| Glycogen Storage Disease 0, Muscle |
|
Exercise intolerance, Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy,... |
OMIM:611556 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
| Muscle Filaminopathy |
|
Back pain, Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfu... |
ORPHA:171445 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Inability to walk, ... |
ORPHA:206546 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Post... |
ORPHA:3092 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Fatigue, Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Bradykinesia, Poor f... |
ORPHA:171442 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
| Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Right atrial enlargement, Global sys... |
ORPHA:57777 |
| Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Exercise intolerance, Scapular winging, Ataxia, Facial palsy, Elevated circulating creatine kinas... |
ORPHA:254886 |
| Ethanolaminosis |
|
Death in infancy, Cardiomegaly |
OMIM:227150 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
OMIM:253700 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
| Childhood-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominance, Mildly ele... |
ORPHA:171439 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Sudden death, Mitral valve prolapse, Left ventricular hyp... |
OMIM:614676 |
| Myofibrillar Myopathy 10 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... |
OMIM:619040 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Obesity, Dysm... |
ORPHA:93952 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Hepatomegaly, Chorea, Right ventricular dilatation, Myopathy, Abnormal circulating... |
ORPHA:369840 |
| Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... |
OMIM:606685 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Lower limb spasticity, Dystonia, Ataxia, Spasticity, Gait ataxia, Gait disturbance, Difficulty wa... |
OMIM:614458 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Biventricular hypertrophy, Coarctation of aorta, Telangiectasia, Abnormal cir... |
ORPHA:101028 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Myocardial infarction, Abnormal hair whorl, Squamous cell carcinoma, Pre... |
ORPHA:902 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Congestive heart failure, Bradycardia, Le... |
OMIM:619048 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Premature loss of primary teeth, Ovarian neoplasm, Squamous cell carcinoma, Basal cell ... |
ORPHA:50944 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Impaired distal prop... |
OMIM:258450 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Right ventricular dilatation, Myopathy, Hyperkinetic movements, Myalgia, Limb-girdle musc... |
ORPHA:369847 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Pedal edema, Weight loss, Pleural effus... |
ORPHA:188 |
| Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Skeletal muscle atrophy, Ataxia, Abnormal pyramidal sign, Left ventricular hypertrophy, Lethargy,... |
OMIM:618228 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Urinary incontinence, Tremor, Rigidity, Chorea, Abnormal circulating calcium concen... |
OMIM:213600 |
| Developmental And Epileptic Encephalopathy 109 |
|
Gait ataxia, Crouch gait, Myoclonus, Left ventricular hypertrophy, Spasticity, Failure to thrive |
OMIM:620145 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Waddling gait, Elevated circulating creatine kinase concentration, Abdominal pain, Centrally nucl... |
ORPHA:86812 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Chest pain, Left ventricular hypertrophy, Hy... |
OMIM:613874 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spastic diplegi... |
ORPHA:401866 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Abnormal atrioventricular conducti... |
ORPHA:3208 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e... |
OMIM:540000 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Dystonia 16 |
|
Generalized dystonia, Postural tremor, Involuntary movements, Parkinsonism, Abnormal pyramidal si... |
OMIM:612067 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Fatigue, Anomalous pu... |
ORPHA:99104 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Brain neoplasm, Palmoplantar hyperkeratosis, Squamous cell carcinoma, Prostate cancer, Adenocarci... |
ORPHA:79501 |
| Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Exercise intolerance, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
OMIM:615418 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Flexion contracture, Squamous cell carcinoma, Gastroesophageal reflux, H... |
ORPHA:89842 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Ataxia, Poor coordination, Abnormal heart morphology, Coarctation of a... |
ORPHA:261183 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Recurrent respiratory infections, Atrial fibrillation, Tricuspid regurgitation, Lef... |
ORPHA:75249 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Distal lower limb amyotrophy, Lower limb spasticity, Impaired vibratory sensation, Distal lower l... |
ORPHA:100984 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... |
OMIM:602390 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
| Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
| Carvajal Syndrome |
|
Woolly hair, Congestive heart failure, Dilated cardiomyopathy, Patchy palmoplantar hyperkeratosis |
ORPHA:65282 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
| Endocardial Fibroelastosis |
|
Hypoplasia of penis, Congestive heart failure, Cryptorchidism, Endocardial fibroelastosis, Restri... |
ORPHA:2022 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Patent ductus arteriosus, Coarctation ... |
OMIM:614857 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Failure to thrive, Hyperalaninemia |
OMIM:616974 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart fa... |
OMIM:269920 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Choreoathetosis, Dystonia, Atrial septal defect, Spasticity |
OMIM:614249 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
| Maternally-Inherited Diabetes And Deafness |
|
Renal insufficiency, Proteinuria, Malabsorption, Congestive heart failure, Hypertension, Arrhythm... |
ORPHA:225 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Schopf-Schulz-Passarge Syndrome |
|
Poroma, Squamous cell carcinoma, Hyperkeratosis, Basal cell carcinoma, Palmoplantar keratoderma, ... |
OMIM:224750 |
| Junctional Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Gastrointestinal inflammation, Bas... |
ORPHA:79405 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilated car... |
OMIM:619167 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... |
OMIM:608099 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Elevated circulating creatine ki... |
OMIM:300280 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
| Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
| Noonan Syndrome 8 |
|
Failure to thrive, Ventricular septal defect, Large for gestational age, Cryptorchidism, Patent d... |
OMIM:615355 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Facial palsy, Elevated circulating creatine kinase concent... |
OMIM:613156 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Hy... |
OMIM:616733 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Fatigue, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclo... |
ORPHA:314632 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Alopecia, Cachexia, Malabsorption, Lymphedema, Splenomegaly, ... |
ORPHA:2930 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Fatigue, Gangrene, Abnormal heart valve morphology, Myocardial i... |
ORPHA:3287 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... |
OMIM:614300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Hypomi... |
OMIM:300423 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Gastrointestinal inflammation, Bas... |
ORPHA:79406 |
| Atypical Juvenile Parkinsonism |
|
Fatigue, Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, ... |
ORPHA:391411 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Ventricular septal defect, Spastic tetraplegia, Biventricular hypertrophy, Hypert... |
OMIM:615474 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypertonia, Bradycardia, Dystonia, Left ventricular hypertrophy, Hyperalaninemia, Decreased level... |
OMIM:614654 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Broad-based gait, Tricuspid regurgitation, Right ventricular dila... |
OMIM:619705 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Large for gestational... |
ORPHA:363705 |
| Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Bradykinesia, T-wave inversion, Bradycardia, Shuffling ... |
ORPHA:228346 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Fatigue, Exercise intolerance, Increased serum pyruvate, Ataxia, Congestive heart failure, Dilate... |
ORPHA:1349 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Gastrointestinal inflammation, Bas... |
ORPHA:79411 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... |
ORPHA:1354 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Hepatomegaly, Ventricular septal defect, Coarctation of aorta |
OMIM:620210 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
| Scimitar Syndrome |
|
Heart block, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Sing... |
ORPHA:185 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,... |
OMIM:601127 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Cardiomyopathy, Myopathy, Ethylmalonic aciduria... |
ORPHA:26792 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Abnormal coronary artery morphology, Subarterial ventricular septal defect... |
ORPHA:99094 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septa... |
OMIM:249670 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling... |
ORPHA:306692 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Carcinoma, Squamous cell carcinoma, Palmoplantar keratoderma, Nail dystrophy, Foll... |
OMIM:615225 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... |
OMIM:300911 |
| Paget Disease Of Bone 6 |
|
Left ventricular hypertrophy, Bone pain, Coronary artery atherosclerosis |
OMIM:616833 |
| Double Outlet Right Ventricle |
|
Failure to thrive, Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart m... |
ORPHA:3426 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia... |
ORPHA:1120 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Appendicular spasticity, Ventricular septal defect, Inability to walk, Cryptorchidism, Abnormal h... |
OMIM:618494 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Exercise intolerance, Rigors, Tricuspid regurgitation, Failure to thrive in infancy, Congestive h... |
ORPHA:746 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Small for gestational age, Malabsorption, Fl... |
OMIM:601675 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Elevated cir... |
OMIM:255160 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
| Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Small for gestational age, Splenomegaly, Patent ductus a... |
OMIM:606003 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Hypomimic fac... |
OMIM:615528 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Sandhoff Disease |
|
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Congestive heart failure, Failure t... |
ORPHA:796 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Oral mucosal blisters, Carious teeth, Esophageal stricture, Squamous cell car... |
ORPHA:79409 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Skeletal muscle atrophy, Dicarboxylic acidu... |
ORPHA:42 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... |
OMIM:608978 |
| Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Neoplasm, Myocardial infarction |
ORPHA:132 |
| Mulibrey Nanism |
|
Hepatomegaly, Dental crowding, Cardiomegaly, Congestive heart failure, Microglossia, Myocardial f... |
OMIM:253250 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Dystonia, Ataxia, Parkinsonism, Urinary incontinence, Rigidity, Chorea, Dysmetr... |
OMIM:607136 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face |
OMIM:128235 |
| Myofibrillar Myopathy 11 |
|
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Coarctation of... |
OMIM:619178 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... |
OMIM:616198 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni... |
OMIM:618824 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Myopathy, Arrhy... |
ORPHA:157973 |
| Kufor-Rakeb Syndrome |
|
Fatigue, Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Ba... |
OMIM:606693 |
| Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Telangiectasia, Squamous cell carcinoma |
ORPHA:90342 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... |
OMIM:612863 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:612877 |
| Naxos Disease |
|
Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Cleft upper lip... |
ORPHA:34217 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
| Naxos Disease |
|
Prolonged QRS complex, Cardiomegaly, Subungual hyperkeratosis, Sudden cardiac death, Sparse eyebr... |
OMIM:601214 |
| White Forelock With Malformations |
|
Atrial septal defect, Prominent veins on trunk |
OMIM:277740 |
| Huntington Disease |
|
Dystonia, Clonus, Involuntary movements, Abnormal libido, Rigidity, Inability to walk, Chorea, Ba... |
ORPHA:399 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Distal amyotrophy, Tip-toe gait, Gait dist... |
OMIM:615643 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... |
OMIM:616710 |
| Non-Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h... |
ORPHA:141179 |
| Congenital Gerbode Defect |
|
Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morphology, Constri... |
ORPHA:99095 |
| Noonan Syndrome 9 |
|
Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... |
OMIM:611705 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Carious teeth, Breast carcinoma, T... |
OMIM:614564 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Hypogonadotropic hypogonadism, Cardiomegaly, Congestive heart failure, Sp... |
OMIM:235200 |
| Anonychia With Flexural Pigmentation |
|
Macular telangiectasia, Abnormal hair morphology, Carious teeth, Hyperkeratosis, Follicular hyper... |
ORPHA:69125 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Quadriceps muscle weakness, Ragged-re... |
ORPHA:254892 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophrys, Hyperprolin... |
OMIM:619064 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Limb ataxia, Bradykinesia, Upper limb s... |
OMIM:618418 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Renal in... |
ORPHA:31826 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive c... |
ORPHA:248111 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Pleural ... |
ORPHA:542323 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Small for gestational age, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Choreoa... |
OMIM:261640 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Elevated circulating creatine kinase concentration, Cardiomegaly,... |
ORPHA:308552 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Increased circulating ferritin concentratio... |
OMIM:613313 |
| Disseminated Superficial Actinic Porokeratosis |
|
Porokeratosis, Squamous cell carcinoma |
ORPHA:79152 |
| Congenital Disorder Of Glycosylation, Type It |
|
Fatigue, Hepatomegaly, Tachycardia, Exercise intolerance, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:615440 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Fatigue, Ataxia, Cardiomegaly, Dysesthesia, Congestive heart failure, Babinski sign, Unsteady gai... |
OMIM:619259 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hy... |
ORPHA:465508 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Dysphagia, Lethargy, Hypertrophic... |
OMIM:613561 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Fatigue, Exercise intolerance, Premature ovarian insufficiency, Parkinsonism, Ragged-red muscle f... |
OMIM:609286 |
| Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, H... |
ORPHA:238455 |
| Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
| Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Perineal hemangioma, Congestive heart failure, Midfrontal capillary h... |
ORPHA:141184 |
| Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Tremor, Scissor gait, Opisthotonus, Limb dyst... |
OMIM:617013 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
| Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Hyperkeratosis lenticularis perstans, Squamous cell carcinoma |
ORPHA:409 |
| Congenital Heart Block |
|
Fatigue, Exercise intolerance, First degree atrioventricular block, Gallop rhythm, Pericardial ef... |
ORPHA:60041 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... |
ORPHA:70587 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Abnormal cardiac ventricular fun... |
ORPHA:2394 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Renal insufficiency, Lethargy |
ORPHA:254857 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Pneumonia, Anal canal squamous carcinoma, Squamous cell carcino... |
ORPHA:217390 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Neoplasm, Neoplasm of the skin |
ORPHA:315 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... |
OMIM:617718 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Malabsorption, Hypomagnesemia, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
| Rothmund-Thomson Syndrome Type 1 |
|
Facial edema, Squamous cell carcinoma, Sparse hair, Microdontia, Calcinosis, Abnormal dental enam... |
ORPHA:221008 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Squamous cell carcinoma, Gastrointestinal inflammation, ... |
ORPHA:79408 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Xerostomia, Gingivitis, Squamous cell carcinoma, Palmoplantar hyperke... |
ORPHA:2907 |
| Hemochromatosis, Type 4 |
|
Fatigue, Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturat... |
OMIM:606069 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Postexertional ... |
ORPHA:2299 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Facial hypotonia, Tremor, Babinski sign, Spastic ... |
OMIM:300055 |
| Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
| Mogs-Cdg |
|
Hepatomegaly, Alopecia, Fair hair, Pulmonary edema, External genital hypoplasia, Edema, Cardiomeg... |
ORPHA:79330 |
| Hemochromatosis, Type 3 |
|
Fatigue, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated tr... |
OMIM:604250 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Dilated cardiomyop... |
ORPHA:79230 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:276556 |
| Isolated Right Ventricular Hypoplasia |
|
Fatigue, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventr... |
ORPHA:439 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly of finger, Congesti... |
ORPHA:1194 |
| Diencephalic Syndrome |
|
Cachexia, Long penis, Neoplasm of the nervous system, Everted lower lip vermilion, Decreased body... |
ORPHA:1672 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis, Squamous cell carcinoma |
OMIM:613736 |
| Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... |
OMIM:601186 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Fatigue, Hepatomegaly, Exercise intolerance, Cardiac arrest, Elevated circulating creatine kinase... |
OMIM:617713 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Cednik Syndrome |
|
Proteinuria, Abnormality of the dentition, Congestive heart failure, Diffuse palmoplantar hyperke... |
ORPHA:66631 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect... |
OMIM:620135 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Eosinophilic infiltration of the esophag... |
OMIM:243700 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Benign neoplasm of the central nervous system, Cryptorchidism, Hamartoma of tongue, Subvalvular a... |
ORPHA:1338 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Flexion contracture, Keratoacanthoma, Squamous cell carcinoma, Basal cell c... |
OMIM:278760 |
| Rothmund-Thomson Syndrome |
|
Selective tooth agenesis, Facial edema, Squamous cell carcinoma, Sparse hair, Microdontia, Calcin... |
ORPHA:2909 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Warty Dyskeratoma |
|
Vulvar neoplasm, Abnormality of the alveolar ridges, Acrokeratosis, Acantholysis, Oral mucosa nod... |
ORPHA:69745 |
| Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Micropenis, Gingival bleeding, ... |
ORPHA:335 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Gastrointestinal inflammation, Bas... |
ORPHA:79410 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Nonimmune hydrops fetalis, Portal hypertension, Polyhydram... |
ORPHA:367 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Decreased muscle mass, Tented upper lip vermilion, Facial hypotonia, Highly arched eyebrow, Polyh... |
ORPHA:500533 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Increased serum pyruvate, Congestive heart failure, Ragged-red muscle fibers, Polyhydramnios |
OMIM:616794 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Fatigue, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism... |
ORPHA:70591 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Ventricular tachycardia, Atrioventricular blo... |
ORPHA:26793 |
| Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta |
ORPHA:1923 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance |
OMIM:609161 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Patent ductus arteriosus, Poor coordination, Ventricular septal defect, Gait ataxia |
OMIM:619717 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Congestive heart failure, Dilate... |
OMIM:605676 |
| Cheilitis Glandularis |
|
Thick lower lip vermilion, Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
| Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... |
ORPHA:324604 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:276575 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Necrobiosis Lipoidica |
|
Telangiectasia of the skin, Squamous cell carcinoma |
ORPHA:542592 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Abnormal reproductive system morphology, Congestive heart failure, Abno... |
ORPHA:70472 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling ga... |
OMIM:221820 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... |
OMIM:301500 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Nephropathy... |
ORPHA:324 |
| Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
| Mucolipidosis Type Iii |
|
Abnormal heart valve morphology, Fatigue, Abnormal aortic valve morphology |
ORPHA:577 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Sudden cardiac death, Congestiv... |
OMIM:610198 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... |
ORPHA:90308 |
| 8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,... |
DECIPHER:39 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysf... |
OMIM:105210 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Fatigue, Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Progressive fl... |
ORPHA:98808 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Recurrent respiratory infections, Median cleft lip, Ventricular septal ... |
OMIM:174300 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal internal carotid arter... |
ORPHA:365 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hypertonia, Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Gai... |
ORPHA:309854 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Hydrops fetalis, C... |
ORPHA:2414 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Failure to thrive, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Parkinsonism, Oculogyric crisis, Bradykinesia, Hypertonia, Dystonia, Limb hyper... |
OMIM:617384 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... |
ORPHA:102 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia, Spastic gait |
OMIM:619052 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Fatigue, Atrial fibrillation, Sudden cardiac death, Congestive h... |
ORPHA:1880 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Hyponatremia, Myocardial infar... |
ORPHA:3452 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, ... |
OMIM:201475 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Dehydration, Hyperammonemia, Cardiomyopathy, Let... |
ORPHA:79312 |
| Autosomal Recessive Centronuclear Myopathy |
|
Waddling gait, Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, ... |
ORPHA:169186 |
| Kid Syndrome |
|
Sparse eyelashes, Angular cheilitis, Lip fissure, Abnormality of the dentition, Sparse eyebrow, S... |
ORPHA:477 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... |
OMIM:618234 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal oral mucosa morphology, Edema, Abnormal blood ion concentration, Deh... |
ORPHA:79404 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Raynaud phenomen... |
ORPHA:227510 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypertrophic cardiomyopathy, Lethargy |
OMIM:246900 |
| Leber Optic Atrophy And Dystonia |
|
Skeletal muscle atrophy, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfun... |
OMIM:500001 |
| Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... |
OMIM:616564 |
| Rheumatic Fever |
|
Fatigue, Pericarditis, Abnormal heart valve morphology, Epistaxis, Abdominal pain, Myocarditis, C... |
ORPHA:3099 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Hypercholesterolemia, Preco... |
ORPHA:528 |
| Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Abnormal lung morphology, Hyperparakerato... |
ORPHA:182 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypertension, Hypogonadism, Dysphagia, Limb musc... |
ORPHA:97229 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Ragged-red ... |
OMIM:613662 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis, Hamartoma |
ORPHA:139414 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
| Mantle Cell Lymphoma |
|
Fatigue, Splenomegaly, Weight loss |
ORPHA:52416 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Vasculitis, Hypotension, Pulmonary edema |
ORPHA:70578 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Tremor, Decreased serum creatinine, Atrial septal defect, Failure to thriv... |
OMIM:617744 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Fatigue, Tricuspid regurgitation, Abnormal heart v... |
ORPHA:230851 |
| Congenital Myopathy 11 |
|
Waddling gait, Patent ductus arteriosus, Abnormal circulating creatine kinase concentration, Atri... |
OMIM:619967 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Lethargy, Hypertroph... |
ORPHA:276580 |
| Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu... |
OMIM:617159 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
| Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Postural tremor, Chorea, Slurred speech, Impaired proprioception, Dysmet... |
ORPHA:98755 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Cachexia, Ileus, Ovarian neoplasm, N... |
ORPHA:83469 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Hypertonia, Ventricular septal defect |
OMIM:608227 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Urinary incontinence, Rigidi... |
OMIM:183090 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal te... |
ORPHA:85446 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated circul... |
OMIM:619355 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Raynaud phenomenon, Rigidity, Abno... |
ORPHA:98933 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Failure to thrive, Cryptorchidism, Obesity, Conotruncal defect, Coarctation... |
ORPHA:96147 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fin... |
OMIM:613280 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentrat... |
OMIM:613153 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Tooth agenesis, Hype... |
OMIM:615821 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Skeletal muscle atrophy, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, B... |
OMIM:615157 |
| Papillon-Lefèvre Syndrome |
|
Recurrent respiratory infections, Severe periodontitis, Premature loss of primary teeth, Abnormal... |
ORPHA:678 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Alopecia, Oral mucosal blisters, Esophageal stricture, Flexio... |
OMIM:226600 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Generalized dystonia, Ataxia, Dystonia, Chorea, Dilated cardiomyopathy, Spastic tetr... |
OMIM:618321 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... |
ORPHA:94080 |
| Moynahan Syndrome |
|
Alopecia, Cachexia, Hyperkeratosis, Hypogonadism, Sparse hair |
ORPHA:2574 |
| Acrocardiofacial Syndrome |
|
Death in infancy, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Cryptorchi... |
ORPHA:2008 |
| Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Rhabdomyolysis, Di... |
OMIM:618120 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp... |
ORPHA:70594 |
| Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Wolff-Parkinson-White syndrome, Incoordination, Ataxia, Dystonia, Dysmetria, Gait ataxia, Hemipar... |
OMIM:601338 |
| Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... |
ORPHA:2876 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso... |
ORPHA:73224 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Anteriorly placed anus, High pala... |
OMIM:619148 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Broad-based gait, Incoordination, Ventricular septal defect, Gait ataxia, Oligomenorrhea, Intenti... |
OMIM:620393 |
| Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Urinary incontine... |
OMIM:300623 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ataxia, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ambiguous genitalia, Tricuspid regurgitation, Ventricular septal defect, Intestinal malrotation, ... |
OMIM:263520 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
| Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... |
ORPHA:157941 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Trigeminal neuralgia, Chorea, Babinski sign, Abnormal pyramidal sign... |
ORPHA:282166 |
| Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Hyperglycemia |
ORPHA:2056 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Dicarboxylic aciduria, Cardiac arrest, Elevated circulatin... |
OMIM:212138 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Macrodontia, Hypospadias, Cache... |
ORPHA:3242 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary adenoma, Cardiomyopathy, Hypertension, Pituitary prolactin cell adenoma, Pituitary grow... |
OMIM:102200 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Ataxia, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Stroke... |
OMIM:249270 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Broad-based gait, Scapular winging, Calf muscle pseudohypertrophy, Elevated circul... |
