| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy |
ORPHA:3283 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
| Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
| Cardiomyopathy, Dilated, 2I |
|
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... |
OMIM:620462 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death |
OMIM:107970 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... |
OMIM:616201 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... |
OMIM:620058 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... |
OMIM:618920 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602087 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
| Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
| Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure |
OMIM:609909 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
| Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
| Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... |
OMIM:615770 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
| Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
| Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
| Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... |
ORPHA:1344 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormal vertebral morphology, Synostosis of joints, Alopecia, Limitation of joint mobility, Fail... |
ORPHA:337 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... |
OMIM:163800 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... |
OMIM:612124 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... |
ORPHA:168796 |
| Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... |
OMIM:608569 |
| Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... |
OMIM:613172 |
| Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
| Metatropic Dysplasia |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... |
OMIM:156530 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure |
OMIM:192600 |
| Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
| Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
| Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
| Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 1G |
|
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... |
OMIM:604145 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... |
OMIM:613424 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... |
OMIM:610476 |
| Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... |
ORPHA:45453 |
| Atrial Standstill 1 |
|
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... |
OMIM:108770 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Hyperconvex toenail, Equinovarus deformity, Abnormal hair morphology, Diffi... |
ORPHA:319195 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Cardiomyopathy, Dilated, 1Z |
|
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure |
OMIM:611879 |
| Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
| Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... |
OMIM:600884 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
| Ventricular Tachycardia, Familial |
|
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy |
OMIM:192605 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
| Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Pes ... |
OMIM:251450 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Respiratory insufficiency, Generalized hyperpigmentation, Generalized hirsutism, ... |
ORPHA:2812 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... |
OMIM:600561 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... |
ORPHA:99105 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... |
OMIM:612158 |
| Winchester Syndrome |
|
Carpal osteolysis, Osteolysis involving tarsal bones, Hirsutism, Generalized osteoporosis, Broad ... |
OMIM:277950 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... |
OMIM:613980 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Hand clenching, Arthrogryposis multiplex congenita, Difficulty walking, Inability to walk, Microg... |
OMIM:611890 |
| Long Qt Syndrome 13 |
|
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... |
OMIM:613485 |
| Odontochondrodysplasia 1 |
|
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... |
OMIM:184260 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... |
ORPHA:3286 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Failure to thrive, Kyphoscoliosis, Joint hypermobility, Amelogenesis imperf... |
OMIM:614727 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Preaxial foo... |
ORPHA:1988 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Limitation of joint mobility, Respiratory insufficiency, Death in infancy, Joint hypermobility, T... |
ORPHA:157973 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... |
OMIM:220150 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Type I diabetes mellitus, Spar... |
ORPHA:1133 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Systolic anterior motion of the mitral valve, Cardiomyocyte hypertrophy, Palpitations, Mitral reg... |
OMIM:620236 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... |
ORPHA:93323 |
| Flynn-Aird Syndrome |
|
Alopecia, Joint stiffness, Increased bone density with cystic changes, Alopecia of scalp, Kyphosc... |
OMIM:136300 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... |
OMIM:200700 |
| Cardiomyopathy, Dilated, 2F |
|
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... |
OMIM:619747 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... |
OMIM:613251 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... |
OMIM:614916 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Short neck, Multiple pren... |
OMIM:616897 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula... |
ORPHA:228302 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Kyphosis, Short finger, Respiratory insufficiency, Sclerosis of skull base, Hip co... |
OMIM:313420 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Acrocapitofemoral Dysplasia |
|
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Brugada Syndrome 1 |
|
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... |
OMIM:601144 |
| Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Rhizomelia, Flared metaphysis, Respiratory insufficiency, Micrognathia, Epiphyseal stip... |
OMIM:215100 |
| Slc35A2-Cdg |
|
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Precocious puberty, Hypopigmen... |
ORPHA:356961 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... |
OMIM:611493 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... |
OMIM:611528 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Dysplasia of the femoral head, Micrognathia, Genu valgum, Limited elbow movement, Short neck, Fla... |
ORPHA:94068 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Ataxia, Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased L... |
OMIM:615558 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb ... |
ORPHA:93351 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... |
OMIM:608751 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... |
ORPHA:2779 |
| Progressive Pseudorheumatoid Dysplasia |
|
Platyspondyly, Joint contracture of the hand, Abnormal foot morphology, Camptodactyly of finger, ... |
OMIM:208230 |
| Atrial Standstill 2 |
|
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
| Long Qt Syndrome 2 |
|
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... |
OMIM:613688 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... |
ORPHA:1159 |
| Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... |
ORPHA:66529 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... |
OMIM:613693 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Thickened skin, Type I diabetes mellitus, Palmoplantar keratoderma, Premature graying of hair, Ab... |
ORPHA:1979 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... |
ORPHA:93284 |
| Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
| Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
| Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Small hand, Toe syndactyly, Broad-based gait, Short neck, Cachexia, Short foot, Decreased testicu... |
ORPHA:85293 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... |
ORPHA:422 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Loss of ambulation, Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:300717 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal epiphysis morphology, Abnormal metaphysis morphology, Reduced bone mineral density, Bowi... |
ORPHA:2501 |
| Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... |
ORPHA:3409 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... |
OMIM:115000 |
| Wolff-Parkinson-White Syndrome |
|
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... |
OMIM:194200 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Joint contracture of the hand, Micrognathia, Hip contracture, Generalized hirsutism, Talipes equi... |
OMIM:255800 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy, Abnormality of connective tissue, Respiratory insufficiency, Decreased ce... |
ORPHA:370968 |
| Stuve-Wiedemann Syndrome 1 |
|
Thin ribs, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones,... |
OMIM:601559 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Hypoplastic left heart, Ventricular septal defect, Bradycardia |
OMIM:616276 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis, Avascular necrosis of the capital femoral epiphysis |
OMIM:608805 |
| Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Small nail, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse hair, ... |
ORPHA:189 |
| Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... |
OMIM:614672 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia, Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Respiratory ... |
OMIM:135100 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... |
OMIM:613690 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Failure to thrive, Intrauterine growth retardation, Enamel hypoplasia, Brachydacty... |
OMIM:234250 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... |
OMIM:612098 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Micrognathia, Genu valgum, Fibular bowing, Death in childhood, Bowing of the long bone... |
OMIM:613848 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly, Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short hu... |
OMIM:619598 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance, Recurrent pneumonia, Deep longitudinal plantar crease, Joint contracture of t... |
OMIM:214150 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Joint stiffness, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogry... |
OMIM:617756 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Hypoglycemia, Intrauterine growth retardation, Micrognathia, Dysmetria, Abnormality of th... |
ORPHA:48431 |
| Renpenning Syndrome |
|
Alopecia, Abnormal hairshaft morphology, Thin eyebrow, Decreased testicular size, Joint stiffness... |
ORPHA:3242 |
| Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... |
ORPHA:3282 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Uretero... |
ORPHA:49041 |
| Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... |
OMIM:615184 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... |
ORPHA:240 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Hypoplastic ilia, Micromelia, Respiratory insufficiency, Joint stiffness, Femoral ... |
ORPHA:1860 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight l... |
ORPHA:100024 |
| Flynn-Aird Syndrome |
|
Alopecia, Joint stiffness, Primary adrenal insufficiency, Type II diabetes mellitus, Abnormality ... |
ORPHA:2047 |
| Prieto Syndrome |
|
Clinodactyly, Radial deviation of finger, 11 pairs of ribs, Inguinal hernia, Cryptorchidism, Tali... |
OMIM:309610 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
| Zimmermann-Laband Syndrome 3 |
|
Short distal phalanx of finger, Facial hypertrichosis, Aplasia of the distal phalanx of the 5th t... |
OMIM:618658 |
| Warburg Micro Syndrome 1 |
|
Facial hypertrichosis, Failure to thrive, Hypertrichosis, Overlapping toe, Micrognathia, Cryptorc... |
OMIM:600118 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... |
OMIM:615441 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Small for gestational age, Reduced bone mineral density, Inguinal hernia, Decreased body weight, ... |
OMIM:618392 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia, Abnormal B cell coun... |
OMIM:617514 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... |
OMIM:609040 |
| Osteogenesis Imperfecta, Type Xiii |
|
Decreased body weight, Generalized hirsutism, Arachnodactyly, Dislocated radial head, Wide distal... |
OMIM:614856 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Limited wrist movement, ... |
OMIM:127300 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... |
OMIM:607450 |
| Chylomicron Retention Disease |
|
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... |
OMIM:246700 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Abnormality of the vertebral column, Type A brachydactyly, Rad... |
OMIM:112910 |
| Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... |
OMIM:604169 |
| Mucopolysaccharidosis, Type Iva |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... |
OMIM:253000 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Finger clinodactyly, Inguinal hernia, Cryptorchidism, Supernumerary ribs, Patellar subluxation, B... |
ORPHA:2958 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Cantu Syndrome |
|
Platyspondyly, Erlenmeyer flask deformity of the femurs, Broad hallux, Umbilical hernia, Long eye... |
OMIM:239850 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Inability to walk, Failure to thrive in infancy, Intrauterine growth retardation, Hip... |
OMIM:616801 |
| Cardiomyopathy, Dilated, 1Nn |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... |
OMIM:615916 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed thelarche, Dorsocervical fat pad, Low anterior hairline, Joint hypermobility, Short neck,... |
OMIM:616033 |
| Cardiomyopathy, Dilated, 1Oo |
|
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... |
OMIM:620247 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Abnormal epiphysis morphology, Slender long bone, Carpal osteolysis, Camptodactyly o... |
ORPHA:2774 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Alopecia, Coarse metaphyseal trabecularization, Abnormal form of the vertebr... |
ORPHA:93160 |
| Schwartz-Jampel Syndrome |
|
Arthrogryposis multiplex congenita, Abnormality of the ureter, Micrognathia, Genu valgum, Hip con... |
ORPHA:800 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Cryptorchidism, Encephalocele, Flat acetabular roof, Patent ductus arteriosus, Spars... |
OMIM:616300 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Inability to walk, Pes cavus, Ankle clonus, Gait disturbance, Joint contracture, Scoliosis, Kyphosis |
OMIM:611225 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Alopecia, Rickets, Bulging epiphyses, Elevated circulating parat... |
OMIM:600785 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Hypopigmentation of the skin, Albinism, Osteoporosis, Hypopigmentation of hair, Ky... |
ORPHA:2786 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Death in childhood, Hypoplasia of the thymus |
OMIM:200900 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Atrial fibrillation, Sudd... |
OMIM:607554 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Nail dystrophy, Absent eyelashes, Hypothyroidism, Absent eyebrow, Thin nail, O... |
OMIM:618625 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones... |
OMIM:271530 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Atelosteogenesis Type I |
|
Platyspondyly, Rhizomelia, Abnormal pancreatic duct morphology, Absent or minimally ossified vert... |
ORPHA:1190 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval |
OMIM:220400 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Moynahan Syndrome |
|
Alopecia, Hypogonadism, Cachexia, Sparse hair, Hyperkeratosis |
ORPHA:2574 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Proteus Syndrome |
|
Depigmentation/hyperpigmentation of skin, Mandibular hyperostosis, Cerebriform connective tissue ... |
OMIM:176920 |
| Short Qt Syndrome 1 |
|
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... |
OMIM:609620 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Abnormality ... |
ORPHA:69125 |
| Christianson Syndrome |
|
Thick eyebrow, Gait ataxia, Death in early adulthood, Joint hypermobility, Cachexia, Adducted thu... |
ORPHA:85278 |
| Majeed Syndrome |
|
Metaphyseal irregularity, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegaly, Increased... |
ORPHA:77297 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Rhizomelia, Short tibia, Sanda... |
OMIM:607143 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Alopecia totalis, Death in childhood, Hyperpigmentation of the skin, Abnormality of... |
OMIM:302000 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Extensor Tendons Of Finger Anomalies |
|
Osteoporosis, Multiple lipomas, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:3294 |
| Ullrich Congenital Muscular Dystrophy |
|
Slender finger, Hip dislocation, Elbow flexion contracture, Wrist hypermobility, Micrognathia, In... |
ORPHA:75840 |
| Bent Bone Dysplasia Syndrome 2 |
|
Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor... |
OMIM:620076 |
| Parastremmatic Dwarfism |
|
Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis |
OMIM:168400 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
| Camurati-Engelmann Disease |
|
Limitation of joint mobility, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Pe... |
ORPHA:1328 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Broad-based gait, Clinodactyly, Micrognathia, Decreased body weight, Short neck, Sparse hair, Sle... |
ORPHA:391408 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia |
OMIM:619048 |
| Atelosteogenesis, Type I |
|
Radial bowing, Fibular aplasia, Micrognathia, Cryptorchidism, Encephalocele, Neonatal death, Tali... |
OMIM:108720 |
| Hyperekplexia 4 |
|
Umbilical hernia, Inguinal hernia, Kyphoscoliosis, Talipes equinovarus, Distal arthrogryposis, Ad... |
OMIM:618011 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Patchy palmoplantar hyperkeratos... |
ORPHA:317 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Nephrotic syndrome, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Hepatic calcification, Hepatomegaly, Myoglobinur... |
ORPHA:157 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... |
OMIM:603830 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobility, Sparse body ha... |
ORPHA:177 |
| Achondroplasia |
|
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Femoral bowing, Limited elbo... |
OMIM:100800 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Finger synda... |
ORPHA:2251 |
| Mucopolysaccharidosis, Type Ivb |
|
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Ataxia, Bilateral talipe... |
OMIM:253010 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Intr... |
ORPHA:1972 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Broad foot, Neonatal death, Short neck, Short foot, Patent ductus arteriosu... |
OMIM:269860 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Failure to thrive, Respiratory insufficiency, Death in childhood, Joint contracture, Respiratory ... |
OMIM:616081 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal fingernail morphol... |
ORPHA:2722 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... |
ORPHA:174 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hyperpigmentation, Type II diabetes mellitus, Generalized hirsutism, Delayed puberty,... |
ORPHA:2297 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Equinovarus deformity, Micrognathia, Genu valgum, Short neck, Bro... |
ORPHA:56304 |
| Cranioectodermal Dysplasia |
|
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Abn... |
ORPHA:1515 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Thickened skin, Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal jo... |
OMIM:259600 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Insulin-resistant diabetes mellitus, Iv... |
OMIM:226980 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Short distal phalanx of finger, Brachydactyly, Joint hypermobility |
ORPHA:2787 |
| Familial Progressive Cardiac Conduction Defect |
|
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block |
ORPHA:871 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
| Nail-Patella Syndrome |
|
Toenail dysplasia, Equinovarus deformity, Talipes calcaneovalgus, Abnormal tibia morphology, Cont... |
ORPHA:2614 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Increased serum serotonin, Small for gestational age, Hirsutism, Talipes equinovarus, Congenital ... |
ORPHA:85288 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bones, Sho... |
ORPHA:1106 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Abnormal vertebral morphology, Renal hypoplasia, Fine hair, Recurrent hypoglycemia, Intrauterine ... |
OMIM:616817 |
| Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... |
OMIM:615248 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atlantoaxial dislocation, Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Talipes eq... |
ORPHA:536467 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... |
OMIM:192500 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Large for gestational age, Hypoketotic hypoglycemia, ... |
ORPHA:293964 |
| Shashi-Pena Syndrome |
|
Highly arched eyebrow, Unilateral renal agenesis, Hypoglycemia, Hypertrichosis, Long eyelashes, I... |
OMIM:617190 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hypospadias, Cone-shaped epiphysis, Fair hair, Intrauterine growth retardation, Obesity, Congenit... |
OMIM:614613 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino... |
OMIM:613330 |
| Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... |
ORPHA:3193 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hypoplastic scapulae, Small nail, Finger syndactyly, Micrognathia, Parakeratosis, 2-5 finger synd... |
OMIM:308050 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, Hepatic calcifica... |
ORPHA:228308 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Sparse body hair, Ichthyosis, Brachydactyly, Split hand, Aplasia/Hypoplasia of the eyeb... |
ORPHA:2850 |
| Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:601005 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Generalized hyper... |
ORPHA:2930 |
| Hip Dysplasia, Beukes Type |
|
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... |
ORPHA:2114 |
| Short Qt Syndrome 3 |
|
Tachycardia, Palpitations, Shortened QT interval |
OMIM:609622 |
| Hyperparathyroidism, Transient Neonatal |
|
Thin ribs, Unilateral renal agenesis, Fractured rib, Hyperparathyroidism, Osteopenia, Metaphyseal... |
OMIM:618188 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Micrognathia, Cryptorchidism, Hip contractu... |
OMIM:210710 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint h... |
ORPHA:40 |
| Sialidosis Type 2 |
|
Nephropathy, Umbilical hernia, Inguinal hernia, Splenomegaly, Ataxia, Osteoporosis, Flexion contr... |
ORPHA:87876 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Hand clenching, Abnormal foot morphology, Respiratory insufficiency, Micrognathia, Neonatal death... |
OMIM:618186 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Pigmentary retinopathy, Central heterochromia, Decreased response to growth hormone sti... |
OMIM:275400 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hypopigmentation of the skin, Dystrophic toenail, Palmoplantar blistering, Failure to thrive, Abn... |
ORPHA:89838 |
| Congenital Myopathy 10A, Severe Variant |
|
Failure to thrive, Respiratory insufficiency, Camptodactyly of finger, Talipes equinovarus, Scoli... |
OMIM:614399 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... |
OMIM:177170 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... |
OMIM:612447 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... |
OMIM:619924 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Small nail, Clinodactyly, Frontal upsweep of hair, Pes planus, Symphalangism of the thumb, Short ... |
OMIM:620494 |
| Diastrophic Dysplasia |
|
Hypoplastic cervical vertebrae, Micrognathia, Cryptorchidism, Bowing of the long bones, Abnormal ... |
ORPHA:628 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Waddling gait, Reduced bone mine... |
OMIM:617974 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
| Werner Syndrome |
|
Small hand, Premature graying of hair, Slender build, White forelock, Type II diabetes mellitus, ... |
ORPHA:902 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hypoplastic cervical vertebrae, Sparse eyelashes, Talipes equinovarus, Patellar dislocation, Neon... |
ORPHA:35173 |
| Pseudopseudohypoparathyroidism |
|
Obesity, Pseudohypoparathyroidism, Short neck, Enamel hypoplasia, Brachydactyly, Osteoporosis, Sh... |
OMIM:612463 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Joint stiffness, Cachexia |
ORPHA:1144 |
| Cardiomyopathy, Dilated, 1Y |
|
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:611878 |
| Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism, Hyperlordosis, Osteoporosis, Scoliosis |
ORPHA:408 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Clinodactyly, Failure to thrive, Hypoglycemia, Hypogonadism, Small placenta, ... |
ORPHA:73272 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... |
ORPHA:1055 |
| 19Q13.11 Microdeletion Syndrome |
|
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Sparse lateral eyebrow, Fine hair, ... |
ORPHA:217346 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... |
OMIM:612347 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Abnormal lower limb bone morphology, Increased susceptibility to fractures, Joint hyp... |
ORPHA:2788 |
| Brugada Syndrome 3 |
|
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... |
OMIM:611875 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... |
ORPHA:300751 |
| Immunodeficiency, Common Variable, 5 |
|
Abnormal T cell count, Abnormal B cell count |
OMIM:613495 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Nephrocalcinosis, Failure to thrive, Hypoglycemia, Intrauterine growth retardation, K... |
OMIM:618005 |
| Mcdonough Syndrome |
|
Micrognathia, Cryptorchidism, Cachexia, Scoliosis, Kyphosis, Synophrys |
ORPHA:2471 |
| Langer Mesomelic Dysplasia |
|
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Lumbar hyperlordosis, ... |
OMIM:249700 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse pubic hair, Sparse scalp hair, Sparse axillary hair, Perifollicular hyperkeratosis |
ORPHA:505 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Cardiac arrest, Bradycardia |
OMIM:618235 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cellulitis, Micrognathia, Cryptorchidism, Low posterior hairline, Ventral hernia, Short neck, Pes... |
OMIM:618000 |
| Silver-Russell Syndrome |
|
Insulin resistance, Hypospadias, Premature adrenarche, Precocious puberty, Lower limb asymmetry, ... |
ORPHA:813 |
| Long Qt Syndrome 14 |
|
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... |
OMIM:616247 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Pigmentary retinopathy, Decreased response to growth hormone stimulation test, Hypogona... |
ORPHA:3363 |
| Waardenburg Syndrome Type 3 |
|
Synostosis of carpal bones, Tracheomalacia, Atelectasis, White hair, Camptodactyly of finger, Cut... |
ORPHA:896 |
| Short Qt Syndrome 7 |
|
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death |
OMIM:620231 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, Cervical lymp... |
OMIM:618987 |
| Bruck Syndrome 1 |
|
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased... |
OMIM:259450 |
| Mycetoma |
|
Abnormal form of the vertebral bodies, Structural foot deformity, Abnormal forearm bone morpholog... |
ORPHA:2583 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Cantú Syndrome |
|
Finger syndactyly, Low posterior hairline, Generalized hirsutism, Short neck, Short hallux, Paten... |
ORPHA:1517 |
| Thumb Deformity And Alopecia |
|
Alopecia, Increased groin pigmentation with raindrop depigmentation, Short thumb |
OMIM:188150 |
| Ruijs-Aalfs Syndrome |
|
Clinodactyly, Premature graying of hair, Elbow flexion contracture, Hypogonadism, Micrognathia, D... |
OMIM:616200 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Broad-based gait, Tip-toe gait, Pes cavus, Hip contracture, Knee flexion contracture, Distal lowe... |
OMIM:615290 |
| Menkes Disease |
|
Alopecia, Hypopigmentation of the skin, Metaphyseal spurs, Intrauterine growth retardation, Death... |
OMIM:309400 |
| Bruck Syndrome |
|
Platyspondyly, Arthrogryposis multiplex congenita, Respiratory insufficiency, Joint stiffness, Re... |
ORPHA:2771 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Alopecia, Clubbing of toes, Broad distal phalanx of finger, Abnormal epiph... |
ORPHA:3051 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Micrognathi... |
OMIM:251230 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Hand clenching, Hip dislocation, Congenital hip dislocation, Arthrogryposis multiplex congenita, ... |
OMIM:618291 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Limited knee flexion/extension, Respiratory insufficiency, Inability to walk, Limited elbow flexi... |
ORPHA:266 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broa... |
OMIM:620639 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature adrenarche, Small hand, Absence of pubertal development, Type II diabetes mellitus, Cry... |
ORPHA:398079 |
| Insulin Autoimmune Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk... |
ORPHA:411593 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Decreased body... |
OMIM:271640 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Supernumerary nipple,... |
OMIM:605274 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Precocious costochondral ossification... |
OMIM:271630 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sandwich appearance of vertebral bodies, Hydroxyprolinuria, Sclerosi... |
OMIM:602080 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Abnormality of the costochondral junction, Small nail, Short tibia, Thumb c... |
ORPHA:96334 |
| Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... |
OMIM:603546 |
| Hyaline Fibromatosis Syndrome |
|
Osteopenia, Thickened skin, Failure to thrive, Progressive flexion contractures, Osteoporosis, Fl... |
OMIM:228600 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... |
ORPHA:75566 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Premature graying of hair, Pancytopenia, Cryptorchidism, Urethral stricture, Neu... |
OMIM:613990 |
| Pelizaeus-Merzbacher Disease |
|
Respiratory insufficiency, Failure to thrive in infancy, Joint stiffness, Cachexia, Gait disturba... |
ORPHA:702 |
| Short Stature Due To Ghsr Deficiency |
|
Hypoglycemia, Abnormality of body weight, Decreased body weight, Decreased serum insulin-like gro... |
ORPHA:314811 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria, Progressive cerebellar ataxia |
ORPHA:67046 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Elbow flexion contracture, Me... |
ORPHA:93333 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... |
ORPHA:3329 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Small hand, Elbow flexion contracture, Intrauterine growth retardation, Micrognathia, Tapered dis... |
ORPHA:371364 |
| Hajdu-Cheney Syndrome |
|
Thickened skin, Micrognathia, Decreased skull ossification, Generalized hirsutism, Absent frontal... |
ORPHA:955 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Short toe, Short finger, Low urinary cyclic AMP r... |
OMIM:103580 |
| Mehmo Syndrome |
|
Male hypogonadism, Hypoglycemia, Difficulty walking, Decreased response to growth hormone stimula... |
OMIM:300148 |
| Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Hyp... |
OMIM:613849 |
| Macs Syndrome |
|
Alopecia, Sparse eyebrow, Umbilical hernia, Micrognathia, Cryptorchidism, Ichthyosis, Decreased b... |
OMIM:613075 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... |
ORPHA:166011 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Alopecia universalis, Subperiosteal bone resorption, Rickets, Bu... |
OMIM:277440 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia, Hypogonadotropic hypogonadism |
OMIM:615269 |
| Farber Disease |
|
Recurrent upper respiratory tract infections, Short toe, Atelectasis, Abnormal foot morphology, S... |
ORPHA:333 |
| Diencephalic Syndrome |
|
Long penis, Decreased body weight, Cachexia, Large hands, Abnormality of the hypothalamus-pituita... |
ORPHA:1672 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t... |
OMIM:617294 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Failure to ... |
ORPHA:1842 |
| Asbestos Intoxication |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... |
ORPHA:2302 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin ribs, Thickened skin, Micrognathia, Flexion contracture of finger, Short foot, Sparse hair, ... |
OMIM:601812 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Broad-based gait, Insulin-resistant diabetes mellitus, Microcytic anemia, Micrognathia, Low poste... |
ORPHA:2959 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... |
