Splenomegaly, Hepatosplenomegaly, Abnormal h... |
ORPHA:354 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity, Blepharitis |
OMIM:602400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Tachypnea |
OMIM:616501 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension, Respiratory ... |
OMIM:617021 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... |
OMIM:116920 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:71 |
Joubert Syndrome 33 |
|
Cone/cone-rod dystrophy, Splenomegaly |
OMIM:617767 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive |
OMIM:619868 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Nonproductive cough, Lymphadenitis, Sepsis, Conjunctivitis, ... |
ORPHA:31204 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia |
OMIM:126320 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy |
ORPHA:70595 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Pneumonia, Edema, Nausea, Intestinal perforation, Abdominal pain, Diarrhea, ... |
ORPHA:544482 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... |
OMIM:615710 |
Bloom Syndrome |
|
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... |
ORPHA:125 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Hypoproteinemia |
OMIM:260450 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Heart murmur, Palpitations, Hypo... |
ORPHA:100079 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Elevat... |
ORPHA:93672 |
Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Recurrent sinusitis |
ORPHA:85202 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Erythrod... |
OMIM:619510 |
Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Splenomegaly, Recurrent pneumonia, Neutropenia, Hepatosplenomegal... |
OMIM:608233 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Card... |
ORPHA:98908 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Giant cell hepatitis |
ORPHA:79095 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure |
ORPHA:137608 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Lymphedema, Abdominal pain... |
ORPHA:1414 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... |
ORPHA:158029 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:75564 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Conjunctivitis, Neutropenia, Meningitis, Infectious encephalitis, Ente... |
OMIM:300755 |
Beta-Thalassemia Major |
|
Hepatomegaly, High-output congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Jaundic... |
ORPHA:231214 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, F... |
OMIM:242860 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea |
OMIM:176000 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Hypotension, Elevated total serum tryptase |
ORPHA:98849 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Chilblains, Portal... |
OMIM:619487 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Palpebral edema, Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Chédiak-Higashi Syndrome |
|
Edema, Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, A... |
ORPHA:167 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Anomalous origin of one pulmonary artery from ascending aorta,... |
ORPHA:3384 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Tachypnea, Pulmonary arterial hypertension |
OMIM:613320 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
Lacrimoauriculodentodigital Syndrome |
|
Increased corneal thickness, Keratoconjunctivitis, Arthritis, Keratoconjunctivitis sicca, Recurre... |
ORPHA:2363 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... |
ORPHA:324 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia, Cerebral edema |
OMIM:608033 |
Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Hypertension |
ORPHA:1192 |
Nephronophthisis 16 |
|
Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, En... |
OMIM:615382 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia, Elevated circulating creatine kinase concentration |
ORPHA:682 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Vici Syndrome |
|
Decreased circulating IgG level, Left ventricular hypertrophy, Elevated circulating creatine kina... |
OMIM:242840 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Edema, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea, Abnor... |
OMIM:226300 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Gastroesophageal reflux, Failure to thrive, G... |
ORPHA:90045 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Decreased DLCO, Pulmonary fibrosis, Hypophosphatemia, Hypophosphatemic rickets, Emp... |
OMIM:618913 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, High-output congestive heart failure, Ventricular tachycardia, Cardiomyocy... |
ORPHA:423 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Generalized seborrheic dermatitis |
OMIM:609536 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level |
OMIM:218030 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Small for gestational age, Failure to thrive in infancy, Oligohydramnios |
ORPHA:261311 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Diarrhea, Obesity, Constipation, Gastroesophageal reflux, Dysphagia, ... |
ORPHA:589821 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Monosomy 13Q34 |
|
Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis |
ORPHA:96168 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Familial Mediterranean Fever |
|
Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic c... |
OMIM:249100 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Uveitis, Posterior retinal neovascula... |
OMIM:193235 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Decreased pyruvat... |
OMIM:601992 |
Warburg-Cinotti Syndrome |
|
Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
Pseudohypoaldosteronism, Type Iie |
|
Hypertension, Pseudohypoaldosteronism |
OMIM:614496 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Skin rash, Gastritis, Myocardi... |
ORPHA:809 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... |
OMIM:616828 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Arrhythmia, Eczema, Hypotension |
ORPHA:428 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Corneal neovascularization, Corneal scarring |
ORPHA:404454 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
Senior-Loken Syndrome |
|
Hypertension |
ORPHA:3156 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated hepatic transaminase, Atrial fibrillation, Elevated circulating creatine kinase concentr... |
ORPHA:254892 |
Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, High-output congestive heart failure, Congestive heart failure, Telangiectasia, Abnorm... |
ORPHA:137667 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Skin rash |
ORPHA:29822 |
Holocarboxylase Synthetase Deficiency |
|
Alopecia, Tachypnea, Skin rash, Hyperventilation |
OMIM:253270 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Acne, Seborrheic dermatitis, Arthritis, Chronic otitis med... |
ORPHA:567 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:605711 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension, Infectious encephalitis, Myelitis |
ORPHA:2912 |
Immunodeficiency 17 |
|
Eczema, Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroent... |
OMIM:615607 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Abnormal heart morphology, Hepato... |
ORPHA:505248 |
Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Dyspnea, Congestive heart failure, Pulmonary arterial hypertension, H... |
ORPHA:220393 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococca... |
OMIM:607676 |
Pseudohypoaldosteronism, Type Iic |
|
Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level |
OMIM:614492 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ... |
ORPHA:927 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:618620 |
Aarskog-Scott Syndrome |
|
Congestive heart failure |
ORPHA:915 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:119 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... |
ORPHA:728 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Pulmona... |
ORPHA:363618 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Pneumonia |
ORPHA:309288 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis, Hepatic fibrosis |
OMIM:616719 |
Beta-Ketothiolase Deficiency |
|
Hypertension, Hypotension, Hepatomegaly |
ORPHA:134 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Plague |
|
Glossitis, Chapped lip, Edema, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumon... |
ORPHA:707 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Fasciitis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... |
OMIM:123700 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension |
ORPHA:447980 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Abnormal circulating enzyme concentration or activity, Neonatal respiratory distre... |
ORPHA:79345 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Abnormal aort... |
ORPHA:579 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Scheie Syndrome |
|
Aortic regurgitation, Rhinitis, Corneal opacity |
ORPHA:93474 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dilated card... |
ORPHA:255210 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy, Ge... |
OMIM:619183 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption, Failure to thrive, Diarrhea |
OMIM:211600 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ... |
ORPHA:1333 |
Melas |
|
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Concentri... |
ORPHA:550 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Bronchiectasis, Renovascu... |
ORPHA:391487 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:600666 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Postural hypotension with compensatory tachycardia, Osteomyelitis, Keratitis, Corneal scarring, R... |
OMIM:256800 |
Adiposis Dolorosa |
|
Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, Constipation |
ORPHA:36397 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Concent... |
OMIM:610505 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy |
OMIM:613989 |
Rh Deficiency Syndrome |
|
Hypoxemia, Increased circulating lactate dehydrogenase concentration, Jaundice, Tachypnea |
ORPHA:71275 |
Intermediate Uveitis |
|
Anterior uveitis, Cataract, Psoriasiform dermatitis, Band keratopathy, Vasculitis, Tubulointersti... |
ORPHA:279914 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... |
ORPHA:204 |
Hennekam-Beemer Syndrome |
|
Arrhythmia, Telangiectasia of the skin, Pneumonia, Hypotension |
ORPHA:2135 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... |