ORPHA:353 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition |
OMIM:617756 |
| Rothmund-Thomson Syndrome Type 2 |
|
Facial edema, Squamous cell carcinoma, High palate, Sparse hair, Microdontia, Calcinosis, Abnorma... |
ORPHA:221016 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Ventricular septal defect, Spasticity, Bradycardia, Dystonia, Hypertrophic card... |
OMIM:616277 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Papillary renal cell carcinoma, Intracranial hemorrhage, Premature graying of hair, Sparse hair, ... |
ORPHA:363618 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Death in infancy |
OMIM:614876 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Fatigue, Lethargy, Failure to thrive, Gait disturbance |
ORPHA:79283 |
| Dk1-Cdg |
|
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... |
ORPHA:91131 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Fatigue, Skeletal muscle atrophy, Precocious atherosclerosis, Mitral... |
ORPHA:230839 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Large for gestational age, Pericardial effusion, Cardiomegaly, Patent duct... |
OMIM:239850 |
| Idiopathic Bronchiectasis |
|
Cachexia, Myocardial infarction, Respiratory tract infection, Emphysema, Bronchiectasis, Acute in... |
ORPHA:60033 |
| Costello Syndrome |
|
Ventricular septal defect, Failure to thrive in infancy, Abnormal dental enamel morphology, Abnor... |
ORPHA:3071 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Hypovolemia, Capillary ... |
ORPHA:64739 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, Congestive heart failur... |
ORPHA:324410 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Telangiectasia of the skin, Abnormal dental enamel morphology, Gingiva... |
ORPHA:3019 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Fatigue, Waddling gait, Myotonia, Elevated circulating creatine kinase concentration, Tremor, Pro... |
ORPHA:209335 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Urinary incontinence, Myoclonus, Dystonia, Atrial septal defect, Spasticity |
OMIM:620094 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic ... |
ORPHA:79076 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial septal defect |
OMIM:615981 |
| Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, High palate, Sparse hair, Alopecia, Hamartoma of tongue, Cleft upper ... |
OMIM:311200 |
| Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb mu... |
OMIM:266500 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Fatigue, Hepatomegaly, Skeletal muscle atrophy, Sudden cardiac death, Hemiplegia/hemiparesis, Arr... |
ORPHA:156 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Decreased circul... |
ORPHA:324575 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
| Pulmonary Hypertension, Primary, 5 |
|
Fatigue, Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Ri... |
OMIM:265400 |
| Bardet-Biedl Syndrome 19 |
|
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Obesi... |
OMIM:615996 |
| Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis... |
ORPHA:3097 |
| Acquired Ichthyosis |
|
Renal insufficiency, Lymphoma, Hyperkeratosis, Neoplasm, Palmoplantar keratoderma, Multiple myelo... |
ORPHA:454 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Fatigue, Arthrogryposis multiplex congenita, Failure to thrive, Falls |
OMIM:616326 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Flexion contracture, Spastic tetraplegia, Myopathy, Dystonia, Neonatal death, Hypertrophic cardio... |
OMIM:618237 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Small scrotum, Hypospadias, Edema, Congestive heart failure, Thickened skin, Cryptorchidism, Clef... |
ORPHA:2505 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Skeletal muscle atrophy, Patent ductus arteriosus, Unsteady... |
ORPHA:17 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Pate... |
OMIM:605275 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Renal insufficiency, Proteinuria, Portal hypertension, Edema, Pericar... |
OMIM:619487 |
| Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Arthrogrypo... |
OMIM:607598 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... |
OMIM:619747 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Limb ataxia, Hyp... |
OMIM:619051 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Spastic... |
OMIM:619170 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Cardiomyopathy, Ventricular septal defect |
ORPHA:1909 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Furrowed tongue, Absent ... |
OMIM:148210 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Coarctation of aorta,... |
OMIM:617602 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... |
OMIM:109150 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Deep philtrum, Ve... |
OMIM:300855 |
| Alg9-Cdg |
|
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Lower limb spastic... |
ORPHA:79328 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hyperalaninemia, Hepatomegaly, Acute hyperammonemia, Myelodysplasia, Hyperglutaminemia, Hyperammo... |
ORPHA:927 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Lymphedema, Hamartomatous polyposis, Int... |
ORPHA:109 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... |
OMIM:618652 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Predominantly lower limb lymphedema, Camptodactyly of finger, Congestive heart failure, Gonadal t... |
ORPHA:261519 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Cardiomegaly, Abnormal left ventricular function, Aminoaciduria, Pro... |
OMIM:619991 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Sudden unexpected death in e... |
OMIM:619189 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
| Combined Oxidative Phosphorylation Deficiency 22 |
|
Hyperalaninemia, Congestive heart failure, Failure to thrive, Pulmonary arterial hypertension |
OMIM:616045 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Exercise intolerance, Slender build, Elevated circulating creatine kinase concentration, Myopathy... |
OMIM:615156 |
| Atrophoderma Vermiculata |
|
Heart block, Hyperkeratotic papule, Neurofibroma, Follicular hyperkeratosis |
ORPHA:79100 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Dextrocardia, Cryptorchidism, Coarctation of aorta, Atrioventricular can... |
OMIM:618929 |
| Huntington Disease |
|
Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Familial Colorectal Cancer Type X |
|
Abnormal circulating creatine concentration, Flexion contracture, Neoplasm of the breast, Stomach... |
ORPHA:440437 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Fatigue, Ataxia, Limb-girdle muscle weakness, Spastic paraplegia, Cardiomyopathy, Myopathy |
ORPHA:1215 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... |
OMIM:601005 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Fa... |
OMIM:612946 |
| Fanconi Anemia, Complementation Group B |
|
Death in infancy, Hypergonadotropic hypogonadism, Ventricular septal defect, Patent ductus arteri... |
OMIM:300514 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Alexander Disease |
|
Fatigue, Death in infancy, Ataxia, Babinski sign, Dysmetria, Spasticity, Death in adolescence, De... |
OMIM:203450 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... |
OMIM:617854 |
| Simple Cryoglobulinemia |
|
Myocardial infarction, Abnormal lung morphology, Nephritis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, H... |
OMIM:269860 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Neonatal death, Atrial septal defect, Atrioventric... |
OMIM:265380 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Hand tremor, G... |
OMIM:157640 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Gastrointestinal dysmotility, Lethargy |
OMIM:500007 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Squamous cell carcinoma, Anteriorly placed anus, Premature graying of hair, High palate, Sparse h... |
OMIM:268400 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Urinary incontinence, Bowel incontinence, Rigidity, Babinski sign, Hand t... |
ORPHA:289560 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Sengers Syndrome |
|
Fatigue, Exercise intolerance, Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac de... |
OMIM:212350 |
| Apparent Mineralocorticoid Excess |
|
Hypertension, Hypokalemia, Stroke, Left ventricular hypertrophy, Failure to thrive, Decreased cir... |
ORPHA:320 |
| Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... |
OMIM:619477 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Fatigue, Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shu... |
OMIM:618049 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Vocal cord paralysis, At... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Vocal cord paralysis, At... |
ORPHA:98853 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Cardiomegaly, Pericardial effusion, Spasticity, Hyperammonemia, Bradyc... |
OMIM:614702 |
| Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Methylmalonic Acidemia With Homocystinuria |
|
Fatigue, Lethargy, Failure to thrive, Gait disturbance |
ORPHA:26 |
| Carney Complex, Type 1 |
|
Cardiac myxoma, Pituitary adenoma, Palatine myxoma, Myxoid subcutaneous tumors, Schwannoma, Conge... |
OMIM:160980 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Arrhythmia |
ORPHA:85447 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Cleft palate, Weight loss, Aspiration pneumonia, Microglossia, Hamartoma |
ORPHA:141152 |
| Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Edema, Prominent U wave, Keto... |
ORPHA:466677 |
| Tremor, Hereditary Essential, 2 |
|
Fatigue, Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect |
OMIM:615731 |
| Fetal Minoxidil Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:1918 |
| Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
| Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia |
ORPHA:324588 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Neonatal death, Inability to walk, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:617184 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema, Macroglossia, Bradycardia, Lethargy, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Small for gestational age, Ventricular septal defect, Coarctation of aorta,... |
OMIM:614114 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Fatigue, Exercise intolerance, Abnormal heart morphology, Exercise-induced myalgia, Myalgia, Palp... |
OMIM:618250 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Exaggerated startle response, Ataxia, Urinary incontinence... |
OMIM:268800 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Decreased muscle mass, Small intestinal dysmotility, H... |
ORPHA:298 |
| Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Left ventri... |
ORPHA:251274 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Myopathy |
ORPHA:91130 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Failure to thrive, Coarctation of aorta |
OMIM:616069 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
| Gm1 Gangliosidosis |
|
Hydrops fetalis, Gastroesophageal reflux, Aspiration pneumonia, Generalized hirsutism, Thickened ... |
ORPHA:354 |
| Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Hydrops fetalis, Colitis, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma,... |
ORPHA:3261 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Dehy... |
OMIM:251000 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, High palate,... |
OMIM:604377 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra... |
ORPHA:13 |
| Manganese Poisoning |
|
Decreased female libido, Postural tremor, Akinesia, Cogwheel rigidity, Bradykinesia, Impotence, H... |
ORPHA:306682 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Atrioventricular block, ... |
ORPHA:98855 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
| Alg3-Cdg |
|
Spastic tetraparesis, Coarctation of the descending aortic arch, Macroglossia, Cardiomyopathy, Hy... |
ORPHA:79321 |
| Isolated Atp Synthase Deficiency |
|
Hyperalaninemia, Hepatomegaly, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, 3-Methyl... |
ORPHA:254913 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux, Abnormal ... |
ORPHA:183 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Muscular vent... |
OMIM:619371 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypertonia, Abnormal ... |
ORPHA:1166 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Fatigue, Exercise intolerance, Tachycardia, Skeletal muscle atrophy, Elevated circulating creatin... |
ORPHA:368 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, ... |
ORPHA:67 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Squamous cell carcinoma, Palmoplantar keratoderma, Nail dy... |
OMIM:618373 |
| Spinocerebellar Ataxia 10 |
|
Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ata... |
OMIM:603516 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
| Orofaciodigital Syndrome Type 6 |
|
Failure to thrive, Hamartoma of tongue, Highly arched eyebrow, Bilateral cryptorchidism, Cleft pa... |
ORPHA:2754 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Myotonia, Elevated circulating creatine kinase concentration, Vocal cord paralysis, At... |
ORPHA:98863 |
| Trichothiodystrophy |
|
Sparse scalp hair, Brittle hair, Ventricular septal defect, Multiple joint contractures, Carious ... |
ORPHA:33364 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... |
OMIM:616866 |
| Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fe... |
OMIM:232500 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Poor fine motor coordination, Patent ductus arteriosus, Ventricular septal ... |
OMIM:618330 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Short lingual frenulum, Hypogonadotropic hypogonadism, Bilateral cryptorchi... |
ORPHA:2326 |
| Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Small for gestational age, Edema, Abnormal heart morphology, Bradycardia, Hy... |
ORPHA:391673 |
| Ogden Syndrome |
|
Everted upper lip vermilion, Torticollis, Ventricular septal defect, High, narrow palate, Pulmona... |
ORPHA:276432 |
| High Altitude Pulmonary Edema |
|
Tachycardia, Pulmonary edema |
ORPHA:330012 |
| American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Congestive heart fail... |
ORPHA:3386 |
| Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Congestive heart failure, Atrioventricular blo... |
ORPHA:98909 |
| 19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Supernum... |
ORPHA:217346 |
| Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Weight loss, Neoplasm of the central nervous system, Hypertension,... |
ORPHA:69077 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Dehydration, Cardiomyopathy, Lethargy |
ORPHA:27 |
| X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... |
ORPHA:53351 |
| Grange Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
| Mcdonough Syndrome |
|
Cachexia, Open bite, Cryptorchidism, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculat... |
ORPHA:2471 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
| Propionic Acidemia |
|
Hepatomegaly, Increased level of hippuric acid in urine, Cerebellar hemorrhage, Hyperglycinuria, ... |
OMIM:606054 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Small for gestational age, Hyperammonemia, Elevated circulating suberic... |
OMIM:615160 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure |
OMIM:301021 |
| Babesiosis |
|
Hepatomegaly, Renal insufficiency, Myocardial infarction, Splenomegaly, Congestive heart failure,... |
ORPHA:108 |
| Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Malabsorption, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia |
OMIM:238750 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Hypoplastic left atri... |
OMIM:615524 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Urinary incontinence, Bowel incontinence, Tremor, Rigidity, Head titubati... |
OMIM:618877 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... |
ORPHA:276621 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Unilateral renal agenesis, Intraventricular hemorrhage, Cleft palate, Abnormal... |
ORPHA:79284 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Failure to thrive, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Bicuspid aortic valve, Mitral atresia, Highly arched eyebrow, Small for gestational ag... |
OMIM:220111 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Hyaline membranes, Small for gestational age |
OMIM:617065 |
| Spinocerebellar Ataxia 48 |
|
Depression, Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Villous atrophy, Congestive heart failure, Esophageal carc... |
ORPHA:391487 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Tuberculosis |
|
Fatigue, Weight loss |
ORPHA:3389 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Small for gestational age, Cryptorchidism, Abnormal heart morphology, Congenital ... |
ORPHA:352490 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Opisthotonus, Severe failure to thriv... |
ORPHA:3304 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Ovarian neoplasm, Fine hai... |
ORPHA:2221 |
| Autosomal Dominant Spastic Paraplegia Type 37 |
|
Fatigue, Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower ... |
ORPHA:171612 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hyp... |
OMIM:617506 |
| Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cryptorchidism, ... |
OMIM:264480 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Ventricular septal defect, Wide mouth, Hyperkeratosis, Pulmonic stenosis, Atrial sept... |
OMIM:615279 |
| Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Bowel incontinence, Cryptorchidism, Pulmonary a... |
ORPHA:261494 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Ataxia, Epistaxis, Cardiac arrest, Abdominal ... |
ORPHA:99745 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Flexion contracture, Low anterior hairline, Coarse hair, Hypoalbuminemia, Atrial septa... |
OMIM:617303 |
| Hellp Syndrome |
|
Pulmonary edema, Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobinuria, Hypoten... |
ORPHA:244242 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
| Kabuki Syndrome 2 |
|
Coarctation of aorta, Pulmonic stenosis, Decreased body weight, Atrial septal defect, Atrioventri... |
OMIM:300867 |
| Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... |
ORPHA:90291 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fatigue, Abnormal circulating C-peptide concentration, Hand tremor |
ORPHA:79299 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Oral mucosal blisters, Palmoplantar hyperkeratosis, Hyperkeratosis, Failure to thrive, Dystrophic... |
ORPHA:89838 |
| Epidermodysplasia Verruciformis |
|
Telangiectasia of the skin, Verrucae, Squamous cell carcinoma |
ORPHA:302 |
| Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Involuntary movements, Writer's cramp, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Urac... |
OMIM:222748 |
| Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Albinism, High palate, Atrial septal defect, ... |
OMIM:242840 |
| Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Bilateral cryptorchidism, Coarctation of aorta, Hemiparesis, Atr... |
ORPHA:2409 |
| Macrophagic Myofasciitis |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:592 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Cryptorchidism, Neonatal death, Spasti... |
OMIM:613730 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... |
OMIM:270100 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Small for gestational age, Proteinuria, Edema, Microscopic hematuria, Cryptorchidis... |
ORPHA:97362 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Broad-based gait, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to ... |
ORPHA:477817 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hyp... |
ORPHA:99828 |
| Fg Syndrome Type 1 |
|
Broad-based gait, Progressive flexion contractures, Cryptorchidism, Mitral valve prolapse, Coarct... |
ORPHA:93932 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Cardiomegaly |
ORPHA:88643 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Congestive heart failure, Increased circulating ferritin concentration, Esophageal ... |
ORPHA:139507 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Dehydration, Lethargy, Failure to thrive |
ORPHA:28 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Difficul... |
OMIM:618748 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
| Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Patent foramen ovale, Telangiectases of the cheek... |
ORPHA:576 |
| Lynch Syndrome |
|
Flexion contracture, Intestinal polyposis, Pancreatic adenocarcinoma, Depression, Neoplasm of the... |
ORPHA:144 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cachexia, Abnormal soft palate morphology, S... |
ORPHA:884 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated creatine kinase after exercise, Dicarboxylic aciduria, Sudden cardiac death, Elevated ci... |
ORPHA:99901 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Abnormal dental enamel morphology, Premature loss of primary teeth, Camptodac... |
ORPHA:2908 |
| Barth Syndrome |
|
Fatigue, Exercise intolerance, Increased left ventricular end-diastolic volume, Tricuspid regurgi... |
OMIM:302060 |
| Aredyld Syndrome |
|
Smooth philtrum, Hepatomegaly, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnorma... |
ORPHA:1133 |
| Cap Myopathy |
|
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... |
ORPHA:171881 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Fatigue, Increased serum pyruvate, Dysmetria, Tip-toe gait, Dystonia, Spasticity |
OMIM:251950 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Fatigue, Pain insensitivity, Telangiectasia of the skin, Abnormal pe... |
ORPHA:679 |
| Bazex Syndrome |
|
Parakeratosis, Edema, Yellow nails, Lip hyperpigmentation, Hyperkeratosis, Neoplasm, Palmoplantar... |
ORPHA:166113 |
| Pituitary Gigantism |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Amenorrhea |
ORPHA:99725 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Abnormal hair morphology, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratos... |
ORPHA:317 |
| Central Diabetes Insipidus |
|
Hyponatremia, Dehydration, Depression, Weight loss, Lethargy, Failure to thrive, Nocturia |
ORPHA:178029 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Urinary incontinence, Chorea, Babinski sign, Titubation, Gait ataxi... |
ORPHA:225147 |
| Mosaic Trisomy 16 |
|
Small for gestational age, Ventricular septal defect, Patent ductus arteriosus, Abnormal heart mo... |
ORPHA:1708 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Congestive heart failure, Abnormality of skelet... |
ORPHA:2348 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... |
OMIM:600460 |
| Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Lobulated tongue, Coarse hair, High palate, Sparse hair, Alopecia, Multicystic kidn... |
ORPHA:2750 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia |
OMIM:606703 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Slurre... |
OMIM:256550 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Azoospermia, Interrupted inf... |
OMIM:618300 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Splenomegaly, Congestive heart... |
ORPHA:79083 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ... |
ORPHA:767 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
| Early Myoclonic Encephalopathy |
|
Recurrent respiratory infections, Lethargy, Dysphagia |
ORPHA:1935 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Joint contracture of the han... |
OMIM:179613 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Elevated creatine kinase after exercise, Dicarboxylic aciduria, Elevated circulatin... |
ORPHA:159 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Cryptorchidism, Abdominal obesity, Mitral regurgitation, Aortic root a... |
OMIM:301039 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Myotonia, Elevated circulating creatine... |
ORPHA:682 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Smooth philtrum, Thin upper lip vermilion, Renal insufficiency, Failure to thrive in infancy, Hyp... |
OMIM:611209 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign, Hyperglycinemia |
OMIM:619063 |
| Mmep Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:3434 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Dysphagia, Neoplasm of the tongue, ... |
ORPHA:100026 |
| Alstrom Syndrome |
|
Hepatomegaly, Alopecia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Renal insu... |
OMIM:203800 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Abnormal hair morphology, Thickened skin, Flexion contracture, Weight loss, Premature g... |
ORPHA:1979 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Recurrent upper res... |
OMIM:210900 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Polyuria, Nephrolithiasis, Dehydration, Weight loss, Nephrocalcinosis, Hypercalciu... |
OMIM:143880 |
| Epiphyseal Dysplasia, Multiple, 2 |
|
Fatigue, Waddling gait, Broad-based gait, Knee pain, Foot pain |
OMIM:600204 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Paroxysmal dystonia, Weakness due to upper motor neuron dysfunction, Urina... |
ORPHA:466722 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... |
OMIM:300887 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Fatigue, Ataxia, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentrati... |
OMIM:607426 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Handgrip myotonia, Myotonia, Writer's cramp, Elevated circulating creatine k... |
ORPHA:324442 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Thin upper lip vermilion, Small for gestational age, Dextro... |
OMIM:277380 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Ventricular septal defect, Bicuspid aortic valve, Unsteady gait, Gait ataxia, D... |
OMIM:616652 |
| Tangier Disease |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Abdominal pain, Impai... |
ORPHA:31150 |
| Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Spasticity, Hemiparesis, Coarctation of aorta, Hypertonia, Abno... |
ORPHA:2396 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Abnormal circulating ceruloplasmin concentra... |
OMIM:620306 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
| Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Muscular dy... |
OMIM:253601 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Complete atrioventricu... |
OMIM:617925 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia |
ORPHA:36387 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Adrenal pheochromocytoma, Positive regitine blocking test, Extraadrena... |
ORPHA:29072 |
| Xeroderma Pigmentosum, Variant Type |
|
Cutaneous telangiectasia, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... |
ORPHA:915 |
| Pleural Mesothelioma |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Abnormal cardiovascular syste... |
ORPHA:50251 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Polyhydramnios, Flexion contracture, Gingival overgrowth, Narro... |
OMIM:618186 |
| Giant Cell Arteritis |
|
Fatigue, Pericarditis, Gangrene, Ataxia, Epistaxis, Sudden cardiac death, Abdominal pain, Vasculi... |
ORPHA:397 |
| Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Thickened aortic valve cusp, Diastema, Open bite, Nephrolithiasis, Dermatan... |
OMIM:619698 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Uraciluria, Failure to thrive |
OMIM:274270 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
| Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle aplasia, Dental malocclusi... |
ORPHA:137888 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... |
ORPHA:2209 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrops fetal... |
ORPHA:163596 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Atrial septal defect, Trunc... |
ORPHA:401935 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Ventricular septal defect, Clonus, Ataxia, Elev... |
OMIM:615673 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Speech apraxia, Bundle branch block, Myotonia, Facial hypotonia, First degree atrioventricular bl... |
ORPHA:589821 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Xerostomia, Hypoalbuminemia, Abnormal salivary gla... |
ORPHA:85443 |
| Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Pulmonary arterial hypertension, Dysphagia, Camptodactyly |
OMIM:619751 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Idiopathic Pulmonary Hemosiderosis |
|
Fatigue, Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegal... |
ORPHA:99931 |
| Idiopathic Achalasia |
|
Bronchitis, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recurren... |
ORPHA:930 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
| Dyskeratosis Congenita, X-Linked |
|
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Premature graying of hair, Premat... |
OMIM:305000 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T... |
OMIM:137440 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase concentration, ... |
OMIM:310200 |
| Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Aganglionic megacolon, Dental crowding, High, narrow palate, Obesity, ... |
OMIM:209900 |
| Pontiac Fever |
|
Fatigue, Myalgia |
ORPHA:99748 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Edema, Pulmonary edema |
OMIM:267450 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular r... |
OMIM:601927 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Visceral angiomatosis, Congestive heart failure, Ovarian neoplasm, Neoplasm of the breast, Hamart... |
ORPHA:137608 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre... |
ORPHA:268 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Poor fine motor coordination, Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Monosomy 18Q |
|
Astrocytoma, Absence of the pulmonary valve, Left-to-right shunt, Secundum atrial septal defect, ... |
ORPHA:1600 |
| Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Gastroesophageal reflux, Dysphagia, Arthrogryposis multiplex con... |
ORPHA:85278 |
| Classic Mycosis Fungoides |
|
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Edema, Splenomegaly, Lymphoma, Hyperkeratosis,... |
ORPHA:2584 |
| Wolman Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Esophageal varix, Steatorrhea, Ascites |
ORPHA:75233 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Hype... |
OMIM:615508 |
| Noonan Syndrome 7 |
|
Curly hair, Large for gestational age, Lentigo maligna melanoma, Low posterior hairline, Thick ve... |
OMIM:613706 |
| Orofaciodigital Syndrome Vi |
|
Failure to thrive, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, I... |
OMIM:277170 |
| Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity |
OMIM:618878 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t... |
ORPHA:684 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Accessory oral frenulum, Hamartoma of tongue, Polyhydramnios, Hy... |