OMIM:617912 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Cone-shaped epiphyses of the middle phalanges of the hand, Osteopenia, Sparse latera... |
OMIM:190351 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Joint contracture of the hand, Pigmentary retinopathy, Failure to thrive, Intraute... |
OMIM:214110 |
| Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
| Pachydermoperiostosis |
|
Thickened skin, Small hand, Clubbing of toes, Palmoplantar keratoderma, Abnormal epiphysis morpho... |
ORPHA:2796 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Micrognathia, Cryptorchidism, Prenatal death, Neonatal death, Short neck, Campt... |
OMIM:618393 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Generalized osteoporosis, Homocystinuria, Hypopigmentation of the skin, Limitation of joint mobil... |
OMIM:236200 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Umbilical hernia, Vesi... |
OMIM:619217 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... |
ORPHA:93360 |
| Immunodeficiency 48 |
|
Failure to thrive, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with p... |
OMIM:269840 |
| Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Absence of ... |
ORPHA:79106 |
| Hajdu-Cheney Syndrome |
|
Micrognathia, Genu valgum, Fibular bowing, Cryptorchidism, Absent frontal sinuses, Crowded carpal... |
OMIM:102500 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... |
ORPHA:3344 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Gout, Type II diabetes mellitus, Osteoporosis, Impaired glucose tolerance |
OMIM:610947 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... |
ORPHA:79404 |
| Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
| Perrault Syndrome 1 |
|
Pes cavus, Gait ataxia, Talipes equinovarus, Ataxia, Increased circulating gonadotropin level, Os... |
OMIM:233400 |
| Orofaciodigital Syndrome Type 10 |
|
Aplasia/Hypoplasia of the nails, Polysyndactyly of hallux, Radial deviation of the hand, Short ti... |
ORPHA:2756 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Toe syndactyly, Failure to thrive, Hypoglycemia, Intrauterine growth retardation, ... |
OMIM:618958 |
| Long Qt Syndrome 10 |
|
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... |
OMIM:611819 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Broad-based gait, Neonatal respiratory distress, Elevated circulating thyroid-stimulating hormone... |
OMIM:610978 |
| Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism |
|
Alopecia, Generalized hypoplasia of dental enamel, Cutaneous finger syndactyly, Thoracic kyphosco... |
OMIM:203550 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Thickened skin, Micromelia, Failure to thrive, Camptodactyly of finger, Osteomalacia,... |
ORPHA:2176 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... |
ORPHA:2370 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Broad ribs, Intrauterine growth retardation, Overlapping fingers, Micrognathia, Femor... |
OMIM:617022 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricul... |
OMIM:212138 |
| Ivic Syndrome |
|
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... |
OMIM:147750 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hyp... |
ORPHA:79397 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Bone marrow hypocellularity, Osteopenia, Fine hair, Premature graying of hair, Short femo... |
OMIM:612199 |
| Alopecia Areata 1 |
|
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Glycogen Storage Disease Xv |
|
Cardiomyocyte hypertrophy, T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibr... |
OMIM:613507 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short toe, Cervical spinal canal stenosis, Wid... |
OMIM:301900 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis, Arthritis |
ORPHA:139436 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy, Failure to thrive, Osteoporosis, Scoliosis, Kyphosis |
OMIM:618234 |
| Geroderma Osteodysplasticum |
|
Platyspondyly, Osteopenia, Abnormal hair morphology, Hyperextensibility of the finger joints, Fem... |
OMIM:231070 |
| Bronchopulmonary Dysplasia |
|
Atelectasis, Emphysema, Abnormal lung morphology, Tracheobronchomalacia, Pulmonary sequestration,... |
ORPHA:70589 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Metatropic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecu... |
ORPHA:2635 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... |
ORPHA:99103 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:203655 |
| Orofaciodigital Syndrome Viii |
|
Recurrent aspiration pneumonia, Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Decreased calvarial ossification, Micrognathia, Absent gallbla... |
OMIM:617925 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Gait ataxia, Cachexia, Weight loss |
OMIM:612075 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Autoamputation of digits, Ichthyosis, Nail dystrophy, Diffuse palmoplantar hyperkeratosis, Flexio... |
ORPHA:79503 |
| Bresek Syndrome |
|
Alopecia, Renal hypoplasia, Decreased testicular size, Intrauterine growth retardation, Vesicoure... |
ORPHA:85284 |
| Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum... |
OMIM:276950 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation |
OMIM:612956 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Cryptorchidism, Broad foot, ... |
OMIM:300998 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis |
OMIM:610753 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Osteolysis, Autoamputation of digits, Ichthyosis... |
ORPHA:494 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Camptodactyly of finger, Alopecia totalis, Nail dystrophy, Nail dysplasia, Palmoplantar hyperkera... |
OMIM:212360 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Micrognathia, Genu valgum, Cryptorchidism, Hematuria, Patellar dislocation, Proxima... |
ORPHA:534 |
| Congenital Myopathy 14 |
|
Elbow flexion contracture, Death in infancy, Knee flexion contracture, Hip contracture, Respirato... |
OMIM:618414 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer... |
ORPHA:254361 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Thin ribs, Atelectasis, Bilateral cryptorchidism, Glandular hypospadias, Penile hypospadias, Deat... |
OMIM:300219 |
| Cleidocranial Dysplasia |
|
Hypoplastic scapulae, Micrognathia, Genu valgum, Decreased skull ossification, Abnormal metacarpa... |
ORPHA:1452 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... |
ORPHA:93322 |
| Epidermolytic Palmoplantar Keratoderma |
|
Interphalangeal joint contracture of finger, Hypergranulosis, Abnormal fingernail morphology, Dif... |
ORPHA:2199 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Small hand, Hip dislocation, Hirsutism, Talipes equinovarus, Short foot, Scoliosis, Kyphosis |
OMIM:300434 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Cellulitis, Osteopenia, Atelectasis, Abnormal hair morphology, Osteomyelitis, Joint hypermobility... |
ORPHA:2314 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
| Congenital Myopathy 22A, Classic |
|
Respiratory insufficiency, Micrognathia, Knee contracture, Waddling gait, Hip contracture, Thorac... |
OMIM:620351 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Micrognathia, Deat... |
OMIM:608612 |
| Idiopathic Bronchiectasis |
|
Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Clubbing, Recurrent... |
ORPHA:60033 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Difficulty walking, Inability to walk, Respiratory insufficiency due to muscle weakness, Recurren... |
ORPHA:2590 |
| Seckel Syndrome |
|
Cone-shaped epiphysis, Sandal gap, Abnormal dental enamel morphology, Intrauterine growth retarda... |
ORPHA:808 |
| Endocardial Fibroelastosis |
|
Sandal gap, Hypoglycemia, Micrognathia, Cryptorchidism, Hypoplasia of penis, Anterior hypopituita... |
ORPHA:2022 |
| Rhyns Syndrome |
|
Chronic kidney disease, Osteopenia, Nephronophthisis, Radial bowing, Decreased response to growth... |
OMIM:602152 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... |
ORPHA:45452 |
| Ebstein Anomaly |
|
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... |
OMIM:224700 |
| Prader-Willi Syndrome |
|
Small hand, Clinodactyly, Hyperinsulinemia, Genu valgum, Frontal upsweep of hair, Cryptorchidism,... |
OMIM:176270 |
| Linear Verrucous Nevus Syndrome |
|
Genu recurvatum, Toe syndactyly, Reduced bone mineral density, Talipes, Hyperkeratosis, Scoliosis... |
ORPHA:2611 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormality of carpal bone ossification, Osteopenia, Failure to thrive, Generalized lipodystrophy... |
OMIM:608154 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Normocytic anemia, Sterile pyuria, Beta 2-microglobulinuria, Decreased glomerular ... |
ORPHA:91500 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, 11 pairs of ribs, Micrognathia, Fibular... |
OMIM:201170 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Micrognathia, Death in childhood, Osteopenia, Multiple bladder diverticula, Tracheomalacia, Ingui... |
OMIM:613177 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Kyphosis, Inability to walk, Lumbar hyperlordosis, Obesity, Talipes equinovarus... |
OMIM:616756 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Microphallus, Genu valgum, Delayed puberty, Abdominal obesity, Sparse hair, Neonatal hypoglycemia... |
ORPHA:631 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Hip dislocation, Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of... |
ORPHA:1005 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis |
OMIM:617574 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small hand, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidism, Increased... |
ORPHA:398069 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Osteoporosis |
ORPHA:71267 |
| Dyskeratosis Congenita |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Displacement of the urethral m... |
ORPHA:1775 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Respirato... |
OMIM:245400 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... |
OMIM:616007 |
| Geroderma Osteodysplastica |
|
Platyspondyly, Abnormal epiphysis morphology, Abnormal form of the vertebral bodies, Recurrent fr... |
ORPHA:2078 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... |
ORPHA:98754 |
| Proteus Syndrome |
|
Thickened skin, Pulmonary cyst, Rib exostoses, Finger syndactyly, Generalized hirsutism, Cachexia... |
ORPHA:744 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Joint stiffness, Cachexia |
ORPHA:1216 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Hypotension, Cardiac arrest, Bradycardia |
ORPHA:70587 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis |
OMIM:618453 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... |
ORPHA:79126 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Tip-toe gait, Elbow contracture, Difficulty walking, Calf muscle hypertrophy, Hyperlordosis, Thig... |
OMIM:606612 |
| Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Akinesia, Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arth... |
OMIM:619334 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Recurrent pneumonia, Respiratory insufficiency, Difficulty walking, Failure to thrive in infancy,... |
ORPHA:254875 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... |
OMIM:613000 |
| Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Failure to thrive, Hypoglycemia, Proteinuria, Delayed puberty, Osteoporosis |
ORPHA:369 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteomalacia, Micrognathia, Cryptorchidism, Short neck, Abnormal metacarpal morphology, Large han... |
ORPHA:2636 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Insulin-resistant diabetes mellitus, Premature graying of hair, Abn... |
ORPHA:79474 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Immunodeficiency 95 |
|
Recurrent viral pneumonia, Ground-glass opacification, Lymphopenia, Recurrent viral upper respira... |
OMIM:619773 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Pes planus, Muc... |
OMIM:184095 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Dysmetria, Cachexia, Ataxia, Urinary incontinence |
OMIM:618093 |
| Atrial Septal Defect, Ostium Primum Type |
|
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... |
ORPHA:99106 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... |
ORPHA:98793 |
| Osteogenesis Imperfecta |
|
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, Genu valgum, Dec... |
ORPHA:666 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia, Unsteady gait, Failure to thrive, Hypoglycemia |
OMIM:610090 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodacty... |
ORPHA:88630 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
| Parc Syndrome |
|
Absent eyelashes, Alopecia, Microretrognathia, Absent eyebrow |
OMIM:600331 |
| Sandestig-Stefanova Syndrome |
|
Highly arched eyebrow, Clinodactyly, Sparse medial eyebrow, Intrauterine growth retardation, Resp... |
OMIM:618804 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Type I diabetes mellitus, Carpal osteolysis, Abnormal form of the vertebral bodies, A... |
ORPHA:371428 |
| Temple Syndrome |
|
Precocious puberty, Small hand, Recurrent hypoglycemia, Decreased response to growth hormone stim... |
ORPHA:254516 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis, Recurrent aspiration pneumonia, Ataxia |
OMIM:619971 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular dysfunction, Hematuria, Decreased urine output, Renal tubular ... |
ORPHA:31826 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Frontal balding, Reduced subcutaneous adipose tissue, Thoracolumbar scoliosis, Patellar subluxati... |
ORPHA:3041 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... |
ORPHA:177904 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Alopecia, Small nail, Horseshoe kidney, Intrauterine growth retardation, Micrognathia, Inguinal h... |
ORPHA:166035 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph... |
ORPHA:198 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Failure to thrive in infancy, Decreased proportion ... |
OMIM:617241 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Rickets, Abnormality of subcutaneous fat tissue, Osteomalacia, Avascular necrosis of ... |
ORPHA:1901 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:253300 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... |
ORPHA:177901 |
| Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Elevated circulating phytanic acid concentration, Hypocholesterolemia, Ataxia |
OMIM:266510 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Proximal tubulopathy, Rickets, Failure to thrive, Mottled pigmentation ... |
OMIM:560000 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
| Baralle-Macken Syndrome |
|
Inability to walk, Obesity, Hirsutism, Pes planus, Acanthosis nigricans, Urinary incontinence, Ca... |
OMIM:619255 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Bradycardia |
OMIM:614702 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Failure to thrive, Premature graying of hair, Pancy... |
OMIM:613989 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hydroxyprolinuria, Failure to thrive, Increased bone mineral density, Recurrent fract... |
OMIM:239000 |
| Schaaf-Yang Syndrome |
|
Small hand, Rocker bottom foot, Arthrogryposis multiplex congenita, Clinodactyly, Inability to wa... |
OMIM:615547 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Brugada Syndrome 7 |
|
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... |
OMIM:613120 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Osteopenia, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large ... |
OMIM:615398 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... |
ORPHA:99104 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... |
OMIM:609945 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Micrognathia, Alopecia of scalp, Cryptorchidism, Reduced bone mineral ... |
ORPHA:2617 |
| Osteogenesis Imperfecta, Type Xxi |
|
Platyspondyly, Bowing of the arm, Joint hypermobility, Pes valgus, Pes planus, Coxa vara, Osteopo... |
OMIM:619131 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:171706 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Intrauterine growth retardati... |
ORPHA:2169 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Short femoral neck, Camptodactyly of finger, Lumbar hyperlordosis, B... |
ORPHA:2848 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, En... |
OMIM:134780 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Enlarged metaphyses, Micrognathia, Genu valgum, Congenital diaphragmatic hernia, Low posterior ha... |
OMIM:245600 |
| Kerion Celsi |
|
Alopecia, Lymphadenopathy |
ORPHA:499 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Hypomelanosis Of Ito |
|
Alopecia, Clinodactyly, Radial deviation of finger, Macular hypopigmented whorls, streaks, and pa... |
OMIM:300337 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Hypospadias, Joint stiffness, Arachnodactyly, Aplasia/Hypoplasia of the lungs, Abnormal testis mo... |
ORPHA:1548 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss, Abnormal gonadotropin-releasing hormone concentration |
ORPHA:90081 |
| Brugada Syndrome 2 |
|
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... |
OMIM:611777 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Omenn Syndrome |
|
Pneumonia, Thickened skin, Alopecia, Short toe, Failure to thrive, Abnormal lymphocyte morphology... |
ORPHA:39041 |
| Oculodentodigital Dysplasia |
|
Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Curly hair, Brittle ... |
ORPHA:2710 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... |
OMIM:618052 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Microp... |
OMIM:614880 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Intrauterine growth retardation, Micrognathia, Short neck, Mandibular aplasia, Respiratory failure |
ORPHA:1832 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Hip dislocation, Rhizomelia, Abnormal epiphysis morphology, Abnor... |
ORPHA:3098 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Biventricular... |
OMIM:261740 |
| Combined Immunodeficiency, X-Linked |
|
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... |
OMIM:312863 |
| Mirage Syndrome |
|
Aspiration pneumonia, Radial club hand, Lymphopenia, Overlapping fingers, Cryptorchidism, Decreas... |
OMIM:617053 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Nestor-Guillermo Progeria Syndrome |
|
Thin ribs, Micrognathia, Sparse eyelashes, Limited elbow movement, Alopecia, Sparse eyebrow, Spot... |
OMIM:614008 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Hip dislocation, Failure to thrive, Respiratory insufficiency, Slender build, Wrist hypermobility... |
OMIM:254090 |
| Alexander Disease Type I |
|
Cachexia, Scoliosis, Failure to thrive, Ataxia |
ORPHA:363717 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis, Alopecia of scalp, Kyphoscoliosis, Spastic ataxia, Gait disturbance, Cerv... |
ORPHA:199354 |
| Ring Chromosome 10 Syndrome |
|
Sandal gap, Intrauterine growth retardation, Micrognathia, Short neck, Cachexia, Tapered finger |
ORPHA:1438 |
| Riboflavin Transporter Deficiency |
|
Iris hypopigmentation, Respiratory insufficiency, Hypogonadism, Cachexia, Ataxia, Diabetes insipidus |
ORPHA:97229 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Osteomalacia, Hepatosplenomegaly, Genu valgum, Fibular bowing, Enamel hy... |
OMIM:307800 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Abnormal rib morpho... |
ORPHA:3082 |
| C1Q Deficiency 2 |
|
Atelectasis, Arthritis, Anemia, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... |
OMIM:262190 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypoglycemia, Aspiration pneumonia, Respiratory insufficiency, Intraut... |
OMIM:618253 |
| Wiedemann-Rautenstrauch Syndrome |
|
Thin ribs, Small nail, Clinodactyly, Micrognathia, Reduced subcutaneous adipose tissue, Cryptorch... |
OMIM:264090 |
| Tetrasomy 12P |
|
Sparse eyebrow, Joint hypermobility, Cachexia, Short neck, Sparse hair |
ORPHA:884 |
| Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... |
OMIM:304120 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... |
OMIM:617047 |
| Kyphomelic Dysplasia |
|
Platyspondyly, Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbe... |
OMIM:211350 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Increased adipose tissue around the neck, Insulin-resistant diabetes mellitus,... |
OMIM:248370 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... |
ORPHA:168549 |
| Osteogenesis Imperfecta, Type Iii |
|
Thin ribs, Dentinogenesis imperfecta, Wide anterior fontanel, Slender long bone, Micrognathia, Re... |
OMIM:259420 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-3 toe cutaneous syndactyly, Alopecia, Coarse hair, Small nail, Cutaneous finger syndactyly, Hyp... |
OMIM:613573 |
| Poems Syndrome |
|
Thickened skin, Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis ... |
ORPHA:2905 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hyperc... |
OMIM:615830 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hypopigmentation of the skin, Fair hair, Failure to thrive, Abnormal foot morphology,... |
OMIM:269920 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule |
OMIM:615327 |
| Bethlem Myopathy 2 |
|
Kyphosis, Atrophic scars, Distal joint hypermobility, Flexion contracture, Scoliosis, Hip disloca... |
OMIM:616471 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Aspiration pneumonia, Intrauterine grow... |
OMIM:619057 |
| Myopathic Ehlers-Danlos Syndrome |
|
Joint contracture of the hand, Micrognathia, Talipes equinovarus, Pes planus, Patellar subluxatio... |
ORPHA:536516 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormal vertebral morphology, Subluxation of the small joints of the hand, Micrognathia, Dysplas... |
ORPHA:536471 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Frontal upsweep of hair, Cryptorchidism, Joint hypermobility, Hydronephrosis, Microp... |
OMIM:617798 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Reduced subcutaneou... |
ORPHA:363400 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma, Pulmonary infiltrates |
ORPHA:64741 |
| Myhre Syndrome |
|
Thickened skin, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Enlarged vert... |
OMIM:139210 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Renal phosphate wasting, Difficulty walking, Fibular bowing, Ric... |
OMIM:241530 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Failure to thrive, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss, Ataxia |
OMIM:613662 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| 19P13.3 Microduplication Syndrome |
|
Precocious puberty, Clinodactyly, Intrauterine growth retardation, Micrognathia, Pes cavus, Kypho... |
ORPHA:447980 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Dystrophic toenail,... |
ORPHA:970 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis, Hypergran... |
OMIM:615598 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Atrophic scars, Kyphoscoliosis, Hernia, Joint hypermobility, Pes planus, Follicular h... |
ORPHA:300179 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Pes cavus, Gait ataxia, Dysmetria, Steppage gait, Ataxia, Flexion contracture, Scoliosis, Respira... |
OMIM:616505 |
| Premature Ovarian Failure 2B |
|
Osteoporosis, Delayed puberty |
OMIM:300604 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Osteopenia, Recurrent pneumonia, Failure to thrive, Hyperinsulinemia, Splenom... |
OMIM:613327 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Knee flexion cont... |
OMIM:600175 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Precocious puberty, Long penis, Hypertrichosis, Long foot, Hyperglyce... |
OMIM:246200 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hypoglycemia, Dicarboxylic aciduria, Distal arthrogryposi... |
ORPHA:42 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin ribs, Umbilical hernia, Long eyelashes, Micrognathia, Femoral bowing, Biconcave vertebral bo... |
OMIM:617952 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Lower limb asymmetry, Hypoglycemia, Intrauterine growth retardation, Clinodactyly of the 5th fing... |
ORPHA:231147 |
| Candidiasis, Familial, 1 |
|
Alopecia, Abnormality of the endocrine system |
OMIM:114580 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Lower limb asymmetry, Hypoglycemia, Decreased body weight, Polydactyly, Clinodactyly of the 5th f... |
ORPHA:231140 |
| Mandibuloacral Dysplasia |
|
Insulin resistance, Alopecia, Increased subcutaneous truncal adipose tissue, Contractures of the ... |
ORPHA:2457 |
| Pseudoprogeria Syndrome |
|
Cranium bifidum occultum, Alopecia, Sparse eyebrow, Failure to thrive, Joint stiffness, Decreased... |
ORPHA:2985 |
| Cdkl5-Deficiency Disorder |
|
Broad proximal phalanges of the hand, Difficulty walking, Hallux valgus, Gait disturbance, Scolio... |
ORPHA:505652 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Coarse hair, Camptodactyly of finger, Joint contracture of the 5th finger, Arachnodactyly, Hyperk... |
ORPHA:1883 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypoglycemia, Decreased response to growth hormone stimulation test, Panhypopituitari... |
ORPHA:95619 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia, Areflexia of lower limbs, Delayed pub... |
OMIM:615704 |
| Prolidase Deficiency |
|
Palmoplantar keratoderma, Abnormal fingernail morphology, Abnormal hip bone morphology, Micrognat... |
ORPHA:742 |
| Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Inability to walk, Microcytic anemia, Bone-marrow foam... |
OMIM:257200 |
| Ramon Syndrome |
|
Failure to thrive, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Genera... |
ORPHA:3019 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Slender build, Increased serum estradiol, Type II ... |
ORPHA:3455 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Amelia, Anterior encephalocele, Omphalocele, Scoliosis, Short femur |
OMIM:601357 |
| H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Hernia, Pes planus, Recurrent pharyngitis, Histiocytosis, ... |
ORPHA:168569 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Sparse body hair, Melanocytic nevus, Abnormal eyelash morphology, Sparse sc... |
ORPHA:1008 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypoglycemic seizures, Hypopigmentation of the skin, Failure to thrive, Decreased response to gro... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypoglycemic seizures, Hypopigmentation of the skin, Failure to thrive, Decreased response to gro... |
ORPHA:71526 |
| Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Recurrent tonsillitis, Hypopigmentation of the skin, Melanin pigment aggregatio... |
OMIM:214450 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Cachexia |
ORPHA:2576 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Short 5th finger, Ectrodactyly, Hypoplastic fingernail, Microphallus, Hypoglycemia, Intrauterine ... |
ORPHA:397590 |
| Laron Syndrome |
|
Short toe, Hypoglycemia, Micrognathia, Abnormality of the endocrine system, Delayed puberty, Brac... |
ORPHA:633 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Difficulty walking, Pes cavus, Talipes equinovarus, Respiratory insufficiency due to muscle weakn... |
OMIM:617087 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Osteopenia, Spar... |
ORPHA:2232 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Osteopenia, Alopecia, Hypopigmentation of the skin, Horseshoe kidney, Hypopho... |
OMIM:163200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Respiratory insufficiency, Inability to walk, Loss of ambulation, Gait disturbance,... |
OMIM:618241 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Insulin resistance, Male hypogonadism, Micrognathia, Cryptorchidism, Lipodystrophy, Loss of subcu... |
OMIM:615381 |
| Pyle Disease |
|
Platyspondyly, Absent paranasal sinuses, Genu valgum, Limited elbow extension, Reduced bone miner... |
OMIM:265900 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Increased circulating ACTH level, Obesity, Glucose intolerance, Biconcave vert... |
OMIM:219090 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Failure to thrive, Lymphopenia, B lymphocytopenia, Absent ... |
ORPHA:277 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Inability to walk, Abnormal glucose homeostasis, Respiratory failure, Respi... |
ORPHA:90117 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Failure to thrive, Respiratory insufficiency, Intrauterine gro... |
OMIM:609981 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Prader-Willi Syndrome |
|
Premature adrenarche, Small hand, Central adrenal insufficiency, Cryptorchidism, Short foot, Prec... |
ORPHA:739 |
| Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Palmoplantar keratoderma, Orthokeratotic hyperk... |
ORPHA:498359 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Abnormal ilium morphology, Micromelia, Respiratory insufficiency, Intrauterine gro... |
ORPHA:2655 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... |
ORPHA:166016 |
| Silver-Russell Syndrome 1 |
|
Urethral valve, Small for gestational age, Decreased response to growth hormone stimulation test,... |
OMIM:180860 |
| Nemaline Myopathy 8 |
|
Flexion contracture, Respiratory failure, Death in infancy |
OMIM:615348 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Increased mean corpuscular volume, Short thumb, Horseshoe kidney, Intrauterine growth... |
OMIM:612562 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Congenital knee ... |
OMIM:130060 |
| Gm1 Gangliosidosis |
|
Thickened skin, Aspiration pneumonia, Hepatosplenomegaly, Generalized hirsutism, Weight loss, Ata... |
ORPHA:354 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Low... |
ORPHA:280 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Prominent fingertip pads, Fine hair, Hypoglycemia, Long eyelashes, Narrow... |
ORPHA:231137 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Small pituitary gland, Alopecia, Melanocytic nevus, Central adrenal insufficiency, Reduced subcut... |
OMIM:612079 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Short toe, Decreased testicular size, Obesity, Hyperinsulinemia, Type II diabetes mellit... |
ORPHA:3085 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, I... |
ORPHA:2410 |
| Achondroplasia |
|
Flat acetabular roof, Cervical spinal canal stenosis, Obesity, Limited elbow extension, Knee join... |
ORPHA:15 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Congenital hip dislocation, Dislocation of the femoral head, Frontal upsweep of hair, Cryptorchid... |
OMIM:619797 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Female hypogonadism, Male hypogonadism, Sparse body hair, Absence of secondary sex ch... |
ORPHA:432 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Iris hypopigmentation, Abnormal eyebrow morphology, Joint hypermobility, Low poste... |
ORPHA:85194 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
| Fryns-Smeets-Thiry Syndrome |
|
Micrognathia, Patellar aplasia, Joint hypermobility, Arachnodactyly, Cachexia, Scoliosis, Hip dis... |
ORPHA:2058 |
| Meconium Aspiration Syndrome |
|
Neonatal asphyxia, Atelectasis, Transient pulmonary infiltrates, Aspiration pneumonia, Intrauteri... |
ORPHA:70588 |
| Rett Syndrome |
|
Gait ataxia, Cachexia, Gait apraxia, Truncal ataxia, Short foot, Scoliosis, Kyphosis |
OMIM:312750 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Recurrent pneumonia, Failure to thrive, Hypoplasia of the thymus, Impaired lymphocyte ... |
OMIM:300400 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Joint hypermobility, Missing ribs, Arachnodactyly, Hemiver... |
ORPHA:2759 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... |
ORPHA:440354 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal vertebral morphology, Alopecia, Toe syndactyly, Finger syndactyly, Supernumerary nipple,... |
ORPHA:3224 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia, Delayed puberty |
OMIM:615271 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... |
OMIM:602111 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Respiratory insufficiency, Neonatal death, Split hand, Ataxia, Respiratory failure |
OMIM:610127 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Irregular hyperpigmentation, Hyperkeratosis |
ORPHA:1336 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Osteopenia, Femoral bowing, Osteoporosis, Scoliosis, Recurrent fractures |
OMIM:126550 |
| Interatrial Communication |
|
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... |
ORPHA:1478 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... |
ORPHA:93307 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Respiratory failure, Death in infancy |
OMIM:225753 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Atelectasis, Polysplenia, Pulmonary situs ambiguus, Respiratory tr... |
ORPHA:244 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hyperpigmentation, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Hypomela... |
ORPHA:79399 |
| Ruvalcaba Syndrome |
|
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Hypopigmented skin pat... |
ORPHA:3121 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... |
OMIM:610921 |
| Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Delayed puberty, Hypoglycemia |
ORPHA:314802 |
| Omenn Syndrome |
|
Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Ly... |
OMIM:603554 |
| Whipple Disease |
|
Insulin resistance, Respiratory insufficiency, Pleuritis, Generalized hyperpigmentation, Splenome... |
