| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Cardiac Conduction Defect |
|
Arrhythmia, Syncope |
OMIM:115080 |
| Atrial Septal Defect 6 |
|
Atrial septal defect, Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602086 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... |
OMIM:602087 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Atrial Fibrillation, Familial, 15 |
|
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... |
OMIM:615770 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... |
OMIM:115200 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology |
ORPHA:1479 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Failure to thrive, Alopecia, Short hallux, Spinal rigidity, Limitation of joint mo... |
ORPHA:337 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... |
OMIM:610476 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Atrial Standstill 1 |
|
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... |
OMIM:108770 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Micrognathia, Onychauxis, Hyperconvex fingernails, Talipes calcaneovarus, Congenital ... |
ORPHA:319195 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Myopathy, Myofibrillar, 1 |
|
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... |
OMIM:601419 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Nephronophthisis, Short ... |
OMIM:184260 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Acanthocytosis, Decreased ... |
OMIM:615558 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Parana Hard Skin Syndrome |
|
Generalized hyperpigmentation, Tapered finger, Thickened skin, Respiratory insufficiency, Hyperke... |
ORPHA:2812 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst... |
OMIM:600561 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... |
OMIM:251450 |
| Winchester Syndrome |
|
Kyphosis, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Gen... |
OMIM:277950 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Respiratory insufficiency... |
OMIM:611890 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... |
OMIM:619897 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Abnormal sacrum mo... |
ORPHA:1988 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Death in infancy, Talipes, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitat... |
ORPHA:157973 |
| Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
| Aredyld Syndrome |
|
Craniofacial hyperostosis, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly... |
ORPHA:1133 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short neck, Multiple prenatal fractures, Beaded ribs, Micrognathia, Flexion contractu... |
OMIM:616897 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Alopecia, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, ... |
OMIM:136300 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Hemolytic-uremic syndr... |
OMIM:614727 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... |
OMIM:620236 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Waddli... |
ORPHA:94068 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
| Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Alopecia, Rhizomelia, Kyphoscoliosis, Mic... |
OMIM:215100 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
| Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... |
ORPHA:356961 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo... |
ORPHA:93351 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
| Progressive Pseudorheumatoid Dysplasia |
|
Waddling gait, Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyph... |
OMIM:208230 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia, Micrognathia, Ataxia, Kypho... |
ORPHA:48431 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy |
OMIM:607487 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint... |
OMIM:613848 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, Osteopathia striata, Abnormal pelvic girdle bone morphology, A... |
ORPHA:2779 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Pes planus, Lipodystrophy, Lipoatrophy, Cachexia, Joint stif... |
ORPHA:1979 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Mi... |
ORPHA:3409 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Short neck, Synophrys, Short palm, Acanthosis nigricans, Clinodactyly of the... |
ORPHA:85293 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse... |
ORPHA:2501 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ... |
OMIM:300717 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... |
OMIM:255800 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Multiple joint contractures, Cryptorchidism, Hip dislocation, Res... |
ORPHA:370968 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Enlarged epiphyses, Irregularity of vertebral bodies, Coxa vara, Abnormal shoulder morphology, Ir... |
ORPHA:1159 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
| Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
| Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
| Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
| Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... |
OMIM:614672 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alop... |
OMIM:135100 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Mic... |
OMIM:214150 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive |
OMIM:600121 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Diabetes mellitus, Hypospadias, Cachexia, Joint stiffnes... |
ORPHA:3242 |
| Stuve-Wiedemann Syndrome 1 |
|
Apnea, Short neck, Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Blotchi... |
OMIM:601559 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, A... |
OMIM:253000 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Joint stiffness, Abnormal hair morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Onychogry... |
OMIM:617756 |
| Multifocal Atrial Tachycardia |
|
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... |
ORPHA:3282 |
| Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Flynn-Aird Syndrome |
|
Alopecia, Ataxia, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Kyphosis, Bone cys... |
ORPHA:2047 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri... |
ORPHA:1860 |
| Prieto Syndrome |
|
11 pairs of ribs, Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Patellar subluxation... |
OMIM:309610 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig... |
ORPHA:100024 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... |
ORPHA:93284 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Warburg Micro Syndrome 1 |
|
Overlapping toe, Kyphoscoliosis, Micrognathia, Cryptorchidism, Osteoporosis, Facial hypertrichosi... |
OMIM:600118 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithel... |
ORPHA:49041 |
| Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
| Osteogenesis Imperfecta, Type Xiii |
|
Reduced bone mineral density, Femoral bowing, Enuresis nocturna, Generalized hirsutism, Limitatio... |
OMIM:614856 |
| Zimmermann-Laband Syndrome 3 |
|
Thick hair, Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Synophry... |
OMIM:618658 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Inguinal hernia, Small for gestational age, Kyphosis, Reduced bone mineral density... |
OMIM:618392 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Inguinal hernia, Coxa valga, Cryptorchidism, Osteoporosis, Finger clinodactyly, Patellar subluxat... |
ORPHA:2958 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
| Schwartz-Jampel Syndrome |
|
Apnea, Micromelia, Short neck, Micrognathia, Low anterior hairline, Coxa vara, Wrist flexion cont... |
ORPHA:800 |
| Cantu Syndrome |
|
Broad hallux, Ovoid vertebral bodies, Short hallux, Coxa valga, Short neck, Large for gestational... |
OMIM:239850 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Short neck, Tapered finger, ... |
OMIM:616801 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Achondroplasia |
|
Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora... |
OMIM:100800 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Proteinuria, Cachexia, Microscopic hematuria, Cong... |
ORPHA:77297 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Short neck, Osteoporosis, Low anterior ha... |
OMIM:616033 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Cachexia, Micrognathia, Limitation of joint mobility, Osteo... |
ORPHA:2774 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Short humerus, Short femur, Sandal gap, Small for gestational age, Hypospad... |
OMIM:607143 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Inability to walk, Ankle clonus, Gait disturbance, Scoliosis, Joint contracture, Pes cavus |
OMIM:611225 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... |
ORPHA:99105 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Osteolys... |
ORPHA:93160 |
| Idiopathic Bronchiectasis |
|
Cachexia, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, Bronchie... |
ORPHA:60033 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus, Death in childhood |
OMIM:200900 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Osteoporosis, Hyperkeratosis, Nail dystrophy, Sparse... |
OMIM:618625 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Short tibia, Unicoronal synostosi... |
OMIM:616300 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Albinism, Kyphosis, Osteoporosis, Platyspondyly, Hypopigmentation of th... |
ORPHA:2786 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... |
OMIM:610978 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Alopecia, Delayed epiphyseal ossification, Rickets, ... |
OMIM:600785 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Left ventricular hypertrophy, Congestive heart failure, Bradycardia, Ventricular hypertrophy |
OMIM:619048 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... |
ORPHA:2098 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Moynahan Syndrome |
|
Alopecia, Cachexia, Hyperkeratosis, Hypogonadism, Sparse hair |
ORPHA:2574 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... |
ORPHA:69125 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s... |
OMIM:253010 |
| Christianson Syndrome |
|
Death in early adulthood, Cachexia, Gait ataxia, Joint hyperflexibility, Truncal ataxia, Arthrogr... |
ORPHA:85278 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
| Hyperekplexia 4 |
|
Inguinal hernia, Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis,... |
OMIM:618011 |
| Extensor Tendons Of Finger Anomalies |
|
Multiple lipomas, Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Short neck, Micrognathia, Synophrys, Low anterior hairline, Sparse hair, Hypothyroidism, Joint la... |
ORPHA:391408 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Diabetes mellitus, Hypermelanotic macule, Tapered finger, Abnormal hair morphology, Pat... |
ORPHA:317 |
| Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Ulnar bo... |
OMIM:620076 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Tapered finger, Short finger, Death in childhood, Abnormality of the nail, Hype... |
OMIM:302000 |
| Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Elbow flexion... |
ORPHA:75840 |
| Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert... |
OMIM:108720 |
| Sialidosis Type 2 |
|
Inguinal hernia, Ataxia, Kyphosis, Splenomegaly, Flexion contracture, Osteoporosis, Dyspnea, Peda... |
ORPHA:87876 |
| Proteus Syndrome |
|
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Depigmentation/hype... |
OMIM:176920 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... |
ORPHA:542306 |
| Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Osteoporosis, Thrombocytopenia, Decreased body weight |
OMIM:613606 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morp... |
ORPHA:177 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Respiratory distress, Hyperparathyroidism, Short femur, Inguinal hernia, Recurrent fr... |
OMIM:618188 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... |
OMIM:614399 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Alopecia, Hyperpigmentation of the skin, Camptodactyly of finger, Short thumb,... |
ORPHA:2251 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory insufficiency, Respiratory failure, Death in childhood, Joint contracture, Failure to... |
OMIM:616081 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Short palm, Neonatal death, Atelectasis, Short toe, Patent ductus... |
OMIM:269860 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... |
ORPHA:2614 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Short phalanx of ... |
ORPHA:56304 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hyperpigmentation, Hyperkeratosis, Type II diabetes mellitus, Delayed puberty, Genera... |
ORPHA:2297 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Hyperlordosis, Hypop... |
OMIM:226980 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening... |
ORPHA:536467 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal fingernail morphology, Craniosynostosis, A... |
ORPHA:1515 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Inability to walk, Abnormal respiratory system physiology, Respiratory in... |
ORPHA:266 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, I... |
OMIM:616817 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia |
ORPHA:871 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... |
ORPHA:157 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia |
OMIM:619164 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Respiratory insufficiency due to muscle weakness, Inability to walk, Flexion contr... |
ORPHA:2590 |
| Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing... |
ORPHA:1106 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Recurrent respiratory infections, Small for gestational age, Kyphosis, Congenital bilateral hip d... |
ORPHA:85288 |
| Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Cachexia, Tapered finger... |
ORPHA:2930 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Hypergonadotropic hypogonadism, Split hand, Flexion contracture, Sco... |
ORPHA:2850 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Hypoglycemia, Unilateral renal agenesis, Highly arched eyebrow, Kyphosis, Synop... |
OMIM:617190 |
| Atrial Fibrillation, Familial, 13 |
|
Aortic valve stenosis, Paroxysmal atrial fibrillation, Left atrial enlargement |
OMIM:615377 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preax... |
OMIM:210710 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Parakeratosis, Congenital hip dislocation, Adrenal hypoplasia, Micrognathi... |
OMIM:308050 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Alopecia, Pancytopenia, Aplastic anemia, Ataxia, Avascular necrosis of the ca... |
OMIM:613990 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor... |
ORPHA:40 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Advanced ossi... |
OMIM:614613 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Long eye... |
OMIM:275400 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Palmoplantar hyperker... |
ORPHA:89838 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Hip contracture, Pes planus, Broad-based gait, Hyperlordosis, Kyphosis, Achilles t... |
OMIM:615290 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
| Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Micrognathia, Abnormal foot morphology, Flexion contracture, 2-... |
OMIM:618186 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epitheli... |
ORPHA:228308 |
| Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hyperlordosis, Cryptorchidism, Osteoporosis, Scoliosis |
ORPHA:408 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Abnormal lung morphology, Flexion contracture, Neonatal epiphyseal st... |
ORPHA:35173 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Waddling gait, Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspon... |
OMIM:617974 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Short palm, Micropenis, Hypopi... |
OMIM:176270 |
| Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Micrognathia, Insulin resistance, Osteoporosis, Low ante... |
ORPHA:73272 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... |
ORPHA:217346 |
| Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short neck, Osteoporosis, Short metatarsal, Obesity, Pseudohypoparathyroidism, ... |
OMIM:612463 |
| Diastrophic Dysplasia |
|
Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t... |
ORPHA:628 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Cachexia, Joint stiffness |
ORPHA:1144 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest |
OMIM:618235 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Increased bone mineral density... |
ORPHA:902 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Joint stiffness, Atelectasis, White hair, Abnormal finger morphology, Cu... |
ORPHA:896 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Ataxi... |
ORPHA:3363 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Hypoglycemia, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Nephrocalcin... |
OMIM:618005 |
| Mcdonough Syndrome |
|
Cachexia, Micrognathia, Kyphosis, Synophrys, Cryptorchidism, Scoliosis |
ORPHA:2471 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Waddling gait, Isosexual precocious puberty, Metap... |
ORPHA:2788 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... |
OMIM:259450 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis |
ORPHA:505 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Silver-Russell Syndrome |
|
Sandal gap, Failure to thrive in infancy, Cachexia, Hypospadias, Micrognathia, Lower limb asymmet... |
ORPHA:813 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell ... |
OMIM:618987 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Micrognathia, Metatarsus adductus, Cryptorchidism, Brushfield spots, Death in childhood, J... |
OMIM:214110 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Overlappin... |
OMIM:618291 |
| Cantú Syndrome |
|
Short neck, Low anterior hairline, Broad ribs, Generalized hirsutism, Finger syndactyly, Broad ha... |
ORPHA:1517 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Large for gestational age, Micrognathia, Flexion contracture, Hemivertebrae, Tibial b... |
ORPHA:96334 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul... |
ORPHA:422 |
| Thumb Deformity And Alopecia |
|
Short thumb, Alopecia, Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Mycetoma |
|
Back pain, Abnormality of the knee, Osteomyelitis, Structural foot deformity, Bone cyst, Osteopor... |
ORPHA:2583 |
| Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Pes planus, Lipodystrophy, Down-sloping shoulders, Micrognathia, Elbow f... |
OMIM:616200 |
| Menkes Disease |
|
Joint laxity, Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Deat... |
OMIM:309400 |
| Macs Syndrome |
|
Joint laxity, Pes planus, Alopecia, Hypergonadotropic hypogonadism, Micrognathia, Sparse eyebrow,... |
OMIM:613075 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Cachexia, Weight loss, Gait ataxia, Aminoaciduria, Proximal tubulopathy, Fa... |
OMIM:612075 |
| Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respirato... |
ORPHA:2771 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature adrenarche, Micropenis, Hypopigmentation of the skin, Hypothalamic luteiniz... |
ORPHA:398079 |
| Nicolaides-Baraitser Syndrome |
|
Short palm, Alopecia, Sandal gap, Highly arched eyebrow, Curly eyelashes, Abnormal hair pattern, ... |
ORPHA:3051 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ... |
OMIM:602080 |
| Farber Disease |
|
Respiratory distress, Abnormality of the knee, Nodular pattern on pulmonary HRCT, Abnormal foot m... |
ORPHA:333 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Short neck, Missing ribs, Humeroradial synostosis,... |
OMIM:251230 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ... |
OMIM:271640 |
| Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Thickened skin, Flexion contracture, Osteoporosis, ... |
OMIM:228600 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prematu... |
OMIM:212138 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptor... |
OMIM:300219 |
| Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Abnormality of body weight, Delayed p... |
ORPHA:314811 |
| Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, I... |
OMIM:300148 |
| 3-Methylglutaconic Aciduria Type 1 |
|
3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia, Progressive cerebellar ataxia |
ORPHA:67046 |
| Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume... |
ORPHA:93333 |
| Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Failure to thrive in infancy, Ataxia, Cachexia, Joint stiffness... |
ORPHA:702 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... |
ORPHA:166011 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Cachexia, Short neck, Micrognathia, Small hand, Elbow flexion co... |
ORPHA:371364 |
| Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Weight loss, Cough |
ORPHA:64741 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Hyp... |
OMIM:617294 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Achilles tendon contracture, Calf muscle hypertrophy, Decreased cervical spine flexi... |
ORPHA:254361 |
| Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short neck, Short toe, Osteoporosis, Short metatarsal, Obesity, Pseudohypoparat... |
OMIM:103580 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:615269 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:277440 |
| Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi... |
ORPHA:2314 |
| Diencephalic Syndrome |
|
Cachexia, Long penis, Large hands, Decreased body weight, Abnormality of the hypothalamus-pituita... |
ORPHA:1672 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin, Inguinal hernia, Brittle hair, Arachnodactyly, Kyphoscoliosis, Meth... |
OMIM:236200 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Synophrys, Low anterior hairline, C... |
ORPHA:955 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Lack of facial subcutaneous fat, Mic... |
ORPHA:2959 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Prenata... |
OMIM:618393 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Ataxia, Metaphyseal sclerosis, Thrombocytopenia, Osteoporos... |
OMIM:612199 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Recurrent respiratory infections, Rhizomelia, Talipes, Micromelia, Short n... |
ORPHA:1842 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, Dislocated r... |
OMIM:102500 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... |
OMIM:614470 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... |
OMIM:617912 |
| Loeffler Endocarditis |
|
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... |
ORPHA:75566 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Hypoglycemia, Short neck, Cryptorchidism, Platyspondyly, Cone-shaped epiphyses of... |
OMIM:618958 |
| Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... |
OMIM:618414 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
| Pachydermoperiostosis |
|
Abnormal hair quantity, Osteomyelitis, Abnormal fingernail morphology, Abnormal hair pattern, Ele... |
ORPHA:2796 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Recurrent aspiration pneumonia |
OMIM:300484 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific... |
ORPHA:93360 |
| Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hyperextensibility of the knee, Elevated circulating thyroid-stimulating hormone co... |
OMIM:601812 |
| Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Thoracic kyphoscoliosis, Alopecia, Generalized hypoplasia of dental enamel, Flexion contracture, ... |
OMIM:203550 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica... |
OMIM:271630 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Reduced bone mineral density, Abnormal pelvic girdle bone ... |
ORPHA:2370 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Short neck, Microg... |
ORPHA:2756 |
| Perrault Syndrome 1 |
|
Ataxia, Increased circulating gonadotropin level, Osteoporosis, Gait ataxia, Talipes equinovarus,... |
OMIM:233400 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type II diabetes mellitus |
OMIM:610947 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Paroxysmal ventricula... |
OMIM:613507 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Pigmentary retinopathy, Scoliosis, Failure to thrive |
OMIM:618234 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Cryptorch... |
OMIM:301900 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the... |
ORPHA:79397 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Stiff neck, Short neck, Micrognathia, Femoral bowing, Short long... |
OMIM:617022 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Cleidocranial Dysplasia |
|
Sinusitis, Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Sp... |
ORPHA:1452 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Short ne... |
ORPHA:2176 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab... |
ORPHA:2635 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Micrognathia, Dyspnea, Aplasia/Hypoplasia of fingers, Upper airway obstruct... |
ORPHA:141152 |
| Endocardial Fibroelastosis |
|
Hypoplasia of penis, Sandal gap, Hypoglycemia, Micrognathia, Cryptorchidism, Anterior hypopituita... |
ORPHA:2022 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
| Bresek Syndrome |
|
Alopecia, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Renal hypoplasia, Neonatal d... |
ORPHA:85284 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Autoamputation of digits, Diffuse palmoplantar hyperkeratosis, Flexion contracture, Hyperkeratosi... |
ORPHA:79503 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Postaxial polydactyly, Short neck, Micrognathia, Wide anterior fontanel, Prea... |
OMIM:617925 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Acrokeratosis Verruciformis |
|
Ridged nail, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Acrokeratosis |
OMIM:101900 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Camptodactyly of finger, Palmoplantar hyperkeratosis, Hyperkeratosis, Nail dyst... |
OMIM:212360 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Autoamputation of digits, Hypogonadotropic hypogonadism, Osteolysis, Honeycomb palmopla... |
ORPHA:494 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Death in ... |
ORPHA:534 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Renal hypoplasia, Respiratory insufficiency, Respiratory failure,... |
OMIM:276950 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Brittle hair, Micrognathia, Flexion contracture, Glucose intolerance, Sparse hair, Hyperglycemia,... |