OMIM:616546 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Hypopigmentation of hair, Renal insufficiency, Epistaxis, Abnormal d... |
ORPHA:79430 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Cardiomyopathy, ... |
OMIM:614922 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... |
OMIM:613870 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:261120 |
| Colchicine Poisoning |
|
Hyponatremia, Alopecia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, ... |
ORPHA:31824 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Fatigue, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysd... |
OMIM:614831 |
| Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Rhabdomyolysis, N... |
ORPHA:449285 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Miscarriage, Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet r... |
OMIM:620294 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Fatigue, Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetraparesis, Tremo... |
ORPHA:352649 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
| Glycine Encephalopathy 1 |
|
Lethargy, Hyperglycinuria, Hyperglycinemia |
OMIM:605899 |
| Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Ataxia, Urinary incontinence, Rigidity, Unsteady gait, Limb ataxia,... |
ORPHA:98760 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Lymphedema, Telangiectasia, Hyperkeratosis, Generalized... |
ORPHA:79279 |
| Schimke Immuno-Osseous Dysplasia |
|
Microdontia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Abnorma... |
ORPHA:1830 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Congest... |
ORPHA:52430 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Micropenis, Polycysti... |
OMIM:613091 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Epistaxis, Malabsorption, Periorb... |
ORPHA:33226 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of hair texture, Abnormality of the dentiti... |
ORPHA:2752 |
| Chromosome 18Q Deletion Syndrome |
|
U-Shaped upper lip vermilion, Thin upper lip vermilion, Recurrent respiratory infections, Absence... |
OMIM:601808 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... |
OMIM:208000 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Small scrotum, Small for gestational age, Hypospadias, Edema, Polyhydra... |
OMIM:607143 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Insulinoma |
|
Increased body weight, Neoplasm of the adrenal gland, Zollinger-Ellison syndrome, Palpitations, P... |
ORPHA:97279 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Tachycardia, Increased body weight |
ORPHA:276608 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Hepatomegaly, Intestinal pseudo-obstruction, Abnormal heart valve morp... |
OMIM:309900 |
| Myotonia Fluctuans |
|
Fatigue, Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myot... |
ORPHA:99734 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... |
ORPHA:411602 |
| Familial Thyroid Dyshormonogenesis |
|
Facial edema, Macroglossia, Bradycardia, Lethargy, Abnormal circulating thyroglobulin level, Neon... |
ORPHA:95716 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Failure to thrive, Tricuspid regurgitation, Ventricular septal defect, Slender bu... |
ORPHA:466791 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Cardiomegaly, Palmoplantar keratoderma, Follicular hyperkeratosis, Cong... |
OMIM:613576 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Thin upper lip vermilion, Tricuspid regurgitation, Atelectasis, Bronchiectasis, Rec... |
OMIM:620233 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Elbow contracture, Narrow palate, Gastroesophageal reflux, Lethargy, Failure to thrive |
OMIM:611523 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ... |
ORPHA:206549 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Death in infancy, Cerebral palsy, Urinary incontinence, Pericardial effu... |
OMIM:620070 |
| Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... |
ORPHA:100080 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Acut... |
ORPHA:281090 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase con... |
ORPHA:26791 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Dilated cardiomyopathy, Hyperglycinemia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:614299 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Developmental And Epileptic Encephalopathy 90 |
|
Abdominal pain, Babinski sign, Ankle clonus, Atrial septal defect, Limb hypertonia |
OMIM:301058 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:618974 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosis, Nail dystrophy, Ichthyosis |
ORPHA:79503 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Conges... |
OMIM:615895 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
| Chilblain Lupus |
|
Raynaud phenomenon, Hyperkeratosis, Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormal oral mucosa morphology, Malabsorption, Chronic kidney disease... |
ORPHA:85445 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Lethargy |
OMIM:618224 |
| Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Achlorhydria, Abnormal blood ion conce... |
ORPHA:173 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Pneumonia, Elevated circulating C-reactive protein concentration, Pneumothorax, Acute infe... |
ORPHA:36238 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Cryptorchidism, Renal hypoplasia, Cl... |
OMIM:616300 |
| Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Small for gestational age, Spastic tetraparesis, Myoclonus, Atrial sep... |
OMIM:614261 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Lethargy |
OMIM:613710 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Chronic fatigue, Thoracic aortic aneurysm, Va... |
OMIM:619656 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism |
OMIM:616816 |
| Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Urinary incontinence, Rigidity, Babinski sign, Bradykinesia, Hypertensio... |
ORPHA:75567 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated ... |
OMIM:617478 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
| Cirrhosis, Familial |
|
Esophageal varix, Increased level of L-fucose in urine, Hypertension, Increased level of propylen... |
OMIM:215600 |
| Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Hematological neoplasm, Cachexia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Fatigue, Lethargy |
OMIM:618573 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Thin vermilion border, Hypocalcemia, Long philtrum |
ORPHA:1438 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Exercise intolerance, Increas... |
OMIM:232300 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia, Abnormal renal cor... |
OMIM:617397 |
| Chromosome 5Q12 Deletion Syndrome |
|
Ventricular septal defect, Increased nuchal translucency, Wide mouth, Macroglossia, Short philtru... |
OMIM:615668 |
| Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Xerostomia, Gastroe... |
ORPHA:779 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Fatigue, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradyki... |
OMIM:615530 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Parkinsonism, Involuntary... |
ORPHA:48818 |
| Capillary Malformation-Arteriovenous Malformation |
|
Neurogenic bladder, Epistaxis, Nonimmune hydrops fetalis, Facial capillary hemangioma, Abnormalit... |
ORPHA:137667 |
| Legionnaires Disease |
|
Fatigue, Hyponatremia, Pericarditis, Ataxia, Abdominal pain, Myocarditis, Splenomegaly, Endocardi... |
ORPHA:549 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Cachexia, Renal salt wasting, Esophagea... |
ORPHA:275761 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Broad-based gait, Ventricular septal defect, Spastic gait |
OMIM:617616 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Thin upper lip vermilion, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachex... |
OMIM:616801 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Aspiration pneumonia, Nephropathy, Achalasia, Abnormality of the female ... |
ORPHA:1018 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Skeletal muscle atrophy, Neurogenic bladder, Elevated circulating creatine kinase c... |
OMIM:608779 |
| Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus arteriosus, Abnormal heart ... |
ORPHA:2847 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Parkinsonism, Bradykinesia, Falls, Shuffling gait, Short stepped shuffling gait |
ORPHA:412066 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Nail dystrophy, Oral leukoplakia, Squamous cell carcinoma of the tongue |
OMIM:613988 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Spastic diplegia... |
ORPHA:290 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Malabsorption, Carious teeth, Congestive heart f... |
ORPHA:220393 |
| Severe Canavan Disease |
|
Lethargy, Gastroesophageal reflux, Oral-pharyngeal dysphagia |
ORPHA:314911 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, High palate, Atrial septal defect, Lethargy, Hepatomeg... |
OMIM:614866 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, I... |
ORPHA:71212 |
| Myhre Syndrome |
|
Ventricular septal defect, Small for gestational age, Ataxia, Pericardial effusion, Cryptorchidis... |
OMIM:139210 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Cerebral palsy, Ventricular septal defect, Ataxia, Limb joint contracture, Inability to walk, Cry... |
ORPHA:505237 |
| Distal Deletion 15Q |
|
Bicuspid aortic valve, Mitral atresia, Small for gestational age, Congenital diaphragmatic hernia... |
ORPHA:1596 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Edema, Abnormal gastric mucosa... |
ORPHA:263665 |
| Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Hypocholesterolemia, Atrial septal defect, Failu... |
OMIM:244450 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Congestive heart failure, Bipolar affective disorder, Obesity |
ORPHA:3077 |
| Spinocerebellar Ataxia Type 13 |
|
Torticollis, Urinary incontinence, Impaired distal vibration sensation, Limb ataxia, Titubation, ... |
ORPHA:98768 |
| Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
| Majeed Syndrome |
|
Hepatomegaly, Proteinuria, Cachexia, Malabsorption, Edema, Splenomegaly, Microscopic hematuria, F... |
ORPHA:77297 |
| Atransferrinemia |
|
Congestive heart failure, Atransferrinemia |
OMIM:209300 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... |
OMIM:613834 |
| Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinase concentration, Polyhydram... |
ORPHA:800 |
| Proteus Syndrome |
|
Splenomegaly, Multiple lipomas, Hyperkeratosis, Lipoma, Hemangioma, Open mouth |
OMIM:176920 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Fatigue, Angina pectoris, Telangi... |
ORPHA:93672 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Hyperammonemia, Lethargy |
OMIM:616483 |
| Congenital Disorder Of Deglycosylation 2 |
|
Highly arched eyebrow, Hamartoma of tongue, Macroglossia, High palate, Hypothalamic hamartoma, Dy... |
OMIM:619775 |
| Congenital Erythropoietic Porphyria |
|
Erythrodontia, Nonimmune hydrops fetalis, Edema, Increased stool urobilinogen concentration, Sple... |
ORPHA:79277 |
| Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Aortopulmonary wi... |
ORPHA:97214 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
| Lipoid Proteinosis |
|
Recurrent respiratory infections, Abnormal oral mucosa morphology, Thickened skin, Abnormality of... |
ORPHA:530 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Facial palsy, Coarctation of aorta |
ORPHA:2780 |
| Transketolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosu... |
ORPHA:488618 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Hypoalbuminemia, Atrial septal defect, Patent foramen ovale, Tricuspid regur... |
ORPHA:505248 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Camptodactyly of finger, Cachexia, Abnormal hair pattern, Open bite, Synophr... |
ORPHA:85293 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Oral mucosal blisters, Abnormality of the dentition, Hyperkeratosis, Nail... |
ORPHA:79399 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Atrial septal defect |
ORPHA:52056 |
| Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
| Rett Syndrome |
|
Increased serum pyruvate, Skeletal muscle atrophy, Limb apraxia, Inability to walk, Hyperammonemi... |
ORPHA:778 |
| Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis |
OMIM:618624 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Chronic fatigue, Splenomegaly, Bone pain, Myoclonus, Hypocholesterolemia, Intention... |
OMIM:610539 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... |
ORPHA:1359 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
| Opitz Gbbb Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Pat... |
ORPHA:2745 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Arterial rupture, My... |
ORPHA:300179 |
| Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Abnormal heart valve morphology, Malabsorption, Congestive hear... |
ORPHA:579 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Abnormal coronary art... |
ORPHA:3427 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Elevate... |
OMIM:612953 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Ketonuria, Cardiac arrest, Edema, Dilated cardiomyopathy, Dehydration, Weight loss,... |
ORPHA:20 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
| Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
| Scrub Typhus |
|
Renal insufficiency, Splenomegaly, Myocarditis, Hypotension, Lethargy |
ORPHA:83317 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Fatigue, Scapular winging, Pain insensitivity, Ventricular septal defect, Tremor, Patent ductus a... |
OMIM:617061 |
| Meningioma |
|
Hypogonadotropic hypogonadism, Lower limb muscle weakness, Neoplasm of the anterior pituitary, Ce... |
ORPHA:2495 |
| Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Deep philtrum, Anorectal anomaly, Low anterior hairline, Neoplasm, B-cel... |
ORPHA:647 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Hepatomegaly, Myelodysplasia, Congestive heart failure, Splenomegaly, Ref... |
ORPHA:75564 |
| Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
| Aquagenic Palmoplantar Keratoderma |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Recurrent sinopulmonary infections, Edema |
ORPHA:498359 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age, Edema |
OMIM:610498 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
| Adiposis Dolorosa |
|
Fatigue, Arthralgia, Chronic pain, Obesity |
OMIM:103200 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
| Proximal Spinal Muscular Atrophy |
|
Fatigue, Skeletal muscle atrophy, Multiple joint contractures, Inability to walk, Quadriceps musc... |
ORPHA:70 |
| Phace Syndrome |
|
Cerebral arteriovenous malformation, Hemiplegia/hemiparesis, Abnormal heart morphology, Coarctati... |
ORPHA:42775 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Spinal Arteriovenous Metameric Syndrome |
|
Cutaneous angiolipomas, Urinary bladder sphincter dysfunction, Visceral angiomatosis, Congestive ... |
ORPHA:53721 |
| Toriello-Carey Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac ... |
ORPHA:3338 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Unilateral alveolar cleft of maxi... |
ORPHA:2751 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Fatigue, Weight loss |
ORPHA:86893 |
| Schnitzler Syndrome |
|
Fatigue, Hepatomegaly, Splenomegaly, Vasculitis, Bone pain, Arthralgia, Myalgia |
ORPHA:37748 |
| Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... |
ORPHA:100082 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... |
OMIM:619825 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Celiac disease, Pituitary adenoma, Hyperkal... |
ORPHA:199299 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Death in childhood, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure to thrive... |
OMIM:614582 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Lymphoproliferative disorder, Splenomegaly, Congestive heart... |
ORPHA:90033 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Lymphedema, High palate, Sparse hair, Atrial septal defect, Dystrophic fingernails,... |
ORPHA:1340 |
| Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexio... |
ORPHA:1692 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem... |
ORPHA:427 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Opisthotonus, Decreased b... |
OMIM:608013 |
| Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Anorectal anomaly, Tracheoesophageal fistula, Gingiva... |
ORPHA:1839 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Fatigue, Cryptorchidism, Increased body weight, Hand tremor, Gait disturbance |
ORPHA:589905 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Polyhydramn... |
ORPHA:3047 |
| Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Abnormality of the dentition, Gastroesophageal reflux, Abnorma... |
OMIM:312750 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma, Narrow mouth, Flexion contracture, Cheilitis, Abnormal ora... |
ORPHA:357154 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
| Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Thickene... |
ORPHA:324581 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right... |
ORPHA:97287 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Pulmonary embolism, Hydrops fetalis, Dehydration, Hyperhomocystinemia, Letharg... |
ORPHA:79282 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
| Analbuminemia |
|
Edema, Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, H... |
OMIM:616000 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Peau d'orange, Ventricular septal defect, Elevated circulating creatine kinase conc... |
OMIM:614576 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Long philtrum, Hyperalaninemia, Lethargy |
OMIM:312170 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Patent ductus arteriosus, Weight loss, Atrial septal defect, Hypertrophic cardiomyo... |
ORPHA:1842 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Small for gestational age, Cryptorchidism, Patent ductus arteriosus, S... |
OMIM:620024 |
| Nephroblastoma |
|
Weight loss, Neoplasm of the lung, Hypertension, Neoplasm of the liver, Neoplasm, Hematuria, Neph... |
ORPHA:654 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Adult-Onset Still Disease |
|
Fatigue, Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Abdom... |
ORPHA:829 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Fontaine Progeroid Syndrome |
|
Small scrotum, Bicuspid aortic valve, High, narrow palate, Synophrys, Hypoplasia of the abdominal... |
OMIM:612289 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Vascular ring, Mitr... |
OMIM:603387 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Familial Atrial Fibrillation |
|
Exercise intolerance, Fatigue, Atrial fibrillation, Myocardial infarction, Syncope, Chest pain, P... |
ORPHA:334 |
| Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Elevate... |
OMIM:620300 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Bowel incontinence, Rigidity, Dysesthesia, Dysmetria, Gait ataxia, Bradykin... |
ORPHA:93256 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
| Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Hepatomegaly, Failure to thrive, Lethargy, Dysphagia |
OMIM:618226 |
| Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Cardiomegaly, Poor coordination, Spastic diplegia, Hyperammonemia, Choreoat... |
ORPHA:391428 |
| Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Chronic fatigue, Camptodactyly of finger, Arterial dis... |
ORPHA:284984 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
| Al-Raqad Syndrome |
|
Atrial septal defect, Inability to walk, Gait ataxia |
OMIM:616459 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Patent ductus arter... |
OMIM:620327 |
| King-Denborough Syndrome |
|
Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:619542 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... |
OMIM:618454 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Edema, Right ventricul... |
ORPHA:100078 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Sudden death, Atrial septal defect, Abdominal ... |
OMIM:613795 |
| Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Cardiac arrest, Congestive heart... |
OMIM:212720 |
| Adams-Oliver Syndrome 5 |
|
Splenomegaly, Right atrial enlargement, Esophageal varix, Cavernous hemangioma, Pulmonic stenosis... |
OMIM:616028 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age, Abnormal circulating fatty-aci... |
ORPHA:263455 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Decreased muscle mass, Dental crowding, Failure to thrive... |
ORPHA:813 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Tetralogy of Fallot, Aplasia... |
ORPHA:2970 |
| Perry Syndrome |
|
Depression, Apathy, Hypotension, Weight loss |
ORPHA:178509 |
| Megalencephaly |
|
Atrial septal defect, Truncal obesity, Macroorchidism |
ORPHA:2477 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... |
OMIM:126320 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Cerebral palsy, Ventricular septal defect, Epistaxis, Spastic paraplegia... |
ORPHA:369929 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Atrial septal defect, Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
| Bone Marrow Failure Syndrome 6 |
|
Recurrent sinusitis, Squamous cell carcinoma of the tongue |
OMIM:618849 |
| Serkal Syndrome |
|
Abnormal penis morphology, Ventricular septal defect, Hypospadias, Congenital diaphragmatic herni... |
ORPHA:139466 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Failure to thrive, Tetralogy of Fallot, Aminoaciduria |
OMIM:250620 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Inability to walk, Cryptorchidism, Flexion contracture, Spastic tetrap... |
OMIM:617452 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopa... |
OMIM:611126 |
| Spontaneous Periodic Hypothermia |
|
Fatigue, Ataxia, Tremor, Gait disturbance, Arrhythmia |
ORPHA:29822 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... |
ORPHA:486815 |
| Hardikar Syndrome |
|
Hepatomegaly, Ventricular septal defect, Portal hypertension, Abdominal pain, Hematemesis, Spleno... |
OMIM:301068 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dyst... |
OMIM:212360 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Chorea, Hypertonia, ... |
ORPHA:2388 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal circulating histidine concentration |
ORPHA:51208 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... |
OMIM:236270 |
| Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
| Autoinflammation With Infantile Enterocolitis |
|
Fatigue, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Sple... |
OMIM:616050 |
| Laryngeal Neuroendocrine Tumor |
|
Neoplasm of the larynx, Oral-pharyngeal dysphagia, Weight loss, Elevated carcinoembryonic antigen... |
ORPHA:100083 |
| Septopreoptic Holoprosencephaly |
|
Coarctation of aorta |
ORPHA:280195 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short philtrum, Sparse hair, Paten... |
OMIM:619127 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Conical tooth, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair, Mal... |
OMIM:618625 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Broad-based gait, Small for gestational age, Failure to thrive in infancy, Poor coordination, Abn... |
OMIM:618891 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hepatomegaly, Parakeratosis, Heart block, Splenomegaly, Dilated cardiomyop... |
ORPHA:398124 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Hyperglycinuria, L... |
OMIM:605711 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Abnormal pericardium morphology, Pneumonia, Abnormal stomach morphology, Abnormal... |
ORPHA:2357 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Fatigue, Hepatomegaly, Exercise intolerance, Skeletal muscle atrophy, Hypertriglyceridemia, Dysme... |
ORPHA:264580 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Ventricular septal defect, Small for gestational age, Conjugated hyperbilirubin... |
OMIM:208085 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Atrial septal defect, Failure to thrive, Pulmonic stenosis |
OMIM:619239 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Weakness of facial musculat... |
OMIM:201470 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Hypertension, Ascites, Hypoalbuminemia, Premature los... |
OMIM:610965 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, ... |
ORPHA:79474 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Unste... |
ORPHA:329224 |
| Lambert Syndrome |
|
Ventricular septal defect, Failure to thrive in infancy |
ORPHA:1296 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hypospadias, ... |
OMIM:616897 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Spastic tetraparesis |
OMIM:618506 |
| Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
| Mullegama-Klein-Martinez Syndrome |
|
Facial palsy, Congenital diaphragmatic hernia, Unsteady gait, Coarctation of aorta, Hypoplastic l... |
OMIM:301022 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Schwannoma, Odynophagia, Jaw claudication, Weight loss, Depression, Ne... |
ORPHA:221098 |
| Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Hypomimic face, Myo... |
ORPHA:171695 |
| Classic Hodgkin Lymphoma |
|
Fatigue, Hepatomegaly, Ataxia, Splenomegaly, Bone pain, Weight loss, Chest pain |
ORPHA:391 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increased body weigh... |
ORPHA:398069 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
| Filippi Syndrome |
|
Cryptorchidism, Dystonia, Ventricular septal defect, Decreased body weight |
OMIM:272440 |
| Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Increased serum beta-hexosaminidase, Cardiomegaly, Sparse hair, Progressive alveola... |
OMIM:252500 |
| Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Fatigue, Parkinsonism, Urinary incontinence, Bowel incontinence, Rigidity, Oculog... |
ORPHA:306674 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Hypertension, Lower limb hyper... |
ORPHA:2169 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:600268 |
| Arterial Tortuosity Syndrome |
|
Fatigue, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congesti... |
ORPHA:3342 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Ventricular septal defect, Dextrocardia, Cryptorchidism, Atrial septal defect |
OMIM:618067 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro... |
OMIM:607454 |
| Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... |
OMIM:616589 |
| Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
| Congenital Myopathy 9A |
|
Death in infancy, Akinesia, Cryptorchidism, Obesity, Tongue fasciculations, EMG: myopathic abnorm... |
OMIM:618822 |
| Woods Syndrome |
|
Lingual dystonia, Spastic paraplegia, Ventricular septal defect |
OMIM:615236 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia, Methylmalo... |
ORPHA:1933 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Hyperglutamatemia, Failure to thrive, Hyperammonemia |
OMIM:237310 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hematological neoplasm, Malabsorption, Hepatosp... |
ORPHA:98850 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect |
ORPHA:2516 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Intestinal polyposis, Transient ischemi... |
ORPHA:774 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
ORPHA:858 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventri... |
ORPHA:280365 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
| Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Thin upper lip vermilion, Hip contracture, Tented upper lip vermilion, Cachexia, Elbow flexion co... |
ORPHA:371364 |
| Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
| Robinow Syndrome |
|
Ventricular septal defect, Small for gestational age, Cryptorchidism, Abnormal heart morphology, ... |
ORPHA:97360 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... |
OMIM:115250 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Abnormal pyramidal sign, Arthralgia, Fatigue... |
ORPHA:117 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypertonia, Death in childho... |
OMIM:612938 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arte... |
OMIM:619909 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Facial hypotonia, Inability to walk, Difficulty walking, Atrial septal defect, Slender build |
OMIM:611087 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
| Esophageal Atresia |
|
Small for gestational age, Ventricular septal defect, Failure to thrive in infancy, Coarctation o... |
ORPHA:1199 |
| Tetrasomy 5P |
|
Pericallosal lipoma, Recurrent respiratory infections, Congestive heart failure, Aplasia/Hypoplas... |
ORPHA:3309 |
| Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Inability to walk, Situs inversus totalis |
OMIM:619881 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Hypertonia, Ventricular septal defect |
OMIM:620184 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Atrial septal defect, Cryptorchidism, Broad-based gait |
ORPHA:466926 |
| Delpire-Mcneill Syndrome |
|
Spasticity, Hypertonia, Ventricular septal defect |
OMIM:619083 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Coarctation of aorta |
ORPHA:268249 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Premature loss of permanent teeth, Clitoral hypertrophy, Laryngeal carcinoma, Hypertriglyceridemi... |
OMIM:610644 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormal palate morphology, Recurrent respiratory infections, Cachexia, Long philtrum |
ORPHA:1389 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
| Distal Deletion 12Q |
|
Ectopic kidney, High, narrow palate, Vesicoureteral reflux, Micropenis, Patent foramen ovale, Eso... |
ORPHA:96149 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Small for gestational age, Ventricular septal defect |
OMIM:314320 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect |
OMIM:263630 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Polyhydramnios, Cachexia, Downturned corners of mouth, Neph... |
ORPHA:2774 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Spastic tetraparesis, Elevated circulating alpha-fetoprotein concentration, Babinsk... |
OMIM:614924 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... |
OMIM:616867 |
| Diamond-Blackfan Anemia |
|
Radial artery aplasia, Small for gestational age, Ventricular septal defect, Abnormal heart morph... |
ORPHA:124 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventri... |
OMIM:300845 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Hypopigmentation of hair, Recurrent respiratory infections, Small scrot... |
ORPHA:398079 |
| Snijders Blok-Campeau Syndrome |
|
Speech apraxia, Broad-based gait, Unsteady gait, Perimembranous ventricular septal defect, Pulmon... |