OMIM:186580 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Celiac disease, Abdominal distention, Hepatic failu... |
ORPHA:186 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive system morphology... |
ORPHA:1916 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o... |
OMIM:613489 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the parathyroid gland... |
ORPHA:2552 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency |
OMIM:166210 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Elevated circulating creatine kinase conc... |
ORPHA:90291 |
Cholera |
|
Hypovolemic shock, Tachycardia, Hypotension, Aspiration pneumonia |
ORPHA:173 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Corneal opacity, Sclerocornea |
OMIM:609465 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis |
ORPHA:2221 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Gastrointest... |
ORPHA:91138 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he... |
ORPHA:1600 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Congestive heart failure, Peritonit... |
ORPHA:533 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Respiratory tract infection, Minimal change glomerulone... |
ORPHA:567548 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ... |
OMIM:611490 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Neutropenia, Failure to thrive, Pancreatitis, ... |
ORPHA:79312 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... |
ORPHA:280365 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fibrosis, Truncus arteriosus |
OMIM:616589 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Keratitis, Abnormal lung morphology, Recu... |
ORPHA:182 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Syncope, Cerebral ischemia, Transient ischemic attack |
ORPHA:71493 |
Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, E... |
ORPHA:100924 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atopic derma... |
OMIM:601808 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Skin rash |
OMIM:601979 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Gastrointestinal inflammation |
ORPHA:79410 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hyperinsulinemia |
ORPHA:363400 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Autoimmune hemolytic anemia, Thrombocytopenia, Recurrent infections |
OMIM:612783 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... |
ORPHA:77296 |
Refractory Celiac Disease |
|
Villous atrophy, Inflammatory abnormality of the skin, Abdominal pain, Malabsorption, Chronic dia... |
ORPHA:398063 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:187900 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis, Neoplasm of ... |
ORPHA:99867 |
Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Cataract, Corneal opacity |
ORPHA:496790 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Normocytic anemia, Skin rash, Pneumonia, Raynaud phenomenon, Punctat... |
ORPHA:247691 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Lym... |
OMIM:614162 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Failure to ... |
OMIM:617788 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ... |
ORPHA:209959 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Tubulointerstitial nephritis, Gout, Hypotension |
OMIM:174000 |
Partial Androgen Insensitivity Syndrome |
|
Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
Riboflavin Transporter Deficiency |
|
Hypertension, Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Diabetes mellitus |
OMIM:615980 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia... |
OMIM:618253 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Jaundice, Hypovolemia, Hepatosplen... |
ORPHA:275761 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Abdominal pain, Pul... |
ORPHA:729 |
Cirrhosis, Familial |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:215600 |
Glycogen Storage Disease Iv |
|
Cardiomyopathy, Hepatic failure, Portal hypertension, Hepatosplenomegaly |
OMIM:232500 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver function, F... |
OMIM:608104 |
Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Neonatal respiratory distress, Psoriasiform dermatitis, Palpebral edema, Recurrent urinary tract ... |
ORPHA:221139 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... |
ORPHA:1830 |
Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Increased circulating renin level, Palpitations, ... |
OMIM:263800 |
Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hepatitis, Hashimoto thyroiditis, Hypotension |
ORPHA:199299 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal... |
OMIM:192315 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea |
OMIM:615838 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal bleeding, Failure to thrive, Epistaxis, Thyroiditis, Diarrhea, Prolonged bleeding follow... |
ORPHA:79259 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Sca... |
ORPHA:59303 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... |
ORPHA:64743 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Periorbital edema, Congestive he... |
ORPHA:33226 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension |
OMIM:603278 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... |
OMIM:614129 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Recurrent bacterial ... |
OMIM:214500 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Oculopharyngodistal Myopathy 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Elevated cir... |
OMIM:164310 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Eczema, Congestive heart failure, Pannicul... |
ORPHA:508542 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Dyspnea, Hypertension, Cerebral ischemia, Pulmonary arterial hypertension |
OMIM:242900 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation |
OMIM:607015 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Decreased circulating ceruloplasmin concen... |
ORPHA:48818 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Martsolf Syndrome 1 |
|
Cardiomyopathy, Cardiac arrest, Congestive heart failure |
OMIM:212720 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:256040 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Recurrent skin infections, Dilated cardiomyopathy, Hypoalbuminemia |
ORPHA:89842 |
Tetrasomy 5P |
|
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Heart murmur |
ORPHA:3309 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Familial Aortic Dissection |
|
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding |
OMIM:607906 |
Immunodeficiency 54 |
|
Hepatomegaly, Failure to thrive, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopath... |
OMIM:609981 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art... |
OMIM:616482 |
Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Elevated circulating creatine kinase concentration, Decreased liver function |
OMIM:618839 |
Pseudo-Torch Syndrome 2 |
|
Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss |
ORPHA:33276 |
Ciliary Dyskinesia, Primary, 37 |
|
Wheezing, Bronchiectasis, Chronic rhinitis, Rhinorrhea |
OMIM:617577 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Dysphagia |
ORPHA:1332 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:618775 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension |
OMIM:259420 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right atrial enlargement, Pulmonic stenosis,... |
OMIM:616028 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension |
OMIM:608643 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato... |
ORPHA:99931 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Congestive heart failure, Jaundice, Elevated circulating alkaline ... |
OMIM:617156 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Increased serum beta-hex... |
OMIM:252500 |
Brucellosis |
|
Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis... |
ORPHA:1304 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Eryth... |
OMIM:304790 |
Blue Diaper Syndrome |
|
Diarrhea, Increased body weight |
ORPHA:94086 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive |
ORPHA:51188 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Portal hypertension, Spider h... |
ORPHA:171 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Apparent Mineralocorticoid Excess |
|
Hypertension, Decreased circulating aldosterone level, Abnormality of circulating cortisol level,... |
ORPHA:320 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent skin infections, Eczema, Keratitis, Erythroderma, Hypertension, Opacification of the co... |
OMIM:308205 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration |
OMIM:253700 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Os... |
ORPHA:342 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Myocardial infarction, Hypovolemia, Increased circulating renin level, H... |
ORPHA:95409 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy |
OMIM:616541 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation |
OMIM:173900 |
Spastic Paraplegia Type 2 |
|
Recurrent respiratory infections, Pulmonary embolism |
ORPHA:99015 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension |
OMIM:615474 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Apnea, Supernumerary nipple, Tac... |
ORPHA:397715 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurr... |
OMIM:619575 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension |
ORPHA:567544 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... |
ORPHA:85443 |
Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating renin level, Hypotension |
ORPHA:90791 |
Ciliary Dyskinesia, Primary, 20 |
|
Productive cough, Recurrent pneumonia, Bronchiectasis, Aortic valve stenosis, Respiratory insuffi... |
OMIM:615067 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Syndromic Diarrhea |
|
Aortic regurgitation, Villous atrophy, Gastritis, Small for gestational age, Bloody diarrhea, Col... |
ORPHA:84064 |
Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... |
ORPHA:268 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Uveitis, Developmental cataract |
OMIM:617044 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Ventricular septal defect, Eczema, Congest... |
ORPHA:506 |
Bartter Syndrome, Type 3 |
|
Increased circulating renin level, Hypotension |
OMIM:607364 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Galactosemia I |
|
Diarrhea, Failure to thrive, Vomiting, Decreased liver function |
OMIM:230400 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mitral regurgitation, Dilated cardiomyopathy, Mildly elevated creatine kinase, Mitral valve prolapse |