OMIM:608612 |
| Seckel Syndrome |
|
Sparse scalp hair, Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Cachexia, Mic... |
ORPHA:808 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Micrognathia, Short neck, Dyspnea, Respiratory failure, Mandibular aplasia,... |
ORPHA:1832 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Ground-glass opacification, ... |
OMIM:619773 |
| Epidermolytic Palmoplantar Keratoderma |
|
Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi... |
ORPHA:2199 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis, Hirsutism |
OMIM:300434 |
| Proteus Syndrome |
|
Central heterochromia, Pulmonary embolism, Neoplasm of the thymus, Abnormal finger morphology, Ab... |
ORPHA:744 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m... |
OMIM:606612 |
| Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Bowing of the legs, Micrognathia, O... |
OMIM:613849 |
| Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Bilateral cryptorchidism, 2-... |
OMIM:300998 |
| Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
| Rhyns Syndrome |
|
Osteopenia, Renal insufficiency, Radial bowing, Decreased response to growth hormone stimulation ... |
OMIM:602152 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Short neck, Micrognathia, Abnorm... |
ORPHA:2636 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Adrenal hypoplasia, Micrognathia, Morgagni diaphragmatic hernia, Hypoplasia of the th... |
OMIM:613177 |
| Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Reduced bone miner... |
ORPHA:2611 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
| Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Thoracic scoliosis, Talipes, Spinal rigidity, Micrognathia, Kypho... |
OMIM:620351 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, Inability to walk, Hip d... |
OMIM:616756 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... |
ORPHA:70588 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Failure to thrive, Small for gestational age, Sparse facial hair, Sparse axillary hai... |
OMIM:608154 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Increased body weight, Micropenis, Hypopigmentation of the skin,... |
ORPHA:398069 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Alopecia, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Hip di... |
ORPHA:1005 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Deep-set nails, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular ... |
OMIM:201170 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
| Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short neck, Elevated circulating thyroid-stimulating hormone concentration, Ost... |
OMIM:612462 |
| Peroxisome Biogenesis Disorder 3B |
|
Ataxia, Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
| Muscular Dystrophy, Congenital, 1B |
|
Achilles tendon contracture, Respiratory failure, Spinal rigidity |
OMIM:604801 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Hypoglycemia, Lacticaciduria, Methylmalonic acid... |
OMIM:245400 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia, Joint stiffness |
ORPHA:1216 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Congenital hip dislocation, Decreased response to growth hormone stimulation test, Mi... |
OMIM:616007 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Pes planus, Recurrent fractures, Talipes, Osteoporosis, Hip dislocat... |
ORPHA:2078 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis, Recurrent aspiration pneumonia, Ataxia |
OMIM:619971 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Proteinuria, Hypoglycemia, Osteoporosis, Delayed puberty, Failure to thrive |
ORPHA:369 |
| Temple Syndrome |
|
Few cafe-au-lait spots, Small for gestational age, Decreased response to growth hormone stimulati... |
ORPHA:254516 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Fasting hyperinsulinemia, Reduced bone... |
ORPHA:79474 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Akinesia, Respiratory failure, Death in childhood, Neonatal death,... |
OMIM:619334 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Platyspondyly, Osteoporosis, Dentinogenesis imperfecta |
ORPHA:71267 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Urinary incontinence, Cachexia, Dysmetria, Gait ataxia |
OMIM:618093 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Cough, Dyspnea, Inability to walk, Respirator... |
ORPHA:90117 |
| Rett Syndrome |
|
Apnea, Intermittent hyperventilation, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Short foot, ... |
OMIM:312750 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Premature graying of hair, Sparse hair, Intrauterine grow... |
ORPHA:1775 |
| Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Synophrys, Abnormal respiratory sy... |
ORPHA:505652 |
| Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Restrictive ventilatory defect, Areflexia of lower li... |
OMIM:615704 |
| Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Failure to thrive, Hypoglycemia, Anemia |
OMIM:610090 |
| Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal ... |
ORPHA:91500 |
| Parc Syndrome |
|
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes |
OMIM:600331 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthritis, Flexion contracture, Abn... |
ORPHA:666 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Small for gestational age, Hypospadias, Hypoglycemia, Micrognathia, ... |
ORPHA:397590 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Femoral hernia, ... |
ORPHA:198 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Omphalocele, Premature thelarche, Abnormal hand morphology, Osteolysis involving bone... |
ORPHA:371428 |
| Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Microretrognathia, Alo... |
OMIM:614008 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hypoglycemia, Ataxia, Cachexia, Di... |
ORPHA:42 |
| Baralle-Macken Syndrome |
|
Pes planus, Urinary incontinence, Tapered finger, Kyphosis, Inability to walk, Obesity, Acanthosi... |
OMIM:619255 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Absent eyebrow, Alopecia, Inguinal hernia, Craniosyn... |
ORPHA:166035 |
| Poems Syndrome |
|
Sclerosis of hand bone, Sclerotic vertebral endplates, Polycythemia, Hypothyroidism, Sclerosis of... |
ORPHA:2905 |
| 19P13.3 Microduplication Syndrome |
|
Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Precocious puberty, Long fingers, Osteop... |
ORPHA:447980 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Increased ur... |
OMIM:239000 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Sinus bradycardia |
OMIM:126320 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Alopecia, Flexion contracture, Osteolysis involving bones of the upper limbs, Osteoly... |
ORPHA:88630 |
| Sandestig-Stefanova Syndrome |
|
Laterally extended eyebrow, Small for gestational age, Rocker bottom foot, Highly arched eyebrow,... |
OMIM:618804 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly |
OMIM:614702 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec... |
ORPHA:31826 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Cryptorchidism, Flexi... |
OMIM:615547 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Apnea, Kyphosis, Cryptorchid... |
OMIM:619797 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Distal joint lax... |
OMIM:254090 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Patellar hypoplasia, Dysmetria, Thoracic kyphosis, Micro... |
ORPHA:3041 |
| Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
| Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Scarring, Abnormality of subcutaneous fat tissue, Osteomalacia, Femo... |
ORPHA:1901 |
| Achondroplasia |
|
Bowing of the legs, Hip joint hypermobility, Abnormal iliac wing morphology, Narrow greater sciat... |
ORPHA:15 |
| Omenn Syndrome |
|
Alopecia, Pneumonia, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Thickened skin, Thyroid... |
ORPHA:39041 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Osteoporosis, N... |
OMIM:613989 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Ataxia, Large for gestational... |
OMIM:615398 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Genu valgum, Small pituitary gland, Micropenis, Decreas... |
OMIM:614880 |
| Osteogenesis Imperfecta, Type Xxi |
|
Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platysp... |
OMIM:619131 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypospadias, Hypoglycemia, Apnea, Bronchiectasis, Respiratory insuffic... |
OMIM:618253 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Lipoatrophy, Micrognathia, Kyphosis, Cryptorchidism, Reduced bone mineral... |
ORPHA:2617 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Polyuria, Osteoporosis, Rickets, Mottled pigmentation of photoexposed areas, Death in ado... |
OMIM:560000 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... |
OMIM:611777 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Recurrent fract... |
OMIM:231070 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Acanthosis nigricans, Hyperglycemia, Alopecia, Sho... |
OMIM:248370 |
| Oculodentodigital Dysplasia |
|
Brittle hair, Micrognathia, Abnormal form of the vertebral bodies, Sparse hair, Clinodactyly of t... |
ORPHA:2710 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| Kerion Celsi |
|
Alopecia, Lymphadenopathy |
ORPHA:499 |
| Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Osteoporosis, Increased m... |
ORPHA:2169 |
| Mirage Syndrome |
|
Adrenal hypoplasia, Leukopenia, Microphallus, Aspiration pneumonia, Hypospadias, Cryptorchidism, ... |
OMIM:617053 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Hypoplasia of the thymus, Genu varum, Long toe, Ab... |
OMIM:264090 |
| Hypomelanosis Of Ito |
|
Syndactyly, Alopecia, Kyphosis, Macular hypopigmented whorls, streaks, and patches, Hand polydact... |
OMIM:300337 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hypospadias, Arachnodactyly, Joint stiffness, Kyphosis, Aplasia... |
ORPHA:1548 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Missing ribs, Dyspnea, He... |
ORPHA:2759 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
| Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Wide anterior fontanel, Decreased propor... |
OMIM:617241 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Onychauxis, Precocious puberty, Insulin-resistant diabet... |
OMIM:262190 |
| C1Q Deficiency 2 |
|
Atelectasis, Bronchiectasis, Arthritis, Recurrent lower respiratory tract infections, Anemia |
OMIM:620321 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Slow-growing hair, Metatarsus valgus, ... |
ORPHA:3082 |
| Rhizomelic Syndrome, Urbach Type |
|
Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Short neck, Abnormali... |
ORPHA:3098 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Lumbar hyperlordosis, Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa... |
ORPHA:2848 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Generalized joint laxity, Flexion contract... |
ORPHA:536471 |
| Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Respiratory insufficiency, Hypogonadism, Diabetes insipidus, Iris hypopigmentation |
ORPHA:97229 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Spastic ataxia, Kyphoscoliosis, Cervical spondylosis, Gait disturbance, Alopecia of sc... |
ORPHA:199354 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Anterior rib cupping,... |
OMIM:211350 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Knee dislocation, Shoulder... |
OMIM:245600 |
| Ring Chromosome 10 Syndrome |
|
Sandal gap, Cachexia, Short neck, Tapered finger, Micrognathia, Intrauterine growth retardation |
ORPHA:1438 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Tetrasomy 12P |
|
Cachexia, Short neck, Sparse eyebrow, Joint hyperflexibility, Sparse hair |
ORPHA:884 |
| Bethlem Myopathy 2 |
|
Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Atrophic scars, Scoliosis |
OMIM:616471 |
| Alexander Disease Type I |
|
Cachexia, Failure to thrive, Ataxia, Scoliosis |
ORPHA:363717 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... |
OMIM:617952 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... |
OMIM:261740 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora... |
OMIM:304120 |
| Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Cryptorchidism, Unsteady gait, Genu valgum, Frontal upsweep of hair, Micropenis, Hyd... |
OMIM:617798 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
2-4 finger syndactyly, Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypopla... |
OMIM:613573 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Short humerus, Recurrent respiratory infections, Short femur, Hypospadias, ... |
ORPHA:17 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Insulin resis... |
ORPHA:363400 |
| Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Congeni... |
ORPHA:536516 |
| Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ... |
ORPHA:970 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Small for gestational age, Hypospadias, Decreased response to growth ... |
OMIM:180860 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
| Premature Ovarian Failure 2B |
|
Osteoporosis, Delayed puberty |
OMIM:300604 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis... |
OMIM:615830 |
| H Syndrome |
|
Microcytic anemia, Hernia, Micropenis, Alopecia, Recurrent pharyngitis, Bronchiectasis, Hepatospl... |
ORPHA:168569 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
| Donohue Syndrome |
|
Hypermelanotic macule, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Aca... |
OMIM:246200 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Pes planus, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion con... |
OMIM:600175 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Ataxia, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death |
OMIM:610127 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tib... |
OMIM:241530 |
| Infantile Sialic Acid Storage Disease |
|
Osteopenia, Fair hair, Abnormal foot morphology, Splenomegaly, Vacuolated lymphocytes, Nephrotic ... |
OMIM:269920 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Lipodystrophy, Hyperlordosis, Spinal rigidity, Splenomegaly, Insulin resistance, Flex... |
OMIM:613327 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Osteopenia, Pes planus, Kyphoscoliosis, Atrophic scars, Follicular hyperkeratosis, Hernia, Joint ... |
ORPHA:300179 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Delayed epiphyseal ossifi... |
ORPHA:785 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia, Lower limb asymmetry, Clinodactyly of the 5th finger, In... |
ORPHA:231147 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ataxia, Slender build, Cachexia, Weight loss |
OMIM:613662 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Wide... |
OMIM:616482 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperhidrosis, Palmoplantar hyperker... |
OMIM:615598 |
| Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Lower limb asymmetry, Polydactyly, Decreased body weight... |
ORPHA:231140 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hyperphosphaturia, Alopecia, Recurrent fractures, Kyphoscoliosis, Abnormal toe morpho... |
OMIM:163200 |
| Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Alopecia |
OMIM:114580 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Short femur, Anterior encephalocele, Foot oligodactyly, Scoliosis, Amelia |
OMIM:601357 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Alopecia, Lipoatrophy, Increased subcutaneous trunc... |
ORPHA:2457 |
| Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
| Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Micrognathia, Abnormality of the endocrine system, Short toe, ... |
ORPHA:633 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Joint stiffness, Absent eyelashes, Sparse eyebrow, Decreased body weigh... |
ORPHA:2985 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Small for gestational age, Respiratory failure, Aspiration pneumon... |
OMIM:619057 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tapered finger, Flexion contracture, Dysmetria, Gait ataxia, Respiratory failure, Steppag... |
OMIM:616505 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Arachnodactyly, Camptodactyly of finger, Kyphosis, Hyperkeratosis, Coarse hair, Joi... |
ORPHA:1883 |
| Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Inability to walk, Respiratory insufficiency, Athetosis, Gait disturbance, Scoliosi... |
OMIM:618241 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Osteoporosis, Obesity, Nephrolithiasis, ... |
OMIM:219090 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal dental enamel morphology, Osteol... |
ORPHA:3019 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Sparse hair, Broad ribs, Vertebral fusion, Ataxia, Cryptorchi... |
OMIM:139210 |
| Craniofaciofrontodigital Syndrome |
|
Osteopenia, Joint laxity, Respiratory distress, Thick hair, Large for gestational age, Dyspnea, P... |
ORPHA:363705 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Sparse body hair, Alopecia uni... |
ORPHA:1008 |
| Niemann-Pick Disease, Type A |
|
Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Inabil... |
OMIM:257200 |
| Mulibrey Nanism |
|
Intrauterine growth retardation, Cachexia |
ORPHA:2576 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Hypopla... |
ORPHA:3455 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Respiratory insufficiency due to muscle weakness, Kyphosis, Talipes equinovarus, Scoliosis, Diffi... |
OMIM:617087 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... |
ORPHA:71526 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
| Gm1 Gangliosidosis |
|
Abnormal form of the vertebral bodies, Aspiration pneumonia, Generalized hirsutism, Ataxia, Hyper... |
ORPHA:354 |
| Chylomicron Retention Disease |
|
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Prolidase Deficiency |
|
Recurrent respiratory infections, Abnormality of retinal pigmentation, Arachnodactyly, Abnormal f... |
ORPHA:742 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Failure... |
ORPHA:277 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Micrognathia, Kyp... |
OMIM:615381 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ov... |
ORPHA:2232 |
| Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
| Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass ... |
ORPHA:99931 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure, Flexion contracture |
OMIM:615348 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Sho... |
ORPHA:3085 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... |
OMIM:265120 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Whipple Disease |
|
Generalized hyperpigmentation, Ataxia, Cachexia, Mediastinal lymphadenopathy, Splenomegaly, Insul... |
ORPHA:3452 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Prominent fingertip pads, Small for gestational age, Hypoglycemia, Narrow foot, Fine hair, Long e... |
ORPHA:231137 |
| Bronchogenic Cyst |
|
Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleur... |
ORPHA:2357 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
| Bethlem Myopathy |
|
Waddling gait, Hypoventilation, Reduced maximal expiratory pressure, Multiple joint contractures,... |
ORPHA:610 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Premature adrenarche, Hypopigm... |
ORPHA:739 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Eunuchoid habitus, Decreased serum testosterone concentration, Decreased testicular s... |
ORPHA:432 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym... |
OMIM:300400 |
| Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Aquagenic Palmoplantar Keratoderma |
|
Abnormal phalangeal joint morphology of the hand, Recurrent sinopulmonary infections, Orthokerato... |
ORPHA:498359 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyly, Scoliosis |
OMIM:126550 |
| 8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Ectopic pos... |
ORPHA:508488 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Abnormal lung lobation, Hypoplasia of the thymus, Vesicoureteral reflux... |
ORPHA:567 |
| Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
| 15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
ORPHA:94065 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Alopecia, Ulnar deviation of the hand, Hypogonadotropic hypo... |
OMIM:612079 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Tenorio Syndrome |
|
Osteopenia, Joint laxity, Hypoglycemia, Apnea, Recurrent pneumonia, Enuresis, Gait disturbance, S... |
OMIM:616260 |
| Immunodeficiency 54 |
|
Recurrent respiratory infections, Failure to thrive, Splenomegaly, Respiratory insufficiency, Lym... |
OMIM:609981 |
| Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Joint hyperflexibility... |
ORPHA:2058 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Small for gestational age, Urinary incontinence, Camptodactyly of finger, Tachypnea, Respiratory ... |
OMIM:604320 |
| Lymphoid Interstitial Pneumonia |
|
Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Multiple pulmonary cysts, Resp... |
ORPHA:79128 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... |
ORPHA:2410 |
| Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections... |
ORPHA:70 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615271 |
| Spondylo-Ocular Syndrome |
|
Pes planus, Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Short neck, Ost... |
ORPHA:85194 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ... |
OMIM:610913 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Waddling gait, Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bo... |
OMIM:602111 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Short thumb, Patent ductus arteriosus, Osteoporosis, Neutropenia, ... |
OMIM:612562 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Irregular hyperpigmentation |
ORPHA:1336 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Cardiac amyloi... |
ORPHA:85451 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... |
ORPHA:280 |
| Cln3 Disease |
|
Left ventricular hypertrophy, T-wave inversion, Bradycardia |
ORPHA:228346 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Pericardial lymphangiectasia, Osteoporosis, Pulmonary lymphangiectasia, Camptodactyly... |
OMIM:616006 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Kyphos... |
ORPHA:3121 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Hypospadias, Short hallux, Supernumerary nipple, Tru... |
ORPHA:3224 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory tract infection, Atelectasis, Respira... |
ORPHA:365 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spo... |
ORPHA:79399 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Ataxia, Acanthocytosis,... |
ORPHA:96180 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Thoracic kyphoscoliosis, Decreased response to growth hormone stimulation test, Hip dislocation, ... |
ORPHA:436174 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Thanatophoric Dysplasia |
|
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Patent ductus arteri... |
ORPHA:2655 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Kniest Dysplasia |
|
Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu... |
OMIM:156550 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Congenital contracture, Respiratory failure |
OMIM:225753 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Bowing of the long bones, Recurrent fractures, Cranial hyper... |
ORPHA:2801 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Restric... |
OMIM:618484 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, Neutropenia, Cryptorchidism, Patent ductus arteriosus, Resp... |
OMIM:612541 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Hemochromatosis, Type 1 |
|
Alopecia, Diabetes mellitus, Hypogonadotropic hypogonadism, Splenomegaly, Osteoporosis, Azoosperm... |
OMIM:235200 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Micrognathia, Premature graying of hair, Short palm, Sparse hair, Abs... |
OMIM:268400 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma |
OMIM:244850 |
| Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Hypoventilation, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insuffi... |
OMIM:310200 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Alopecia totalis |
ORPHA:1014 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi... |
ORPHA:56305 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Hyperlordosis, Increased connective tissue, Atelectasis, Intercostal muscle weak... |
ORPHA:258 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... |
OMIM:606528 |
| Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:223500 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Palmoplantar blistering, Hyperkeratosis |
OMIM:131800 |
| Trimethylaminuria |
|
Hypertension, Tachycardia |
OMIM:602079 |
| Tbck-Related Intellectual Disability Syndrome |
|
Decreased response to growth hormone stimulation test, Short neck, Synophrys, Hypothyroidism, Hyp... |
ORPHA:488632 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Ataxia, Urinary incontinence, Cachexia, Inability to walk, Upper-limb joint contracture, Lower-li... |
ORPHA:300605 |
| Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Ataxia, Inability to walk, Respiratory failure, Failure to thrive |
ORPHA:70472 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
| Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon... |
OMIM:242900 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Generalized keratosis follicularis, Cut... |
ORPHA:2890 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
| Ck Syndrome |
|
Slender build, Hyperlordosis, Micrognathia, Kyphosis, Scoliosis, Abnormal cortical bone morpholog... |
OMIM:300831 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
| Brittle Cornea Syndrome |
|
Hallux valgus, Pes planus, Arachnodactyly, Osteoporosis, Abnormality of hair pigmentation, Cornea... |
ORPHA:90354 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hypothyroidism, Hypoparathyroidism, Osteoporosis, Hep... |
ORPHA:231226 |
| Alstrom Syndrome |
|
Pes planus, Renal insufficiency, Alopecia, Hypergonadotropic hypogonadism, Decreased response to ... |
OMIM:203800 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Cough, Atelectasis, Mediastinal lymphadenopathy, Leukocytos... |
OMIM:620233 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Splenomegaly, Failure to thrive, Osteoporosis |
ORPHA:79301 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Recurrent respiratory infections, Multiple joint contractures, Spinal rigidity, Ove... |