OMIM:618205 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Mitral stenosis, Coarctation of aorta |
OMIM:617260 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Myelodysplasia, Cryptorchidism, Premature graying of hair, Squamous cell car... |
OMIM:620365 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
| Congenital Myopathy 12 |
|
Death in infancy, Small for gestational age, Akinesia, Jaw contracture, Pulmonary artery stenosis... |
OMIM:612540 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart |
OMIM:618142 |
| Meningococcal Meningitis |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypotension, L... |
ORPHA:33475 |
| Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Hydrops fetalis, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Spars... |
OMIM:613610 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Right ventricula... |
ORPHA:100075 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Rhabdomyosarcoma, Coarctation of aorta, Abnormal aortic morphology, Muscula... |
ORPHA:1052 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Urinary incontinence, Akinesia, Rigidity, Babinski sign, Ga... |
ORPHA:247234 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Small for gestational age, Ventricular septal defect |
ORPHA:3369 |
| Temple-Baraitser Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:611816 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Small for gestational age, Ventricular septal defect, Patent ductus arteriosus,... |
OMIM:617021 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Akinesia, Death in childhood, Neonatal death, Increased variability in muscle f... |
OMIM:619334 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in infancy, Small for gestational age, Cardiomegaly, Hypertension, Death in childhood, Pulm... |
OMIM:613320 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... |
ORPHA:904 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect |
OMIM:113301 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Thickened skin, Myeloproliferative disorder, Hypotensi... |
ORPHA:79456 |
| Intestinal Dysmotility Syndrome |
|
Polyhydramnios, Decreased intestinal transit time, Weight loss, High palate, Failure to thrive, B... |
OMIM:620045 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Hypogonadotropic hypogonadism, Honeycomb palmoplantar hyperkeratosis, Cleft palate, Hyp... |
ORPHA:494 |
| Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Es... |
ORPHA:3380 |
| Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Dilated ... |
OMIM:610768 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ed... |
ORPHA:103910 |
| Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Xerostomia, Oral ulcer, Nephrolithiasis, Weight loss, Pleu... |
OMIM:617321 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Amyoplasia, Flexion contracture, Hypoplastic heart, Akinesia |
OMIM:253290 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Myotonia, Ataxia, Postural tremor, Head titu... |
OMIM:615491 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
| Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Urinary incontinence, Tre... |
OMIM:146500 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Ventricular septal defect, Tetralogy of Fallot, Coarctation of aorta, Strok... |
OMIM:118450 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Elevated circulating creatine kinase concentration, Edema, Sparse eyebrow... |
OMIM:604173 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Homocitrullinuria |
OMIM:238970 |
| Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Colitis, Myelodysplasia, Ra... |
ORPHA:3260 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Potocki-Lupski Syndrome |
|
Small for gestational age, Hypocholesterolemia, Atrial septal defect, Failure to thrive, Patent f... |
OMIM:610883 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
| Citrullinemia Type Ii |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypercholesterolemia... |
ORPHA:247585 |
| Alveolar Echinococcosis |
|
Fatigue, Low back pain, Ataxia, Abnormal pericardium morphology, Portal hypertension, Abdominal p... |
ORPHA:284 |
| Brain-Lung-Thyroid Syndrome |
|
Incoordination, Ventricular septal defect, Ataxia, Involuntary movements, Dystonia, Chorea, Clums... |
ORPHA:209905 |
| Pseudo-Torch Syndrome 3 |
|
Death in infancy, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration... |
OMIM:618886 |
| Flynn-Aird Syndrome |
|
Carious teeth, Skeletal muscle atrophy, Alopecia, Cachexia |
ORPHA:2047 |
| 20Q13.33 Microdeletion Syndrome |
|
Dilation of Virchow-Robin spaces, Small for gestational age, Failure to thrive in infancy, Facial... |
ORPHA:261311 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Elevated circ... |
OMIM:618775 |
| Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Pelvic kidney, Horseshoe kidney, Squamous cell carcinoma |
OMIM:613951 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Cryptorchidism, Patent ductus arteriosus, Atri... |
OMIM:618316 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
| Isovaleric Acidemia |
|
Lethargy, Cerebellar hemorrhage, Hyperglycinuria, Dehydration |
OMIM:243500 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Splenomegaly, Congestive heart failure, Increased total bili... |
ORPHA:90037 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Curly hair, Sparse scalp hair, Ventricular septal defect, Polyhydramnios, L... |
OMIM:607721 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Weight loss |
OMIM:275000 |
| Pfapa Syndrome |
|
Fatigue, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Arthralgia |
ORPHA:42642 |
| Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Renal insufficiency, Portal hypertension, Spider hemangioma, Ce... |
ORPHA:171 |
| Schuurs-Hoeijmakers Syndrome |
|
Speech apraxia, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac... |
OMIM:615009 |
| Orofaciodigital Syndrome Xvi |
|
Hamartoma of tongue |
OMIM:617563 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... |
ORPHA:508498 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery steno... |
ORPHA:251071 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Ventricular septal defect, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Epis... |
OMIM:615948 |
| Hyperinsulinism Due To Insr Deficiency |
|
Fatigue, Abnormal circulating C-peptide concentration |
ORPHA:263458 |
| African Trypanosomiasis |
|
Urinary incontinence, Tremor, Impaired proprioception, Choreoathetosis, Arthralgia, Fatigue, Abno... |
ORPHA:3385 |
| Congenital Myopathy 22A, Classic |
|
Fatigue, Waddling gait, Scapular winging, Tricuspid regurgitation, Hip contracture, Centrally nuc... |
OMIM:620351 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... |
ORPHA:2306 |
| Ciliary Dyskinesia, Primary, 37 |
|
Situs inversus totalis, Right aortic arch, Dextrocardia, Female infertility |
OMIM:617577 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Hepatomegaly, Tachycardia, Peptic ulcer, Myelodysplasia, Hematological ne... |
ORPHA:98849 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Dehydration, In... |
ORPHA:556030 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal heart morphology... |
ORPHA:261197 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Wolff-Parkinson-White syndrome |
ORPHA:261295 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Failure to thrive, Death in infancy, Ventricular septal defect, Shoulder flexion... |
OMIM:210710 |
| Lead Poisoning |
|
Fatigue, Decreased HDL cholesterol concentration, Somatic sensory dysfunction, Decreased female l... |
ORPHA:330015 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Facial edema, Depression, Macroglossia, Abnormal circulating thyroglobulin ... |
ORPHA:90674 |
| X-Linked Sideroblastic Anemia |
|
Fatigue, Splenomegaly, Abnormality of iron homeostasis |
ORPHA:75563 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Bradykinesia, Slowed slurred speech |
OMIM:619827 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
| Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Deep philtrum, High palate, Gastroesophageal reflux, Sparse hair, Atrial septal d... |
OMIM:115150 |
| Citrullinemia Type I |
|
Torticollis, Hyperammonemia, Gastroesophageal reflux, Elevated plasma citrulline, Lethargy, Failu... |
ORPHA:247525 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Myotonia, Abnormal muscle fiber morphology, Impaired myocardial contractili... |
ORPHA:681 |
| Medulloblastoma |
|
Cerebellar hemorrhage, Medulloblastoma, Adenomatous colonic polyposis, Spinal cord tumor, Neoplas... |
ORPHA:616 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Cryptorchidism,... |
ORPHA:353281 |
| Cholangiocarcinoma |
|
Fatigue, Abdominal pain |
ORPHA:70567 |
| You-Hoover-Fong Syndrome |
|
Ataxia, Coarctation of aorta, Vascular ring, Spasticity, Double aortic arch |
OMIM:616954 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Conjugated hyperbilirubinemia, Arthrog... |
OMIM:613404 |
| Japanese Encephalitis |
|
Hyponatremia, Skeletal muscle atrophy, Facial palsy, Elbow flexion contracture, Distal lower limb... |
ORPHA:79139 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Spasticity, Clonus, Tetraplegia, Cardiomegaly |
ORPHA:3137 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Natal tooth, Cardiomegaly, Absent eyelashes, Acantholysis, Oligohydramnios, Cleft... |
ORPHA:158687 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Small for gestational age, Ventricular septal defect, Ataxia, Inability... |
ORPHA:79243 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Chronic fatigue, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, Tetra... |
ORPHA:361 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Congenital bullous ichthyosifo... |
ORPHA:312 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Left-to-right shunt, Premature ovarian insufficiency, Endometriosis, Muscular ventricular septal ... |
ORPHA:363444 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Recurrent respiratory infections, Renal salt wasting, Hyperkalemia, Dehydration, Hy... |
OMIM:264350 |
| Noonan Syndrome 1 |
|
Male infertility, Ventricular septal defect, Failure to thrive in infancy, Cryptorchidism, Patent... |
OMIM:163950 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Exercise intolerance, Skeletal muscle atrophy, Chronic fatigue, Failure to thrive in infancy, Spi... |
ORPHA:254875 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... |
OMIM:168601 |
| Q Fever |
|
Fatigue, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myoca... |
ORPHA:781 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Dehydration, Increased circulating renin level, H... |
OMIM:203400 |
| Frontoocular Syndrome |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:605321 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Abnormality of the dentition, Esophageal stricture, Dilated cardiomyopathy, P... |
OMIM:613989 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
| Rubinstein-Taybi Syndrome 1 |
|
Incoordination, Ventricular septal defect, Small for gestational age, Bilateral cryptorchidism, C... |
OMIM:180849 |
| Diamond-Blackfan Anemia 1 |
|
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm... |
OMIM:105650 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ataxia, Ventricular septal defect, Patent ductus arteriosus, Knee flexio... |
ORPHA:435638 |
| Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Gait imbalanc... |
ORPHA:2828 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia |
ORPHA:683 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Dysuria, Con... |
ORPHA:35687 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Urinary incontinence, Akinesia, Trem... |
OMIM:234200 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Edema, Disseminated cutaneous warts, Pericardia... |
ORPHA:90362 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy |
OMIM:618225 |
| Proteus Syndrome |
|
Decreased muscle mass, Pulmonary embolism, Neoplasm of the thymus, Lymphedema, Abnormal lung loba... |
ORPHA:744 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematological neoplasm, Gastrointes... |
ORPHA:99147 |
| Leprechaunism |
|
Skeletal muscle atrophy, Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Ac... |
ORPHA:508 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Fatigue, Skeletal muscle atrophy, Scapular winging, Ataxia, Spastic paraplegia, Hemiparesis, Myop... |
ORPHA:98673 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Distal renal tubular acidosis, Hepatosplenomegaly, Nephrocalcinosis, Hypokalemia, Le... |
OMIM:611590 |
| Evans Syndrome |
|
Lethargy, Syncope, Epistaxis |
ORPHA:1959 |
| Acute Interstitial Pneumonia |
|
Fatigue, Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated ci... |
ORPHA:79126 |
| Harlequin Ichthyosis |
|
Recurrent respiratory infections, Sudden cardiac death, Dehydration, Hyperkeratosis, Congenital i... |
ORPHA:457 |
| Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Proteinuria,... |
ORPHA:2331 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Spasticity |
ORPHA:452 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Gaucher Disease Type 3 |
|
Fatigue, Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Ataxia, Peric... |
ORPHA:77261 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Posterior Urethral Valve |
|
Renal insufficiency, Urinary incontinence, Dysuria, Urethral stenosis, Chronic kidney disease, St... |
ORPHA:93110 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Polyhydramnios, Conjugated hyperbilirubinemia, ... |
OMIM:617156 |
| Emanuel Syndrome |
|
Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Cryp... |
OMIM:609029 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splenomegaly, Hypertension, Palpitat... |
ORPHA:525731 |
| Infantile Krabbe Disease |
|
Cachexia, Abnormal heart rate variability, Shoulder girdle muscle weakness, Gastroesophageal refl... |
ORPHA:206436 |
| Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyperkeratosis, Diffuse p... |
ORPHA:2199 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus, Lower limb hy... |
OMIM:619995 |
| Microsporidiosis |
|
Myositis, Pneumonia, Cachexia, Bronchitis, Myocarditis, Prostatitis, Urethritis, Abnormal endomet... |
ORPHA:2552 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:1926 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi... |
OMIM:603041 |
| Follicular Lymphoma |
|
Fatigue, Splenomegaly, Night sweats, Weight loss |
ORPHA:545 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Ataxia, Cryptorchidism, Macroglossia, Transposition of the great arteries, Patent foramen ovale |
OMIM:616789 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Overweight, Patent ductus arteriosus, Ventricular septal defect |
OMIM:619769 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Death in infancy |
ORPHA:93946 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Lethargy |
ORPHA:289916 |
| Cystic Echinococcosis |
|
Fatigue, Hepatomegaly, Abnormality of the testis size, Weight loss, Abnormal heart morphology, Hy... |
ORPHA:400 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
| Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration, Ileus, Open mouth |
ORPHA:52503 |
| Zebra Body Myopathy |
|
Waddling gait, Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Elevated circul... |
ORPHA:97240 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus... |
OMIM:270400 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Urinary incontinence, Congestive heart failure, Uterine leiomyoma, Gastroesophageal reflux, Acant... |
OMIM:616482 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Secundum atrial septal defect, Babinski sign, Scissor gait, Spastic tetraplegia, Dysmetria, Facia... |
OMIM:619121 |
| Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Steatocystoma multiplex, Linear arrays of macular hyper... |
ORPHA:2309 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Hyperphenylalaninemia, Dysphagia, Limb hypertonia |
OMIM:233910 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Exaggerated startle response, Elevated circulating creatine kinase conce... |
OMIM:253800 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Tremor, Muscular ventricular septal defect, Patent d... |
OMIM:612474 |
| Seckel Syndrome 10 |
|
Ventricular hypertrophy, Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure,... |
OMIM:617253 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Involuntary movements, Chorea, Gait ataxia, Hypertonia, Arthrogryposis... |
OMIM:614961 |
| Galloway-Mowat Syndrome 3 |
|
Coarctation of aorta, Hypertension, Hypoalbuminemia, Camptodactyly, Spasticity, Failure to thrive |
OMIM:617729 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Clitoral hypertrophy, Penoscrotal hypospadias, Hypospadias, Renal salt wasting, Fem... |
ORPHA:90791 |
| Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Small for gestational age, Congenital diaphragmatic hernia, Esophageal atresia, Cr... |
ORPHA:95706 |
| Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Gastrointestinal dysmotility, Complex organ... |
ORPHA:506 |
| Gaucher Disease |
|
Elevated circulating C-reactive protein concentration, Tremor, Bone pain, Arthralgia, Cherry red ... |
ORPHA:355 |
| Jacobsen Syndrome |
|
Death in infancy, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic le... |
ORPHA:2308 |
| Dyskeratosis Congenita |
|
White hair, Anorectal anomaly, Premature graying of hair, Neoplasm, Periodontitis, Sparse hair, H... |
ORPHA:1775 |
| Loeys-Dietz Syndrome 4 |
|
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Chronic pain, Mitral valve prolapse, Asc... |
OMIM:614816 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Ventricular septal defect, Shoulder muscle hypoplasia, Patent ductus arteriosus... |
OMIM:274000 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Male infertility, Tachycardia, Streak ovary, Bicuspid aortic valve, Unilat... |
ORPHA:1772 |
| Nipah Virus Disease |
|
Fatigue, Tremor, Myalgia, Myoclonus, Hypotension |
ORPHA:99825 |
| Tyshchenko Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
| Chronic Hiccup |
|
Depression, Abnormality of the diaphragm, Dehydration, Weight loss |
ORPHA:396 |
| Acute Transverse Myelitis |
|
Back pain, Urinary incontinence, Dissociated sensory loss, Impaired proprioception, Upper limb mu... |
ORPHA:139417 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hyperalaninemia, Hepatomegaly, Skeletal muscle atrophy, 3-hydroxydicarboxylic aciduria, Hypospadi... |
OMIM:252010 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Hepatomegaly, Patent duc... |
OMIM:602782 |
| Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary venous occlusion, Chronic fatigue |
OMIM:234810 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Fibrocystic lung disease, Pneumonia, Erythematous oral mucosa, Recurrent pneumonia, Cor... |
OMIM:158310 |
| Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Failure to thrive, Patent forame... |
OMIM:618950 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Cerebral edema, Hyperammonemia, Episodic ammonia intoxication, Lethargy, F... |
OMIM:237300 |
| Pyruvate Dehydrogenase Deficiency |
|
Multiple lipomas, High palate, Lethargy, Long philtrum |
ORPHA:765 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Edema, Malabsorption, Elevated circulating C-reactive ... |
ORPHA:2070 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Synophrys, Downturned corners of mouth, Glossoptosis, High palate, Gastroesophageal reflux, Aspir... |
ORPHA:444077 |
| Meckel Syndrome, Type 7 |
|
Portal hypertension, Situs inversus totalis, Patent ductus arteriosus, Hepatosplenomegaly, Hypert... |
OMIM:267010 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Congestive heart failure, Hypercalciuria, Depression, Nephrocalcinosis, Hyperphosphatem... |
ORPHA:428 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Pericarditis, Renal insufficiency, Epistaxis, Congestive heart failu... |
ORPHA:727 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Obesity |
ORPHA:1035 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, U... |
ORPHA:466768 |
| Noonan Syndrome 5 |
|
Large for gestational age, Cryptorchidism, Arrhythmia, Pulmonic stenosis, Atrial septal defect, H... |
OMIM:611553 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Secundum atrial septal defect, Cryptorchidism, Unsteady gait, Gait ataxia, Contracture of the pro... |
OMIM:618109 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| 16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Bilateral cryptorchidism, Abnormal heart morphology, Abnormal tricuspid valve morpho... |
ORPHA:485405 |
| Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Mechanical ileus, Tricuspid stenosis, Functional intestinal obstruction, Midgut mal... |
ORPHA:100079 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Incoordination, Ventricular septal defect, Ataxia, Cryptorchidism, Abnormal heart morphology, Mac... |
ORPHA:369891 |
| Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Coarctation of aorta, Abnormal cardiac ... |
ORPHA:2322 |
| Poliomyelitis |
|
Fatigue, Exercise intolerance, Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis,... |
ORPHA:2912 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyp... |
ORPHA:79395 |
| 3C Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid... |
ORPHA:7 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Lethargy, ... |
ORPHA:470 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypomagnesemia |
OMIM:619908 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Abnor... |
ORPHA:500159 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Abnormal urinary color, Hepato... |
ORPHA:234 |
| Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Hamartoma of tongue, Accessory oral frenulum, Bilateral cryptorchidism... |
ORPHA:434179 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Thickened skin, Angioedema, Hypotension, Peau d'orange, Telangiectasi... |
ORPHA:79455 |
| Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Difficulty walking, Mitral valve prolapse |
OMIM:619543 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Hypogeusia, Alopecia of scalp, Decreased serum zinc, Hypogonadism, Le... |
OMIM:201100 |
| Flynn-Aird Syndrome |
|
Carious teeth, Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Palpebral edema, Sparse axillary hair, Unilateral renal agenesis, Sparse pub... |
OMIM:181270 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Arthralgia, Patent foramen ovale, Obesity |
OMIM:618821 |
| Rheumatoid Arthritis |
|
Fatigue, Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Digital ... |
OMIM:180300 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, A... |
OMIM:618870 |
| Classic Galactosemia |
|
Hepatomegaly, Cryptorchidism, Depression, Lethargy, Ascites |
ORPHA:79239 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, C... |
ORPHA:98908 |
| Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Proximal tubulopathy, Lethargy, Hypertrophic cardiomyopat... |
ORPHA:2609 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Cachexia, Aortic valve calcificatio... |
ORPHA:2072 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:75389 |
| Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Cardiomegaly, Congestive heart failure, De... |
ORPHA:14 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca... |
ORPHA:90349 |
| Poems Syndrome |
|
Fatigue, Pain, Pericardial effusion, Weight loss, Paresthesia, Hypogonadism, Hyperesthesia, Erect... |
ORPHA:2905 |
| Liddle Syndrome |
|
Fatigue, Hypertension, Hypokalemia, Cerebral ischemia, Arrhythmia |
ORPHA:526 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Edema, Macroglossia, Bradycardia, Lethargy, Neonatal h... |
ORPHA:90673 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ... |
ORPHA:565612 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168600 |
| Thymic Carcinoma |
|
Fatigue, Diaphragmatic paralysis, Weight loss, Chest pain, Abnormal vena cava morphology |
ORPHA:99868 |
| Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Hydrocele testis |
OMIM:145420 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Male hypogonadism, Periodic hypokalemic paresis, Fatigue, Hypogonadotropic hypogonadism, ... |
ORPHA:91347 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Increased circu... |
ORPHA:556037 |
| Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Abnormality of the gastrointestinal tract, Ketonuria, Hyperlipidemia, Glycosuria, Lethargy, Failu... |
ORPHA:2089 |
| Dermatomyositis |
|
Myocardial infarction, Edema, Periorbital edema, Inflammatory myopathy, Neoplasm, Vasculitis, Pul... |
ORPHA:221 |
| Avian Influenza |
|
Pneumonia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:454836 |
| Becker Muscular Dystrophy |
|
Exercise intolerance, Fatigue, Skeletal muscle atrophy, Elevated circulating creatine kinase conc... |
ORPHA:98895 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Pituitary adenoma, Precocious puberty, Hypotension |
ORPHA:91354 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Ventricular septal defect, Dextrocardia, Cryptorchidism, Coarctation of aorta, ... |
OMIM:616145 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Nail d... |
OMIM:616029 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Lymphedema, Splenomegaly, Acute leukemia, Intracr... |
ORPHA:3226 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect, Aortic regurgitation |
OMIM:615476 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Abruzzo-Erickson Syndrome |
|
Atrial septal defect, Cryptorchidism |
ORPHA:921 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Myelodysplasia, Carious teeth, Premature graying of hair, Interstitial pneumonitis, Squ... |
OMIM:127550 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Incoordination, Ventricular septal defect, Ataxia, Tremor, Unstea... |
OMIM:614947 |
| Listeriosis |
|
Back pain, Fatigue, Pericarditis, Somatic sensory dysfunction, Ataxia, Miscarriage, Abdominal pai... |
ORPHA:533 |
| Dowling-Degos Disease |
|
Penile freckling, Keratoacanthoma, Hyperkeratosis, Anal margin squamous cell carcinoma, Scrotal h... |
ORPHA:79145 |
| Cystinosis |
|
Fatigue, Portal hypertension, Abnormal pyramidal sign, Myopathy, Hypokalemia, Gait disturbance, H... |
ORPHA:213 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Ventricular septal defect, Diastasis recti, Large for gestational age,... |
ORPHA:254534 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Death in infancy, Dystonia, Ataxia, Elevated circulating creatine kin... |
OMIM:610505 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Oculomotor apraxia, Ataxia |
OMIM:608629 |
| Liposarcoma |
|
Fatigue, Abdominal pain, Weight loss, Varicose veins, Paresthesia |
ORPHA:69078 |
| Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Small for gestational age, Nonimmune hydrops f... |
OMIM:166210 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Broad-based gait, Ataxia, Patent ductus arteriosus, Babinski sign, Hepatosplenomegaly, Macrogloss... |
ORPHA:397709 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurren... |
OMIM:252920 |
| Kagami-Ogata Syndrome |
|
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Patent ductus arteriosus,... |
OMIM:608149 |
| Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Weight loss, Hyperkeratosis, Infl... |
ORPHA:29207 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Myotonic Dystrophy 1 |
|
Atrial flutter, Myotonia, Atrial fibrillation, Frontal balding, First degree atrioventricular blo... |
OMIM:160900 |
| Brody Disease |
|
Somatic sensory dysfunction, Myotonia, Flexion contracture, Percussion myotonia, Skeletal muscle ... |
OMIM:601003 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension |
OMIM:617068 |
| Renal Nutcracker Syndrome |
|
Fatigue, Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Abdominal pain, Flank p... |
ORPHA:71273 |
| Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati... |
OMIM:208050 |
| Aspergillosis |
|
Pneumonia, Hematological neoplasm, Hypersensitivity pneumonitis, Bronchiectasis, Intracranial hem... |
ORPHA:1163 |
| Solitary Fibrous Tumor |
|
Soft tissue neoplasm, Vaginal neoplasm, Reduced C-peptide level, Genital neoplasm, Weight loss, N... |
ORPHA:2126 |
| Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Fatigue, Weight loss |
ORPHA:66661 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive... |
OMIM:256040 |
| Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Angiosarcoma, Hyperkeratosis, Hydro... |
ORPHA:79452 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Elevated circulating creatine kinase concentration, Skeletal muscle hypertrophy, Calf mu... |
OMIM:613157 |
| Dyskeratosis Congenita, Digenic |
|
Decreased testicular size, Alopecia, Sparse eyelashes, Abnormality of the dentition, Melanoma, Ba... |
OMIM:620040 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Telangiectasia of the skin, Abnormal dental enamel morpholog... |
ORPHA:464 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Small for gestational age, Akinesia, Spastic tetraplegia, Hypertonia, D... |
OMIM:619147 |
| Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Abnormal aortic val... |
OMIM:613707 |
| Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Obesity, Hypotension |
ORPHA:369873 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Patent ductus arteriosus, Coarctation of aorta, Unilateral facial palsy, Atrioventri... |
OMIM:619480 |
| Glutaric Acidemia Type 3 |
|
Elevated circulating glutaric acid concentration, Ketonuria, Glutaric aciduria, Abnormality of ci... |
ORPHA:35706 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Laryngeal papilloma, Elevated circulating C-reactive protein concentration, Splenom... |
OMIM:617388 |
| Marfan Syndrome |
|
Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Dental crowding... |
ORPHA:558 |
| Brucellosis |
|
Fatigue, Hepatomegaly, Pericarditis, Small for gestational age, Transient ischemic attack, Miscar... |
ORPHA:1304 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Distal amy... |
ORPHA:300605 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ganglioneuroblastoma, Elevated urinary dopamine level, Weig... |
OMIM:256700 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender... |
OMIM:300967 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
| Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Lymphoproliferative disorder, Lymphedema, Neoplasm by ... |
ORPHA:33276 |
| Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial ano... |
ORPHA:95430 |
| Leishmaniasis |
|
Fatigue, Hepatomegaly, Splenomegaly, Night sweats, Weight loss, Arthralgia, Hypoalbuminemia |
ORPHA:507 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Hypogonadism, Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, Hypertonia, Dyst... |