ORPHA:3452 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, T-wave inversio... |
ORPHA:263297 |
| 15Q24 Microdeletion Syndrome |
|
Small hand, Clinodactyly, Congenital diaphragmatic hernia, Cryptorchidism, Hernia, Hypospadias, M... |
ORPHA:94065 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Abetalipoproteinemia, Eleva... |
ORPHA:96180 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Intestinal lymphangiectasia, Pulmonary lymphangiectasia, Camptodactyly, Osteoporosis, Pericardial... |
OMIM:616006 |
| Heart Defects-Limb Shortening Syndrome |
|
Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnormality of the p... |
ORPHA:1354 |
| Juvenile Paget Disease |
|
Coarse metaphyseal trabecularization, Cranial hyperostosis, Melanocytic nevus, Abnormality of ret... |
ORPHA:2801 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Micrognathia, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
| Hoxha-Aliu Syndrome |
|
Abnormal vertebral morphology, Overlapping toe, Absent toenail, Broad foot, Absent fifth metatars... |
OMIM:620662 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Cervical spinal canal stenosis, Spinal canal stenosis, Decreased response to growth hormone stimu... |
ORPHA:436174 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Recurrent Respiratory Papillomatosis |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis... |
ORPHA:60032 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis, Hypergonadotropic hypogonadism |
ORPHA:1014 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Brittle Cornea Syndrome |
|
Abnormal epiphysis morphology, Corneal scarring, Increased susceptibility to fractures, Abnormali... |
ORPHA:90354 |
| Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... |
OMIM:613426 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Abnormal epiphysis morphology, Spinal canal stenosis, Abnormal dental enamel morph... |
ORPHA:582 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Upper-limb joint contracture, Tip-toe gait, Difficulty walking, Inability to walk, Cachexia, Atax... |
ORPHA:300605 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Fibular aplasia, Micrognathia, Talipes equinovarus, ... |
ORPHA:56305 |
| Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:223500 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis, Palmoplantar blistering |
OMIM:131800 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Osteoporosis, Splenomegaly, Failure to thrive |
ORPHA:79301 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Inability to walk, Ataxia, Hypopigmentation of hair, Respiratory failure |
ORPHA:70472 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Flexion co... |
ORPHA:17 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Small hand, Sparse scalp hair, Premature graying of hair, Micrognathia, Cryptorchidism, Sparse ey... |
OMIM:268400 |
| Kury-Isidor Syndrome |
|
Alopecia, Finger syndactyly, Hypertrichosis, Hydronephrosis, Talipes equinovarus, Short neck, Bra... |
OMIM:619762 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Keloids, Palmoplantar keratoderma, Sparse body hair, Congenital o... |
ORPHA:2890 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Wide anterior fontanel, Rhizomelia, Lumbar hyperlordosis, Femoral bowing, Tibial b... |
OMIM:616482 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Difficulty walking, Fibular bowing, Secondary hyperparathyroidis... |
OMIM:264700 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Neutropenia, Recurren... |
OMIM:612541 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Cryptorchidism, Joint hypermobility, Pes valgus, Follicular hyperker... |
ORPHA:486815 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Slender finger, Homocystinuria, Methylmalonic aciduria, Failure to thrive, Pes planus, Gait distu... |
OMIM:250940 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Failure to thrive, Intrauterine growth retardation, Neonatal death, Flexion contracture, Kyphosis |
OMIM:618237 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Branchial cyst, Talipes, Short neck, Pes planus, Short hallux, Paten... |
ORPHA:508488 |
| Ck Syndrome |
|
Slender build, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology, Joint ... |
OMIM:300831 |
| Cardiofaciocutaneous Syndrome 3 |
|
Failure to thrive, Short neck, Hyperkeratosis, Curly hair, Scoliosis, Reduced bone mineral density |
OMIM:615279 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Hyperinsulinemia, Renal tubular dysfu... |
OMIM:606528 |
| Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Osteopenia, Absence of secondary sex characteristics, Breast hyp... |
ORPHA:785 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
| Hemochromatosis, Type 1 |
|
Alopecia, Azoospermia, Glucose intolerance, Pleural effusion, Splenomegaly, Hypogonadotropic hypo... |
OMIM:235200 |
| Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability... |
OMIM:607326 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Osteopenia, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Patholo... |
ORPHA:77259 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... |
OMIM:619313 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Generalized hyperpigmentation, Ichthyosis, Ab... |
ORPHA:816 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Tip-toe gait, Increased adipose tissue, Respiratory insufficiency, Gait disturbance, Hyperlordosi... |
OMIM:617404 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Stippled calcification in carpal bones, Sparse eyelashes, Short neck, Patellar dislocation, Bilat... |
OMIM:302960 |
| Classic Galactosemia |
|
Hypoglycemia, Gait imbalance, Cryptorchidism, Abnormal erythrocyte enzyme concentration or activi... |
ORPHA:79239 |
| Cockayne Syndrome B |
|
Dry hair, Square pelvis bone, Limitation of joint mobility, Abnormal hair morphology, Hypoplastic... |
OMIM:133540 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Difficulty walkin... |
OMIM:600081 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Hemophagocytosis, Melanin pigment aggregation in ... |
OMIM:607624 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Highly arched eyebrow, Small for gestational age, Arthrogryposis multiplex congenita, Umbilical h... |
OMIM:615834 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Hypereosinophilia, Parenchymal consolidation, Pleural effusion, Leukocytosis, Weight... |
ORPHA:2902 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Absent patellar reflexes, Difficulty walking, Inability to walk, F... |
ORPHA:70 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypogonadism, Genu valgum, Low posterior hairline, Short neck, Abnormal hair pattern, Spina bifid... |
ORPHA:2983 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Recurrent aspiration pneumonia |
OMIM:258865 |
| Ruvalcaba Syndrome |
|
Small hand, Micromelia, Limited elbow extension, Inguinal hernia, Cryptorchidism, Short phalanx o... |
OMIM:180870 |
| Tbck-Related Intellectual Disability Syndrome |
|
Clinodactyly, Respiratory insufficiency, Inability to walk, Decreased response to growth hormone ... |
ORPHA:488632 |
| 22Q11.2 Deletion Syndrome |
|
Hypopigmented skin patches, Micrognathia, Cryptorchidism, Arachnodactyly, Talipes equinovarus, Sh... |
ORPHA:567 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... |
ORPHA:163966 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Sho... |
OMIM:108950 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Kyphosis, Failure to thrive, Hip dysplasia |
OMIM:620007 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Methylmalonic aciduria, Generalized hirsutism, Cachexia, Ataxia |
ORPHA:1933 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba... |
OMIM:156550 |
| Amyotrophic Lateral Sclerosis 28 |
|
Difficulty walking, Respiratory failure |
OMIM:620452 |
| Sandhoff Disease |
|
Failure to thrive, Splenomegaly, Ataxia, Recurrent respiratory infections, Kyphosis |
ORPHA:796 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Abnormality of skin pigmentation |
ORPHA:315 |
| Eec Syndrome |
|
Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypospadias, Hyperkeratosis, ... |
ORPHA:1896 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Alopecia, Toe syndactyly, Sparse lateral eyebrow, Dystrophic toenail, Fing... |
ORPHA:3253 |
| Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hirsutism, Hypothyroidism, Osteoarthritis, Osteoporosi... |
ORPHA:77296 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Difficulty walking, Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of ... |
ORPHA:457395 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Neonatal asphyxia, Failure to thrive, Hypoglycemia, Hypertrichosis, Respiratory insufficiency, In... |
OMIM:608779 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Nail dystrophy, Nail dysplasia, Cachexia, Hyperpigmentation of the skin, Anemia, Clubbi... |
OMIM:175500 |
| Muscular Dystrophy, Congenital, 1B |
|
Achilles tendon contracture, Respiratory failure, Spinal rigidity |
OMIM:604801 |
| Menkes Disease |
|
Sparse hair, Thickened skin, Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilica... |
ORPHA:565 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing... |
ORPHA:93315 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... |
OMIM:616867 |
| Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia |
OMIM:240800 |
| Alpha-Mannosidosis |
|
Synostosis of joints, Craniofacial hyperostosis, Type II diabetes mellitus, Inguinal hernia, Sple... |
ORPHA:61 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Small nail, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchid... |
OMIM:617052 |
| Trisomy 20P |
|
Finger syndactyly, Abnormality of the ureter, Micrognathia, Cryptorchidism, Low posterior hairlin... |
ORPHA:261318 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Obesity, Absence of pubertal development, Cryptorchidism, Hypogonadotr... |
OMIM:610628 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Highly arched eyebrow, Joint contracture of the hand, Small for gestational age, Congenital contr... |
ORPHA:352490 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Cachexia, Neutropenia, Tubulointerstitial nephritis, Nephrotic syndrome, Autoimmune thrombocytope... |
ORPHA:37042 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Recurrent respiratory infections, Microretrognathia, Postaxial hand polydactyly |
ORPHA:1389 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Failure to thrive, Camptodactyly of finger, Intrauterine growth retardation, Talipes equinovarus,... |
OMIM:604320 |
| Aromatase Deficiency |
|
Delayed epiphyseal ossification, Osteopenia, Insulin resistance, Obesity, Genu valgum, Eunuchoid ... |
ORPHA:91 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Abnormality of the vertebral column, Failure to thrive, Respiratory insufficie... |
ORPHA:861 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
B Acute Lymphoblastic Leukemia, Failure to thrive, Pancytopenia, Splenomegaly, Increased proporti... |
OMIM:619824 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Hypertrichosis, Large for gestational age, Low anterior hairline, Hernia, Palmoplanta... |
ORPHA:363705 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased serum testosterone concentration, Hyperglycemia, Joint stiffness, Splenomegaly, Abnorma... |
ORPHA:465508 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... |
OMIM:618534 |
| Insulin-Resistance Syndrome Type B |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... |
ORPHA:2298 |
| Tenorio Syndrome |
|
Osteopenia, Recurrent pneumonia, Enuresis, Hypoglycemia, Hypertrichosis, Thick eyebrow, Joint hyp... |
OMIM:616260 |
| Trisomy 18 |
|
Microretrognathia, Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Intraut... |
ORPHA:3380 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... |
OMIM:184252 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o... |
ORPHA:2839 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormality of the ureter, Congenital diaphragmatic hernia, Cryptorchidism, Sh... |
ORPHA:2311 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Clinodactyly, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Osteoporosis |
OMIM:614838 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick eyebrow, Low posterior hairline, Gait disturbance, Thick hair, Truncal obesity, Scoliosis, ... |
ORPHA:2429 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Multiple small vertebral fractures, Flared metaphysis, Short 5th metacarpal, Short... |
OMIM:156510 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Intrauterine growth retardation, Cryptorchidism, 3-Methylglutaconic acid... |
ORPHA:1194 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Atelectasis, Respiratory insufficiency, Inability to walk, Decreased body weight, Increased conne... |
ORPHA:258 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Congenital diaphragmatic hernia,... |
ORPHA:2092 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal rigidity, Decreased mitochondrial number, Nephrolithiasis, Respiratory insufficiency due t... |
ORPHA:352447 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Rhizomelia, Deep plantar creases, Hypoglycemia, Umbilical hernia,... |
OMIM:616638 |
| Lethal Acantholytic Erosive Disorder |
|
Congenital alopecia totalis, Absent hair, Intrauterine growth retardation, Absent toenail, Absent... |
ORPHA:158687 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Small hand, Sandal gap, Hypogonadism, Decreased testicular size, Pes cavus, Gait ataxia, Cryptorc... |
OMIM:300354 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231226 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... |
ORPHA:175 |
| 3M Syndrome |
|
Thin ribs, Short neck, Hypoplastic ischia, Hypospadias, Increased vertebral height, Horizontal ri... |
ORPHA:2616 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Arthrogryposis multiplex congenita, Increased connective tissue, Adducted thumb, Multi... |
ORPHA:171430 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Muscular Dystrophy, Duchenne Type |
|
Tip-toe gait, Hamstring contractures, Knee flexion contracture, Loss of ambulation, Calf muscle h... |
OMIM:310200 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Tapered toe, Neonatal respiratory distress, Hypoglycemia, Abnormal foot morphology, Elbow flexion... |
OMIM:608836 |
| Alg1-Cdg |
|
Limitation of joint mobility, Renal insufficiency, Nephrotic syndrome, Respiratory failure, Scoli... |
ORPHA:79327 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Oligosacchariduria, Atelectasis, Failure to thrive, Difficulty walking, Inability to walk, Respir... |
ORPHA:365 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... |
ORPHA:1880 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Arrhythmia, Cardiomyopathy, Bradycardia |
OMIM:609286 |
| Bethlem Muscular Dystrophy |
|
Ankle flexion contracture, Cigarette-paper scars, Interphalangeal joint contracture of finger, Ca... |
ORPHA:610 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Increased lef... |
OMIM:620067 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Recurrent respiratory infections, Premature graying of hair, Aplasia/Hypoplasi... |
ORPHA:100 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, B lymp... |
OMIM:601457 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Abnormal epiphysis morphology, Abnormal hair morphology, Abnormality of the... |
ORPHA:3130 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Osteopenia, Female hypogonadism, Osteoporosis |
ORPHA:397685 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala... |
OMIM:271700 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Broad thumb, Short thumb, Cervical spinal canal stenosis, Broad hallux, Hypoglycemia, Micrognathi... |
OMIM:620224 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Arthrogryposis multiplex congenita, Cryptorchidism, Kyphoscoliosis, Ta... |
OMIM:618484 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Thickened skin, Recurrent upper respiratory tract infections, Oligosacchariduria, Umbilical herni... |
ORPHA:423461 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Incre... |
ORPHA:189427 |
| Costello Syndrome |
|
Ulnar deviation of finger, Abnormal hair morphology, Abnormal fingernail morphology, Abnormal den... |
ORPHA:3071 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Respiratory insufficiency, Abnormality of the spleen, Cach... |
ORPHA:93941 |
| Neuropathy, Hereditary Sensory, Type If |
|
Osteomyelitis, Metatarsal fracture, Osteolytic defects of the phalanges of the hand, Hallux valgu... |
OMIM:615632 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Renal hypoplasia, Intrauterine growth retardation, Nail dystrophy, Pulmona... |
ORPHA:75389 |
| Bronchogenic Cyst |
|
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal l... |
ORPHA:2357 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Sparse eyebrow, Broad-based gait, Hyperextensibility of the finger joints, Long hallux, Cryptorch... |
OMIM:309583 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hypoglycemia, Adrenal insufficiency, Renal insufficiency, Death in infancy, Lactic... |
OMIM:619386 |
| Partial Atrioventricular Septal Defect |
|
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... |
ORPHA:1330 |
| Squalene Synthase Deficiency |
|
Slender long bone, Elevated urine mesaconic acid level, Bilateral cryptorchidism, Elbow flexion c... |
OMIM:618156 |
| Intermediate Nemaline Myopathy |
|
Difficulty walking, Multiple prenatal fractures, Flexion contracture, Arthrogryposis multiplex co... |
ORPHA:171433 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Iris hypopigmentation, Small hand, Hypopigmentation of the skin, Obesity, Hypogonadotropic hypogo... |
ORPHA:177910 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Failure to t... |
OMIM:277170 |
| Hypophosphatasia |
|
Respiratory insufficiency, Emphysema, Failure to thrive in infancy, Bowing of the long bones, Abn... |
ORPHA:436 |
| Porphyria Cutanea Tarda |
|
Alopecia, Facial hypertrichosis, Scleroderma, Porphyrinuria, Onycholysis, Hyperpigmentation in su... |
OMIM:176100 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia, Acanthocytosis |
ORPHA:71 |
| Idiopathic Pulmonary Hemosiderosis |
|
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Ground-glass... |
ORPHA:99931 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ... |
OMIM:112350 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Hypoglycemia |
OMIM:609016 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Athetosis, Fine hair, Elbow flexion contracture, Intrauterine growth retardation, Ing... |
OMIM:614438 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia, Neonatal death |
OMIM:257100 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidi... |
OMIM:262700 |
| 2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypogonadism, Long eyelashes, Nephrolithiasis, Cystinuria |
ORPHA:163693 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Bradycardia |
OMIM:614407 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Intrauterine growth retardation, Beta-aminoisobutyric aciduria, Arthro... |
OMIM:615330 |
| Leigh Syndrome, Nuclear |
|
Pigmentary retinopathy, Failure to thrive, Respiratory insufficiency, Hypertrichosis, Ataxia, Res... |
OMIM:256000 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Clinodactyly, Broad distal phalanges of all fingers, Thin nail, Flattened... |
OMIM:218330 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Highly arched eyebrow, Hydranencephaly, Microretrognathia, Small for gestational age, Tracheomala... |
OMIM:620371 |
| Osteogenesis Imperfecta, Type Xxii |
|
Multiple small vertebral fractures, Dentinogenesis imperfecta, Slender long bone, Decreased circu... |
OMIM:619795 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Inability to walk, Joint hypermobility, Pes valgus, Follicular hyperkeratosis, Joint contracture,... |
OMIM:617066 |
| Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral ... |
ORPHA:2067 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cellulitis, Micrognathia, Cryptorchidism, Arachnodactyly, Ventral hernia, Pes planus, Hip disloca... |
ORPHA:536532 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Premature ventricular contraction, Tachycardia, Syncope |
OMIM:192445 |
| Cockayne Syndrome |
|
Dry hair, Difficulty walking, Absence of pubertal development, Reduced subcutaneous adipose tissu... |
ORPHA:191 |
| Immunodeficiency 27A |
|
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Pulmon... |
OMIM:209950 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Areas of hypopigmentation and hyperpigmentation that do no... |
OMIM:210720 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Failure to thrive, Hypoglycemia, 3-Methylglutaconic aciduria, Thrombocytop... |
ORPHA:67048 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Renal hypoplasia, Small for gestational age, Trichorrhexis ... |
ORPHA:84064 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Broad thumb, Irregular hyperpigmentation, Hypoglycemia, Micrognathia, Thyroid carcinoma, Joint hy... |
ORPHA:109 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Alopecia, Genu valgum, Osteolytic defects of the phalanges of the hand, Pes... |
OMIM:600705 |
| Schimke Immunoosseous Dysplasia |
|
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Talipes equinovarus, Short neck, Neutropeni... |
OMIM:242900 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Congenital hip dislocation, Sparse eyebrow, Recurrent pneumonia, Arthrogryposis multiplex congeni... |
ORPHA:496641 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Ataxia-Telangiectasia |
|
Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Recur... |
OMIM:208900 |
| Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... |
OMIM:607594 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar... |
OMIM:265120 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Failure to thrive, Broad ribs... |
ORPHA:583 |
| Catel-Manzke Syndrome |
|
Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Thin eyebrow, Intrauterine growth r... |
OMIM:616145 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... |
OMIM:616726 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... |
ORPHA:324575 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... |
ORPHA:93356 |
| Mucopolysaccharidosis, Type Vii |
|
Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Urinary glycosamin... |
OMIM:253220 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Arthrogryposis multiplex congenita, Clinodactyly, Respiratory insufficiency, Cryptorchidism, Shor... |
ORPHA:178148 |
| Pycnodysostosis |
|
Small hand, Acromelia, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, Short foot, Abno... |
ORPHA:763 |
| Occipital Horn Syndrome |
|
Platyspondyly, Coarse hair, Broad ribs, Ureteral obstruction, Genu valgum, Limited elbow extensio... |
OMIM:304150 |
| Omodysplasia 1 |
|
Rhizomelia, Short tibia, Limited knee flexion/extension, Umbilical hernia, Limited elbow flexion,... |
OMIM:258315 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormal vertebral morphology, Epiphyseal dysplasia, Limitation of joint mobility, Micrognathia, ... |
ORPHA:1427 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Thin ribs, Progressive congenital scoliosis, Recurrent pneumonia, Platyspondyly, Congenital hip d... |
OMIM:225400 |
| Glycogen Storage Disease Iv |
|
Portal hypertension, Cardiomyopathy, Bradycardia |
OMIM:232500 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Limitation of joint mobility, Micromelia, Respiratory insufficiency, Encephalocele... |
ORPHA:93274 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, Camptodactyly of 2nd-5th fingers, Equinovarus deformity, Deviation of the 2nd toe, Fi... |
OMIM:609128 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Broad distal phalanx of finger, Nephrocalcinosis, Micrognathia, Joint hypermobility, Talipes, Tal... |
OMIM:300990 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Broad distal phalanx of finger, Lower limb asymmetry, Sandal gap, Micrognathia, Low ... |
OMIM:615761 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Pulmonary hypoplasia, Micromelia, Horizontal ribs, Short ribs, Postaxial polyda... |
OMIM:617895 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly |
OMIM:246570 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Hypopigmented skin patches, Supernumerary nipple, Abnormal hair morphology, Ab... |
ORPHA:464 |
| Neu-Laxova Syndrome |
|
Osteopenia, Arthrogryposis multiplex congenita, Micromelia, Rickets, Osteomalacia, Abnormal hair ... |
ORPHA:2671 |
| Immunodeficiency 12 |
|
Decreased body weight, Death in adolescence, Abnormal lymphocyte count, Clubbing, Osteoporosis, R... |
OMIM:615468 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Alg12-Cdg |
|
Small nail, Recurrent hypoglycemia, Overlapping fingers, Micrognathia, Cryptorchidism, Low poster... |
ORPHA:79324 |
| Propionic Acidemia |
|
Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Hypoglycemia, Panc... |
OMIM:606054 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Small nail, Porokeratosis, Alopecia totalis, Sparse eyelashes, Aplasia/Hypoplasi... |
ORPHA:2909 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... |
OMIM:609813 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Fine hair, Melanocytic nevus, Pili torti, Abnormal limb bone morphology, Freckling, Brittle hair,... |
ORPHA:1573 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Lymph node ... |
OMIM:602450 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Plantar hyperkeratosis, Alopecia, Nail dystrophy |
OMIM:616487 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes mellitus, Low posterior hairline, S... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes mellitus, Low posterior hairline, S... |
ORPHA:99228 |
| Monosomy X |
|
Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes mellitus, Low posterior hairline, S... |
ORPHA:99226 |
| Turner Syndrome |
|
Hyperinsulinemia, Micrognathia, Genu valgum, Type II diabetes mellitus, Low posterior hairline, S... |
ORPHA:881 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormal vertebral morphology, Delayed epiphyseal ossification, Premature osteoarthritis, Hepatos... |
ORPHA:93352 |
| Immunodeficiency 9 |
|
Failure to thrive, Difficulty walking, Lymphopenia, Death in infancy, Hypoplasia of the thymus, A... |
OMIM:612782 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Epiphyseal dysplasia, Carpal synostosis, Dysplasia of the femoral head, Decreased body weight, Bo... |
OMIM:615349 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Osteopenia, Rickets, Glycosuria, Failur... |
ORPHA:2088 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Osteoporosis |
OMIM:204730 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... |
OMIM:618019 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Intrauterine growth retardation, Micrognathia, Splenomegaly, Tibial bowing, Abnorm... |
ORPHA:3035 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of endocrine pancreas physiology, Hypogonadism, Generalized hyperpigmentation, Osteop... |
ORPHA:79230 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia |
ORPHA:40366 |
| Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Failure to thrive, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepat... |
ORPHA:397596 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... |
OMIM:610021 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Platyspondyly, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydact... |
OMIM:263520 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Congenital ichthyosiform erythroderma, Nail dystrophy, Ichthyosis, Nail dysplasia, Para... |
OMIM:242300 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Immunodeficiency 62 |
|
Decreased proportion of memory B cells, Autoimmune thrombocytopenia, Increased proportion of tran... |
OMIM:618459 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... |
ORPHA:79299 |
| X-Linked Agammaglobulinemia |
|
Cellulitis, Alopecia, Recurrent pneumonia, Failure to thrive, Hypopigmented skin patches, Osteomy... |
ORPHA:47 |
| Marinesco-Sjogren Syndrome |
|
Kyphosis, Failure to thrive, Limb ataxia, Gait ataxia, Pes planus, Hypergonadotropic hypogonadism... |
OMIM:248800 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Short neck, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Flexion contracture,... |
OMIM:300718 |
| Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Arthrogryposis multiplex congenita, Failure to thrive, Ataxia |
ORPHA:2254 |
| Frank-Ter Haar Syndrome |
|
Genu recurvatum, Thickened skin, Camptodactyly of finger, Umbilical hernia, Osteolysis, Joint sti... |
ORPHA:137834 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... |
OMIM:618775 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Recurrent fractures, Kyphosco... |
OMIM:616507 |
| Congenital Myopathy 10B, Mild Variant |
|
Recurrent pneumonia, Elbow contracture, Difficulty walking, Knee contracture, Hyperlordosis, Achi... |
OMIM:620249 |
| Fibrochondrogenesis 1 |
|
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho... |
OMIM:228520 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Difficulty walking, Micrognathia, Arachnodactyly, Talipes equinovarus, Pes planus, Follicular hyp... |
ORPHA:536545 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
| Classic Mycosis Fungoides |
|
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal lymphocyte morphology... |
ORPHA:2584 |
| Albinism, Oculocutaneous, Type Iii |
|
Albinism, Red hair, Partial albinism |
OMIM:203290 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Proximal tubulopathy, Failure to thrive, Intrauterine growth retardati... |
OMIM:614576 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Talipes equinovarus, Pes planus, Patellar dislocation, Thoracic kyphoscoliosis, Hip dislocation, ... |
ORPHA:1900 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Aggressive Systemic Mastocytosis |
|
Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased pro... |
ORPHA:98850 |
| Osteogenesis Imperfecta, Type Ii |
|
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Respiratory i... |
OMIM:166210 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Death in infancy, Micropenis, Asplenia, Hypoplastic spleen |
OMIM:602361 |
| Short Syndrome |
|
Insulin resistance, Alopecia, Abnormal dental enamel morphology, Inguinal hernia, Joint hypermobi... |
ORPHA:3163 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adeno... |
OMIM:102700 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Congenital hip dislocation, Joint contracture of the hand, Difficulty walking, Thick eyebrow, Pes... |
OMIM:300280 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Intrauterine growth retardation, Increased level of methylsuccinic acid in uri... |
ORPHA:26792 |
| Free Sialic Acid Storage Disease |
|
Iris hypopigmentation, Abnormal foot morphology, Failure to thrive in infancy, Splenomegaly, Prot... |
ORPHA:834 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly |
OMIM:608776 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Large hands, Scoliosis, Kyphosis, Tapered finger |
ORPHA:276630 |
| Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
| Mantle Cell Lymphoma |
|
Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Masa Syndrome |
|
Shuffling gait, Pes cavus, Talipes equinovarus, Hyperlordosis, Adducted thumb, Kyphosis |
OMIM:303350 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Porokeratosis, Alopecia totalis, Patellar aplasia, Cryptorchidism, Neutropenia, ... |
ORPHA:221008 |
| Acheiropody |
|
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... |
OMIM:200500 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells |
OMIM:620282 |
| Stüve-Wiedemann Syndrome |
|
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion... |
ORPHA:3206 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Dentinogenesis imperfecta, Recurrent fractures, Bowing of limbs due to multiple fr... |
OMIM:259440 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Small hand, Small nail, Clinodactyly, Oligozoospermia, Short foot, Sparse hair, Short metacarpal,... |
OMIM:614813 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
| Campomelic Dysplasia |
|
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... |
OMIM:114290 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Hypopigmentation of the skin, Hypoglycemia, Umbilical hernia,... |
OMIM:301066 |
| Bathing Suit Ichthyosis |
|
Thickened skin, Alopecia, Autoamputation of digits, Nail dystrophy, Multiple joint contractures, ... |
ORPHA:100976 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity, Pes cavus, Loss of ambulation, Areflexia of lower limbs, Split hand, Ataxia, Unsteady ga... |
OMIM:618124 |
| Poland Syndrome |
|
Small hand, Acute leukemia, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of the sternum, Co... |
ORPHA:2911 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Patchy alopecia, Hyperkeratosis, Scarring |
OMIM:247100 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai... |
OMIM:601705 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Ataxia, Broad-based gait, Hypotriglyceridemia, Hypocholesterolemia, Abnormal cir... |
ORPHA:14 |
| Ane Syndrome |
|
Alopecia, Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormo... |
ORPHA:157954 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Alopecia, Toenail dysplasia, Abnormal fingernail morphology, Fingernail dysplasia, Abnormal denta... |