ORPHA:486815 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia |
OMIM:258865 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
| Smith-Mccort Dysplasia 1 |
|
Waddling gait, Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, H... |
OMIM:607326 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Alopecia, Rocker bottom foot, Proximal placement of thumb, Shor... |
OMIM:619762 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Elevated circ... |
OMIM:264700 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Short neck, Hyperlordosi... |
ORPHA:582 |
| Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Short neck, Reduced bone mineral density, Hyperkeratosis, Scoliosis, Failure to thrive |
OMIM:615279 |
| Classic Galactosemia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Ataxia, Abnormal erythrocyte enzyme l... |
ORPHA:79239 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Neonatal death, Intrauterine growth retardation, Failure to thrive |
OMIM:618237 |
| Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Hypoglycemia, Apnea, Thrombocytopenia, T... |
OMIM:606054 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Respiratory insufficiency, Ti... |
OMIM:617404 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension,... |
OMIM:180870 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w... |
OMIM:608940 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Short neck, Hemivertebrae, Congenital ichthyosiform erythroderma, Sparse hair, Rhizomelia, Sparse... |
OMIM:302960 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Hemophagocytosi... |
OMIM:607624 |
| Stüve-Wiedemann Syndrome |
|
Osteopenia, Respiratory distress, Apnea, Micromelia, Metaphyseal widening, Flexion contracture, K... |
ORPHA:3206 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Genu valgum, Reduced... |
ORPHA:2983 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Micrognathia, Kyphosis, Umbili... |
OMIM:615834 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Immunodeficiency 27A |
|
Abnormal bronchus physiology, Hypoplasia of the femoral head, Pneumonia, Splenomegaly, Leukocytos... |
OMIM:209950 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Death in infancy, Rhizomelia, Micrognathia, Metaphyseal chondrodysplasia, Abnormality... |
ORPHA:163966 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen... |
OMIM:600081 |
| Leigh Syndrome |
|
Ataxia, Respiratory insufficiency, Hepatocellular necrosis, Pigmentary retinopathy, Respiratory f... |
OMIM:256000 |
| Cockayne Syndrome B |
|
Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Square ... |
OMIM:133540 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Failure to thrive, Ataxia |
OMIM:620007 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Tubulointerstitial nephritis, Iron deficiency anemia, Neutropenia, Hypothyr... |
ORPHA:37042 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... |
ORPHA:457395 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Diabetes mellitus, Hypogonadotropic hypogonadism, ... |
ORPHA:465508 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation, Hyperkeratosis |
ORPHA:315 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Neurogenic bladder, Hypoglycemia, Short neck, Micrognathia, Splenomegaly, Neona... |
OMIM:608779 |
| Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min... |
OMIM:617052 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Cachexia, Methylmalonic aciduria, Aminoaciduria, Generalized hirsutism |
ORPHA:1933 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Hypoplastic toenails, Knee flexion contracture, Long toe, Death in i... |
OMIM:608836 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ... |
ORPHA:1896 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Hyperpigmentation of the skin, Cachexia, Clubbing, Clubbing of fingers, Nail dystrophy,... |
OMIM:175500 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Ataxia, Thrombocytopenia, Dyspnea, Osteoporosis, Nail pit... |
OMIM:127550 |
| Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enla... |
ORPHA:91 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... |
OMIM:610628 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Osteoporosis, Micropenis, Clinodactyly, Decreased testicular size |
OMIM:614838 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Reduced bone mineral density, Tibial bowing, Iron deficiency anemia, Hypop... |
ORPHA:93315 |
| Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,... |
ORPHA:2298 |
| Alpha-Mannosidosis |
|
Craniofacial hyperostosis, Bowing of the long bones, Recurrent respiratory infections, Inguinal h... |
ORPHA:61 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, S... |
ORPHA:583 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Ketotic hypoglycemia, Ethylmalonic aciduria, Increased level of methylsucci... |
ORPHA:26792 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... |
OMIM:601457 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Small for gestational age, Highly arched eyebrow, Micrognathia, Kyphosis, Abnorm... |
ORPHA:352490 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Abnormal dental enamel morphology, Microgn... |
ORPHA:861 |
| Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
| Sandhoff Disease |
|
Recurrent respiratory infections, Ataxia, Splenomegaly, Kyphosis, Failure to thrive |
ORPHA:796 |
| Trisomy 18 |
|
Microretrognathia, Abnormality of retinal pigmentation, Omphalocele, Camptodactyly of finger, Cac... |
ORPHA:3380 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvis, Narrow greater... |
OMIM:184252 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia, Hyperpigmentation of the skin |
OMIM:609197 |
| Menkes Disease |
|
Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f... |
ORPHA:565 |
| Trisomy 20P |
|
Short neck, Micrognathia, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced b... |
ORPHA:261318 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Joint laxity, Spinal rigidity, Reduced forced vital capacity, Respiratory insufficiency due to mu... |
OMIM:617066 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Hypospadias, Camptodactyly of finger, Cryptorchidism, Flexion contracture, Resp... |
ORPHA:1194 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures... |
OMIM:156510 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Postaxial hand polydactyly, Cachexia |
ORPHA:1389 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Gait disturbance, Scoli... |
ORPHA:2429 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... |
ORPHA:2311 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Hypoglycemia, Large for gestational age, Short proximal phalanx of finger... |
OMIM:616638 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Recurrent respiratory infections, Abnormal dental en... |
ORPHA:3253 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Sandal gap, Hypospadias, Kyphosis, Cryptorchidism, Small hand, Gait ata... |
OMIM:300354 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Arrhythmia, Bradycardia |
OMIM:609286 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Pycnodysostosis |
|
Ridged nail, Decreased response to growth hormone stimulation test, Micrognathia, Generalized ost... |
ORPHA:763 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Coarse hair, Narrow greater sciatic notch, Anter... |
OMIM:253220 |
| Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Hypopigmentation of hair, Lymphopenia, Diabetes mellitus, Ataxi... |
ORPHA:100 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, S... |
ORPHA:352447 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Reduced vital capacity, Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Respiratory in... |
ORPHA:178148 |
| Ataxia-Telangiectasia |
|
Sinusitis, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the thymus, Ata... |
OMIM:208900 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Multiple prenatal fractures, Patent ductus arteriosus, Flexion con... |
OMIM:616867 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hypothyroidism, Hypoparathyroidism, Anemia of inadequate production... |
ORPHA:231214 |
| Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Osteoporosis, Female hypogonadism |
ORPHA:397685 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Porokeratosis Of Mibelli |
|
Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Abnormality of skin pigmentation, Hernia, Abnormality of the nai... |
ORPHA:2092 |
| Satoyoshi Syndrome |
|
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Hyperlordosis, Abnormal hair... |
ORPHA:3130 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol... |
ORPHA:189427 |
| Immunodeficiency 9 |
|
Death in infancy, Respiratory insufficiency due to muscle weakness, Hypoplasia of the thymus, Dif... |
OMIM:612782 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal rib morphology, Abnormal form of the vertebral bodi... |
ORPHA:93941 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
| Severe Congenital Nemaline Myopathy |
|
Hypospadias, Increased connective tissue, Multiple prenatal fractures, Flexion contracture, Thin ... |
ORPHA:171430 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation te... |
OMIM:262700 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, 4-5 finger syndactyly, 2-3 finger syndactyly, Abs... |
ORPHA:158687 |
| Alg1-Cdg |
|
Renal insufficiency, Kyphosis, Limitation of joint mobility, Nephrotic syndrome, Respiratory fail... |
ORPHA:79327 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Pes planus, Broad hallux, Hypoglycemia, Tapered finger, Short neck, Short thumb, Micrognathia, Cr... |
OMIM:620224 |
| Partial Atrioventricular Septal Defect |
|
Atrial flutter, Angina pectoris, Transient ischemic attack, Bicuspid aortic valve, Coronary sinus... |
ORPHA:1330 |
| 2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Long eyelashes, Failure to thrive |
ORPHA:163693 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Broad-based gait, Recurrent fractures, Kyphoscoliosis, S... |
OMIM:309583 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, 3-Methylglutaconic aciduria, Failure to thrive, Thrombocytopenia, Iris hypopigmenta... |
ORPHA:67048 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
| Porphyria Cutanea Tarda |
|
Alopecia, Porphyrinuria, Onycholysis, Facial hypertrichosis, Scleroderma, Hyperpigmentation in su... |
OMIM:176100 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Hy... |
OMIM:615632 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Pes planus, Inguinal hernia, Cryptorchidism, Flexion contracture, Osteoporosis, Elbow... |
OMIM:614438 |
| Squalene Synthase Deficiency |
|
Failure to thrive in infancy, Hypospadias, Micrognathia, Bilateral cryptorchidism, Elbow flexion ... |
OMIM:618156 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Hypoglycemia |
OMIM:609016 |
| Costello Syndrome |
|
Deep-set nails, Generalized hyperpigmentation, Failure to thrive in infancy, Abnormal fingernail ... |
ORPHA:3071 |
| Intermediate Nemaline Myopathy |
|
Multiple prenatal fractures, Flexion contracture, Respiratory failure, Difficulty walking, Arthro... |
ORPHA:171433 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Hypoplastic ischia, Increased vertebral heigh... |
ORPHA:2616 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory insufficiency, Respiratory failure, Arthrogryposis multiplex congenita, Beta-aminoiso... |
OMIM:615330 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Cardiac shunt, A... |
ORPHA:860 |
| Incontinentia Pigmenti |
|
Abnormal hand morphology, Abnormality of skin pigmentation, Abnormal toenail morphology, Spina bi... |
ORPHA:464 |
| Idiopathic Congenital Hypothyroidism |
|
Bradycardia |
ORPHA:95717 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Hypoglycemia, Lacticaciduria, Aminoaciduria, Respiratory f... |
OMIM:619386 |
| Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Postaxial hand polydactyly, Pulmonary artery stenosis, Abnormality of the... |
ORPHA:75389 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, Small hand, Obesity, Short foot, Abnorma... |
ORPHA:177910 |
| Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... |
OMIM:619795 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
| Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Sparse hair, Joint laxity, Rhizomelia, Thin nail, Sagittal craniosy... |
OMIM:218330 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
| Pontocerebellar Hypoplasia Type 1 |
|
Ataxia, Congenital laryngeal stridor, Respiratory failure, Arthrogryposis multiplex congenita, Fa... |
ORPHA:2254 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Distal joint laxity, Generalized joint lax... |
ORPHA:1900 |
| Immunodeficiency 12 |
|
Abnormal lymphocyte count, Clubbing, Osteoporosis, Bronchiectasis, Death in adolescence, Decrease... |
OMIM:615468 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Abnormal bone ossification, Cl... |
ORPHA:79324 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Sparse hair, Hypopigmenta... |
ORPHA:2909 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Ma... |
ORPHA:324575 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micrognathia, Knee disl... |
ORPHA:536532 |
| Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cervical kyphosis, Micro... |
OMIM:114290 |
| Idiopathic Achalasia |
|
Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia |
ORPHA:930 |
| Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Inguinal hernia, Short neck, Microgna... |
OMIM:616145 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Syndactyly, Omphalocele, Postaxial polydactyly, Micromelia, Hypoplastic ili... |
OMIM:617895 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Pancytopenia, Aplastic anemia, Crackles, Mediastinal lymphadenopathy, Dyspnea, Premat... |
OMIM:614742 |
| Syndromic Diarrhea |
|
Peripheral pulmonary artery stenosis, Hypopigmentation of hair, Brittle hair, Small for gestation... |
ORPHA:84064 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Hypoglycemia, Cachexia, Micrognathia, Hashimoto thyroiditis, Join... |
ORPHA:109 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Tachycardia, Syncope, Premature ventricular contraction |
OMIM:192445 |
| Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Equinovarus deformity, Kyphosis, Low anterior hairli... |
OMIM:609128 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, Early balding, Nephrolithiasis, Abnorma... |
ORPHA:2067 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor... |
OMIM:605274 |
| Cockayne Syndrome |
|
Dry hair, Urinary incontinence, Congenital contracture, Progressive gait ataxia, Ataxia, Cryptorc... |
ORPHA:191 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Hiatus hernia, Capita... |
OMIM:304150 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Talipes, Short neck, Micrognathia, Synophrys, Patent ductus arteriosus, ... |
OMIM:300990 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Osteomyelitis, Sinusitis, Abnormality of the tonsils, Thrombocytopenia, Abnormal lung m... |
ORPHA:47 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Leu... |
ORPHA:36238 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Congenital hip dislocatio... |
ORPHA:496641 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Reduced forced vital capacity, Achilles tendon contracture, Kne... |
OMIM:620249 |
| Tenosynovial Giant Cell Tumor |
|
Abnormal hip joint morphology, Abnormality of the knee, Joint stiffness, Limitation of joint mobi... |
ORPHA:66627 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Short phalanx of fing... |
ORPHA:221008 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... |
OMIM:225400 |
| Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Short neck, Limited knee flexion, Microgna... |
OMIM:258315 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Micromelia, Kyphosis, Patent ductus arteriosus, Limitation of joint mobility, Resp... |
ORPHA:93274 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera... |
OMIM:307800 |
| Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of ... |
OMIM:600705 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Osteoporosis |
OMIM:204730 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Sandal gap, Hypospadias, Postaxial polydactyly, Hyperlordosis, Micrognathia, Kypho... |
OMIM:615761 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect |
ORPHA:40366 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Bowing of the long bones, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tole... |
ORPHA:2088 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Abnormal limb bone morphology, Fine hair, Melanocytic nevus, Hyp... |
ORPHA:1573 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Respiratory distress, Osteomyelitis, Failure to thrive in infancy, Neutrophilia, Sple... |
OMIM:612852 |
| Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
| Tuberculosis |
|
Cough, Abnormal lung morphology, Weight loss |
ORPHA:3389 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Short femur, Pneumothorax, Glandular hypospadias, Talipes equinovarus, Pulm... |
OMIM:620306 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... |
ORPHA:397596 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Generalized hyperpigmentation, Diabetes mellitus, Osteoporosis, Abnormality of endocrine pancreas... |
ORPHA:79230 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... |
OMIM:618775 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Micrognathia, Epispadias, Clinodactyly of the 5th fing... |
ORPHA:2554 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossificati... |
OMIM:183900 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Sparse hair, Joint contracture, Joint laxity, Respiratory insufficiency, Increased su... |
OMIM:615349 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsu... |
OMIM:309350 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Micromelia, Micrognathia, Abnormal eyelash morphology, Abnormal hair mo... |
ORPHA:2671 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
| Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Reduced circulating growth hormone concentration, H... |
OMIM:262400 |
| Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, Oste... |
OMIM:616507 |
| Marinesco-Sjogren Syndrome |
|
Pes planus, Short metacarpal, Hypergonadotropic hypogonadism, Ataxia, Coxa valga, Kyphosis, Flexi... |
OMIM:248800 |
| Immunodeficiency 102 |
|
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... |
OMIM:301082 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital hip dislocation, Micrognathia, Synophrys, Knee dislocation, Shoulder dislo... |
ORPHA:536545 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Ectopic kidney, Micrognathia, Hypoplastic toenails, Reduced bone mineral ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Osteopenia, Short neck, Ectopic kidney, Micrognathia, Hypoplastic toenails, Reduced bone mineral ... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Short neck, Ectopic kidney, Micrognathia, Hypoplastic toenails, Reduced bone mineral ... |
ORPHA:99226 |
| Turner Syndrome |
|
Osteopenia, Short neck, Ectopic kidney, Micrognathia, Hypoplastic toenails, Reduced bone mineral ... |
ORPHA:881 |
| Idiopathic Hypercalciuria |
|
Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat... |
ORPHA:2197 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Parakeratosis, Flexion contracture, Palmoplantar hyperkeratosis, Congenital ichthyosifo... |
OMIM:242300 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shor... |
OMIM:263520 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... |
OMIM:300718 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Sparse hair, Short phalanx of fing... |
ORPHA:221016 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Down-sloping shoulders, Urinary urgency, Stridor, Hammertoe, Respiratory fa... |
OMIM:606071 |
| Fibrochondrogenesis 1 |
|
Short neck, Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5... |
OMIM:228520 |
| Adams-Oliver Syndrome |
|
Encephalocele, Finger syndactyly, Brachydactyly, Alopecia, Hypoplastic fingernail, Talipes, Abnor... |
ORPHA:974 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia... |
ORPHA:3035 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Pancytopenia, Unilateral renal agenesis, Postaxial polydactyly, Splenomegaly, P... |
OMIM:614576 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Cryptorchidism, Preaxial polydactyl... |
OMIM:603671 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Frank-Ter Haar Syndrome |
|
Inguinal hernia, Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Thickened s... |
ORPHA:137834 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Hypopigmentation of the skin, Hypoglycemia, Cholelithiasis, Tapered finger, Hyperlord... |
OMIM:301066 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells |
OMIM:620282 |
| Classic Mycosis Fungoides |
|
Alopecia, Splenomegaly, Hypopigmented skin patches, Lymphadenopathy, Hyperkeratosis, Irregular hy... |
ORPHA:2584 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Beaded rib... |
OMIM:166210 |
| Masa Syndrome |
|
Hyperlordosis, Kyphosis, Talipes equinovarus, Shuffling gait, Pes cavus, Adducted thumb |
OMIM:303350 |
| Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Proteinuria, Failure to thrive in infancy, Ataxia, Abnormal foo... |
ORPHA:834 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Joint laxity, Recurrent respiratory infections, Pneumonia, Increased connective tissue, Cryptorch... |
ORPHA:98905 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Redu... |
ORPHA:2911 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Craniosynostosis, Kyphoscoliosis, Cryptorchidism, ... |
ORPHA:65759 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis |
ORPHA:276630 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Erythroid hyperplasia, Hy... |
ORPHA:231222 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metatarsal, Sparse hair, Waddling gait, Short metacarpal, Rhizomelia, Cone-shap... |
OMIM:614813 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Kyphosis, Split hand, Unsteady gait, Obesity, Areflexia of lower limbs, Scoliosis, Loss o... |
OMIM:618124 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Waddling gait, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis,... |
OMIM:300280 |
| Gracile Bone Dysplasia |
|
Death in infancy, Asplenia, Micropenis, Hypoplastic spleen, Failure to thrive |
OMIM:602361 |
| Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor... |
OMIM:618019 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Weight los... |
ORPHA:98850 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Tapered finger, Cryptorchidism, Spotty hyp... |
ORPHA:1867 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... |
ORPHA:99103 |
| Scedosporiosis |
|
Bronchial breath sound, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Diabetes mell... |
ORPHA:449280 |
| Lowry-Maclean Syndrome |
|
Osteopenia, Inguinal hernia, Hypospadias, Craniosynostosis, Micrognathia, Bilateral cryptorchidis... |
ORPHA:2409 |
| Marfan Syndrome |
|
Osteopenia, Pes planus, Pulmonary artery dilatation, Arthralgia/arthritis, Arachnodactyly, Protru... |
ORPHA:558 |
| Short Syndrome |
|
Alopecia, Diabetes mellitus, Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, I... |
ORPHA:3163 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Abnormal dental enamel morphology, H... |
ORPHA:2325 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:52416 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfect... |
OMIM:259440 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hypoglycemia |
OMIM:615158 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... |
OMIM:601705 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hypoglycemia |
OMIM:232700 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Kyphosis, Cryptorchidism, Hypopigmente... |
ORPHA:2115 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Ataxia, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron defici... |
OMIM:212750 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Gait disturbance, Abno... |
ORPHA:1875 |
| Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Abnormal long bone morphology, Thickened skin, Li... |
ORPHA:576 |
| Ane Syndrome |
|
Alopecia, Multiple joint contractures, Ulnar deviation of the hand, Decreased response to growth ... |
ORPHA:157954 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
| Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased body weight, Respiratory failure |
ORPHA:890 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae,... |
ORPHA:3404 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Abnormality of the musculature of the lower limbs, Ataxia, Urinary incontinence, S... |
ORPHA:464282 |
| Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger, Joint stiffness, Hepa... |
OMIM:607015 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Broad-based gait, Ataxia, Acanthocytosi... |
ORPHA:14 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,... |
OMIM:102700 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Apneic episodes precipitated by illness, fatigue, stress, Choreoatheto... |
OMIM:312170 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... |
ORPHA:289157 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
| Noonan Syndrome 8 |
|
Curly hair, Large for gestational age, Short neck, Cryptorchidism, Patent ductus arteriosus, Hype... |
OMIM:615355 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Osteolysis, Wei... |
ORPHA:324964 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Allergic rhini... |
ORPHA:90368 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia, Scarring |
OMIM:247100 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Failure to thrive in infancy, Respiratory insufficiency, Hypoglycemia |
ORPHA:6 |
| Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short p... |
OMIM:300602 |
| Cartilage-Hair Hypoplasia |
|
Sparse facial hair, Metaphyseal widening, Coxa vara, Femoral bowing, Short palm, Sparse hair, Neu... |
OMIM:250250 |
| Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Brittle hair, Micrognathia, Metaphyseal widening, Death in childhood, Sparse hair, Hy... |
OMIM:252500 |
| Crandall Syndrome |
|
Alopecia, Hypoplasia of penis, Brittle hair, Fine hair, Hypogonadism, Sparse body hair, Abnormal ... |
ORPHA:202 |
| Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Hypoplasia of the femoral head, Hy... |
OMIM:607014 |
| 19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Sandal gap, Hypospadias, Craniosynostosis, Short neck, Preco... |