OMIM:610217 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Hyperbilirubinemia, Decreased body weight, Atrial septal defect, Elevat... |
OMIM:614886 |
| Glycogen Storage Disease Ixa1 |
|
Fatigue, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Facial hypotonia, Mitral valve prolapse, Mitral regurgitation, Arthralgia, Myalgia, Camptodactyly... |
OMIM:615539 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Ventricular septal defect, Ataxia, Choreoathetosis, Difficulty walking, Dystoni... |
OMIM:610978 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth, Lethargy, Flexion contracture, Nephrocalcinosis |
OMIM:617105 |
| Tarp Syndrome |
|
Subdural hemorrhage, Tetralogy of Fallot, Athetosis, Neonatal death, Atrial septal defect, Failur... |
OMIM:311900 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Splenomegaly, Esophageal varix, Hepatocellular carc... |
OMIM:619463 |
| 19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Cryptorchidism, Hyperlipidemia, Obesity, Mitral ... |
ORPHA:254346 |
| Keutel Syndrome |
|
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Al Kaissi Syndrome |
|
Atrial septal defect, Torticollis, Broad-based gait, Decreased body weight |
OMIM:617694 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Right ventricular failure, He... |
ORPHA:100085 |
| Lichen Planopilaris |
|
Hyperkeratosis, Alopecia, Abnormal intestine morphology, Neoplasm of the oral cavity |
ORPHA:525 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Pulmon... |
ORPHA:2519 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, A... |
OMIM:300998 |
| Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca, Hypoproteinemia, Anal atresia |
OMIM:260450 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Small for gestational age, Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Mitral... |
ORPHA:363611 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Decreased body w... |
ORPHA:1667 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Ataxia, Mitral valve prolapse, Hypertonia, Gait disturbance, Atrial septal defect, Failure to thrive |
OMIM:300986 |
| Seckel Syndrome 9 |
|
Ventricular septal defect, Small for gestational age, Congenital diaphragmatic hernia, Pulmonary ... |
OMIM:616777 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Small for gestational age, Cryptorchidism, Ventricular septal defect |
OMIM:617635 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia |
OMIM:247100 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
| Short Stature-Micrognathia Syndrome |
|
Ventricular septal defect, Ataxia, Cryptorchidism, Gait ataxia, Skeletal muscle hypertrophy, Decr... |
OMIM:617164 |
| Tetrasomy 15Q26 |
|
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodactyly |
OMIM:614846 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Impaired toileting ability |
OMIM:619356 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Fatigue, Portal hypertension, Abdominal pain, Splenome... |
ORPHA:1414 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Aortic valve calcification, Aortic valve stenosis, Arrhythmia |
OMIM:616298 |
| Pulmonary Alveolar Microlithiasis |
|
Fatigue, Hepatomegaly, Mitral valve calcification, Right ventricular failure, Increased pulmonary... |
ORPHA:60025 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Noncompaction cardiomyopathy, Tricuspid regurgitation, Myelodysplasia,... |
ORPHA:508542 |
| Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Thickened sk... |
OMIM:231050 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
| Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Astrocytoma, Neoplasm of the central nervous system, Hyperkeratosis, Hypophosp... |
ORPHA:2611 |
| Eosinophilic Fasciitis |
|
Fatigue, Myositis, Weight loss, Arthralgia, Myalgia, Paresthesia, Muscular edema |
ORPHA:3165 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... |
ORPHA:99228 |
| Monosomy X |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... |
ORPHA:99226 |
| Turner Syndrome |
|
Prolonged QT interval, Aortic arch aneurysm, Arterial dissection, Bicuspid aortic valve, Failure ... |
ORPHA:881 |
| Coffin-Siris Syndrome 5 |
|
Atrial septal defect |
OMIM:616938 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Inability to walk, Flexion contracture, Gait ataxia, Atrial septal defect, Hypertro... |
OMIM:619383 |
| Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia, Broad-based gait |
OMIM:617450 |
| Tick-Borne Encephalitis |
|
Speech apraxia, Back pain, Fatigue, Incoordination, Skeletal muscle atrophy, Facial palsy, Somati... |
ORPHA:297 |
| Mirage Syndrome |
|
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Myelodysplasia, Cryptorchidism, Esopha... |
OMIM:617053 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia, Weight loss, Organic aciduria, Lethargy |
ORPHA:79242 |
| Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Lethargy |
OMIM:274400 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocard... |
ORPHA:1054 |
| Congenital Enterovirus Infection |
|
Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Hyperammonemia... |
ORPHA:292 |
| Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Preductal coarctation of the aorta |
OMIM:215045 |
| Igg4-Related Aortitis |
|
Low back pain, Thoracic aortic aneurysm, Elevated circulating C-reactive protein concentration, A... |
ORPHA:449400 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Cryptorchidism,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Cryptorchidism,... |
ORPHA:353277 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity, Depression |
ORPHA:238624 |
| Malignant Hyperthermia Of Anesthesia |
|
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Myog... |
ORPHA:423 |
| Alagille Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Ventricular septal defect, Cryptorchidism, Hypertension... |
ORPHA:52 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Flexion contracture, Cleft palate, Abnormal heart morphology, Abnormal heart ra... |
ORPHA:220386 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Edema, Dehydration, Weight loss, Hyperammonemia, Hypertension, Apathy, H... |
ORPHA:134 |
| Gitelman Syndrome |
|
Prolonged QT interval, Fatigue, Ataxia, Paralysis, Abdominal pain, Hypomagnesemia, Rhabdomyolysis... |
OMIM:263800 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Flexion contracture, Cleft palate, Abnormal heart morphology, Abnormal heart ra... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Flexion contracture, Cleft palate, Abnormal heart morphology, Abnormal heart ra... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Flexion contracture, Cleft palate, Abnormal heart morphology, Abnormal heart ra... |
ORPHA:93924 |
| Erythrocytosis, Familial, 1 |
|
Fatigue, Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Hypertension |
OMIM:133100 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperuricemia, Neoplasm of the oral cavity, ... |
ORPHA:543 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol, Lethargy |
OMIM:229700 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Small for gestational age, Complete atrio... |
ORPHA:508488 |
| Emanuel Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma... |
ORPHA:96170 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Ataxia, Unstea... |
ORPHA:457279 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Hyperalaninemia, Elevated circulating acylcarnitine concentration, Abnormal circulating creatine ... |
OMIM:615838 |
| Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect |
OMIM:615879 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Congenital muscular d... |
OMIM:254090 |
| Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hip contracture, Hepatomegaly, Ventricular septal defect, Splenomegaly |
OMIM:616651 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Generalized amyotrophy, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Failure to thrive, Hypoplastic left heart, Bicuspid aortic valve |
OMIM:619721 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Congenital diaphragma... |
OMIM:600001 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... |
OMIM:145600 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, High, narrow palat... |
ORPHA:228308 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
| Thymoma |
|
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Weight loss, Neoplas... |
ORPHA:99867 |
| Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Small for gestational age, Ataxia, Tremor, Cryptorchidism, Hyperammonemia, Hypertension, Arrhythm... |
OMIM:614052 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Bicuspid aortic valve, Hepatosplenomegaly |
OMIM:618955 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral... |
OMIM:123700 |
| Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
ORPHA:171851 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Dystonia, Atrial septal defect |
ORPHA:457193 |
| Stickler Syndrome |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Slender build, Abnormal dental enamel ... |
ORPHA:828 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Small for gestational age, Ventricular septal defect, Contractures of the large joints, Hypertoni... |
ORPHA:3078 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale |
ORPHA:89844 |
| Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
| Even-Plus Syndrome |
|
Atrial septal defect, Patent foramen ovale |
OMIM:616854 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Gastroesophageal... |
ORPHA:191 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
Congenital diaphragmatic hernia, Patent foramen ovale, Premature ovarian insufficiency, Coronary-... |
OMIM:619699 |
| Hyperprolinemia Type 2 |
|
Exercise intolerance, Chronic fatigue, Abdominal pain, Dysesthesia, Unsteady gait, Hyperprolinemi... |
ORPHA:79101 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Cheilitis, Leukonychia, Hy... |
OMIM:616295 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Recurrent respiratory infections, Splenomegaly, Recurrent pharyngitis... |
ORPHA:47612 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Fatigue, Myositis, Myocarditis, Splenome... |
ORPHA:809 |
| 17Q11 Microdeletion Syndrome |
|
Pain, Abnormal central motor function, Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal int... |
ORPHA:97685 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension, Failure ... |
OMIM:177735 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Odynophagia, Dehydration, Hypoalbuminemia, Le... |
ORPHA:99826 |
| Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Patent ductus arteriosus, Arthralgia, Tip-toe gait, Patent foramen ovale, Neonatal hyp... |
ORPHA:293939 |
| Neuroleptic Malignant Syndrome |
|
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Tre... |
ORPHA:94093 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
| Intellectual Disability And Myopathy Syndrome |
|
Left ventricular systolic dysfunction, Fatigue, Achilles tendon contracture |
OMIM:619719 |
| Primary Pulmonary Hypoplasia |
|
Dextrocardia, Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Increased circula... |
ORPHA:2257 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Small for gestational age, Edema, Elevated circulating C-reactive prot... |
ORPHA:90051 |
| Castleman Disease |
|
Fatigue, Elevated circulating C-reactive protein concentration, Abdominal pain, Flank pain, Weigh... |
ORPHA:160 |
| Isolated Klippel-Feil Syndrome |
|
Hemiplegia/hemiparesis, Ventricular septal defect, Congenital muscular torticollis |
ORPHA:2345 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina p... |
ORPHA:900 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Malabsorption, Abnormal lung morphology, Recurrent pneumonia, Weight loss, Glossoptosis... |
ORPHA:47 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Increased v... |
OMIM:617022 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Villous atrophy, Brittle hair, Parakeratosis, Britt... |
OMIM:256500 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral... |
OMIM:612582 |
| Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Premature ovarian insufficiency, Ventricular septal defect, Endometriosis |
OMIM:613680 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Percussion myotonia, Skeletal muscle hypertrophy, Myotonia with warm... |
OMIM:160800 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia |
OMIM:616730 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect, Spasticity, Decreased body weight |
OMIM:618665 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
| Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
| Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Congestive heart failure, High, narrow palate, Recurrent pneumonia, Elbow ... |
ORPHA:1900 |
| Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Ventricular septal defect, Failure to thrive in infancy,... |
OMIM:615582 |
| Noonan Syndrome 4 |
|
Ventricular septal defect, Large for gestational age, Cryptorchidism, Pulmonic stenosis, Atrial s... |
OMIM:610733 |
| Zechi-Ceide Syndrome |
|
Atrial septal defect, Abnormal heart morphology |
ORPHA:217017 |
| Adrenomyeloneuropathy |
|
Back pain, Fatigue, Female sexual dysfunction, Urinary incontinence, Bowel incontinence, Abnormal... |
ORPHA:139399 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cachexia |
ORPHA:220295 |
| Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Pul... |
OMIM:300963 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... |
ORPHA:90348 |
| Bdv Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Atrial septal defect |
OMIM:619326 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
OMIM:218350 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Small for gestational... |
ORPHA:2255 |
| Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Thick lower lip vermilion, Long penis, Gingival over... |
OMIM:246200 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
| Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... |
ORPHA:388 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration, Mitral valve prolapse, Hypertension, Aortic root a... |
ORPHA:730 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:241310 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Gastroesophageal reflux, Hypotension, Lethargy, Limb hypertonia |
OMIM:608643 |
| Distal Triplication 15Q |
|
Large for gestational age, Patent ductus arteriosus, Flexion contracture, Hypoplastic aortic arch... |
ORPHA:314588 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Barrett esophagus, Intestinal pseudo-obstruction, Intestinal malrotation,... |
OMIM:619350 |
| Meige Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Facial edema, Edema of the dorsum of hands, Peri... |
ORPHA:90186 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
| Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Dystonia, Spasticity, Failure to thrive, Pa... |
OMIM:251290 |
| Stevenson-Carey Syndrome |
|
Atrial septal defect, Joint contracture of the hand, Left superior vena cava draining to coronary... |
OMIM:611961 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Dehydration, Methylmalonic acidu... |
OMIM:251110 |
| Gaisböck Syndrome |
|
Fatigue, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, ... |
ORPHA:90041 |
| Intellectual Disability-Strabismus Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Achilles tendon contracture, Patent ductus arter... |
ORPHA:363528 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Sudd... |
ORPHA:537 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Obesity, Oculomotor apraxia |
OMIM:615630 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Sudd... |
ORPHA:36426 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Alopecia, Failure to thrive, Abnormal pulmonary valve morphology, Po... |
ORPHA:974 |
| Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormal pyramidal sign, Spastic tetraplegia, ... |
ORPHA:349 |
| Hutchinson-Gilford Progeria Syndrome |
|
Congestive heart failure, Alopecia, Angina pectoris, Myocardial infarction |
OMIM:176670 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Poor fine motor coordination, Sick sinus syndrome, Bradycardia, Prolon... |
ORPHA:542306 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| X Small Rings |
|
Premature ovarian insufficiency, Ventricular septal defect, Bicuspid aortic valve, Primary amenor... |
ORPHA:96201 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Hypoargininemia, Hyperglutaminemia, Oroticaciduria, Cerebra... |
OMIM:207900 |
| Lujan-Fryns Syndrome |
|
Atrial septal defect, Macroorchidism, Camptodactyly of finger |
ORPHA:776 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Bicuspid aortic valve, High, narrow palate, Synophrys, High palate, Short philtrum... |
OMIM:619475 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Small for gestational age, Cryptorchidism, Pate... |
OMIM:610443 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Fatigue, Hip contracture, Flexion contracture of finger, Hypoplasia of the musculature, Ankle fle... |
ORPHA:2020 |
| Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bicuspid aortic valve, Colitis, Hepatoblastoma, Atrial septal defe... |
ORPHA:84064 |
| Floating-Harbor Syndrome |
|
Speech apraxia, Broad-based gait, Small for gestational age, Cryptorchidism, Tetralogy of Fallot,... |
ORPHA:2044 |
| Immunodeficiency, Common Variable, 11 |
|
Fatigue, Failure to thrive |
OMIM:615767 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Congestive ... |
ORPHA:2108 |
| Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:143 |
| Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... |
OMIM:609454 |
| Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fatigue, Hepatomegaly, Exercise intolerance, Skeletal muscle atrophy, Hypertriglyceridemia, Dysme... |
ORPHA:79240 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Myelodysplasia, Splenomegaly, Chronic myelogen... |
ORPHA:71493 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Erythrocytosis, Familial, 2 |
|
Fatigue, Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertensio... |
OMIM:263400 |
| Aase-Smith Syndrome I |
|
Death in infancy, Flexion contracture, Ventricular septal defect |
OMIM:147800 |
| Shigellosis |
|
Fatigue, Hyponatremia, Failure to thrive in infancy, Abdominal pain, Myocarditis, Rhabdomyolysis,... |
ORPHA:810 |
| Filippi Syndrome |
|
Ventricular septal defect, Cryptorchidism, Paraplegia, Limb dystonia, Spasticity |
ORPHA:3255 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Angulated muscle fibers, High palate, Muscular dystro... |
OMIM:617066 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Coffin-Siris Syndrome 6 |
|
Atrial septal defect, Diaphragmatic eventration |
OMIM:617808 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Adrenocortical carcinoma, Increased body weight, Weight loss, H... |
ORPHA:1501 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
| Cardiac-Urogenital Syndrome |
|
Unilateral cryptorchidism, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextro... |
OMIM:618280 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus, Cryptorchidism, Coarctation of a... |
OMIM:249000 |
| Hypotonia-Cystinuria Syndrome |
|
Fatigue, Failure to thrive |
ORPHA:163690 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Squamous cell carcinoma of the skin, Nail dystrophy |
OMIM:181600 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy... |
OMIM:251100 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:2655 |
| Citrullinemia, Classic |
|
Hepatomegaly, Hypoargininemia, Hyperglutaminemia, Oroticaciduria, Hyperammonemia, Episodic ammoni... |
OMIM:215700 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... |
OMIM:601104 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Coarctation of aorta, Atrioventricular cana... |
OMIM:617088 |
| Steinert Myotonic Dystrophy |
|
Handgrip myotonia, Skeletal muscle atrophy, Prolonged QRS complex, Supraventricular tachycardia, ... |
ORPHA:273 |
| Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Failure to thrive, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Fatigue, Increased circulating ferritin concentration, Abnormal serum iron concentration, Arthral... |
ORPHA:254704 |
| Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Thickened skin, Tooth malposition, Elbow fle... |
OMIM:608328 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:2256 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Waardenburg Syndrome Type 3 |
|
Atrial septal defect, Spastic paraplegia, Camptodactyly of finger |
ORPHA:896 |
| Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Malabsorption, Hydrops fetalis, Dehydra... |
OMIM:557000 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Nonimmune hydrops fetalis, Palpebr... |
OMIM:137940 |
| Thanatophoric Dysplasia Type 2 |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:93274 |
| Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Lower limb spasticity, Akinesia, Abnormal pyramidal sign, Choreoathetosis, Truncal ataxia, Hypera... |
OMIM:618249 |
| Mal De Débarquement |
|
Fatigue, Unsteady gait, Gait imbalance |
ORPHA:210272 |
| Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Multiple small medull... |
OMIM:216360 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Tachycardia, Myotonia, Elevated circulating creatine kinase concentration, Fro... |
OMIM:602668 |
| 15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Small for gestational age, Ventricular septal defect, Elevated circulating creatine... |
OMIM:301056 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Pneumothorax, Microp... |
OMIM:617403 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Esophageal varix, Hypoalbuminemia... |
ORPHA:64743 |
| Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis |
ORPHA:816 |
| Kikuchi-Fujimoto Disease |
|
Fatigue, Hepatomegaly, Ataxia, Elevated circulating C-reactive protein concentration, Myocarditis... |
ORPHA:50918 |
| Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:618504 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosifo... |
OMIM:242300 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Abnormality of... |
ORPHA:90368 |
| Thyroid Hemiagenesis |
|
Fatigue, Macroglossia |
ORPHA:95719 |
| White Forelock With Malformations |
|
Atrial septal defect |
ORPHA:2475 |
| Carpenter Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Obesity, Joint contracture o... |
OMIM:201000 |
| Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Facial edema, ... |
ORPHA:319213 |
| Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Malabsorption, Dehydration, Weight loss, Failure to thrive |
ORPHA:33355 |
| Athyreosis |
|
Fatigue, Macroglossia |
ORPHA:95713 |
| Chime Syndrome |
|
Ventricular septal defect, Abnormal dental morphology, Abnormality of the dentition, Supernumerar... |
ORPHA:3474 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect |
ORPHA:521308 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Hypoplastic left heart, Aortic valve stenosis, Atrial septal defect, Mitral stenosis, Unilateral ... |
OMIM:617660 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Ataxia, Clonus, Achilles tendon contracture, Babinski sign, Patent ductus a... |
OMIM:618076 |
| Trisomy 13 |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:3378 |
| Verheij Syndrome |
|
Small for gestational age, Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Telangiectasia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma, Ac... |
OMIM:278720 |
| Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypoplasia of the musculature, Abnormality of the dentition, Spleno... |
ORPHA:231226 |
| Hereditary Angioedema Type 1 |
|
Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal... |
ORPHA:100050 |
| Recombinant 8 Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Pul... |
ORPHA:96167 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Per... |
OMIM:613001 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Coarctation of aorta |
OMIM:163200 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Aminoaciduria, Weight loss |
ORPHA:79238 |
| Relapsing Fever |
|
Fatigue, Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Abdominal... |
ORPHA:91547 |
| Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Tracheoesophageal fistula, Weight loss, Neoplasm of the lung, Ma... |
ORPHA:142 |
| Insulin-Like Growth Factor I, Resistance To |
|
Ventricular septal defect, Truncal obesity, Decreased body weight, Atrial septal defect, Patent f... |
OMIM:270450 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Hyperkalemia, Dehydration, Weight loss, Hypovolemic s... |
ORPHA:171876 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... |
OMIM:222470 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Palmoplantar hyperkeratosis, Telangiectasia, Dystrophic fingernails, Dystro... |
ORPHA:158673 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Secundum atrial septal defect, Lower limb spasticity, Failure to thrive, Small for gestational age |
OMIM:620194 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Myositis, Renal insufficiency, Pneumonia, Edema, Elevated circulating creatin... |
ORPHA:36234 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
| Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Small for gestational age, Abnormal cardiac ventricle morphology, Flexio... |
ORPHA:284979 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Esophageal varix, Hypercholesterolemia |
ORPHA:75234 |
| Stankiewicz-Isidor Syndrome |
|
Patent ductus arteriosus, Cryptorchidism, Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Fatigue, Hepatomegaly |
OMIM:618549 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Acrokeratosis, Narrow mouth, Fibroadenoma of the breast, Breast carcinoma, C... |
OMIM:158350 |
| Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Exercise intolerance, Fatigue, Ataxia, Gait ataxia, Myopathy |
OMIM:613077 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow |
ORPHA:3406 |
| Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Decreased body weight |
OMIM:609053 |
| 17Q12 Microduplication Syndrome |
|
Atrial septal defect |
ORPHA:261272 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid c... |
OMIM:615751 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Carious... |
ORPHA:1328 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Esophageal stenosis, Downturned corners of mouth, Hyperkeratosis, Short ... |
OMIM:615510 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Interrupted aortic arch, Limb hypertonia |
OMIM:616920 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Dehydration, Sex reversal, Increased circulating renin level, Ambiguous genit... |
ORPHA:168558 |
| Acetazolamide-Responsive Myotonia |
|
Myotonia, Skeletal muscle hypertrophy, Chest pain, Hypertonia, Myalgia, Gait disturbance |
ORPHA:99736 |
| Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect |
OMIM:618354 |
| Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... |
OMIM:148500 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent ductus arteriosus, Atr... |
OMIM:244300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism, Ventricular septal defect, Flexion contracture, Ascending tubular aorta aneurysm,... |
OMIM:309520 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Percussion myotonia, Skeletal muscle hypertrophy, Myotonia with warm-up phenomenon, Mya... |
OMIM:255700 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Telangiectasia |
OMIM:278740 |
| Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Elevated circulating alpha-fetoprotein concentration, Tremor, Patent ductus arteriosus, Hydrocele... |
ORPHA:280633 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Thick lower lip vermilion, Wide mouth, Downturned corners of mouth, Everted lower lip v... |
ORPHA:2058 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Eruption failure, Multiple lipomas, Pap... |
OMIM:175100 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Hydrocele testis, Patent foramen ovale |
OMIM:618832 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Cerebral palsy, Small thenar eminence, Hypertonia, Joint contracture of the 4th finger, Joint con... |
OMIM:618914 |
| Irida Syndrome |
|
Hyperkeratosis, Decreased circulating copper concentration, Abnormal intestine morphology, Ichthy... |
ORPHA:209981 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Alopecia, Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonem... |
OMIM:210210 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Arterial rupture |
OMIM:619115 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria, Lethargy, Cerebral edema |
OMIM:201450 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Congestive heart failure, Flexion contracture, Recurrent pneumonia, Dehydration, ... |
OMIM:616271 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Dehydration, Hyponatremia, H... |
ORPHA:90794 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Dehydration, Sex reversal, Increased circulating renin level, Ambiguous genit... |
ORPHA:289548 |
| Sickle Cell Disease |
|
Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Hypertension, Stroke, Priapism |
OMIM:603903 |
| Acute Adrenal Insufficiency |
|
Fatigue, Hyponatremia, Orthostatic hypotension, Decreased female libido, Hypercalcemia, Myocardia... |
ORPHA:95409 |
| Lymphatic Malformation 13 |
|
Patent ductus arteriosus, Hydrocele testis, Mitral regurgitation, Neonatal death, Atrial septal d... |
OMIM:620244 |
| Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
| Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Spastic diplegia, Camptodactyly |
OMIM:619980 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Cryptorchidism, Hypocalcemia, Interrupted aortic arch, Pulmonary arter... |
OMIM:192430 |
| Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Lymphoma, Weight loss, Hypophosphatemia, Protein-losing enteropat... |
ORPHA:398063 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Diaphragmatic eventration, Ventricular septal defect, Aortopulmonary collateral art... |
OMIM:620025 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Renal insufficiency, Abnormality of the dentition, Dehydration,... |
ORPHA:313 |
| Houge-Janssens Syndrome 1 |
|
Fatigue, Congenital muscular torticollis, Facial hypotonia, Gait ataxia |
OMIM:616355 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:616901 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Dehydration, Increased circulating renin level, Hypotension |
OMIM:620125 |
| Post-Traumatic Pituitary Deficiency |
|
Fatigue, Hypogonadotropic hypogonadism, Infertility, Hypotension, Decreased testicular size, Amen... |
ORPHA:95619 |
| Aicardi-Goutières Syndrome |
|
Myositis, Extrapyramidal muscular rigidity, Multiple joint contractures, Dystonia, Cardiomegaly, ... |
ORPHA:51 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly... |
OMIM:235255 |
| Congenital Analbuminemia |
|