OMIM:607459 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension |
ORPHA:2519 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Cherry red spot of the macula, Failure to thrive |
OMIM:228000 |
Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Respiratory insufficiency, Mitral regurgitation, Aortic valve stenosis, Pulmo... |
OMIM:614185 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Decreased response to growth hor... |
ORPHA:1855 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Pneumocystis jirovecii pneumonia, Splenomegaly, Neutropenia, Recurre... |
OMIM:301078 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Bradycardia |
OMIM:613327 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hepatic failure, ST se... |
ORPHA:466650 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Raynaud phenomenon, Hyp... |
OMIM:607944 |
Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea, Highly arched eyebrow |
ORPHA:2318 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Edema, Anorexia, Abdom... |
ORPHA:761 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Arthritis, Cerebral ischemia, Arrhythm... |
ORPHA:397 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Pituitary Apoplexy |
|
Hypertension, Hypotension |
ORPHA:95613 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss,... |
OMIM:212750 |
Stiff Skin Syndrome |
|
Hypertension, Type II diabetes mellitus |
ORPHA:2833 |
Paroxysmal Hemicrania |
|
Hypertension, Diabetes mellitus |
ORPHA:157835 |
Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Congestive heart failure, Abnorma... |
ORPHA:35687 |
Hepatic Lipase Deficiency |
|
Corneal arcus, Angina pectoris |
OMIM:614025 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Card... |
ORPHA:228308 |
Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
Lethal Acantholytic Erosive Disorder |
|
Impaired myocardial contractility, Hypovolemic shock, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Respiratory insufficiency, Cardiomyopathy, Respiratory failure, Reduced left ven... |
ORPHA:258 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Cardiomyopathy, Abnormal circulating creatine kinase concentration |
ORPHA:521411 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia |
OMIM:620351 |
Overlap Myositis |
|
Raynaud phenomenon, Hypertension, Pulmonary arterial hypertension |
ORPHA:206572 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Small for gestational age, Thrombocytopenia, Mi... |
OMIM:606003 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Skin rash, Arthritis, Conjunctivitis, Uveitis |
OMIM:120100 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphol... |
ORPHA:79282 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly |
OMIM:306000 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Supraventricular tachycardia, Tricuspid regurgitat... |
ORPHA:97214 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Failure to thrive in infancy, Abdominal pain, Diarrhea, Chronic diarrhea, Panniculitis |
OMIM:617099 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
Cystic Fibrosis |
|
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... |
ORPHA:586 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Increased ... |
ORPHA:90790 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Recurrent pneumo... |
ORPHA:1900 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension |
OMIM:616733 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:608149 |
Cogan Syndrome |
|
Aortic regurgitation, Episcleritis, Keratitis, Vasculitis, Large vessel vasculitis, Uveitis, Scle... |
ORPHA:1467 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
Cog4-Cdg |
|
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... |
ORPHA:263501 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Acrodermatitis Enteropathica |
|
Poor appetite, Malabsorption, Anorexia, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... |
ORPHA:37 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity |
ORPHA:812 |
Alexander Disease |
|
Hypotension, Hypertension, Infectious encephalitis, Sudden cardiac death |
ORPHA:58 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphad... |
OMIM:257200 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal lung morphology, Weight loss, Anemia |
ORPHA:54251 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Congestive heart failure, Jaundice, Cholecystitis, Prolonged neonatal jaundice |
OMIM:615512 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Eczema, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate |
OMIM:300215 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis |
OMIM:231050 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Hypotension |
ORPHA:93256 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Polyhydramnios, Edema, Abnormal respiratory system p... |
ORPHA:98905 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Nephronophthisis 18 |
|
Hypertension |
OMIM:615862 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc... |
ORPHA:824 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Morbilliform rash, Cough, Abscess, Abnormality o... |
ORPHA:228123 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma |
OMIM:252605 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Dyspnea, Pulmonary arterial hypertension |
ORPHA:261279 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia |
OMIM:616449 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog... |
ORPHA:85212 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Chronic diarrhea |
OMIM:619484 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Cardiomegaly, Hepato... |
OMIM:268800 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... |
OMIM:612714 |
Nelson Syndrome |
|
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... |
ORPHA:199244 |
Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon, Diarrhea |
OMIM:609313 |
Encephalopathy, Ethylmalonic |
|
Failure to thrive, Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Recurrent intrapulmon... |
ORPHA:900 |
Coach Syndrome 2 |
|
Hypertension |
OMIM:619111 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart failure, Keratoconjun... |
ORPHA:14 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Edema, Malabsorption, Seborrheic ... |
ORPHA:2796 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hypertension |
ORPHA:974 |
Werner Syndrome |
|
Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Pulmonary artery ste... |
ORPHA:902 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis |
OMIM:608654 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Abnormality of body weight, Abnormal circulating leptin concentration, Oste... |
ORPHA:2298 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss |
ORPHA:1842 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... |
ORPHA:424016 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia |
ORPHA:79101 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Polyhydra... |
ORPHA:2241 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Cataract, Corneal opacity, Telangiectasia, Developmental cataract |
ORPHA:93400 |
Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis |
ORPHA:2575 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... |
ORPHA:79325 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Bradycardia |
ORPHA:565624 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia |
OMIM:618398 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure |
ORPHA:2505 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:618061 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Highly arched eyebrow, Abnormal pattern of respiration |
ORPHA:475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Small for gestational age, Tachypnea, Hypertension, Mitral regurgitation, Hypertrophic cardiomyop... |
OMIM:220111 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, ... |
OMIM:212065 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic cysts, Portal hypertension, Malformation of the hepati... |
OMIM:208540 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism |
ORPHA:745 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Infantile Systemic Hyalinosis |
|
Telangiectasia of the skin, Lymphedema, Recurrent bacterial infections, Abnormality of the adrena... |
ORPHA:2176 |
Oculopharyngodistal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... |
ORPHA:98897 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... |
OMIM:308240 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... |
ORPHA:537 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Failure to thrive, Diarrhea, Esophageal varix, Vomiting, Protuberant abdom... |
OMIM:278000 |
Juvenile Xanthogranuloma |
|
Hyphema, Uveitis, Asymmetry of iris pigmentation, Iritis, Blepharitis |
ORPHA:158000 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Tachypnea, Hepatitis, Decreased liver function, Hepatic failure |
ORPHA:415 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... |
OMIM:615508 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Anorexia, Po... |
ORPHA:97280 |
Behcet Syndrome |
|
Raynaud phenomenon, Iridocyclitis, Erythema nodosum, Epididymitis, Arthritis, Iritis, Hypopyon |
OMIM:109650 |
Stiff-Person Syndrome |
|
Hypertension, Tachycardia, Diabetes mellitus |
OMIM:184850 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai... |
ORPHA:209905 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, A... |
OMIM:146255 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Hypertension, Tachypnea, Pulmonary arterial hypertension |
OMIM:613834 |
Cryptococcosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Prost... |
ORPHA:1546 |
Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97261 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Cutis Laxa, Autosomal Dominant 3 |
|
Aortic regurgitation, Corneal opacity, Developmental cataract |
OMIM:616603 |
Wagro Syndrome |
|
Aniridia, Hypertension, Cataract, Corneal opacity |
OMIM:612469 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:560000 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pleural effusio... |
ORPHA:2905 |
Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension |
ORPHA:93932 |
Autoimmune Polyendocrinopathy Type 1 |
|
Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ... |
OMIM:612109 |
Gitelman Syndrome |
|
Prolonged QT interval, Hashimoto thyroiditis, Raynaud phenomenon, Pericardial effusion, Low-to-no... |
ORPHA:358 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Tachycardia |
OMIM:613870 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content |