ORPHA:254346 |
| Analbuminemia |
|
Patent ductus arteriosus, Recurrent lower respiratory tract infections, Lipodystrophy, Osteoporosis |
OMIM:616000 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, M... |
OMIM:249420 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Renal insufficiency, Proteinuria, Osteoporosis, Stage 5 chronic kidney disease,... |
OMIM:619487 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Hypoplasia of the ulna, Split hand,... |
OMIM:200980 |
| Bathing Suit Ichthyosis |
|
Alopecia, Autoamputation of digits, Multiple joint contractures, Parakeratosis, Thickened skin, P... |
ORPHA:100976 |
| Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... |
ORPHA:140 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... |
ORPHA:3320 |
| Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Osteoporosis, Gait disturbance, Vertebral compression fracture |
ORPHA:85193 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Hyperpigmentation of the skin... |
OMIM:224230 |
| Neuroectodermal Melanolysosomal Disease |
|
Recurrent respiratory infections, Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia... |
ORPHA:33445 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hyperlordosis, Wide anterior fontanel, Glutaric aciduria, Dyspnea, Inability to wal... |
ORPHA:26791 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Micrognathia, Thrombo... |
OMIM:259720 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
| Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Brittle hair, Small for gestational age, Trichoschisis, Asthma, Flexion contrac... |
OMIM:601675 |
| Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Absent eyebrow, Curly hair, Slow-growing hai... |
OMIM:115150 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Cardiomegaly, Third he... |
ORPHA:1329 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosiform... |
OMIM:613576 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
| Tetanus |
|
Hypertension, Tachycardia, Bradycardia |
ORPHA:3299 |
| Avian Influenza |
|
Respiratory distress, Lymphopenia, Miscarriage, Pneumonia, Ground-glass opacification, Productive... |
ORPHA:454836 |
| Leigh Syndrome |
|
Multiple joint contractures, Choreoathetosis, Complex organic aciduria, Neutropenia, Frontal hirs... |
ORPHA:506 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short neck, Sparse hair, Dystrophic fingernails, Abnormal morphology of ulna, Abnor... |
ORPHA:1340 |
| Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Ataxia, Kyphosis, Increased urinary O-linked si... |
ORPHA:812 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteopenia, Osteoporosis, Dysmetria, Gait ataxia, Difficulty walking |
ORPHA:529665 |
| X Small Rings |
|
Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper... |
ORPHA:96201 |
| Lysinuric Protein Intolerance |
|
Recurrent fractures, Thrombocytopenia, Oroticaciduria, Splenomegaly, Osteoporosis, Stage 5 chroni... |
OMIM:222700 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... |
ORPHA:373 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Neutropenia, Mo... |
ORPHA:95455 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Recurrent respiratory infections, Sparse eyebrow, Hypothyroidism, Fi... |
ORPHA:1882 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint mobility, Coxa vara, H... |
OMIM:313400 |
| Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Recurrent respiratory infections, Ungual fibroma, Atelectasis, Dyspnea, E... |
ORPHA:538 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ataxia |
OMIM:618637 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300554 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... |
OMIM:219080 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Abnormality of retinal pigmentation, Cachexia, Abnormality of the thyroid glan... |
ORPHA:1969 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Joint laxity, Long toe, Inguinal hernia, Omphalocele, Overlapping toe, Large placenta, Flexion co... |
ORPHA:254528 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Pulmonary hypoplasia |
OMIM:619887 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Micrognathia, Flexion contracture, Knee flexion contracture, Aspirati... |
ORPHA:2020 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Fasting hyperinsu... |
OMIM:619489 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyp... |
ORPHA:79395 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Equinovarus deformity, Equinus calcaneus, Decre... |
ORPHA:746 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Atelectasis, L... |
OMIM:618278 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Thin nail, Hypergranulosis, Abnormal hair morphology, Short toe, Hyperkeratosis, Congen... |
OMIM:242100 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Brittle hair, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Inab... |
OMIM:617988 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Arachnodactyly, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Type II diabete... |
ORPHA:412057 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Death in childhood, Loss of ambulation,... |
OMIM:615838 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
| Otospondylomegaepiphyseal Dysplasia |
|
Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal... |
ORPHA:1427 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia |
OMIM:616812 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
| X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Ectopic kidney, Hypospadias, Kypho... |
ORPHA:3063 |
| Solitary Fibrous Tumor |
|
Low back pain, Hypoglycemia, Weight loss, Neoplasm of the lung, Recurrent hypoglycemia, Neoplasia... |
ORPHA:2126 |
| Glass Syndrome |
|
Inguinal hernia, Broad-based gait, Arachnodactyly, Anterior tibial bowing, Apnea, Micrognathia, L... |
OMIM:612313 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Vertebral segmentation defect, Clinodactyly of the... |
ORPHA:1507 |
| Harlequin Ichthyosis |
|
Recurrent respiratory infections, Limitation of joint mobility, Respiratory insufficiency, Hyperk... |
ORPHA:457 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hypopigmentation of the skin, Absent eyebrow, Alopecia, Hemolytic anemia, Thickened s... |
OMIM:263700 |
| Rabson-Mendenhall Syndrome |
|
Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying ... |
ORPHA:769 |
| Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Micromelia, Short neck, Micrognathia, Dyspnea... |
ORPHA:3015 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Hypoglycemia, Ataxia, Hypothyroidism, Cryptorchidism, S... |
OMIM:617575 |
| Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, T lymphocytopenia, B lymphocytopenia, Failure to thrive, Reduced natural killer... |
OMIM:618108 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat... |
OMIM:610915 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Split hand, Apnea, Respiratory failure |
ORPHA:168486 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, ... |
ORPHA:91348 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Thickened skin, Fine hair, Weight loss, Ly... |
ORPHA:2221 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Arachnodactyly, Limited wrist extension, Reduced forced expi... |
OMIM:108145 |
| Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea, Proximal placement of thumb, Short neck, Hyperlordosis, Kyp... |
OMIM:314580 |
| Fraser Syndrome 2 |
|
Unilateral renal agenesis, Short neck, Low anterior hairline, Renal hypoplasia, Cutaneous syndact... |
OMIM:617666 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
| Pachyonychia Congenita |
|
Respiratory distress, Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular ... |
ORPHA:2309 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Irregular... |
OMIM:143095 |
| Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
| Typical Nemaline Myopathy |
|
Waddling gait, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Flexion contracture, Hip dis... |
ORPHA:171436 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Epiphyseal stippling, Respiratory failure, Renal cyst, Death in infancy |
OMIM:614862 |
| Stickler Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Protrusio acetabuli, Cachexia, Micrognathia, Ab... |
ORPHA:828 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,... |
OMIM:206920 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Hypospadias, Talipes, Severe generalized osteoporosis, Kyphoscoliosis, Micrognat... |
OMIM:210730 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Synophrys, Small hand, Short foot, Long eyelash... |
ORPHA:238750 |
| Werner Syndrome |
|
Low back pain, Diabetes mellitus, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral den... |
OMIM:277700 |
| Myopathy, Centronuclear, 2 |
|
Waddling gait, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Kyphosis, Flexion... |
OMIM:255200 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, T l... |
ORPHA:508533 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Hypoglycemia, Apnea, Jo... |
OMIM:609069 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
| Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Autoamputation of digits, Parakeratosis, Flexion contracture, Periorifi... |
OMIM:614594 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Akinesia, Micrognathia, Thrombocytopenia, Splenomegaly, Hepatospleno... |
OMIM:608013 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Inguinal hernia, Spinal rigidity, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypov... |
OMIM:620326 |
| Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Alopecia, Joint stiffness, Mediastinal lymphadenopathy, Splenomegaly, Dyspnea, ... |
ORPHA:809 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Bradycardia |
OMIM:614498 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hyperphosphaturia, Proteinuria, Ataxia, Respiratory insufficiency due to mu... |
OMIM:220110 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Alopecia, Osteomyelitis, Eosinophilia, Micrognathia, Recurrent ... |
OMIM:618282 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Kyphosis, Inability to walk, Small hand, Gait ataxia, ... |
ORPHA:3095 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Tachypnea, Reduced bone mineral density, Cough, Emphysema, Joint laxity, Respiratory ... |
OMIM:613658 |
| Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Hypoglycemia, Hypoplastic toenails, Histidinuria, Sh... |
ORPHA:2158 |
| Glutamine Deficiency, Congenital |
|
Bradycardia |
OMIM:610015 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Mediastinal lymphadenopathy, Weight loss... |
ORPHA:83469 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Pituitary null cell a... |
ORPHA:97289 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Hypopigmentation of hair, Partial albinism, Neutropenia |
ORPHA:90023 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Joint stiffness, Short neck, Hyperlordosis, Achilles ten... |
ORPHA:98863 |
| Bloom Syndrome |
|
Bronchitis, Micrognathia, Adipose tissue loss, Paronychia, Hypopigmentation of the skin, Decrease... |
ORPHA:125 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Palmoplantar ... |
OMIM:605676 |
| Kinsship Syndrome |
|
Osteopenia, Short neck, Micrognathia, Synophrys, Dislocated radial head, Death in infancy, Renal ... |
OMIM:619297 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Respiratory distress, Elevated circulating thyroid-stimulating hormone concen... |
ORPHA:209905 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss, Anemia |
ORPHA:298 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Gait disturbance, Scolios... |
ORPHA:2181 |
| Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Absent th... |
ORPHA:392 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Apnea, Bilateral cryptorchi... |
OMIM:602535 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Hypospadias |
ORPHA:1355 |
| Necrotizing Enterocolitis |
|
Shock, Bradycardia, Hypotension, Abnormal heart morphology |
ORPHA:391673 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Hypoglycemia, Gait imbalance, Ankle flexion contracture |
OMIM:618120 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Positional foot ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Calcaneovalgus deformity, Positional foot ... |
ORPHA:363958 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Overlapping toe, Genu recurvatum, Apnea, Flexion contracture, Elbo... |
OMIM:617301 |
| Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Med... |
ORPHA:133 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
| Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Bradycardia, Cerebral hemorrhage |
OMIM:617397 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
| Kabuki Syndrome 2 |
|
Joint laxity, Highly arched eyebrow, Micrognathia, Neonatal hypoglycemia, Hip dislocation, Horses... |
OMIM:300867 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Hydroureter, Wide anterior fontanel, Respiratory failure, Hydronephrosis |
OMIM:618240 |
| Dpagt1-Cdg |
|
Arachnodactyly, Lipodystrophy, Ataxia, Akinesia, Thickened skin, Inability to walk, Flexion contr... |
ORPHA:86309 |
| 46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Arachnodactyly, Ataxia, Sparse pubic hair, Increased circulating gonado... |
ORPHA:243 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneous fat, Corneal scarring, Death ... |
OMIM:610965 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Digeorge Syndrome |
|
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... |
OMIM:188400 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achille... |
OMIM:607155 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Early ossification of capital femoral epiphyses, Renal cyst, Hypoplastic iliac wing, Nephritis, S... |
OMIM:208500 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Short fourth metatarsal, Short fifth metatarsal, Alopecia, Clinodactyly of the 5th toe, Trichorrh... |
OMIM:261990 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... |
ORPHA:3226 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Abnormal rib morphology, Abnormal... |
ORPHA:2522 |
| Zygomycosis |
|
Renal insufficiency, Diabetes mellitus, Sinusitis, Epistaxis, Fasciitis, Cough, Atelectasis, Medi... |
ORPHA:73263 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Kyphosis, Synophrys, Gait disturbance, Scoliosis, Hypertrichosis |
ORPHA:85317 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Micrognathia |
ORPHA:446 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal fingertip morphology, Micrognathia, Abnor... |
ORPHA:90154 |
| Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Micrognathia, Acanth... |
OMIM:218040 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Micrognathia, Flexion contracture, Osteoporosis, Scoliosis, Failure to thrive |
OMIM:615851 |
| Hyperthyroidism, Familial Gestational |
|
Tachycardia |
OMIM:603373 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyph... |
ORPHA:2976 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Respiratory distress, R... |
OMIM:615512 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Failure to thrive in infancy, Recurrent pneumonia, Clubbing, Bronchiectasis, ... |
OMIM:301220 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Failure to thrive, Decreased proport... |
OMIM:618048 |
| Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Syno... |
ORPHA:2162 |
| Sotos Syndrome |
|
Joint laxity, Pes planus, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Long metacarp... |
OMIM:117550 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... |
OMIM:616005 |
| Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia, Short neck, Precocious puberty, Short foot, Broad foot, Short palm, Campto... |
OMIM:301032 |
| Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Hypoglycemia, Large for gestational age, Cry... |
OMIM:619075 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Reticulated skin pigmentation, Pterygium of nails, Premature graying of hair, Leukop... |
OMIM:305000 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Lympha... |
OMIM:304790 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Microcytic anemia, Abnormal... |
ORPHA:232 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Rocker bottom foot, Unil... |
OMIM:619951 |
| Cohen Syndrome |
|
Micrognathia, Low anterior hairline, Abnormality of skin pigmentation, Neutropenia, Clinodactyly ... |
ORPHA:193 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Absent frontal sinuses, Atelectasis, Asplenia, Absent outer dynein arms, Bronchiectasi... |
OMIM:244400 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Organic aciduria, Hypoglycemia |
OMIM:614741 |
| Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Recurrent sinopulmonary infections, Recurrent respiratory infections, Hem... |
ORPHA:647 |
| Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendo... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendo... |
ORPHA:98853 |
| Felty Syndrome |
|
Sinusitis, Neutropenia, Abnormal lymphocyte morphology, Recurrent pharyngitis, Lymphadenopathy, P... |
ORPHA:47612 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... |
OMIM:612576 |
| Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... |
ORPHA:668 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Lipodystrophy, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendo... |
ORPHA:98855 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Congenital foot contractures, Ankle clonus, Tip-toe gait, Scoliosis, Loss of ambu... |
ORPHA:565624 |
| Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Hypoglycemia, Gait ataxia, Scoliosis, Intrauterine growth retardation |
OMIM:616355 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Pulmonary cyst, Inguinal hernia, Large for gestational age, Micrognathia, Wide ant... |
OMIM:618272 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Absent fingernail, Ne... |
OMIM:609638 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Weight loss, Increased... |
ORPHA:100083 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Lacticaciduria, Hyperglycinu... |
OMIM:605711 |
| Trisomy 13 |
|
Abnormal eyelash morphology, Kyphosis, Postaxial hand polydactyly, Cryptorchidism, Abnormal rib m... |
ORPHA:3378 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic aciduria, Failure to thrive, Hypoglycemia, Methylmalonic aciduria |
ORPHA:289504 |
| Marden-Walker Syndrome |
|
Inguinal hernia, Arachnodactyly, Hypospadias, Short neck, Micrognathia, Wide anterior fontanel, K... |
OMIM:248700 |
| Becker Nevus Syndrome |
|
Lipoatrophy, Hypermelanotic macule, Micromelia, Lower limb asymmetry, Supernumerary nipple, Kypho... |
ORPHA:64755 |
| Diffuse Alveolar Hemorrhage |
|
Respiratory failure requiring assisted ventilation, Proteinuria, Ground-glass opacification, Thro... |
ORPHA:90060 |
| Hemifacial Atrophy, Progressive |
|
Ataxia, Poliosis, Kyphosis, Patchy alopecia, Short mandibular rami |
OMIM:141300 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Talipes,... |
ORPHA:1647 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Decreased testicular size, Recurrent respiratory infections, Micrognathia, Cryptorchidism, Flexio... |
OMIM:300534 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Curly hair, Increased bone mineral density, Broad femoral neck, Short tubular bones o... |
ORPHA:85184 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Alopecia, Tapered toe, Sparse eyelashes, Sparse scalp hair, Tapere... |
ORPHA:544488 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Recurrent fractures, Micrognathia, Sparse eyebrow, Abnormality of hai... |
ORPHA:2108 |
| Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebr... |
OMIM:230650 |
| Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Ataxia, Wide anterior fontanel, Flexion contracture, Renal cortical cysts, Hype... |
OMIM:609180 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Tapered finger, Sparse eyebrow, Gait disturbance, Scoliosis, Pes pl... |
ORPHA:261349 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Ureteral duplication, Hypopigmentation of hair, Arachnodactyly, Hypospadias, Ab... |
ORPHA:96169 |
| Acquired Ichthyosis |
|
Hyperkeratosis, Renal insufficiency, Palmoplantar keratoderma, Ichthyosis |
ORPHA:454 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Choreoathetosis, Respiratory fai... |
ORPHA:445038 |
| Fountain Syndrome |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal dyspl... |
ORPHA:3219 |
| Classic Homocystinuria |
|
Sparse scalp hair, Abnormality of retinal pigmentation, Arachnodactyly, Recurrent fractures, Join... |
ORPHA:394 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Achilles tendon contracture, Calf muscle hypertrophy, Respiratory failure... |
OMIM:603689 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Lymphopenia, Renal insufficiency, Stiff neck, Crackles, Atelectasis, Leukoc... |
ORPHA:319213 |
| Indolent Systemic Mastocytosis |
|
Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short neck, Micrognathia, Kyphosis, Obesity, Respiratory insufficiency, Type II ... |
ORPHA:3191 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Inguinal hernia, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa... |
ORPHA:3342 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Small for gestational age, Hypospadias, Decreased response to growth hormone stimulat... |
ORPHA:96182 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Thickened skin, ... |
OMIM:617809 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Camptodactyly of finger, Patchy alopecia, Nail dystrophy, Enamel hypoplas... |
OMIM:226650 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Pes planus, Curly hair, Hypospadias, Large for gestational age, Cryptorchidism, Asthma, Hypopigme... |
ORPHA:457485 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
| Poikiloderma With Neutropenia |
|
Joint laxity, Plantar hyperkeratosis, Micrognathia, Joint stiffness, Sparse eyebrow, Recurrent br... |
OMIM:604173 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Arachnodactyly, Long foot, Micrognathia, Dyspnea, Respirato... |
ORPHA:2707 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Alopecia, Ataxia, Tachypnea, Weight loss, Organic aciduria, Thrombocytopenia |
ORPHA:79242 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Renal insufficiency, Hyperphosphaturia, Primary hyperparathyroidism, Hypercalciuria, ... |
ORPHA:99879 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
| Pleural Mesothelioma |
|
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... |
ORPHA:50251 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Absent circulating B cells, Abnormal T cell morphology |
OMIM:613500 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Emanuel Syndrome |
|
Recurrent respiratory infections, Sacral dimple, Congenital hip dislocation, Inguinal hernia, Uni... |
OMIM:609029 |
| Omodysplasia 2 |
|
Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Anterior wedging of T11, Fibular hypopl... |
OMIM:164745 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... |
OMIM:259770 |
| Classic Hodgkin Lymphoma |
|
Ataxia, Splenomegaly, Osteolysis, Respiratory insufficiency, Lymphadenopathy, Weight loss, Bone m... |
ORPHA:391 |
| Lethal Congenital Contracture Syndrome 2 |
|
Akinesia, Micrognathia, Respiratory failure, Arthrogryposis multiplex congenita, Hydronephrosis |
OMIM:607598 |
| Galactokinase Deficiency |
|
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Neonatal asphyxia, Hyper... |
ORPHA:79237 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,... |
ORPHA:89936 |
| Crisponi Syndrome |
|
Death in infancy, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitatio... |
ORPHA:1545 |
| Mucolipidosis Iii Gamma |
|
Short neck, Flat capital femoral epiphysis, Joint stiffness, Hyperlordosis, Kyphosis, Genu valgum... |
OMIM:252605 |
| Bartsocas-Papas Syndrome 1 |
|
Short neck, Ectopic kidney, Micrognathia, Bilateral cryptorchidism, Flexion contracture, Hypoplas... |
OMIM:263650 |
| Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Thick hair, Apnea, Micrognathia, Short tibia, Adactyly, Broad fi... |
ORPHA:2751 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar... |
OMIM:619208 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I dia... |
ORPHA:276580 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Small for gestational age, Hypoglycemia, Death in adolescence, Aminoaciduria, S... |
OMIM:619055 |
| Tibial Muscular Dystrophy |
|
Respiratory failure, Steppage gait, Difficulty walking, Peroneal muscle atrophy |
ORPHA:609 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypoglycemia, Ataxia, Death in childhood |
OMIM:246900 |
| O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Kyphosis, Tapered finger |
OMIM:618512 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, Tapered finger, Cryptorchidism, Patchy alopecia, Talipes equinovarus, Sh... |
ORPHA:85279 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... |
ORPHA:90652 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hyperflexibility, Kyphosis, Gait disturbance, Hypertrichosis |
OMIM:614898 |
| Orofaciodigital Syndrome Type 1 |
|
Brittle hair, Micrognathia, Reduced bone mineral density, Coarse hair, Sparse hair, Clinodactyly ... |
ORPHA:2750 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Reduced vital capacity, Orthopnea, Restrictive ventilatory defect, Respi... |
ORPHA:98913 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Ataxia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumoni... |
ORPHA:420741 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Atrophic scars, Nail dystrophy |
OMIM:131850 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Chilblain Lupus |
|
Hyperkeratosis, Finger swelling, Asthma, Chronic myelomonocytic leukemia |
ORPHA:90280 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Microretrognathia, Decreased testicular size, Sacral dimple, Toe syndactyly, Hypospadias, Inguina... |
ORPHA:459070 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chr... |
OMIM:613845 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, T lymphocyto... |
OMIM:607944 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Synophrys, Inability to w... |
OMIM:618443 |
| Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypoglycemia, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Increased body weigh... |
ORPHA:264580 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Short neck, Micrognathia, Generalized joint laxity, Tibial bowing, Sparse hair, Clino... |