ORPHA:2325 |
| Carpenter Syndrome |
|
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Umbilical hernia, Preaxial foot poly... |
ORPHA:65759 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Abnormal foot morphology, Alopecia totalis, Brit... |
OMIM:129500 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Bilateral cryptorchidism, Intrauterine growth retardation, Micrognathia, Congenital d... |
ORPHA:2409 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypoglycemia |
OMIM:232700 |
| Harrod Syndrome |
|
Hypospadias, Abnormal pelvic girdle bone morphology, Multicystic kidney dysplasia, Failure to thr... |
ORPHA:2115 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight, Renal insufficiency, Respiratory failure |
ORPHA:890 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ataxia, Bone marrow hypocellularity, Alopecia, Aplastic anemia, Increased mean corpuscular volume... |
OMIM:127550 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia, Alopecia, Atrichia, Short finger, Decreased testicular size, Nail dystrophy, Cryptorch... |
ORPHA:1867 |
| Hurler Syndrome |
|
Hypoplasia of the odontoid process, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Hern... |
OMIM:607014 |
| Analbuminemia |
|
Osteoporosis, Recurrent lower respiratory tract infections, Lipodystrophy, Patent ductus arteriosus |
OMIM:616000 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hypoglycemia |
OMIM:615158 |
| Melnick-Needles Syndrome |
|
Hypoplastic scapulae, Micrognathia, Genu valgum, Anterior concavity of thoracic vertebrae, Talipe... |
OMIM:309350 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Porokeratosis, Alopecia totalis, Patellar aplasia, Aplasia/hypoplasia involving ... |
ORPHA:221016 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Kyphosis, Structural foot deformity, Difficulty walking, Puberty and gonadal disorders, Obesity, ... |
ORPHA:464282 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Type I diabetes mellitus, Rickets, Failure to thrive, Thrombocytosis, Macrocytic anemia... |
OMIM:212750 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o... |
OMIM:252500 |
| Acrorenal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... |
OMIM:200980 |
| Cartilage-Hair Hypoplasia |
|
Hypoplasia of the odontoid process, Lymphopenia, Sparse eyelashes, Narrow vertebral interpedicula... |
OMIM:250250 |
| 19P13.12 Microdeletion Syndrome |
|
Toe clinodactyly, Hypospadias, Precocious puberty, Arthrogryposis multiplex congenita, Finger syn... |
ORPHA:254346 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Fibular aplasia, Micrognathia, Aplasia/Hypoplasia of the patella,... |
ORPHA:3320 |
| Alstrom Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Pes planus, Tubulointerstit... |
OMIM:203800 |
| Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Gait disturbance, Osteoporosis, Vertebral compression fracture, Recurrent fractures |
ORPHA:85193 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep... |
ORPHA:95455 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Recurrent respiratory infections, Premature graying of hair, Genera... |
ORPHA:33445 |
| X Small Rings |
|
Toe syndactyly, Upper limb undergrowth, Lower limb undergrowth, Joint hypermobility, Low posterio... |
ORPHA:96201 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Pneumonia, Cryptorchidism, Joint hypermobility, Increased connective tissue, Rectus femoris muscl... |
ORPHA:98905 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Small nail, Pterygium of nails, Pancytopenia, Nail ... |
OMIM:224230 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal vertebral morphology, Abnormal epiphysis morphology, Craniofacial osteosclerosis, Osteom... |
ORPHA:324964 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Abnormal B cell morphology |
OMIM:616911 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Organic aciduria, Hypoglycemia, Respiratory insufficiency |
ORPHA:6 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Difficulty walking, Gait ataxia, Dysmetria, Osteoporosis |
ORPHA:529665 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... |
OMIM:258860 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Wide anterior fontanel, Flared metaphysis, Cortical irregularity, Micrognathia, Anter... |
OMIM:249420 |
| Clark-Baraitser syndrome |
|
Genu recurvatum, Obesity, Genu valgum, Joint hypermobility, Macroorchidism, Scoliosis, Kyphosis, ... |
OMIM:300602 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Palmoplantar keratoderma, Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hyperg... |
ORPHA:79395 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Failure to thrive in infancy, Broad ribs, Osteomyelitis, Splenomegaly, F... |
OMIM:612852 |
| Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Alopecia, Absent toe, Finger syndactyly, Failure to thrive, Hypop... |
ORPHA:974 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Pulmonary hypoplasia, Short tibia, Glandular hypospadias, Talipes equinovarus, Pneumothorax, Shor... |
OMIM:620306 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Abnormal testis mo... |
ORPHA:202 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Extramedullary hematopoiesis, Flared metaphysis, Cranial hyperostosis, Hepatosplenomegaly, Microg... |
OMIM:259720 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Intrauterine growth retardation, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:619487 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Failure to thrive, Multiple lentigines, Micrognathia, Splenomegaly, Ichthyosis, Absen... |
OMIM:115150 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Fine ha... |
OMIM:222700 |
| Weaver Syndrome |
|
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... |
OMIM:277590 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Ground-glass opacification, ... |
ORPHA:60025 |
| Cardiofaciocutaneous Syndrome |
|
Genu valgum, Cryptorchidism, Low posterior hairline, Short neck, Brittle hair, Sparse hair, Hyper... |
ORPHA:1340 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Enamel hypoplasia, Follicular hyperkeratosis, Sparse hair, Congenital b... |
OMIM:613576 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ... |
ORPHA:1329 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
| Idiopathic Hypercalciuria |
|
Osteopenia, Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis, Osteoporosis |
ORPHA:2197 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Increased circulating cortisol level, Decreased circulating ACTH concentration, Macro... |
OMIM:219080 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Pes cavus, Urinary urgency, Down-sloping shoulders, Distal lower limb muscle weakness, Intercosta... |
OMIM:606071 |
| Noonan Syndrome 8 |
|
Failure to thrive, Large for gestational age, Pleural effusion, Cryptorchidism, Palmoplantar cuti... |
OMIM:615355 |
| Sialidosis Type 1 |
|
Aminoaciduria, Abnormal form of the vertebral bodies, Urinary excretion of sialylated oligosaccha... |
ORPHA:812 |
| Ulbright-Hodes Syndrome |
|
Thin ribs, Fibular aplasia, Micrognathia, Humeroradial synostosis, Cryptorchidism, Talipes equino... |
ORPHA:3404 |
| Ear-Patella-Short Stature Syndrome |
|
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Failure to thrive, Camptodac... |
ORPHA:2554 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Intrauterine growth retardation, Overlapping toe, Large placenta, Inguinal hern... |
ORPHA:254528 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, Respiratory insufficiency, 11 ... |
ORPHA:140 |
| Schopf-Schulz-Passarge Syndrome |
|
Palmoplantar keratoderma, Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nai... |
OMIM:224750 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... |
OMIM:300554 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... |
OMIM:610913 |
| Mucolipidosis Type Ii |
|
Thickened skin, Dry hair, Limitation of joint mobility, White hair, Hepatosplenomegaly, Hip contr... |
ORPHA:576 |
| Stickler Syndrome |
|
Slender build, Micrognathia, Genu valgum, Arachnodactyly, Cachexia, Hip dislocation, Protrusio ac... |
ORPHA:828 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... |
OMIM:313400 |
| Harlequin Ichthyosis |
|
Limitation of joint mobility, Congenital ichthyosiform erythroderma, Respiratory insufficiency, I... |
ORPHA:457 |
| Porphyria, Congenital Erythropoietic |
|
Thickened skin, Joint contracture of the hand, Red urine, Absent eyebrow, Osteopenia, Alopecia, A... |
OMIM:263700 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Palmoplantar keratoderma, Small nail, Short toe, Short finger, Abnormal hair morphology... |
OMIM:242100 |
| Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... |
OMIM:268305 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Difficulty walking, Secondary ... |
ORPHA:289157 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Melanocytic nevus, Abnormality of the thyroid gland, Abnormality of retinal pi... |
ORPHA:1969 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broa... |
ORPHA:1507 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ataxia |
OMIM:618637 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Type I diabetes mellitus, Difficulty walking, Delayed menarche, Hypogonadism, Limb atax... |
ORPHA:412057 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Recurrent upper respiratory tract infections, Failure to thrive, Type II pneumocyte hypertrophy, ... |
OMIM:263000 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Abnormal T cell count, Abnormal B cell count |
OMIM:613493 |
| Pneumocystosis |
|
Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Interstiti... |
ORPHA:723 |
| Jaberi-Elahi Syndrome |
|
Hand clenching, Sparse eyebrow, Broad-based gait, Failure to thrive, Fine hair, Inability to walk... |
OMIM:617988 |
| Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, Failure to thrive, Perianal abscess, B lymphocytopenia, T lymp... |
OMIM:618108 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy, Tip-toe gait, Equinovarus deformity, Respiratory insufficiency, Failure t... |
ORPHA:746 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Fasting hyperinsulinemia, Decreased fibular diameter, Arachnodactyly, Long toe, Long ... |
OMIM:619489 |
| X-Linked Intellectual Disability, Snyder Type |
|
Sparse eyebrow, Abnormality of the Leydig cells, Testicular atrophy, Inability to walk, Recurrent... |
ORPHA:3063 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Small for gestational age, Choreoathetosis, Episodic ataxia |
OMIM:312170 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Neutropenia, Partial albinism |
ORPHA:90023 |
| Simpson-Golabi-Behmel Syndrome |
|
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Small nail, Finger syndactyly, Supernu... |
ORPHA:373 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia, Congenital diaphragma... |
OMIM:265000 |
| Solitary Fibrous Tumor |
|
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Hypophosphatemic rickets, Low back pain,... |
ORPHA:2126 |
| Acquired Hypertrichosis Lanuginosa |
|
Thickened skin, Fine hair, Abnormal eyebrow morphology, Ichthyosis, Generalized hirsutism, Weight... |
ORPHA:2221 |
| Leigh Syndrome |
|
3-Methylglutaconic aciduria, Neutropenia, Ataxia, Nephrotic syndrome, Choreoathetosis, Generalize... |
ORPHA:506 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation... |
ORPHA:91348 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of he... |
ORPHA:231222 |
| Osteogenesis Imperfecta, Type Viii |
|
Thin ribs, Radial bowing, Decreased skull ossification, Multiple prenatal fractures, Short metaca... |
OMIM:610915 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Low anterior hairline, Hypoplasia... |
OMIM:617666 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Sparse pubic hair, Decreased serum estradiol, Streak ovary, Abnormality of secondary ... |
ORPHA:243 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Narrow vertebral interpedicular distance, Short neck, Genu varum... |
OMIM:602557 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... |
ORPHA:2378 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Dpagt1-Cdg |
|
Thickened skin, Clinodactyly, Failure to thrive, Hypertrichosis, Inability to walk, Akinesia, Ara... |
ORPHA:86309 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, 2-5 toe syndactyly, Hip dislocat... |
OMIM:206920 |
| Myopathy, Centronuclear, 2 |
|
Intrauterine growth retardation, Pes cavus, Talipes equinovarus, Hyperlordosis, Respiratory insuf... |
OMIM:255200 |
| Microcephalic osteodysplastic primordial dwarfism, type III |
|
Ulnar deviation of finger, Slender long bone, Bladder exstrophy, Hypoplasia of the capital femora... |
OMIM:210730 |
| 4Q21 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Micromelia, Intrauterine growth retardation, Long eyelashes, Generali... |
ORPHA:238750 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss, Lymphadenopathy, Testicular neoplasm, Anemia, Ovarian neoplasm, Mediastina... |
ORPHA:83469 |
| Meier-Gorlin Syndrome 1 |
|
Thin ribs, Small hand, Joint contracture of the hand, Cutaneous finger syndactyly, Micrognathia, ... |
OMIM:224690 |
| Rabson-Mendenhall Syndrome |
|
Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss... |
ORPHA:769 |
| Olmsted Syndrome 1 |
|
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... |
OMIM:614594 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Failure to thrive, Death in early adulthood, ... |
OMIM:605676 |
| Werner Syndrome |
|
Hypogonadism, Alopecia of scalp, Scleroderma, Low back pain, Osteoporosis, Elevated hemoglobin A1... |
OMIM:277700 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, F... |
OMIM:300009 |
| Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
| Marfan Syndrome |
|
Osteopenia, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Slender build, Micr... |
ORPHA:558 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Umbilical hernia, Joint hypermobility, Arachnodactyly, Gait disturbance, Adducted thumb, Shoulder... |
ORPHA:2181 |
| Acro-Renal-Mandibular Syndrome |
|
Thin ribs, Hypoplastic scapulae, Hip dislocation, Finger syndactyly, Rudimentary fibula, Abnormal... |
ORPHA:958 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fifth metatarsal, Alopecia, Sparse lateral eyebrow, Small nail, Trichorrhexis nodosa, Joint... |
OMIM:261990 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo... |
ORPHA:508533 |
| Hurler-Scheie Syndrome |
|
Thickened skin, Camptodactyly of finger, Umbilical hernia, Heparan sulfate excretion in urine, Co... |
OMIM:607015 |
| Kinsship Syndrome |
|
Micrognathia, Short neck, Pes planus, Dislocated radial head, Hip dislocation, Osteopenia, Fibula... |
OMIM:619297 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Lathosterolosis |
|
2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, Anisopoikilocytosis, 2-4 toe cutaneous ... |
OMIM:607330 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Recurrent pneumonia, Osteomyelitis, Micrognathia, Recurrent sinusitis, Joint hypermobil... |
OMIM:618282 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Holt-Oram Syndrome |
|
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Joint stiffness, ... |
ORPHA:392 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... |
OMIM:615954 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst, Epiphyseal stippling, Respiratory failure, Death in infancy |
OMIM:614862 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Type I diabetes mellitus, Failure to thrive, Decreased FOXP3-expressing T cell count, A... |
OMIM:304790 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Cervical myelopathy, Hip dislocation, Hypoplasia of the odontoid process, Atlantoa... |
OMIM:183900 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypogonadotropic hypogonadism, Cachexia, Weight loss, Anemia, Hypergonadotropic hypogonadism |
ORPHA:298 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Corneal scarring, Pes cavus, Renal insufficiency, Absence of subcutaneous fat,... |
OMIM:610965 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
| Reni Syndrome |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hypoglycemia, Hypogonad... |
OMIM:617575 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:2744 |
| Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Hypoplastic acetabulae, Pes cavus, Splenomegaly, Flared iliac wing, Ataxia, Anteri... |
OMIM:230650 |
| Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ... |
OMIM:610475 |
| Trichothiodystrophy 1, Photosensitive |
|
Small nail, Fine hair, Trichorrhexis nodosa, Hypogonadism, Tiger tail banding, Absence of subcuta... |
OMIM:601675 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Failure to thrive, Death in childhood, Loss of ambulation, Gait disturbance, Ataxia, Anemia, Resp... |
OMIM:615838 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Tip-toe gait, Elbow flexion contracture, Obesity, Joint stiffness, Ichthyosis, Decrease... |
ORPHA:98863 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Weight loss, Lymphadenop... |
ORPHA:3226 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Ankle flexion contracture, Gait imbalance, 3-Methylglutaconic aciduria |
OMIM:618120 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Death in infancy, Hydronephrosis, Respiratory failure, Wide anterior fontanel |
OMIM:618240 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse eyebrow, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Pes cavus, Ichthyosis,... |
OMIM:602540 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Rounded middle phalanx of finger, Histidinuria, Hypoglycemia, Hypoplastic toenails, Impaired hist... |
ORPHA:2158 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia |
OMIM:617397 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Hyperpigmentatio... |
OMIM:104100 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph... |
OMIM:208500 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Pigmentary retinopathy, Absence of secondary sex characteris... |
ORPHA:2235 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Neonatal respiratory distress, Atelectasis |
OMIM:267450 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Typical Nemaline Myopathy |
|
Hip dislocation, Arthrogryposis multiplex congenita, Respiratory insufficiency, Flexion contractu... |
ORPHA:171436 |
| Kabuki Syndrome 2 |
|
Short 5th finger, Highly arched eyebrow, Sparse lateral eyebrow, Prominent fingertip pads, Horses... |
OMIM:300867 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Highly arched eyebrow, Unilateral renal agenesis, Sandal gap, Leukemia, Supernumerary nipple, Cam... |
OMIM:619951 |
| Wieacker-Wolff Syndrome |
|
High anterior hairline, Hip dislocation, Arthrogryposis multiplex congenita, Neonatal respiratory... |
OMIM:314580 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Hypertrichosis, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Synophrys |
ORPHA:85317 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Abnormality of the ureter, Abnormal hip bone morphology, Microg... |
ORPHA:2522 |
| Costello Syndrome |
|
Micrognathia, Limited elbow movement, Talipes equinovarus, Short neck, Thin nail, Curly hair, Spa... |
OMIM:218040 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Failure to thrive, Micrognathia, Osteoporosis, Flexion contracture, Scoliosis |
OMIM:615851 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Centrilobular ground-glass opacification on pulmonary HRCT, Failure to thri... |
ORPHA:79128 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Talipes eq... |
OMIM:143095 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Respiratory failure, Split hand |
ORPHA:168486 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Cryptorchidism, Arachnodactyly, Pes planus, Hypospadias, Hyperkeratosis, Precociou... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Slender build, Cryptorchidism, Arachnodactyly, Pes planus, Hypospadias, Hyperkeratosis, Precociou... |
ORPHA:363958 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Small for gestational age, Rickets, Failure to thrive, Hypoglycemia, Respiratory insu... |
OMIM:613658 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... |
OMIM:263200 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Acute leukemia, Abnormal hair morphology, Hemolytic anemia, Autoimmune hemol... |
ORPHA:647 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia universalis, Sandal gap, Widely spaced toes, Alopecia totalis, Neonatal death, Mitten de... |
OMIM:609638 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short distal phalanx of finger, Recurrent upper respiratory tract infections, Shuffling gait, Cho... |
OMIM:300534 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, Ground-gla... |
OMIM:620233 |
| Tenosynovial Giant Cell Tumor |
|
Chondrocalcinosis, Abnormality of the ankle, Limitation of joint mobility, Abnormal shoulder morp... |
ORPHA:66627 |
| Neonatal Hemochromatosis |
|
Micrognathia, Hypoglycemia |
ORPHA:446 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
| Bachmann-Bupp Syndrome |
|
Small nail, Hypoglycemia, Large for gestational age, Cryptorchidism, Sparse eyelashes, Absent eye... |
OMIM:619075 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Failure to thrive, Lymphadenopathy, Thrombocytopenia, B l... |
OMIM:618048 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Scedosporiosis |
|
Pneumonia, Bronchitis, Osteomyelitis, Apical pulmonary opacity, Arthralgia/arthritis, Septic arth... |
ORPHA:449280 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Melanocytic nevus, Dystrophic fingernail... |
ORPHA:1882 |
| Cohen Syndrome |
|
Finger syndactyly, Micrognathia, Genu valgum, Cryptorchidism, Arachnodactyly, Neutropenia, Failur... |
ORPHA:193 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Wide anterior fontanel, Pulmonary cyst, Umbilical hernia, Large for gestational age, Micrognathia... |
OMIM:618272 |
| Bloom Syndrome |
|
Micrognathia, Sparse eyelashes, Abnormal proportion of CD8-positive T cells, Acute myeloid leukem... |
ORPHA:125 |
| Glass Syndrome |
|
Broad-based gait, Long eyelashes, Micrognathia, Inguinal hernia, Arachnodactyly, Nail dysplasia, ... |
OMIM:612313 |
| Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... |
ORPHA:668 |
| Fountain Syndrome |
|
Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ... |
ORPHA:3219 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Genu recurvatum, Hand clenching, Elbow flexion contracture, Long eyelashes, Overlapping toe, Hip ... |
OMIM:617301 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Bone marrow hypocellularity, Nephrocalcinosis, Infection associated neutropenia, Renal insufficie... |
ORPHA:445038 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyebrow, Rib exostoses, Small hand, Tracheomalacia, Sparse body hair, Respirator... |
ORPHA:2108 |
| Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Tip-toe gait, Elbow flexion contracture, Obesity, Joint stiffness, Ichthyosis, Decrease... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Tip-toe gait, Elbow flexion contracture, Obesity, Joint stiffness, Ichthyosis, Decrease... |
ORPHA:98853 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Congenital pulmonary airway malformation, Lymphopenia, Intrauterine growth retardation, Leukocyto... |
OMIM:243150 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
| Holoprosencephaly |
|
Abnormality of the spleen, Congenital diaphragmatic hernia, Cryptorchidism, Encephalocele, Talipe... |
ORPHA:2162 |
| Basilicata-Akhtar Syndrome |
|
Precocious puberty, Broad foot, Short neck, Adducted thumb, Camptodactyly, Short foot, Neonatal h... |
OMIM:301032 |
| Nephronophthisis 3 |
|
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... |
OMIM:604387 |
| Idiopathic Achalasia |
|
Recurrent aspiration pneumonia, Weight loss, Bronchitis |
ORPHA:930 |
| Sotos Syndrome |
|
Sparse eyebrow, High anterior hairline, Long metacarpals, Small nail, Long foot, Genu valgum, Glu... |
OMIM:117550 |
| Trisomy 13 |
|
Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormal lung lobation, Abnormality of the ... |
ORPHA:3378 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor... |
OMIM:610489 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Pleural effusion, Parenchymal consolidation, Leukocytosis, Pulmonary infil... |
ORPHA:36238 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Tip-toe gait, Elbow flexion contracture, Obesity, Joint stiffness, Ichthyosis, Decrease... |
ORPHA:98855 |
| Becker Nevus Syndrome |
|
Lower limb asymmetry, Micromelia, Supernumerary nipple, Abnormal tibia morphology, Rib fusion, Su... |
ORPHA:64755 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:613869 |
| Acquired Ichthyosis |
|
Palmoplantar keratoderma, Ichthyosis, Renal insufficiency, Hyperkeratosis |
ORPHA:454 |
| Marden-Walker Syndrome |
|
Hypospadias, Renal hypoplasia, Joint contracture of the hand, Congenital contracture, Intrauterin... |
OMIM:248700 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Ankle flexion contracture, Congenital hip dislocation, Failure to thrive, Aspiration pneumonia, E... |
ORPHA:2020 |
| Koolen-De Vries Syndrome |
|
Hypospadias, Hip dislocation, Abnormal dental enamel morphology, Vesicoureteral reflux, Cryptorch... |
ORPHA:96169 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Abnormal fingertip morphology, Short distal phalanx of finger, Alopecia, Insulin resistance, Abno... |
ORPHA:90154 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Chylothorax, Abnormal form of the vertebral bodies, Micromelia, Mic... |
ORPHA:3015 |
| Congenital Disorder Of Glycosylation, Type If |
|
Failure to thrive, Renal cortical cysts, Death in infancy, Ataxia, Flexion contracture, Hyperkera... |
OMIM:609180 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Supernumerary nipple, Pes planus, Patellar dislocation, Sparse eyeb... |
ORPHA:261349 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Failure to thrive in infancy, Corneal scarring, Frontal upsweep of hair, Ret... |
OMIM:301220 |
| Combined Malonic And Methylmalonic Acidemia |
|
Hypoglycemia, Methylmalonic aciduria, Failure to thrive, Dicarboxylic aciduria |
ORPHA:289504 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular... |
ORPHA:85184 |
| Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Hypoglycemia, Intrauterine growth retardation, Gait ataxia, Scoliosis |
OMIM:616355 |
| Cole Disease |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Abnormal hair m... |
OMIM:615522 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Tip-toe gait, Intrauterine growth retardation, Cryptorchidism, Ankle clonus, Loss of ambulation, ... |
ORPHA:565624 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Failure to thrive, Respiratory insufficiency, Splenomegaly, Ma... |
OMIM:615512 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Hemifacial Atrophy, Progressive |
|
Patchy alopecia, Ataxia, Poliosis, Kyphosis, Short mandibular rami |
OMIM:141300 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Alopecia, Congenital hip dislocation, Finger syndactyly, Hypopigm... |
ORPHA:1647 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Osteoporos... |
ORPHA:98848 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Synostosis of carpal bones, Respiratory insufficiency, Obesity, Micrognathia, Type II diabetes me... |
ORPHA:3191 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Nail dystrophy, Patchy alopecia, Enamel hypoplasia, Plantar hyperkeratos... |
OMIM:226650 |
| Poikiloderma With Neutropenia |
|
Sparse eyebrow, Recurrent pneumonia, Palmoplantar keratoderma, Sparse lateral eyebrow, Leukopenia... |
OMIM:604173 |
| Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Cardiorespiratory arrest, Hypoglycemia, Inability t... |
ORPHA:26791 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... |
OMIM:619644 |
| Lethal Congenital Contracture Syndrome 2 |
|
Akinesia, Micrognathia, Hydronephrosis, Arthrogryposis multiplex congenita, Respiratory failure |
OMIM:607598 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hypermobility, Gait disturbance, Kyphosis, Hypertrichosis |
OMIM:614898 |
| Omodysplasia 2 |
|
Hypospadias, Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shor... |
OMIM:164745 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
| Crisponi Syndrome |
|
Limitation of joint mobility, Camptodactyly of finger, Respiratory insufficiency, Micrognathia, D... |
ORPHA:1545 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Failure to thrive, Atelectasis, Respiratory insufficiency, Hepatosplenomegaly, Leukocytosis, Reti... |
OMIM:618278 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the lon... |
ORPHA:89936 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Clinodactyly, Camptodactyly of finger, Decreased testicular size, Cryptorchidism, Talipes equinov... |
ORPHA:85279 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen |
OMIM:185070 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ... |
OMIM:259770 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Nephrocalcinosis, Chondrocalcinosis, Elevated circulating parathyroid hormone level, ... |
ORPHA:99879 |
| Olmsted Syndrome 2 |
|
Alopecia universalis, Palmoplantar keratoderma, Perioral hyperkeratosis, Flexion contracture of d... |
OMIM:619208 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism, Tapered finger |
OMIM:618512 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Cryptorchidis... |
OMIM:602535 |
| Galactokinase Deficiency |
|
Neonatal asphyxia, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia, Increas... |
ORPHA:79237 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Carpal synostosis, Fibular aplasia, Micrognathia, Encephalocele, Bowi... |
ORPHA:90652 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short 5th finger, Slender finger, Small hand, Inability to walk, Obesity, Thick eyebrow, Microgna... |
OMIM:618443 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Small nail, Alopecia totalis, Hypoplastic iliac wing, Micrognathia, Absent ... |
OMIM:263650 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, F... |
OMIM:605711 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Pigmentary retinopathy, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tu... |
OMIM:220110 |
| Dyskeratosis Congenita, X-Linked |
|
Premature graying of hair, Pancytopenia, Cryptorchidism, Sparse eyelashes, Acute myeloid leukemia... |
OMIM:305000 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Unilateral renal agenesis, Renal hypoplasia, Failure to thrive, Intra... |
OMIM:609029 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Brain-Lung-Thyroid Syndrome |
|
Recurrent pneumonia, Neonatal respiratory distress, Falls, Failure to thrive, Megacystis, Elevate... |
ORPHA:209905 |
| Pachyonychia Congenita |
|
Onychogryposis of fingernail, Alopecia, Palmoplantar keratoderma, Failure to thrive, Palmoplantar... |
ORPHA:2309 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Atrophic scars, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Broad ribs, Long hallux, Broad... |
OMIM:600002 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Finger syndactyly, Micrognathia, Ataxia, Brittle hair, Foot polydac... |
ORPHA:2750 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Alopecia, Palmoplantar keratoderma, Abnormal fingernail morphology, Palmoplantar ... |
ORPHA:659 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Hypospadias, Toe syndactyly, Microretrognathia, Lipoma, Short finger, Inability to walk, Decrease... |
ORPHA:459070 |
| Pelger-Huet Anomaly |
|
Short 3rd metacarpal, Giant platelets, Failure to thrive, Upper limb undergrowth, Umbilical herni... |
OMIM:169400 |
| Monosomy 18P |
|
Alopecia, Micrognathia, Kyphoscoliosis, Low posterior hairline, Short neck, Hypothyroidism, Brach... |
ORPHA:1598 |
| Digeorge Syndrome |
|
Micrognathia, Intervertebral disk degeneration, Ovarian cyst, Patellar dislocation, Patent ductus... |
OMIM:188400 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... |
OMIM:619705 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Aminoaciduria, Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Death in childho... |
OMIM:619055 |
| Lymphangioleiomyomatosis |
|
Chylothorax, Atelectasis, Abnormal urinary color, Ungual fibroma, Emphysema, Pulmonary lymphangio... |
ORPHA:538 |
| Gaucher Disease, Perinatal Lethal |
|
Intrauterine growth retardation, Micrognathia, Akinesia, Hepatosplenomegaly, Splenomegaly, Neonat... |
OMIM:608013 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hyperi... |
ORPHA:276580 |
| Zygomycosis |
|
Cellulitis, Nephritis, Atelectasis, Fasciitis, Osteolysis, Pleural effusion, Parenchymal consolid... |
ORPHA:73263 |
| Mixed Connective Tissue Disease |
|
Nephropathy, Alopecia, Mediastinal lymphadenopathy, Hemolytic anemia, Leukopenia, Joint stiffness... |
ORPHA:809 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Hypoglycemia, ... |
OMIM:617872 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Small hand, Broad thumb, Broad-based gait, Micrognathia, Cryptorchidism, Talipes equinovarus, Sho... |
ORPHA:251028 |
| Deeah Syndrome |
|
Overlapping fingers, Cryptorchidism, Death in childhood, Decreased body weight, Low posterior hai... |
OMIM:619004 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Sparse lateral eyebrow, Miscarriage |
ORPHA:3406 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... |
ORPHA:276608 |