OMIM:613027 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Esophageal Atresia |
|
Barrett esophagus, Small for gestational age, Intestinal malrotation, Polyhydramnios, Failure to ... |
ORPHA:1199 |
Prolactinoma |
|
Hypotension |
ORPHA:2965 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Abdominal pain, Diarrhea, Nausea |
ORPHA:83313 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Anisocytosis, Anemia ... |
OMIM:224120 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Corneal opacity, Abnormal pupil morphology, Corneal erosion... |
ORPHA:1764 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, S... |
ORPHA:36426 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis |
OMIM:617765 |
Glycogen Storage Disease Ic |
|
Stomatitis, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of the larg... |
OMIM:232240 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Failure to thrive in infan... |
OMIM:612852 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Lipodystrophy, Splenomegaly, Flexion contracture, Lymphadenopath... |
OMIM:617591 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmona... |
ORPHA:1655 |
Congenital Myopathy 20 |
|
Failure to thrive, Chronic diarrhea, High palate |
OMIM:620310 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Failure to thrive, Polyhydramnios, High palate, Hepatic failure, Ascites |
OMIM:606812 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia |
OMIM:300484 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Atrial septal defec... |
OMIM:617403 |
Glycogen Storage Disease Ib |
|
Gout, Hypertension, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carc... |
OMIM:232220 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity |
ORPHA:93399 |
3-Methylglutaconic Aciduria, Type Viib |
|
Congestive heart failure, Recurrent pneumonia |
OMIM:616271 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Type II diabetes mellitus, Myocardial infarction |
OMIM:615812 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... |
OMIM:175200 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Hypoplasia of the uterus, Hypoplasia of the ov... |
OMIM:615300 |
Immunodeficiency, Common Variable, 7 |
|
Chronic diarrhea |
OMIM:614699 |
C3 Glomerulopathy |
|
Hypertension |
ORPHA:329918 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal bleeding, Gastritis, Glomerulonephritis, Vasculitis, Hydrops fetalis, Uveitis, Hepatitis... |
ORPHA:3261 |
Cystinosis |
|
Corneal opacity, Portal hypertension |
ORPHA:213 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Stridor, Pulmonary arterial hypertension, Prolonged QT interval |
OMIM:620029 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Opacification of the corneal stroma |
ORPHA:425 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca... |
ORPHA:90349 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Immunodeficiency 9 |
|
Stomatitis, Failure to thrive, Chronic diarrhea, Recurrent aphthous stomatitis |
OMIM:612782 |
Antiphospholipid Syndrome, Familial |
|
Keratitis, Scleritis, Iritis |
OMIM:107320 |
Zellweger Syndrome |
|
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract |
ORPHA:912 |
Mucopolysaccharidosis, Type Vi |
|
Tricuspid regurgitation, Pneumonia, Cardiomyopathy, Restrictive ventilatory defect, Mitral regurg... |
OMIM:253200 |
Nestor-Guillermo Progeria Syndrome |
|
Dyspnea, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypert... |
OMIM:614008 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Pneumonia, Edema, Esophageal stricture, Dilated cardiomyopathy, Malnut... |
ORPHA:79404 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Hypersplenism, Thrombocytopenia, ... |
ORPHA:77259 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Cardiomyopathy, Dilatation of the ventricular cavity, Elevated circulating creatine kinase concen... |
ORPHA:363623 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Small for gestational age, Diarrhea |
ORPHA:79332 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... |
ORPHA:65681 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Abnormal left ventricular function, Astigmatism, Corneal opacity, Pulmonic stenosis |
OMIM:301056 |
Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis... |
ORPHA:90062 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia, Sparse l... |
ORPHA:314655 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein c... |
ORPHA:50918 |
Wilson Disease |
|
Kayser-Fleischer ring, Acute hepatitis, Hepatitis, Arthritis |
ORPHA:905 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... |
ORPHA:93552 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:608328 |
Incontinentia Pigmenti |
|
Cataract, Corneal opacity, Telangiectasia of the skin, Skin rash, Keratitis, Congestive heart fai... |
ORPHA:464 |
Walker-Warburg Syndrome |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:899 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis |
ORPHA:210122 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Glomus ... |
OMIM:115310 |
Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Diarrhea, Steatorrhe... |
OMIM:219700 |
Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Conjunctivitis, Dysphagia |
ORPHA:99824 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Decreased activity of NADPH oxidase, Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... |
ORPHA:556 |
Monosomy 18P |
|
Hypertension, Hypothyroidism |
ORPHA:1598 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Classic Galactosemia |
|
Diarrhea, Hepatic failure, Vomiting, Feeding difficulties |
ORPHA:79239 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... |
OMIM:602782 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Intestinal malrotation, Portal hypertension, Hepatic failure, Microcolon, Oligohydramnios |
OMIM:619431 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Hepatitis |
ORPHA:584 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Ochoa Syndrome |
|
Hypertension |
ORPHA:2704 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Increased circulating renin level, Hypotension |
ORPHA:168558 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnormal cardiovascular system physiology,... |
ORPHA:79086 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Dilated cardiomyopathy, Mitral valve prolapse, Hypertrophic cardiomyopat... |
ORPHA:2556 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Tachypnea |
OMIM:615751 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Diarrhea |
ORPHA:90035 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Increased circulating renin level, Hypotension |
ORPHA:289548 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Neonatal respiratory distress, Recurrent aspiration pneumonia, Recurre... |
ORPHA:79243 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections, Congenital hypoparathyroidism, Decreased response to growth hormo... |
OMIM:241410 |
Addison Disease |
|
Orthostatic hypotension, Increased circulating renin level, Hashimoto thyroiditis, Hypotension |
ORPHA:85138 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension, Hypothyroidism |
OMIM:617763 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... |
ORPHA:2237 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Arthrit... |
ORPHA:221 |
Microgastria-Limb Reduction Defect Syndrome |
|
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tra... |
ORPHA:2538 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Congenital hypoparathyroidism, Anemia |
OMIM:244460 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, Chronic muc... |
OMIM:240300 |
Nephroblastoma |
|
Hypertension |
ORPHA:654 |
15Q Overgrowth Syndrome |
|
Pulmonary arterial hypertension, Mitral regurgitation, Tricuspid regurgitation |
ORPHA:314585 |
Nephronophthisis 2 |
|
Hypertension, Pulmonary insufficiency |
OMIM:602088 |
Heme Oxygenase 1 Deficiency |
|
Hypertension, Epistaxis, Diffuse alveolar hemorrhage |
OMIM:614034 |
Hypercholesterolemia, Familial, 3 |
|
Corneal arcus |
OMIM:603776 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in... |
ORPHA:100093 |
Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Tachypnea |
ORPHA:3426 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... |
ORPHA:79430 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Chronic diarrhea, Recurrent pneumonia |
OMIM:619824 |
3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension |
ORPHA:65286 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Lipemia retinalis |
OMIM:207750 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Tachypnea, Abnormal pulmonary interstitial mo... |
OMIM:613658 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Failure to thrive, Reduced circulating growth hormone concentration,... |
OMIM:616430 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus |
OMIM:143890 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Hallermann-Streiff Syndrome |
|
Recurrent pneumonia, Telangiectasia, Hypertension, Tracheomalacia, Pulmonary arterial hypertension |
OMIM:234100 |
Familial Pseudohyperkalemia |
|
Hypertension |
ORPHA:90044 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Transient ischemic attack, E... |
ORPHA:365 |
Pituitary Adenoma 4, Acth-Secreting |
|
Hypertension, Pituitary adenoma, Increased circulating ACTH level |
OMIM:219090 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia |
ORPHA:464738 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermi... |
ORPHA:432 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Acute respiratory distress syndrome, Portal hypertension, Wheezing, Respiratory insufficiency, Co... |
OMIM:620005 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Apnea, Respiratory insufficiency |
OMIM:601559 |
Marshall-Smith Syndrome |
|
Apnea, Premature ventricular contraction, Stridor, Hypertension, Aspiration pneumonia, Pulmonary ... |
OMIM:602535 |
Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
Carey-Fineman-Ziter Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:254940 |
Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Obesity |
ORPHA:247768 |
Sheehan Syndrome |
|
Palpitations, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Abnormal circulating ceruloplasmin concentration, Cardiomegaly |
OMIM:620306 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Hurler Syndrome |
|
Aortic regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Opacification of the... |
OMIM:607014 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism |
ORPHA:743 |
Goodpasture Syndrome |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restr... |