ORPHA:251028 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platelets, Neu... |
OMIM:169400 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis, Ichthyosis, Aspirat... |
OMIM:610768 |
| Monosomy 18P |
|
Alopecia, Kyphoscoliosis, Micrognathia, Short neck, Low posterior hairline, Hypothyroidism, Brach... |
ORPHA:1598 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Bradycardia |
ORPHA:226313 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Ankylosis, Thickened skin, Osteolysis, Neoplasm of the ... |
ORPHA:659 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Ketotic hypoglycemia, Splenomegaly, Osteoporosis, Increased body weight, Polycystic ovaries, Rena... |
ORPHA:79240 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Spastic gait, Reduced bone mineral densi... |
ORPHA:3079 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Waddling gait, Hyperphosphaturia, Osteomalacia, Decrease... |
ORPHA:157215 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern... |
ORPHA:1488 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:619004 |
| Infantile Krabbe Disease |
|
Respiratory distress, Cachexia, Hypopigmented skin patches, Ankle clonus, Respiratory failure, Fa... |
ORPHA:206436 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Pancytopenia, Broad-based gait, Cachexia, Abnorm... |
ORPHA:2072 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Miscarriage, Follicular hyperkeratosis, Sparse lateral eyebrow |
ORPHA:3406 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Splenomegaly, Osteopetrosis, Reduced renal corticomedullary differentia... |
OMIM:618541 |
| Pyridoxine-Dependent Epilepsy |
|
Neonatal asphyxia, Neonatal respiratory distress, Hypoglycemia |
ORPHA:3006 |
| Monosomy 22 |
|
Finger syndactyly, Aplasia of the thymus, Short neck, Thickened skin, Synophrys, Clubbing, Hypoch... |
ORPHA:96123 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Kyphosis, Increased skull ossification, Craniofacial osteoscler... |
OMIM:618476 |
| Lathosterolosis |
|
Toe syndactyly, Bilobate gallbladder, Increased mean platelet volume, Lumbosacral meningocele, Mi... |
OMIM:607330 |
| Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism, Alopecia, Congenital hip dislocation, Orbital encephalocele |
OMIM:164180 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Abnormal fingernail morphology, Asthma, Bronchiectasis, Respirato... |
ORPHA:1164 |
| Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia, Unsteady gait, Gait ataxia |
OMIM:618158 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Alopecia, Abnormal eyebrow morphology, Absent eyelashes, Ins... |
ORPHA:90153 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Renal insufficiency, Dysuria, Hypogonadotropic hyp... |
ORPHA:35687 |
| Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Pes planus, Pancytopenia, Sandal gap, Abnormal finger flexion ... |
OMIM:210600 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Kyphosis, Gait disturbance, Scoliosis, Pes cavus |
ORPHA:101075 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Broad ribs, Anterior wedging o... |
OMIM:253200 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
| Primrose Syndrome |
|
Bilateral cryptorchidism, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone ... |
OMIM:259050 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Peroneal muscle weakness, Hyperlordosis, Metatarsus adductus, Kyphosis, Peronea... |
OMIM:181405 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Absence of pubertal development |
OMIM:615267 |
| Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Micrognathia, Hypoplastic toenails, Abnormal form of the vertebr... |
ORPHA:904 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Patent ductus arteriosus, Limitation of joint mobility, Osteoporosis, Clubbing, Osteo... |
OMIM:259100 |
| Familial Thyroid Dyshormonogenesis |
|
Bradycardia |
ORPHA:95716 |
| Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Large for gestational age, Micrognathia, Kyphosis, Patent ductu... |
ORPHA:314588 |
| Giant Cell Arteritis |
|
Renal insufficiency, Alopecia, Ataxia, Epistaxis, Abnormal pleura morphology, Joint stiffness, Re... |
ORPHA:397 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, Micropenis, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Urinary inc... |
OMIM:301041 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Alopecia, Obesity, Hirsutism |
OMIM:604931 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
| Srd5A3-Cdg |
|
Ataxia, Decreased response to growth hormone stimulation test, Microcytic anemia, Abnormal hair m... |
ORPHA:324737 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Adrenal hypoplasia, Micrognathia, Flexion contracture, Overtubulated long b... |
OMIM:275210 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| X-Linked Creatine Transporter Deficiency |
|
Joint hyperflexibility, Athetosis, Ataxia, Cachexia |
ORPHA:52503 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... |
OMIM:227270 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
| Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Osteolysis, ... |
ORPHA:3474 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Resp... |
OMIM:614922 |
| Wolman Disease |
|
Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency, Anemia |
ORPHA:75233 |
| Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Alopecia, Fine hair, Hematuria, Hyperkeratosis, Pulmonary fibro... |
ORPHA:1839 |
| Oculopharyngodistal Myopathy |
|
Tibialis muscle weakness, Respiratory insufficiency due to muscle weakness, Weight loss, Restrict... |
ORPHA:98897 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Inability to walk, 3-Methylglutaconic aciduria, Failure to thrive, Hypoglycemia |
OMIM:614739 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Neonatal hypoglycem... |
ORPHA:168558 |
| Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Diabetes mellitus, Osteoporosis |
OMIM:601811 |
| Koolen-De Vries Syndrome |
|
Positional foot deformity, Vesicoureteral reflux, Prominent fingertip pads, Iris hypopigmentation... |
OMIM:610443 |
| Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, C... |
ORPHA:53271 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Hyperphosphaturia, Hypoparathyroidism, Wad... |
OMIM:156400 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Increased susceptibility to fractures, Reduced bone m... |
ORPHA:561 |
| Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Inability to walk, Hyperkeratosis, Steppage gait, Gait imbalance, Cough, Pathologi... |
ORPHA:36386 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoplastic fifth toenail, Congenital hip dislocation, Hypoglycemia, Ataxia, Supernumerary nipple... |
ORPHA:457279 |
| Xp21 Deletion Syndrome |
|
Joint laxity, Hypogonadotropic hypogonadism, Osteoporosis, Primary adrenal insufficiency, Reduced... |
ORPHA:261476 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hypoglycemia, Wide anterior fontanel, Glutaric aciduria, Generalized aminoa... |
OMIM:231680 |
| Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Alopecia, Thoracic scoliosis, Apnea, Thrombocytopenia, Hep... |
ORPHA:79330 |
| Spinocerebellar Ataxia Type 1 |
|
Dysmetria, Progressive cerebellar ataxia, Respiratory failure, Dysdiadochokinesis, Gait disturban... |
ORPHA:98755 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Diabetes mellitus, Ataxia, Osteoporosis, Respiratory insufficiency, Absent Achil... |
ORPHA:254892 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Nephrolith... |
OMIM:606407 |
| Mucopolysaccharidosis, Type Ii |
|
Abnormality of retinal pigmentation, Inguinal hernia, Short neck, Heparan sulfate excretion in ur... |
OMIM:309900 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Asthma, Short foot, Hip dy... |
ORPHA:500055 |
| Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Unsteady gait, Small hand, Short foot, Ankle clonus, Scoliosis |
OMIM:617435 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Pes planus, Arachnodactyly, Sandal gap, Hypospadias, Repeated pneu... |
OMIM:617602 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Hypoplastic toenails, Abnormal tibia morphology, Synophrys, Low anterio... |
ORPHA:251014 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Preaxial hand polydactyly, Multiple cafe-au-lait spot... |
ORPHA:2316 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Unsteady gait, Failure to thrive, Hypoglycemia |
ORPHA:79096 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis, Delayed puberty |
OMIM:615270 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fas... |
ORPHA:276575 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Talipes, Alopecia totalis, Absent thumb, Aplasia/Hypoplasia of... |
ORPHA:1234 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Thickened skin, Hypoplasia of the thymu... |
ORPHA:436252 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Angulated humerus, Bowing of the long bones, Multiple rib fractures, Small for gestat... |
OMIM:616229 |
| Leprechaunism |
|
Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypoglycemia, Fasting hy... |
ORPHA:508 |
| Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Epispadias, Hemivertebrae, Coxa vara, ... |
ORPHA:3107 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
| Shox-Related Short Stature |
|
Short neck, Micrognathia, Obesity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, L... |
ORPHA:314795 |
| Amish Lethal Microcephaly |
|
Death in infancy, Spina bifida, Micrognathia, Limitation of joint mobility, Osteoporosis, Organic... |
ORPHA:99742 |
| Bazex Syndrome |
|
Parakeratosis, Yellow nails, Lip hyperpigmentation, Hyperkeratosis, Palmoplantar keratoderma, Nai... |
ORPHA:166113 |
| Systemic Sclerosis |
|
Flexion contracture, Alopecia, Thickened skin, Finger swelling, Pulmonary fibrosis, Acute kidney ... |
ORPHA:90291 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Joint hyperflexibility, Failure to thrive, Kyphosis |
ORPHA:319199 |
| Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Alopecia, Hypospadias, Diabetes mellitus, Abnormal hair pa... |
ORPHA:2315 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
| Chromomycosis |
|
Ankylosis, Abnormal lung morphology, Abnormality of the lower limb, Abnormal foot morphology, Ost... |
ORPHA:182 |
| 6Q Terminal Deletion Syndrome |
|
Joint laxity, Aplasia/Hypoplasia of the ribs, Hallux valgus, Hypospadias, Highly arched eyebrow, ... |
ORPHA:75857 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Hyperinsulinemia, Increased body weight, Renal Fanconi sy... |
ORPHA:263455 |
| Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Heparan sulfate excretion in urine, Osteo... |
OMIM:615273 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Dysmetria, Hypoalbuminemia, Steatorrhea, Thrombocytosis, Hypocholesterolemia |
OMIM:212065 |
| Gm1-Gangliosidosis, Type I |
|
Death in infancy, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Splenom... |
OMIM:230500 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Hypoglycemia, Ataxia |
ORPHA:2394 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Nephrocalcinosis, Premature graying of hair, Early onset of sexu... |
OMIM:194050 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... |
OMIM:274000 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Ataxia, Decreased response to growth hormone stimulation test, Craniosynostosis, Wide a... |
OMIM:601853 |
| Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac w... |
OMIM:260660 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormality of the vertebral spinous processes, Ataxia, Hypothyroidism, Abnormal tibi... |
ORPHA:909 |
| Osteoglophonic Dysplasia |
|
Osteopenia, Respiratory distress, Short neck, Hypoplastic toenails, Short metatarsal, Short palm,... |
OMIM:166250 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Alveolar Echinococcosis |
|
Low back pain, Abnormal pelvis bone morphology, Pulmonary cyst, Eosinophilia, Ataxia, Pancreatic ... |
ORPHA:284 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Rhizomelia, Short nec... |
OMIM:108721 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Hypoglycemia, Alopecia totalis, Decreased response to growth hormone stimulation t... |
OMIM:615577 |
| Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum ... |
OMIM:618187 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Expanded metacarpals with widened medullary cavi... |
OMIM:182250 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, Intrauterine growth retardation, Failure to thrive, Hyperpigmentation of ... |
ORPHA:50812 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Death in infancy, Hypoventilation, Inguinal hernia, Hypoglycemia, Elbow contracture, Knee contrac... |
OMIM:620275 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Palmoplantar keratoderma, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Alopecia, Anemia, Lymphadenopathy |
ORPHA:100025 |
| 17Q11 Microdeletion Syndrome |
|
Osteopenia, Bowing of the legs, Abnormal lung morphology, Elevated circulating parathyroid hormon... |
ORPHA:97685 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia, Micrognathia, Absence of subcutaneous fat, Osteolysis, Generalized osteoporosis |
OMIM:176670 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Abnormal limb bone morphology,... |
ORPHA:85435 |
| Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Pedal edema, Le... |
ORPHA:96253 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Short neck, Micrognathia, Short metatarsal, Renal cyst, Nephron... |
OMIM:266920 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Waddling gait, Kyphoscoliosis, Silver-gray hair, Hip dislocation, Horseshoe kidney, Multiple lent... |
ORPHA:101003 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... |
OMIM:213980 |
| Silver-Russell Syndrome 2 |
|
Micrognathia, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Intrauterine growth retardation... |
OMIM:618905 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Diabetes mellitus, Abnormal dental enamel morphology, Kyphoscoliosis, Trichiasis,... |
OMIM:601701 |
| Cystic Echinococcosis |
|
Multiple pulmonary cysts, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Eosinophil... |
ORPHA:400 |
| Sézary Syndrome |
|
Alopecia, Abnormal pleura morphology, Splenomegaly, Lymphadenopathy, Palmoplantar keratoderma, Na... |
ORPHA:3162 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Rhizomelia, Ataxia, Neonatal hypoglycemia, Micrognathia, Flexion contractur... |
OMIM:616271 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Hypospadias, Bilateral cryptorchidism, Ichthyosis, Micropenis |
OMIM:618840 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... |
OMIM:612287 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... |
OMIM:612286 |
| Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia |
ORPHA:221098 |
| Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenism, Kyphosis, O... |
ORPHA:77259 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Abnormality of skin pigmentation, Hyperkeratosis, Ichthyosis, Failure to thriv... |
OMIM:612379 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Highly arched eyebrow |
OMIM:609384 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibrosis,... |
ORPHA:79259 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Large for gestational age, Ricke... |
OMIM:616026 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Failure to thrive, Hypoglycemia, Aciduria |
OMIM:617950 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Micrognathia, Low anterior hairline, Absent distal phalanges, Short middle phalanx of f... |
OMIM:614219 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Enlarged tonsils, Abnormal circulating insuli... |
ORPHA:293964 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel morpho... |
ORPHA:2050 |
| Lymphatic Malformation 12 |
|
Neonatal respiratory distress, Inguinal hernia, Pleural thickening, Death in adolescence, Hydroce... |
OMIM:620014 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypospadias, Joint hypermobility, Hypogonadotropic hypogonadism, Kyphosis, Cryptorchi... |
OMIM:619718 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Ataxia, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity, ... |
OMIM:616353 |
| Chand Syndrome |
|
Curly hair, Short fifth metatarsal, Hydroureter, Ataxia, Atelectasis, Nail dysplasia |
ORPHA:1401 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Low back pain, Alopecia, Ataxia, Urinary incontinence, Gait apraxia, Dysmetria, Gait disturbance |
OMIM:600142 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia |
OMIM:614653 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hypoplastic toenails, Synoph... |
ORPHA:444077 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, Scoliosis, Delayed puberty, Distichiasis, Anemia |
ORPHA:2598 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Respiratory failure, Intrauteri... |
OMIM:620327 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Apnea, Aspiration pneumonia, Vesicoureteral reflux, Hypothyroidism, Joint laxity, Hyp... |
ORPHA:438213 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Kyphosis, Gait disturbance, Scoliosis, Pes cavus |
ORPHA:101078 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Finger syndactyly, Hypospadias, Sparse eyebrow, 2-3 toe syndactyly... |
ORPHA:464738 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni... |
OMIM:271510 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Renal insufficiency, Membranoproli... |
OMIM:137940 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hyperconvex fingernails, Sparse hair, Abnormal vertebral morphology, Abnormality of the nail, Abs... |
ORPHA:2273 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Reduced bone mineral density, Decreased serum estradiol, Decreased circulating androgen concentra... |
ORPHA:90796 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Macrocytic anemia, H... |
ORPHA:199299 |
| Keutel Syndrome |
|
Recurrent respiratory infections, Alopecia, Pulmonary artery stenosis, Recurrent sinusitis, Pulmo... |
ORPHA:85202 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Hemolytic anemia, Autoimmune hemolytic anemia, Failure to thriv... |
OMIM:606367 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Osteoporosis, Obesity, Gait ataxia, Hypoplasia of the o... |
OMIM:615300 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Palmoplantar keratoderma, Clubbing of toes, Weight loss |
ORPHA:2198 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Inguinal hernia, Asthma, Hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythrod... |
OMIM:614457 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Hypospadias, Micrognathia, Preaxial hand polydactyly, Postaxial ha... |
OMIM:236680 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
B lymphocytopenia, Abnormal T cell morphology |
OMIM:612692 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Nephrotic syndrome, Aplasia/Hypoplasia of t... |
ORPHA:238468 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... |
OMIM:602088 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Palmoplantar keratoderma, Ichthyosis, Failure to thrive, Abnormality of the nail |
ORPHA:79394 |
| Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Hemolytic anemia, Recurrent intrapulmonary hemorrhage, Abnormal... |
ORPHA:906 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Joint stiffness, Atypical scarring of skin, Palmoplantar keratoderma, Nail dyst... |
ORPHA:1366 |
| Huntington Disease-Like 2 |
|
Gait disturbance, Weight loss |
ORPHA:98934 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Death in infancy, Macrocytic anemia, Ataxia, Splenomegaly, Failure to thrive, Neonatal hypoglycemia |
OMIM:619046 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Kyphosis, Synophrys, Unsteady gait, Scoliosis, Hirsutism |
OMIM:300861 |
| Zimmermann-Laband Syndrome 2 |
|
Thick eyebrow, Short neck, Kyphosis, Synophrys, Widow's peak, Long eyelashes, Anonychia, Hirsutis... |
OMIM:616455 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory... |
OMIM:614299 |
| Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenitis, Recurrent upper re... |
ORPHA:51636 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Unsteady gait, Absent pubic hair, Hypogonadism, Gene... |
ORPHA:2269 |
| Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Curly hair, Epidermal hyperkeratosis, Short neck, Low posterior hairline,... |
OMIM:613707 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hemivertebrae, Emphysema, Absent gallbladder, Lumbar hyperlordosis, Ara... |
ORPHA:500150 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Cryptorchidism, Patent ductus arteriosus, Multilobulated spleen, Renal hypopla... |
OMIM:601186 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Alopecia, Autoimmune hemolytic anemia, Recurrent pneumonia, C... |
OMIM:616576 |
| Dowling-Degos Disease |
|
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... |
ORPHA:79145 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Loss of ambulation, Weight loss, Knee flexion contracture, Pigmentary retinopathy, Vesico... |
ORPHA:3208 |
| Degcags Syndrome |
|
Osteopenia, Micrognathia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature... |
OMIM:619488 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Ankle clonus, Respiratory failure, Difficulty walking |
OMIM:613954 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Alopecia, Proteinuria, Dyspnea, Lymphadenopathy, Hematuria, Arth... |
ORPHA:93552 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th... |
OMIM:208540 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty... |
OMIM:276820 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Alopecia, Cryptorchidism, Fine hair, Hypogonadism, Intrauterine growth retardation... |
ORPHA:228390 |
| Hepatoerythropoietic Porphyria |
|
Osteopenia, Hemolytic anemia, Scarring, Scarring alopecia of scalp, Erythroid hyperplasia, Loss o... |
ORPHA:95159 |
| Myofibrillar Myopathy 10 |
|
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... |
OMIM:619040 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Functional abnormality of the bladder |
ORPHA:71211 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-pos... |
ORPHA:169154 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysp... |
ORPHA:352540 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, Polycystic kidney dysplasia, Failure t... |
OMIM:608776 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
| Incontinentia Pigmenti |
|
Ridged nail, Hemivertebrae, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Atrophic,... |
OMIM:308300 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Death in infancy, Short neck, Large for gestational age, Micrognathia, Patent du... |
OMIM:300868 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuse... |
OMIM:119600 |
| Microsporidiosis |
|
Osteomyelitis, Sinusitis, Pneumonia, Cachexia, Bronchitis, Abnormality of the spleen, Abnormality... |
ORPHA:2552 |
| Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, P... |
ORPHA:192 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Respiratory insufficiency, Pigmentary retinopathy, Respiratory failure... |
OMIM:609015 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Ground-glass opacification,... |
ORPHA:1302 |
| Granulomatous Disease, Chronic, X-Linked |
|
Osteomyelitis, Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Air bronchogram, Ly... |
OMIM:306400 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Ataxia, Respiratory failure, Type I diabetes mellitus, Loss of ambulation |
OMIM:620166 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Short neck, Palmoplantar keratoderma, Nail dystrophy, Finger joint hypermobility, ... |
OMIM:615225 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Palmoplantar hyperkeratosis, Hyperkera... |
OMIM:300918 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebro... |
OMIM:129400 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Alopecia, Female hypogonadism, Cholelithiasis, Decreased circulating parathyr... |
OMIM:240300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Small for gestational age, Episodic tachypnea, Hypoglycemia |
OMIM:615160 |
| 3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypoplastic fingernail, Hypospadias, Recurrent respirator... |
ORPHA:7 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Abnormal dental enamel morphology, Micr... |
ORPHA:1798 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Atrichia, Periungual erythema, Death in childhood, Neonatal death, Dystr... |
OMIM:308205 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Scarring, Hyperkeratosis, Atrophic scars, Nail dystrophy, Abnormal toenail morphology |
ORPHA:89843 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology, Ataxia, Respiratory failure |
ORPHA:1861 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Microretrognathia, Sacral dimple, Ataxia, Short neck, Kyphosis, Talipes cavus equinov... |
OMIM:300966 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Respiratory failure |
OMIM:613435 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Increased circulating renin level, Prem... |
ORPHA:90791 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Fasting hyperinsulinemia, Reactive hypoglycemi... |
ORPHA:35878 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Epispadias, Abnormal finger morphology, Symphalangism affecting the phalanges of the hand, Hyperc... |
ORPHA:2658 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Aminoaciduria, Weight loss |
ORPHA:79238 |
| Prolactinoma |
|
Osteopenia, Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated ... |
ORPHA:2965 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short nail, Short neck, Kyphosis, Cone-shaped epiphyses of t... |
ORPHA:420794 |
| Cowden Syndrome |
|
Abnormal penis morphology, Generalized hyperkeratosis, Ataxia, Follicular thyroid carcinoma, Enla... |
ORPHA:201 |
| Czech Dysplasia |
|
Narrow femoral neck, Waddling gait, Short metacarpal, Flat capital femoral epiphysis, Short toe, ... |
OMIM:609162 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Pes planus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestati... |
ORPHA:457359 |
| Brittle Cornea Syndrome 1 |
|
Joint laxity, Congenital hip dislocation, Red hair, Atypical scarring of skin, Scoliosis, Palmopl... |
OMIM:229200 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Curly hair, Sparse scalp hair, Inguinal hernia, Large for gestationa... |
OMIM:607721 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Urinary incontinence, Kyphosis, Spastic gait, Ankle clonus, Scoliosis, Upper limb dysmetria, Pes ... |