| Tracheobronchopathia Osteochondroplastica |
|
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res... |
ORPHA:3348 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Death in childhood, Hypoglycemia, Ataxia |
OMIM:246900 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hypoglycemia, Renal tubular acidosis, Splenomegaly, Polycystic ovaries, Increa... |
ORPHA:264580 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Intrauterine growth retardation, Lipoid pneumonia, Inguinal hernia, Respiratory failure, Spinal r... |
OMIM:620326 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Failure to thrive, Micrognathia,... |
OMIM:301108 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Failure to thrive, Hypoglycemia, Hyperglycemia, Overlapping fingers, Joint... |
OMIM:609069 |
| X-Linked Creatine Transporter Deficiency |
|
Joint hypermobility, Cachexia, Athetosis, Ataxia |
ORPHA:52503 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Decreased circulating parathyroid hormone level, Rachitic rosary, Osteomalacia, Pathologic fractu... |
ORPHA:157215 |
| Amish Lethal Microcephaly |
|
Limitation of joint mobility, Organic aciduria, Micrognathia, Death in infancy, Decreased skull o... |
ORPHA:99742 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Recurrent hypoglycemia, Splenomegaly, Renal tubular acidosis, Polycystic ovaries, Increased body ... |
ORPHA:79240 |
| Monosomy 22 |
|
Thickened skin, Finger syndactyly, Contractures of the large joints, Hepatosplenomegaly, Sclerode... |
ORPHA:96123 |
| Geleophysic Dysplasia 3 |
|
Pneumonia, Epiphyseal dysplasia, Thickened skin, Limited elbow movement, Respiratory failure, Lim... |
OMIM:617809 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin, Intrauterine growth retardation, Reduced renal corticomedullary dif... |
OMIM:618541 |
| Intellectual Disability, Buenos-Aires Type |
|
Cuboid-shaped thoracolumbar vertebral bodies, Abnormal pelvic girdle bone morphology, Fine hair, ... |
ORPHA:3079 |
| Williams Syndrome |
|
Synostosis of joints, Micrognathia, Genu valgum, Cryptorchidism, Death in early adulthood, Polycy... |
ORPHA:904 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Unsteady gait, Gait ataxia, Recurrent hypoglycemia |
OMIM:618158 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Ichthyosis, Tibial bowing, Cortical thickening of long bone diaphyses, Increased ... |
OMIM:166740 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Umbilical hernia, Respiratory insufficiency, Abnormal hip bone morpholog... |
ORPHA:1488 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Short distal phalanx of finger, Alopecia, Limitation of joint mobility, Breas... |
ORPHA:90153 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair,... |
OMIM:158000 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Dilated cardiomyopathy, Bradycardia |
OMIM:610768 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Fine hair, Hematuria, Pulmonary fibrosis, Recurrent respiratory infections, Sparse hair... |
ORPHA:1839 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... |
OMIM:614817 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Pes cavus, Gait disturbance, Ataxia, Scoliosis, Kyphosis |
ORPHA:101075 |
| Distal Triplication 15Q |
|
Horseshoe kidney, Intrauterine growth retardation, Micrognathia, Large for gestational age, Arach... |
ORPHA:314588 |
| Arterial Tortuosity Syndrome |
|
Rocker bottom foot, Cardiorespiratory arrest, Avascular necrosis of the capital femoral epiphysis... |
ORPHA:3342 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Platyspondyly, Erlenmeyer flask deformity of the femurs, Craniofacial o... |
OMIM:618476 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Alopecia, Sparse eyebrow, Tapered toe, Small nail, Bilateral cryptorchidism, Sacral dimple, Large... |
ORPHA:544488 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Premature adrenarche, Increased circulating androgen concentration, Long foot, Abnormal odontoid ... |
ORPHA:2976 |
| Felty Syndrome |
|
Cellulitis, Bone marrow hypocellularity, Recurrent pneumonia, Irregular hyperpigmentation, Limita... |
ORPHA:47612 |
| Koolen-De Vries Syndrome |
|
Cryptorchidism, Hip dislocation, Patent ductus arteriosus, Slender finger, Prominent fingertip pa... |
OMIM:610443 |
| Wolman Disease |
|
Adrenal calcification, Adrenal insufficiency, Splenomegaly, Cachexia, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
| Mucolipidosis Iii Alpha/Beta |
|
Thickened skin, Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular ca... |
OMIM:252600 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Respiratory insufficiency, Splenomegaly, Weight loss, Lymphadenopath... |
ORPHA:391 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism |
OMIM:604931 |
| Primrose Syndrome |
|
Sparse body hair, Genu valgum, Cryptorchidism, Hip contracture, Ataxia, Absent axillary hair, Irr... |
OMIM:259050 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypoglycemia, Increased circulating prolactin concentration, Failure to thrive, Joint contracture |
ORPHA:35708 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia |
OMIM:612260 |
| Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Alopecia, Orbital encephalocele, Cryptorchidism |
OMIM:164180 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteoporosis, Osteopenia, Absence of pubertal development, Hypogonadism |
OMIM:615267 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Fibular hypoplasia, Ta... |
OMIM:227270 |
| Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
| Necrotizing Enterocolitis |
|
Shock, Hypotension, Abnormal heart morphology, Bradycardia |
ORPHA:391673 |
| Restrictive Dermopathy 1 |
|
Micrognathia, Sparse eyelashes, Absent eyelashes, Neonatal death, Hypospadias, Patent ductus arte... |
OMIM:275210 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ... |
ORPHA:93357 |
| Pyridoxine-Dependent Epilepsy |
|
Neonatal asphyxia, Neonatal respiratory distress, Hypoglycemia |
ORPHA:3006 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Central hypothyroidism, Hypoglycemia, Decreased serum testosterone concentration, Decre... |
ORPHA:453533 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death... |
OMIM:614922 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Seckel Syndrome 1 |
|
Ivory epiphyses, Hypospadias, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contractur... |
OMIM:210600 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip dislocation, Microretrognathia, Radial deviation of the hand, Inability to walk, Hip contract... |
OMIM:301041 |
| Chime Syndrome |
|
Sparse hair, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle... |
ORPHA:3474 |
| Riddle Syndrome |
|
Pneumonia, Enuresis nocturna, Recurrent pneumonia, Neonatal asphyxia, Bronchitis, Recurrent sinus... |
ORPHA:420741 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Micropenis, T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia |
OMIM:615966 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Failure to thrive, Respiratory insufficiency, Pancytopenia, Leukopenia, P... |
OMIM:613845 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia |
ORPHA:31150 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Adrenal calcification, Cryp... |
ORPHA:289548 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, Hypoglycemia, Failure to thrive, 3-Methylglutaconic aciduria |
OMIM:614739 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Rheumatoid arthritis, Lymphopenia, Increased intervertebral space, Tubulointerstitial fibrosis, M... |
OMIM:607944 |
| Muenke Syndrome |
|
Coronal craniosynostosis, Cone-shaped epiphysis, Hypopigmented skin patches, Hypermelanotic macul... |
ORPHA:53271 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Osteolytic defects of the phalanges of the hand, Patent... |
OMIM:259100 |
| Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Osteoporosis, Diabetes mellitus |
OMIM:601811 |
| Bazex Syndrome |
|
Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Nail dystrophy, Lung adenocarcinom... |
ORPHA:166113 |
| Arthrogryposis, Distal, Type 5 |
|
Clinodactyly, Abnormality of retinal pigmentation, Arachnodactyly, Limited wrist extension, Dista... |
OMIM:108145 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Thickened skin, Type I diabetes mellitus, Congenital pulmonary airway malformation, Intrauterine ... |
ORPHA:436252 |
| Bartsocas-Papas Syndrome |
|
Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Alopecia totalis, Sparse o... |
ORPHA:1234 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Elevated circulating luteinizing hormone level, Cryptorchidism, Renal salt ... |
ORPHA:168558 |
| Mucolipidosis Iii Gamma |
|
Joint stiffness, Genu valgum, Claw hand deformity, Flared iliac wing, Short neck, Pes planus, Fla... |
OMIM:252605 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Joint stiffness, Genu valgum, Recurrent fractures, Abnormality of retinal pigmentation, Arachnoda... |
ORPHA:394 |
| 2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Abnormal hair morphology, Abnormal tibia morphology, Micrognat... |
ORPHA:251014 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Hypoglycemia, Supernumerary nipple, Contracture of the proximal inter... |
ORPHA:457279 |
| Infantile Krabbe Disease |
|
Failure to thrive, Hypopigmented skin patches, Ankle clonus, Cachexia, Respiratory failure |
ORPHA:206436 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Short neck,... |
ORPHA:226307 |
| Autosomal Dominant Robinow Syndrome |
|
Onychogryposis of fingernail, Finger syndactyly, Micrognathia, Cryptorchidism, Short neck, Hyposp... |
ORPHA:3107 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Atelosteogenesis, Type Iii |
|
Rhizomelia, Cervical kyphosis, Tombstone-shaped proximal phalanges, Radial bowing, Sandal gap, Kn... |
OMIM:108721 |
| Marshall-Smith Syndrome |
|
Failure to thrive, Slender long bone, Reduced bone mineral density, Increased susceptibility to f... |
ORPHA:561 |
| 6Q Terminal Deletion Syndrome |
|
Highly arched eyebrow, Hypospadias, Clinodactyly, Failure to thrive, Talipes calcaneovalgus, Obes... |
ORPHA:75857 |
| Shox-Related Short Stature |
|
Obesity, Micrognathia, Genu valgum, Tibial bowing, Ulnar radial head dislocation, Lower limb unde... |
ORPHA:314795 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Joint hypermobility |
ORPHA:319199 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Micrognathia, Absence of subcutaneous fat, Generalized osteoporosis, Osteolysis |
OMIM:176670 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
| Johnson Neuroectodermal Syndrome |
|
Alopecia, Failure to thrive, Preaxial hand polydactyly, Hypogonadism, Absent eyelashes, Hand poly... |
ORPHA:2316 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pit... |
ORPHA:97289 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Cholelithiasis, Myelopathy, Abnormality of the vertebral spinous processes, Abnormali... |
ORPHA:909 |
| Cole-Carpenter Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Intrauterine growth ret... |
ORPHA:2050 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Failure to thrive, Intrauterine growth retardation, Death in infancy, Hydronephrosis, A... |
ORPHA:2315 |
| Srd5A3-Cdg |
|
Palmoplantar keratoderma, Spotty hyperpigmentation, Hypertrichosis, Microcytic anemia, Decreased ... |
ORPHA:324737 |
| Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Failure to thrive, Decreased response to growth hormone stimulation test, L... |
OMIM:606407 |
| Congenital Syphilis |
|
Pneumonia, Periostitis, Extramedullary hematopoiesis, Hypoglycemia, Intrauterine growth retardati... |
ORPHA:499009 |
| Lopes-Maciel-Rodan Syndrome |
|
Small hand, Ankle clonus, Unsteady gait, Short foot, Scoliosis, Kyphosis |
OMIM:617435 |
| Leprechaunism |
|
Thickened skin, Facial hypertrichosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Dec... |
ORPHA:508 |
| Addison Disease |
|
Adrenal calcification, Weight loss, Hypoparathyroidism, Renal salt wasting, Thymoma, Androgen ins... |
ORPHA:85138 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Ataxia, Hypocholesterolemia, Dysmetria, Thrombocytosis, Steatorrhea |
OMIM:212065 |
| Chromomycosis |
|
Hyperkeratotic papule, Atypical scarring of skin, Hypopigmented skin patches, Hyperparakeratosis,... |
ORPHA:182 |
| Familial Nasal Acilia |
|
Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron... |
ORPHA:922 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenomegaly, Microgna... |
OMIM:266920 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Joint hypermobility, Gait dist... |
ORPHA:1875 |
| Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia, Delayed puberty, Hypogonadism |
OMIM:615270 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypopigmented skin patches, Large for gestational age, Cryptorchidism, Pes planus, Gait disturban... |
ORPHA:457485 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphadenitis, Failure to thrive, Lymphopenia, Hepatosplenomegaly, Decreas... |
ORPHA:331206 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Hypospadias, Premature adrenarche, Precocious puberty, Lower limb asymmetry, ... |
ORPHA:96182 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Large for gestational age, Hypoke... |
ORPHA:276575 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Limitation of joint mobility, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Congenital foo... |
ORPHA:3454 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Failure to thrive, Long foot, Thin eyebrow, Micrognathia, Arachnodactyly, Absent eyebrow, Respira... |
ORPHA:2707 |
| Oculopharyngodistal Myopathy |
|
Difficulty walking, Distal lower limb muscle weakness, Loss of ambulation, Weight loss, Tibialis ... |
ORPHA:98897 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Horseshoe kidney, Multiple lentigines, Vitiligo, Kyphoscoliosis, Spastic gait, ... |
ORPHA:101003 |
| Alpha-Heavy Chain Disease |
|
Anemia, Alopecia, Splenomegaly, Lymphadenopathy |
ORPHA:100025 |
| Gm1-Gangliosidosis, Type I |
|
Hypertrichosis, Intrauterine growth retardation, Joint stiffness, Inguinal hernia, Splenomegaly, ... |
OMIM:230500 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Ataxia, Craniosynostosis, Wide a... |
OMIM:601853 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Ataxia, Failure to thrive, Goiter, Respiratory insufficiency, Absent Achilles reflex, Glucose int... |
ORPHA:254892 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hypoglycemia, Ataxia |
ORPHA:2394 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Medial flaring of the eyebrow, Sandal gap, Failure to thrive, Intrauterine growth re... |
OMIM:617602 |
| Cousin Syndrome |
|
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic... |
OMIM:260660 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Difficulty walking, Calf muscle hypertrophy, Respiratory failure, Achilles tendon contracture |
OMIM:603689 |
| Sézary Syndrome |
|
Alopecia, Irregular hyperpigmentation, Palmoplantar keratoderma, Abnormal lymphocyte morphology, ... |
ORPHA:3162 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Large for gestational age, Hypoketo... |
ORPHA:276556 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Thoracolumbar kyphosis, Broad-based gait, Cholelithiasis, Abnormality of the spleen, Azoospermia,... |
ORPHA:2072 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia, Dysmetria, Low back pain, Gait disturbance, Gait apraxia, Ataxia, Urinary incontinence |
OMIM:600142 |
| Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Follicular hyperkeratosis, Slow-growing ... |
ORPHA:573 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Ovarian neoplasm |
ORPHA:50944 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Failure to thrive, Intrauterine growth retardation, Hyperpigmentation of the skin, Brit... |
ORPHA:50812 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... |
OMIM:274000 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Alopecia universalis, Decreased proportion of CD4+CD25+ regulatory T cells, Type I di... |
OMIM:606367 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Hyperinsulinemia, Hypoketotic hy... |
ORPHA:263455 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Small nail, Micrognathia, Absent distal phalanges, Low anterior hairline, Short middle ... |
OMIM:614219 |
| Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Inguinal hernia, Neonatal death, Death in adolescence, Pleural thi... |
OMIM:620014 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Overlapping toe, Micrognathia, Low posterior hairline, Talipes equinovarus,... |
OMIM:213980 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension |
OMIM:614653 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria, Hypoglycemia |
OMIM:614741 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Trichiasis, Joint contracture of the hand, Atypical scarring of skin, Abnormal dental enamel morp... |
OMIM:601701 |
| Cushing Disease |
|
Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Adrenal hype... |
ORPHA:96253 |
| Ovarian Dysgenesis 8 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Eunuchoid habitus, Ele... |
OMIM:618187 |
| Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Adreno... |
ORPHA:100083 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Failure to thrive, Hypoglycemia, ... |
ORPHA:199299 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Limb joint contracture, Respirat... |
OMIM:620327 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... |
ORPHA:79127 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Patent ductus ... |
OMIM:208540 |
| Avian Influenza |
|
Pneumonia, Acute kidney injury, Ground-glass opacification, Lymphopenia, Leukopenia, Pleural effu... |
ORPHA:454836 |
| Microphthalmia, Syndromic 9 |
|
Renal hypoplasia, Multilobulated spleen, Horseshoe kidney, Cryptorchidism, Neonatal death, Hydron... |
OMIM:601186 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Bilateral cryptorchidism, Ichthyosis, Micropenis, Hypospadias |
OMIM:618840 |
| Chand Syndrome |
|
Short fifth metatarsal, Hydroureter, Atelectasis, Curly hair, Nail dysplasia, Ataxia |
ORPHA:1401 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Osteoporosis, Eosinophilia, Recurrent respiratory infections |
OMIM:620532 |
| Refractory Celiac Disease |
|
Normocytic anemia, Microcytic anemia, Abnormal spleen physiology, Macrocytic anemia, Increased pr... |
ORPHA:398063 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Arachnodactyly, Curly hair, Sparse eyebrow, Absent thumb, Failure to thrive i... |
ORPHA:500150 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Failure to thrive, Hypertrichosis, Microcytic anemia, Ichthyosis, Abnormality of skin pigmentatio... |
OMIM:612379 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Bone marrow hypocellularity, Alopecia, Failure to thrive, Intrauterine growth retardation, Nail d... |
OMIM:616353 |
| Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Micrognathia, 2-3 toe syndactyly, Clinodactyly of the 5th finger... |
OMIM:618905 |
| Congenital Disorder Of Deglycosylation 1 |
|
Small hand, Athetosis, Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine... |
OMIM:615273 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Nephrocalcinosis, Rickets, Glycosuria, Hypoglycemia, Large for gestational age, Hy... |
OMIM:616026 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Alopecia, Renal insufficiency, Reduced subcutaneous adipose tissue, Spars... |
OMIM:137940 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Peroneal muscle atrophy, Small hand, Broad-based gait, Clinodactyly, Respiratory insufficiency, T... |
OMIM:181405 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Abnormal hair morphology, Cryptorchidism, Absent eyebrow, Abnormal... |
ORPHA:2273 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... |
ORPHA:1809 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Recurrent bronchitis, Absent frontal sinuses, Asplenia, Bronchiectasis, A... |
OMIM:244400 |
| Singleton-Merten Syndrome 1 |
|
Shallow acetabular fossae, Hypoplastic distal radial epiphyses, Genu valgum, Decreased body weigh... |
OMIM:182250 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Highly arched eyebrow, Kyphosis |
OMIM:609384 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochrom... |
OMIM:616084 |
| Williams-Beuren Syndrome |
|
Small nail, Premature graying of hair, Radioulnar synostosis, Osteopenia, Failure to thrive in in... |
OMIM:194050 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Distichiasis, Delayed puberty, Anemia, Scoliosis, Kyphosis |
ORPHA:2598 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Pes cavus, Gait disturbance, Ataxia, Scoliosis, Kyphosis |
ORPHA:101078 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Atypical scarring of skin, Palmoplantar keratoderma, Alopecia totalis, Joint stiffness, Nail dyst... |
ORPHA:1366 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Osteopenia, Increased susceptibility to fractures, Hyperphosphaturia, Ne... |
OMIM:612287 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Osteopenia, Hyperphosphaturia, Increased susceptibility to fractures, Ne... |
OMIM:612286 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Stillbirth, Preaxial hand polydactyly, Abnormal lung lobation, Upper limb under... |
OMIM:236680 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Hirsutism, Ataxia, Unsteady gait, Scoliosis, Kyphosis, Synophrys |
OMIM:300861 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Abnormal epiphysis morphology, Premature epimetaphyseal fusion, Limitation of joint m... |
ORPHA:85435 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Aciduria, Failure to thrive, Hypoglycemia |
OMIM:617950 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Hypoplastic iliac wing, Brachydactyly, Hip dysplasia, Scoliosis, ... |
ORPHA:1858 |
| Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Sparse eyebrow, Congenital alopecia totalis, Generalized hyperkeratosis, Alopecia of scalp, Gener... |
ORPHA:2269 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Clubbing of toes, Weight loss, Palmoplantar keratoderma |
ORPHA:2198 |
| Chilblain Lupus |
|
Chronic myelomonocytic leukemia, Finger swelling, Hyperkeratosis |
ORPHA:90280 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Palmoplantar keratoderma, Failure to thrive, Ichthyosis, Abnormality of the nail |
ORPHA:79394 |
| Perrault Syndrome 4 |
|
Decreased serum estradiol, Obesity, Gait ataxia, Hypoplasia of the ovary, Increased circulating g... |
OMIM:615300 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept... |
ORPHA:98849 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Bicoronal synostosis, Cryptorchidism, Joint hypermobility, Hypogonadotropic hypogonad... |
OMIM:619718 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Recurrent upper respiratory tract infections, Failure to thrive, Decreased proportion o... |
ORPHA:169154 |
| Giant Cell Arteritis |
|
Ataxia, Alopecia, Abnormal pleura morphology, Joint stiffness, Renal insufficiency, Hematuria, We... |
ORPHA:397 |
| Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Elevated circulating luteinizing hormone level, Sparse body hair, Cryptorchidism, Polycystic ovar... |
ORPHA:90796 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Small hand, Failure to thrive, Hypogonadism, Cryptorchidism, Gait disturbance, Hip dysplasia, Mic... |
ORPHA:500055 |
| Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... |
ORPHA:1686 |
| Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Dysmetria, Gait disturbance, Respiratory failure, Dysdiadochokinesis, Progressive... |
ORPHA:98755 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy, Intrauterine growth retardation, Vesicoureteral reflux, Knee flexion cont... |
ORPHA:3208 |
| Lujo Hemorrhagic Fever |
|
Oliguria, Atelectasis, Stiff neck, Lymphopenia, Leukopenia, Renal insufficiency, Leukocytosis, Th... |
ORPHA:319213 |
| Atypical Rett Syndrome |
|
Small hand, Inability to walk, Gait ataxia, Loss of ambulation, Gait disturbance, Short foot, Sco... |
ORPHA:3095 |
| Erdheim-Chester Disease |
|
Abnormal epiphysis morphology, Diabetes insipidus, Osteolysis, Dysuria, Osteomyelitis, Pleural ef... |
ORPHA:35687 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Splenomegaly, Death in infancy, Macrocytic anemia, Ataxia, Neonatal hypoglycemia |
OMIM:619046 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short nail, Short 4th toe, Failure to thrive, Cone-shaped epiphyses of the ... |
ORPHA:420794 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Lymphopenia, Leukopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Hypertrichosis, Long eyelashes, Thick eyebrow, Hirsutism, Short neck, Anonychia, Widow'... |
OMIM:616455 |
| Leopard Syndrome 3 |
|
Multiple lentigines, Few cafe-au-lait spots, Low posterior hairline, Short neck, Curly hair, Hype... |
OMIM:613707 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, B lymphocytopenia |
OMIM:612692 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Congenital ichthyosiform erythroderma, Sparse body hair, Curly eyelashes, Curly h... |
OMIM:602400 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen... |
OMIM:271510 |
| Neuromyelitis Optica Spectrum Disorder |
|
Functional abnormality of the bladder, Respiratory failure |
ORPHA:71211 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology,... |
ORPHA:79145 |
| Mucopolysaccharidosis, Type Ii |
|
Recurrent pneumonia, Hypertrichosis, Umbilical hernia, Heparan sulfate excretion in urine, Hepato... |
OMIM:309900 |
| Oncogenic Osteomalacia |
|
Abnormal vertebral morphology, Renal phosphate wasting, Abnormal foot morphology, Pathologic frac... |
ORPHA:352540 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Unsteady gait, Failure to thrive, Hypoglycemia, Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
| Nephronophthisis 2 |
|
Nephronophthisis, Respiratory insufficiency, Stage 5 chronic kidney disease, Absence of renal cor... |
OMIM:602088 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Difficulty walking, Respiratory failure, Ankle clonus |
OMIM:613954 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Organic aciduria, Weight loss, Thrombocytopenia, Ataxia |
ORPHA:79242 |
| Dysostosis, Stanescu Type |
|
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Abnormal denta... |
ORPHA:1798 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Tip-toe gait, Difficulty walking, Exercise-induced myoglobinuria, Calf muscle hypertrophy, Hyperl... |
OMIM:607155 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Alopecia totalis, Parakeratosis, Palmoplantar... |
OMIM:300918 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Flexi... |
OMIM:619040 |
| Incontinentia Pigmenti |
|
Supernumerary nipple, Sparse hair, Hyperkeratosis, Onychogryposis, Alopecia, Breast aplasia, Brea... |
OMIM:308300 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Clinodactyly, Male urethral meatus stenosis, Difficulty walking, Overlapping t... |
ORPHA:464738 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin... |
OMIM:608940 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia universalis, Alopecia, Nephrocalcinosis, Cholelithiasis, Type I diabetes mellitus, Femal... |
OMIM:240300 |
| Coffin-Lowry Syndrome |
|
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Craniofacial hyperostosis, Ab... |
ORPHA:192 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent hypoglycemia, Alopecia totalis, Recurrent bronchitis, Recurrent pharyngitis, Decreased ... |
ORPHA:293978 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... |
OMIM:276820 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy, Failure to thrive, Respiratory insufficiency, Hypoketotic hypoglycemia, M... |
OMIM:609015 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Respiratory failure, Ataxia |
ORPHA:1861 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Facial hypertrichosis, Red-brown urine, Thickened skin, Hypopigmentation of the skin,... |
ORPHA:95159 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Alopecia, Recurrent sinusitis, Pulmonary artery stenosis, Recurre... |
ORPHA:85202 |
| Xp21 Deletion Syndrome |
|
Finger clinodactyly, Adrenal insufficiency, Primary adrenal insufficiency, Joint hypermobility, H... |
ORPHA:261476 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Small cell lung carcinoma, Increased circulating cortisol level, Abnormal lymph node morphology, ... |
ORPHA:99889 |
| Brittle Cornea Syndrome 1 |
|
Congenital hip dislocation, Atypical scarring of skin, Dentinogenesis imperfecta, Spondylolisthes... |
OMIM:229200 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Atrophic scars, Nail dystrophy, Abnormal toenail morphology, Scarring, Hyperkeratosis |
ORPHA:89843 |
| Whim Syndrome |
|
Pneumonia, Cellulitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphad... |
ORPHA:51636 |
| Systemic Sclerosis |
|
Chronic kidney disease, Thickened skin, Alopecia, Finger swelling, Abnormal phalangeal joint morp... |
ORPHA:90291 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Coronal craniosynostosis, Alopecia, Fine hair, Hypogonadism, Intrauterine growth retardation, Cry... |
ORPHA:228390 |
| Rapp-Hodgkin Syndrome |
|
Sparse hair, 2-3 toe cutaneous syndactyly, Sparse eyebrow, Palmoplantar keratoderma, Small nail, ... |
OMIM:129400 |
| Boutonneuse Fever |
|
Abnormality of the plantar skin of foot, Cervical lymphadenopathy, Leukopenia, Renal insufficienc... |
ORPHA:83313 |
| Ellis Van Creveld Syndrome |
|
Acute leukemia, Synostosis of carpal bones, Abnormal hair morphology, Abnormality of the ureter, ... |
ORPHA:289 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Small nail, Elbow flexion contracture, Large for gestational age, Micrognathia, Vesicoureteral re... |
OMIM:300868 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Inability to walk, Osteomyelitis, Pathologic fracture, Gait imbalance, Steppage gait, Hyperkeratosis |
ORPHA:36386 |
| Mody |
|
Nephropathy, Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosu... |
ORPHA:552 |
| Pili Torti |
|
Alopecia, Abnormal dental enamel morphology, Abnormal eyebrow morphology, Pili torti, Brittle hai... |
ORPHA:2889 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accum... |
OMIM:256710 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Hypopituitarism, Preaxial foot polyd... |
OMIM:603671 |
| 3C Syndrome |
|
Hypospadias, Hypoplasia of penis, Finger syndactyly, Hypoplastic fingernail, Abnormal hip bone mo... |
ORPHA:7 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Premature adrenarche, Cryptorchidism, Renal salt wasting, Neonatal hypoglycemia, Hypospadias, Abn... |
ORPHA:90791 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... |
OMIM:207750 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Weight loss, Splenomegaly |
ORPHA:79238 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Gout, Nep... |
OMIM:232200 |
| 17Q11 Microdeletion Syndrome |
|
Thickened skin, Large hands, Leukemia, Precocious puberty, Osteopenia, Glomus jugular tumor, Frec... |
ORPHA:97685 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Respiratory failure |
OMIM:613435 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Ataxia, Osteopenia, Toenail dysplasia, Microretrognathia, Intrauterine growth retardation, Gait i... |
OMIM:300966 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Thyroiditis, Osteopenia, Nephrocalcinosis, Hypoglycemic seizures, Failure to thrive, Hypoglycemia... |
ORPHA:79259 |
| Saul-Wilson Syndrome |
|
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... |
OMIM:618150 |
| Czech Dysplasia |
|
Platyspondyly, Limitation of joint mobility, Short toe, Short femoral neck, Flexion contracture, ... |
OMIM:609162 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Hypoglycemia, Patent ductus arteriosus after premature birth, Knee fle... |
OMIM:620454 |
| Cowden Syndrome |
|
Abnormal penis morphology, Follicular thyroid carcinoma, Palmoplantar keratoderma, Adenoma sebace... |
ORPHA:201 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Finger syndactyly, Cryptorchidism, Abnormal metacarpal morphology, ... |
ORPHA:2658 |
| Cystic Echinococcosis |
|
Pulmonary cyst, Abnormality of the testis size, Abnormality of the vertebral column, Splenic cyst... |
ORPHA:400 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Hyperkera... |
OMIM:604292 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Loose anagen hair, Failure to thrive, Multiple lentigines, Long eyelashes, Large for gestational ... |
OMIM:607721 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... |
OMIM:119600 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Recurrent pneumonia, Intrauterine growth retardation, Micrognathia, Leukopenia, 3-Met... |
OMIM:616271 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Urinary incontinence, Pes cavus, Limb dysmetria, Upper limb dysmetria, Ankle clonus, Spastic gait... |
OMIM:614409 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... |
ORPHA:248 |
| Immunodeficiency, Common Variable, 10 |
|
Recurrent pneumonia, Hypoglycemia, Decreased response to growth hormone stimulation test, Alopeci... |
OMIM:615577 |
| Cystinosis, Nephropathic |
|
Genu valgum, Hematuria, Weight loss, Aminoaciduria, Generalized aminoaciduria, Male hypogonadism,... |
OMIM:219800 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Sparse eyebrow, Limitation of joint mobility, Long foot, Difficulty walking, Lumbar hyperlordosis... |
ORPHA:457359 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... |