OMIM:233450 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Vomiting, Increased body weight, Large for gestational age |
ORPHA:263455 |
Hyperparathyroidism, Neonatal Severe |
|
Dyspnea, Tachypnea |
OMIM:239200 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Reduced int... |
OMIM:608594 |
Neuroblastoma, Susceptibility To, 1 |
|
Weight loss, Diarrhea, Failure to thrive, Abdominal pain |
OMIM:256700 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Respiratory tract infection, Dyspnea, Hyperlipidemia, Minimal change glomerul... |
ORPHA:567546 |
Mucopolysaccharidosis, Type Ivb |
|
Aortic valve stenosis, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma |
OMIM:253010 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Myocardial infarction, Delayed puberty |
OMIM:208060 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ... |
ORPHA:3130 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Hepatomegaly, Keratitis, Myocarditis, Congestive heart failure, Splen... |
ORPHA:3385 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Pericardial effusion, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthritis, I... |
OMIM:181000 |
Cryoglobulinemia, Familial Mixed |
|
Hypertension |
OMIM:123550 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:614441 |
Infantile Neuroaxonal Dystrophy |
|
Increased circulating lactate dehydrogenase concentration, Apneic episodes in infancy, Aspiration... |
ORPHA:35069 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Aspiration pneumonia, Cough |
ORPHA:216866 |
Roifman-Chitayat Syndrome |
|
Arthritis, Pneumonia |
OMIM:613328 |
Farber Disease |
|
Arthritis, Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Proximal Spinal Muscular Atrophy |
|
Bradycardia |
ORPHA:70 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Facial edema, Dyspnea, ... |
ORPHA:293173 |
Hypercholesterolemia, Familial, 2 |
|
Corneal arcus |
OMIM:144010 |
Dpm1-Cdg |
|
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
3Q29 Microduplication Syndrome |
|
Aniridia, Cataract, Iris coloboma, Sclerocornea |
ORPHA:251038 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis |
OMIM:610205 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum, Lymphedema |
OMIM:300291 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Atrial fibrillation, Prolonged QRS complex, Left ventricular systo... |
ORPHA:273 |
Bardet-Biedl Syndrome |
|
Hypertension, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Omphalocele, Small for gestational age, Elevated circulating luteinizing hormon... |
OMIM:618419 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia |
OMIM:261990 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
ORPHA:2388 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Chronic diarrhea, High pal... |
OMIM:233600 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l... |
ORPHA:100085 |
Pagod Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Abnormality of the spleen, Optic atrophy, Agonadism... |
ORPHA:991 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Ga... |
ORPHA:436252 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis |
OMIM:618641 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Bidirectional shunt, Elevated p... |
OMIM:619351 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Laryngotracheomalacia |
OMIM:618454 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Telangiectasia of the skin, Abnormal circulating leptin concentration, Congest... |
ORPHA:79474 |
Scalp-Ear-Nipple Syndrome |
|
Cardiac myxoma, Congestive heart failure, Pyelonephritis, Hypertension, Supraventricular tachycardia |
OMIM:181270 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Esophageal varix, Hepatocellular adenoma, Increased body weight, Vomiting, Failure to t... |
ORPHA:264580 |
Gaucher Disease, Type Ii |
|
Apnea, Thrombocytopenia, Splenomegaly, Stridor, Cough, Bronchiolitis, Failure to thrive, Recurren... |
OMIM:230900 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascites, Anemia |
OMIM:608013 |
Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Severe periodontitis, Palpebr... |
ORPHA:99843 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Telangiectasia, Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular ant... |
OMIM:612582 |
Lymphatic Malformation 13 |
|
Pulmonary arterial hypertension, Mitral regurgitation, Chronic lung disease |
OMIM:620244 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, I... |
ORPHA:90340 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... |
OMIM:618050 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Lipodystrophy, Elevated he... |
OMIM:269700 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Hyper-Igd Syndrome |
|
Skin rash, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diarrhea, Arthritis, Vomiting, Chroni... |
OMIM:260920 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Shwachman-Diamond Syndrome 2 |
|
Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency |
OMIM:617941 |
Tangier Disease |
|
Myocardial infarction, Opacification of the corneal stroma |
OMIM:205400 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Opacification of the corneal stroma |
OMIM:313400 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Cataract, Corneal opacity, Iris hypopigmentation |
ORPHA:2719 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Hypertension |
ORPHA:449291 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Atrioventricular block, Hypertension, Type I diabetes mellitus, Nodular goiter |
ORPHA:371428 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Thrombocytopenia, Pancreatic cysts, Abnormality of the lympha... |
ORPHA:464329 |
Joubert Syndrome 1 |
|
Central apnea, Neonatal breathing dysregulation, Episodic tachypnea, Highly arched eyebrow |
OMIM:213300 |
Chops Syndrome |
|
Curly hair, Chronic lung disease, Thick hair, Synophrys, Anomalous pulmonary venous return, Coars... |
OMIM:616368 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Recurrent infections,... |
OMIM:300972 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Arrhythmia, Apnea, Respiratory insufficiency |
ORPHA:800 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Vomiting |
OMIM:223900 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Multiple Endocrine Neoplasia, Type I |
|
Diarrhea, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis |
OMIM:131100 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... |
OMIM:617137 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Congenital contracture |
OMIM:619036 |
Diamond-Blackfan Anemia 7 |
|
Recurrent otitis media, Esophagitis, Polyhydramnios, Cleft palate |
OMIM:612562 |
Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Pneumonia, Polyhydramnios, Thrombocytopeni... |
OMIM:603467 |
Lead Poisoning |
|
Hypertension, Decreased circulating osteocalcin level, Delayed puberty |
ORPHA:330015 |
Mucopolysaccharidosis Type 6 |
|
Chronic otitis media, Sinusitis, Opacification of the corneal stroma |
ORPHA:583 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Anal fissure, Glomerulonephritis, Dilated cardiomyopathy, Malnutrition... |
ORPHA:79408 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Marfan Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, P... |
OMIM:154700 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Failure to thrive in infancy, Pustule, Chronic diarrhea, Acute otitis media, Recurrent... |
ORPHA:35078 |
Localized Scleroderma |
|
Fasciitis, Raynaud phenomenon, Vasculitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagit... |
ORPHA:90289 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Hepatocellular adenoma, Increased body weight, Vomiting, Hepatocellular carcinoma, Nausea |
ORPHA:79240 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Fat malabsorption, Malnutrition, Diarrhea, Decreased body weight |
ORPHA:96180 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hepatosplenomegaly, Pancreatitis, Lipemia retinalis |
OMIM:238600 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting, Atopic dermatitis |
ORPHA:3240 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Pulmonary arterial hypertension, Recurrent aspiration pneumonia |
ORPHA:280633 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Transcobalamin Ii Deficiency |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:275350 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... |
ORPHA:90348 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Poor appetite |
OMIM:201100 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failure to thrive |
ORPHA:79351 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Feeding difficulties, Esophagitis, Oligohydramnios |
ORPHA:541423 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Congestive heart failure, Abnormal heart morphology, Aspiration pneumo... |
ORPHA:444077 |
Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Dysphagia |
OMIM:252930 |
Immunodeficiency 25 |
|
Recurrent pneumonia, Erythroderma, Protracted diarrhea |
OMIM:610163 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Hurler Syndrome |
|
Corneal opacity, Angina pectoris, Cardiomyopathy, Hypertension, Rhinitis |
ORPHA:93473 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypoxemia, Pulmonary arterial hypertension |
ORPHA:2282 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Failure to thrive, Dysphagia |
OMIM:616457 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
Diamond-Blackfan Anemia 1 |
|
Atrial septal defect, Congestive heart failure, Ventricular septal defect, Tricuspid stenosis |
OMIM:105650 |
Mucolipidosis Iii Alpha/Beta |
|
Aortic regurgitation, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Mucopolysaccharidosis, Type Vii |
|
Recurrent otitis media, Cardiomyopathy, Corneal opacity |
OMIM:253220 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
Citrullinemia Type Ii |
|
Pancreatitis, Diarrhea, Vomiting, Hepatocellular carcinoma, Decreased body mass index |
ORPHA:247585 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... |
ORPHA:2131 |
X-Linked Intellectual Disability, Nascimento Type |
|
Pulmonary arterial hypertension, Mitral stenosis |
ORPHA:163956 |
Mevalonic Aciduria |
|
Skin rash, Failure to thrive in infancy, Diarrhea, Vomiting, Morbilliform rash, Failure to thrive |
OMIM:610377 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Oligohydramnios |
OMIM:263200 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Abnormality o... |
ORPHA:68 |
Lysinuric Protein Intolerance |
|
Glomerulonephritis, Decreased response to growth hormone stimulation test, Thrombocytopenia, Intr... |
ORPHA:470 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Macular atrophy, Microvesicular hep... |