Fatigue, Miscarriage, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globuli... |
ORPHA:86816 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Inability to walk, High nonceruloplasmin-bound serum copper, Limb dystonia, Atrial septal defect,... |
ORPHA:457351 |
| Familial Cold Urticaria |
|
Fatigue, Abdominal pain, Dysesthesia, Arthralgia, Myalgia |
ORPHA:47045 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Brain neoplasm, Elevated carcinoma antigen 125 level, Elev... |
ORPHA:370348 |
| Malignant Peritoneal Mesothelioma |
|
Ileus, Pedal edema, Weight loss, Neoplasm, Ascites |
ORPHA:168811 |
| Monosomy 13Q34 |
|
Metrorrhagia, Epistaxis, Hypercalcemia, Obesity, Hematochezia, Pulmonic stenosis, Common atrium |
ORPHA:96168 |
| Myhre Syndrome |
|
Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Thickene... |
ORPHA:2588 |
| Zaki Syndrome |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Unsteady gait, Hypertonia, Patent fora... |
OMIM:619648 |
| Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Primary testicular failure, Hypercalcemia, Sparse axillary... |
ORPHA:85138 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Congenital contracture, Atrial septal defect, Pulmonary arterial hypert... |
ORPHA:261279 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:618282 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thriv... |
OMIM:210200 |
| Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
| Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
| Creatine Phosphokinase, Elevated Serum |
|
Fatigue, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morphology, My... |
OMIM:123320 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P... |
OMIM:619208 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect, Poor coordination, Failure to thrive, Poor fine motor coordination |
OMIM:620242 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Bicarbonat... |
OMIM:229600 |
| Infant Botulism |
|
Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension, Dysphagia |
ORPHA:178478 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Ataxia |
OMIM:614424 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Hypercalcemia, Malabsorptio... |
ORPHA:97282 |
| Sotos Syndrome |
|
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, Poor coordination,... |
OMIM:117550 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Thickened skin, Hyperkeratosis, Basal cell carcinoma, Squamou... |
ORPHA:79431 |
| Postpoliomyelitis Syndrome |
|
Fatigue, Skeletal muscle atrophy, Arthralgia, Myalgia, Fasciculations, Pain |
ORPHA:2942 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Failure to thrive in infancy, Hypoplasia of the musculature, Abnormality of the den... |
ORPHA:231214 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Fatigue, Torticollis, Ataxia, Tremor, Rigidity, Tetraparesis, Death in childhood |
OMIM:617186 |
| Distal Deletion 10Q |
|
Scapular winging, Ataxia, Clonus, Oculomotor apraxia, Unsteady gait, Patent ductus arteriosus, Po... |
ORPHA:96148 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Pleural thickening, Hydroce... |
OMIM:620014 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Hyperkeratosis, Adenocarcin... |
OMIM:620189 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Alopecia... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Alopecia... |
ORPHA:363958 |
| Mckusick-Kaufman Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Tetralogy of Fallot, Hypopla... |
ORPHA:2473 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstruction, Centrally nucleated ske... |
OMIM:607459 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, External genital hypoplasia, Hypergranulosis, Abnormal hair morphology, Hyperkeratosis,... |
OMIM:242100 |
| Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
| De Barsy Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypop... |
ORPHA:2962 |
| Cat Eye Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm... |
OMIM:115470 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lymphedema, Lip tela... |
ORPHA:79280 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Spasticity, Ventricular septal defect, Involuntary movements |
OMIM:618325 |
| Bathing Suit Ichthyosis |
|
Eclabion, Alopecia, Parakeratosis, Multiple joint contractures, Thickened skin, Palmoplantar hype... |
ORPHA:100976 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fatigue, Elevated circulating C-reactive protein concentration, Vasculitis, Bone pain, Weight loss |
ORPHA:324964 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Prema... |
OMIM:617341 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kinase concentration, R... |
ORPHA:466650 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Nail dystrophy |
ORPHA:89843 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Splenomegaly, Hydrops fetalis, Weight loss, Hepatosplenomegaly, Microp... |
OMIM:613673 |
| Insulin Autoimmune Syndrome |
|
Acanthosis nigricans, Weight loss |
ORPHA:411593 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Esophageal spasms, Proteinuria, Myocardial infarction, Pulm... |
ORPHA:447 |
| Encephalitis Lethargica |
|
Upper limb muscle weakness, Lethargy, Urinary incontinence, Bradycardia |
ORPHA:83600 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Dilation of Virchow-Robin spaces, Bicuspid aortic valve, Flexion contracture, Atrial septal defec... |
OMIM:619720 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Babinski sign, Hypertonia, Pulmonic steno... |
OMIM:615802 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ... |
OMIM:607626 |
| Trichinellosis |
|
Facial palsy, Edema, Facial edema, Periorbital edema, Retinal hemorrhage, Apathy, Dysphagia, Leth... |
ORPHA:863 |
| Pituicytoma |
|
Fatigue, Decreased female libido, Hypogonadotropic hypogonadism, Impotence, Amenorrhea |
ORPHA:251623 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Distal lower limb amyotrophy, Alopecia, Oral mucosal blisters, Palmoplantar keratoderma, Squamous... |
ORPHA:79396 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology, Skeletal muscle atrophy, Short hard palate, Cachexia |
ORPHA:1969 |
| Oculocutaneous Albinism Type 1B |
|
Hypopigmentation of hair, Albinism, Thickened skin, Melanoma, Basal cell carcinoma, Squamous cell... |
ORPHA:79434 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Impaired pain sensation, Cryptorchidism, Abnorm... |
ORPHA:453499 |
| Buratti-Harel Syndrome |
|
Atrial septal defect, Cryptorchidism, Dilation of Virchow-Robin spaces |
OMIM:619314 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Glycosuria |
OMIM:618857 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Portal hypertension,... |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Dysphagia, Hyperkeratosis, Ichthyosis, Failure to thrive, Hypertrichosis |
OMIM:612379 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Abnormality of taste sensation, Facial palsy, Pneumonia, Respiratory tract i... |
ORPHA:68 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Thickened skin, Thick lower lip v... |
ORPHA:2135 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, High-output congestive heart failure, Splenomegaly, Hepatosplenomegaly, Proximal tu... |
ORPHA:231222 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Fatigue, Splenomegaly |
ORPHA:231401 |
| Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
| Orotic Aciduria |
|
Atrial septal defect, Failure to thrive, Ventricular septal defect |
OMIM:258900 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Aortopulmonary collateral arteries, Tremor, Cryptorchidism, Tip-... |
OMIM:617557 |
| Glucagonoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Intestinal obstruction, Hepatomegaly, Stom... |
ORPHA:97280 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Carotid artery stenosis, Cryptorchidism, Mitral valve prolapse, Aort... |
OMIM:618000 |
| Shashi-Pena Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Dilation of Virchow-Robin spaces, Limb hypertonia |
OMIM:617190 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Abnormality of the dentition, ... |
ORPHA:910 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Spastic tetraplegia, Macroglossia,... |
OMIM:230000 |
| Pallister-Hall Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Preductal coarctation of the... |
OMIM:146510 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Fatigue, Cryptorchidism, Failure to thrive, Flexion contracture |
ORPHA:98791 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Enlarged kidney, Ure... |
OMIM:314390 |
| Episodic Ataxia Type 1 |
|
Myotonia, Poor coordination, Clumsiness, Choreoathetosis, Calf muscle hypertrophy, Hypertonia, Ti... |
ORPHA:37612 |
| Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
| Grfoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Intestinal obstruction, Hepatomegaly, Hype... |
ORPHA:97261 |
| Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Emphysema, Bronchiectasis, Weight loss |
ORPHA:1164 |
| Myotonia Permanens |
|
Myotonia, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Chest pain, Hypertonia, My... |
ORPHA:99735 |
| Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri... |
ORPHA:1335 |
| Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss |
ORPHA:160148 |
| Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Splenomegaly, Congestive heart failure, Myopathy, Failure to thrive, Oli... |
OMIM:615512 |
| Bethlem Myopathy |
|
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... |
ORPHA:610 |
| Odontoonychodermal Dysplasia |
|
Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Hypergranulosis, Sparse eyebrow,... |
OMIM:257980 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Heart murmur, Intracranial h... |
ORPHA:163979 |
| Chromosome 10Q26 Deletion Syndrome |
|
Scapular winging, Broad-based gait, Small for gestational age, Cryptorchidism, Patent ductus arte... |
OMIM:609625 |
| Zollinger-Ellison Syndrome |
|
Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro... |
ORPHA:913 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal, Palmoplantar keratoderma, Squamous cell carcinoma of the skin |
ORPHA:85112 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Aphthous ulcer, Ulcerative colitis, Weight loss, Inflammation of the larg... |
OMIM:266600 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Fatigue, Low back pain, Elevated circulating C-reactive protein concentration, Abdominal pain, Fl... |
ORPHA:49041 |
| Chromosome 9P Deletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Enlarged labia minora, Gingival fibromatosis, Narrow palate, Telangiec... |
OMIM:266270 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Anal fissure, Perianal dermatitis, Horizontal eyebrow, Recurrent gastroenteritis, Le... |
ORPHA:294023 |
| Wiedemann-Steiner Syndrome |
|
Broad-based gait, Contracture of the distal interphalangeal joint of the fingers, Patent ductus a... |
OMIM:605130 |
| Floating-Harbor Syndrome |
|
Cryptorchidism, Coarctation of aorta, Atrial septal defect, Mesocardia, Persistent left superior ... |
OMIM:136140 |
| Immunodeficiency 97 With Autoinflammation |
|
Fatigue, Hypertriglyceridemia, Abdominal pain, Splenomegaly, Increased circulating ferritin conce... |
OMIM:619802 |
| Myotonia, Potassium-Aggravated |
|
Handgrip myotonia, Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinase concen... |
OMIM:608390 |
| Pediatric Hepatocellular Carcinoma |
|
Fatigue, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Epig... |
ORPHA:33402 |
| Pde4D Haploinsufficiency Syndrome |
|
Thin upper lip vermilion, Hypospadias, Abnormal dental enamel morphology, Cryptorchidism, Obesity... |
ORPHA:439822 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Diastasis recti, Cardiomegaly, Adrenocortical car... |
OMIM:130650 |
| Noonan Syndrome 3 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valve prolapse, Pulmo... |
OMIM:609942 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations |
OMIM:188580 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, P... |
ORPHA:116 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Lymphoproliferative disorder, Portal hypertension, Elevated circulating C-reactive ... |
OMIM:615688 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Hyperparakeratosis, Periorificial hyperkeratosis, Orthok... |
OMIM:614594 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Sudden death, Aortic rupture, Ascending aortic dissection, Aortic a... |
OMIM:613780 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Parakeratosis, Unilateral renal agenesis, Cleft upper lip, Elevated 8-dehydrocholestero... |
OMIM:308050 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Mitral valve calcification, Recurrent respiratory infections, Hypoplasi... |
OMIM:182250 |
| Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
| Isolated Agammaglobulinemia |
|
Fatigue, Failure to thrive |
ORPHA:229717 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Fatigue, Elevated circulating C-reactive protein concentration, Arthralgia, Myalgia, Chills |
OMIM:120100 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ventricular septal defect, Ataxia, Overweight, Tremor, Inability to walk, ... |
OMIM:619229 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Protein-losing enteropathy, Hepatoblastoma, Hyponatremia, Portal hypertension, Oliguria, Hepatosp... |
ORPHA:731 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Intracranial hemorrhage, Arthralgia, Asthenia, M... |
ORPHA:324636 |
| Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Ventricular septal defect, Unilateral cryptorchidism, Bilateral cryptorchidism, Inability to walk... |
OMIM:613457 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
| Lyme Disease |
|
Fatigue, Atrioventricular block, Arthralgia, Myalgia, Paresthesia, Arrhythmia |
ORPHA:91546 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Aortic root aneurysm, Mitral valve prolapse |
ORPHA:449291 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur, Cryptorchidism |
ORPHA:166035 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... |
ORPHA:141127 |
| Ppoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Intestinal obstruction, Hepatomegaly, Hype... |
ORPHA:97278 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Lymphatic Malformation 4 |
|
Hydrocele testis, Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
| Coffin-Siris Syndrome 7 |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
OMIM:618027 |
| Genetic Transient Congenital Hypothyroidism |
|
Macroglossia, Increased circulating thyroglobulin level, Lethargy, Edema |
ORPHA:226316 |
| Satoyoshi Syndrome |
|
Fatigue, Amenorrhea, Mildly elevated creatine kinase, Skeletal muscle hypertrophy |
OMIM:600705 |
| Cryptogenic Organizing Pneumonia |
|
Fatigue, Elevated circulating C-reactive protein concentration, Night sweats, Weight loss, Chest ... |
ORPHA:1302 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Patent foramen ovale |
OMIM:620075 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
| Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypocalcemia, Interrupted ao... |
OMIM:300712 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Fatigue, Asthenia |
OMIM:618107 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Myotonia, Elevated circulating creatine kinase concentration, Flexion co... |
OMIM:310440 |
| Char Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Spasticity, Ventricular septal defect |
OMIM:616449 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
| Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Facial hypotonia, Cardiomegaly, Cleft lip, Synophrys, Medullobl... |
ORPHA:97297 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Fatigue, Increased circulating ferritin concentration, Hepatosplenomegaly, Azoospermia, Increased... |
ORPHA:300298 |
| 7Q31 Microdeletion Syndrome |
|
Speech apraxia, Skeletal muscle atrophy, Torticollis, Patent ductus arteriosus after birth at ter... |
ORPHA:251061 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Oroticacidur... |
OMIM:311250 |
| Hydroxykynureninuria |
|
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... |
ORPHA:79155 |
| Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Hyperkeratosis, Ichthyosis |
ORPHA:461 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Aortic root aneurysm, Mitral valve prolapse |
OMIM:130000 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Abnormality of the pulmonary ar... |
ORPHA:261537 |
| Cardioacrofacial Dysplasia 2 |
|
Common atrium, Atrioventricular canal defect, Left superior vena cava draining to coronary sinus |
OMIM:619143 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Large for gestational age, Tremor, Patent ductus arteriosus, Cho... |
OMIM:614080 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Cardiac arrest, Enanthema, Myocarditis, Angioedema, Weight loss, Tubulointer... |
ORPHA:139402 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal endocardium morphology, Recurrent respiratory infections, Abnormal dental enamel morphol... |
ORPHA:1334 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Ataxia, Pulmonary artery sling,... |
ORPHA:2152 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia |
ORPHA:1908 |
| Mercury Poisoning |
|
Tachycardia, Hypertension, Interstitial pneumonitis, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
| Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Increase... |
ORPHA:812 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Camptodactyly |
ORPHA:459061 |
| Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating fatty-acid concentration, Insulin resistance, Fasting hyperinsulinemia, Insu... |
ORPHA:2298 |
| Ebola Hemorrhagic Fever |
|
Melena, Lethargy, Gastrointestinal hemorrhage, Dysphagia |
ORPHA:319218 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Failure to thrive in infancy, Recurrent pneumonia, Bronchiectasis, Hyperkerat... |
OMIM:301220 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Atrichia, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, ... |
OMIM:308205 |
| Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
| Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Ataxia, Tremor, Obesity, Gait imbalance |
OMIM:619312 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Inability to walk, Difficulty walking, Left superior vena cava drainin... |
ORPHA:464738 |
| Thyrotoxic Periodic Paralysis |
|
Myotonia, Tremor, Impaired myocardial contractility, Respiratory paralysis, Periodic hypokalemic ... |
ORPHA:79102 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Secundum atrial septal defect |
ORPHA:96190 |
| Kabuki Syndrome 1 |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Coarctation of aorta |
OMIM:147920 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Polyhydramnios, Oral mucosal blisters, Elevated maternal serum alpha-fetoprotein, Esophageal atre... |
OMIM:226730 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial stenosis, Truncal obesi... |
ORPHA:2637 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Flexion contracture, Abnormality of the pulmonary ar... |
ORPHA:261552 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductu... |
OMIM:612562 |
| Fanconi Anemia |
|
Neoplasm, High palate, Abnormality of the uterus, Atrial septal defect, Hypospadias, Myelodysplas... |
ORPHA:84 |
| Acquired Methemoglobinemia |
|
Fatigue, Tachycardia, Abdominal pain, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Gingivitis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Joint c... |
OMIM:614457 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... |
OMIM:235510 |
| Cinca Syndrome |
|
Fatigue, Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Arthr... |
ORPHA:1451 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar... |
ORPHA:2463 |
| Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Abnormal dental morphology, Abnormality of the dentiti... |
ORPHA:238468 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Intestinal obstruction, Hepatomegaly, Hype... |
ORPHA:97283 |
| 19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Portal hypertension, Situs inversus totalis, Splenomegaly, Patent ductus arteriosus... |
OMIM:208540 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Cryptorchidism, Oral ulcer, Downturned corners of mouth, Hyperkeratosis, ... |
OMIM:617052 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
| Marfan Syndrome |
|
Aortic regurgitation, Pulmonary artery dilatation, Decreased muscle mass, Tricuspid regurgitation... |
OMIM:154700 |
| Alazami Syndrome |
|
Atrial septal defect |
ORPHA:319671 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Pneumonia, Edema, Pericardial effusion, Hematemesis, Splenomega... |
OMIM:615846 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Rere-Related Neurodevelopmental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypogonadotropic hypogonadism, Overweight, Facial edema, Macroglossia, Bradycardia, Lethargy, Abn... |
ORPHA:226307 |
| Paramyotonia Congenita |
|
Handgrip myotonia, Percussion myotonia, Skeletal muscle hypertrophy, Paradoxical myotonia, Myalgia |
OMIM:168300 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong... |
OMIM:602400 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Fatigue, Small for gestational age, Increased body weight |
OMIM:274300 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Hypokalemia, Myotonia, Periodic paralysis |
OMIM:170400 |
| Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormality of the dentition, Abnor... |
ORPHA:573 |
| Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
| Adiposis Dolorosa |
|
Fatigue, Telangiectasia of the skin, Obesity, Arthralgia, Paresthesia |
ORPHA:36397 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Fatigue, Increased serum prostaglandin E2, Hypokalemia, Increased circulating renin level, Abnorm... |
OMIM:241150 |
| Acute Radiation Syndrome |
|
Hyperkeratosis, Interstitial pneumonitis, Hypotension, Telangiectasia |
ORPHA:454831 |
| Macs Syndrome |
|
Fatigue, Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism, Cryptorchidism, Decrea... |
OMIM:613075 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin, Telangiectasia |
OMIM:278700 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Bowel incontinence, Ocu... |
ORPHA:261330 |
| Cold Agglutinin Disease |
|
Fatigue, Hepatomegaly, Back pain, Splenomegaly, Arthralgia |
ORPHA:56425 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Atrial septal defect, Cryptorchidism, Heart murmur |
ORPHA:2728 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate... |
OMIM:115310 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Decreased retinol-binding protein level, Follicular hyperkeratosis |
OMIM:615147 |
| Hypomandibular Faciocranial Dysostosis |
|
Atrial septal defect, Death in infancy, Patent ductus arteriosus |
ORPHA:1790 |
| 8P11.2 Deletion Syndrome |
|
Hypogonadotropic hypogonadism, Splenomegaly, Patent ductus arteriosus, Cryptorchidism, Mitral val... |
ORPHA:251066 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypokalemia, Hypotension, Decreased urinary potassium |
OMIM:611489 |
| Nicolaides-Baraitser Syndrome |
|
Cryptorchidism, Failure to thrive, Coarctation of aorta, Gait ataxia |
OMIM:601358 |
| Chromosome 17Q12 Duplication Syndrome |
|
Atrial septal defect, Facial hypotonia |
OMIM:614526 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Camptodactyly, Atrioventricular can... |
OMIM:619123 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Joint contracture, Failure to thrive, Patent ductus arteriosus |
OMIM:618005 |
| Pseudomyxoma Peritonei |
|
Ascites, Intestinal obstruction, Weight loss, Inflammation of the large intestine |
ORPHA:26790 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Fetal Akinesia Deformation Sequence |
|
Multiple joint contractures, Camptodactyly of finger, Akinesia, Cryptorchidism, Generalized amyot... |
ORPHA:994 |
| Noonan Syndrome 13 |
|
Atrial septal defect, Cryptorchidism, Mitral regurgitation, Mitral valve prolapse |
OMIM:619087 |
| Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Dystonia, Cardiac arrest, Akinesia, Flexion contracture, Elbow flexion contract... |
OMIM:618947 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Dental crowding, Congestive heart failure, Recurrent pneumonia, Arte... |
OMIM:225400 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Neurogenic bladder, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans |
OMIM:618527 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Camptodactyly of finger, Carious teeth, Hyperkeratosis, Coarse hair, Joint contract... |
ORPHA:1883 |
| White-Sutton Syndrome |
|
Waddling gait, Facial hypotonia, Congenital diaphragmatic hernia, Patent ductus arteriosus, Obesi... |
OMIM:616364 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Broad-based gait, Bicuspid aortic valve, Ventricular septal defect,... |
ORPHA:438213 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Polyhydramnios, Large for gestat... |
OMIM:229850 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration... |
OMIM:612852 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Cardiomegaly, High, narrow palate, Hydrops fetalis, Broad secondary alveolar ridg... |
ORPHA:3472 |
| Refractory Anemia |
|
Fatigue, Abnormal cardiac ventricular function |
ORPHA:98826 |
| Non-Functioning Pituitary Adenoma |
|
Fatigue, Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Fe... |
ORPHA:91349 |
| Pallister-Hall Syndrome |
|
Ventricular septal defect, Large for gestational age, Cryptorchidism, Patent ductus arteriosus, C... |
ORPHA:672 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal aortic arch morphology, Abnormal cardia... |
ORPHA:2059 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropathy |
ORPHA:100024 |
| Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Elevated circulating creatine ... |
OMIM:164310 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Dystonia, Cardiomegaly, Tetraplegia, Hepatosplenomegaly, M... |
OMIM:618278 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Hypercalcemi... |
ORPHA:97289 |
| Prolactinoma |
|
Fatigue, Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism... |
ORPHA:2965 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect |
OMIM:611926 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Abnormal circulating protein concentration, Membranoproliferative glomerulon... |
ORPHA:48435 |
| 16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Hypertonia, Atrial septal defect |
ORPHA:261236 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Tetrasomy 9P |
|
Myositis, Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Micropenis, ... |
ORPHA:3310 |
| Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Foot joint contracture, Cryptorchidism, Mitral valve prolapse, Ascendi... |
ORPHA:444072 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Hypogonadism, Generalized ichthyo... |
ORPHA:2269 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Ataxia, Cardiomegaly, Inability to walk, Cryptorchidis... |
OMIM:618143 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Raynaud phenomenon, Respiratory tract infection, Bronchie... |
ORPHA:79128 |
| Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... |
ORPHA:99776 |
| Chronic Graft Versus Host Disease |
|
Flexion contracture, Xerostomia, Gastroesophageal reflux, Alopecia, Thickened skin, Bronchiectasi... |
ORPHA:99921 |
| Pagod Syndrome |
|
Death in infancy, Congenital diaphragmatic hernia, Sudden cardiac death, Situs inversus totalis, ... |
ORPHA:991 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Functioning Gonadotropic Adenoma |
|
Fatigue, Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycl... |
ORPHA:91348 |
| Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Myocardial infarction, Intracranial hemorrhage, High pal... |
ORPHA:740 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Homocystinuria, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to th... |
ORPHA:395 |
| Acute Promyelocytic Leukemia |
|
Fatigue, Metrorrhagia, Epistaxis, Diffuse alveolar hemorrhage, Abdominal pain, Bone pain, Weight ... |
ORPHA:520 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Failure to thrive, Ventricular septal defect, Cryptorchidism, Patent ductus arterio... |
OMIM:214100 |
| Eec Syndrome |
|
Slow-growing hair, Abnormal dental enamel morphology, Hypospadias, Sparse eyebrow, Carious teeth,... |
ORPHA:1896 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect |
ORPHA:79113 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Spleno... |
OMIM:612541 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Transverse vaginal septum, Anterio... |
OMIM:604292 |
| Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... |
OMIM:617337 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Hyponatremia |
OMIM:608688 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugat... |
OMIM:619662 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Endocardial fibroelastosis |
OMIM:276822 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
| Senior-Boichis Syndrome |
|
Portal hypertension, Chronic kidney disease, Esophageal varix, Renal hypoplasia, Stage 5 chronic ... |
ORPHA:84081 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia, Spasticity, Spastic diplegia |
ORPHA:93947 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis... |
ORPHA:1655 |
| Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... |
OMIM:100300 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Celiac disease, Lymphoma, Weight loss, Depression, Recurrent aphthous stomatitis, Hypoc... |
OMIM:212750 |
| 7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... |
ORPHA:96121 |
| Glucocorticoid Resistance, Generalized |
|
Fatigue, Hypertension, Irregular menstruation, Infertility |
OMIM:615962 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Abnormal lung morphology, Decreased retino... |
ORPHA:449395 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Pulmonary artery atresia, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:620113 |
| Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Pulmonary artery stenosis, Unilateral v... |
OMIM:301030 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
| Prolidase Deficiency |
|
Hepatomegaly, Recurrent respiratory infections, Carious teeth, Splenomegaly, Low anterior hairlin... |
ORPHA:742 |
| Tarp Syndrome |
|
Broad-based gait, Cryptorchidism, Tetralogy of Fallot, Atrial septal defect, Athetoid cerebral pa... |
ORPHA:2886 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegal... |
ORPHA:53035 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Progressive flexion contractures, Chorea, Choreoathetosis, Hyperkinetic movements, Hemiba... |
ORPHA:522077 |
| Feingold Syndrome Type 1 |
|
Renal insufficiency, Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Gastrointestinal at... |
ORPHA:391641 |
| Amyotrophic Lateral Sclerosis |