ORPHA:70591 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Acute leukemia, Hypogonadism, Renal insufficiency, Cryptorchidism, Ich... |
ORPHA:281090 |
| Fliedner-Zweier Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Joint hypermobility, Hydronephr... |
OMIM:620511 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Reactive hypogl... |
ORPHA:35878 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Obesity, Ataxia, Hypopigme... |
ORPHA:411515 |
| Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of clas... |
OMIM:619652 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Toe syndactyly, Structural foot deformity, Cryptorchidism, Arachnodactyly, Anterior pituitary hyp... |
ORPHA:464306 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Gout, Spl... |
OMIM:232220 |
| Congenital Erythropoietic Porphyria |
|
Thickened skin, Facial hypertrichosis, Increased connective tissue, Poikilocytosis, Osteopenia, H... |
ORPHA:79277 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Cryptorchidism, Death in childhood, Micropenis, Respiratory failure |
OMIM:619847 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency... |
ORPHA:133 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Broad thumb, Intrauterine growth retardation, Micrognathia, Obesity, Congenital diap... |
ORPHA:251071 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Aspiration pneumonia, Genu valgum, Urinary glycosaminoglycan excretion... |
ORPHA:581 |
| Mogs-Cdg |
|
Alopecia, Fair hair, Long eyelashes, Overlapping fingers, Hepatosplenomegaly, Hirsutism, Pulmonar... |
ORPHA:79330 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Respiratory insufficiency, Abnormal fingernail morphology, Emphys... |
ORPHA:1164 |
| Prolactinoma |
|
Secondary growth hormone deficiency, Osteopenia, Female hypogonadism, Male hypogonadism, Adrenoco... |
ORPHA:2965 |
| Alveolar Echinococcosis |
|
Abnormal vertebral morphology, Pulmonary cyst, Low back pain, Renal cyst, Eosinophilia, Abnormal ... |
ORPHA:284 |
| Singleton-Merten Syndrome 2 |
|
Osteopenia, Osteolytic defects of the phalanges of the hand, Scoliosis, Hyperkeratosis |
OMIM:616298 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Abnormal vertebral morphology, Small hand, Aspiration pneumonia, Hyperglycemia, Micrognathia, Abn... |
ORPHA:444077 |
| Pediatric Systemic Lupus Erythematosus |
|
Nephritis, Alopecia, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Dark urine, Pleu... |
ORPHA:93552 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Intrauterine growth retardation, Dysmetria, Thrombocytopenia, Ataxia, Athetosis |
OMIM:617710 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati... |
OMIM:266900 |
| Stickler Syndrome, Type I |
|
Platyspondyly, Abnormal femoral epiphysis morphology, Irregular femoral epiphysis, Micrognathia, ... |
OMIM:108300 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... |
OMIM:119800 |
| Variegate Porphyria, Childhood-Onset |
|
Scarring, Short metacarpal, Epidermal hyperkeratosis, Short finger |
OMIM:620483 |
| Cdags Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Porokeratosis, Rectourethr... |
OMIM:603116 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Loss of ambulation, Type I diabetes mellitus, Respiratory failure, Ataxia |
OMIM:620166 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Hypoglycemia, Elbow contracture, Umbilical hernia, Intrauterine growth retardation, Knee contract... |
OMIM:620275 |
| Degcags Syndrome |
|
Chronic kidney disease, Toe syndactyly, Premature graying of hair, Hepatosplenomegaly, Micrognath... |
OMIM:619488 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema, Coarse hair, Epiphyseal stippling, Hip contracture, Knee flexion co... |
OMIM:118650 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamart... |
ORPHA:143 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Nail dystrophy, Linear arrays of macular hyper... |
OMIM:601952 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Scoliosis, Respiratory failure |
ORPHA:98913 |
| Microsporidiosis |
|
Pneumonia, Nephritis, Bronchiolitis, Lymphadenitis, Bronchitis, Abnormality of the parathyroid gl... |
ORPHA:2552 |
| Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Secondary hyperaldosteronism, Reduced circulating transferrin concentration, Hyp... |
ORPHA:90363 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Splenopancreatic fusion, H... |
OMIM:269150 |
| Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Death in childhood, Neonatal death, Absent eyelashe... |
OMIM:308205 |
| Immunodeficiency 10 |
|
Recurrent pneumonia, Hypoglycemia, Autoimmune hemolytic anemia, Splenomegaly, Nail dysplasia, Ame... |
OMIM:612783 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Hypopigmented skin patches, Mic... |
ORPHA:84 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse body hair, Pleural effusion, Abnormality of the lymphatic system, Absent eyelash... |
ORPHA:69735 |
| Juvenile Polyposis Of Infancy |
|
Midclavicular hypoplasia, Broad thumb, Subcutaneous lipoma, Broad phalanx of the toes, Cachexia, ... |
ORPHA:79076 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Clinodactyly of the 5th... |
ORPHA:2916 |
| Spondyloenchondrodysplasia |
|
Pneumonia, Hypoplastic ilia, Platyspondyly, Short distal phalanx of finger, Chronic kidney diseas... |
ORPHA:1855 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Ichthyosis, Weight loss, Hyperkeratosis, Congenital bullous ichthyosifo... |
ORPHA:312 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Palmoplantar keratoderma, Leukonychia, Nail dystrophy, Ichthyosis, Parakeratosis, Woolly hair, Hy... |
OMIM:615821 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Neonatal respiratory distress, Long eyelashes, Intrauterine growth retarda... |
OMIM:619005 |
| Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Umbilical hernia, Breast hypoplasia, Micrognathia, Sparse eyelashes, Jo... |
OMIM:230740 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cryptorchidism, Flexion contracture of finger, Short foot, Hypospadias, Posterior pituitary hypop... |
ORPHA:464311 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Ataxia |
OMIM:614299 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Joint contracture of the hand, Chylothorax, Knee contracture, Death in childhood, Death in infanc... |
OMIM:620278 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Neonatal respiratory distress, Elevated urine suberic acid level, Methylmalonic aciduria, Hypogly... |
OMIM:248360 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hypoglycemia, Ren... |
OMIM:231680 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Ichthyosis, Death in childhood, Inguinal hernia, Joint contracture, Hyperkeratosis, Congenital no... |
OMIM:614457 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Emphysema, Genu valgum, Stage 5 chronic kidney disease, Hypophosphatem... |
OMIM:618913 |
| Hypotrichosis Simplex Of The Scalp |
|
Sparse scalp hair, Fine hair, Alopecia of scalp, Parakeratosis, Hyperkeratosis, Slow-growing scal... |
ORPHA:90368 |
| Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Abnormal hair morphology,... |
OMIM:604117 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Increased circulating prolactin concentration, Aspiration pneumonia, Cryptorchi... |
ORPHA:438213 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Hemo... |
ORPHA:906 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Palmoplantar keratoderma, Nail dystrophy, Parakeratosis, Short neck, Follicular hyperkeratosis, F... |
OMIM:615225 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymme... |
ORPHA:289176 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Ankle swelling, Abnormal shoulder morphology, Abnormal hip joint morphology, ... |
ORPHA:85408 |
| Netherton Syndrome |
|
Aminoaciduria, Sparse eyebrow, Irregular hyperpigmentation, Fine hair, Abnormal hair morphology, ... |
ORPHA:634 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Non-caseating epithelioid cell granulomatosis, Alopecia, Aplasia/Hypoplasia of the spleen, Rheuma... |
ORPHA:227982 |
| D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
| Lamellar Ichthyosis |
|
Renal insufficiency, Ichthyosis, Aplasia/Hypoplasia of the eyebrow, Recurrent respiratory infecti... |
ORPHA:313 |
| Cockayne Syndrome A |
|
Dry hair, Square pelvis bone, Limitation of joint mobility, Hypoplastic iliac wing, Reduced subcu... |
OMIM:216400 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus... |
ORPHA:232 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Non-caseating epithelioid cell granulomatosis, Alopecia, Aplasia/Hypoplasia of the spleen, Rheuma... |
ORPHA:227990 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Obesity, Vesicoureteral reflux, Low anterior hairline, Arachnodactyly, Pr... |
ORPHA:261222 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Recurrent sinopu... |
OMIM:616576 |
| Ichthyosis With Erythrokeratoderma |
|
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Leukonychia, Diffuse palmoplanta... |
OMIM:620507 |
| Pfapa Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyngitis |
ORPHA:42642 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Slender build, Arachnodactyly, Pes planus, Neonatal hypoglycemia, Scoliosis |
OMIM:617600 |
| Granulomatous Disease, Chronic, X-Linked |
|
Cellulitis, Recurrent pneumonia, Lymphadenitis, Atelectasis, Osteomyelitis, Impaired oxidative bu... |
OMIM:306400 |
| Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Precocious puberty, Fine hair, Woolly scalp hair, Hetero... |
ORPHA:79414 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hip dislocation, Atrophic scars, Joint hypermobility, Talipes equinovarus, Bladder diverticulum, ... |
OMIM:617821 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Mgat2-Cdg |
|
Osteopenia, Failure to thrive, Long eyelashes, Hirsutism, Hypoplastic nipples, Patent ductus arte... |
ORPHA:79329 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypoglycemia, Cryptorchidism, Death in infancy, H... |
ORPHA:95496 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Absent circulating B cells, Failure to thrive, Thrombocytopenia |
OMIM:619693 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Alopecia, Hypopituitarism, Type II diabetes mellitus, Reduced circulating growth hormone concentr... |
OMIM:620651 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Aplasia of the 1st metacarpal, Unilateral radial aplasia, Failure to thrive, Micrognathia, Partia... |
ORPHA:476126 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Obesity, Gait imbalance, L... |
ORPHA:98794 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Sandal gap, Thick eyebrow, Frontal upsweep of hair, Micrognathia, Hirsutism, Low anterior hairlin... |
OMIM:617061 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Anterior pituitary agenesis, Osteopenia, Ectopic anterior pituitary ... |
ORPHA:95494 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Yellow nails, Palmoplantar keratoderma, Palmoplantar blistering, Hypergranulosis, Nail dystrophy,... |
OMIM:148700 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... |
ORPHA:1788 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Micrognathia, Metatarsus valgus, Joint hypermobility, Hypothyroidism, Genu varum, Ata... |
ORPHA:2479 |
| Crimean-Congo Hemorrhagic Fever |
|
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... |
ORPHA:99827 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Weig... |
ORPHA:33355 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Failure to thrive, Breast apla... |
ORPHA:238468 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Decreased testicular size, Cryptorchidism, Micropenis, Proximal placement of thumb, Kyphosis |
OMIM:615433 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Ichthyosis, Follicular hyperkeratosis, Brittle hair, Congenital nonbullous ic... |
OMIM:618546 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Glomerulonephritis, Tubulointerstitial nephritis, Argininur... |
ORPHA:470 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Elevated circulating calcitonin concentration, Proximal femoral epiphysiolysis, Failure to thrive... |
OMIM:162300 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H... |
OMIM:620211 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Thin ribs, Overlapping toe, Micrognathia, Contracture of the distal interphalangeal joint of the ... |
ORPHA:83617 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Failure to thrive, Difficulty walking, Inability to walk, Dystonic gait, Ataxia, Respiratory failure |
ORPHA:280210 |
| Cole-Carpenter Syndrome 2 |
|
Thin ribs, Platyspondyly, Dentinogenesis imperfecta, Microretrognathia, Lambdoidal craniosynostos... |
OMIM:616294 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Onychogryposis of fingernail, Ulnar deviation of finger, Ridged fingernail, Arthrogryposis multip... |
ORPHA:2215 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Palmoplantar keratoderma, Failure to thrive, Ichthyosis, Sparse hair, Fragile nails |
OMIM:242150 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Recurrent pneumonia, Inability to walk, Elbow flexion contracture, Obesity, Genu valgum, Hip cont... |
OMIM:618493 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp... |
OMIM:608647 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Fucosidosis |
|
Abnormality of the nail, Failure to thrive, Generalized hyperkeratosis, Mucopolysacchariduria, Hy... |
ORPHA:349 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Elevated c... |
OMIM:609441 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Nail dyspla... |
OMIM:612843 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Thick eyebrow, Recurrent f... |
ORPHA:2769 |
| Diffuse Alveolar Hemorrhage |
|
Ground-glass opacification, Leukocytosis, Pulmonary infiltrates, Hematuria, Proteinuria, Weight l... |
ORPHA:90060 |
| Lateral Meningocele Syndrome |
|
Coarse hair, Keloids, Umbilical hernia, Sclerosis of skull base, Micrognathia, Inguinal hernia, B... |
OMIM:130720 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Ureterocele, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Sparse ha... |
OMIM:129900 |
| Amyotrophic Lateral Sclerosis |
|
Cachexia, Respiratory failure |
ORPHA:803 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee... |
ORPHA:699 |
| Diarrhea 13 |
|
Failure to thrive, Recurrent hypoglycemia |
OMIM:620357 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Pulmonary artery hypoplasia, Bilateral cryptorchidism, Decreased testicular size, Hyp... |
ORPHA:2326 |
| Hardikar Syndrome |
|
Hepatosplenomegaly, Hypersplenism, Impaired growth-hormone response to glucagon stimulation test,... |
OMIM:301068 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Hypoglycemia, Androgen insufficiency, Increased circulating... |
ORPHA:95409 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyebrow, Orthokeratosis, Splenomegaly, Ichthyosis, Sparse eyelashes, Parakeratos... |
OMIM:607626 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Small nail, Talipes equinovalgus, Fibular... |
OMIM:228900 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Pes cavus, Gait ataxia, Limb ataxia, Dysmetria, Scoliosis, Kyphosis |
OMIM:610743 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Failure to thrive, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphaden... |
OMIM:614700 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Neonatal respiratory distress, Chylothorax, Congenital contracture, Thymus hyperplasia, Micrognat... |
OMIM:619036 |
| Intestinal Dysmotility Syndrome |
|
Pes valgus, Weight loss, Failure to thrive |
OMIM:620045 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... |
OMIM:620150 |
| Restrictive Dermopathy |
|
Thin ribs, Structural foot deformity, Micrognathia, Large placenta, Decreased skull ossification,... |
ORPHA:1662 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Hypoglycemia |
OMIM:615160 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Generalized ichthyosis,... |
OMIM:615024 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
| Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Respiratory insufficiency, Difficulty walking, Ankle clonus, Ataxia, Osteoporosis |
OMIM:213700 |
| Adult Syndrome |
|
Alopecia, Toenail dysplasia, Absent nipple, Toe syndactyly, Fine hair, Finger syndactyly, Breast ... |
ORPHA:978 |
| Kid Syndrome |
|
Trichilemmoma, Sparse eyebrow, Palmoplantar keratoderma, Failure to thrive, Patellar hypoplasia, ... |
ORPHA:477 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Hypoglycemia, Abnormal circulating aldosterone, Increased ... |
OMIM:614736 |
| Adrenoleukodystrophy |
|
Alopecia, Urinary bladder sphincter dysfunction, Hypogonadism, Limb ataxia, Primary adrenal insuf... |
OMIM:300100 |
| Phocomelia, Schinzel Type |
|
Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,... |
ORPHA:2879 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Postaxial foot polydactyly, Contractures of the large joints, Failure to thrive, Respiratory insu... |
ORPHA:521426 |
| Prader-Willi Syndrome Due To Translocation |
|
Small hand, Clinodactyly, Overlapping toe, Micrognathia, Short neck, Pes planus, Anterior pituita... |
ORPHA:177907 |
| Riboflavin Deficiency |
|
Hypoglycemia, Dicarboxylic aciduria |
OMIM:615026 |
| Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Precocious puberty, Abnormal circulating adrenocorticotropin concentration... |
ORPHA:361 |
| Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... |
ORPHA:91347 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Thickened skin, Hypocalciuria, Depigmentation/hyperpigmentation of skin, Clinodactyly... |
ORPHA:73223 |
| Snakebite Envenomation |
|
Hypopituitarism, Acute kidney injury, Respiratory failure, Thrombocytopenia |
ORPHA:449285 |
| Sheehan Syndrome |
|
Secondary growth hormone deficiency, Sparse pubic hair, Decreased serum estradiol, Adrenocorticot... |
ORPHA:91355 |
| Idiopathic Trachyonychia |
|
Toenail dysplasia, Fingernail dysplasia, Ridged nail, Vitiligo, Nail dystrophy, Ichthyosis, Patch... |
ORPHA:79153 |
| Hsd10 Disease, Infantile Type |
|
Loss of ambulation, Abnormal concentration of acylcarnitine in the urine, Choreoathetosis, Hypogl... |
ORPHA:391428 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, Failure to thrive, Respiratory insufficiency, Congenital hypoth... |
OMIM:617527 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Hypoglycemia, Respiratory insufficiency, 3-Methylglutaconic aciduria, Respirat... |
OMIM:618329 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Respiratory failure, Dysmetria, Ataxia |
OMIM:618233 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hypergranulosis, Leukonychia, Nail dystrophy, Anonychia, Punctate palmoplantar hyperkeratosis, Hy... |
ORPHA:79151 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Joint hypermobility, Hydronephr... |
OMIM:617093 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Patchy alopecia, Scarring alopecia of scalp, Scarring |
ORPHA:346 |
| Cockayne Syndrome Type 2 |
|
Male hypogonadism, Difficulty walking, Intrauterine growth retardation, Cryptorchidism, Scarring,... |
ORPHA:90322 |
| Heart Block, Congenital |
|
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... |
OMIM:234700 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Partial albinism, Pancytopeni... |
ORPHA:79477 |
| Proteus-Like Syndrome |
|
Genu recurvatum, Irregular hyperpigmentation, Lower limb asymmetry, Bronchogenic cyst, Subcutaneo... |
ORPHA:2969 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hypopigmentation of the skin, Palmoplantar keratoderma, Failure to thrive, Atrophic sca... |
ORPHA:79396 |
| Micro Syndrome |
|
Intrauterine growth retardation, Micrognathia, Joint stiffness, Cryptorchidism, Abnormality of re... |
ORPHA:2510 |
| Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Sea-blue histiocytosis, Respiratory insufficiency, Bone-marrow foa... |
OMIM:607625 |
| Obesity And Hypopigmentation |
|
Red hair, Obesity, Hyperinsulinemia |
OMIM:620195 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of... |
OMIM:618223 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture, Respiratory failure, Pes planus, Failure to thrive |
ORPHA:88618 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Atrophic scars, Follicular hyperkeratosis |
ORPHA:79100 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Avascular necrosis of the capital femoral epiphysis, Grade II vesicoureteral r... |
OMIM:619377 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Tip-toe gait, Failure to thrive, Hypertrichosis, Joint hypermobility, Pes planus, Brachydactyly, ... |
OMIM:618050 |
| Glycogen Storage Disease Iii |
|
Hypoglycemia |
OMIM:232400 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Alopecia, Coarse hair, Recurrent pneumonia, Chronic monilial nail infection, Nail dyst... |
OMIM:158310 |
| Hypotrichosis 5 |
|
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... |
OMIM:612841 |
| Pleural Mesothelioma |
|
Abnormal pleura morphology, Pleural effusion, Weight loss, Lymphadenopathy, Abnormal lung morphology |
ORPHA:50251 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Genu recurvatum, Slender build, Cryptorchidism, Joint hypermobility, Hydronephrosis, Pes planus, ... |
ORPHA:364028 |
| Osteopathia Striata With Cranial Sclerosis |
|
Multicystic kidney dysplasia, Joint contracture of the hand, Fibular aplasia, Micrognathia, Arach... |
OMIM:300373 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Brachydactyly, Short palm |
ORPHA:3217 |
| Alopecia Totalis |
|
Type I diabetes mellitus, Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, Trachyonych... |
ORPHA:700 |
| Juvenile Huntington Disease |
|
Broad-based gait, Gait ataxia, Weight loss, Ataxia, Progressive cerebellar ataxia |
ORPHA:248111 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Vertebral segmentation defect, Aplasia of the thymus, Split hand, Foot polydactyly, Phocomelia |
ORPHA:3004 |
| Netherton Syndrome |
|
Brittle scalp hair, Sparse eyebrow, Failure to thrive, Hypereosinophilia, Parakeratosis, Brittle ... |
OMIM:256500 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Dicarboxylic aciduria |
ORPHA:79159 |
| Propionic Acidemia |
|
Organic aciduria, Hypoglycemia |
ORPHA:35 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Renal hypoplasia, Decreased testicular size, Intrauterine growth retardation, Genu valg... |
OMIM:619321 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... |
ORPHA:94093 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Pigmentary retinopathy, Tip-toe gait, Aspiration pneumonia, Inability to walk, Increased suscepti... |
ORPHA:216866 |
| Wilson Disease |
|
Failure to thrive, Difficulty walking, Pathologic fracture, Splenomegaly, Increased body weight, ... |
ORPHA:905 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Abnormal de... |
ORPHA:79430 |
| Osteogenesis Imperfecta, Type Vii |
|
Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Wide anterior fontanel, Micromelia, Absent pul... |
OMIM:610682 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Elevated circulating luteinizing hormone level, Streak ovary, Cryptorchidism, Nephrotic syndrome,... |
ORPHA:251510 |
| Osteogenesis Imperfecta, Type Iv |
|
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Recurrent fr... |
OMIM:166220 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... |
ORPHA:988 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Splenomegaly, Hypoglycemia |
ORPHA:664 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobuli... |
OMIM:227810 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Trichiasis, Sparse eyebrow, Elbow flexion contracture, Corneal scarring, Pes cavus, Nail dystroph... |
OMIM:148210 |
| Kindler Epidermolysis Bullosa |
|
Atypical scarring of skin, Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, ... |
ORPHA:2908 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
| Hemochromatosis, Neonatal |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:231100 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Joint contracture of the hand, Decreased circulating dehydroepiandrosterone concentration, Carpal... |
OMIM:201750 |
| Hypotrichosis 6 |
|
Sparse eyebrow, Sparse eyelashes, Pili torti, Follicular hyperkeratosis, Brittle hair, Sparse hair |
OMIM:607903 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... |
OMIM:119100 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... |
OMIM:614929 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Zttk Syndrome |
|
Small hand, Absent gallbladder, Curly hair, Short foot, Patent ductus arteriosus, Sparse eyebrow,... |
OMIM:617140 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Type I diabetes mellitus, Alopecia, Graves disease, Hypopigmented skin patches, Hypogonadism, Abn... |
ORPHA:3143 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Absent toenail, Congenital diaphragm... |
OMIM:305600 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology, Fib... |
ORPHA:2634 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
| Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Gait ataxia, Dysmetria, Gait disturbance, Weight loss |
ORPHA:157941 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Micromelia, Abnorm... |
ORPHA:3144 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Type I diabetes mellitus, Failure to thrive, Microcytic anemia, Micrognathi... |
OMIM:619525 |
| Ophthalmomandibulomelic Dysplasia |
|
Lateral humeral condyle aplasia, Radial bowing, Decreased mobility 3rd-5th fingers, Ulnar deviate... |
OMIM:164900 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Osteomyelitis, Gait ataxia, Flexion contracture of finger, Gait disturban... |
ORPHA:88628 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Pulmonary infiltrates, Pulmonary edema, Respiratory failure, Diabetic ketoacidosis |
ORPHA:70578 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Increased proinsulin:insulin ratio, Elevated circulating thyroid-stimulating ho... |
ORPHA:94086 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Mesomelia, Broad thumb, Clinodactyly, Long eyelashes, Micrognathia, Vesicoureteral reflux, Crypto... |
OMIM:616894 |
| Pyruvate Carboxylase Deficiency |
|
Athetosis, Hypoglycemia, Proximal renal tubular acidosis |
OMIM:266150 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Micrognathia, Hydroureter, Sparse eyelashes |
OMIM:616367 |
| Sepsis In Premature Infants |
|
Tachycardia, Hypotension, Bradycardia |
ORPHA:90051 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Atlantoaxial instability, Umbilical hernia, Large joint hypermobilty, Atrophic scars,... |
OMIM:614557 |
| Acromelic Frontonasal Dysplasia |
|
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Hypopituitarism, Preaxial foot polydactyly,... |
ORPHA:1827 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Leukopenia, Stage 5 chronic kidney disea... |
OMIM:251000 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Anterior rib cupp... |
OMIM:271665 |
| Acromegaly |
|
Thickened skin, Pituitary prolactin cell adenoma, Broad foot, Abnormal toenail morphology, Genera... |
ORPHA:963 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Elbow flexion contracture, Calf muscle hypertrophy, Kyphosis, Waddling gait |
OMIM:618138 |
| Brachyolmia Type 3 |
|
Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met... |
OMIM:113500 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Pes cavus, Gait disturbance, Ataxia, Scoliosis, Kyphosis |
ORPHA:99014 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Abnormality of the pulmona... |
ORPHA:895 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormality of the lower limb |
ORPHA:2023 |
| Coffin-Siris Syndrome 1 |
|
Facial hypertrichosis, Dry hair, Hypoplastic fifth fingernail, Congenital diaphragmatic hernia, C... |
OMIM:135900 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Pulmonary arterial hypertension, Bradycardia, Tachycardia, Cardiac arrest |
OMIM:277400 |
| Lymphatic Filariasis |
|
Urethral obstruction, Nephrotic syndrome, Ankle swelling, Lymphadenitis, Hypereosinophilia, Orchi... |
ORPHA:2035 |
| Lysosomal Acid Lipase Deficiency |
|
Hypernatriuria, Failure to thrive, Abnormal urine potassium concentration, Adrenal calcification,... |
ORPHA:275761 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Xeroderma Pigmentosum |
|
Aminoaciduria, Craniofacial hyperostosis, Alopecia, Thickened skin, Failure to thrive, Hypopigmen... |
ORPHA:910 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Ataxia, Failure to thrive, Hypoglycemia, Respiratory insufficiency, Splenomegaly, 3-hydroxydicarb... |
OMIM:252010 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Lymphatic Malformation 4 |
|
Cellulitis, Toenail dysplasia, Hydrocele testis, Hyperkeratosis, Pedal edema |
OMIM:615907 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Limitation of joint mobility, Ureteral stenosis, Ocular albinism, Abnormal... |
ORPHA:2719 |
| Relapsing Polychondritis |
|
Alopecia, Limitation of joint mobility, Atelectasis, Renal insufficiency, Hematuria, Proteinuria,... |
ORPHA:728 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Abnormal pleura morphology, Weight loss, Tubulointerstitial nephr... |
ORPHA:797 |
| Phakomatosis Pigmentokeratotica |
|
Precocious puberty, Hemiatrophy, Unilateral renal hypoplasia, Pheochromocytoma, Cryptorchidism, H... |
ORPHA:2874 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Hepatic fibrosis, Renal hypoplasia, Severe B lymphocytopenia, Exocrine pancreat... |
OMIM:620005 |
| Mosaic Trisomy 20 |
|
Clinodactyly, Spinal canal stenosis, Horseshoe kidney, Intrauterine growth retardation, Micrognat... |
ORPHA:1724 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Highly arched eyebrow, Broad distal phalanx of finger, Postaxial foot polydactyly, Lower limb asy... |
ORPHA:404440 |
| Rhabdoid Tumor |
|
Respiratory insufficiency, Hematuria, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia |
ORPHA:69077 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Atrophic scars, Corneal scarring, Nail dystrophy, Nail dysplasia, Mitten deformity, Ena... |
OMIM:226600 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia, Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... |
OMIM:201910 |
| Dietary Iron Overload Disease |
|
Abnormal thyroid morphology, Increased circulating cortisol level, Abnormal pancreas morphology, ... |
ORPHA:139507 |
| Pseudohypoparathyroidism Type 1A |
|
Low urinary cyclic AMP response to PTH administration, Short neck, Short metacarpal, Choreoatheto... |
ORPHA:79443 |
| Kallmann Syndrome |
|
Breast hypoplasia, Decreased testicular size, Pes cavus, Obesity, Cryptorchidism, Recurrent fract... |
ORPHA:478 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Hypopigmented skin patches, Respiratory insufficiency, Abnormal pleura morphology, Renal insuffic... |
ORPHA:183 |
| Follicular Lymphoma |
|
Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:545 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypoglycemia, Intrauterine growth retardation, Death in infancy, Neonatal death, Decreased circul... |
OMIM:618835 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Hypochromic anemia, White hair, Ocular albinism, Abnormal hip bone morphol... |
ORPHA:2720 |
| Lichen Planopilaris |
|
Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Onycholysis, Hyperkeratosis |
ORPHA:525 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Microretrognathia, Failure to thrive, Polysplenia, Hypoglycemia, Failure to thr... |
OMIM:619418 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Intrauterine growth retardation, Death in infancy, Neonatal death, Decreased circul... |
OMIM:618839 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Slender long bone, Failure to thrive, Emphysema, Breast hypoplasia, Intrauterine... |
OMIM:613804 |
| Isolated Complex I Deficiency |
|
Proximal tubulopathy, Failure to thrive, Hypoglycemia, Respiratory insufficiency, Intrauterine gr... |
ORPHA:2609 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development |
|
Alopecia, Ichthyosis |
OMIM:242510 |
| Pallister-Killian Syndrome |
|
Hyperpigmented streaks, Small hand, Postaxial foot polydactyly, Supernumerary nipple, Micrognathi... |
OMIM:601803 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Renal hamart... |
ORPHA:99880 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalg... |
ORPHA:818 |
| Acute Lung Injury |
|
Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo... |
ORPHA:178320 |
| Beta-Ketothiolase Deficiency |
|
Ataxia, Ketonuria, Hypoglycemia, Hyperglycemia, Leukocytosis, Weight loss, Thrombocytosis |
ORPHA:134 |
| Noonan Syndrome 2 |
|
Sparse eyebrow, Prominent fingertip pads, Hypermelanotic macule, Melanocytic nevus, Micrognathia,... |
OMIM:605275 |
| Thalidomide Embryopathy |
|
Insulin resistance, Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humeru... |
ORPHA:3312 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Aciduria, Failure to thrive, Tracheomalacia, 3-Methylglutaconic aciduria, Ataxia, Osteoporosis, S... |
OMIM:203700 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Abnormality of retinal pigmentation, Failure to thrive, Hypoglycemia |
ORPHA:5 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaric aciduria, Failure to thrive, 3-Methylglutaconic aciduria, Neonatal death, Death ... |
OMIM:617248 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Yunis-Varon Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Aspiration pneumonia, Micrognathia, Cryptorch... |