OMIM:619418 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
Caudal Regression Syndrome |
|
Hypertension, Maternal diabetes |
ORPHA:3027 |
Moebius Syndrome |
|
Corneal opacity, Blepharitis |
ORPHA:570 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension |
ORPHA:2169 |
Coach Syndrome 1 |
|
Hypertension, Portal hypertension |
OMIM:216360 |
Isolated Biliary Atresia |
|
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... |
ORPHA:30391 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea, Highly arched eyebrow |
ORPHA:2754 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture |
OMIM:225400 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Overweight, Chronic diarrhea, Chronic constipation, Gastroesopha... |
ORPHA:500055 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Weight los... |
ORPHA:1018 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Failure to thrive, Small for gestational age, Anorexia, Malabsorption, Chronic d... |
OMIM:557000 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension, Hyperaldosteronism, Increased circulating renin level |
OMIM:612780 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Poor appetite, Feeding difficulties in infancy, High, narrow palate, C... |
ORPHA:96182 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Feeding difficulties in infancy, Chronic diarrhea, Hepatitis, Gastr... |
OMIM:613385 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr... |
OMIM:243800 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Acne, Hypovolemia, Hypotension |
ORPHA:90794 |
1P36 Deletion Syndrome |
|
Abnormal heart valve morphology, Dilated cardiomyopathy, Telangiectasia, Abnormal cardiac septum ... |
ORPHA:1606 |
Mucopolysaccharidosis, Type Iiia |
|
Diarrhea |
OMIM:252900 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu... |
OMIM:608710 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension |
OMIM:612924 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Hypoplas... |
OMIM:601186 |
Alpha-Mannosidosis, Infantile Form |
|
Aortic regurgitation, Cataract, Corneal opacity, Pneumonia, Mitral regurgitation, Astigmatism, Ot... |
ORPHA:309282 |
Mannosidosis, Alpha B, Lysosomal |
|
Splenomegaly, Recurrent bacterial infections, Vacuolated lymphocytes |
OMIM:248500 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Elevated hepatic transaminase, Osteomyelitis, Ventricular septal defect, Bi... |
OMIM:619475 |
Porphyria Variegata |
|
Inappropriate antidiuretic hormone secretion, Hypertension, Tachycardia |
ORPHA:79473 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension |
OMIM:614424 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Lymphedema, Celiac di... |
ORPHA:881 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:167100 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus |
OMIM:151660 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension |
OMIM:612926 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Bifid uterus |
ORPHA:2736 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypertension, Diabetes mellitus |
ORPHA:69663 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Iris coloboma |
ORPHA:2092 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyo... |
OMIM:607872 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Atrioventricular block, Reduced left ventricular ejection fraction, Op... |
ORPHA:581 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Chilblains, Cardiomegaly, Raynaud phenomenon, Hepatosple... |
ORPHA:51 |
Livedoid Vasculopathy |
|
Diabetes mellitus, Telangiectasia of the skin, Hypertension, Ischemic stroke, Graves disease |
ORPHA:542643 |
Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
Hallermann-Streiff Syndrome |
|
Congestive heart failure, Uveitis |
ORPHA:2108 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Arrhythmia, Microcolon |
ORPHA:163746 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Lip telangiectasia, Palmar tel... |
OMIM:613471 |
Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blood ... |
ORPHA:90041 |
Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Delayed puberty |
ORPHA:251004 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Aortic valve stenosis |
ORPHA:2396 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity, Eczema, Pulmonic stenosis |
ORPHA:488632 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, S... |
OMIM:182250 |
Sarcoidosis |
|
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Uveitis, ... |
ORPHA:797 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral stenosis, Tricuspid stenosis, Mitral regurg... |
OMIM:143095 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension |
OMIM:619758 |
Geleophysic Dysplasia 3 |
|
Pneumonia, Polyhydramnios, Dyspnea, Respiratory failure, Mitral regurgitation |
OMIM:617809 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Keratoconjunc... |
OMIM:601675 |
Marfan Syndrome |
|
Congestive heart failure, Mitral valve calcification, Arthralgia/arthritis, Mitral valve prolapse |
ORPHA:558 |
Degcags Syndrome |
|
Tachycardia, Pneumonia, Asthma, Rhinitis, Pulmonic stenosis, Tracheomalacia, Pulmonary arterial h... |
OMIM:619488 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Alagille Syndrome |
|
Hypertension, Telangiectasia of the skin, Delayed puberty |
ORPHA:52 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Microcolon |
OMIM:619362 |
Birk-Landau-Perez Syndrome |
|
Hypertension |
OMIM:617595 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Thymus hyperplasia, Abnormal dental enamel morphology, Testi... |
ORPHA:744 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Optic nerve hypoplasia, Vaginal atresia |
OMIM:617914 |
Williams Syndrome |
|
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:904 |
Herpes Simplex Virus Encephalitis |
|
Respiratory failure requiring assisted ventilation, Leukocytosis, Neutrophilia, Cerebral edema |
ORPHA:1930 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... |
ORPHA:653 |
Lysinuric Protein Intolerance |
|
Protein avoidance, Pancreatitis, Diarrhea, Malnutrition, Truncal obesity, Vomiting, Failure to th... |
OMIM:222700 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericard... |
ORPHA:77261 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension |
OMIM:612925 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:613095 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Hypothyroidism |
ORPHA:98808 |
Nephronophthisis 1 |
|
Hypertension |
OMIM:256100 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Corneal opacity, Eczema, Keratitis, Corneal erosion, Cheilitis, Uveitis, Scleritis,... |
ORPHA:2273 |
Pyruvate Carboxylase Deficiency |
|
Tachypnea, Abnormal pattern of respiration |
ORPHA:3008 |
Bohring-Opitz Syndrome |
|
Bradycardia |
ORPHA:97297 |
Psoriasis 14, Pustular |
|
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis |
OMIM:614204 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... |
ORPHA:79443 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Hiatus hernia, Feeding difficulties, Constipation, Gastroesophageal reflux... |
ORPHA:2896 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Junctional ectopic tachycardia, Peters anomaly, Histiocytoid cardiomyopat... |
OMIM:309801 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ... |
ORPHA:567983 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Recurrent pneu... |
ORPHA:731 |
Mosaic Trisomy 9 |
|
Corneal opacity |
ORPHA:99776 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Chronic diarrhea, Feeding difficulties, Dysphagia |
OMIM:620358 |
De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea... |
ORPHA:99921 |
Oeis Complex |
|
Omphalocele, Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal... |
OMIM:258040 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Apnea, Chronic rhinitis |
ORPHA:667 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Corneal opacity, Eczema, Astigmatism, Aortic valve stenosis |
ORPHA:464306 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Neonatal respiratory distress, Right-to-left shunt, Pulmonary arterial hypertension, Pleural effu... |
OMIM:265380 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Congenital d... |
OMIM:618280 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Arthrogryposis multiplex congenita, Vaginal atresia |
OMIM:616258 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Abdominal distention, Oste... |
OMIM:256810 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult... |
ORPHA:565 |
Fontaine Progeroid Syndrome |
|
Tricuspid regurgitation, Pneumothorax, Respiratory insufficiency, Pulmonary arterial hypertension... |
OMIM:612289 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Corneal opacity |
ORPHA:79396 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Thrombocytopenia |
ORPHA:3320 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
Mohr-Tranebjaerg Syndrome |
|
Aspiration pneumonia |
ORPHA:52368 |
Adams-Oliver Syndrome 1 |
|
Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:100300 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Telangiectasia, Constipation, Esophagitis, Dysphagia |
ORPHA:495818 |
Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension |
OMIM:309350 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Hypertension, Ischemic stroke, Aortic valve stenosis, Telangiectases of the... |
OMIM:208050 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Bartter Syndrome, Type 1, Antenatal |
|
Increased circulating renin level, Low-to-normal blood pressure |
OMIM:601678 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary arterial hypertension, Neonatal respiratory distress |
OMIM:620025 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Recurrent pneumonia, Recurrent aspiration pneumonia |
OMIM:300472 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Sinusitis, Diarrhea, Recurrent pneumonia, Bronchiectasis, Cleft palate, Recurrent ... |
OMIM:251260 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
OMIM:614052 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Aortic valve stenosis, Astigmatism, Corneal opacity |
ORPHA:464311 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary arterial hypertension, Respiratory failure, Hypertrophic cardiomyopathy, Restrictive ve... |
ORPHA:96334 |
Gm1 Gangliosidosis Type 1 |
|
Decreased beta-galactosidase activity, Hirsutism, Aspiration pneumonia |
ORPHA:79255 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Diarrhea |
OMIM:619313 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension |
ORPHA:2785 |
Parkes Weber Syndrome |
|