|
Fatigue, Skeletal muscle atrophy, Paralysis, Pain, Spasticity |
ORPHA:803 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Dysuria, Malabsorption, Nephropathy, Cardiomyopathy, Myopathy, Gastr... |
ORPHA:3463 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:52055 |
| Secondary Intestinal Lymphangiectasia |
|
Fatigue, Abdominal colic, Right ventricular failure, Reduced circulating transferrin concentratio... |
ORPHA:90363 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Neoplasm, Adenoma sebaceum, Papilloma |
ORPHA:493 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Pulmo... |
OMIM:610759 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Atrial septal defect, Wrist flexion contracture, Peripheral pulmonary artery stenosis |
ORPHA:436003 |
| Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Splenomegaly, Hyperammonemia, Organic aciduria, Lethargy |
OMIM:253260 |
| Cockayne Syndrome Type 3 |
|
Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Unsteady gait, Subdural hemorrhage, Retinal ... |
ORPHA:90324 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Episodic Ataxia, Type 2 |
|
Myotonia, Progressive cerebellar ataxia, Paresthesia, Dystonia, Episodic ataxia |
OMIM:108500 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Ataxia, Akinesia, Tremor, Inability to walk, Flexion contrac... |
ORPHA:86309 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Scapular winging, Aortic root aneurysm, Mitral valve prolapse |
OMIM:616914 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:65682 |
| Oligomeganephronia |
|
Pulmonary venous occlusion, Small for gestational age, Congenital diaphragmatic hernia, Secundum ... |
ORPHA:2260 |
| Thanatophoric Dysplasia Type 1 |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:1860 |
| Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part... |
OMIM:190685 |
| Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidi... |
ORPHA:261344 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Elevated circulating creatinine concentration, Weight loss, Hematuria, Pulmonary ven... |
ORPHA:90060 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Renal salt wasting, Elevated circulat... |
OMIM:174000 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Failure to thrive, Congenital muscular torticollis, Multicystic kidney dysplasia, I... |
ORPHA:2538 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins |
OMIM:618021 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia, Carotid artery stenosis, Impaired temperature sensation, Pericardial effusi... |
ORPHA:536532 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Pancreatoblastoma, Pituitary co... |
ORPHA:99889 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular block, Coarse hair, Aspiration pne... |
ORPHA:581 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
| C Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Failure to thrive |
OMIM:211750 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Fatigue, Tachycardia, Arthralgia, Increased total bilirubin |
ORPHA:90036 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Peripheral pulmonary artery stenosis |
OMIM:614749 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Distal amyotrophy, Gastroesophageal reflux, Foot dorsiflexor weakness |
ORPHA:36386 |
| Mgat2-Cdg |
|
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Reflex asystolic ... |
ORPHA:79329 |
| Progeroid Short Stature With Pigmented Nevi |
|
Irregular dentition, Small for gestational age, Bicuspid aortic valve, Hypospadias, Chordee, Aort... |
OMIM:176690 |
| Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Cryptorchidism, Obesity, Anoma... |
OMIM:616368 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Moderate albuminuria, Hypovolemia, Dehydration, Weight loss, Downturned corners of mou... |
ORPHA:99885 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Atrial septal defect, Arrhythmia, Patent foramen ovale |
OMIM:619184 |
| Zellweger Syndrome |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Cryptorchidism, Failure to thrive |
ORPHA:912 |
| Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Cryptorchidism, Coronar... |
OMIM:614294 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Patent foramen ovale, Spastic tetraparesis |
OMIM:619179 |
| Botulism |
|
Fatigue, Cerebral palsy, Abdominal pain, Diaphragmatic paralysis, Arrhythmia |
ORPHA:1267 |
| Alexander Disease |
|
Facial palsy, Sudden cardiac death, Precocious puberty, Depression, Hypertension, High palate, Hy... |
ORPHA:58 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect, Reduc... |
OMIM:619608 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... |
OMIM:277410 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pneumothorax, Bronchiectasis, Weight loss, Pleural effusion |
ORPHA:411703 |
| Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
| Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteriosus, Aplasia of th... |
OMIM:142900 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Dental crowding, Fetal ascites, Synophrys, Deep philtrum, Flexion contracture, Knee flexion contr... |
OMIM:619503 |
| Somatomammotropinoma |
|
Fatigue, Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Hypertension, Mitral regurg... |
ORPHA:314769 |
| Vexas Syndrome |
|
Fatigue, Elevated circulating C-reactive protein concentration, Night sweats, Arthralgia, Arteritis |
OMIM:301054 |
| Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly |
OMIM:617360 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Obesity, Abnormal heart morphology... |
ORPHA:369837 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hyd... |
OMIM:253270 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Hypogonadism, Squamous cell carcinoma of the skin, Cutaneous mela... |
OMIM:610651 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Small for gestational age, Valvular pulmonary stenosis, Atrial septal defe... |
OMIM:300707 |
| Renal Tubular Dysgenesis |
|
Anuria, Pulmonary hypoplasia, Hypotension, Oligohydramnios |
OMIM:267430 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Facial palsy, Dysphagia |
OMIM:607483 |
| Nocardiosis |
|
Fatigue, Pericarditis, Abnormal heart valve morphology, Ocular pain, Night sweats, Endocarditis, ... |
ORPHA:31204 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Macroglossia, Bradycardia, Hyperbilirubinemia, Lethargy |
OMIM:218700 |
| Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... |
OMIM:619268 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Fatigue, Abnormal circulating protein concentration, Weight loss, Chest pain, Foam cells |
ORPHA:747 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Fatigue, Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Re... |
ORPHA:230 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Fatigue, Hyponatremia, Abdominal pain, Myocarditis, Hyperkalemia, Hemiparesis, Hypertension, Abdo... |
ORPHA:544482 |
| Fetal Alcohol Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia |
ORPHA:1915 |
| Refractory Anemia With Excess Blasts |
|
Fatigue, Abnormal circulating protein concentration, Abnormal circulating albumin concentration, ... |
ORPHA:86839 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Alopecia, Alopecia totalis, Recurrent pharyngitis, Recurrent upper respiratory trac... |
ORPHA:293978 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fatigue, Hepatosplenomegaly, Chills, Weight loss |
ORPHA:86884 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Patent foramen ovale |
OMIM:614868 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal vena cava morpholog... |
ORPHA:163956 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
| Unclassified Myelodysplastic Syndrome |
|
Fatigue, Night sweats |
ORPHA:98827 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia, Hyperuricemia |
ORPHA:371 |
| Immunodeficiency 23 |
|
Somatic sensory dysfunction, Ataxia, Aortic root aneurysm, Vasculitis in the skin, Myoclonus, Fai... |
OMIM:615816 |
| Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Cardiomegaly, Abnormal retinal artery morphology, Medial ... |
ORPHA:51608 |
| Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Weight loss, Neoplasm of the lung, Pheochromocytoma, Dysphagia, ... |
ORPHA:1332 |
| Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Cryptorchidism, Patent ductus arteriosus, Failure to thrive |
OMIM:603467 |
| Acromegaly |
|
Fatigue, Cerebral palsy, Hypogonadotropic hypogonadism, Dysmenorrhea, Hypertension, Mitral regurg... |
ORPHA:963 |
| Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
| Congenital Isolated Acth Deficiency |
|
Fatigue, Hyponatremia, Hyperkalemia, Hypotension |
ORPHA:199296 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atria... |
OMIM:619534 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Epistaxis, Abdominal pain, Hematemesis, Myoca... |
ORPHA:73263 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Abnormal mitral valve morphology |
ORPHA:1292 |
| Congenital Disorder Of Glycosylation, Type If |
|
Flexion contracture, Renal cortical cysts, Hyperkeratosis, Thin vermilion border, Failure to thrive |
OMIM:609180 |
| Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
| Iatrogenic Botulism |
|
Fatigue, Orthostatic hypotension, Cerebral palsy, Diaphragmatic paralysis |
ORPHA:254509 |
| Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Phimosis, Carious teeth, Urethral... |
OMIM:173650 |
| Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Macroglossia, Pulmonic steno... |
OMIM:614609 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Bilateral cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
OMIM:300472 |
| Bohring-Opitz Syndrome |
|
Ventricular septal defect, Flexion contracture, Camptodactyly, Atrial septal defect, Failure to t... |
OMIM:605039 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Small scrotum, Small for gestational age, Intestinal malrotation, Portal hypertension, Esophageal... |
OMIM:613658 |
| Autosomal Agammaglobulinemia |
|
Fatigue, Failure to thrive |
ORPHA:33110 |
| Arteriosclerosis, Severe Juvenile |
|
Hypertension, Chronic kidney disease, Gastric ulcer, Myocardial infarction |
OMIM:208060 |
| Chronic Beryllium Disease |
|
Fatigue, Weight loss |
ORPHA:133 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal aortic arch morphology, Hypocalcemia, Atrial septal defect, Cryptorchidism, Patent ductu... |
ORPHA:567 |
| Primary Familial Polycythemia |
|
Fatigue, Arthralgia, Epistaxis, Abdominal pain |
ORPHA:90042 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Narrow mouth,... |
ORPHA:54028 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Unsteady gait, Ventricular septal defect, Involuntary movements |
OMIM:617798 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Fatigue, Venous insufficiency, Chorea, Aplasia/Hypoplasia of the abd... |
ORPHA:565 |
| Pallister-Killian Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Inability to walk, Patent ductus arte... |
OMIM:601803 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Elevated circulating C-reactive protein concentration, Furrowed tongue, Nail dystr... |
OMIM:614204 |
| Lateral Meningocele Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent d... |
OMIM:130720 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intestinal obstruction, Brea... |
ORPHA:1333 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:79345 |
| Postorgasmic Illness Syndrome |
|
Fatigue, Hypertension, Palpitations |
ORPHA:279947 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Xerostomia, Transverse vaginal septum, Oligodo... |
OMIM:129900 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Exercise-induced rhabdomyolysis, Parakeratosis, Hypercalcemia, Exercise-induced myoglobinuria, Ch... |
ORPHA:284426 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Small for gestational age, Cryptorchidism, Embryonal rhabdomyosarcoma, Tetraplegia, Pulmonic sten... |
OMIM:257300 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Oral leukoplakia, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Fatigue, Bone pain, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Supernumerary nipple, Conical tooth, Retinal hemorrhage, Fin... |
OMIM:308300 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Cryptorchidism, Ventricular septal defect |
OMIM:620073 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Arrhythmia, Tetralogy of Fallot |
OMIM:153400 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypoph... |
ORPHA:469 |
| Immunodeficiency 27A |
|
Pneumonia, Splenomegaly, Weight loss, Hepatosplenomegaly, Hypoalbuminemia |
OMIM:209950 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, B-cell lymphoma, Gastritis, Bronchitis, Pneumonia, Splenomegaly,... |
OMIM:619381 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma... |
OMIM:615023 |
| Holoprosencephaly |
|
Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Failure to thrive i... |
ORPHA:2162 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... |
OMIM:606545 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Decreased fertility |
OMIM:234050 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Hypokalemia, Weight loss |
OMIM:613239 |
| Hughes-Stovin Syndrome |
|
Fatigue, Pulmonary embolism, Vasculitis, Arterial stenosis, Chest pain, Pulmonary artery aneurysm... |
ORPHA:228116 |
| Ramos-Arroyo Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Severe failure to thrive, Decreased body weight |
ORPHA:1051 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Depression |
ORPHA:99832 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Methylmalonic aciduria, Failure to thrive, Lethargy |
OMIM:275350 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Aplasia of the pectoralis maj... |
ORPHA:3138 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Fatigue, Melena, Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pr... |
OMIM:619573 |
| Plague |
|
Fatigue, Hepatomegaly, Tachycardia, Abdominal pain, Hematemesis, Splenomegaly, Unsteady gait, Slu... |
ORPHA:707 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Fatigue, Hypertension, Abdominal obesity, Increased body weight |
OMIM:615954 |
| Alström Syndrome |
|
Abnormality of dental color, Urinary incontinence, Functional abnormality of the bladder, Hypopla... |
ORPHA:64 |
| Papa Syndrome |
|
Fatigue, Myositis, Arthralgia |
ORPHA:69126 |
| Hydranencephaly |
|
Lethargy, Dilatation of the ventricular cavity, Antenatal intracerebral hemorrhage |
ORPHA:2177 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Secundum atrial septal defect, Cryptorchidism, Dilation of Virchow-Robin spaces, Camptodactyly of... |
OMIM:619951 |
| Angiostrongyliasis |
|
Fatigue, Abdominal pain, Arthralgia, Myalgia, Paresthesia, Hyperesthesia, Neck pain, Pain |
ORPHA:74 |
| Muckle-Wells Syndrome |
|
Myalgia, Arthralgia, Chronic fatigue, Elevated circulating C-reactive protein concentration |
OMIM:191900 |
| 1Q21.1 Microdeletion Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic ... |
ORPHA:250989 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ich... |
OMIM:607602 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Somatic sensory dysfunction, Arterial diss... |
ORPHA:666 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Edema, Pedal edema, Aminoaciduria, Hypoalbumin... |
OMIM:277900 |
| Neurocardiofaciodigital Syndrome |
|
Small for gestational age, Patent ductus arteriosus, Tetralogy of Fallot, Double inlet left ventr... |
OMIM:619869 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Hypertonia, Unsteady gait, Failure to thrive, Ventricular septal defect |
OMIM:212066 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
| Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Ventricular septal defect, Cardiomyopathy, Macroglossia, Hypokalemia, Atrial se... |
ORPHA:769 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Cryptorchidism, Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Fatigue, Abdominal pain, Chylopericardium, Chest pain, Pulmonary lym... |
ORPHA:538 |
| Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure, Failure to thrive, Dysphagia |
ORPHA:94147 |
| Classical Ehlers-Danlos Syndrome |
|
Fatigue, Orthostatic hypotension, Arterial rupture, Mitral valve prolapse, Limb pain, Mitral regu... |
ORPHA:287 |
| Multiple Myeloma |
|
Fatigue, Hypercalcemia, Splenomegaly, Bone pain, Elevated circulating creatinine concentration, W... |
ORPHA:29073 |
| Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Pate... |
OMIM:616894 |
| Pituitary Apoplexy |
|
Fatigue, Hyponatremia, Hypergonadotropic hypogonadism, Trigeminal neuralgia, Hypertension, Impote... |
ORPHA:95613 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of female external genitalia, Parakeratosis, Oral ulcer, Gingivitis |
ORPHA:83453 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Patent ductus arteriosus, Ventricular septal defect |
OMIM:106260 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Increased urinary glycerol, Hyperglycerolemia, C... |
OMIM:307030 |
| Alg12-Cdg |
|
Hyponatremia, Cryptorchidism, Muscular ventricular septal defect, Patent ductus arteriosus, Biven... |
ORPHA:79324 |
| Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... |
OMIM:607323 |
| Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis |
OMIM:202650 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Esophageal atresia, Muscular ventricular septal defect, Submucous clef... |
OMIM:619227 |
| Glioblastoma |
|
Fatigue, Paralysis |
ORPHA:360 |
| Immunodeficiency 70 |
|
Achalasia, Chronic fatigue |
OMIM:618969 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti |
OMIM:607903 |
| Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Unsteady gait, Mitral valve prolapse, Decreased body weight, Atrial se... |
OMIM:605822 |
| 16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Skeletal muscle atrophy, Abnormal dental enamel morphology, Trichiasis, Cleft upp... |
OMIM:601701 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carc... |
ORPHA:352540 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Oroticaciduria, Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Abn... |
ORPHA:415 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Patent ductus arteriosus, Contracture of the proximal interphalangeal joint of the 4th finger, Pu... |
OMIM:618223 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
| Marshall-Smith Syndrome |
|
Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arteriosus, Pr... |
OMIM:602535 |
| Coccidioidomycosis |
|
Fatigue, Pericarditis, Vasculitis, Vasospasm, Chest pain, Cerebral ischemia, Myalgia, Abnormal sp... |
ORPHA:228123 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Atrial septal defect, Inability to walk |
OMIM:614207 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Lower limb spasticity, Hip contracture, Death in infancy, Large for gestational age... |
OMIM:300868 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Sparse scalp hair, Dental crowding, Pulmonary embolism... |
ORPHA:394 |
| Wilson Disease |
|
Hepatomegaly, Splenomegaly, Increased body weight, Weight loss, Depression, Proximal muscle weakn... |
ORPHA:905 |
| Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:277600 |
| Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Cardiomyopathy, Aorti... |
OMIM:135500 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Tachycardia, Ventricular septal defect, Flexion contracture, Retina... |
OMIM:614653 |
| Phelan-Mcdermid Syndrome |
|
Broad-based gait, Ventricular septal defect, Impaired pain sensation, Patent ductus arteriosus, U... |
OMIM:606232 |
| Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... |
ORPHA:1780 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Flexion contracture of finger, Small for gestational age, Ventricular septa... |
ORPHA:464311 |
| Seckel Syndrome |
|
Tooth agenesis, Sparse scalp hair, Abnormal dental enamel morphology, Cachexia |
ORPHA:808 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Polyhydramnios, Hy... |
OMIM:601678 |
| Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cryptorchidism, S... |
OMIM:617063 |
| Herpes Simplex Virus Encephalitis |
|
Fatigue, Chills, Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Microphthalmia, Syndromic 2 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Patent ductus arteriosus, Flexion contra... |
OMIM:300166 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Recurrent lower respiratory tract infections |
OMIM:136630 |
| Meester-Loeys Syndrome |
|
Aortic dissection, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm,... |
OMIM:300989 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:96191 |
| Codas Syndrome |
|
Ventricular septal defect, Cryptorchidism, Atrial septal defect, Vocal cord paresis, Atrioventric... |
OMIM:600373 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Bilateral cryptorchid... |
OMIM:617402 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Neop... |
ORPHA:723 |
| Overhydrated Hereditary Stomatocytosis |
|
Fatigue, Hepatomegaly, Pulmonary embolism, Splenomegaly, Hyperbilirubinemia |
OMIM:185000 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Death in infancy, Ventricular septal defect, Death in childhood |
OMIM:243150 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Bifid uvula, Abnormal penis morphology, Multicystic kidney d... |
ORPHA:2461 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Secundum atrial septal defect, Hypertension |
OMIM:619758 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:611812 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Grade... |
OMIM:619377 |
| Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis, Cheilitis, Vasculitis in the skin |
ORPHA:163525 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Bilateral cryptorchidism, Obesity, Atrial septal defect, Male hypogonadism |
OMIM:619471 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Flexion contracture of finger, Thickened skin, Narrow philtrum, Palmop... |
OMIM:601812 |
| Apert Syndrome |
|
Delayed eruption of teeth, Esophageal atresia, Narrow palate, Ovarian neoplasm, Cleft palate, Hyp... |
ORPHA:87 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent ductus arteriosus... |
OMIM:257920 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2902 |
| Distal Duplication 5Q |
|
Cryptorchidism, Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
| Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Joint contracture, Hypoplasia of the musculature, Akinesia |
OMIM:225790 |
| Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Chronic fatigue, Spider hemangioma, Abdominal pain, Splenomegaly, Ar... |
ORPHA:2137 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, High palate, Short phil... |
OMIM:135900 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou... |
ORPHA:158668 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Cryptorchidism, Flexion contracture, Atrial septal defect, Spasticity,... |
OMIM:147791 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Myotonia, Hyperkalemia |
OMIM:170500 |
| Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly o... |
ORPHA:1507 |
| Oculodentodigital Dysplasia |
|
Ataxia, Paraparesis, Spasticity, Tetraparesis, Joint contracture of the 5th finger, Atrial septal... |
OMIM:164200 |
| Imerslund-Gräsbeck Syndrome |
|
Tachycardia, Proteinuria, Angular cheilitis, Weight loss, Failure to thrive, Glossitis |
ORPHA:35858 |
| Hand-Foot-Genital Syndrome |
|
Miscarriage, Ventricular septal defect |
ORPHA:2438 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Epispadias, Abnormal fallopian tube morphology, Abnormality of t... |
ORPHA:2556 |
| Acute Myelomonocytic Leukemia |
|
Abnormality of the gingiva, Weight loss |
ORPHA:517 |
| Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestib... |
ORPHA:252164 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Peripheral pulmonary artery stenosis, Morg... |
OMIM:613177 |
| Serotonin Syndrome |
|
Tachycardia, Rhabdomyolysis, Hypertension, Hypotension, Acute kidney injury |
ORPHA:43116 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Cryptorchidism, Arteria lusoria, Obesity, Heart murmur, Difficulty walking, Patent foramen ovale |
OMIM:618653 |
| Parkes Weber Syndrome |
|
Subarachnoid hemorrhage, Hemangiomatosis, High-output congestive heart failure, Bounding pulse, N... |
ORPHA:90307 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Follicular hyperkerato... |
ORPHA:1809 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Ventricular septal defect, Overweight, Hematochezia, Failure to thrive, Peripheral pulmonary arte... |
OMIM:619575 |
| Arachnoiditis |
|
Fatigue, Arthralgia, Paresthesia |
ORPHA:137817 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dyst... |
OMIM:308800 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Patent ductus arteriosus, Elbow contracture, Knee flexion contracture |
OMIM:618162 |
| Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni di... |
OMIM:613309 |
| Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Hypertonia, Bilateral su... |
OMIM:618460 |
| Sheehan Syndrome |
|
Hyponatremia, Dyspareunia, Orthostatic hypotension, Decreased female libido, Chronic fatigue, Obe... |
ORPHA:91355 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect, Obesity |
ORPHA:251038 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Synophrys, Sub... |
ORPHA:536545 |
| Fanconi Anemia, Complementation Group D2 |
|
Small for gestational age, Hypergonadotropic hypogonadism, Ectopic kidney, Esophageal atresia, Cr... |
OMIM:227646 |
| Inhalational Anthrax |
|
Internal hemorrhage, Hypotension, Abnormal sweat gland morphology |
ORPHA:247257 |
| Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... |
OMIM:249420 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
| Genitopatellar Syndrome |
|
Hip contracture, Cryptorchidism, Knee flexion contracture, Atrial septal defect, Arthrogryposis m... |
ORPHA:85201 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:612530 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Broad-based gait, Peripheral pulmonary artery stenosis, Ventricular septal defect, ... |
OMIM:280000 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Ventricular septal defect, Ataxia, Inability to walk, Dilatation of the ventricular cavity, Pulmo... |
ORPHA:459070 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Impaired pain sensation, Inability to walk, Cry... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Impaired pain sensation, Inability to walk, Cry... |
ORPHA:352665 |
| Lymphatic Malformation 6 |
|
Splenomegaly, Hydrocele testis, Varicose veins, Atrial septal defect, Intestinal lymphangiectasia |
OMIM:616843 |
| Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Alopecia of scalp, Generalized ichthyosis, Follicular hyperkeratosis |
OMIM:608649 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Emphysema, Bronchiectasis, Abnormal pulmonary i... |
OMIM:181000 |
| Darier Disease |
|
Acrokeratosis, Abnormal hair morphology, Thickened skin, Anal mucosal leukoplakia, Palmoplantar k... |
ORPHA:218 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Abdominal pain, Splenomegaly, Increased circulating ferritin concent... |
ORPHA:3202 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
| New-Onset Refractory Status Epilepticus |
|
Fatigue |
ORPHA:363558 |
| Sarcoidosis |
|
Heart block, Abnormal lung morphology, Ventricular tachycardia, Nephrocalcinosis, Tubulointerstit... |
ORPHA:797 |
| Ring Chromosome 12 Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Small for gestational age |
ORPHA:1439 |
| Hamamy Syndrome |
|
Prolonged QRS complex, Complete atrioventricular canal defect, Cryptorchidism, Mitral regurgitati... |
OMIM:611174 |
| Septo-Optic Dysplasia Spectrum |
|
Fatigue, Hemiplegia/hemiparesis, Obesity, Cryptorchidism |
ORPHA:3157 |
| Blomstrand Lethal Chondrodysplasia |
|
Coarctation of aorta |
ORPHA:50945 |
| Coffin-Siris Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal heart morphology, A... |
ORPHA:1465 |
| Specc1L-Related Hypertelorism Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Arrhyt... |
ORPHA:1519 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Oral mucosal blisters |
ORPHA:158681 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Secundum atrial septal defect |
OMIM:620183 |
| Biotinidase Deficiency |
|
Alopecia, Hyperammonemia, Organic aciduria, Lethargy, Limb muscle weakness |
ORPHA:79241 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage, Cryptorchidism, Encopresis, Unsteady gait, Patent... |
OMIM:616682 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Flexion contracture, Vocal cord paralysis, Sudden death, Atrial septal def... |
OMIM:194050 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lower limb spasticity, Broad-based gait, Ventricular septal defect, Cryptorchidism, Hypertonia, D... |
ORPHA:251028 |
| Klatskin Tumor |
|
Fatigue, Hepatomegaly, Abdominal pain, Weight loss |
ORPHA:99978 |
| Lethal Kniest-Like Dysplasia |
|
Atrial septal defect |
ORPHA:2347 |
| Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Polyhydramnios, Esophageal atresi... |
OMIM:164280 |
| Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Inability to walk, Cryptorch... |
ORPHA:488632 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Failure to thrive, Ventricular septal defect |
OMIM:615503 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Mitral valve prolapse, Ascend... |
ORPHA:536467 |
| Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Wide mouth... |
OMIM:243910 |
| Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Acute monocytic leukemia, Oliguria, Weight loss |
ORPHA:514 |
| Oculocutaneous Albinism Type 2 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Basal cell carcinoma, Squam... |
ORPHA:79432 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Small for gestational age, Ventricular septal ... |
ORPHA:464306 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
| Pyomyositis |
|
Renal insufficiency, Myositis, Sudden cardiac death, Weight loss, Testicular teratoma |
ORPHA:764 |
| Restrictive Dermopathy |
|
Ureteral duplication, Multiple joint contractures, Polyhydramnios, Sparse hair, Atrial septal def... |
ORPHA:1662 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syn... |
OMIM:219800 |
| Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... |
ORPHA:580 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Atrial septal defect, Failure to thrive in infancy, Camptodactyly |
ORPHA:261323 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spastic... |
ORPHA:1934 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Dehydration, Weight loss, Hematuria, Hyperna... |
ORPHA:35710 |
| Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Malabsorption, Abnormality of the tongue, Cheilitis, Furro... |
ORPHA:37 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Fatigue, Myopathy |
ORPHA:257 |
| Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Cryptorchidism, Common atrium |
OMIM:225500 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Weight loss, Honeycomb... |
ORPHA:79127 |
| Costello Syndrome |
|
Ventricular septal defect, Rhabdomyosarcoma, Achilles tendon contracture, Sudden death, Mitral va... |
OMIM:218040 |
| Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Proteinuria, Glomerulonephritis, Lymphedema, Orchitis, Abnor... |
ORPHA:2035 |
| Oromandibular Dystonia |
|
Torticollis, Depression, Weight loss, Abnormal lip morphology, Dysphagia |
ORPHA:93958 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Tricuspid regurgitation, Cleft soft palate, Polyhydramnios, Myopathy, Mi... |
OMIM:614557 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... |
OMIM:178110 |
| Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Ventricular septal defect, Congenital diaphragmatic hernia, Abdominal... |
ORPHA:2092 |
| Larsen Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Fatigue, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Lower limb pain |
OMIM:261990 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
| Osteopathia Striata With Cranial Sclerosis |
|
Failure to thrive, Ventricular septal defect, Facial palsy, Patent ductus arteriosus, Camptodacty... |
OMIM:300373 |
| Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Sparse facial hair, Sparse eyelashes, Malabsorption, Sparse... |
OMIM:250250 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Atrial septal defect, Flexion contracture, Camptodactyly |
OMIM:207410 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abno... |
ORPHA:536471 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Myotonia, Muscular dystrophy |
OMIM:158800 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Hyperkeratosis, Ichthyosis, Sparse hair |
ORPHA:1005 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Myotonia, Carious teeth, Elbow flexion contracture, Pulmonary arterial medial hypert... |
OMIM:601559 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Bilateral cryptorchidism, Gonadal hypoplasia, Telangiectasia, Melanoma |
OMIM:278800 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Abnormality of the tongue, Dysphagia, Weight loss |
ORPHA:216866 |
| Craniofacial Microsomia 1 |
|
Ventricular septal defect, Hypoplasia of facial musculature, Patent ductus arteriosus, Coarctatio... |
OMIM:164210 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Abnormality of the dentition, Fine hair, Hyperkeratosis, Sparse... |
ORPHA:1806 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Fatigue, Achilles tendon calcification, Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217085 |
| Diphallia |
|
Abnormality of the gastrointestinal tract, Duplicated colon, Bifid scrotum, Rectoperineal fistula... |
ORPHA:227 |
| Cohen Syndrome |
|
Ventricular septal defect, Failure to thrive in infancy, Cryptorchidism, Obesity, Mitral valve pr... |
ORPHA:193 |
| Warburg-Cinotti Syndrome |
|
Dental crowding, Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Gingival ove... |
OMIM:618175 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Myotonia, Firm muscles |
OMIM:255710 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:133200 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Failure to thrive in infancy, Sple... |
OMIM:619418 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Carious teeth, Esophageal stricture, Palmoplantar hyperkerat... |
OMIM:224230 |
| Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:222448 |
| Fibrochondrogenesis 1 |
|
Stillbirth, Joint contracture of the hand, Patent foramen ovale, Camptodactyly |
OMIM:228520 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:300968 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Parakeratosis, Pyloric stenosis, Contracture of the distal interphalangeal joint of... |
ORPHA:83617 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Nail ... |
OMIM:615726 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Large for gestational age, Patent ductus arteriosus, Gait disturbance, Atrial septal defect, Inte... |
OMIM:213980 |
| Granulomatosis With Polyangiitis |
|
Fatigue, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight ... |
OMIM:608710 |
| Oculodentodigital Dysplasia |
|
Ventricular septal defect, Ataxia, Camptodactyly of finger, Spasticity, Gait disturbance, Spastic... |
ORPHA:2710 |
| Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Obesity, Aortic regurgitation |
OMIM:620072 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Lower limb dysmetria, Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse... |
ORPHA:363700 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Myotonia |
OMIM:254950 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Fatigue, Bilateral camptodactyly, Spastic paraparesis |
OMIM:619234 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... |
ORPHA:217093 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Rhabdomy... |
ORPHA:509 |
| Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Fatigue, Oligozoospermia, Hypertension, Hypokalemia, Stroke, Oligomenorrhea, Infertility |
ORPHA:786 |
| Turnpenny-Fry Syndrome |
|
Aortic regurgitation, Torticollis, Facial hypotonia, Patent ductus arteriosus, Mitral valve prola... |
OMIM:618371 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect, Spastic tetraplegia |
OMIM:619306 |
| 2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect, Camptodactyly of finger |
ORPHA:251014 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Small for gestational age, Increased serum prostaglandin E2, Polyhydramnios, Re... |
OMIM:241200 |
| Renpenning Syndrome 1 |
|
Ventricular septal defect, Situs inversus totalis, Death in childhood, Joint contracture of the h... |
OMIM:309500 |
| Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
| Degcags Syndrome |
|
Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Small for gestat... |
OMIM:619488 |
| Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Macroglossia, Di... |
OMIM:618268 |
| Fixed Drug Eruption |
|
Fatigue, Chills |
ORPHA:293812 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Tricuspid regurgitation, Abnormality of hair texture, Hypophosphaturia, Thicken... |
ORPHA:73223 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Hyperkeratosis, Short philtrum |
ORPHA:163966 |
| Peritoneal Cystic Mesothelioma |
|
Neoplasm, Weight loss |
ORPHA:168816 |
| Idiopathic Camptocormia |
|
Myositis, Myotonia, Parkinsonism, Elevated circulating creatine kinase concentration, Fatty repla... |
ORPHA:1320 |
| Cerebellofaciodental Syndrome |
|
Cryptorchidism, Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Nail dystrophy, Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
| Focal Myositis |
|
Myositis, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Ventricular septal defect, Gait ataxia, Right aortic arch, Lower-limb joint con... |
ORPHA:513456 |
| Arboleda-Tham Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Bilateral cryptorchidism, Patent ductus... |
OMIM:616268 |
| Lateral Meningocele Syndrome |
|
Cryptorchidism, Ventricular septal defect |
ORPHA:2789 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis, Abnormal oral mucosa morphology |
ORPHA:254478 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Limb hypertonia |
OMIM:609460 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Broad-based gait, Small for gestational age, Ventricular septal defect, Abn... |
ORPHA:268261 |
| Inhalational Botulism |
|
Fatigue, Paralysis |
ORPHA:254504 |
| Zttk Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, A... |
OMIM:617140 |
| Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Ventricular septal defect, Hypergonadotropic hypogonadism, Cryptorchid... |
OMIM:227645 |
| Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosu... |
OMIM:206900 |
| Acute Panmyelosis With Myelofibrosis |
|
Fatigue, Splenomegaly, Low back pain |
ORPHA:86843 |
| Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Low posterior hairline, Downturned corners of mouth, Wide ... |
OMIM:618779 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotein concen... |
ORPHA:420741 |
| Renal Agenesis |
|
Hypertension, Ventricular septal defect |
ORPHA:411709 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis |
OMIM:602723 |
| Sweeney-Cox Syndrome |
|
Bilateral cryptorchidism, Patent ductus arteriosus, Patent foramen ovale |
OMIM:617746 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hepatomegaly, Death in infancy, Ventricular septal de... |
ORPHA:373 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Paraplegia, Mitral regurgi... |
OMIM:271640 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Cryptorchidism, Macroglossia, Perimembranous ventricular septal defect... |
OMIM:301040 |
| 6Q Terminal Deletion Syndrome |
|
Hypospadias, Highly arched eyebrow, Phimosis, High, narrow palate, Low anterior hairline, Obesity... |
ORPHA:75857 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
| Wiskott-Aldrich Syndrome |
|
Fatigue, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Abnormality of the... |
ORPHA:906 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... |
ORPHA:96334 |
| Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Ureteropelvic junction obstruction, Abnormality of upper lip vermil... |
ORPHA:506358 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Hyperparakeratosis, Hydrocele testis, Multiple lipomas, Nephroblastom... |
ORPHA:276280 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Death in infancy, Failure to thrive, Flexion contracture |
OMIM:609069 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... |
OMIM:301043 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Polyhydramnios, Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophag... |
OMIM:619859 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Fatigue, Abdominal pain, Pulmonary embolism, Hyperlipidemia, Hydrocele testis, Hypertension, Hypo... |
ORPHA:567546 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal heart valve morphology, Ataxia, Congenital diaphragmatic hernia, Cryptorchidism, Abnorma... |
ORPHA:280 |
| Keutel Syndrome |
|
Miscarriage, Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic steno... |
OMIM:245150 |
| Immunodeficiency 12 |
|
Esophageal stricture, Bronchiectasis, Cheilitis, Recurrent aphthous stomatitis, Decreased body we... |
OMIM:615468 |
| Omodysplasia 1 |
|
Atrial septal defect, Cryptorchidism, Pulmonary artery stenosis, Ventricular septal defect |
OMIM:258315 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Large for gestational age, Abnormal right ventricle morphology, Mitral... |
ORPHA:500095 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Portal hypertension, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Pulmonary ar... |
OMIM:620005 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
| Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lymphedema, Increased urinary O-linked sialopeptides, Thick lo... |
OMIM:609242 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Dilation of Virchow-Robin spaces, Cryptorchidism, Atrial septal defect, Arthrogryposis multiplex ... |
OMIM:619512 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis, Nail dystrophy |
OMIM:615190 |
| Chronic Myeloid Leukemia |
|
Fatigue, Splenomegaly |
ORPHA:521 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Fatigue, Arthralgia, Abdominal pain |
OMIM:615399 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Patent ductus arteriosus, Mitral regurgitation, Patent foramen ovale, Difficulty walking |
ORPHA:457395 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cryptorchidism, Small thenar eminence, Camptodactyly... |
OMIM:613458 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Ventricular septal defect, Spastic tetraparesis, Congenital diaphragmatic hernia, Partial anomalo... |
OMIM:301044 |
| Cyclic Neutropenia |
|
Fatigue, Bone pain, Abdominal pain |
ORPHA:2686 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Bicuspid aortic valve, Elbow contracture, Cryptorchidism,... |
OMIM:617137 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Fatigue, Hypercalcemia, Hypermagnesemia, Bone pain, Hypophosphatemia |
OMIM:600740 |
| Thauvin-Robinet-Faivre Syndrome |
|
Ventricular septal defect, Large for gestational age, Mitral valve prolapse, Macroglossia, Varico... |
OMIM:617107 |
| Rat-Bite Fever |
|
Pericarditis, Myocarditis, Endocarditis, Weight loss, Tendonitis, Parotitis |
ORPHA:31205 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Synophrys, Myotonia, Thin vermilion border, Abnormality of the dentition |
ORPHA:391307 |
| Helsmoortel-Van Der Aa Syndrome |
|
Facial palsy, Cryptorchidism, Obesity, Heart murmur, Mitral valve prolapse, Abnormal heart morpho... |
OMIM:615873 |
| Apert Syndrome |
|
Delayed eruption of teeth, Overriding aorta, Ventricular septal defect, Esophageal atresia, Pylor... |
OMIM:101200 |
| Pilomatrixoma |
|
Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
| Diets-Jongmans Syndrome |
|
Cryptorchidism, Interrupted inferior vena cava with azygous continuation, Ventricular septal defe... |
OMIM:618846 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Recurrent respiratory infections, Elevated circulating C-reactive protein conc... |
OMIM:301074 |
| Primary Biliary Cholangitis |
|
Fatigue, Orthostatic hypotension, Portal hypertension, Conjugated hyperbilirubinemia, Hypoalbumin... |
ORPHA:186 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Ventricular septal defect, Mitral stenosis, Splenomegaly, Patent ductus arteriosus,... |
ORPHA:955 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Camptodactyly |
OMIM:272950 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Mitral regurgitation, Patent foramen ovale |
OMIM:225250 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Patent ductus arteriosus, Obesity, Abnormal heart morphology, Pate... |
ORPHA:177907 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
| Hereditary Xanthinuria |
|
Hypouricemia, Chronic fatigue, Flank pain, Hyperxanthinemia, Myopathy |
ORPHA:3467 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Charge Syndrome |
|
External genital hypoplasia, Polyhydramnios, Secundum atrial septal defect, Hypocalcemia, Atrial ... |
OMIM:214800 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Waddling gait, Tricuspid regurgitation, Ventricula... |
OMIM:143095 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Joint contracture, Aortic root aneurysm, Decreased body weight |
OMIM:615349 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Fatigue, Abnormality of the menstrual cycle, Venous insufficiency, Aplasia/Hypoplasia of the abdo... |
ORPHA:285 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Fatigue, Tachycardia, Abdominal pain, Leiomyosarcoma, Hypertension, ... |
ORPHA:139411 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Skeletal muscle atrophy, Recurrent respiratory infections, Splenom... |
OMIM:614162 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Ventricular septal defect, Small for gestational age, Portal hypertension, Increase... |
OMIM:243800 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Ureteral duplication, Sparse eyelashes, Short nail, Limb joint contracture, Epiderma... |
OMIM:275210 |
| Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hematemesis, Conjugated hyperbilirubinemia... |
ORPHA:480520 |
| Distal Deletion 6P |
|
Atrial septal defect |
ORPHA:96125 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Facial palsy, Hydrocele testis, Unconjugated hyperbilirubinemia, Atrial septal defect, Pulmonary ... |
OMIM:620186 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Abnormality of the uterus, ... |
ORPHA:59315 |
| Primary Sjögren Syndrome |
|
Fatigue, Myositis, Somatic sensory dysfunction, Raynaud phenomenon, Chorea, Vasculitis, Chronic p... |
ORPHA:289390 |
| Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Primum atrial septal defect |
OMIM:615272 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... |
OMIM:604777 |
| Opitz Gbbb Syndrome |
|
Cryptorchidism, Ventricular septal defect |
OMIM:300000 |
| Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... |
ORPHA:818 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Pate... |
ORPHA:261337 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Dehydration, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouric... |
ORPHA:3337 |
| Neurooculorenal Syndrome |
|
Dextrocardia, Conjugated hyperbilirubinemia, Cryptorchidism, Mitral valve prolapse, Tetralogy of ... |
OMIM:620305 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fatigue, Hypercalcemia, Testicular neoplasm, Shortened QT interval, Bone pain, Episodic abdominal... |
ORPHA:99880 |
| Norrie Disease |
|
Cachexia, Cryptorchidism, Thin vermilion border, Uterine rupture, Neoplasm of the eye, Failure to... |
ORPHA:649 |
| Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Cryptorchidism, Patent ductus arteriosus, Gene... |
OMIM:235730 |
| Thyroid Hypoplasia |
|
Fatigue, Macroglossia |
ORPHA:95720 |
| Carpenter Syndrome 2 |
|
Tricuspid regurgitation, Dextrocardia, Situs inversus totalis, Bilateral cryptorchidism, Patent d... |
OMIM:614976 |
| Pineoblastoma |
|
Retinoblastoma, Lethargy, Pinealoma |
ORPHA:251909 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Ventricular septal defect, Spastic tetraparesis, Cryptorchidism, Patent ductus arteriosus, Patent... |
OMIM:616975 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Diastasis recti, Dysesthesia, Cryptorchidism, Mitr... |
OMIM:601776 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Small for gestational age, Secundum atrial septal defect, Patent ductus ar... |
OMIM:613355 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... |
OMIM:620133 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Hepatomegaly, Arthrogryposis multiplex congenita |
OMIM:620076 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Stillbirth, Transposition of... |
OMIM:256520 |
| Cerebrocostomandibular Syndrome |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Elbow flexion contracture |
OMIM:117650 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
| Acute Liver Failure |
|
Shock, Gastrointestinal hemorrhage, Hyperammonemia, Depression, Intracranial hemorrhage, Hypotens... |
ORPHA:90062 |
| Limb Body Wall Complex |
|
Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph... |
ORPHA:2369 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Recurrent respiratory infections, Aganglionic megacolon, Abnormal denta... |
ORPHA:2273 |
| Hajdu-Cheney Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Failure to thrive, Ventricular septal defect |
OMIM:102500 |
| Pemphigus Vulgaris |
|
Acantholysis, Abnormal oral cavity morphology, Weight loss |
ORPHA:704 |
| Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Clonus, Cryptorchidism, Lower limb hypertonia, Chordee, Oculomotor apraxia, Patent foramen ovale |
ORPHA:477993 |
| Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Cryptorchidism, Dysplastic tricuspid valve, Ventricular septal ... |
ORPHA:1724 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Ventricular septal defect |
ORPHA:1393 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Ventricular septal defect, Urinary incontinence, Cryptorchidism, Pa... |
OMIM:619522 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Increased body weight |
ORPHA:64745 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Gangrene, Rigidity, Hypertonia, Atrial septal defect, Spasticity |
ORPHA:2526 |
| Short Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Abnormality of the dentition, Weight loss, Sparse ha... |
ORPHA:3163 |
| 2Q37 Microdeletion Syndrome |
|
Abnormal aortic morphology, Obesity, Congenital diaphragmatic hernia |
ORPHA:1001 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diast... |
OMIM:312870 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Torticollis, Cryptorchidism, Knee flexion contracture, Total anomalous pulmonary venous return, A... |
OMIM:609945 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Congenital diaphragmatic hernia, Arterial tortuosity, Aortic root aneurysm, Generalized arterial ... |
OMIM:614437 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lung morphology, Abnormal testis morphology, Elevated circulating C-reactive protein con... |
ORPHA:54251 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Exercise intolerance, Fatigue, Knee flexion contracture, Difficulty walking, Weakness of facial m... |
OMIM:617239 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Edema, Weight loss |
ORPHA:33577 |
| Digeorge Syndrome |
|
Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Obesity, Hemiparesis, Hydrocel... |
OMIM:188400 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Atrial septal defect, Macroglossia, Failure to thrive, Opisthotonus |
OMIM:269150 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Weight loss, Neoplasm of the nervous system, Ascites, Neuroendocrine neop... |
ORPHA:100086 |
| Okamoto Syndrome |
|
Ventricular septal defect, Urinary incontinence, Splenomegaly, Abnormal left ventricle morphology... |
ORPHA:2729 |
| Immunodeficiency 58 |
|
Fatigue, Failure to thrive |
OMIM:618131 |
| Inflammatory Pseudotumor Of The Liver |
|
Neoplasm of the liver, Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:90003 |
| Chikungunya |
|
Fatigue, Shoulder pain, Epistaxis, Raynaud phenomenon, Arthralgia, Myalgia, Paresthesia, Chills, ... |
ORPHA:324625 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
| Leprosy |
|
Absent eyebrow, Alopecia, Skeletal muscle atrophy, Epistaxis, Loss of eyelashes, Testicular mass,... |
ORPHA:548 |
| Neurofibromatosis-Noonan Syndrome |
|
Secundum atrial septal defect, Cryptorchidism, Pulmonic stenosis |
OMIM:601321 |
| Sotos Syndrome |
|
Hip contracture, Ventricular septal defect, Hypercalcemia, Ankle flexion contracture, Tremor, Cry... |
ORPHA:821 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased circulating 12-HETE, Gastric ulcer, Esophageal ulceration, Decreased se... |
OMIM:618372 |
| Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Vater/Vacterl Association |
|
Failure to thrive, Ventricular septal defect, Hypospadias, Ectopic kidney, Esophageal atresia, Tr... |
OMIM:192350 |
| Au-Kline Syndrome |
|
Hypertension, Aortic root aneurysm, Failure to thrive, Cryptorchidism |
OMIM:616580 |
| Cornelia De Lange Syndrome 1 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Elbow flexion contrac... |
OMIM:122470 |
| Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Failure to thrive, Ventricular septal defect, Ventricular septal hypertrophy |
OMIM:608670 |
| Wolfram Syndrome 2 |
|
Neurogenic bladder, Gastric ulcer, Depression |
OMIM:604928 |
| Fatal Familial Insomnia |
|
Urinary retention, Dysphagia, Weight loss |
OMIM:600072 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Transient ischemic attack, Failure to thrive in infancy, Patent ductus arteriosus after birth at ... |
ORPHA:500150 |
| Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis |
OMIM:133190 |
| Chromosome 13Q14 Deletion Syndrome |
|
Cryptorchidism, Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hepatic arteriovenous malformation... |
ORPHA:2929 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Atrial septal defect, Hypertension, Neonatal hyperbilirubinemia |
OMIM:300896 |
| Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmati... |
OMIM:154400 |
| Barrett Esophagus |
|
Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus, Esophageal ulceration |
OMIM:614266 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
| Townes-Brocks Syndrome |
|
Abnormal pulmonary valve morphology, Bowel incontinence, Cryptorchidism, Patent ductus arteriosus... |
ORPHA:857 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Atrial septal defect, Myocarditis, Arrhythmia |
OMIM:250220 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Tetralogy of Fallot, Failure to thrive |
OMIM:619525 |
| Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
| Familial Hypocalciuric Hypercalcemia |
|
Fatigue, Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Episodic abdominal pain, Hypocal... |
ORPHA:405 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp... |
OMIM:614083 |
| Aregenerative Anemia |
|
Fatigue |
ORPHA:101096 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Patent foramen ovale |
OMIM:300990 |
| Vacterl With Hydrocephalus |
|
Polyhydramnios, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula, Pulmonary hypoplas... |
ORPHA:3412 |
| Femoral-Facial Syndrome |
|
Cryptorchidism, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Epistaxis, Aplasia of the right hemidiaphragm, Cryptorchidism, Patent ductus arteriosus, Poor coo... |
OMIM:619841 |
| Charge Syndrome |
|
Aortic arch aneurysm, Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Patent ductus ... |
ORPHA:138 |
| Cornelia De Lange Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Primary amenorrhea, T... |
ORPHA:199 |
| Poland Syndrome |
|
Dextrocardia, Congenital diaphragmatic hernia, Cryptorchidism, Aplasia of the pectoralis major mu... |
ORPHA:2911 |
| Faciocardiomelic Syndrome |
|
Common atrium, Large for gestational age |
OMIM:612731 |
| Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Ventricular septal defect, Small for gestational age, Cryptorchidism, Atri... |
OMIM:194190 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Fatigue, Arthralgia, Myalgia |
ORPHA:183675 |
| Alport Syndrome |
|
Renal glomerular foam cells, Hypertension, Abnormal aortic morphology, Epigastric pain, Aortic an... |
ORPHA:63 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:309031 |
| Perlman Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the abdominal wall musc... |
OMIM:267000 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Fatigue, Elevated circulating C-reactive protein concentration, Abdominal pain, Flank pain, Ocula... |
ORPHA:91500 |
| Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Hypertriglyceridemia, Small for gestational age, Secundum atrial septal de... |
OMIM:264090 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Ventricular septal defect |
ORPHA:1071 |
| Penile Agenesis |
|
Atrial septal defect, Cryptorchidism, Ventricular septal defect |
ORPHA:49 |
| Otopalatodigital Syndrome, Type Ii |
|
Elbow contracture, Cryptorchidism, Stillbirth, Atrial septal defect, Dilatation of the sinus of V... |
OMIM:304120 |
| Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
| Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Small for gestational age, Cryptorchidism, Atrial septal defect, Tetra... |
OMIM:107480 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cylindru... |
OMIM:233450 |
| Witteveen-Kolk Syndrome |
|
Fatigue, Poor motor coordination, Small for gestational age, Congenital diaphragmatic hernia, Uni... |
OMIM:613406 |
| Malt Lymphoma |
|
Fatigue, Abdominal pain, Weight loss |
ORPHA:52417 |
| Coffin-Siris Syndrome 12 |
|
Facial palsy, Cryptorchidism, Tetralogy of Fallot, Heart murmur, Failure to thrive, Patent forame... |
OMIM:619325 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect |
ORPHA:436252 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Fatigue, Arthralgia, Hyperbilirubinemia |
ORPHA:562639 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Darier-White Disease |
|
Bipolar affective disorder, Acrokeratosis, Acantholysis, Enlargement of parotid gland, Subungual ... |
OMIM:124200 |
| Glycine Encephalopathy |
|
Lethargy, Hyperglycinemia |
ORPHA:407 |
| Feingold Syndrome |
|
Esophageal atresia, Orofacial cleft, Duodenal atresia |
ORPHA:1305 |
| Peters-Plus Syndrome |
|
Ventricular septal defect, Diastasis recti, Cryptorchidism, Patent ductus arteriosus, Pulmonic st... |
OMIM:261540 |
| Selective Igm Deficiency |
|
Raynaud phenomenon, Chronic fatigue |
ORPHA:331235 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Broad-based gait, Ventricular septal defect, Hypocalcemia, Dystonia |
OMIM:620330 |
| Mycetoma |
|
Cobblestone-like hyperkeratosis |
ORPHA:2583 |
| Hydrolethalus Syndrome 1 |
|
Complete atrioventricular canal defect, Stillbirth, Agenesis of the diaphragm, Ventricular septal... |
OMIM:236680 |
| Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Ankle flexion contracture, Cryptorchidism, Patent ductus arteriosus, E... |
OMIM:268300 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Esophageal atresia, Cryptorchidism,... |
ORPHA:93271 |
| Non-Acquired Panhypopituitarism |
|
Fatigue, Hypogonadotropic hypogonadism, Infertility, Hypotension, Decreased testicular size, Amen... |
ORPHA:90695 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Atrial septal defect, Cardiomyopathy, Patent ductus arteriosus, Difficulty walking |
ORPHA:480880 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Ventricular septal defect |
OMIM:619727 |
| Bartsocas-Papas Syndrome 1 |
|
Bilateral cryptorchidism, Arthrogryposis multiplex congenita, Flexion contracture, Patent foramen... |
OMIM:263650 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Fatigue, Myositis, Abnormality of the extraocular muscles, Weight loss |
ORPHA:79078 |
| Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Cryptorchidism, Patent foramen ovale |
ORPHA:221120 |
| Ulnar-Mammary Syndrome |
|
Elbow flexion contracture, Arrhythmia, Ventricular septal defect, Obesity |
OMIM:181450 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Waddling gait, Multiple joint contractures, Secundum atrial septal defect, Subarterial ventricula... |
ORPHA:99646 |
| Genitopatellar Syndrome |
|
Hip contracture, Ventricular septal defect, Cryptorchidism, Knee flexion contracture, Atrial sept... |
OMIM:606170 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypogonadotropic hypogonadism, Abnormality of secondary sexual hair, Hypotension, Decreased testi... |
ORPHA:95494 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Weight loss |
ORPHA:103918 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Ventricular septal defect |
OMIM:259770 |
| Proboscis Lateralis |
|
Patent ductus arteriosus, Ventricular septal defect |
ORPHA:141099 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Coarse hair, Sparse hair |
OMIM:118650 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Cryptorchidis... |
OMIM:216340 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Weight loss, Flexion contracture, Hepatosplenomegaly |
ORPHA:85408 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplastic aortic arch, Facial hypotonia |
ORPHA:457284 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Fatigue, Vulvodynia, Myalgia |
ORPHA:95455 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
| Adenocarcinoma Of The Anal Canal |
|
Intestinal bleeding, Chronic fatigue, Abdominal pain |
ORPHA:424016 |
| Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
| Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Weight loss |
ORPHA:677 |