OMIM:216340 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Intrauterine growth retardation, Respiratory failure, Death in infancy |
OMIM:610678 |
| Shigellosis |
|
Pneumonia, Acute kidney injury, Microangiopathic hemolytic anemia, Hypoglycemia, Urethritis, Fail... |
ORPHA:810 |
| Somatomammotropinoma |
|
Thickened skin, Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, ... |
ORPHA:314769 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
| Fabry Disease |
|
Nephropathy, Respiratory insufficiency, Emphysema, Abnormal femur morphology, Renal insufficiency... |
ORPHA:324 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem... |
OMIM:620430 |
| Microphthalmia, Lenz Type |
|
Hypospadias, Hydroureter, Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morpholog... |
ORPHA:568 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... |
OMIM:250220 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... |
OMIM:114000 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Cryptorchidism, Generalized hirsutism, Foot polydactyly, Short foot, H... |
ORPHA:1606 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Recurrent upper respiratory tract infections, Hypoglycemia |
OMIM:620137 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Intrauterine growth retardation, Micrognathia, Congeni... |
ORPHA:2075 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Cryptorchidism, Low posterior hairline, Talipes equinovarus, Radioulnar synostosis,... |
OMIM:194190 |
| Noonan Syndrome 14 |
|
Sparse eyebrow, Clinodactyly, Lymphopenia, Limited elbow extension, Cryptorchidism, Low posterior... |
OMIM:619745 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Parakeratosis, Hyperkeratosis, Kyphoscoliosis |
OMIM:618339 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the ureter, Overlapping toe, Micrognathia, Overlapping fingers, Streak ovary, Radi... |
ORPHA:798 |
| Ichthyosis Prematurity Syndrome |
|
Neonatal asphyxia, Alopecia of scalp, Hyperpigmentation of the skin, Follicular hyperkeratosis, G... |
OMIM:608649 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Osteopenia, Ectopic anterior pituitary gland, Hypoglycemia, Hypopitu... |
ORPHA:90695 |
| Glucocorticoid Deficiency 1 |
|
Failure to thrive, Recurrent hypoglycemia, Abnormal circulating aldosterone, Increased circulatin... |
OMIM:202200 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Cholelithiasis, Type I diabetes mellitus, Hepatosplenomegaly, Pleural effusion, Renal... |
ORPHA:171 |
| Kleefstra Syndrome 2 |
|
Thick eyebrow, Scoliosis, Kyphosis |
OMIM:617768 |
| Lipoid Proteinosis |
|
Thickened skin, Alopecia of scalp, Scarring, Recurrent respiratory infections, Hyperkeratosis |
ORPHA:530 |
| Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Failure to thrive, Premature g... |
ORPHA:3322 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair, Lymphopenia, Reduced bone mineral density, Inguinal hernia, Long fibula, A... |
ORPHA:935 |
| Listeriosis |
|
Pneumonia, Acute kidney injury, Stiff neck, Osteomyelitis, Pyelonephritis, Hepatic granulomatosis... |
ORPHA:533 |
| Carnitine Deficiency, Systemic Primary |
|
Recurrent hypoglycemia, Impaired gluconeogenesis, Failure to thrive, Dicarboxylic aciduria |
OMIM:212140 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Generalized aminoaciduria, Inability to walk, Increased susceptibility to fractures, Limb joint c... |
ORPHA:404454 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, Elevated circ... |
OMIM:620565 |
| Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Alopecia, Subcutaneous lipoma, Linear hyperpigmentation, Cr... |
OMIM:613001 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Long eyelashes, Obesity, Broad lateral eyebrow, Brachydactyly, Neonatal hypoglycemia |
OMIM:608624 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Broad-based gait, Failure to thrive, Painless fractures due to injury, Recurrent hypoglycemia, Hy... |
OMIM:256810 |
| Immunodeficiency 7 |
|
Failure to thrive, Vitiligo, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Patchy... |
OMIM:615387 |
| Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Cryptorchidism |
ORPHA:461 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Thickened skin, Proximal radio-ulnar synostosis, Abnormality of the vertebral column, Joint stiff... |
ORPHA:2062 |
| Localized Scleroderma |
|
Thickened skin, Hypopigmented skin patches, Abnormal skin adnexa morphology, Fasciitis, Sclerosis... |
ORPHA:90289 |
| Orofaciodigital Syndrome I |
|
Alopecia, Dry hair, Microretrognathia, Clinodactyly, Radial deviation of finger, Myelomeningocele... |
OMIM:311200 |
| Noonan Syndrome 10 |
|
Sparse eyebrow, Pleural effusion, Cryptorchidism, Palmoplantar cutis laxa, Short neck, Hyperpigme... |
OMIM:616564 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Micrognathia, Arachnodactyly, Talipes equinovarus, Pes planus, Pat... |
OMIM:610168 |
| Björnstad Syndrome |
|
Hypogonadism, Alopecia, Brittle hair |
ORPHA:123 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... |
ORPHA:3337 |
| Alexander Disease |
|
Precocious puberty, Osteopenia, Failure to thrive, Respiratory insufficiency, Short neck, Gait di... |
ORPHA:58 |
| Wilson Disease |
|
Aminoaciduria, Chondrocalcinosis, Glycosuria, Osteomalacia, Hyperphosphaturia, Renal tubular dysf... |
OMIM:277900 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Orthokeratosis, Hyperparakeratosis, Abnormal hair morphology, Ichthyosis, Palmoplantar hyperkerat... |
OMIM:607602 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Thick eyebrow, Short umbilical cord, Short humerus, Short femur, Tapered finger |
OMIM:618367 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypoglycemia, Pathologic fracture, Adrenal insufficiency, Adrenocorti... |
OMIM:307030 |
| Distal Deletion 19P |
|
Alopecia, Keloids, Umbilical hernia, Thick eyebrow, Joint hypermobility, Arachnodactyly, Long toe... |
ORPHA:96129 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of joint mobility, Alopecia totalis, Limited hip movement, Micrognathia, Severe failur... |
ORPHA:740 |
| Centrifugal Lipodystrophy |
|
Alopecia, Lymphadenitis, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Lack o... |
ORPHA:90156 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Umbilical hernia, Micrognathia,... |
ORPHA:2789 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
| Chanarin-Dorfman Syndrome |
|
Alopecia, Congenital nonbullous ichthyosiform erythroderma, Ataxia |
OMIM:275630 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Palmoplantar keratoderma, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Mult... |
OMIM:618373 |
| Reactive Arthritis |
|
Respiratory insufficiency, Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Dystrophic... |
ORPHA:29207 |
| Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Intrauterine growth retardation,... |
ORPHA:1556 |
| Neurofibromatosis Type 1 |
|
Hypopigmented skin patches, Genu valgum, Cryptorchidism, Multiple lipomas, Ataxia, Leukemia, Genu... |
ORPHA:636 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Generalized lipodystrophy, Intrauterine growth retardation, Melanocytic nevus, Absence of subcuta... |
OMIM:616914 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Type I diabetes mellitus, Premature graying of hair, Emphysema, Lymphopenia, Nail dys... |
OMIM:620365 |
| Dubowitz Syndrome |
|
Hypocholesterolemia, Acute lymphoblastic leukemia, Aplastic anemia |
OMIM:223370 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Orthokerat... |
OMIM:257980 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Respiratory insufficiency, Intrauterine growth retardation, Low anterior hairl... |
OMIM:619909 |
| Alopecia Universalis |
|
Alopecia universalis, Type I diabetes mellitus, Vitiligo, Abnormality of the thyroid gland, Absen... |
ORPHA:701 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Death in early adulthood, Cachexia, Areflexia of lower limbs, Weight loss |
OMIM:603041 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Res... |
OMIM:620296 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Abnormal form of the vertebral bodies, Bilateral cryptorchidism, Flexion contracture, Osteolysis,... |
ORPHA:3042 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... |
OMIM:143880 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal vertebral morphology, Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Micr... |
OMIM:600383 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad thumb, Hypoglycemia, Umbilical hernia, Micrognathia, Talipes equinovarus, Small for gestati... |
OMIM:614501 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Absent Achilles reflex, Pes cavus, Ankle clonus, Flexion contracture, Scoliosi... |
OMIM:609541 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Alopecia, Ketonuria, Organic aciduria, Failure to thrive, Hypoglycemia |
OMIM:210210 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the lower limb, Generalized lymphadenopathy, Weight los... |
ORPHA:33276 |
| Pseudomyxoma Peritonei |
|
Hernia, Weight loss, Lymphadenopathy, Respiratory insufficiency |
ORPHA:26790 |
| Chronic Graft Versus Host Disease |
|
Thickened skin, Alopecia, Urinary bladder inflammation, Fasciitis, Pancytopenia, Pleural effusion... |
ORPHA:99921 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Premature adrenarche, Frontal balding, Weight loss, Renal salt wasting, Neonatal hypoglycemia, Ab... |
ORPHA:90794 |
| Immunodeficiency 59 And Hypoglycemia |
|
Slender finger, High anterior hairline, Recurrent upper respiratory tract infections, Hypoglycemi... |
OMIM:233600 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory insufficiency, Gait imbalance, Death in childhood, Ankle clonus, Ataxia, Truncal atax... |
OMIM:211530 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Premature adrenarche, Cryptorchidism, Pes planus, Thoracolumbar scoliosis, Hydroureter, Tip-toe g... |
OMIM:620450 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Organic aciduria, Sideroblastic anemia, Intrauterine growth retardation, Pap... |
OMIM:301310 |
| Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Hypoglycemia, Hypoph... |
OMIM:276700 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Recurrent upper respiratory tract infections, Type I diabetes mellitus, Functional ab... |
ORPHA:391487 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Hypospadias, Multicystic kidney dysplasia, Hydroureter, Abnormal form ... |
ORPHA:2461 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Failure to thrive, Dicarboxylic aciduria, Fasting hyperinsulinemia, Intra... |
ORPHA:71212 |
| Sarcoidosis, Susceptibility To, 2 |
|
Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pulmonary infiltrates, Pn... |
OMIM:612387 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Failure to thrive, Emp... |
OMIM:242700 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... |
ORPHA:85170 |
| Charge Syndrome |
|
Lymphopenia, Micrognathia, Cryptorchidism, Absent radius, Bilateral talipes equinovarus, Hypopara... |
OMIM:214800 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hypoglycemia |
OMIM:261750 |
| Orthostatic Hypotension 1 |
|
Joint hypermobility, Brachydactyly, Nocturia, Neonatal hypoglycemia, Reduced circulating prolacti... |
OMIM:223360 |
| Ring Chromosome 13 Syndrome |
|
Alopecia, Aplasia/hypoplasia involving bones of the hand, Micrognathia, Primary hypothyroidism, A... |
ORPHA:96176 |
| Long-Olsen-Distelmaier Syndrome |
|
Hypoglycemia, Failure to thrive, Death in childhood |
OMIM:620609 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Oligosacchariduria, Failure to thrive, Respiratory insufficiency, Respiratory tract infection, Re... |
ORPHA:308552 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hypertrichosis, Increased urinary cortisol level, Hyperaldo... |
ORPHA:1501 |
| Wrinkly Skin Syndrome |
|
Cryptorchidism, Talipes equinovarus, Pes planus, Sparse hair, Osteopenia, Inguinal hernia, Short ... |
OMIM:278250 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the mandible, Finger syndactyly, Micromeli... |
ORPHA:2753 |
| Isaacs Syndrome |
|
Weight loss, Calf muscle hypertrophy |
ORPHA:84142 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Anuria, Decreased glomerular fi... |
ORPHA:340 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
| Waardenburg-Shah Syndrome |
|
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi... |
ORPHA:897 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Cog8-Cdg |
|
Failure to thrive, Hypoglycemia, Ataxia |
ORPHA:95428 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Palmoplantar keratoderma, Failure to thrive, Orthokeratosis, Hypergranulosis, Acantholysis, Ichth... |
OMIM:615508 |
| Steinert Myotonic Dystrophy |
|
Hyperinsulinemia, Talipes equinovarus, Secondary hyperparathyroidism, Alopecia, Cholelithiasis, F... |
ORPHA:273 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ichthyosis, Dysmetria, Parakeratosis, Neurogenic bladder, Acanthosis nigricans, Ataxia, Hyperkera... |
OMIM:618527 |
| Huntington Disease |
|
Decreased body mass index, Difficulty walking, Inability to walk, Gait imbalance, Gait disturbanc... |
ORPHA:399 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... |
OMIM:145250 |
| Duane Retraction Syndrome |
|
Irregular hyperpigmentation, Abnormal form of the vertebral bodies, Hypopigmented skin patches, P... |
ORPHA:233 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Clinodactyly, Radial deviation of finger, Umbilical hernia, HbH hemoglobin, Cryptorc... |
OMIM:301040 |
| Glutaric Acidemia I |
|
Glutaric aciduria, Ketonuria, Failure to thrive, Hypoglycemia, Choreoathetosis |
OMIM:231670 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ... |
ORPHA:3453 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, Lung abscess, B lymphocytopenia |
OMIM:241600 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Recurrent pneumonia, Inguinal hernia, 2-3 toe syndactyly, Hydronephrosis, Sparse hai... |
OMIM:616449 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Finger swelling, Osteomalacia, Genu valgum, Cryptorchidism, Proxim... |
OMIM:309000 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Alopecia, Irregular hyperpigmentation, Abnormal fingernail morphology, Hypercal... |
ORPHA:428 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Pleural effusion, Pulmonary edema, Decreased urine output, Respiratory failure |
ORPHA:542323 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Premature adrenarche, Increased urinary 11-deoxycorticosterone level, Alopecia, Long penis, Preco... |
ORPHA:90795 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Follicular hyperkeratosis, Patent ductus arteriosus |
OMIM:615147 |
| Truncus Arteriosus |
|
Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung... |
ORPHA:3384 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Osteopenia, Foot joint contracture, Urinary bladder sphincter dysfunction... |
ORPHA:79408 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Micromelia, Death in early adulthood, Femoral retroversion, Scoliosis, Kyph... |
ORPHA:79107 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypoglycemia, Dicarboxylic aciduria, Death in childhood, Death in infancy, Thrombocytopenia |
OMIM:611126 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating cortisol level, Hypoglycemia, Increased circulating ACTH level, Increased c... |
OMIM:615962 |
| Poliomyelitis |
|
Inability to walk, Stiff neck, Absent tonsils, Respiratory failure, Respiratory failure requiring... |
ORPHA:2912 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Splenomegaly, Encephalocele, Short ribs, Renal cyst, Ataxia, Respiratory... |
OMIM:615636 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Hyperkeratosis |
OMIM:607936 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid g... |
ORPHA:99867 |
| Trisomy 9P |
|
Hypoplastic fingernail, Fingernail dysplasia, Hypoplastic toenails, Short neck, Brachydactyly, Cl... |
ORPHA:236 |
| Naxos Disease |
|
Subungual hyperkeratosis, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Nail dystro... |
OMIM:601214 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Ketotic hypoglycemia |
ORPHA:2089 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Failure to thrive in infancy, Lymphopenia, Hepatosplenomegaly, Impai... |
ORPHA:35078 |
| Polymyositis |
|
Chondrocalcinosis, Respiratory insufficiency, Gait disturbance, Weight loss, Arthritis, Abnormal ... |
ORPHA:732 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Aplastic clavicle, Coronal craniosynostosis, Porokeratosis, Abnormal dental enamel morphology, Mi... |
ORPHA:85199 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, High anterior hairline, Broad distal phalanx of finger, Hydroureter, S... |
OMIM:619194 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Long foot, Slender build, Scoliosis, Kyphosis |
OMIM:300676 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cervical myelopathy, Myelopathy, Death in childhood, Ataxia, Respiratory failure |
OMIM:617186 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia, Failure to thrive, 3-hyd... |
OMIM:210200 |
| Aneurysm-Osteoarthritis Syndrome |
|
Atypical scarring of skin, Camptodactyly of finger, Umbilical hernia, Spondylolisthesis, Interver... |
ORPHA:284984 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypoglycemia |
OMIM:306000 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Leukonychia, Hyperkeratosis |
OMIM:617525 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Frontonasal Dysplasia 2 |
|
Sparse eyebrow, Fine hair, Bilateral cryptorchidism, Alopecia totalis, Intrauterine growth retard... |
OMIM:613451 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Failure to thrive, Hypopigmented skin patches, Abnormal dental enamel ... |
ORPHA:2556 |
| Loeys-Dietz Syndrome 3 |
|
Intervertebral disk degeneration, Arachnodactyly, Talipes equinovarus, Knee osteoarthritis, Pes p... |
OMIM:613795 |
| Absence Of The Pulmonary Artery |
|
Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio... |
ORPHA:980 |
| Sarcoidosis, Susceptibility To, 1 |
|
Mediastinal lymphadenopathy, Enlarged lacrimal glands, Abnormal salivary gland morphology, Emphys... |
OMIM:181000 |
| Cerebrocostomandibular Syndrome |
|
Posterior rib gap, Multicystic kidney dysplasia, Hydranencephaly, Neonatal respiratory distress, ... |
ORPHA:1393 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss, Neoplasm of the thyroid gland, Adducted thumb |
ORPHA:388 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure, Failure to thrive |
ORPHA:444013 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Yellow nails, Sparse lateral eyebrow, Ridged nail, Nail dystrophy, Onycholysis, Enamel ... |
OMIM:614564 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased urine alpha-ketoglutarate concentration, Ketonuria, Hypoglycemia, Dicarboxylic aciduria... |
OMIM:619355 |
| Thrombocytopenia 6 |
|
Osteoporosis, Myelofibrosis, Thrombocytopenia |
OMIM:616937 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Ketonuria, Failure to thrive, Hypoglycemia |
OMIM:615453 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Prominent fingertip pads, Overlapping toe, Bilateral camptodactyly, Short fourth metatarsal, Hip ... |
OMIM:619557 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Broad distal phalanx of finger, Broad thumb, Patchy alopecia, Hypothyroidism, Brachydactyly, Spar... |
OMIM:617763 |
| Nocardiosis |
|
Pneumonia, Cellulitis, Lymphadenitis, Emphysema, Osteomyelitis, Pleural effusion, Abnormality of ... |
ORPHA:31204 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Failure to thrive, Decreased testicular size, Intrauterine growth retardation, Nail dys... |
OMIM:620040 |
| Mend Syndrome |
|
Microretrognathia, Broad hallux, Failure to thrive, Overlapping toe, Micrognathia, Overlapping fi... |
OMIM:300960 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Alopecia, Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased r... |
ORPHA:3464 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Overlapping toe, Reduced bone mineral density, Cryptorchidism, Loss of ambula... |
OMIM:616682 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hypoglycemia |
ORPHA:364 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Ataxia, Hypoglycemia, Difficulty walking, Gait ataxia, Lacticaciduria, Respiratory failure requir... |
OMIM:620451 |
| Brucellosis |
|
Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephritis, Osteom... |
ORPHA:1304 |
| Immunodeficiency 31C |
|
Osteopenia, Recurrent respiratory infections, Lymphopenia, Osteomyelitis, Autoimmune hemolytic an... |
OMIM:614162 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypoglycemia, Death in infancy, Neonatal death, Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Fine hair, Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenail... |
ORPHA:1028 |
| Multiple Myeloma |
|
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Pleural effusion, Splenomegaly... |
ORPHA:29073 |
| Eosinophilic Fasciitis |
|
Cellulitis, Abnormal eosinophil morphology, Fasciitis, Eosinophilia, Weight loss, Arthritis |
ORPHA:3165 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi... |
ORPHA:79644 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyebrow, Palmoplantar keratoderma, Nail dystrophy, Sparse eyelashes, Dystrophic fingernail... |
OMIM:308800 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Numerous pigmented freckles, Ataxia |
ORPHA:220295 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Short 5th toe, Cryptorchidism, Chordee, Ataxia, Hypospadias, Posterior pituitar... |
ORPHA:268261 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Follicular... |
OMIM:613102 |
| Viss Syndrome |
|
Micrognathia, Genu valgum, Contracture of the proximal interphalangeal joint of the 2nd toe, Arac... |
OMIM:619472 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Splenomegaly, Parakeratosis, Hyperkeratosis, Neutropenia, Thromboc... |
ORPHA:398124 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Obesity, Adrenal insufficiency, Decreased ... |
OMIM:609734 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Nail dystrophy, Anonychia, Enamel hypoplasia, Hyperkeratosis |
OMIM:616029 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Palmoplantar keratoderma, Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashe... |
OMIM:106260 |
| Hermansky-Pudlak Syndrome 3 |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal number of dense granules |
OMIM:614072 |
| Angelman Syndrome Due To A Point Mutation |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Obesity, Gait imbalance, A... |
ORPHA:411511 |
| Cystic Fibrosis |
|
Osteopenia, Decreased body mass index, Failure to thrive, Nephrolithiasis, Pneumothorax, Osteopor... |
ORPHA:586 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Interstitial pneumonitis, Leukocytosis, Splenomegaly, Proteinuria, G... |
ORPHA:829 |
| Dermatomyositis |
|
Cellulitis, Alopecia, Chondrocalcinosis, Abnormal eosinophil morphology, Respiratory insufficienc... |
ORPHA:221 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia, B lymphocytopenia |
OMIM:620133 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... |
ORPHA:137675 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Interstitial emphysema, Lymphopenia, Overlapping fingers, Micrognathia, Knee flex... |
OMIM:619708 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pneumothorax, Weight loss, Lymphadenopathy, Bronchiectasis, Pulmonary opacity |
ORPHA:411703 |
| Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Pancytopenia, Neutropenia, Th... |
OMIM:251110 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Gait ataxia, Myoglobinuria, Gait disturbance, Hypothyroidism, Premature ... |
OMIM:616878 |
| Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Normochromic microcytic anemia, Intrauterine growth retardation, 3-Meth... |
ORPHA:66634 |
| Glucocorticoid Deficiency 2 |
|
Recurrent pneumonia, Hypoglycemia, Recurrent hypoglycemia, Bilateral cryptorchidism, Increased ci... |
OMIM:607398 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal rigidity, Respiratory insufficiency, Kyphosis, Hypergonadotropic hypogonadism, Neuropathic... |
OMIM:615084 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Small cell lung carcinoma, Small nail, Cryptorchidism, Hip contrac... |
ORPHA:821 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Fine hair, Abnormal fingernail morphology, Abnormality of skin pigmentation, Recurrent respirator... |
ORPHA:1806 |
| Graves Disease |
|
Graves disease, Goiter, Increased circulating free T3, Onycholysis, Weight loss, Increased circul... |
OMIM:275000 |
| Systemic Capillary Leak Syndrome |
|
Oliguria, Cardiorespiratory arrest, Renal insufficiency, Pleural effusion, Leukocytosis, Pulmonar... |
ORPHA:188 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Ankle flexion contracture, Cervical spinal canal stenosis, Hip contracture, Knee flexion contract... |
OMIM:620232 |
| Orthostatic Hypotension 2 |
|
Anemia, Decreased glomerular filtration rate, Hypoglycemia |
OMIM:618182 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Capillary leak, Internal hemorrhage, Bradycardia,... |
ORPHA:99826 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Macrodactyly, 2-4 toe syndactyly, Hyperparakeratosis, Abnormality of the lymphatic system, Multip... |
ORPHA:276280 |
| Marfanoid Habitus With Situs Inversus |
|
Genu recurvatum, Arachnodactyly, Scoliosis, Kyphosis, Hyperextensibility of the finger joints |
OMIM:609008 |
| Maple Syrup Urine Disease, Type Ia |
|
Hypoglycemia, Increased level of hippuric acid in urine, Positive 2,4-dinitrophenylhydrazine urin... |
OMIM:248600 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Kyphosis, Cervical ribs |
ORPHA:77300 |
| Acrodermatitis Enteropathica |
|
Alopecia, Ridged fingernail, Failure to thrive, Abnormal eyebrow morphology, Ridged nail, Weight ... |
ORPHA:37 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Pancre... |
ORPHA:99885 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Rickets, Osteomalacia, Iron deficiency anemia, Weight loss, Osteoporosis |
ORPHA:309031 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Ketonuria, Elevated urinary 3-methylcrotonylglycine... |
OMIM:246450 |
| Central Diabetes Insipidus |
|
Weight loss, Failure to thrive, Diabetes insipidus, Nocturia |
ORPHA:178029 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Tricuspid regurgitation, Mitral valve prolapse, Dysplastic tricuspid valve, Persistent fetal circ... |
OMIM:612863 |
| Cardiofacioneurodevelopmental Syndrome |
|
Aplasia/Hypoplasia of the nails, Micrognathia, Cryptorchidism, Brachydactyly, Camptodactyly, Clin... |
OMIM:619123 |
| Hypoadrenocorticism, Familial |
|
Abnormality of skin pigmentation, Adrenal insufficiency, Adrenal hypoplasia, Hypoglycemia |
OMIM:240200 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Respiratory insufficiency, Intrauterine growth retardation, Death in childhood, Death in infancy,... |
OMIM:610505 |
| Rheumatoid Arthritis |
|
Rheumatoid arthritis, Joint stiffness, Interphalangeal joint erosions, Weight loss, Swan neck-lik... |
OMIM:180300 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Failure to thrive, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Brittle ha... |
OMIM:124000 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Pituitary adenoma, Ungual fibroma, Pheochromocytoma, Stage 5 chronic kidn... |
ORPHA:805 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Alopecia, Absent eyelashes, Absent eyebrow, Hydrocele testis, Ab... |
OMIM:607823 |
| Chediak-Higashi Syndrome |
|
Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Hemophagocytosis, Ocular a... |
OMIM:214500 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure |
OMIM:619483 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Hepatosplenomegaly, Neutropenia, B lymphocytopenia |
OMIM:301081 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Freckling, ... |
ORPHA:79431 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ... |
OMIM:256700 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Large placenta, Congenital diaphragmatic hernia, Cryptorchidism, Neonatal hypoglycem... |
ORPHA:116 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Hypoglycemia |
OMIM:300559 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Cholelithiasis, Pathologic fracture, Hypersplenism, Interstitial pneumonitis, Splenom... |
ORPHA:77293 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Pleural effusion, Failure to thrive, Death in infancy |
OMIM:617049 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia |
ORPHA:97297 |
| Oculocutaneous Albinism Type 1 |
|
Iris hypopigmentation, Thickened skin, Generalized hypopigmentation of hair, White eyebrow, White... |
ORPHA:352731 |
| Attrv30M Amyloidosis |
|
Nephropathy, Weight loss, Abnormal renal physiology |
ORPHA:85447 |
| Yao Syndrome |
|
Weight loss, Pleuritis, Arthritis, Nephrolithiasis |
OMIM:617321 |
| Pseudopelade Of Brocq |
|
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... |
ORPHA:129 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pigmentary retinopathy, Ketonuria, Methylmalonic aciduria, Failure to thrive, Hypoglycemia, Intra... |
ORPHA:79282 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Reduced bone mineral density, Splenomegaly, Bowing of the long bon... |
ORPHA:667 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Ketonuria, Recurrent hypoglycemia, Leukopenia, Thrombocytosis, Leukocy... |
ORPHA:20 |
| Pmm2-Cdg |
|
Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Aplasia of... |
ORPHA:79318 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Exercise-induced myoglobinuria, Death in infancy, Respiratory arrest, Nonk... |
OMIM:201475 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hypoglycemia, Impaired gluconeogenesis, Ketonuria, Fasting hypoglycemia |
OMIM:261680 |
| Ramon Syndrome |
|
Pigmentary retinopathy, Hypertrichosis, Decreased body weight, Hyperkeratosis, Juvenile rheumatoi... |
OMIM:266270 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
| Neuroblastoma |
|
Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Pathologic fracture... |
ORPHA:635 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Highly arched eyebrow, Ketonuria, Failure to thrive, Hypoglycemia, Hyperglycemia, Micrognathia, I... |
OMIM:220111 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Pneumonia, Failure to thrive, Hypoglycemia, Hyperactive renin-angiotensin system, Abnormal circul... |
ORPHA:90790 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Small for gestational age, Sandal gap, Failure to thrive, Umbilical hernia, Em... |
OMIM:616835 |
| Takayasu Arteritis |
|
Anemia, Weight loss, Arthritis |
ORPHA:3287 |
| Leishmaniasis |
|
Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Lymphadenopa... |
ORPHA:507 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Increased mean corpuscular volume, Micrognathia, Cryptorchidism, Abnormal ... |
ORPHA:261250 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Ankle swelling, Acute monocytic leukemia, Oliguria, Central hypothyroidism, C... |
ORPHA:514 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Sparse eyebrow, Absent nipple, Small nail, Clinodactyly, Broad hallux, Branchial cyst, Intrauteri... |
OMIM:620186 |
| Acrokeratosis Verruciformis |
|
Ridged nail, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis |
OMIM:101900 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, B... |
ORPHA:500095 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Hypergranulosis, Abnormality of the lower limb, Palmoplant... |
ORPHA:38 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Inability to walk, Absent Achilles reflex, Multiple joint contractures, Hyperlordosis, Scoliosis,... |
OMIM:128100 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Osteomyelitis, Abnormal circ... |
ORPHA:171876 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Generalized ichthyosis, Hyperkeratosis, ... |
OMIM:612281 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Kyphosis, Knee flexion contracture, Thoracic scoliosis |
OMIM:603387 |
| Mercury Poisoning |
|
Acute kidney injury, Interstitial pneumonitis, Respiratory failure |
ORPHA:330021 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Orthokeratosis, Sparse lateral eyebrow, Trichorrhexis nodosa, Nail dyst... |
OMIM:617337 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Hypoglycemia, Decreased testicular size, Hypogo... |
OMIM:616113 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Failure to thrive, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Palmoplantar hyp... |
OMIM:617388 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Difficulty walking, Positional foot deformity, Intrauterine growth retardation, Dysmetria, Thromb... |
ORPHA:572798 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Spontaneous pneumothorax, Recurrent pneumonia, Acute kidney injury, Oliguria, Hepatosplenomegaly,... |
ORPHA:731 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
Cholelithiasis, Ketotic hypoglycemia, Failure to thrive, Dicarboxylic aciduria |
OMIM:620646 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Sparse eyebrow, Long foot, Large for gestational age, Gait ataxia, Joint hypermobility, Arachnoda... |
OMIM:617011 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Talipes equinovarus, Multiple lipomas, Lipodystrophy, Kyphosis |