Bounding pulse, High-output congestive heart failure, Abnormal B-type natriuretic peptide concent... |
ORPHA:90307 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Pulmonary arterial hypertension |
OMIM:620186 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea, Thick hair |
ORPHA:2751 |
Arima Syndrome |
|
Dyspnea, Tachypnea |
OMIM:243910 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Posterior subcapsular cataract, Aortic valve stenosis, Pulmonic stenosis, Megalo... |
ORPHA:536471 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renovascular hypertension, Large vessel vasculitis, Hypertension, Budd-Chiari syndrome, Hashimoto... |
ORPHA:49041 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Abdominal pain, Chylopericardium, Chylothorax, Ascites |
ORPHA:538 |
Ctcf-Related Neurodevelopmental Disorder |
|
Pulmonary arterial hypertension, Mitral regurgitation, Chronic lung disease, Pulmonary hemorrhage |
ORPHA:363611 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Polyhydramnios, Respiratory insufficiency due to m... |
ORPHA:2020 |
Carney Complex |
|
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... |
ORPHA:1359 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Hardikar Syndrome |
|
Failure to thrive, Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease... |
OMIM:301068 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis |
ORPHA:1272 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Hypertension |
OMIM:301050 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Hypertension |
ORPHA:1555 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
Gaucher Disease |
|
Pulmonary arterial hypertension, Respiratory insufficiency |
ORPHA:355 |
Fanconi Anemia, Complementation Group L |
|
Aplasia of the uterus, Micropenis, Bone marrow hypocellularity, Anemia |
OMIM:614083 |
Renal Hypoplasia, Bilateral |
|
Hypertension |
ORPHA:97362 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Bartter Syndrome, Type 2, Antenatal |
|
Increased circulating renin level, Low-to-normal blood pressure |
OMIM:241200 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Bradycardia |
ORPHA:226307 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension |
ORPHA:2072 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea |
OMIM:229600 |
Cockayne Syndrome Type 1 |
|
Male hypogonadism, Hypertension |
ORPHA:90321 |
Tetrasomy 9P |
|
Pericarditis, Myositis, Dextrocardia, Raynaud phenomenon, Jaundice, Arthritis, Abnormal cardiac s... |
ORPHA:3310 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus |
OMIM:619879 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Spontaneous pneumothorax, Hypertension, Pulmonary arterial hypertension,... |
OMIM:606721 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia |
OMIM:617248 |
Immunodeficiency 55 |
|
Diarrhea, Recurrent skin infections, Eczema |
OMIM:617827 |
Lissencephaly Due To Lis1 Mutation |
|
Polyhydramnios, Aspiration pneumonia |
ORPHA:95232 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension |
OMIM:616914 |
Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Rhinitis, Vomiting |
ORPHA:230 |
Carpenter Syndrome 1 |
|
Microcornea, Pulmonic stenosis, Opacification of the corneal stroma |
OMIM:201000 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal abscess, Hyperlipidemia, R... |
ORPHA:444490 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Cataract, Corneal opacity |
ORPHA:1052 |
Orofaciodigital Syndrome Ix |
|
Recurrent aspiration pneumonia |
OMIM:258865 |
Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Dysphagia, Macroglossia, Tube feeding, Recurrent otitis media |
OMIM:252940 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:99889 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Hypertension, Renovascular hypertension, Cardiomyopathy |
ORPHA:3472 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive in infancy, Poor appetite, Diar... |
ORPHA:247598 |
Trichohepatoneurodevelopmental Syndrome |
|
Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High palate, Decre... |
OMIM:618268 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Elevated hepatic transaminase, Recurrent aspiration pneumonia |
ORPHA:73230 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Abnormal pupil morphology, Cheilitis, Buphthalmos, Arthritis, Lentiglo... |
ORPHA:534 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... |
ORPHA:158668 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea |
OMIM:300953 |
Renal Hypoplasia |
|
Hypertension |
ORPHA:93101 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Bardet-Biedl Syndrome 1 |
|
Nephrogenic diabetes insipidus, Hypertension, Diabetes mellitus, Hypogonadism |
OMIM:209900 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension |
ORPHA:95494 |
Von Hippel-Lindau Syndrome |
|
Hypertension, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Mucopolysaccharidosis, Type Iva |
|
Recurrent pneumonia, Opacification of the corneal stroma |
OMIM:253000 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal ... |
OMIM:600268 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Telangiectasia, Opa... |
ORPHA:910 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, High palate, Chronic diarrhea |
ORPHA:457279 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval |
OMIM:614947 |
Distal Renal Tubular Acidosis |
|
Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive |
ORPHA:18 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Esophagitis, Feeding difficulties |
OMIM:615356 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Portal hypertension, Congestive ... |
ORPHA:64 |
Apert Syndrome |
|
Hypertension |
ORPHA:87 |
Glycogen Storage Disease Ia |
|
Hypertension, Delayed puberty |
OMIM:232200 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Hypospadias, Bifid uterus, Adrenal gland dysgenesis, Abnormal vagi... |
OMIM:236680 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal ulceration, Corneal opacity |
OMIM:615273 |
Nephronophthisis-Like Nephropathy 1 |
|
Hypertension |
OMIM:613159 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Highly arched eyebrow, Curly eyelashes, Synophrys, Low posterior hairline, Long eyelas... |
OMIM:122470 |
Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Hypoplastic fifth fingernail, Recurrent upper respiratory tract... |
ORPHA:1465 |
Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Pituitary growth hormone cell adenoma |
ORPHA:730 |
Galloway-Mowat Syndrome 3 |
|
Hypertension |
OMIM:617729 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension |
OMIM:235400 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Ayme-Gripp Syndrome |
|
Pericarditis |
OMIM:601088 |
Rothmund-Thomson Syndrome |
|
Skin rash, Small for gestational age, Nasogastric tube feeding in infancy, Diarrhea, Vomiting, Ma... |
ORPHA:2909 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Seborrheic dermatitis |
OMIM:274000 |
Xfe Progeroid Syndrome |
|
Hypertension |
OMIM:610965 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Arthritis, Arrhythmia |
ORPHA:217085 |
Rothmund-Thomson Syndrome Type 2 |
|
Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal tract, Cleft ... |
ORPHA:221016 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:314769 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Papillorenal Syndrome |
|
Hypertension |
OMIM:120330 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Heart murmur, Cardiomyopathy, Hypertension, Arthritis, Arrhythmia |
ORPHA:217093 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Hypertension |
OMIM:123790 |
Cerebrotendinous Xanthomatosis |
|
Pseudobulbar paralysis, Diarrhea |
OMIM:213700 |
17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Renovascular hypertension, Hypertension, Pulmonic stenosis, Pulmonary... |
ORPHA:97685 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Rothmund-Thomson Syndrome Type 1 |
|
Small for gestational age, Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiti... |
ORPHA:221008 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak pulse, Le... |
ORPHA:51608 |
Acromegaly |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentrati... |
ORPHA:963 |
Proboscis Lateralis |
|
Cataract, Corneal opacity, Nasolacrimal duct obstruction, Microcornea, Iris coloboma |
ORPHA:141099 |
Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Deeah Syndrome |
|
Malabsorption, Chronic diarrhea, Narrow palate, Chronic constipation, High palate, Dysphagia, Dec... |
OMIM:619004 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Seborrheic dermatitis, Splenomegaly, Truncal obesity, Aspiration pneumonia, Ascites, Thrombocytop... |
OMIM:301072 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Pustule, Keratoconjunctivitis, Opacification of the corneal s... |
ORPHA:2907 |
Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Diarrhea, Episodic abdominal pain, Zollinger-Ellison syndrome, Esophagitis |
ORPHA:276152 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Erythema nodosum, Diarrhea, Crusting erythematous dermatitis,... |
ORPHA:324625 |
Cog1-Cdg |
|
Pulmonary arterial hypertension |
ORPHA:263508 |
Mucopolysaccharidosis Type 2 |
|
Corneal opacity, Cardiomyopathy, Hypertension, Hip osteoarthritis, Arrhythmia |
ORPHA:580 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Renal Agenesis |
|
Hypertension |
ORPHA:411709 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Cataract, Skin rash, Anterior chamber flare, Intermed... |
ORPHA:91500 |
Tay-Sachs Disease |
|
Abnormal circulating enzyme concentration or activity, Aspiration pneumonia |
ORPHA:845 |
Myhre Syndrome |
|
Precocious puberty, Hypertension, Hypogonadism |
ORPHA:2588 |
Proximal Renal Tubular Acidosis |
|
Diarrhea, Failure to thrive, Vomiting, Malabsorption |
ORPHA:47159 |
Chime Syndrome |
|
Corneal opacity |
ORPHA:3474 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Left-to-right shunt, Cardiac arrest, Portal hypert... |
OMIM:619534 |
Oligomeganephronia |
|
Hypertension |
ORPHA:2260 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract |
OMIM:612132 |
Bartter Syndrome Type 4 |
|
Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... |
ORPHA:89938 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Chronic constipation, Chronic diarrhea, High palate, Decreased body weight |
OMIM:619005 |
Limb-Mammary Syndrome |
|
Absent nipple, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, Aplasia of the u... |
ORPHA:69085 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Cataract, Brushfield spots, Heart murmur, Mitral r... |
OMIM:614866 |
Alg9-Cdg |
|
Villous atrophy, Diarrhea, Gastroesophageal reflux, Vomiting, Bifid uvula |