OMIM:614409 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Parakeratosis, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia,... |
ORPHA:83617 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Hypoglycemia, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi... |
OMIM:232200 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
| Netherton Syndrome |
|
Sparse scalp hair, Recurrent respiratory infections, Brittle hair, Parakeratosis, Brittle scalp h... |
OMIM:256500 |
| Lymphatic Filariasis |
|
Lymphadenitis, Abnormal lung morphology, Knee osteoarthritis, Cough, Lymphangiectasis, Ankle swel... |
ORPHA:2035 |
| Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Synophrys, Flexion contracture, Abnormal form of the vertebral bodies, Reduced bone ... |
ORPHA:581 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Death in childhood, Melanin... |
OMIM:256710 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
| Relapsing Polychondritis |
|
Renal insufficiency, Alopecia, Proteinuria, Atelectasis, Dyspnea, Limitation of joint mobility, H... |
ORPHA:728 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Osteoporosis, Nephrolithiasis, Gout... |
OMIM:232220 |
| Mgat2-Cdg |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Abn... |
ORPHA:79329 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Hyperkeratosis, H... |
ORPHA:281090 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Hypoventilation, Kyphosis, Inability to walk, Recurrent pneumonia, Elbow flexion... |
OMIM:618493 |
| Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Scarring alopecia of scalp, Red-brown urine, Leukopenia, Erythroid hype... |
ORPHA:79277 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong... |
OMIM:602400 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Thoracic scoliosis, Knee contracture, Respiratory failure... |
OMIM:620278 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure |
OMIM:618233 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Vesi... |
OMIM:604292 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Structural foot deformity, Renal cyst... |
ORPHA:464306 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Arachnodactyly, Camptodactyly of finger, Tapered finger, Meta... |
ORPHA:2215 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Sparse scalp hair, Alopecia, Absent eyebrow, Absent eyelashes, Abnormalit... |
ORPHA:69735 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Small for gestational age, Cryptorchidism, Respiratory failure, Death in childhood, Micropenis |
OMIM:619847 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Diabetic ketoacidosis, Respiratory failure,... |
ORPHA:70578 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... |
ORPHA:411703 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Pes planus, Hypospadias, Proximal placement of thumb, Short neck, Tapered f... |
ORPHA:251071 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:143 |
| Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
| Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Fair hair, Hypospadias, Inguinal hernia, Hyperpigmented/hypopigmented macules, Cryp... |
OMIM:620331 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Hypoglycemia, Dysmetria, Athetosis, Intrauterine growth retardation, Thrombocytopenia |
OMIM:617710 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Hypopigmentation of the skin, Iris h... |
ORPHA:411515 |
| Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
| Immunodeficiency 70 |
|
Decreased proportion of CD4-positive helper T cells, B lymphocytopenia |
OMIM:618969 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Precocious puberty, Short toe, Asthma, Dentinogenesis imperfecta, Obesity, Cone-shape... |
OMIM:619269 |
| D-Glyceric Aciduria |
|
Bradycardia |
OMIM:220120 |
| Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Abnormality of the plantar skin o... |
ORPHA:83313 |
| Spondyloenchondrodysplasia |
|
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Decreas... |
ORPHA:1855 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hypoglycemia, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubul... |
OMIM:251000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Short neck, Tibial bowing, Hypoplasia of first ribs, Broad ribs,... |
OMIM:269150 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Hyperkeratosis with erythema, Knee flexion contracture, Epiphyseal stippling, Co... |
OMIM:118650 |
| Singleton-Merten Syndrome 2 |
|
Osteopenia, Hyperkeratosis, Scoliosis, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
| Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypopla... |
ORPHA:95496 |
| Stickler Syndrome, Type I |
|
Arachnodactyly, Joint stiffness, Micrognathia, Kyphosis, Osteoarthritis, Irregular femoral epiphy... |
OMIM:108300 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Kyphosis, Postaxial hand pol... |
ORPHA:2916 |
| Cdags Syndrome |
|
Sparse scalp hair, Porokeratosis, Hypospadias, Sparse eyelashes, Sagittal craniosynostosis, Recto... |
OMIM:603116 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Renal cyst, Micropenis, Pelvic kidney, Abnormality of the cervical spine, Hypospadias, Tapered fi... |
ORPHA:464311 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate... |
OMIM:119800 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, Wide anterior fontanel, Hypoplastic nip... |
OMIM:230740 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Weight loss, Increased susceptibility to fractures, Pigmentary retinopathy, Ti... |
ORPHA:216866 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratode... |
ORPHA:312 |
| Cystinosis, Nephropathic |
|
Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy... |
OMIM:219800 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Neonatal respiratory distress, Highly arched eyebrow, Microgn... |
OMIM:619005 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Failure to thrive, Absent circulating B cells |
OMIM:619693 |
| Leukodystrophy, Hypomyelinating, 24 |
|
B lymphocytopenia |
OMIM:619851 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Neonatal respiratory distress, Elevated urine suberic acid level, Hypoglycemia, Methylmalonic aci... |
OMIM:248360 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis,... |
OMIM:615821 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... |
ORPHA:90363 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Abnormality of skin pigmen... |
ORPHA:84 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Subcutaneous lipoma, Cachexia, Patent ductus arteriosus, Clubbing of fingers, ... |
ORPHA:79076 |
| Snakebite Envenomation |
|
Epistaxis, Respiratory failure, Respiratory paralysis, Hypopituitarism, Acute kidney injury, Thro... |
ORPHA:449285 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Hypopigmentation of hair, Partial albinism, Epistaxis, Abnormal dental ename... |
ORPHA:79430 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Pes planus, Craniosynostosis, Hyperventilation, Kyphosis, Hypertrichosis, Contracture of the prox... |
OMIM:618050 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Asthma, Gr... |
OMIM:619377 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of the cervical spine, Ankle swelling,... |
ORPHA:85408 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Proteinuria, Kyphosis, Chronic kidney disease, Low anterior hairline, Obesity, Ve... |
ORPHA:261222 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Pes planus, Arachnodactyly, Scoliosis, Slender build, Neonatal hypoglycemia |
OMIM:617600 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyro... |
ORPHA:227982 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Alopecia, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytope... |
ORPHA:227990 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ... |
OMIM:617821 |
| Lamellar Ichthyosis |
|
Recurrent respiratory infections, Renal insufficiency, Hyperkeratosis, Ichthyosis, Sparse hair, A... |
ORPHA:313 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, Clinodactyly of the 5th fi... |
OMIM:300373 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Ga... |
ORPHA:98794 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pes planus, Urinary incontinence, Tapered finger, Unilateral radial aplasia, Partial absence of t... |
ORPHA:476126 |
| Acromelic Frontonasal Dysplasia |
|
Encephalocele, Hypopituitarism, Anterior pituitary hypoplasia, Midline central nervous system lip... |
ORPHA:1827 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Diffuse alveolar hemorrhage, Hematemesis, Myocarditi... |
ORPHA:99827 |
| Cockayne Syndrome A |
|
Dry hair, Ivory epiphyses of the phalanges of the hand, Abnormality of skin pigmentation, Square ... |
OMIM:216400 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hematuria, Coarse hair, Nail dystrophy, N... |
OMIM:158310 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Hypoglycemia, Ataxia, Leukocytosis, Tachypnea, Weight loss, Cough, Thrombocytosis, Hyp... |
ORPHA:134 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Precocious puberty, Fine hair, Woolly scalp hair, Co... |
ORPHA:79414 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Anterior pituitary h... |
ORPHA:177907 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Abnormal hair morphology,... |
ORPHA:894 |
| Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scoliosis, Me... |
ORPHA:2479 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Proximal placement of thumb, Kyphosis, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:615433 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Medullary thyroid carcinoma, Kyphosis,... |
OMIM:162300 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, ... |
ORPHA:470 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop... |
OMIM:148700 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Inability to walk, Dystonic gait, Respiratory failure, Difficulty walking, Failure to thrive |
ORPHA:280210 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Edema of the dorsum of feet, Apnea, Rocker bottom foot, ... |
ORPHA:521426 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Sandal gap, Tapered finger, Micrognathia, Kyphosis, Synophrys, Patent ductus arter... |
OMIM:617061 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Bifid fe... |
ORPHA:2769 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Apnea, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Kyphosis, Respirato... |
OMIM:617527 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Hypergonadotropic hypogonadism, Tarsal synostosis, Elevate... |
OMIM:609441 |
| Pfapa Syndrome |
|
Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis |
ORPHA:42642 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Diarrhea 13 |
|
Recurrent hypoglycemia, Failure to thrive |
OMIM:620357 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Renal insufficiency, Decreased circulating cortisol level, Hypoglycemia, Spars... |
ORPHA:95409 |
| Hemochromatosis, Neonatal |
|
Intrauterine growth retardation, Hypoglycemia, Hepatocellular necrosis |
OMIM:231100 |
| Hardikar Syndrome |
|
Vesicoureteral reflux, Bladder exstrophy, Thoracolumbar scoliosis, Pulmonary artery stenosis, Par... |
OMIM:301068 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Maternal diabetes, Hemivertebrae, ... |
OMIM:134780 |
| Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Osteoporosis, Pulmonary arte... |
ORPHA:2326 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Neurogenic bladder, Inguinal hernia, Short neck, Micrognathia, Kyphosis, Crypto... |
OMIM:130720 |
| Dietary Iron Overload Disease |
|
Diabetes mellitus, Abnormal thyroid morphology, Abnormal pancreas morphology, Osteoporosis, Incre... |
ORPHA:139507 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut... |
ORPHA:699 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Orthokeratos... |
OMIM:607626 |
| Reticular Dysgenesis |
|
Recurrent respiratory infections, Abnormality of neutrophils, Weight loss, Leukopenia, Failure to... |
ORPHA:33355 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Crypt... |
OMIM:614736 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Palmoplantar keratoderma, Ichthyosis, Sparse hair, Failure to thrive, Fragile nails |
OMIM:242150 |
| Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Hyperphosphaturia, Proteinuria, Osteomalacia, Thrombocytope... |
OMIM:277900 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma,... |
OMIM:612843 |
| Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
| Sarcoidosis |
|
Abnormal lung morphology, Increased T cell count, Nephrocalcinosis, Tubulointerstitial nephritis,... |
ORPHA:797 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Dysmetria, Gait ataxia, Limb ataxia, Scoliosis, Pes cavus |
OMIM:610743 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Autoamputation of digits, Broad-based gait, Hypoglycemia, Ataxia, Osteomyel... |
OMIM:256810 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Ureterocele, Spar... |
OMIM:129900 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations |
OMIM:188580 |
| Riboflavin Deficiency |
|
Dicarboxylic aciduria, Hypoglycemia |
OMIM:615026 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Apnea, Elevated circulating growth hormone concentration, Large for gestational age, N... |
ORPHA:79644 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Pes valgus, Weight loss |
OMIM:620045 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Sparse axillary hair, Reduced circulating pro... |
ORPHA:91355 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Patent ductus arteriosus, Hypopnea, 3-Methylglutaric aciduria, 3-Methylg... |
OMIM:617248 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Abnormal tibia morphology, Foot oligod... |
ORPHA:2879 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:95494 |
| Kid Syndrome |
|
Sparse eyelashes, Equinus calcaneus, Coxa valga, Scarring alopecia of scalp, Sparse eyebrow, Pate... |
ORPHA:477 |
| Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Micrognathia, Structural foot defo... |
ORPHA:1662 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Recurrent fractures, Kyphosis, Thin ribs, Platyspondyly, Lambdoida... |
OMIM:616294 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Adult Syndrome |
|
Finger syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse scalp hair, Breast hypoplasia,... |
ORPHA:978 |
| Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Loss of ambulation, Abnormal concentration of acylcarnitine in the urine, Hypogl... |
ORPHA:391428 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Thymus hyperplasia, Neonatal respiratory distress, Arachnodactyly, Micrognathia... |
OMIM:619036 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... |
ORPHA:79153 |
| Cerebrotendinous Xanthomatosis |
|
Ataxia, Osteoporosis, Respiratory insufficiency, Ankle clonus, Difficulty walking, Cholelithiasis |
OMIM:213700 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Hyperlordosis, Hypophosphaturia, Micrognathia, Synophrys, Abnormality o... |
ORPHA:73223 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Tachycardia |
OMIM:221400 |
| Fucosidosis |
|
Generalized hyperkeratosis, Lipoatrophy, Kyphosis, Mucopolysacchariduria, Anterior beaking of lum... |
ORPHA:349 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Knee flexion contracture, Abnormal calc... |
OMIM:271665 |
| Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Neonatal asphyxia, Asthma, Generalized ichthyosis, Follicular hyperkeratosis, ... |
OMIM:608649 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Patent d... |
OMIM:106260 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Joint stiffness, Micrognathia, Kyphosis... |
ORPHA:2510 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, Respiratory insufficiency, Respiratory failure, 3-Methylglutaconic aciduria, Bile d... |
OMIM:618329 |
| Cockayne Syndrome Type 2 |
|
Ataxia, Hypermelanotic macule, Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Gait dist... |
ORPHA:90322 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Eosinophilia, Abnormal ple... |
ORPHA:183 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia |
ORPHA:79159 |
| Glycogen Storage Disease Iii |
|
Hypoglycemia |
OMIM:232400 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Anemia, 3-Methylgluta... |
OMIM:246450 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Small for gestational age, Hypoglycemia, Intrauterine growth retardation, Failure t... |
OMIM:617093 |
| Adrenoleukodystrophy |
|
Alopecia, Urinary incontinence, Primary adrenal insufficiency, Limb ataxia, Hypogonadism, Truncal... |
OMIM:300100 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Dicarboxylic aciduria, Recurrent hypoglycemia, Impaired gluconeogenesis, Fa... |
OMIM:212140 |
| Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Cough, Abnormal salivary gland morphology, Emphysema, Mediastinal ly... |
OMIM:181000 |
| Quinquaud Folliculitis Decalvans |
|
Abnormal hair morphology, Scarring alopecia of scalp, Patchy alopecia, Scarring |
ORPHA:346 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Obesity |
OMIM:620195 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Cachexia, Renal salt wasting, Bone-marrow foam cells, Hypersplenism, Vacuo... |
ORPHA:275761 |
| Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia |
ORPHA:664 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Hemivertebrae, Femoral bowing, Micropenis, Decreased circul... |
OMIM:201750 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Leukocytosis, Flexion contracture, Renal hypoplasia, Genu valgum, Abdominal obesity, Hy... |
OMIM:619321 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... |
ORPHA:289176 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Pes planus, Genu recurvatum, Kyphosis, Cryptorchidism, Scoliosis, Micropenis, Slend... |
ORPHA:364028 |
| Propionic Acidemia |
|
Organic aciduria, Hypoglycemia |
ORPHA:35 |
| Atrophoderma Vermiculata |
|
Atrophic scars, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Pes planus, Respiratory failure, Failure to thrive, Abnormality of hair texture |
ORPHA:88618 |
| Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Ataxia, Bone-marrow foam cells, Splenomegaly, Re... |
OMIM:607625 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Hyperpigmentation of the skin, Scarring, Craniosynostosis, Depigmentation/hyperpigmenta... |
ORPHA:79396 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Gait ataxia, Weight loss, Progressive cerebellar ataxia |
ORPHA:248111 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Split hand, Vertebral segmentation defect, Foot polydactyly, Phocomelia |
ORPHA:3004 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Genu recurvatum, Lower limb asymmetry, Splenomegaly, Abnormality of the parat... |
ORPHA:2969 |
| Wilson Disease |
|
Back pain, Thrombocytopenia, Splenomegaly, Increased body weight, Weight loss, Arthritis, Difficu... |
ORPHA:905 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive... |
ORPHA:94093 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Pyruvate Carboxylase Deficiency |
|
Athetosis, Hypoglycemia, Proximal renal tubular acidosis |
OMIM:266150 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Flexion contracture, Abnormality of skin pigmentation, Cough, Alopecia, Thickened skin... |
ORPHA:99921 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Dyspnea, Chronic pulmonary obstruction, Abnormal femur morpholo... |
ORPHA:324 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Follicular hyperkeratosis, Sparse hair, Pili torti |
OMIM:607903 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Calf muscle hypertrophy, Kyphosis, Elbow flexion contracture, Waddling gait |
OMIM:618138 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Ric... |
OMIM:227810 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hy... |
ORPHA:3143 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Ureteral duplication, Linear hyperpigmentation, Congenital hip dislocation, Brittle ... |
OMIM:305600 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Recurrent ... |
OMIM:610682 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Lymphadenopathy, Neoplasm of the lung, W... |
ORPHA:142 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthe... |
ORPHA:99867 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Abnormal fingernail morphology, Dumbbell-shaped... |
ORPHA:3144 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypoventilation, Ataxia, Aciduria, Osteoporosis, 3-Methylglutaconic aciduria, Bile duct prolifera... |
OMIM:203700 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Elbow flexion contracture, Corneal scarring, Absent... |
OMIM:148210 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micropenis, Ovarian gonadoblast... |
ORPHA:251510 |
| Sepsis In Premature Infants |
|
Tachycardia, Bradycardia, Hypotension |
ORPHA:90051 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
| Huntington Disease-Like 1 |
|
Dysmetria, Gait ataxia, Abnormal shoulder morphology, Weight loss, Gait disturbance |
ORPHA:157941 |
| Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Osteomyelitis, Ataxia, Kyphosis, Gait ataxia, Pigmentary... |
ORPHA:88628 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Cachexia, Short palm |
ORPHA:3217 |
| Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Osteoarthritis, Reduced bone mineral density, Dystrophic fingernails, Limitation of... |
ORPHA:740 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... |
ORPHA:94086 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... |
OMIM:164900 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Kyphosis, Gait disturbance, Scoliosis, Pes cavus |
ORPHA:99014 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short metatar... |
OMIM:216340 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, B lymphocytopenia |
ORPHA:70593 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology... |
ORPHA:2908 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Pleural effusion |
ORPHA:545 |
| Acromegaly |
|
Osteoarthritis, Wide penis, Synophrys, Pituitary prolactin cell adenoma, Acanthosis nigricans, Ab... |
ORPHA:963 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Death in infancy, Hypospadias, Hypoglycemia, Apnea, Ataxia, Splen... |
OMIM:252010 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:86893 |
| Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormality of the lower limb, Weight loss |
ORPHA:2023 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome |
OMIM:201910 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Flexion contracture, Hemivertebrae, Absent gallbladder, Sparse eyebrow,... |
OMIM:617140 |
| Cystic Fibrosis |
|
Osteopenia, Recurrent respiratory infections, Sinusitis, Reduced forced expiratory volume in one ... |
ORPHA:586 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Prominent interphalangeal joints, Gait... |
OMIM:135900 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Pulmonary artery atresia, Short neck, Micrognathia, Kypho... |
OMIM:616894 |
| Localized Scleroderma |
|
Abnormal skin adnexa morphology, Fasciitis, Hyperpigmentation of the skin, Thickened skin, Flexio... |
ORPHA:90289 |
| Xeroderma Pigmentosum |
|
Craniofacial hyperostosis, Alopecia, Ataxia, Hypermelanotic macule, Cryptorchidism, Thickened ski... |
ORPHA:910 |
| Griscelli Syndrome Type 2 |
|
Hypopigmentation of hair, Pancytopenia, Partial albinism, Splenomegaly, Pulmonary infiltrates, Pr... |
ORPHA:79477 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Short neck, Micrognathia, Renal cyst, Tibial bowing, Broad ribs, Micropenis... |
ORPHA:798 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Sparse eyelashes, Micrognathia |
OMIM:616367 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Pes planus, Failure to thrive, Membranoproliferative glomerulonephritis, Inguinal hernia, Microgn... |
OMIM:619525 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Cryptorchidism, Spinal canal st... |
ORPHA:1724 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Pigment... |
ORPHA:71212 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Pes planus, Hypoplasia of penis, Decrease... |
ORPHA:478 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ureteral stenosis, Arachnodactyly, Inguinal hernia, Ataxia, Abnormal th... |
ORPHA:2719 |
| Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial n... |
ORPHA:340 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Rhabdoid Tumor |
|
Respiratory insufficiency, Lymphadenopathy, Hematuria, Anemia, Weight loss, Thrombocytopenia |
ORPHA:69077 |
| Phakomatosis Pigmentokeratotica |
|
Spina bifida, Precocious puberty, Cryptorchidism, Melanocytic nevus, Unilateral renal hypoplasia,... |
ORPHA:2874 |
| Noonan Syndrome 2 |
|
Curly hair, Micrognathia, Sparse eyebrow, Short neck, Cryptorchidism, Patent ductus arteriosus, L... |
OMIM:605275 |
| Lymphatic Malformation 4 |
|
Pedal edema, Hydrocele testis, Hyperkeratosis, Cellulitis, Toenail dysplasia |
OMIM:615907 |
| Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Hypoglycemia, Hemolytic-uremic syndrome, Leukocytosis, U... |
ORPHA:810 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Abnormal pattern of respiration, Hypercalciuria, Reduce... |
ORPHA:428 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Primary hyp... |
ORPHA:99880 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Kyphosis, Highly arched eyebrow, Crypt... |
ORPHA:404440 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Increased urinary glycerol, Hypoglycemia, Episodic tachypnea, Intermittent ... |
ORPHA:348 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Apnea, Ataxia, Splenomegaly, Dyspnea, Renal cyst, Respira... |
OMIM:615636 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Multiple pulmonary cysts, Accessory spleen, Failure to thrive in infancy, Hypo... |
OMIM:619418 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop... |
ORPHA:2885 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Thyr... |
ORPHA:171 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:617571 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Neonatal death, Intrauterin... |
OMIM:618835 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Congenital diaphragmatic hernia, Short n... |
OMIM:601803 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Decreased circulating cortisol level, Hypoglycemia, Neonatal death, Intrauterin... |
OMIM:618839 |
| Malignant Hyperthermia, Susceptibility To, 5 |
|
Tachycardia |
OMIM:601887 |
| Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Increased urinary glycerol, Small for gestational age, Hypoglycemia, C... |
OMIM:307030 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Ataxia, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone min... |
ORPHA:2720 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Autoimmune thrombocytopenia... |
ORPHA:391487 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Hypoglycemia, Apnea, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive... |
OMIM:210200 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Abnormality of retinal pigmentation, Failure to thrive, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
| Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Premature adrena... |
ORPHA:90794 |
| Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
| Noonan Syndrome 14 |
|
Pes planus, Curly hair, Short neck, Sparse eyebrow, Kyphosis, Cryptorchidism, Low posterior hairl... |
OMIM:619745 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ichthyosis |
OMIM:242510 |
| Wolf-Hirschhorn Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Hyperconvex fingernails, Intrauterine growth... |
OMIM:194190 |
| Isolated Complex I Deficiency |
|
Diabetes mellitus, Hypoglycemia, Ataxia, Respiratory insufficiency, Proximal tubulopathy, Intraut... |
ORPHA:2609 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Osteopenia, Pes planus, Inguinal hernia, Waddling gait, Kyphoscoliosis, Patent ductus arteriosus,... |
OMIM:614557 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Hyperkeratosis, Onycholysis |
ORPHA:525 |
| Nocardiosis |
|
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Lymphadenitis, Nonproductive co... |
ORPHA:31204 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Kyphosi... |
ORPHA:2075 |
| Listeriosis |
|
Back pain, Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Ataxia, Pyelo... |
ORPHA:533 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Flexion contracture, Corneal scarring, Atrophic scars, Nail dystrophy, Nail dysplasia, ... |
OMIM:226600 |
| Somatomammotropinoma |
|
Osteoarthritis, Synophrys, Pituitary prolactin cell adenoma, Acanthosis nigricans, Abnormal toena... |
ORPHA:314769 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia... |
OMIM:620005 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Paroxysmal dyspnea, Respiratory failure, Failure to thrive |
ORPHA:444013 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Intrauterine growth retardation, Respiratory failure, Death in infancy |
OMIM:610678 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Kyphoscoliosis |
OMIM:618339 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Inter... |
OMIM:620296 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Kyphosis, Cr... |
ORPHA:568 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragma... |
ORPHA:818 |
| Hypoadrenocorticism, Familial |
|
Apnea, Hypoglycemia, Adrenal hypoplasia, Abnormality of skin pigmentation, Adrenal insufficiency |
OMIM:240200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Recurrent upper respiratory tract infections, Hypoglycemia |
OMIM:620137 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Clinodactyly of the 5th finger, Hypot... |
ORPHA:1606 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Patchy hypopigmentation of hair, Short ne... |
ORPHA:233 |
| Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Generalized hyperpigmentation, Abnormal circulating renin, ... |
OMIM:202200 |
| Loeys-Dietz Syndrome 2 |
|
Micrognathia, Joint laxity, Syndactyly, Arachnodactyly, Patent ductus arteriosus, Osteoporosis, S... |
OMIM:610168 |
| Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Absent atrioventricular node, Myocardial calcificati... |
OMIM:234700 |
| Lipoid Proteinosis |
|
Recurrent respiratory infections, Scarring, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute kidney injury, Decreased urine... |
ORPHA:542323 |
| Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Respiratory failure, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... |
ORPHA:26793 |
| Polymyositis |
|
Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Weight loss, Arthritis, Ga... |
ORPHA:732 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Hypospadias, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Scoliosis, Spars... |
OMIM:616449 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Thromboc... |
ORPHA:3322 |
| Noonan Syndrome 10 |
|
Curly hair, Short neck, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Hyperkeratosis,... |
OMIM:616564 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria, Failure to thrive |
OMIM:210210 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... |
ORPHA:308552 |
| Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ... |
ORPHA:3337 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Asthma, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Enamel hypoplasia, Anonychia |
OMIM:616029 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Spontaneous, recurrent epistaxis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair, Hypogonadism |
ORPHA:123 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger, Short umbilical cord, Thick eyebrow |
OMIM:618367 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Cryptorchidism, Ichthyosis |
ORPHA:461 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Reduced bone mineral density, Shoulder dislocation, Corneal scarring,... |
ORPHA:404454 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Linear hyperpigmentation, Subcutaneous lipoma, Cryptorchidism, Lipoma, Pelvic kidney, M... |
OMIM:613001 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Abnormality of the... |
ORPHA:1556 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Brachydactyly |
OMIM:608624 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital bullous ich... |
OMIM:607602 |
| Kleefstra Syndrome 2 |
|
Kyphosis, Thick eyebrow, Scoliosis |
OMIM:617768 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Small for gestational age, Hypoglycemia, Tapered finger, Micrognathia, Talipes equinovarus, Short... |
OMIM:614501 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Bowing of the long bones, Apnea, Recurrent fractures, Craniosyn... |
ORPHA:667 |
| Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Patent ... |
ORPHA:3384 |
| Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Cr... |
ORPHA:2789 |
| Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Lipoatrophy, Lack of facial subcutaneous fat, Lymp... |
ORPHA:90156 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Pes planus, Arachno... |
OMIM:616914 |
| Alexander Disease |
|
Osteopenia, Diabetes mellitus, Ataxia, Hyperlordosis, Short neck, Kyphosis, Precocious puberty, R... |
ORPHA:58 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Death in infancy, Dicarboxylic aciduria, Exercise-induced myoglobinuria,... |
OMIM:201475 |
| Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Hypermelanotic macule, Multinodular goiter, Palmoplantar keratoderma, Hypomelanotic mac... |
OMIM:618373 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, ... |
ORPHA:79408 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Plantar hyperkeratosis, Dry hair, Thin nail, Short nail, Hypergra... |
OMIM:257980 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, B... |
OMIM:242700 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Inguinal hernia, White hair, Fine hair, Reduced bone mineral de... |
ORPHA:935 |
| Yao Syndrome |
|
Asthma, Nephrolithiasis, Weight loss, Arthritis, Pleuritis |
OMIM:617321 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Reactive Arthritis |
|
Osteomyelitis, Abnormal pleura morphology, Joint stiffness, Respiratory insufficiency, Weight los... |
ORPHA:29207 |
| Orthostatic Hypotension 1 |
|
Joint hypermobility, Reduced circulating prolactin concentration, Nocturia, Neonatal hypoglycemia... |
OMIM:223360 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
B lymphocytopenia |
OMIM:614069 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Spinal... |
ORPHA:2062 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Weigh... |
OMIM:143880 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Immunodeficiency 43 |
|
Reduced natural killer cell count, B lymphocytopenia, Lung abscess |
OMIM:241600 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Renal insufficiency, Ketonuria, Hypoglycemia, Ataxia, Megaloblastic anemia,... |
ORPHA:79282 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Abnormality of the knee, Parakeratosis, Palmoplantar hyperkeratosis, Generalized reticulate brown... |
ORPHA:158681 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronis... |
ORPHA:171876 |
| Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Aplastic anemia, Hypocholesterolemia |
OMIM:223370 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Myelomeningocel... |
OMIM:311200 |
| Tyrosinemia, Type I |
|
Renal insufficiency, Hypoglycemia, Splenomegaly, Nephrocalcinosis, Anemia, Renal Fanconi syndrome... |
OMIM:276700 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Hypoglycemia |
OMIM:261750 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
| Chanarin-Dorfman Syndrome |
|
Alopecia, Ataxia, Congenital nonbullous ichthyosiform erythroderma |
OMIM:275630 |
| Pseudomyxoma Peritonei |
|
Hernia, Lymphadenopathy, Respiratory insufficiency, Weight loss |
ORPHA:26790 |
| Takayasu Arteritis |
|
Weight loss, Arthritis, Pulmonary arterial hypertension, Abnormal pattern of respiration, Anemia |
ORPHA:3287 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Arachnodactyly, Camptodacty... |
ORPHA:2461 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Ataxia, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in childhood |
OMIM:617186 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Inability to walk, Flexion contracture, Absent Achilles reflex, Ankle clonus, Scoliosis... |
OMIM:609541 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contracture, Bone cyst, O... |
ORPHA:3042 |
| Immunodeficiency 31C |
|
Osteopenia, Recurrent respiratory infections, Impaired lymphocyte transformation with phytohemagg... |
OMIM:614162 |
| Kaposi Sarcoma |
|
Generalized lymphadenopathy, Hypermelanotic macule, Abnormality of the lower limb, Abnormal lung ... |
ORPHA:33276 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulation, Weigh... |
ORPHA:747 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
| Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, Coxa vara, Sparse hair, Microretrognathia, Wide anterior ... |
OMIM:278250 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo... |
ORPHA:273 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Hemivertebrae, Gonadotropin ... |
OMIM:214800 |
| Cog8-Cdg |
|
Failure to thrive, Hypoglycemia, Ataxia |
ORPHA:95428 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hypoglycemia, Micrognathia, Recurrent upper respiratory tract infections, High anterior hairline,... |
OMIM:233600 |
| Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, L... |
OMIM:615387 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Kyphoscoliosis, Coxa valga, Tapered finger, Kyphosis, Absent frontal sinuses, Crypto... |
OMIM:301040 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Cachexia, Weight loss, Areflexia of lower limbs, Slender build |
OMIM:603041 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Short neck... |
ORPHA:96176 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Kyphosis, Patent ductus arteriosus, Low anterior hairline, Respiratory insuffi... |
OMIM:619909 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Parakeratosis, Ataxia, Dysmetria, Hyperkeratosis, Ichthyosis, Acanthosis nigr... |
OMIM:618527 |
| Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Albinism, Hypopigmentation of the ski... |
OMIM:614072 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Bradycardia |
ORPHA:90673 |
| Distal Deletion 19P |
|
Long toe, Alopecia, Vaginal hernia, Arachnodactyly, Keloids, Joint hyperflexibility, Umbilical he... |
ORPHA:96129 |
| Juvenile Dermatomyositis |
|
Alopecia, Dyspnea, Limitation of joint mobility, Weight loss, Arthritis, Restrictive ventilatory ... |
ORPHA:93672 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Rhinorrhea, Leukocytosis, Oliguria, Pedal edema, Weight loss, Cardiorespirat... |
ORPHA:188 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Decreased circulating cortisol level, Premature pubarche, Hyperpigmentation of the skin... |
ORPHA:90795 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Congestive heart failure, Tachycardia |
ORPHA:90037 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
ORPHA:35078 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hypoglycemia, Apnea, Fasting hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
| Glutaric Acidemia I |
|
Ketonuria, Hypoglycemia, Glutaric aciduria, Choreoathetosis, Failure to thrive |
OMIM:231670 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Abnormal fingernail morphology, Primary adrena... |
ORPHA:3453 |
| Viss Syndrome |
|
Micrognathia, Generalized joint laxity, Emphysema, Hypothyroidism, Joint laxity, Long toe, Micror... |
OMIM:619472 |
| Huntington Disease |
|
Inability to walk, Weight loss, Gait disturbance, Gait imbalance, Difficulty walking, Decreased b... |
ORPHA:399 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Abnormality of retinal pigmentation, Sacral dimple, Respiratory distre... |
ORPHA:2556 |
| Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus, Follicular hyperkeratosis |
OMIM:615147 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... |
ORPHA:897 |
| Lowe Oculocerebrorenal Syndrome |
|
Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Osteomal... |
OMIM:309000 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
ORPHA:79151 |
| Neurofibromatosis Type 1 |
|
Multiple lipomas, Pheochromocytoma, Heterochromia iridis, Genu varum, Ataxia, Abnormality of the ... |
ORPHA:636 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis,... |
OMIM:145250 |
| Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
| Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Inguinal hernia, Arachn... |
ORPHA:284984 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoli... |
ORPHA:79107 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Ketonuria, Apnea, Ataxia, Leukocytosis, Tachypnea, Weight loss, Leukopen... |
ORPHA:20 |
| Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Dicarboxylic aciduria, Hypoglycemia, Death in childhood, Thrombocytopenia |
OMIM:611126 |
| Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypoglycemia |
OMIM:306000 |
| Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Ichthyosis, Orthokeratosis |
OMIM:607936 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Thin fingernail, Porokeratosis, Hypospadias, Tarsal synostosis, Aplastic clavicle... |
ORPHA:85199 |
| Trisomy 9P |
|
Sacral dimple, Hypoplastic fingernail, Short neck, Hypoplastic toenails, Kyphosis, Fingernail dys... |
ORPHA:236 |
| Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Neonatal respiratory distress, Hydranencephaly, S... |
ORPHA:1393 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Dyspne... |
OMIM:615084 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
| Acute Monoblastic/Monocytic Leukemia |
|
Ankle swelling, Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Weigh... |
ORPHA:514 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Decreased respons... |
ORPHA:3464 |
| Brucellosis |
|
Bronchitis, Knee osteoarthritis, Leukopenia, Leukocytosis, Lymphadenopathy, Anemia, Miscarriage, ... |
ORPHA:1304 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Hypergranulosis, Acantholysis, Orthokeratosis, Palmoplantar ker... |
OMIM:615508 |
| Multiple Myeloma |
|
Osteopenia, Splenomegaly, Nephropathy, Weight loss, Lymphadenopathy, Nephrotic syndrome, Pleural ... |
ORPHA:29073 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Long foot, Slender build, Scoliosis |
OMIM:300676 |
| Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Stiff neck, Inability to walk, Respiratory fa... |
ORPHA:2912 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoglycemia, Splenomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Failure to thrive... |
OMIM:251880 |
| Castleman Disease |
|
Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediasti... |
ORPHA:160 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Supernumerary nipple, Kyphos... |
OMIM:619194 |
| Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Acantholysis, Sparse eyebrow, Diffuse palmoplantar hyperker... |
OMIM:601214 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Pes planus, Proteinuria, Overlapping toe, Hiatus hernia, Precocious puberty, Cryptorchidism, Pate... |
OMIM:616682 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Pleural effusion, Failure to thrive, Hypoglycemia |
OMIM:617049 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Death in infan... |
OMIM:619355 |
| Biotinidase Deficiency |
|
Alopecia, Apnea, Ataxia, Splenomegaly, Tachypnea, Organic aciduria |
OMIM:253260 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Sparse eyelashes, Alopecia totalis, Craniosynostosis, Sparse eyebrow, Bilateral cr... |
OMIM:613451 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Ketonuria |
OMIM:615453 |
| Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Recurrent respiratory infections, Monorchism, Camptodactyly of finger, Microme... |
ORPHA:2753 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Hypoglycemia, Recurrent myoglobinuria, Neonatal death, Myoglobinuria |
OMIM:620300 |
| Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Weight loss, Failure to thrive in infancy, Adducted thumb |
ORPHA:388 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Respiratory failure requiring assisted ventilation, Decreased serum insulin-like grow... |
ORPHA:77293 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Abnormality of skin pigmentation, Nail dystrophy, Intrauterine growth... |
OMIM:620040 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Enamel hypoplasia, Sparse later... |
OMIM:614564 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Follicula... |
OMIM:613102 |
| Cholera |
|
Abnormality of renal excretion, Hypoglycemia, Miscarriage, Tachypnea, Aspiration pneumonia, Palmo... |
ORPHA:173 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Abnormal dental enamel morphology, Hypoplastic toenails, Fine hai... |
ORPHA:1028 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Hypothyroidism, Broad thumb, Brachy... |
OMIM:617763 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Recurrent respiratory infections, Hypoglycemia |
ORPHA:364 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypoplasia of penis, Ataxia, Bilateral cryptorchidism, Hypochromic microcytic anemia, Perineal hy... |
ORPHA:66634 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Micrognathia, Kyphosis, Interstitial emphysema, Bronchiectasis, Dysmetria, Knee flexion c... |
OMIM:619708 |
| Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Pedal edema, Vesicoureteral reflux, Abnormal vertebral... |
ORPHA:821 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Ataxia, Obesity, Abnormal granulocyte morphology, Congenital nonbullous ichthyosiform e... |
ORPHA:98907 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Numerous pigmented freckles, Ataxia, Cachexia |
ORPHA:220295 |
| Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
| Mend Syndrome |
|
Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Micrognathia, Long fingers, Kyph... |
OMIM:300960 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent respiratory infections, Abnormal fingernail morphology, Abnormal dental enamel morpholo... |
ORPHA:1334 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
| Mercury Poisoning |
|
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure, Acute kidney injury |
ORPHA:330021 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Pes planus, Hypoventilation, Apnea, Kyphosis, Stridor, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
| Pmm2-Cdg |
|
Osteopenia, Respiratory distress, Multiple joint contractures, Elevated circulating thyroid-stimu... |
ORPHA:79318 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Hypopigmentation of ... |
OMIM:214500 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Ataxia, Premature thelarche, Gait ataxia, Gait disturbance, Myoglobinuri... |
OMIM:616878 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Palmoplantar keratoderma, Nail dyst... |
OMIM:308800 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Parakeratosis, Aplastic anemia, Splenomegaly, Anemia, Hyperkerato... |
ORPHA:398124 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... |
OMIM:275000 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Broad-based gait, Ataxia, Obesity, Gait imbalance, Hypopigmentation of ... |
ORPHA:411511 |
| Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Cellulitis |
ORPHA:3165 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Inguinal hernia, Ketonuria, Small for gestational age, Hypospadias, Highly arch... |
OMIM:220111 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hyperparakera... |
ORPHA:276280 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Synophrys, Scoliosis... |
OMIM:619557 |
| Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Ungual fibroma, Respiratory tract infection, Pancreati... |
ORPHA:805 |
| Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den... |
OMIM:620232 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Ataxia, Dyspnea, Patent ductus arteriosus, Respiratory insufficiency, Respirato... |
OMIM:610505 |
| Congenital Disorder Of Glycosylation, Type It |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Micrognathia, Dyspnea, Delayed pubert... |
OMIM:614921 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Weight loss, Cough |
ORPHA:99868 |
| Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
| Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Akinesia, Respiratory insufficiency, Weight loss, Respi... |
OMIM:168605 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia, Increased cir... |
ORPHA:90790 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular sep... |
ORPHA:137675 |
| Marburg Hemorrhagic Fever |
|
Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc... |
ORPHA:99826 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, ... |
ORPHA:507 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Abnormal fingernail morphology, Fine hair, Abnormality of skin ... |
ORPHA:1806 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Cervical ribs, Micrognathia |
ORPHA:77300 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Productive cough, Thrombocytopenia, Leukocy... |
ORPHA:520 |
| Mast Cell Sarcoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Vesicoureteral ... |
ORPHA:116 |
| Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Joint stiffness, Weight loss, Rheumatoid arthritis, In... |
OMIM:180300 |
| Glycogen Storage Disease Ixd |
|
Hypoglycemia, Exercise-induced myoglobinuria |
OMIM:300559 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair, Hypoglycemia, Ataxia, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, ... |
OMIM:124000 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Tachypnea, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyi... |
OMIM:253270 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia |
ORPHA:309031 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Recurrent respiratory infections, Thoracic scoliosis, Absent nipple, Broad hallux... |
OMIM:620186 |
| Central Diabetes Insipidus |
|
Failure to thrive, Diabetes insipidus, Nocturia, Weight loss |
ORPHA:178029 |
| Bronchial Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Pneumonia, Elevated circulating growth hormone concentrati... |
ORPHA:97287 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Asplenia, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the nails, Camptodactyly,... |
OMIM:619123 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Paronychia, Weight loss, Ridged fingernail, F... |
ORPHA:37 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly |
ORPHA:97297 |
| Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Ataxia, Hypoglycemia |
OMIM:248600 |
| Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
| Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Genu recurvatum, Arachnodactyly, Kyphosis, Scoliosis |
OMIM:609008 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia, Sacrococcygeal teratoma |
ORPHA:1757 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Eosinophilia, Dyspnea, Thyroiditis, Pulmonary infiltrates, Weight loss, Tubu... |
ORPHA:139402 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Increased urinary glycerol, Hypoglycemia, Apnea, Dyspnea, Hyperventilation |
OMIM:229700 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Ataxia, Tachypnea, Lacticaciduria, Tip-toe gait, Hyperglycemia, Failure to thrive, ... |
ORPHA:3008 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Thickened skin, Ocular albinism, Hyperkeratosis, Freckling, H... |
ORPHA:79431 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi... |
ORPHA:129 |
| Attrv30M Amyloidosis |
|
Nephropathy, Abnormal renal physiology, Weight loss |
ORPHA:85447 |
| 16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Highly arched eyebrow, Kyphosis, Abnormal hair pattern... |
ORPHA:261250 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Abnormal sweat gland morphology, Absent eyelashes, H... |
OMIM:607823 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Anterior pituitary hypoplasia, Hypoglycem... |
OMIM:616113 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Abnormality of uri... |
OMIM:256700 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hypogonadism, Hair shafts flattened at irregular i... |
OMIM:262000 |
| Ramon Syndrome |
|
Kyphosis, Hyperkeratosis, Pigmentary retinopathy, Scoliosis, Decreased body weight, Juvenile rheu... |
OMIM:266270 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Bradycardia |
ORPHA:90674 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Ataxia, Moderate albuminuria, Weight los... |
ORPHA:99885 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Renal insufficiency, Spontaneous pneumothorax, Micrognathia, Biliary hyperplasia... |
ORPHA:731 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Dyspnea, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Noc... |
ORPHA:230 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Thrombocytopenia, Positional foot deformity, Dysmetria, Athetosis, Difficulty walking, In... |