OMIM:151800 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Finger syndactyly, Micrognathia, Down-sloping shoulders, Joint hypermobili... |
ORPHA:1974 |
| Ermine Phenotype |
|
Iris hypopigmentation, Toe syndactyly, Irregular hyperpigmentation, Hypopigmented skin patches, O... |
ORPHA:999 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Hypoglycemia |
ORPHA:156 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Unilateral renal agenesis, Reduced natural killer cell count, Recurrent urinary tract infections,... |
ORPHA:221139 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Generalized aminoaciduria, Failure to thrive, Hypoglycemia, Splenomegaly, Thrombocytopenia |
OMIM:251880 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia |
OMIM:608688 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Abnormal hair morphology, Parakeratosis |
OMIM:618531 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Intrauterine growth retardation, Congenital diaphragmatic hernia, Maternal di... |
ORPHA:563609 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Intrauterine growth retardation, Hypoglycemia |
OMIM:618838 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular hypertrophy, Right ventricular dilatation |
OMIM:253700 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Micrognathia, Pes cavus, Pilomatrixoma, Multinodular goiter, Lipoma, Hyperkeratosis, Hammertoe |
OMIM:620189 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormal toenail morphology, H... |
ORPHA:1334 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Alopecia universalis, Recurrent pneumonia, Palmoplantar keratoderma, Failure to thrive, Difficult... |
ORPHA:158668 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Splenomegaly, Bile duct proliferation, Fasting hypoglycemia |
OMIM:613027 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Spotty hyperpigmentation, Parakeratosis, Generalized reticulate brown pigmentation, Hyperpigmenta... |
ORPHA:158681 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss, Diabetes mellitus |
ORPHA:90003 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Wide anterior fontanel, Increased RBC distribution width, Persistence of hemoglobin F, Hepatosple... |
OMIM:613673 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
| Cryptogenic Organizing Pneumonia |
|
Ground-glass opacification, Parenchymal consolidation, Leukocytosis, Pneumothorax, Weight loss, N... |
ORPHA:1302 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Pes cavus, Dysmetria, Ankle clonus, Gait disturbance, Ataxia, Urinary incontinence, Scoliosis, Ky... |
ORPHA:88644 |
| Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
| Castleman Disease |
|
Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Generalized lymphad... |
ORPHA:160 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis |
OMIM:173200 |
| Cowden Syndrome 5 |
|
Thyroid adenoma, Subcutaneous lipoma, Goiter, Micrognathia, Ovarian cyst, Hypothyroidism, Palmopl... |
OMIM:615108 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Difficulty walking, Ataxia, Abnormal granulocyte morphology, Congenital nonbullous icht... |
ORPHA:98907 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Pleural effusion,... |
ORPHA:50918 |
| Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
| Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, White hair, Ocular albinism,... |
ORPHA:79435 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Hypoglycemia, Compensated hypothyroidism, Ataxia, Hypoglycemic seizures |
ORPHA:480864 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Trichiasis, Sparse eyebrow, Clinodactyly, Radial deviation of finger, Thin eyebrow, Micrognathia,... |
OMIM:609944 |
| Yellow Fever |
|
Shock, Reduced left ventricular ejection fraction, Bradycardia, Hematemesis, Internal hemorrhage,... |
ORPHA:99829 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Gait ataxia, Kyphosis |
ORPHA:500180 |
| Milroy Disease |
|
Cellulitis, Toenail dysplasia, Ankle swelling, Hydrocele testis, Hyperkeratosis, Pedal edema |
ORPHA:79452 |
| Cowden Syndrome 1 |
|
Thyroid adenoma, Subcutaneous lipoma, Goiter, Lymphopenia, Micrognathia, Ovarian cyst, Ovarian ca... |
OMIM:158350 |
| Mend Syndrome |
|
Wide anterior fontanel, Broad hallux, Failure to thrive, Overlapping toe, Micrognathia, Overlappi... |
ORPHA:401973 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Thrombocytopenia, Increased mean platelet volume |
OMIM:617443 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia, Pulmonary insufficiency, R... |
OMIM:614437 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Hypopigmentation of the ... |
ORPHA:167 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hypogona... |
ORPHA:85450 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Nail dystrophy, Porokeratosis |
OMIM:175900 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Respiratory arrest, Hypoketotic hypoglycemia |
OMIM:600649 |
| Cholera |
|
Acute kidney injury, Hypoglycemia, Aspiration pneumonia, Palmoplantar cutis laxa, Decreased urine... |
ORPHA:173 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutr... |
ORPHA:508542 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Fasting hypoglycemia, Hypoglycemia, Neonatal hypoglycemia, Increased urinary glycerol |
ORPHA:348 |
| Limb-Mammary Syndrome |
|
Alopecia, Sparse eyebrow, Absent nipple, Toe syndactyly, Breast aplasia, Oligodactyly, Aplasia of... |
ORPHA:69085 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Sparse pubic hair, Broad thumb, Renal hypoplasia, Finger syndactyly, F... |
OMIM:181270 |
| Juvenile Dermatomyositis |
|
Alopecia, Limitation of joint mobility, Weight loss, Arthritis, Pulmonary fibrosis |
ORPHA:93672 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
| Multiple Endocrine Neoplasia, Type I |
|
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... |
OMIM:131100 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Nail dystrophy, Parakeratosis, Oligoarthritis, Neutrophilia |
OMIM:614204 |
| Perry Syndrome |
|
Short stepped shuffling gait, Respiratory insufficiency, Akinesia, Respiratory arrest, Weight loss |
OMIM:168605 |
| Systemic Lupus Erythematosus |
|
Alopecia, Leukopenia, Hematuria, Proteinuria, Weight loss, Lupus nephritis, Lymphadenopathy, Thro... |
ORPHA:536 |
| Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Intrauterine growth retardation, Respiratory failure, Anomalous pulmon... |
ORPHA:555874 |
| Non-Functioning Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Weight loss, P... |
ORPHA:94080 |
| Acute Radiation Syndrome |
|
Hypopigmentation of the skin, Lymphopenia, Interstitial pneumonitis, Hyperpigmentation of the ski... |
ORPHA:454831 |
| Cowden Syndrome 6 |
|
Thyroid adenoma, Subcutaneous lipoma, Goiter, Micrognathia, Ovarian cyst, Hypothyroidism, Palmopl... |
OMIM:615109 |
| Biotinidase Deficiency |
|
Splenomegaly, Alopecia, Organic aciduria, Ataxia |
OMIM:253260 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Multiple bladder diverticula, Urethral... |
ORPHA:90349 |
| Focal Myositis |
|
Weight loss, Limitation of joint mobility |
ORPHA:48918 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Elevated urinary 7-hydroxyoctanoic acid level, Medium chain dicarboxylic aciduri... |
OMIM:201450 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Highly arched eyebrow, Unilateral renal agenesis, Short 1st metacarp... |
OMIM:620305 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Recurrent lower respiratory tract infections, Hyperkeratosis |
OMIM:136630 |
| Monosomy 9Q22.3 |
|
Plantar pits, Abnormality of the vertebral column, Umbilical hernia, Large for gestational age, P... |
ORPHA:77301 |
| Anaplastic Thyroid Carcinoma |
|
Goiter, Weight loss, Lymphadenopathy, Nodular goiter, Anaplastic thyroid carcinoma, Neoplasm of t... |
ORPHA:142 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hypoglycemia, Micrognathia, Hydronephrosis, Decreased serum insulin-like growth factor 1, Delayed... |
OMIM:614921 |
| Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:95613 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... |
OMIM:615067 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Abnormal dental enamel morphology, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Malignant Atrophic Papulosis |
|
Weight loss, Pleural effusion, Respiratory failure |
ORPHA:679 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Failure to thrive, Neutropenia, B lymphocytopenia |
OMIM:601495 |
| Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Bifid sternum, Coarse hair, Hyperconvex fingernails, Thick eyebrow, Inguin... |
OMIM:303600 |
| Autosomal Dominant Cutis Laxa |
|
Genu recurvatum, Unilateral renal agenesis, Peripheral pulmonary artery stenosis, Bronchiolitis, ... |
ORPHA:90348 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Dry hair, Hydroureter, Urinary retention, Premature ... |
ORPHA:90324 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Leukonychia, Onycholysis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acanth... |
OMIM:616295 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Small for gestational age, Failure to thrive, Death in childhood, Patent urachus, Respiratory fai... |
OMIM:618252 |
| Pyruvate Carboxylase Deficiency |
|
Ataxia, Tip-toe gait, Failure to thrive, Hypoglycemia, Hyperglycemia, Lacticaciduria |
ORPHA:3008 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Genu valgum, Decreased body weight, Hematuria, Talipes equinovarus, Ataxia, Hyp... |
OMIM:619475 |
| Vici Syndrome |
|
Hypopigmentation of the skin, Failure to thrive, Recurrent respiratory infections, Ocular albinis... |
OMIM:242840 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Failure to thrive, Thrombocytopenia, Dicarboxylic aciduria |
ORPHA:99901 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkera... |
OMIM:606545 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Cryptorchidism, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly ha... |
OMIM:619244 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Iris hypopigmentation, Broad-based gait, Hypopigmentation of the skin, Gait imbalance, Hypopigmen... |
ORPHA:98795 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Interstitial pneumonitis, Renal insufficiency, Pulmonary infiltrates, Eosinophilia, Lymphocytosis... |
ORPHA:139402 |
| Linear Nevus Sebaceus Syndrome |
|
Genu recurvatum, Alopecia, Irregular hyperpigmentation, Melanocytic nevus, Vertebral segmentation... |
ORPHA:2612 |
| Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Hyperkeratosis, Abnormality of the nail |
ORPHA:254478 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Failure to thrive, Osteomalacia, ... |
ORPHA:18 |
| Igg4-Related Aortitis |
|
Low back pain, Hypereosinophilia, Hydronephrosis, Weight loss |
ORPHA:449400 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis |
OMIM:613943 |
| Spinocerebellar Ataxia 34 |
|
Limb ataxia, Gait ataxia, Ataxia, Dysdiadochokinesis, Epidermal hyperkeratosis |
OMIM:133190 |
| Acute Promyelocytic Leukemia |
|
Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Weight loss, Lymp... |
ORPHA:520 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric a... |
OMIM:253270 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... |
ORPHA:786 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Abnormal T cell count, Recurrent urinary tract infections, Decreased response to growth hormone s... |
OMIM:307200 |
| Alkaptonuria |
|
Elevated urinary homogentisic acid, Limited hip movement, Decreased glomerular filtration rate, D... |
OMIM:203500 |
| Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia... |
OMIM:300755 |
| Neonatal Marfan Syndrome |
|
Neonatal respiratory distress, Emphysema, Decreased testicular size, Micrognathia, Joint hypermob... |
ORPHA:284979 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Multiple lipomas, Lipodystrophy, Abnormal eyelash morphology... |
ORPHA:2396 |
| Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation |
ORPHA:369847 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Respiratory failure, Hypochromic microcytic anemia |
ORPHA:3240 |
| Proprotein Convertase 1/3 Deficiency |
|
Elevated circulating proinsulin concentration, Obesity, Reactive hypoglycemia, Hypogonadotropic h... |
OMIM:600955 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of the skin, Ocular albinism, Melanocytic nevus, Freckles in sun-exposed areas, ... |
OMIM:203300 |
| Primary Biliary Cholangitis |
|
Osteoporosis, Abnormality of the thyroid gland, Splenomegaly, Hyperpigmentation of the skin |
ORPHA:186 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Abnormal circulating renin, Decreased c... |
OMIM:609197 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Dicarboxylic aciduria |
OMIM:605911 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Alopecia universalis, Pulmonary carcinoid tumor, Premature graying of hair, Emphysema, Abnormalit... |
ORPHA:363618 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Oliguria, Respiratory insufficiency, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Fasting hyp... |
ORPHA:159 |
| Nephroblastoma |
|
Hematuria, Weight loss, Lymphadenopathy, Neoplasm of the lung |
ORPHA:654 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Horseshoe kidney, Pancreatic cysts, Pyelonephritis, Vesicoureteral r... |
OMIM:301111 |
| De Sanctis-Cacchione Syndrome |
|
Bilateral coxa valga, Equinovarus deformity, Bilateral cryptorchidism, Parakeratosis, Scissor gai... |
OMIM:278800 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoalbuminemia, Hypocholesterolemia, Elevated circulating 7-dehydrocholesterol concentration, Sp... |
OMIM:270400 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Ankle clonus, Thrombocytopenia, Respiratory failure requiring assist... |
OMIM:620423 |
| Niemann-Pick Disease Type C |
|
Aspiration pneumonia, Respiratory insufficiency, Hepatosplenomegaly, Splenomegaly, Pulmonary infi... |
ORPHA:646 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Talipes equinovarus, Pulmonary bulla, Finger joint hypermobility, Diffuse alveola... |
OMIM:130050 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Patchy palmoplantar hyperkeratosis, Hypergranulosis, Generalized hyperkeratosis |
OMIM:133200 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Palmoplantar keratoderma, Small nail, Decreased testicular size, Nail dystrophy, Orthokeratotic h... |
OMIM:610644 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Hyperinsulinemia, Nocturia, An... |
ORPHA:230 |
| Leprosy |
|
Alopecia, Testicular mass, Sparse body hair, Autoamputation of digits, Abnormality of the spleen,... |
ORPHA:548 |
| Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hydronephrosis, Thrombocytopenia... |
OMIM:251260 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss, Diabetes insipidus |
ORPHA:30925 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy |
ORPHA:99868 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Recurrent upper respiratory tract infections, Hypoglycemia, C... |
OMIM:232240 |
| Atelis Syndrome 2 |
|
Clinodactyly, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, M... |
OMIM:620185 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Congenital nonbullous ichthyosiform erythroderma, Orthokeratosis, Hyperkeratosis, Hypergranulosis |
OMIM:615023 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Hypot... |
ORPHA:83471 |
| Pemphigus Vulgaris |
|
Acantholysis, Atypical scarring of skin, Weight loss, Alopecia of scalp |
ORPHA:704 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
High anterior hairline, Neonatal respiratory distress, Adrenal insufficiency, Ataxia, Hyperkeratosis |
OMIM:615510 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se... |
OMIM:241080 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Arthrogryposis multiplex congenita, Pes planus, Scoliosis, Kyphosis |
OMIM:617143 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Wei... |
ORPHA:1332 |
| African Trypanosomiasis |
|
Alopecia, Myelopathy, Difficulty walking, Akinesia, Hepatosplenomegaly, Renal insufficiency, Sple... |
ORPHA:3385 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Nail dystrophy, Onychogryposis |
OMIM:167200 |
| Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Short sternum, Postaxial hand polydactyly, Kyphosis, Hyperconvex nail |
OMIM:258850 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoglycemia, Intrauterine growth retardation, Death in infancy, 4-Hydroxyphen... |
OMIM:617156 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia |
OMIM:616483 |
| Colchicine Poisoning |
|
Alopecia, Oliguria, Cardiorespiratory arrest, Renal insufficiency, Leukocytosis |
ORPHA:31824 |
| Perlman Syndrome |
|
Renal hamartoma, Hypoglycemia, Large for gestational age, Micrognathia, Congenital diaphragmatic ... |
OMIM:267000 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Ectopic posterior pituitary, Hypoglycemia, Decreased circulating ACTH concentration, Posterior pi... |
OMIM:613986 |
| Q Fever |
|
Pneumonia, Osteomyelitis, Hepatosplenomegaly, Pleural effusion, Splenomegaly, Hematuria, Weight l... |
ORPHA:781 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Premature graying of hair, Ectopic thymus tissue, Micrognathia, White forel... |
OMIM:113620 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Obesity, Hypoketotic hypoglycemia, Overweight, Small for gestational age |
ORPHA:26793 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Abnormality of the nail, Hyperkeratosis, Ataxia |
ORPHA:28378 |
| Carney Complex, Type 1 |
|
Pituitary adenoma, Multiple lentigines, Pheochromocytoma, Thyroid carcinoma, Thyroid follicular h... |
OMIM:160980 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Alopecia, Primary adrenal insufficiency, Type II diabetes mellitus, Iron deficiency anem... |
OMIM:269200 |
| Simple Cryoglobulinemia |
|
Nephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria, Chronic lymphatic leukemia, Weig... |
ORPHA:91139 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Respiratory insufficiency, Leukocytosis, Splenomegaly, Weight loss,... |
ORPHA:729 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Myoglobinuria, Hypoketotic hypoglycemia, Dicarboxylic aciduria |
OMIM:231530 |
| Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Melanocytic nevus, Abnormali... |
ORPHA:79434 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Synostosis of the proximal phalanx of the thumb with the 1st metacarpal, Slender build, Cryptorch... |
OMIM:300967 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia, Ketonuria |
OMIM:616095 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Orthokeratosis, Hypergranulosis, Pancreatic aden... |
ORPHA:79501 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
| Biotinidase Deficiency |
|
Alopecia, Myelopathy, Organic aciduria, Ataxia |
ORPHA:79241 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... |
ORPHA:35858 |
| Meige Disease |
|
Cellulitis, Atypical scarring of skin, Absence of lymph node germinal center, Cobblestone-like hy... |
ORPHA:90186 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Weight loss, A... |
ORPHA:54251 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Familial Colorectal Cancer Type X |
|
Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the thyroid gland, Gait disturbance, We... |
ORPHA:440437 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Palmoplantar keratoderma, Acanthocytosis, Parakeratosis, Congenital nonbullous ic... |
OMIM:604777 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, A... |
ORPHA:276621 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Elevated urinary 3-hydr... |
OMIM:615751 |
| Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Ridged nail |
ORPHA:83453 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Abnormality of the plantar skin of foot, Increased body weight, Parakeratosis |
ORPHA:64745 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:620148 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Retinal pigment epithelial mottling, Respiratory insufficiency, Absent Achilles... |
OMIM:607459 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Weight loss, Intraalveolar phospholipid accumulation, Clubbing |
ORPHA:747 |
| Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Myelomeningocele, Abnormal eyebrow morphol... |
ORPHA:3440 |
| Psoriasis 2 |
|
Parakeratosis, Hyperkeratosis |
OMIM:602723 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the skin, Gait disturbanc... |
ORPHA:3214 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Respiratory insufficiency, Pulmonary infiltrates, Localized pulmonar... |
OMIM:608710 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Parakeratosis, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
| Polyarteritis Nodosa |
|
Abnormal lung morphology, Weight loss, Pleuritis |
ORPHA:767 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Lymphadenitis, Urethritis, Hematuria, Abnormality of the anterior pituita... |
ORPHA:449395 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Increased urinary glycerol |
OMIM:229700 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Increased ci... |
OMIM:300942 |
| Al Amyloidosis |
|
Howell-Jolly bodies, Nephrotic syndrome, Renal insufficiency, Proteinuria, Weight loss, Anemia, A... |
ORPHA:85443 |
| Bronchial Neuroendocrine Tumor |
|
Pneumonia, Increased serum serotonin, Increased circulating cortisol level, Increased circulating... |
ORPHA:97287 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
| Aicardi-Goutieres Syndrome 7 |
|
Pneumonia, Nephrotic syndrome, Intrauterine growth retardation, Pancytopenia, Splenomegaly, Gener... |
OMIM:615846 |
| Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria, Fasting hypoglycemia, Ataxia, Athetosis |
ORPHA:25 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Decreased thyroid-stimulating hormone level, Weight loss, Increased circulating free T4 c... |
OMIM:613239 |
| Vascular Ehlers-Danlos Syndrome |
|
Cryptorchidism, Talipes equinovarus, Hypospadias, Alopecia, Pulmonary artery aneurysm, Respirator... |
ORPHA:286 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Alström Syndrome |
|
Chronic kidney disease, Testicular fibrosis, Frontal balding, Decreased circulating T4 concentrat... |
ORPHA:64 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Stevens-Johnson Syndrome |
|
Abnormality of the urethra, Abnormality of neutrophils, Acantholysis, Abnormal pleura morphology,... |
ORPHA:36426 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal hypoplasia,... |
OMIM:201400 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... |
ORPHA:913 |
| Renal Agenesis, Bilateral |
|
Sirenomelia, Abnormal sacrum morphology, Nonketotic hypoglycemia, Pulmonary hypoplasia |
ORPHA:1848 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Diabetes insipidus, Respiratory insufficiency, Pleuritis, Renal insufficiency,... |
ORPHA:900 |
| Congenital Isolated Acth Deficiency |
|
Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortisol level, Adrena... |
ORPHA:199296 |
| Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Ketonuria, Renal tubular acidosis, Dicarboxylic aciduria |
OMIM:255120 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine, Hypoketotic hypoglycemia |
ORPHA:228305 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hypopigmented skin patches, Premature graying of hair, Hypogonadism, Abnormal eyebrow morphology,... |
ORPHA:163746 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Weight loss |
ORPHA:65682 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Primary Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Pleural effusion, Abnormal lymphatic vessel morphology,... |
ORPHA:90362 |
| Toxic Epidermal Necrolysis |
|
Abnormality of the urethra, Acantholysis, Abnormal pleura morphology, Renal insufficiency, Weight... |
ORPHA:537 |
| Behçet Disease |
|
Pleural effusion, Renal insufficiency, Splenomegaly, Pulmonary infiltrates, Orchitis, Gait distur... |
ORPHA:117 |
| Norrie Disease |
|
Failure to thrive, Cryptorchidism, Cachexia, Delayed puberty, Scoliosis, Diabetes mellitus |
ORPHA:649 |
| Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
| Bickerstaff Brainstem Encephalitis |
|
Pneumonia, Respiratory tract infection, Ataxia, Respiratory failure, Respiratory failure requirin... |
ORPHA:79138 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Follicular h... |
OMIM:619381 |
| Keutel Syndrome |
|
Short distal phalanx of finger, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis... |
OMIM:245150 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Toe syndactyly, Small nail, Supernumerary nipple, Encephalocele, Pulmonary artery steno... |
OMIM:100300 |
| Holt-Oram Syndrome |
|
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... |
OMIM:142900 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, A... |
ORPHA:29072 |
| Fatal Familial Insomnia |
|
Weight loss, Urinary retention, Ataxia |
OMIM:600072 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Grfoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, Su... |
ORPHA:97261 |
| Vipoma |
|
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... |
ORPHA:97282 |
| Bullous Pemphigoid |
|
Weight loss, Diabetes mellitus |
ORPHA:703 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Precocious puberty, Abnormal thoracic spine morphology, Back pain, Weight loss, Anemia, Ovarian n... |
ORPHA:370348 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss |
ORPHA:35710 |
| Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive, Arthritis |
ORPHA:92050 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Failure to thrive, Aspiration pneumonia, Stage 5 chronic kid... |
ORPHA:1018 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Weight loss, Hemophagocytosis |
ORPHA:86884 |
| Rat-Bite Fever |
|
Septic arthritis, Lymphadenitis, Parotitis, Weight loss, Oligoarthritis, Arthritis, Anemia, Back ... |
ORPHA:31205 |
| Eosinophilic Gastroenteritis |
|
Anemia, Eosinophilia, Weight loss, Leukocytosis |
ORPHA:2070 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Hip osteoarthritis, Sacroiliac arthritis, Back pain, Oligoarthritis, Enthesitis, Kyphosis |
OMIM:106300 |
| Aspartylglucosaminuria |
|
Platyspondyly, Spondylolysis, Pathologic fracture, Aspartylglucosaminuria, Spondylolisthesis, Joi... |
OMIM:208400 |
| Lynch Syndrome |
|
Pituitary adenoma, Pancreatic adenocarcinoma, Death in early adulthood, Neoplasm of the thyroid g... |
ORPHA:144 |
| Secondary Short Bowel Syndrome |
|
Weight loss, Central hypothyroidism, Failure to thrive, Primary hypothyroidism |
ORPHA:95427 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Increased serum serotonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Weight... |
ORPHA:100085 |
| Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Weight loss, Splenomegaly |
ORPHA:33577 |
| Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
| Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Weight loss, Lymphadenopathy, D... |
ORPHA:1333 |
| Postencephalitic Parkinsonism |
|
Camptocormia, Akinesia, Kyphosis |
ORPHA:97349 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss, Pedal edema |
ORPHA:168811 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Inguinal hernia, Scoliosis, Kyphosis |
ORPHA:261190 |
| Goodpasture Syndrome |
|
Reticular pattern on pulmonary HRCT, Erythrocyte cylindruria, Ground-glass opacification, Pulmona... |
OMIM:233450 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Enuresis nocturna, Dysdiadochokinesis, Difficulty walking, Positional foot deformity, Dysmetria, ... |
ORPHA:171629 |
| Lymphedema-Distichiasis Syndrome |
|
Cellulitis, Yellow nails, Chylothorax, Micrognathia, Distichiasis, Patent ductus arteriosus, Kyph... |
OMIM:153400 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Right ventricular fail... |
ORPHA:99125 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure to thrive, Hypoglycemia, Hyper... |
OMIM:229600 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Pleural effusion, Leukocytosis, Weight loss, Lung abscess, Anemia, Pleural empyema |
ORPHA:67 |
| Neuroendocrine Tumor Of The Colon |
|
Increased serum serotonin, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tu... |
ORPHA:100080 |
| Rett Syndrome, Congenital Variant |
|
Talipes equinovarus, Pes planus, Athetosis, Scoliosis, Kyphosis |
OMIM:613454 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Kyphosis |
ORPHA:261144 |
| Somatostatinoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97283 |
| Alg9-Cdg |
|
Tricuspid regurgitation, Abnormal heart morphology, Ventricular septal defect, Atrial septal defe... |
ORPHA:79328 |
| Caroli Disease |
|
Cholelithiasis, Leukocytosis, Splenomegaly, Weight loss, Polycystic kidney dysplasia |
ORPHA:53035 |
| Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Wrist flexion contracture, Osteolytic defec... |
OMIM:618175 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Orthokeratosis |
OMIM:618084 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Adrenocortical cytomegaly, Renal cortical cysts, Vesico... |
OMIM:130650 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Graves disease, Urinary retention, Obesity, Decreased urinary potassi... |
ORPHA:79102 |
| Gerstmann-Straussler Disease |
|
Truncal ataxia, Limb ataxia, Gait ataxia, Weight loss |
OMIM:137440 |
| Postinfectious Vasculitis |
|
Pneumonia, Orchitis, Hematuria, Proteinuria, Weight loss, Glomerulonephritis, Membranoproliferati... |
ORPHA:48435 |
| Neuroendocrine Tumor Of The Rectum |
|
Increased serum serotonin, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tu... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Increased serum serotonin, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tu... |
ORPHA:100082 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
| Hereditary Late-Onset Parkinson Disease |
|
Shuffling gait, Weight loss, Spastic/hyperactive bladder, Akinesia |
ORPHA:411602 |
| Ménétrier Disease |
|
Weight loss, Hypochromic microcytic anemia |
ORPHA:2494 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis, ... |
ORPHA:71493 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Glucagonoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97280 |
| Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis |
ORPHA:163525 |
| Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of... |
OMIM:203100 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Pollakisuria, Diabetes insipidus |
ORPHA:95626 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:424 |
| Ppoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97278 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Pulmonary infiltrates, Weight loss, Lymphadenopathy, Anemia, Re... |
ORPHA:52417 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Pachyonychia Congenita 3 |
|
Palmoplantar keratoderma, Onychogryposis of toenails, Nail dystrophy, Follicular hyperkeratosis, ... |
OMIM:615726 |
| Neuroendocrine Tumor Of Stomach |
|
Increased serum serotonin, Increased circulating ACTH level, Chronic noninfectious lymphadenopath... |
ORPHA:100075 |
| Budd-Chiari Syndrome |
|
Weight loss, Splenomegaly |
ORPHA:131 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Iron deficiency anemia... |
OMIM:301074 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
| Acute Liver Failure |
|
Acute kidney injury, Hypoglycemia, Adrenal insufficiency, Thrombocytopenia, Ataxia |
ORPHA:90062 |
| Shprintzen Omphalocele Syndrome |
|
Neonatal respiratory distress, Lumbar hyperlordosis, Decreased body weight, Omphalocele, Scoliosi... |
OMIM:182210 |
| Ileal Neuroendocrine Tumor |
|
Increased serum serotonin, Hydronephrosis, Iron deficiency anemia, Weight loss, Lymphadenopathy, ... |
ORPHA:100078 |
| Hereditary Fructose Intolerance |
|
Chronic kidney disease, Renal insufficiency, Reactive hypoglycemia |
ORPHA:469 |
| Renal Nutcracker Syndrome |
|
Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Anemia, Microscopic hematuria |
ORPHA:71273 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Adenoma sebaceum |
ORPHA:493 |
| Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:99819 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Kyphosis |
OMIM:177850 |
| Choreoacanthocytosis |
|
Peroneal muscle atrophy, Falls, Equinovarus deformity, Absent Achilles reflex, Acanthocytosis, Sp... |
ORPHA:2388 |
| Oculopharyngodistal Myopathy 1 |
|
Difficulty walking, Weight loss, Respiratory insufficiency due to muscle weakness, Ataxia |
OMIM:164310 |
| Behcet Syndrome |
|
Patchy alopecia, Arthritis, Decreased level of D-mannose in urine |
OMIM:109650 |
| Tropical Pancreatitis |
|
Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Pancreatic calcifica... |
ORPHA:103918 |
| Sympathetic Ophthalmia |
|
Alopecia, Vitiligo, Poliosis |
ORPHA:79098 |
| Klatskin Tumor |
|
Weight loss, Lymphadenopathy |
ORPHA:99978 |
| Pyomyositis |
|
Testicular teratoma, Weight loss, Renal insufficiency, Leukocytosis |
ORPHA:764 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ... |
ORPHA:79078 |
| Kanzaki Disease |
|
Aminoaciduria, Increased urinary O-linked sialopeptides, Hyperkeratosis |
OMIM:609242 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm |
ORPHA:100086 |
| Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma |
ORPHA:97286 |
| Pancreatoblastoma |
|
Pancreatic calcification, Weight loss, Abnormal lymph node morphology |
ORPHA:677 |
| Holoprosencephaly 1 |
|
Micropenis, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia |
OMIM:236100 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