ORPHA:79328 |
Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension |
OMIM:104200 |
Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, Bicornuate uterus, Epididymal c... |
OMIM:137920 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214100 |
Viss Syndrome |
|
Epidural hemorrhage, Dyspnea, Asthma, Pneumothorax, Pulmonary arterial hypertension, Emphysema |
OMIM:619472 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Small for gestational age, Hepatic failure, Intractable diarrhea, Failure to thr... |
OMIM:222470 |
Scalp-Ear-Nipple Syndrome |
|
Type I diabetes mellitus, Hypertension |
ORPHA:2036 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Hypertension, Lisch nodules, Heterochromia iridis |
ORPHA:636 |
Carey-Fineman-Ziter Syndrome |
|
Hypertensive crisis |
ORPHA:1358 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Dubowitz Syndrome |
|
Eczema, Feeding difficulties in infancy, Velopharyngeal insufficiency, Submucous cleft hard palat... |
OMIM:223370 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Recurrent urinary tract infections, Aspiration pneumonia |
ORPHA:99027 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cardiac conducti... |
ORPHA:353281 |
Occipital Horn Syndrome |
|
Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Gastroesophageal reflux, Esophagiti... |
ORPHA:198 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Senior-Boichis Syndrome |
|
Hypertension, Portal hypertension |
ORPHA:84081 |
48,Xxxy Syndrome |
|
Asthma, Pulmonary embolism |
ORPHA:96263 |
Dubowitz Syndrome |
|
Anal stenosis, Eczema, Malabsorption, Rectal prolapse, Submucous cleft hard palate, Chronic diarr... |
ORPHA:235 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Recurrent pneumonia, Cleft palate, ... |
ORPHA:647 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Abscess, Anemia, Recurrent Staphylococcus aureus infections, Syncope, S... |
ORPHA:642 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Omphalocele, Inguinal hernia, Bifid uterus, Cryptorchidism, Epispadias, Cystocele,... |
ORPHA:322 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Wilson Disease |
|
Kayser-Fleischer ring, Osteoarthritis, Atypical or prolonged hepatitis |
OMIM:277900 |
Alkaptonuria |
|
Hypertension, Myocardial infarction |
ORPHA:56 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension |
OMIM:613355 |
Microphthalmia, Syndromic 3 |
|
Cataract, Sclerocornea |
OMIM:206900 |
49,Xxxxy Syndrome |
|
Asthma, Pulmonary embolism |
ORPHA:96264 |
Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Cataract, Opacification of the corneal stroma |
OMIM:251300 |
Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea, Obesity |
OMIM:620072 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Hypertension, Pheochromoc... |
ORPHA:805 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level |
OMIM:110100 |
Alport Syndrome |
|
Hypertension |
ORPHA:63 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Mitral regurgitation |
OMIM:611962 |
Au-Kline Syndrome |
|
Hypertension |
OMIM:616580 |
Wolf-Hirschhorn Syndrome |
|
Chronic otitis media, Megalocornea, Iris coloboma, Sclerocornea |
ORPHA:280 |
Meckel Syndrome |
|
Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea |
ORPHA:564 |
Cockayne Syndrome A |
|
Hypertension, Arrhythmia, Thymic hormone decreased, Hypogonadism |
OMIM:216400 |
Mowat-Wilson Syndrome |
|
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... |
ORPHA:2152 |
Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
Retinoblastoma |
|
Subretinal pigment epithelium hemorrhage, Hyphema, Leukocoria, Uveitis, Vitreous hemorrhage, Hypo... |
ORPHA:790 |
Peters Plus Syndrome |
|
Cataract, Corneal opacity, Microcornea, Pulmonic stenosis, Peters anomaly, Iris coloboma, Anterio... |
ORPHA:709 |
Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
Semilobar Holoprosencephaly |
|
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... |
ORPHA:93924 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Osteoarthritis, Corneal opacity, Cerebral hemorrhage |
ORPHA:666 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Bil... |
OMIM:194190 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Chronic diarrhea, Episodic vomiting, Obesity, Feeding difficulties, Truncal ... |
OMIM:615873 |
Van Den Ende-Gupta Syndrome |
|
Sclerocornea |
OMIM:600920 |
Okamoto Syndrome |
|
Omphalocele, Splenomegaly, Bifid uterus |
ORPHA:2729 |
Denys-Drash Syndrome |
|
Hypertension |
OMIM:194080 |
Cockayne Syndrome |
|
Diabetes mellitus, Retinal hemorrhage, Absence of pubertal development, Hypertension, Delayed pub... |
ORPHA:191 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Hypertrop... |
ORPHA:116 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hypertension |
OMIM:266920 |
Niemann-Pick Disease Type C |
|
Low cholesterol esterification rate, Jaundice, Abnormal lung morphology, Respiratory insufficienc... |
ORPHA:646 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea |
OMIM:619869 |
Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Polyhydramnios, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Polyhydramnios, ... |
ORPHA:353277 |
Cockayne Syndrome B |
|
Hypertension, Arrhythmia |
OMIM:133540 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Orofaciodigital Syndrome I |
|
Hypertension |
OMIM:311200 |
Neurofibromatosis, Type I |
|
Parathyroid adenoma, Hypertension, Pheochromocytoma |
OMIM:162200 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hypertension |
OMIM:617913 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Iris coloboma, Sclerocornea |
ORPHA:818 |
Zttk Syndrome |
|
Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhea, Feeding difficult... |
OMIM:617140 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Small for gestational age, Feeding difficulties in infancy, Nasogast... |
ORPHA:508488 |
Smith-Lemli-Opitz Syndrome |
|
Precocious puberty, Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation |
OMIM:270400 |
Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... |
OMIM:263650 |
Orofaciodigital Syndrome Type 1 |
|
Hypertension |
ORPHA:2750 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent respiratory infections, Small for gestational age, Pneumonia, Hypoplasia of the thymus,... |
OMIM:264090 |
Myhre Syndrome |
|
Hypertension, Aortic valve stenosis |
OMIM:139210 |
Fraser Syndrome 1 |
|
Corneal opacity |
OMIM:219000 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Small for gestational age, Intestinal malrotation, Feeding difficulties, Intermittent diarrhea, F... |
ORPHA:2255 |
Ataxia-Telangiectasia |
|
Chronic diarrhea, Failure to thrive, Sinusitis, Bronchiectasis |
OMIM:208900 |
Cranioectodermal Dysplasia 2 |
|
Hypertension |
OMIM:613610 |
Pearson Syndrome |
|
Small for gestational age, Exocrine pancreatic insufficiency, Chronic diarrhea, Dysphagia, Steato... |
ORPHA:699 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Heart murmur, Aspiration pneumonia, Cardiomyopathy |
OMIM:216340 |
Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Recurrent skin infections, Corneal opacity, Synovitis, Pulmonic stenosis, Recurrent oti... |
ORPHA:3455 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... |
OMIM:107480 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... |
ORPHA:391665 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Decreased serum iron, Pulmonary embolism, Dyspnea, Hypertension, Budd-Chia... |
ORPHA:447 |
Lathosterolosis |
|
Cataract, Opacification of the corneal stroma |
OMIM:607330 |
Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Hypertension |
ORPHA:536 |
Pierson Syndrome |
|
Hypertension, Retinal hemorrhage |
OMIM:609049 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Pericardial effusion, Reduced thyro... |
ORPHA:79318 |
Digeorge Syndrome |
|
Acne, Sclerocornea, Seborrheic dermatitis, Recurrent pneumonia, Recurrent sinusitis, Recurrent ot... |
OMIM:188400 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism, Yellow subcutaneous tissue covered by thin, scaly skin, Camptodacty... |
OMIM:256520 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Pulmonary embolism |
ORPHA:3205 |
Coffin-Siris Syndrome 1 |
|
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the ute... |
OMIM:135900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma |
OMIM:253280 |
Williams-Beuren Syndrome |
|
Diabetes mellitus, Portal hypertension, Early onset of sexual maturation, Hypertension, Mitral re... |
OMIM:194050 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Abnormality of the endocrine system, Precocious ... |
ORPHA:438213 |
Occipital Horn Syndrome |
|
Chronic diarrhea, High palate, Hiatus hernia |
OMIM:304150 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hypertension |
OMIM:210710 |
Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Camptodactyly of finger, Uterine rupture |
ORPHA:60030 |
Renal Dysplasia |
|
Hypertension |
ORPHA:93108 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Elbow flexion contracture, Anteriorly displaced genit... |
OMIM:276820 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnorm... |
OMIM:261540 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Premature thelarche, Autoimmune thrombocytopenia, Congenital hypothyroidism, Re... |
OMIM:147920 |
Multiple Osteochondromas |
|
Arthritis, Pneumothorax, Hemothorax |
ORPHA:321 |
Lafora Disease |
|
Hepatic failure, Recurrent aspiration pneumonia |
ORPHA:501 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Opacification of the corneal stroma |
OMIM:268300 |
Doors Syndrome |
|
Respiratory distress, Abnormal fingernail morphology, Low anterior hairline, Absent fingernail, A... |
ORPHA:79500 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy, Gastrointestinal dy... |
ORPHA:500150 |
Keutel Syndrome |
|
Hypertension, Pulmonic stenosis |
OMIM:245150 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Hypertension |
OMIM:300896 |
Fryns Syndrome |
|
Opacification of the corneal stroma |
OMIM:229850 |
Nmda Receptor Encephalitis |
|
Diarrhea, Vomiting |
ORPHA:217253 |
Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea |
ORPHA:909 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma |
OMIM:615287 |
Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Small scrotum, Hypospadias, Supernumerary nipple, Congenital diaphr... |
OMIM:601803 |
Microphthalmia, Syndromic 6 |
|
Microcornea, Sclerocornea |
OMIM:607932 |
Aspartylglucosaminuria |
|
Macroglossia, Diarrhea, Acne |
OMIM:208400 |
Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Cystocele, Cigarette-paper scars, Uterine rupture, ... |
ORPHA:286 |