ORPHA:572798 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Hyperlordosis, Kyphosis, Inability to walk, Absent Achilles reflex, ... |
OMIM:128100 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
| Igg4-Related Aortitis |
|
Low back pain, Asthma, Hypereosinophilia, Weight loss, Hydronephrosis |
ORPHA:449400 |
| Acrokeratoelastoidosis Of Costa |
|
Hypergranulosis, Abnormality of the lower limb, Palmoplantar hyperkeratosis, Granulomatosis, Orth... |
ORPHA:38 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Hypoglycemia |
ORPHA:156 |
| Chédiak-Higashi Syndrome |
|
Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, Neutrop... |
ORPHA:167 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Scarring, Recurrent pneumonia, Palmoplantar keratoderma, Nail dystrophy, Foll... |
ORPHA:158668 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture |
OMIM:603387 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dystrophy, O... |
OMIM:617337 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Palmoplantar hyperkera... |
OMIM:617388 |
| Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Small for gestational age, Tachypnea, Anomalo... |
ORPHA:555874 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Pes planus, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Spa... |
OMIM:617011 |
| Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism... |
OMIM:203300 |
| Glycogen Storage Disease Ixc |
|
Splenomegaly, Bile duct proliferation, Fasting hypoglycemia, Hypoglycemia |
OMIM:613027 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele test... |
OMIM:615108 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Decreased circulating cortisol level, Hypoglycemia, Anemia |
OMIM:618838 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Generalized lymphadenopathy, Ataxia, Thrombocytopenia, Cervical lymphadenopathy, Spleno... |
ORPHA:50918 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Transient neutropenia, Inguinal hernia, Chronic neutropenia, Long f... |
ORPHA:500095 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, S... |
OMIM:131100 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
| Isolated Anencephaly |
|
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Congenital diaphragmatic ... |
ORPHA:563609 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Wido... |
ORPHA:1974 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Acrokeratosis, Micrognathia, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis,... |
OMIM:158350 |
| Yellow Fever |
|
Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio... |
ORPHA:99829 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Abnormal T cell subset distributio... |
ORPHA:221139 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Ataxia, Urinary incontinence, Kyphosis, Dysmetria, Ankle clonus, Gait disturbance, Scoliosis, Pes... |
ORPHA:88644 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... |
OMIM:613673 |
| Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm... |
ORPHA:2884 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Toe syndactyly, Ocular albinism, Hypopigmented skin patches, Clinodacty... |
ORPHA:999 |
| Milroy Disease |
|
Ankle swelling, Pedal edema, Hydrocele testis, Hyperkeratosis, Cellulitis, Toenail dysplasia |
ORPHA:79452 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hypoglycemia |
OMIM:608688 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Ketonuria, Ataxia, Hypoglycemia, Hypoglycemic seizures, Compensated hypothyroidism |
ORPHA:480864 |
| Biotinidase Deficiency |
|
Respiratory distress, Alopecia, Apnea, Ataxia, Myelopathy, Organic aciduria, Hyperventilation |
ORPHA:79241 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Inability to walk, Kyphosis, Gait ataxia |
ORPHA:500180 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele test... |
OMIM:615109 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Micrognathia, Pilomatrixoma, Multinodular goiter, Hyperkeratosis, Hammertoe, Lipoma, Pes cavus |
OMIM:620189 |
| Mend Syndrome |
|
Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Long fingers, Wide anterior fontanel,... |
ORPHA:401973 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Thickened skin, White ha... |
ORPHA:79435 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Alopecia, Increased mean platelet volume |
OMIM:617443 |
| Acute Radiation Syndrome |
|
Hyperpigmentation of the skin, Hyperkeratosis, Interstitial pneumonitis, Granulocytopenia, Lympho... |
ORPHA:454831 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Inguinal hernia, Hypospadias, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, Radial deviatio... |
OMIM:609944 |
| Atelis Syndrome 2 |
|
Pes planus, Sacral dimple, Micrognathia, Kyphosis, Thrombocytopenia, Elevated circulating thyroid... |
OMIM:620185 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Weight loss, Hepatospleno... |
ORPHA:85450 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Respiratory arrest, Hypoketotic hypoglycemia |
OMIM:600649 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Hypoglycemic seizures, Hepatic necrosis, Myoglobinuria, Hypoketotic hypogl... |
OMIM:231530 |
| Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Unilateral renal agenesis, Sho... |
OMIM:620305 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Elevated urinary norepinephrine level, Elevated urinary dopamine ... |
ORPHA:94080 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Neutrophilia, Leukocytosis, Oligoarthritis, Nail dystrophy |
OMIM:614204 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Sparse axillary hair, Sparse p... |
OMIM:181270 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy, Hypoglycemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyph... |
OMIM:617156 |
| Limb-Mammary Syndrome |
|
Syndactyly, Alopecia, Toe syndactyly, Absent nipple, Sparse eyebrow, 3-4 finger cutaneous syndact... |
ORPHA:69085 |
| Combined Oxidative Phosphorylation Deficiency 39 |
|
Sinus bradycardia |
OMIM:618397 |
| Lynch Syndrome |
|
Neoplasm of the pancreas, Death in infancy, Pancreatic adenocarcinoma, Death in early adulthood, ... |
ORPHA:144 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Inguinal he... |
OMIM:303600 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Sudden episodic apnea, Oliguria, Respiratory insufficiency, Fasting hypogl... |
ORPHA:159 |
| Leprosy |
|
Absent eyebrow, Alopecia, Autoamputation of digits, Epistaxis, Abnormality of the spleen, Loss of... |
ORPHA:548 |
| Focal Myositis |
|
Limitation of joint mobility, Weight loss |
ORPHA:48918 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Rectal abscess, Failure to thrive, B lymphocytopenia, Neutropenia |
OMIM:601495 |
| Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Large for gestational age, Kyphosis, Plantar pits, Abnormal rib morp... |
ORPHA:77301 |
| Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Bone cyst, Osteo... |
ORPHA:2396 |
| Q Fever |
|
Respiratory distress, Osteomyelitis, Pneumonia, Thrombocytopenia, Splenomegaly, Abnormal pulmonar... |
ORPHA:781 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Recurrent lower respiratory tract infections |
OMIM:136630 |
| Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, L... |
OMIM:203500 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Medium chain dicarboxylic aciduria, Hyperglycinuria, Hypoglycemia |
OMIM:201450 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hyperconvex fingernails, Alopecia, Abnormal dental enamel morphology, Hypoplastic fingernail |
ORPHA:257 |
| Malignant Atrophic Papulosis |
|
Pleural effusion, Respiratory failure, Weight loss |
ORPHA:679 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, B... |
OMIM:619244 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... |
OMIM:606545 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Recurrent upper respiratory t... |
OMIM:232240 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Synophrys, Abnormal curvature of the vertebral column, Abnormality of skin pigmentatio... |
OMIM:619475 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Dicarboxylic aciduria, Failure to thrive, Thrombocytopenia |
ORPHA:99901 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, Hyperkeratosis, Onycholysis, Fol... |
OMIM:616295 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia, Genu recurvatum, Melanocytic nevus, Vertebral segmentation defect, Adenoma sebaceum, Ir... |
ORPHA:2612 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Broad-based gait, Gait imbalance, Hypopigmentation of the skin, Iris hy... |
ORPHA:98795 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
| Stevens-Johnson Syndrome |
|
Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pleura morphology, Abnor... |
ORPHA:36426 |
| Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocyto... |
OMIM:300755 |
| Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Dry hair, Unilateral renal agenesis, Kyphos... |
ORPHA:90324 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Respiratory insufficiency due ... |
ORPHA:18 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis, Hypopigmented streaks, Abnormality of the nail |
ORPHA:254478 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Frontal balding, Precocious ... |
ORPHA:786 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis |
OMIM:133190 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, Premature graying of ha... |
ORPHA:363618 |
| Vici Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Lymphopenia, Albinism, Micrognathia, ... |
OMIM:242840 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Thyroiditis, ... |
ORPHA:83471 |
| Polycythemia Vera |
|
Myelofibrosis, Epistaxis, Pulmonary embolism, Splenomegaly, Respiratory insufficiency, Acute leuk... |
ORPHA:729 |
| Primary Biliary Cholangitis |
|
Abnormality of the thyroid gland, Osteoporosis, Hyperpigmentation of the skin |
ORPHA:186 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Tachypnea, Lacticaciduria, Eleva... |
OMIM:615751 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Ataxia, Hypermelanotic macule, Equinovarus deformity, Bilateral cryptorchidism, Sc... |
OMIM:278800 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Diffuse alveolar hemorrhage, Localized pulmonary hemorrhage, Respiratory insufficiency... |
OMIM:608710 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
| Colchicine Poisoning |
|
Respiratory distress, Alopecia, Renal insufficiency, Leukocytosis, Oliguria, Cardiorespiratory ar... |
ORPHA:31824 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Palmoplanta... |
OMIM:610644 |
| Smith-Lemli-Opitz Syndrome |
|
Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole... |
OMIM:270400 |
| Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
| Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Howell-Jolly bodies, Nonproductive cough, Dyspnea, Abnormal pul... |
ORPHA:85443 |
| Toxic Epidermal Necrolysis |
|
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abnormal pl... |
ORPHA:537 |
| Goodpasture Syndrome |
|
Nodular pattern on pulmonary HRCT, Crackles, Tachypnea, Cough, Pulmonary infiltrates, Restrictive... |
OMIM:233450 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Small for gestational age, Respiratory failure, Patent urachus, Death in childhood, Failure to th... |
OMIM:618252 |
| Nephroblastoma |
|
Hematuria, Lymphadenopathy, Neoplasm of the lung, Weight loss |
ORPHA:654 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:133200 |
| Granulomatosis With Polyangiitis |
|
Recurrent respiratory infections, Renal insufficiency, Ureteral stenosis, Proteinuria, Recurrent ... |
ORPHA:900 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Hypergranulosis |
OMIM:615023 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, T lymphocytopenia, B lymphocytop... |
OMIM:251260 |
| Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
| Niemann-Pick Disease Type C |
|
Ataxia, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency... |
ORPHA:646 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Decreased serum insulin-like growth factor ... |
OMIM:241080 |
| Dermatomyositis |
|
Abnormal hair quantity, Recurrent respiratory infections, Abnormal eosinophil morphology, Lung ad... |
ORPHA:221 |
| Perlman Syndrome |
|
Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Micrognathia, Large for gestation... |
OMIM:267000 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Neonatal respiratory distress, Ataxia, Hyperkeratosis, Adrenal insufficiency, High anterior hairline |
OMIM:615510 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Dicarboxylic aciduria, Hypoketotic hypoglycemia |
OMIM:255120 |
| African Trypanosomiasis |
|
Alopecia, Renal insufficiency, Miscarriage, Urinary incontinence, Akinesia, Abnormality of the en... |
ORPHA:3385 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
| Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Renal cyst, Premature graying of hair, Spa... |
OMIM:113620 |
| Infantile Liver Failure Syndrome 2 |
|
Hypoglycemia |
OMIM:616483 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
| Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Neoplasm of the lung, Weight loss, Pheochromocytoma... |
ORPHA:1332 |
| Meige Disease |
|
Absence of lymph node germinal center, Pedal edema, Atypical scarring of skin, Lymph node hypopla... |
ORPHA:90186 |
| Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Ataxia, Abnormality of the nail |
ORPHA:28378 |
| Alström Syndrome |
|
Respiratory distress, Thoracic scoliosis, Urinary incontinence, Decreased response to growth horm... |
ORPHA:64 |
| Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal lung morphol... |
ORPHA:91139 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Thymoma, Iron deficiency anem... |
OMIM:269200 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Follicular hyperkeratosis |
OMIM:613736 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Bradycardia |
OMIM:218700 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormal lung morphology, Abnormality of the lymphatic system, Abnormal lymph node ... |
ORPHA:54251 |
| Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Joint laxity, Hallux valgus, Pes planus, Ataxia, Kyphoscoliosis, Kyphosis, Cryptorchidism, Patent... |
OMIM:300967 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Art... |
ORPHA:536 |
| Perry Syndrome |
|
Central hypoventilation, Weight loss |
ORPHA:178509 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Neoplasm of the lung, Pa... |
ORPHA:79501 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt... |
OMIM:604777 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary insufficiency, Bradycardia |
OMIM:614437 |
| Fatal Familial Insomnia |
|
Urinary retention, Apnea, Ataxia, Weight loss |
OMIM:600072 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Thickened skin, Melanocy... |
ORPHA:79434 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Hyperpigmentation of the ... |
OMIM:607398 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... |
ORPHA:276621 |
| Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis |
ORPHA:83453 |
| Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Ataxia, Pneumonia, Hypercapnia, Respiratory t... |
ORPHA:79138 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
| Behçet Disease |
|
Renal insufficiency, Ataxia, Pulmonary embolism, Orchitis, Splenomegaly, Pulmonary infiltrates, W... |
ORPHA:117 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Pituitary adenoma, Flexion contracture, Weig... |
ORPHA:440437 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Abnormality of the plantar skin of foot, Parakeratosis, Increased body weight |
ORPHA:64745 |
| Acute Liver Failure |
|
Hypoglycemia, Ataxia, Abnormal respiratory system physiology, Hepatic necrosis, Hepatocellular ne... |
ORPHA:90062 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Myelomeningocele, Hypopigmented... |
ORPHA:3440 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Eosinophilia, Leukocytosis, Asthma, Weight loss, Anemia |
ORPHA:2070 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Parakeratosis, Exercise-induced myoglobinuria |
ORPHA:284426 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Retinal pigment epithelial mottling, Respiratory insufficiency, Absent ... |
OMIM:607459 |
| Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis |
OMIM:602723 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Enteroviral hepatitis, Recurrent urinary tract infections, Decreased response to growth hormone s... |
OMIM:307200 |
| Postencephalitic Parkinsonism |
|
Camptocormia, Akinesia, Kyphosis, Abnormal respiratory system physiology, Cough |
ORPHA:97349 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Kyphosis, Pituitary adenoma, Increased circula... |
OMIM:300942 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Alopecia, Toe syndactyly, Supernumerary nipple, Pulmonary artery stenosis, Talipes... |
OMIM:100300 |
| Polyarteritis Nodosa |
|
Abnormal lung morphology, Pleuritis, Weight loss |
ORPHA:767 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Ataxia, Glutaric aciduria, Chronic kidney disease, Athetosis, Fasting hypoglycemia |
ORPHA:25 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Dyspnea, Chronic ... |
ORPHA:1018 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Pneumonia, Thrombocytopenia, Splenom... |
OMIM:615846 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Gait disturbance, Multiple cafe-au-lait spo... |
ORPHA:3214 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Malignant Peritoneal Mesothelioma |
|
Dyspnea, Pedal edema, Weight loss |
ORPHA:168811 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
| Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Fasting hypoglycemia, Adrenocorticotropic hormone deficienc... |
OMIM:201400 |
| Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Abnormality of skin pigmentation, Alopecia, Hypospadi... |
ORPHA:286 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... |
ORPHA:913 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine, Hypoketotic hypoglycemia |
ORPHA:228305 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Abnormal sacrum morphology, Pulmonary hypoplasia, Sirenomelia |
ORPHA:1848 |
| Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Chronic noninfectious lymphadenopathy, Dyspnea, Weight loss, Neoplasm of the lung, Bronchospasm, ... |
ORPHA:100085 |
| Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Scoliosis, Delayed puberty, Failure to thrive |
ORPHA:649 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal lung morphology, Sterile pyuria, Pedal edema, Tubulointerstitial nephriti... |
ORPHA:449395 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss, Abnormal lymphatic vessel morphology, Pleural effusion, Decreased proportion of CD3-... |
ORPHA:90362 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Dyspnea, Leukocytosis, Weight loss, Pleural empyema, Cough, Pleural effusion, Anemia |
ORPHA:67 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Splenomegaly, Hypopigmented skin p... |
ORPHA:163746 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hypoglycemic seizures, Adrenocorticotro... |
ORPHA:199296 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... |
OMIM:619381 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Weight loss |
ORPHA:65682 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Neoplasm of the pancreas, Precocious puberty, Weig... |
ORPHA:370348 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... |
ORPHA:29072 |
| Bullous Pemphigoid |
|
Diabetes mellitus, Weight loss |
ORPHA:703 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis |
OMIM:618531 |
| Grfoma |
|
Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,... |
ORPHA:97261 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Neuroendocrine Tumor Of The Colon |
|
Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Increased serum serotonin, Atyp... |
ORPHA:100080 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E... |
ORPHA:97282 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive |
ORPHA:35710 |
| Rett Syndrome, Congenital Variant |
|
Pes planus, Kyphosis, Athetosis, Talipes equinovarus, Scoliosis, Aspiration |
OMIM:613454 |
| Pemphigus Vulgaris |
|
Atypical scarring of skin, Acantholysis, Weight loss |
ORPHA:704 |
| Aspartylglucosaminuria |
|
Joint laxity, Recurrent respiratory infections, Aspartylglucosaminuria, Kyphosis, Hypoplastic fro... |
OMIM:208400 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Panniculitis, Hemophagocytosis, Weight loss |
ORPHA:86884 |
| Congenital Tufting Enteropathy |
|
Arthritis, Failure to thrive, Weight loss |
ORPHA:92050 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
| Rat-Bite Fever |
|
Back pain, Lymphadenitis, Oligoarthritis, Weight loss, Anemia, Arthritis, Septic arthritis, Parot... |
ORPHA:31205 |
| Neuroendocrine Tumor Of The Rectum |
|
Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Increased serum serotonin, Atyp... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Chronic noninfectious lymphadenopathy, Weight loss, Bronchospasm, Increased serum serotonin, Atyp... |
ORPHA:100082 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Miscarriage, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Pul... |
ORPHA:71493 |
| Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
| Lymphedema-Distichiasis Syndrome |
|
Micrognathia, Yellow nails, Kyphosis, Patent ductus arteriosus, Chylothorax, Cellulitis, Distichi... |
OMIM:153400 |
| Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Weight loss |
ORPHA:95427 |
| Familial Pancreatic Carcinoma |
|
Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Hepatosplenomegaly, Lymphadenopathy, Wei... |
ORPHA:1333 |
| 15Q14 Microdeletion Syndrome |
|
Kyphosis, Inguinal hernia, Scoliosis |
ORPHA:261190 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Panniculitis, Weight loss |
ORPHA:33577 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Tricuspid regurgitation, Atrial situs ambiguous, Ventricular septal defect, Dextroca... |
ORPHA:99125 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Kyphosis, Positional foot deformity, Dysmetria, Enuresis nocturna, Ankle cl... |
ORPHA:171629 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... |
OMIM:164310 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Decreased urinary potassium, Th... |
ORPHA:79102 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Urinary incontinence, Kyphosis, Hypopnea, Restrictive ventilatory defect,... |
OMIM:619482 |
| Oromandibular Dystonia |
|
Respiratory distress, Weight loss |
ORPHA:93958 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Weight loss |
ORPHA:90003 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
| Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Pneumothorax, Elbow flexion contracture, Osteolytic defects of the pha... |
OMIM:618175 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor... |
ORPHA:97283 |
| Postinfectious Vasculitis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Pneumonia, Orchitis, W... |
ORPHA:48435 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Adrenocortical cytomegaly, Neonatal hypoglycemia, Cryptorchidism, Adrenocortical car... |
OMIM:130650 |
| Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight loss, Iron defici... |
ORPHA:100075 |
| Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Hereditary Late-Onset Parkinson Disease |
|
Spastic/hyperactive bladder, Shuffling gait, Akinesia, Weight loss |
ORPHA:411602 |
| Gerstmann-Straussler Disease |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Weight loss |
OMIM:137440 |
| Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
| Caroli Disease |
|
Splenomegaly, Leukocytosis, Weight loss, Polycystic kidney dysplasia, Cholelithiasis |
ORPHA:53035 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis |
OMIM:610227 |
| Glucagonoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hor... |
ORPHA:97280 |
| Subacute Cutaneous Lupus Erythematosus |
|
Hyperkeratosis |
ORPHA:163525 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Diabetes insipidus, Weight loss |
ORPHA:95626 |
| Ppoma |
|
Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating growth hormone concentration,... |
ORPHA:97278 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
| Malt Lymphoma |
|
Recurrent respiratory infections, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, ... |
ORPHA:52417 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Pachyonychia Congenita 3 |
|
Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail dystrophy, Fol... |
OMIM:615726 |
| Budd-Chiari Syndrome |
|
Splenomegaly, Weight loss |
ORPHA:131 |
| Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Reactive hypoglycemia |
ORPHA:469 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Neonatal respiratory distress, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased ... |
OMIM:182210 |
| Ileal Neuroendocrine Tumor |
|
Lymphadenopathy, Weight loss, Iron deficiency anemia, Small intestine carcinoid, Increased serum ... |
ORPHA:100078 |
| Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia |
ORPHA:71273 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Weight loss, Arthritis, Iron deficiency anemia, Lymphocytosis, ... |
OMIM:301074 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Adenoma sebaceum |
ORPHA:493 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
| Behcet Syndrome |
|
Arthritis, Patchy alopecia, Decreased level of D-mannose in urine |
OMIM:109650 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, W... |
ORPHA:103918 |
| Choreoacanthocytosis |
|
Equinovarus deformity, Peroneal muscle atrophy, Acanthocytosis, Splenomegaly, Abnormal erythrocyt... |
ORPHA:2388 |
| Sympathetic Ophthalmia |
|
Vitiligo, Alopecia, Poliosis |
ORPHA:79098 |
| Klatskin Tumor |
|
Lymphadenopathy, Weight loss |
ORPHA:99978 |
| Pyomyositis |
|
Leukocytosis, Renal insufficiency, Testicular teratoma, Weight loss |
ORPHA:764 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Weight loss, Tubulointerstitial nephritis... |
ORPHA:79078 |
| Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Weight loss |
ORPHA:100086 |
| Kanzaki Disease |
|
Hyperkeratosis, Increased urinary O-linked sialopeptides, Aminoaciduria |
OMIM:609242 |
| Holoprosencephaly 1 |
|
Micropenis, Diabetes insipidus, Adrenal hypoplasia, Hypoglycemia |
OMIM:236100 |
| Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
| Pancreatoblastoma |
|
Abnormal lymph node morphology, Pancreatic calcification, Weight loss |
ORPHA:677 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
|
OMIM:616911 |
